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pmc-6392638-1
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An 8-year-old boy was referred to our department with a severe acute mangled injury of his right (dominant) hand immediately after a mincing machine accident. Severed deformity at the level of the right wrist, extensive soft tissue crush and detachment, and open wrist fracture were noted. Comminuted fracture of the bones of his right wrist was diagnosed on the emergency radiographs with a Mangled Extremity Severity Score (MESS) of 8.[ No special medical history and comorbidities needed to be addressed. A wrist disarticulation was performed as previously described.[ The key steps of the disarticulation procedure included: designing the long volar flap and the short dorsal flap; clamping, ligating, and dissecting the ulnar artery and the radial artery in the proximal radiocarpal joint; isolating and dissecting the median nerve, radial nerve, and ulnar nerve; dissecting the remaining tendons; excising the radial and ulnar styloid process; and filing the bone to smooth the contour and suturing the flap interruptly. The wound infection was found in the fifth day after the first surgery with the Enterobacter cloacae detected in the wound secretion. Empirical use of antibiotics and standardized wound care were applied until no bacterial growth identified by the repeated culture of the wound exudate. The patient then received a repair of the amputation stump again with the double-pedicle advancement flap. At 4 weeks after the second surgery, the wound healed successfully with stitches removed (Fig. ). This case report was approved by the Medical Ethical Committee of Zhaoqing First People's Hospital, Guangdong, People's Republic China. The patient and the parents provided the informed consent for the publication of the clinical and radiological data.
With informed consent to the patient and the caregivers about the potential benefits and harms, we designed and manufactured a novel 3D-printed prosthetic hand for this child. The design of the prosthesis was based on an open-source design (Raptor Reloaded) from the thingiverse.com and recustomized to fit the recipient.[ The whole process including: measurement and scanning of the stump, customization, printing, and assembling of the components (Fig. ). The length and circumference of both the unaffected arm and the residual part of the affected arm of the recipient were measured as a reference for the customization of the prosthesis. The data was then managed with Slic3r (slic3r.org) and each component of the prosthesis was reshaped individually. Components of the device included distal phalanges, proximal phalanges, finger snap pins, knuckle pins, palm, gauntlet (forearm), hinge pins, and arm cap (Fig. ). Each component was fabricated with an open sourced 3D printer (FlashForge Creator Pro, Zhejiang, China) using the acrylonitrile–butadiene–styrene filament. The components were then assembled with the nylon string and the medical-level foam. The control–cable system allowed the distal phalanges to open with the extension and to close with the flexion of the wrist of the recipient.
The personalized prosthetic training and rehabilitation program were applied in this recipient after the installation of the device at 6 months after the second surgery.[ The program included preprosthetic, interim, and postprosthetic training (Table ). In the preprosthetic period, care was given to keep the normal range of motion and strengthening of the amputated arm, shape the stump for fitting the prosthesis, and take care of the scar and edema. After fitting of the prosthesis, the amputee received the scheduled training for prosthetic control, repetitive drills, and activities of daily living (ADL). The ADL training was performed according to the rating guide developed by Atkin's titled “Unilateral Upper Extremity Amputation—Activities of Daily Living”.[ The patient was asked to visit the outpatient physical therapist twice per week for the first 8 weeks, once per week for the next 4 weeks, and then once per month within the first year. Education of both the recipient and the parents was also provided, involving the loading, cleaning, and supervision of the prosthesis in the daily activities.
The function evaluation of the prosthesis was performed at 1 month and 3 months postprosthetically. The Children Amputee Prosthetics Projects (CAPP) score[ and The University of New Brunswick Test of Prosthetic Function for Unilateral Amputees (UNB test)[ were used to assess the daily functionality of the prosthesis, which were the standardized tools with previously validated reliability. The CAPP score includes the CAPP-Prosthesis Satisfaction Inventory (CAPP-PSI)[ and the CAPP-Functional Status Inventory (CAPP-FSI),[ and both are required to be completed by the child's parents. The CAPP-PSI measures the degree of parents’ satisfaction with their child's prosthetic hand regarding fit, function, appearance, and service (see Supplementary Table S1, which illustrates the entire 14 items of the CAPP-PSI). Each item is evaluated using a 4-point score ranging from 0 to 4 (0 = not at all”; 1 = a little; 2 = somewhat; 3 = a lot; and 4 = very much). The CAPP-FSI measures the child's performance of daily behaviors including self-care tasks and other developmentally activities. The child's behavior is rated on 2 scales: “does activity” indicates the frequency of the child independently performing a specific task, and “Uses prosthesis” signifies the frequency of the child using prosthesis to perform the tasks (see Supplementary Table S2, which illustrates the entire 34 items of the CAPP-FSI for children with upper limb deficiency). Each item was rated on a 5-point score ranging from 0 to 5 (0 = none of the time, 1 = a little of time, 2 = some of the time, 3 = most of the time, and 4 = all the time). The UNB test for children (ages 8–10) includes 3 subtests (10 items per subtest) which demonstrated intersubtest reliability (see Supplementary Tables S3–S6, which illustrate the 3 subtests and the rating scale of the UNB test). It evaluates 2 scales (spontaneity and skill) of the utilization of the prosthesis. Performance of each testing maneuver was video recorded and evaluated subsequently with a 5-point scale (0–4) for both the spontaneity and skill of the utilization of the prosthesis.
The results were analyzed by 2 independent observers (GSX and LG) and reported as a consensus with discussion. Descriptive statistics were used to report the scores. Data was shown in mean ± standard deviation. The mean score of the UNB test (from 30 items of 3 subtests) at 1 month and 3 months postprosthetically were compared using the Mann–Whitney U test with a significance level of .05.
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pmc-6392671-1
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Case 1: A 58-year-old male presented to our hospital with thoracic back pain, with weakness and hypoesthesia in both lower extremities. The patient was administered rehydration therapy for 1 day, and his thoracic back pain was slightly alleviated, however, weakness with hypoesthesia in the lower extremities, gradually worsened. Physical examination, including the Glasgow Coma Scale, revealed that the patient was conscious (spontaneous eye response: +4) verbally fluent (oriented: +5) but had no motor response (+1). The patient had normal upper limb strength (grade 5/5), but grade 0/5 (no contraction) lower limb strength, although muscle tension was normal. The patient was experiencing numbness from T6 to T12 and had pain in the mid-thoracic spine (T4 to T6). Residual neurological examination revealed no obvious abnormalities. The MRI scan demonstrated a 2.5 cm × 1.5 cm lesion at T3/T4 that appeared hyperintense on T1-weighted images (Fig. A), and hypointense and hyperintense on T2-weighted images (Fig. B) and fat suppression images (Fig. C), as well as compression of the spinal cord. Contrast enhanced the lesion, showing an uneven, slightly enhanced shadow (Fig. D and E). The patient was diagnosed with a suspected meningioma. Following surgical resection of the suspected meningioma, pathology revealed a brown irregular 1.0 cm × 1.2 cm × 2.7 cm mass with a rough surface covered in blood clots. The pathological diagnosis was hemolymphangioma and thrombosis (Fig. F).
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pmc-6392671-2
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Case 2: A 60-year-old female presented to our hospital with hypoesthesia of the left thigh. She had been suffering from symptoms for 4 years and had difficulty in walking for 2 years. Physical examination, including the Glasgow Coma Scale, revealed that the patient was conscious (spontaneous eye response: +4) verbally fluent (oriented: +5,) but had no motor response (+1). The patient had normal upper limb strength (grade 5/5) and grade 4/5 lower limb strength. Sensitivity to pain, temperature, and coarse touch of both lower limbs were decreased, and there was a positive bilateral Babinski sign. The MRI scan revealed a 6.1 cm × 0.9 cm lesion in the spinal epidural space at T10 to T12 that infringed upon the adjacent intervertebral foramen and appeared hypointense on T1-weighted images (Fig. A) and hyperintense on T2-weighted (Fig. B) and fat suppression images (Fig. C). Contrast enhanced the lesion showing an irregular, severely enhanced shadow in the spinal epidural space at T10 to T12 and intervertebral perforation at T10/11 (Fig. D and E). The patient was diagnosed with a suspected schwannoma. Following surgical resection of the suspected schwannoma, pathology showed a solid reddish-brown irregular 0.5 cm × 1.8 cm × 5.0 cm mass. The pathological diagnosis was hemolymphangioma (Fig. F).
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pmc-6392690-1
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A 45-year-old woman presented to West China Hospital with a 1-month history of coughing with abdominal pain. She had no shortness of breath, hemoptysis, chest pain, night sweats, or notable marasmus. She had no significant medical history. Chest CT revealed evidence of infectious disease in the right upper lung lobe and enlargement of a mediastinal lymph node (Fig. ). All laboratory findings were within the reference ranges with the exception of the cancer antigen 125 level, which was 482.8 U/L (reference range, 0–35 U/L). The results of a tuberculosis interferon-γ release assay and purified protein derivative test were considered positive. However, the purified protein derivative test may have a high risk of false-positive results.[ Additionally, because the sputum smear did not reveal acid-fast bacilli, tuberculosis could not be diagnosed and she did not undergo antituberculosis treatment.
One month later, the patient was admitted to our hospital for abdominal pain. No abnormalities were found in a physical gynecologic examination. B-scan ultrasound showed a 3.0- × 1.7- × 2.2-cm right adnexal cystic mass and a 1.5- × 1.3- × 1.2-cm plaque with weak echogenicity. Abdominopelvic CT demonstrated multiple solid-cystic nodules located on the surface of the bilateral adnexa, a small amount of abdominal effusion, and multiple nodules in the thickened omentum, fascia, and peritoneum. The pelvic mass was suspected to be either tuberculosis or ovarian cancer. Therefore, the patient was scheduled to undergo exploratory laparoscopy for a definitive diagnosis. Lumbar CT showed bulging of the lumbar discs at L3-4 and L4-5 without spinal tuberculosis or a cold abscess. After standard monitoring according to the American Society of Anesthesiologists guidelines, the patient was placed in the lateral decubitus position, and epidural anesthesia was established in one attempt by insertion of an 18-gauge Tuohy epidural needle into the L1-2 space. The epidural catheter was inserted smoothly. Next, 3 mL of 2% lidocaine was injected as a test dose. Five minutes later, 6 mL of 2% lidocaine was given via the epidural catheter. DEX was continuously infused by an intravenous pump with different speed capabilities. In the first 10 minutes, the total dosage was 1 μg/kg. The speed was thereafter maintained at 0.3 to 0.5 μg/kg per hour. After administration of a loading dose of DEX, 5 mL of 2% lidocaine was incrementally given via the epidural catheter to obtain a T8 sensory level. The DEX was adjusted to keep the Ramsay sedation score (RSS) at 3 to 4 during surgery. One 10-mm optic trocar was inserted above the umbilicus in the Trendelenburg position, and 2 working trocars were inserted through the left inferolateral abdominal wall. The carbon dioxide pneumoperitoneum pressure was maintained at 11 mm Hg. The patient complained of discomfort during exploration of the upper abdomen; her discomfort was resolved by administration of 1 mg of midazolam. Laparoscopic examination showed extensive gray tubercles on the surface of the liver, omentum, intestinal canal, abdominal wall, and internal genitalia (Fig. A and B). Adhesions and yellowish peritoneal fluid were present in the abdominopelvic cavity. During the operation, the patient's vital signs were stable and no hypotension was observed. The surgical operation lasted for 35 minutes, and her vital signs are shown in Figure . The RSS recovered to 2 approximately 15 minutes after stopping the DEX administration. No adverse effects, including psychological conditions, were observed during the surgery or 1-day follow-up. The pelvic tubercles were confirmed to be caseous necrotic tissue by pathologic examination.
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pmc-6392699-1
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A 37-year-old man presented to our hospital with abdominal pain for 2 weeks. The pain was periumbilical, nonradiating, 4/10 in intensity, intermittent with no aggravating or relieving factors. The abdominal pain was associated with nausea, vomiting, loss of appetite, and chronic diarrhea. He did not notice blood or mucous in his stool. The diarrhea was associated with a 50-pound weight loss over the past 6 months. Review of system was significant for persistent frontal headaches with on and off dizziness over the last few weeks. He did not have fever, neck stiffness, blurry vision, rash, trauma, or any other sick contacts.
Patient was recently admitted to another hospital with similar symptoms, and as per the records received, was treated for hypo-osmolar hyponatremia and discharged after the symptoms had improved. His past medical history was significant for hypertension. He had no previous surgical history. Family history was significant for hypertension in both parents. He drank 3 to 4 beers every weekend. He was born and raised in Honduras, came to the United States in 2004, and had recently moved from Connecticut to New York about 7 months ago. He had not traveled outside United States since he came to the United States and was living with his 2 sisters; none of whom had any similar symptoms.
On presentation the patient was afebrile, with heart rate of 89 beats/min, with blood pressure of 120/62 mm Hg, and an oxygen saturation of 98% on ambient air. On examination, he was cachectic, alert, and oriented, and had dry oral mucosa, sunken eyes, and appeared dehydrated. His cardiorespiratory examination was unremarkable. His abdomen was soft, mildly tender in the periumbilical area with hypoactive bowel sounds. Neurological examination was unremarkable. The initial labs on presentation are tabulated in Table .
He was started initially on hypertonic saline for hyponateremia and possible neurological manifestations secondary to hypovolemic hyponateremia secondary to gastrointestinal losses and later switched to 0.9% normal saline once the serum sodium had improved with resolution of headache and dizziness. The patient was started on antiemetics for vomiting and antibiotics (metronidazole and ciprofloxacin) for diarrhea. Stool studies could not be collected due to patients’ noncooperation and later the diarrhea resolved after 2 days of hospitalization. He also had improvement in his vomiting.
His serum sodium levels did not improve to normal values despite medical therapy (Fig. ). To evaluate the cause of his persistent hyponatremia, further work up was done that revealed a serum osmolarity of 246 mOsm/kg (275–295 mOsm/kg), urine osmolality 177 mOsm/kg water (300–900 mOsm/kg water), urine sodium <20 meq/L (40–220 meq/L). He had subclinical hyperthyroidism (low TSH, normal T3, and free thyroxine levels). A cortisol stimulation test was done to rule out any adrenal insufficiency as a cause of hyponatremia, which showed appropriate response. The serum sodium levels during the hospitalization are shown in Figure .
The results were consistent with the presence of syndrome of inappropriate antidiuretic hormone secretion (SIADH) as the etiology of this patient's hyponateremia, in addition to the gastrointestinal losses; 0.9% normal saline was discontinued, and he was started on free water restriction. To evaluate the cause of SIADH, further work up including CT scan of head and chest to rule out potential causes of SIADH was performed which were unremarkable. The human immunodeficiency virus (HIV) and rapid plasma reagin (RPR) testing were also negative. His hospital course was complicated with sudden worsening of vomiting and diffuse abdominal pain. A CT scan of abdomen was done for further evaluation, which showed partial small bowel obstruction without any mass. A nasogastric tube was placed, and he was managed conservatively with resolution of the obstruction, but he persistently had intractable vomiting. Considering the history of chronic diarrhea, weight loss, intractable vomiting, he underwent an esophagogastroduodenoscopy (EGD) to evaluate for a possible small bowel pathology. Interestingly, we found edema and widespread whitish spots consistent with intestinal lymphangiectasia in the duodenum (Fig. ). Biopsies were taken from the stomach and small bowel. He was started on restrictive medium chain triglyceride (MCT) diet (low fat, high protein diet). The pathology report from the GI biopsies was reported as presence of extensive strongyloidosis infection with lymphocytic and focal eosinophilic infiltrate (Figs. and ). He was started on ivermectin. It was recognized that he had systemic strongyloidosis with extensive gastrointestinal involvement as well as being the cause of his SIADH. We wanted to further evaluate the reason of systemic strongyloidosis as it is usually associated with immunosuppression. A human T-cell lymphotropic virus (HTLV) 1 and 2 serology was sent that was reported as positive. After starting treatment with ivermectin patient's symptoms improved with increase in serum sodium and patient was able to tolerate regular oral diet.
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pmc-6392755-1
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A 65-year-old woman presented with 5-day intermittent fever (up to 38 °C) and a 70 × 50 mm tender, fluctuant, and erythematous swelling of the left lumbar paravertebral region with black necrotic skin spot on the top of it (Fig. ). Previously she was treated at the regional hospital for severe gallstone pancreatitis for 23 days and discharged 2 months ago. She denied any other symptoms over the past 2 months. Abdominal computed tomography scan revealed retroperitoneal cylinder-shaped fluid collection with thick fibrous wall originating from the pancreatic body and tail and extending to the left flank (Fig. A). Incision of the swelling through the necrotic skin spot evacuated 350 mL of dark fluid. Amylase level in the fluid was in excess of 24,000 IU. Colostomy disc and bag were applied to collect further spontaneous outflow of pseudocyst content. Fever instantly resolved and the patient was managed conservatively with low-fat diet, oral pancreatic enzyme supplementation, and somatostatin analogue administered and ambulatory follow-up of the daily volume of fistula discharge. Over the next 37 days daily fistula output gradually reduced from initial 140 mL on the first day after the incision to nil with the spontaneous closure of the external skin fistula opening. Patient recovered uneventfully, follow-up computed tomography scan 2 months after the spontaneous fistula resolution was normal (Fig. B), and is asymptomatic.
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pmc-6392770-1
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A 2-month-old male, suffering fever, diarrhea, and vomiting, was admitted to the Health Sciences Center of the University of Oklahoma in 2014. Blood tests were performed immediately, and the results were as follows: hemoglobin, 9.6 g/L; leukocyte count, 33.1 × 109 cells/L (neutrophils 6%, lymphocytes 33%, monocytes 7%, and blasts 50%); and platelets, 186 × 109 cells/L. Bone marrow aspiration was performed and showed that the bone marrow was hypercellular with 50% blast cells. Also, the leukemic cells were negative for both myeloperoxidase and Sudan black B. Flow cytometric immunophenotypic analysis showed the leukemic cells were CD19(+), CD34(+), CD38(+), HLDR (+), moderately CD45(+), and partially CD15(+). There was no co-expression of CD10, CD20, surface immunoglobulin, CD13, CD33, CD117, or T-cell markers. No hepatomegaly or splenomegaly was observed. The patient was diagnosed with ALL, pre-B phenotype, based on the laboratory findings described above. After relapse, flow cytometric analysis was repeated and it showed similar marker patterns, CD19(+), CD34(+), CD38(+), HLDR (+), moderately CD45(+), and partially CD15(+). There was no co-expression of CD10, CD20, surface immunoglobulin, CD13, CD33, CD117, or T-cell markers.
Chromosome analysis of the bone marrow sample showed a 3-way translocation t (4;11;11) (q21;q23;p11.2), which resulted from translocation of the chromosome 4q21 segment to 11q23 and juxtaposition of the 11p11.2 segment to 4q21 (Fig. A). One of the 2 chromosome 11 had 2 breakpoints, with 1 on each arm. Breakpoints at 4q21 and 11q23 prompted us to search for a AFF1 and MLL rearrangement; however, fluorescence in situ hybridization (FISH) with a MLL/AFF1 dual-color dual-fusion probe revealed that only one MLL-AFF1 fusion signal was on the derivative chromosome 11, the distal part of the MLL gene was translocated to the short arm of the same derivative chromosome 11 on 11p11.2, and the proximal part of the AFF1 gene remained on the long arm of the derivative chromosome 4 (Fig. B). The above findings indicated that the patient had a variant translocation t (4;11) (q21;q23), having a new partner breakpoint on 11p11.2.
After receiving induction chemotherapy for 4 weeks, the patient achieved complete cytogenetic remission and the rearrangement of AFF1 and MLL was no longer detectable by FISH. After 10 months, the blood tests were repeated and revealed: hemoglobin, 11.5 g/L; leukocyte count, 2.37 × 109 cells/L; and platelets, 220 × 109 cells/L. A peripheral smear study was repeated because of delay in count recovery and showed 41% blasts, and because of a high number of peripheral blasts, the patient was suspected of relapse. Bone marrow aspiration revealed 80% blasts and a paucity of normal cells. The results of both the peripheral smear and bone marrow study were consistent with marrow relapse of leukemia.
We therefore characterized the cryptic and complex chromosomal rearrangements in this patient at relapse by both conventional chromosomal analysis and FISH assays. Most cells analyzed (14/20) by conventional chromosome analysis had consistent, complex structural rearrangements. Although at initial diagnosis the patient had a 3-way translocation between chromosomes 4 and 11 that resulted in a derivative chromosome 11 with 2 breakpoints on both the long and short arms with a large segment of chromosome 4 attached to the long arm of chromosome 11, the results at relapse showed that the derivative chromosome 11 had broken at the 11q12 region and joined to the homologous derivative chromosome 11 at 11q25, resulting in 2 derivative chromosomes 11. In other words, the leukemic cells did not have a single normal chromosome 11 (Fig. A). FISH assays showed that the distal part of the AFF1 gene was moved to the long arm of chromosome 11 (11q23), where the MLL gene is located, and then with a breakpoint at 11q12, translocated to the end of the long arm of the homologous derivative chromosome 11 at 11q25. The rest of the AFF1 gene remained on the long arm of the derivative chromosome 4; thus, the MLL-AFF1 fusion signal and the normal MLL gene were both on the homologous derivative chromosome 11, and another part of the MLL gene was on the derivative chromosome 11 (Fig. B). Next, hybridization with a MLL break apart probe revealed that the normal MLL gene and the 5’MLL gene were on the homologous derivative chromosome 11, and the 3’MLL gene was on the derivative chromosome 11 (Fig. C). Hybridization with a CCND1(11q13.2) break apart probe revealed that both CCND1 genes were on the homologous derivative chromosome 11 (Fig. D), indicating that the breakpoint on the derivative chromosome 11 was between 11q13.2 and the centromere. Furthermore, co-hybridization with FISH DNA probes NUP98(11p15)/CEP4/CEP11 indicated that one NUP98 gene was on the long arm of the derivative chromosome 4, whereas the other NUP98 gene was on the short arm of the homologous derivative chromosome 11 (Fig. E). Co-hybridization with FISH DNA-probe subtelomere 4q and 4p indicated that 1 subtelomere 4p signal was on the derivative chromosome 4, and 1 subtelomere 4q signal was on the homologous derivative chromosome 11 (Fig. F). The above assays revealed multiple translocations in different directions, as summarized in Figure G. Five breakpoints on three chromosomes were involved in these complex, multidirectional translocations. Starting from chromosome 4q21, the rearrangement followed this sequence: 4q21→11q23→11p11.2 →4q21 and then 11q12⇄11qter.
We also identified a second translocation between chromosomes 9 and 21 [der (21) t(9;21) (p13;p11.2)] in the karyotype at relapse (Fig. A). FISH analysis was then performed to further characterize these structural changes, using multiple DNA probes. Co-hybridization of whole chromosome 9 and 21 painting probes revealed that a part of the short arm of chromosome 9 was moved to chromosome 21, forming a derivative chromosome 21. Next, hybridization with CDKN2A(9p21)/CEP9 probe revealed a CDKN2A gene on derivative chromosome 21, and co-hybridization with subtelomere 9p and 9q indicated that subtelomere 9p was on the short arm of derivative 21 (Fig. A–C). The resulting karyotype was: 46, XY,der(4)(4pter→4q21::11p11.2→11pter),t(9;21)(p13;p11.2),der(11) (11qter → 11q23:: 11p11.2→11q12::11q25),der(11)(11pter→11q25:: 11q12→11q23:: 4q21→4qter) (Fig. A, 2G). Further array CGH analyses on a relapse specimen revealed no gain or loss on chromosomes 4, 9, 11, and 21 (Fig. ).
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pmc-6392842-1
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A 41-year-old woman presented to another institution with persistent left chest pain for 8 days, but no incident cause or other complaints. The chest pain was more severe when the patient took a deep breath. The patient had no history of recent surgery or deep venous thrombosis, she had never taken oral contraceptives, and she denied drinking alcohol and smoking cigarettes. A chest computed tomography (CT) scan showed scattered small ground-grass opacities in the bilateral lung field and a well-defined dense shadow in the left lung (Fig. A,B). Chest ultrasound confirmed left pleural effusion. The patient was diagnosed with double pneumonia and left pleural effusion. The patient received antibiotics for 8 days, which slightly alleviated the left chest pain. The patient was transferred to our hospital for further diagnosis and treatment. On admission her clinical parameters were body temperature 36.5°C, pulse 71 beats/min, respiratory rate 15 breaths/min, blood pressure 118/85 mm Hg, and oxygen saturation when breathing room air 98%. Physical examination was unremarkable. White blood cell count, liver function, kidney function, myocardial markers, and brain natriuretic peptide values were normal, and D-dimer level was 0.02 mg/L. A repeat chest CT scan on the first day after admission showed scattered small ground-grass opacities in the bilateral lung field, but no pleural effusion in the left lung (Fig. C,D). ECG revealed sinus rhythm and ST-T wave changes, and myocardial ischemia was suspected (Fig. ). Echocardiography showed that ejection fraction was 77%, the right ventricle end-diastolic diameter was 23 mm, tricuspid valve regurgitation, and a valve area of approximately 2.0 cm2. Abdominal ultrasound showed no abnormalities of the liver, gallbladder, pancreas, spleen, or kidney. Double pneumonia was suspected, and the patient was prescribed another course of antibiotics. Two days later, the patient's left chest pain was alleviated; however, a similar but more severe pain appeared in the right chest. Further clinical assessments showed the patient's D-dimer level was 0.08 mg/L, and chest CT scan revealed right pleural effusion had emerged (Fig. E). After discussion amongst the clinical team, a computed tomographic pulmonary angiography (CTPA) was performed. Findings were consistent with a PE in the right pulmonary artery (Fig. F–H), and a small amount of pleural effusion was seen on the right. No filling defects were seen in the bilateral lower limb veins.
The patient was treated according to the guidelines for the diagnosis and treatment of PE.[ Low-molecular-weight heparin calcium injection 4100 IU was administered twice daily by subcutaneous injection. Chest pain was fully alleviated after 6 days, and oral anticoagulant rivaroxaban was given after discharge. Three months later, a lung perfusion scan showed the PE in the right pulmonary artery had significantly improved, and ultrasound showed no evidence of pleural effusion (Fig. I–K).
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pmc-6392894-1
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This 12-year-old boy presented with autism and a history of hearing impairment in his right ear. He had been well until about 1 week before this presentation, when nausea, persistent abdominal distention, poor appetite, and reduced activity were noted by his parents. He did not have a fever or diarrhea. His family brought him to the Emergency Department of Cathay General Hospital on September 21, 2016. A physical examination at admission revealed a massively distended abdomen without muscle guarding or rebounding pain. The initial laboratory tests showed a white blood cell count of 9.88 × 103 cells/mm3 [normal reference (NR): 4–10 × 103/μL] with elevated segments (86.4%) [NR: 40–75%], normocytic anemia (Hb: 13.9 g/dL; MCV: 82 fL) [NR: Hb: 14–18 g/dL; MCV: 81–97 fL] and a C-reactive protein (CRP) level of 0.284 mg/dL [NR: 0.01–0.5 mg/dL]. Abdominal plain film revealed severe colonic distention with gas over his abdomen suggesting ileus (Fig. ). He was then admitted under the tentative diagnosis of abdominal distention with unknown cause, and intravenous metoclopramide was initially given empirically.
To rule out acute gastroenteritis or infectious colitis, we tested for rotavirus antigen which showed negative results, and a stool culture/analysis revealed no significant findings with no parasite ova or occult blood. Hirschsprung disease (HD) was actually not in our consideration. According to our patient's history, he did not fail to pass the meconium within 48 hours of delivery which is typical HD symptom. There were no vomiting green or brown substance, bloody diarrhea, swollen belly, excessive intestinal gas, and explosive stools after a doctor inserts a finger into the rectum before his age of 10. Therefore, HD could be excluded (Fig. ).
However, there was no clinical improvement even under parental metoclopramide and Bisacodyl spp. Abdominal ultrasound showed ascites and meteorism (Fig. ). The imaging findings combined with the persistent abdominal distention suggested mechanical ileus. We arranged computed tomography (CT) on the second day after admission which showed marked gaseous distention of the whole colon, and especially the sigmoid colon (with a maximum diameter of up to 7.3 cm). The small bowel did not seem to be dilated with fluid collection in the lower pelvic cavity; however, mesenteric artery rotation was noted (Figs. and ). We also discovered a transition point with an abrupt reduction in bowel caliber seen as a “beak” or “ace of spades sign in abdominal CT (Fig. ). A lower gastrointestinal study with a barium enema yielded marked tapering and luminal narrowing at the sigmoid colon and poor barium passage proximally, indicating nearly complete obstruction of the sigmoid colon which confirmed sigmoid colon volvulus (Fig. ). He then received laparotomy with mesosigmoidoplasty for detorsion of the sigmoid on the third day of admission. During laparotomy, insertion of a rectal tube with suction was performed, and the bowel distension resolved completely. In addition, 270° counterclockwise torsion of the sigmoid colon was confirmed during the operation. One day after surgery, a lower gastrointestinal series showed a redundant sigmoid colon (Fig. ). The postoperative recovery was smooth under empirical antibiotic treatment with cefazolin. A follow-up lower gastrointestinal series on the seventh day of admission showed no obstruction compared with the previous series. He was finally discharged in a stable condition 8 days after admission. With his following up in our outpatient department, he recovered well and experienced no adverse events in the 3 months postsurgery.
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pmc-6392906-1
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A 65-year-old male farmer was admitted to the dermatology department of Lishui Central Hospital in April 2016 with the chief complaint of erythema, pruritus, and ulceration of the perianal skin combined with cough, which lasted for 1 year. One year ago, patient had perianal erythema, accompanied by pruritus, ulceration, exudation, and pain. Further questioning revealed that the patient had been coughing several times a day. The patient occasionally had white sputum, without any hemoptysis, chest pain, low grade fever, night sweats, or any other discomfort. The patient had applied a variety of ointments for external use, without improvement. The erythema gradually expanded, affecting half of the hip on both sides of the crissum; an ulcer developed at the center of the erythema. Past medical history included hepatitis B for more than 10 years, and hypertension for about 3 years. The patient had surgical history of cholecystectomy at 39 years of age and denied previous history of TB, tumor, being engaged in risky sexual behaviors, or similar family history. Physical examinations included body temperature of 36.9°C, blood pressure 133/86 mm Hg, pulse rate 86 beats/min, breathing 20 times/min, double pulmonary breath sounded rough without obvious rales. Physical examination by specialist showed a large erythematous plaque of about 20 cm × 15 cm around the anus, skin ulcers could be seen nearly 4 cm range at the perianal area, and the base could be seen with fresh granulation, and few purulent secretions (See Fig. ). Blood routine test, liver and kidney function tests, treponema pallidum particle agglutination assay (TPPA), toluidine red unheated serum test (TRUST), combined detection of human immunodeficiency virus (HIV) antibodies, and HIV antigens were all negative or within normal ranges. The detection and screening of alpha-fetoprotein (AFP) tumor marker, carcinoembryonic antigen (CEA), squamous cell carcinoma antigen (SCC), total prostate specific antigen (TPSA), and free prostate-specific antigen (FPSA) were all normal. Blood sedimentation rate was 50.0 mm/h, TB DNA was positive, and TB antibody was positive. Acid-fast bacillus detection in sputum samples was ++++. Histological examination of perianal skin showed an ulcerative and necrotic area in the perianal skin, and peripheral epidermis had keratosis and hyperkeratosis. The stratum spinosum was proliferated, accompanied by intercellular edema. The whole dermis had epithelial-like cell mass, Langerhans giant cells could be seen, a large number of infiltrating lymphocytes were observed, and anti-acid staining was positive. Pathological diagnosis demonstrated (perianal skin) necrotic granulomatous lesions (TB). Special staining demonstrated acid-fast bacilli using acid-fast staining, periodic acid-Schiff stain (PAS) was negative (−), silver hexosamine stain was negative (−) (See Fig. ). Chest computed tomography (CT) scan showed symmetrical thorax, trachea moved to the right, and double lung marking increased and disordered. Diffuse nodular, flocculent, and striped high-density shadow could be seen in both the lungs, the edges were blurred, and the density was uneven. The partial lung tissues in both the upper lungs were consolidated and the cavity was formed. Hilus of the lung and mediastinal lymph nodes were not enlarged. The shape of the heart was not abnormal. There was no pleural effusion in the bilateral pleural cavity. Intrahepatic bile duct showed dilatation. Chest CT scan showed secondary pulmonary TB with cavitation in both upper lobes, and part of the right upper lung was damaged (See Fig. ). The results of abdominal enhanced CT showed intrahepatic bile duct dilatation and pneumobilia, gallbladder was not shown; splenomegaly, and multiple renal cysts in both the kidneys; possibility of duodenal descending diverticulum, and a little pneumatosis as a partial small intestinal obstruction. Admitting diagnosis showed perianal ulcerative skin TB, secondary bilateral pulmonary TB with possible cavity formation in the 2 upper lungs, TB bacillus was positive (+) in sputum smear. The patient was transferred to the infectious disease department for treatment, and was given with regular anti-TB treatment, which included isoniazid tablets 0.1 g/time, 3 times/day; rifampicin capsules 0.45 g/time, 1 time/day; ethambutol tablets 0.75 g/time, 1 time/day; pyrazinamide tablets 0.75 g/time, 2 times/day. The patient was discharged after 8 days of hospital treatment. M. tuberculosis in sputum smear was negative (−) at the time of discharge. Flushing and exudation of perianal skin were better than before. The patient was recommended to take regular anti-TB drugs for 6 months after discharge. After 6 months of discharge, the patient was followed up through telephone and replied that the ulcer had healed.
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pmc-6392946-1
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A 64-year-old woman with a history of hypertension and arrhythmia presented to the emergency room with severe pain and immobility in her left elbow, which resulted from a previous traffic accident. The patient complained of severe, painful limitation of motion on straightening or bending of the elbows, and her left hand was heavily bruised and swollen. Physical examination using palpation revealed burning and local tenderness. X-ray revealed a displaced fracture of the left olecranon with soft tissue swelling. The fracture was defined as a type IIA olecranon fracture according to the Mayo classification system.[ The orthopedic specialist suggested surgical open reduction with internal fixation, but the patient hesitated under the consideration of increased surgical risk due to her history of hypertension and arrhythmia. Therefore, the orthopedic surgeon fixed her left elbow with protective clothing only. Later that day, she visited our outpatient clinic to seek help from TCM.
In the first visit, we used the TCM methods for manipulative reduction of the fracture after physical examination. The physician held the patient's left palm in one hand and held the left elbow of the patient in the other hand. Next, the doctor pushed the proximal end of the patient's elbow with his finger to move closer to the distal end, and at the same time, straightened the patient's elbow slowly. Finally, the patient slowly buckled the elbow to 60°. It was then braced securely. We also asked the patient to avoid flexion and extension activities of the elbow and to fix the elbow with protective clothing for about 1 month, until her fracture had healed. That duration depended on X-ray interpretation to ensure complete union of the fracture. The protective clothing, similar to a triangular scarf, was for fixation and immobilization of the displaced olecranon fracture. The patient removed the protective clothing after about 1 month and then started rehabilitation. At the same time, we prescribed Chinese herbs, namely Jenq Guu Tzyy Jin Dan[ 3 g, Shen Tong Zhu Yu Tang[ 6 g, Corydalis Rhizoma[ 1 g, Ramulus Mori[ 1 g, Commiphora myrrha[ 1 g, and Boswellia carteri[ 1 g total daily dose divided by 3. The patient returned to monthly follow-up visits. We used the same prescription over the 3 to 4 months duration of the treatment. During the course of the treatment, we assessed the patient's condition with X-ray, the Mayo elbow performance score (MEPS),[ and the disabilities of the arm, shoulder, and hand (DASH) score ().[ After 3 to 4 months of treatment, pain and disability related to the fracture were improved following healing of the left olecranon fracture in which there was no longer a displacement. No complications resulting from the fracture were observed during the follow-up period.
X-ray images taken during the follow-up visits showed that the displaced fracture of the left olecranon with soft tissue swelling improved after manual reduction and medication with Chinese herbs (Fig. ). The elbow's range of motion ranged from 15° to 140 ° without pain (Fig. ) and improved from less than 50 ° s (MEPS motion score of 5) to more than 100 ° (MEPS motion score of 20). According to the MEPS score, pain intensity improved from 0 (severe) to 45 (none) points. Stability improved from gross instability (0 points) to stable (10 points). Before treatment, the patient was not able to perform any task that involved the function of the elbow (0 points); after 3 to 4 months of medication, she was able to comb her hair, feed herself, perform hygiene tasks, dress a shirt, and put on shoes (25 points). Overall, the MEPS score improved significantly from 5 to 100 points (χ2 = 123.92, P < .001) (Table ). Disability improved significantly from inability to no difficulty in performing some activities after treatment (χ2 = 66.86, P < .001). The severity of symptoms also improved in the last week of follow-up (χ2 = 14.11, P < .01) (Table ).
The reporting of this case was approved by the Institutional Review Board of Chang Gung Medical Foundation (IRB permit no. 201800095B0). The report was written after obtaining informed consent from the patient.
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pmc-6392963-1
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The patient was a 64-year-old man with destructive injury of both lower extremities due to a machine accident. His left ankle and heel bone, along with the soft tissue, were torn off, and the peripheral blood supply and sensation to the toes of the left foot were lost. We amputated his left leg below the knee. The left fibular head was retained after the left foot operation. Two months later, the patient came to our hospital for additional treatment after debridement of necrotic tissue operations twice. There was still approximately a 20 ×10-cm area on the right foot and right external ankle exposing the distal fibula fractures. X-ray showed that the right external ankle bony defect and the right medial ankle mortise widened; fortunately, the left fibular head was retained after left foot amputation (Fig. ). We reconstructed the right ankle using vascular anastomosis of the fibular head and a flap taken from the left stump. The Ethics Committee of the Second Affiliated Hospital of Soochow University approved the study.
We used an ultrasonic Doppler instrument (Model: ES-1000SPM Hayashi Denki Co., Ltd, Hong Kong China) to find the perforating branch of the peroneal artery before surgery, and near that location we created a flap approximately 20 × 10 cm in size according to the right foot wound (Fig. ). Surgery was performed with the patient under general anesthesia. The patient was placed in the supine position on the operating table with the left knee joint slightly bent and the left lower limb stump in internal torsion. The incision began in the popliteal space, swept down to the fibular head, and continued along the lateral peroneus muscles to the stump extremity. We cut the skin and subcutaneous tissue, then separated the peroneus longus and soleus muscles. We found the nervus peroneus communis on the inner posterior margin of the biceps femoris tendon and dissociated it for protection. The peroneal perforator was located in the intermuscular space between the peroneus longus and triceps surae muscles, then we freed the peroneal artery and 2 accompanying veins. We cut off the biceps femoris tendon, fibular collateral ligament and other muscle tissue attached to the fibula, extracted the fibular head, and then divided the superior tibiofibular joint. On release of the tourniquet, bleeding spots on the fibula and residual muscle tissue showed that the blood supply was satisfied. Therefore, we could then cut off the vessels and take the fibular head (Fig. ). We sewed the biceps femoris tendon and fibular collateral ligament with deep fascia around the lateral tibial plateau to avoid instability of the knee joint. We completely debrided bone splinters and necrotic soft tissue from the lower right limb and smoothed the edges. The free fibular head was fixated to the distal fibula with a fibular plate. The reconstructed inferior tibiofibular joint was reinforced with 3 lag screws before anastomosis of the vessels in the transplanted fibular head with the recipient area. Lastly, we made a suture flap in the wound and inserted rubber drainages (Fig. ).
Due to necrosis of the skin and soft tissue of the distal flap 7 days after the operation, part of the reconstructed external ankle bone was exposed, so we transferred the sural neurocutaneous vascular flap to repair the skin and soft tissue defects of the lateral malleolus. X-ray examination 3 months after the operation showed that the fracture had a bony union and the shape of the transplanted fibular head was similar to the normal external ankle. At 12-month follow-up, walking function had been recovered with the help of a left artificial limb (Fig. ). According to the Baird–Jackson scoring system, the curative effect was satisfied.
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pmc-6392964-1
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A 52-year-old male presented for a cosmetic consultation. He had skin laxity, mid-face and mandibular jowl ptosis, static crows-feet wrinkles, and deepening nasolabial fold (Fig. ). The patient was prone to receive procedure with minimal trauma. Considering skin laxity, we recommended this innovative technique combining thread lift with small incision rhytidectomy.
The patient had not received any treatment before. He underwent clinical assessment and routine preoperative examinations. Written informed consent was obtained from the patient. The principles of the 1975 Declaration of Helsinki were followed.
Thread line were designed and marked before the procedure. The surgical procedure was performed under local anesthesia. According to the markings, small needle knife[ was inserted at superficial muscular aponeurotic system (SMAS) layer to break ligaments and make pilot tunnels for thread cannulas. Absorbable poly(p-dioxanone) (PPDO) threads (Tianjin Dongnan Hengsheng Medical Technology, Tianjin, China.) with the following specifications were used: bidirectional barbed, 19 gauge, 150 mm length with blunt needle. Five threads were inserted on each side between the lateral aspect of nasolabial fold and laterally preauricular aspect in an oblique manner. Before removing cannulas, we manually pulled threads and the tissue to the lifted position. Genital pressure was applied over the skin to anchor the barbed thread inside the tissues. A small preauricular incision was made to excise excess skin and closed with 6-0 Prolene suture. The results were assessed objectively with serial photography and subjectively based on the patient's satisfaction.
Following the procedures, improvements of the crow's feet, nasolabial fold, and mid-face and lower face ptosis were observed. However, 10 days after the procedure, he complained of subcutaneous nodule with palpable knot at the left side (Fig. ). The patient did not feel pain or other discomfort. After discussing management options, which included observation, open surgical removal and so on, we attempted a minimal invasive approach. Under local anesthesia, small needle knife was inserted to break the fibrosis around the knot without cutting the thread. The fixation knot was preserved and 1 month later, the nodule was flattened and the knot was no longer palpable (Fig. ).
The patient tolerated the procedure well without bleeding or other complications. The incisions of rhytidectomy and small needle knife healed with nearly invisible scar. The cosmetic effect of thread lift remained and the skin quality was improved 3 months after the procedure (Fig. ).
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pmc-6392980-1
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A 38-year-old man was referred to our hospital for joint pain of the limbs for >4 months, fever for 10 days, and cough for 2 weeks. Before the current admission, he was treated with methylprednisolone tablets, tongfengding capsules, and lansoprazole tablets; however, his symptoms did not improve over time. He had no history of travel to any melioidosis epidemic areas or was not exposed to any animals. He was employed as an agricultural worker and had a history of heavy alcohol consumption and excessive smoking.
On physical examination, the patient was toxic with high-grade fever (39.5°C), blood pressure of 121/65 mmHg, pulse rate of 106 per minute and respiratory rate of 21 per minute. In addition, he reported having >4 months of the bilateral shoulder, elbow, wrist, knuckle, hip, knee, ankle and left sternoclavicular pain that aggravated while performing daily activities. This limited his mobility and caused an inability to walk.
Blood test results revealed a total leucocyte count of 13.7 × 109/L, including 92.3% neutrophils and 4.6% lymphocytes, platelet count of 841 × 109/L, and hemoglobin level of 68 g/L. The levels of fasting C-reactive protein (CRP) and procalcitonin (PCT) were 165.60 mg/L and 1.03 ng/ml, respectively. Erythrocyte sedimentation rate (ESR) was 143 mm/h, and rheumatoid factor (RF) was 30.30 IU/mL, which were markedly elevated compared with normal levels (ESR: 0–15 mm/h and RF: 0.0–20.0 IU/mL, respectively). Serum total bilirubin was 128.1 (1.00–28.0) μmol/L, total protein was 40.7 (65.0–85.0) g/L, albumin was 22.0 (40.0–55.0) g/L, alanine aminotransferase was 154 (9–50) U/L, aspartate transaminase was 214 (15–40) U/L, alkaline phosphatase was 269 (40–150) U/L, γ-glutamyl transferase was 1782 (10–60) U/L. The serum urea, creatinine, and uric acid levels were within the normal levels. Mycoplasma pneumoniae antibodies (both IgM and IgG) were detected using the Diagnostic Kit for Measurement of Antibodies to M pneumoniae (Passive Particle Agglutination) (FUJIREBIO INC, Tokyo Japan), and the mixed antibody titer was 1:160, indicating that the patient was likely infected with M pneumoniae . The chemiluminescence microparticle immunoassay was used to detect human immunodeficiency virus (HIV) antigen (p24)/antibody (HIV-1/HIV-2) combo and the Treponema pallidum antibody. The immune colloidal gold method was used to detect IgG antibodies against Mycobacterium tuberculosis. All of the test results were negative.
Chest contrast-enhanced computerized tomography (CECT) revealed multiple nodules, soft tissue mass shadows, and pulmonary cavitation in the lower zone of bilateral lungs; thus, a pulmonary abscess was considered. CECT of the hip joint showed the destruction of bone of bilateral acetabulum, femoral head, and proximal femur, and interruption of bone in the right femoral neck. Nuclear magnetic resonance imaging (MRI) revealed fluid and soft tissue swelling in bilateral hips. Therefore, infectious osteomyelitis was considered.
The staining results of direct smears prepared from sputum and joint fluid from the hips for mycobacteria and fungi were negative. The blood culture using the BD BACTECTM FX (Bactec-Becton, Dickinson) was positive. Sputum, joint fluid, and blood were subsequently submitted for routine cultures. Small colonies were cultured on the blood plate for 1 day. After 2 days, the colony with hemi-hemolytic had grown into a medium size, was gray-yellow, and was shaped like a wheel or chrysanthemum. Pinkish rugose colonies were observed on MacConkey's agar. The organism with turbid growth, and then formed a ruffled bacteria membrane in liquid culture. All the growth colonies had a strong foul musty odor. The 2 ends of the bacteria were concentrated with gram-negative bacteria and had multiple flagella in the single extreme. The results of conventional biochemical testing revealed that the organism could decompose glucose, lactose, maltose, mannitol, levo-ribose, and sucrose by producing acid but not gas. It was not able to decompose left wood. Additionally, the tests showed that the organism was positive for phosphatase, oxidase, nitrate reductase, and had a negative reaction when tested for urea, tellurite, acetamide, citrate, malonate, esculin, lysine, tryptophan, and DNase. A microorganism identification test was conducted using the Microflex LT/SH system (Bruker Daltonics) and the results suggested that the organism was B pseudomallei as was suspected. Antibiotic susceptibility testing using the BD Phoenix 100 system showed that the organism was sensitive to trimethoprim/sulfamethoxazole, ticarcillin/clavulanic acid, piperacillin/tazobactam, piperacillin, levofloxacin, meropenem, ciprofloxacin, co-trimoxazole, ceftazidime, and imipenem and resistant to amikacin, aztreonam, tobramycin, and gentamicin.
On the basis of the culture results and the antibiotic susceptibility testing, the patient received 2 g of intravenous ceftazidime every 8 hours and 0.3 g of intravenous levofloxacin every 12 hours, in conjunction with proper nutrition therapy.
His fever and cough resolved after 7 days. The sputum culture was negative after 4 weeks and the blood culture was negative after 7 weeks. Chest CECT showed remarkable absorption of the pulmonary abscess after 2 months; however, there was still a small number of effusions in bilateral hips observed using MRI, and B pseudomallei was still isolated from the joint effusions. After 2 days of hospitalization, discharge plans were made as per the patient's request; the patient did not develop any complications during treatment in the hospital. Out-of-hospital treatment continued with 2 960 mg tablets of oral co-trimoxazole every 12 hourly for another 6 months and he was seen for follow-up visits once a month. At the 6-month follow-up visit, his joint effusions had disappeared without relapse. The diagnosis and treatment information for this case are summarized in Figure .
This study was prospectively performed and approved by the Institutional Ethics Committees of the First Affiliated Hospital of Guangxi University of Chinese Medicine and conducted according to the ethical guidelines of the Declaration of Helsinki. The patient gave written informed consent for publication.
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pmc-6392995-1
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The patient, a 44-year-old man, presented to the emergency department with a 2-day history of abdominal pain and hematochezia. The abdominal pain became worse and had no relieving factors. There was no history of fever, chills, or chest pain. A few hours later, he was then transferred to the intensive care unit because of septic shock, paralytic ileus, and acute respiratory failure. His medical and surgical history was unremarkable except for hypertension controlled with amlodipine. His social history was occasional smoking and intermittent crystal meth use weekly during the last 4 years and a binge of crystal meth abuse 2 days ago.
The patient's temperature was 37.1 °C, blood pressure was 86/55 mm Hg, heart rate was 130 beats/minute, respiratory rate was 30 breaths/minute, and saturation of pulse oximetry was 85%. His physical exam was remarkable for tenderness to palpation in the right lower quadrant, a tense and distended abdomen, diminished bowel sounds, and absence of rebound tenderness. The remainder of the physical examination, including a rectal examination, was unremarkable. Initial laboratory analysis revealed that the patient had a white blood cell count of 12.0 × 109 cells/L (its reference value is 3.5 × 109 to 9.5 × 109 cells/L) with 85% neutrophils (its reference value is 40%–75%), hemoglobin of 162 g/L (its reference value is 130–175 g/L), serum procalcitonin of 52.15 ng/mL (its reference value is <0.5 ng/mL), arterial pH of 7.30 (its reference value is 7.35–7.45), PaO2/FiO2 of 97.8 mm Hg, base deficit of −7.3 mmol/L (its reference value is −2.3 to +2.3 mmol/L), and lactic acid of 9.5 mmol/L (its reference value is <2 mmol/L). The computerized tomography (CT) scan of the abdomen showed dilation of the entire small bowel (Fig. ).
The patient was treated with fluid resuscitation, broad-spectrum antibiotics, and bowel rest. His physiologic abnormalities were corrected except the diminished bowel sounds after 6 days of treatment.
On hospital day 10, however, the patient's abdominal pain presented once again and worsened rapidly. He was in obvious distress. Heart rate was 140 beats/minute, blood pressure was 82/50 mm Hg, and respiratory rate was 35 breaths/minute. The physical exam revealed diffuse rebound tenderness and distended abdomen. An abdominal CT scan was performed repeatedly. The CT scan demonstrated cholecystitis, celiac free gases, gas-fluid levels were found in the dilated small intestine, which suggested perforation of hollow viscus (Fig. ).
The patient was taken to the operating room immediately for surgical exploration. He underwent an exploratory laparotomy that revealed gangrenous cholecystitis with perforation, edema, and distension of entire small bowel. No perforation, obstruction, or torsion of the bowel was noted. The patient underwent cholecystectomy and bile duct exploration. Histopathologic signs of the cholecyst showed mucosal necrosis and small arterial thrombosis (Fig. ).
After fluid resuscitation and antibiotics administration, the hemodynamics was stabilized, the abdominal pain and distention were relieved, and the patient was extubated on the second postoperative day.
On the fourth postoperative day, however, the patient developed massive gastrointestinal hemorrhage, hypotension, and worsening abdominal tenderness again.
Laboratory analysis revealed an elevated white blood cell count of 16.9 × 109 cells/L, hemoglobin of 89 g/L, and an elevated lactic acid of 5.5 mmol/L. Esophagogastroscopy, colonoscopy, and capsule endoscopy demonstrated edema, bleeding, and multiple ulcerations in the jejunoileal mucosa and normal mucosa in stomach and colon (Fig. ).
Furthermore, the patient received angiogram. The findings of abdominal CT angiogram included aortic dissection involving the coeliac artery and the superior mesenteric artery (SMA), nonocclusive thrombosis of the SMA as well as some of its distal branches and bowel wall edema (Fig. ).
Following fluid resuscitation, the patient was taken to operation room for emergency exploratory laparotomy once again. Intraoperatively, generalized dilatation with edema of small intestine was found, and an isolated ulcer with perforation of 0.7 cm and active hemorrhage also were found in the jejunum, which was 50 cm distal to the ligament of Traitz, and the surrounding jejunum mucosa presented active bleeding. The patient underwent resection of approximately 20 cm of frankly hemorrhagic jejunum with a jejunostomy. Macroscopic appearance of the resected specimen showed the mucosal ulcer and congestion (Fig. ).
Histopathologic signs of the resected jejunal specimen demonstrated extensive inflammation, vascular congestion, and multiple ulcerations, one of the ulcerations resulted in small bowel perforation as well as intraperitoneal hemorrhage, inflammatory cell exudates along with submucosal edema (Fig. ).
Upon the suspicion of extensive inflammation, multiple ulcerations, and nonocclusive thrombosis due to small vessel disease of intestine, workups for autoimmune diseases such as lupus and thrombophilia-including tests for antinuclear antibody, anti-ds DNA, protein C, protein S, antithrombin III, and antiphospholipid antibody were negative.
Moreover, the patient did not have any risk factors or clinical manifestations for small intestine ulcer diseases, such as inflammatory intestinal disease, malignancy, and virus infection. The tests for human immunodeficiency virus, Epstein–Barr virus, and cytomegalovirus were negative.
On postoperative day 2, the hemodynamics was stabilized, lactic acid was normal, no gastrointestinal hemorrhage, and the patient was extubated.
The patient was subsequently discharged. Currently, he tolerates oral intake and he has now stopped using crystal meth or any other recreational drugs.
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pmc-6392998-1
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In April 2017, a 46-year-old man was admitted to our hospital complaining of upper abdominal pain for 10 days. The patient reported a 3-year history of recurrent pancreatitis and a concurrent generalized body rash. The patient had a history of alcohol consumption and his father died of pancreatic cancer. On physical examination, there was direct tenderness but no rebound tenderness in the upper abdomen. No palpable mass, no rash was observed. Laboratory tests results: white blood cell count (WBC), 11.0 × 109/L (normal, 4.0–10.0 × 109/L); neutrophils proportion, 85.1% (normal, 50.0–75.0%); hemoglobin (HB), 108.0 g/L (normal, 120.0–160.0 g/L); serum total bilirubin (TB), 67.8 μmol/L (normal, 1.7–17.1 μmol/L); direct bilirubin (DB), 60.6 μmol/L (normal, 0–5.1 μmol/L); γ-glutamyltransferase (GGT), 454.1 U/L (normal, 10.0–71.0 μmol/L); the remainder of liver function tests were within normal limits; serum amylase (AMY), 883.4 IU/L (normal, 28.0–100.0 IU/L); tumor marker carbohydrate antigen 19–9 (CA 19–9), 30.8 U/mL (normal, 0–37.0 U/mL). In addition, abdominal computed tomography (CT) revealed pancreatic calcification, multiple small cystic lesions in the head of the pancreas, the biggest on measured 1.2 × 1.1 cm, and a 6.5 × 5.7 cm cystic lesion adherent to the tail of the pancreas. Magnetic resonance cholangiopancreatography (MRCP) showed cholecystitis, irregular dilation of pancreatic duct and dilation of bile duct, and demonstrated the same lesions of the pancreas as CT scan revealed (Fig. ).
The patient also suffered from pneumonia on admission and received levofloxacin 500 mg once daily according to the sputum culture and drug sensitivity test, and he was also under the treatment to pancreatitis including fasting, fluid resuscitation, and inhibition of secretion pancreas. Three weeks later, pneumonia was cured and the symptom of upper abdominal pain was relieved. Laboratory tests including blood routine examination, liver function tests, and serum amylase returned to normal. However, he developed rash erythematous, subcutaneous nodules with unclear boundary about 1.5 cm in diameter without heat involving upper and lower limbs, hands, and lower abdomen bilaterally. An abdominal CT reexamination showed that cystic lesions in the head of the pancreas became enlarged, the biggest measured 3.1 × 2.8 cm, and cystic lesion next to the tail of the pancreas grew bigger and separated into 2 chambers about 8.1 × 6.6 cm and 5.2 × 4.1 cm in size respectively (Fig. ). The patient's blood glucose and serum glucagon was tested and the results were within normal ranges.
Then, an endoscopic retrograde cholangiopancreatography (ERCP) was performed and showed that the opening of major duodenal papilla was normal and pancreatic juice was clear and transparent without mucus. Cholangiopancreatography depicted bile duct stenosis in intrapancreatic segment and proximal dilation, with duct stenosis in pancreatic head and distal dilation in the body and tail. A bile duct stent and a pancreatic duct stent was then placed. The patient received drug treatment after operation and recovered smoothly, abdominal pain relieved and the skin rash faded 3 weeks later. Laboratory tests including blood routine examination, liver function tests, and serum amylase were within normal ranges and abdominal CT reexamination showed that cystic lesion both in the head and tail of the pancreas reduced obviously 1 week later and disappeared 6 weeks later (Fig. ).
The informed consent form of the patient is signed.
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pmc-6393009-1
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An 80-year-old man who was diagnosed with esophageal cancer with lung metastasis s/p CCRT, s/p esophagectomy with substernal gastric tube reconstruction was orotracheally intubated with a 7.5 mm-sized endotracheal tube (OD: 10.2 mm) because he suffered from pneumonia and left lung atelectasis-induced respiratory failure. He was treated with a covered self-expandable metallic bronchial stent (BONASTENT, Nitinol, 14 mm × 40 mm) by the pulmonologist to improve left main bronchial obstruction. The uppermost location of the tip of the stent was about 1.5 cm above the carina (Fig. ). Because of difficult weaning from the mechanical ventilation, elective tracheostomy was scheduled. During the surgery, general anesthesia was administered and his pulmonary ventilation was via the endotracheal tube; then, shifted to via a tracheostomy tube size 7.5 mm after the tracheostoma had created. However, airway pressure elevated suddenly and capnography showed that almost no end-tidal CO2 went out then patient started to desaturate <90%. Anesthesiologist applied fiberoptic tracheoscopy to check the trachea and found that the tracheostomy tube was in correct place but the trachea was stenostic due to the bronchial stent had dislocated to the trachea. Then, the anesthesiologist threaded a 5.0-sized endotracheal tube (OD: 6.9 mm) combined with an Eschmann tracheal tube introducer via the tracheostomy tube (Fig. ) attempting to prop up the stent. After that, the ventilation was restored with end-tidal CO2 detected and acceptable airway pressure. The process of desaturation was within 5 minutes. Afterward, the pulmonologist who was called emergently arrived and checked with fiberoptic bronchoscopy and found that the bronchial stent was re-expanded but threaded into right main bronchus with patent airway (Fig. ). Because of hesitate of family, the original stent was removed endoscopically by pulmonologist eventually and a new bronchial stent was re-placed to left bronchus in following days. After 3 weeks, the patient was died due to septic shock.
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pmc-6393021-1
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A 47-year-old woman was admitted to our hospital because of severe constipation with difficulty in the passage of both gas and feces for 7 days. Approximately 3 weeks before admission into our hospital, she had been diagnosed with renal inadequacy at a local hospital. Blood tests at that hospital revealed a serum creatinine (SCr) level of 238 μmol/L (normal range, 40–106 μmol/L) and a blood urea nitrogen (BUN) level of 14.6 μmol/L (normal range, 1.7–8.3 μmol/L). During the course of medical treatment for her renal condition, she developed ileus. Upon presenting to our hospital, she reported no history of abdominal surgery. An examination revealed mild tenderness in the epigastrium on palpation, with slightly increased muscle tone and no rebound tenderness. Abdominal auscultation showed decreased bowel sounds (about 3 per minute). An abdominal computed tomography scan displayed small intestinal obstruction (Fig. ). Laboratory tests revealed the following: SCr, 255.4 μmol/L (normal range, 46–92 μmol/L); BUN, 18.53 μmol/L (2.5–6.1 μmol/L); blood calcium, 3.49 μmol/L (2.10–2.55 μmol/L); white cell count, 9.34 × 109/L (3.5 × 109–9.5 × 109/L); neutrophil count, 6.97 × 109/L (1.8 × 109–6.3 × 109/L; 75% of all white cells); hemoglobin, 98 g/L (115–150 g/L); and platelet count, 272 × 109/L (125 × 109–350 × 109/L). Owing to the increased blood calcium level, hyperparathyroidism was suspected; however, the parathyroid hormone (PTH) level was found to be normal (PTH, 14 pg/mL; reference range, 12–88 pg/mL).
The patient was diagnosed with a small intestinal obstruction, renal inadequacy, hypercalcemia, and mild anemia. Conservative treatment was administered for the intestinal obstruction, consisting of food and water deprivation, gastrointestinal decompression, colonic irrigation, intravenous fluid transfusion, anti-inflammatory therapy, and octreotide Sandostatin (1ml:1mg, provided by Novartis Pharma Stein AG, Switzerland). Although receiving this conservative therapy, the patient developed type II respiratory failure. At that time, her blood calcium level was 3.70 μmol/L. Invasive respiratory support was provided, and salmon calcitonin (1ml:50IU, provided by Novartis Pharma Stein AG, Switzerland) was used to reduce the blood calcium level. Additionally, we performed tests for inorganic phosphorus, serous free-λ light chains, B2-microglobulin, and 24-hour urinary λ-light chains and κ-light chains to explore the etiopathogenesis of the hypercalcemia. The results (and normal ranges) were as follows: 24-hour urinary λ-light chains, 1035.00 mg/24 h (<7.8 mg/24 h); serous free-λ light chains, >1230 mg/L (8.30–27.00 mg/L); and B2-microglobulin, 20.00 mg/L (0.7–1.8 mg/L). From these results, multiple myeloma was suspected. Therefore, a bone marrow needle biopsy was performed, and the results confirmed a diagnosis of multiple myeloma (Figs. and ). After 3 days of intravenous fluid transfusion and salmon calcitonin therapy, the patient's blood calcium level decreased to 2.72 μmol/L, and spontaneous respiration and gastrointestinal function were restored. She also was able to pass gas and feces, and resume her usual diet. She was then transferred to the Department of Hematology and Oncology in our hospital to receive therapy for multiple myeloma, and the subsequent treatment was not under our care.
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pmc-6393027-1
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A 45-year-old Chinese man was admitted to Peking Union Medical College Hospital (PUMCH) in April 2016 because of progressively worsening palpitation and hand tremor during the previous 6 months together with 4 years of mild weakness, heat intolerance, increased perspiration, and growing appetite, which were previously spontaneously alleviated. His past and family histories were unremarkable, with no history of thyroidectomy, and findings from a general physical examination were also unremarkable. The patient did not seek medical services until February 2016. In the local hospital, the thyroid function tests demonstrated elevated levels of free thyroxine (FT4; 40.04 pmol/L; reference range, 12–22 pmol/L) and free triiodothyronine (FT3; 17.02 pmol/L; reference range, 3.1–6.8 pmol/L) in the presence of normal levels of TSH (4.15 mIU/L; reference range, 0.27–4.2 mIU/L). The results of a dynamic electrocardiogram demonstrated arrhythmias, including transient atrial tachycardia, paroxysmal atrial fibrillation, and ventricular and atrial premature beats. Thyroid ultrasound examination results indicated cystic nodules in both thyroid lobes and diffuse enlargement of the thyroid gland. Thyroid scintigraphy findings showed normal radionuclide uptake. Thus, the patient was initially diagnosed as having central hyperthyroidism and suspected TSHoma although a brain MRI was not conducted.
On his admission to PUMCH, further examinations were performed to confirm or reject the suspected TSHoma. Thyroid function tests were conducted in a biochemical laboratory to determine whether the previously reported FT3 and FT4 levels had been falsely elevated by the measurement methods used. However, our results still identified high FT3 and FT4 concentrations in the presence of unsuppressed TSH (Table ). The serum sex hormone-binding globulin level was elevated (105.08 nmol/L; reference range, 18.3–54.1 nmol/L). Unfortunately, triiodothyronine (T3) suppression tests and thyrotropin-releasing hormone (TRH) stimulation tests were not available at PUMCH. The pituitary function was comprehensively evaluated and showed no co-secretion of growth hormone (GH) and prolactin (PRL) (Table ). Mutations in the gene encoding thyroid hormone receptor β (THRB) were not identified. The ophthalmology testing demonstrated no visual disturbance. A contrast-enhanced dynamic MRI of the pituitary showed an intrasellar microadenoma on the right side of the region measuring 4 mm × 6 mm × 6 mm. The lesion signal was hypointense on T1-weighted imaging (T1WI), hypointense on T2-weighted imaging (T2WI), and hypoenhanced on contrast-enhanced T1WI (Fig. ). Together, these results strongly supported a diagnosis of TSHoma. A TSH suppression test was performed following the administration of octreotide acetate (0.1 mg, subcutaneously, once; sampling after 0, 2, 4, 6, 8, 24, and 72 hours; TSH levels were measured), and a marked reduction (>50%) in TSH levels, which is considered characteristic of TSHoma, was not observed. Thus, an additional TSH suppression test was conducted with bromocriptine mesylate administration (2.5 mg, orally, once; sampling after 0, 2, 4, 6, and 8 hours; TSH levels were measured) and the results demonstrated a notable suppression (61.2%) of TSH levels (Table ). Therefore, the diagnosis of TSHoma was confirmed based on clinical manifestations, laboratory results, pituitary MRI findings, and TSH suppression test results. Propranolol (10 mg, orally, 3 times a day) was administered to control arrhythmia and tachycardia. The patient was also administered bromocriptine (2.5 mg, orally, every 8 hours) for 10 days to normalize thyroid function prior to surgery. A change in tumor volume was not detected. Bromocriptine was then discontinued and replaced by octreotide (0.1 mg, intramuscularly, once a day) for 3 days, resulting in recurrence of hyperthyroidism and related symptoms. Considering the ineffectiveness of the preoperative octreotide therapy, bromocriptine was reinstated as before for another 3 days, leading to the rapid normalization of thyroid function. A transsphenoidal adenomectomy was then performed. During the procedure, the grayish white lesion was totally resected, and leakage of cerebrospinal fluid did not occur. The histology results indicated that the lesion was a pituitary adenoma, and most neoplastic cells were strongly immunopositive for TSH and GH, whereas all neoplastic cells were immunonegative for PRL (Fig. ). On the first day after surgery, thyroid function tests demonstrated a significant reduction in TSH levels and normal levels of FT3 and FT4 (Table ). The postoperative course was otherwise uneventful. The patient was discharged on the fourth day after surgery. The patient was recommended to continue taking propranolol (10 mg, 3 times a day) and to use hydrocortisone for 2 weeks (week 1: 20 mg, once a day; week 2: 10 mg, once a day). At the 3-month follow-up visit, the results of thyroid function tests were within reference limits (Table ), and pituitary MRI showed a normal pituitary gland with no recurrent or residual tumor (Fig. ). At the 6-month follow-up, there were no signs or symptoms of hyperthyroidism or mass effects in the sellar region of our patient.
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pmc-6393032-1
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A 14-year-old boy was referred to our hospital owing to foot injury sustained on jumping off about 10 stairs. Physical examination showed swelling and tenderness around his right ankle. Radiography and computed tomography (CT) showed a highly displaced talus body fracture of the dome and the posterior process and avulsion fracture of navicular bone (Fig. ). Closed reduction was performed under the sciatic nerve and saphenous nerve block on the same day and the plaster cast was used to prevent displacement. Because the Linhart classification[ of this case was III-C and instability persisted, we planned the surgery. Four days after the injury, we performed arthroscopic-assisted reduction and internal fixation (ARIF) using headless screws (Acutrak Standard; Acumed, Hillsboro, OR) and an external fixator (TrueLoK Ring Fixation System; Orthofix GmbH, Ottobrunn, Germany) under general anesthesia. First we maintained the reduced position by setting the external fixator. Then we inserted 2 headless screws in an anteroposterior direction percutaneously by compressing the back of the talus with Kirshner wires curved like olive wires. Before the insertion of the screws, we confirmed that the step off was almost reduced by arthroscopy (Fig. ). Figure shows the postoperative radiographs. At the 8-week follow-up, we observed Hawkins sign (Fig. ) in the anteroposterior radiograph. We confirmed bone union by CT at the 3-month follow-up and removed the external fixator. After the removal of the external fixator, we advised the patient to walk with a patella tendon-bearing ankle foot orthosis. Magnetic resonance imaging (MRI) after the removal of the external fixator revealed hyperemia of the talus body (Fig. A,B). MRI at the 6-month follow-up showed resolution of hyperemia and the bone signal was restored to normal intensity (Fig. C, D). Partial weight-bearing walking was then initiated. He was able to walk with full weight bearing 8 months after the operation. At the 1-year follow-up, his Japanese Orthopaedic Association score recovered from 9 points before the surgery to 95 points. The range of motion of dorsiflexion and plantarflexion was 10° and 60°, respectively, which were similar to that on the left side. No signs of bone necrosis or arthrosis were observed on imaging (Fig. ).
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pmc-6393035-1
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A 69-year-old Caucasian man presented with a dark-brown to black pigmented macula on the glans and foreskin of several years duration. The asymptomatic pigmented lesion had rapidly enlarged in the last few months (Fig. ). The patient came to the plastic surgical team after that the urologists performed excision of the foreskin and some biopsies on the glans to made the diagnosis of the lesion. Histological examination showed a diagnosis of MIS (Fig. ).
The surgical treatment consisted to excise the lesion with a healthy margin of 1 cm all over except close to the urethral meatus where it was impossible and where only 5 mm of free margin was excised. A full thickness mucosal graft from oral cavity was performed to repair the defect on the glans after the wide excision of MIS (Fig. ). At the sixth clinical follow-up the patient was alive and disease free at 50 months after surgery (Fig. ). Moreover, no lower urinary tract symptoms and erectile dysfunction were observed.
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pmc-6393068-1
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Our case was a 48-year-old woman with a painless tumor about 1.5 × 1.0 cm in her left breast for 4 months. She was admitted to our hospital in August, 2014. There were no enlarged ALNs on palpation or ultrasonography. Pathology result of preoperative core needle biopsy confirmed invasive ductal carcinoma. Imaging examination found no metastases in bone or liver. The clinical stage for this patient was cT1cN0M0, IA. She received total mastectomy and A-SLNB and IM-SLNB on August 29, 2014. Under the guidance of ultrasound, 37 MBq of 99mTc-labeled sulfur colloid (99mTc-SC) (1.2 mL volume) was injected into the mammary gland at 6 and 12 o’clock of the areola surrounding area (modified injection technique) 15 hours before surgery. Preoperative lymphoscintigraphy revealed that there was a “hot-spot” in third intercostal space (Fig. ). Blue dye (4 mL) was injected subcutaneously around the tumor 10 minutes before surgery. Three ASLNs were found with blue dye combined with 99mTc-SC. And the last ASLN was found with 99mTc-SC only. Intraoperative rapid frozen section pathology and touch imprint cytology showed that all of them were negative. After total mastectomy, the first IMSLN was found by the hand-held gamma probe in the third intercostal space as the lymphoscintigraphy revealed. Then IM-SLNB was performed using the mastectomy incision. From the position where IMSLN was located, intercostal muscle fibers were cut off to expose the intercostal space. Then IMSLN was removed and the procedure lasted 10 minutes. In the second intercostal space, we found another IMSLN using gamma probe. This IMSLN was removed in the same way and the procedure lasted only 4 minutes. Both of them are located outside the internal mammary blood vessel. The first IMSLN was about 5 mm in diameter and nuclide count was 10, it did contain metastases after routine pathology. The second IMSLN was about 3 mm in diameter, and the nuclide count was 2, it was negative in the end. The routine pathology indicated: (left breast) invasive ductal carcinoma (1.5 × 1.2 cm), grade II, ASLN (0/4), IMSLN (1/2). The immune-histochemical (IHC) finding presented: ER (−), PR (−) and HER-2 negative (1+), the Ki-67 labeling index was about 60% to 70%. The final pathological stage for this patient was pT1cN1bM0, II A. After performing IM-SLNB, nodal staging of this patient increased (from N0 to N1b). According to the 2017 National Comprehensive Cancer Network (NCCN) Guidelines,[ this patient received dose-dense AC (Pharmorubicin 100 mg/m2 d1 q21d + Cyclophosphamide 600 mg/m2 d1 q21d) ×4 times followed by P (Paclitaxel 175 mg/m2 d1 q14d) × 4 times for chemotherapy. If IM-SLNB had not been conducted, it is adequate to use TC (Docetaxel 75 mg/m2 d1 q21d + Cyclophosphamide 600 mg/m2 d1 q21d) × 4 times for chemotherapy in such a low-risk patient. In the choice of irradiation, she finally received irradiation therapy include chest wall, superclavicular region and internal mammary nodes. It is important to note that IM-SLNB has changed adjuvant chemotherapy and irradiation strategy.
The study was approved by the Shandong Cancer Hospital Affiliated to Shandong University Ethics Committee. Informed consent was obtained from this patient for the publication of this case report.
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pmc-6393095-1
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A 66-year-old woman with a history of type 2 diabetes mellitus presented with elevated serum C-reactive protein (CRP) (6.15 mg/dL, normal range <0.35 mg/dL) at a regular checkup without any symptoms in June 2017. CT findings revealed a soft tissue mass involving the aortic root, aortic arch, descending thoracic and abdominal aorta, and left iliac artery. Paraaortic mass lesions were identified adjacent to the thoracic spine. She was admitted to our hospital for further workup. Physical examination revealed a normal blood pressure of 138/88 mmHg and body temperature of 36.6 °C. The findings of ocular, face, neck, lungs, cardiovascular, abdominal, neurological, and skin examinations were normal. Laboratory tests showed elevated serum IgG (2004 mg/dL, normal range: 870–1700 mg/dL), IgG4 (276 mg/dL, normal range: 4.8–105 mg/dL), and soluble interleukin-2 receptor (sIL-2R; 502 U/mL, normal range: 142–500 U/mL). Serum immunoglobulin E (IgE) level was within the normal range. Other blood tests including blood count, serum electrolytes, liver enzyme levels, and serum creatinine were within the normal range. The enzyme-linked tuberculosis immunospot assay (ELISPOT) T-SPOT.TB (Oxford Immunotec, Oxford, UK), antinuclear antibody (ANA), rheumatoid factor (RF), and anti-neutrophil cytoplasmic antibody (ANCA) were negative. C3 and C4 were within the normal range. Serum interleukin-6 (IL-6) level was elevated (5.4 pg/mL, normal range 0–4.0 pg/mL). Blood cultures did not identify any pathogens. Antibodies to syphilis were negative. Urinalysis showed no proteinuria, hematuria, white blood cells, or casts. Chest x-ray revealed small pleural effusions. A contrast-enhanced CT demonstrated interval enlargement of the mass around the aorta and development of left hydronephrosis (Fig. A–C). IgG4-related FM/retroperitoneal fibrosis was suspected. We performed CT-guided percutaneous needle biopsy of the paravertebral mass. Histological findings showed dense lymphoplasmacytic infiltration along with storiform fibrosis (Fig. A and B). Massive infiltration of CD163+ M2 macrophages in the fibrotic lesions (Fig. C and D) and hyperplastic ectopic germinal center formation (Fig. E and F) were observed. Immunohistochemical staining showed that >40% of plasma cells with IgG immunoreactivity (Fig. G) were positively immunolabeled with the IgG4 antibody (Fig. H). The ectopic germinal centers consisted of CD3+ T cells (Fig. I) and CD20+ B cells (Fig. J). We diagnosed IgG4-related FM/retroperitoneal fibrosis based on the 2011 comprehensive diagnostic criteria.[ She received 30 mg/d (0.6 mg/kg) of prednisolone (PSL) as induction therapy. Kidney ultrasound performed 14 days after initiation of therapy revealed improvement of the left hydronephrosis. After 3 months, the levels of serum IgG4 and CRP had decreased to 78 and 0.06 mg/dL, respectively. CT findings also revealed remarkable improvement of the mass around the thoracic aorta and of the hydronephorosis (Fig. D–F). The dose of PSL was gradually tapered. There was no recurrence over 6 months.
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pmc-6393095-2
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A 78-year-old woman with a history of type 2 diabetes mellitus, fatty liver, hypertension, and cholecystitis was found to have an abnormal mediastinal contour on chest x-ray on a routine health checkup in November 2016. She visited another hospital and her laboratory data showed elevated serum IgG (4164 mg/dL) and IgG4 (1170 mg/dL). CT findings revealed soft tissue masses involving the aortic arch, abdominal aorta, and perivertebral thoracic soft tissues (Fig. A–C). Retroperitoneal, mediastinal, paraaortic, and pelvic lymphadenopathy were also found. She was admitted to our hospital for further workup in April 2017. Physical examination revealed a blood pressure of 137/90 mmHg and body temperature of 36.6 °C. Laboratory tests revealed elevated serum IgG (3685 mg/dL), IgG4 (1940 mg/dL), IgE (290 IU/mL), and sIL-2R (1061 U/mL). Other blood tests, including blood count, serum electrolytes, serum creatinine, and CRP, were within the normal range. Serum liver enzymes were slightly elevated, possibly due to her fatty liver: aspartate aminotransferase (54 U/L, normal range 10–35 U/L), alanine aminotransferase (45 U/L, normal range 5–40 U/L), alkaline phosphatase (391 U/L, normal range 100–320 U/L), and γ-GTP (42 U/L, normal range 5–40 U/L). The ANA titer was 1:160 (homogeneous, speckled pattern) and RF was 295 IU/mL (normal range: 0–15 IU/mL). ANCA, anti-dsDNA antibody, anti-SS-A antibody, anti-SS-B antibody, and anti-cyclic citrullinated peptide antibody were all negative. C4 was 7 mg/dL (normal range, 13–35 mg/dL), and C3 was within the normal range. Blood cultures and T-SPOT.TB were negative. Urinalysis showed no proteinuria, hematuria, white blood cells, or casts. To confirm the diagnosis, we performed a CT-guided percutaneous needle biopsy of a paravertebral mass. Histological findings revealed dense lymphoplasmacytic infiltration with storiform fibrosis and hyperplastic ectopic germinal center formation (Fig. A and B). Immunohistochemical staining showed that 50% of plasma cells with IgG immunoreactivity (Fig. C) were positively immunolabeled with the IgG4 antibody (Fig. D). The ectopic germinal centers consisted of CD3+ T cells (Fig. E) and CD20+ B cells (Fig. F). We diagnosed IgG4-related FM/retroperitoneal fibrosis based on the 2011 comprehensive diagnostic criteria.[ She received 30 mg/d of PSL as induction therapy and 3 months later we performed a follow-up CT that revealed marked improvement of the paravertebral mass/retroperitoneal fibrosis (Fig. D–F). Serum IgG and IgG4 had decreased to 1310 and 290 mg/dL, respectively. The dose of PSL was tapered and there was no recurrence over 8 months of follow-up.
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pmc-6393102-1
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A 32-year-old man was admitted for a spontaneous oppressive left side chest pain with a left arm irradiation for 2 days. He had a history of HME diagnosed in the childhood, with multiple leg exostosis resections and a leg-length inequalities correction. No genetic testing was available. He was a tobacco and cannabis smoker (13-pack-years). At admission, clinical exam did not reveal any sign of acute respiratory failure but a slight decrease in breath sounds in the left lung. Blood pressure was 130/80 mmHg, cardiac rate: 62 per minute, Sa02: 98%. Standard blood analysis and ECG were normal. A chest X-ray identified a left pneumothorax extending on axillary line and 2 dense opacities, 1 is located near the left fifth rib and the other being located near the right sixth rib (Fig. A). A chest computed tomography (CT) was performed and confirmed the left side pneumothorax and multiple costal exostoses (Fig. B–D). One exostosis was developed from the anterior arch of the left fifth rib with an intra-thoracic involvement and had a contact with the pneumothorax. Furthermore, CT-scan revealed bilateral paraseptal emphysema with an apical predominance.
Given clinical and radiological presentations, a conservative management was first proposed, resulting in a progressive and spontaneous improvement. The patient was discharged from hospital after 2 days management. Chest X-ray performed 2 weeks later exhibited complete resolution of the pneumothorax. Pulmonary function tests identified: forced expiratory volume in the first second (FEV1) 93% of predicted value, FEV1/forced vital capacity (FVC) 92%, RV 179% pred. The Alpha-1-antitrypsin level was normal.
Several weeks after this event, a surgical management of rib exostoses was proposed in order to prevent any pneumothorax recurrence. Surgery was performed by left-sided video-assisted thoracoscopy (VATS) and revealed exostoses of the left-sided fourth and fifth ribs with tight pulmonary adherences. A partial resection of the left-sided fourth and fifth ribs exhibiting intrathoracic exostosis lesions as well as a resection of 2 small emphysematous bullae were performed (Fig. ). Due to double exostoses withdrawal, an early pulmonary hernia occurs and was taken care with a Vicryl plate to filling the anterior parietal defect.
Histological examination demonstrated emphysematous bullae and exostosis of the fourth and fifth ribs, with no sign of malignant transformation.
Written informed consent was obtained from the patient for publication of this case report.
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pmc-6393145-1
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A 50-year-old Korean man presented with a keloid scar on his anterior chest wall, which had developed 1 year prior following trauma and had gradually enlarged beyond the original wound's boundaries. He complained about pain and itching sensations in the keloid scar. The keloid scar measured about 5 cm and was located on the sternal area; a cystic lesion with a pin-point-sized skin opening was present at the center of the keloid scar (Fig. A). The cystic lesion was absent before the traumatic event, and dermoscopic examination revealed an EC with a central skin opening (Fig. B). The patient was asked to choose which among the 2 treatment options to undergo: total excision of the scar tissue including the cyst or laser therapy for the keloid and cystic lesion; the patient chose the latter method. First, laser therapy using a 595-nm pulsed dye laser (Vbeam; Candela Corporation, Wayland, MA) with a 7-mm spot size at a fluency of 12 J/cm2 and a 20-ms pulse width was performed to manage the keloid scar. Adjacent, nonoverlapping laser pulses were applied to the entire surface of the keloid scar. Epidermal cooling was achieved using a cryogen spray cooling device, which had a spurt duration of 30 ms with a delay of 30 ms. These procedures were performed 3 times with 3-week intervals. Second, laser therapy using a carbon dioxide laser (Spectra SP carbon dioxide laser, 20 Hz, 250 μs pulse width, 17 mJ; Lutronic, Korea) to create multiple punctures, resulting in a 2 to 4 mm hole, was performed to manage the EC. Gentle pressure and squeezing led to the exudation of the cyst's internal contents through the hole, and the remaining visible cystic walls were cauterized using the carbon dioxide laser. We applied Steri-Strip skin closures (3 M, Maplewood, MN) to the wound without surgical sutures. There were no postoperative complications, such as infection or wound dehiscence. The EC healed completely following the carbon dioxide laser therapy. We performed 5 further pulsed dye laser cycles on the whole keloid scar (Fig. C and D). After completing the laser therapy, Mepiform dressing (Mölnlycke Health Care, Oakville, Ontario, Canada), which is a self-adherent soft silicone dressing designed for scar management, was used by the patient for 5 months (Fig. E and F). There were no EC recurrences or keloid overgrowth during the 2-year follow-up period, and the patient was satisfied with the final outcome (Fig. G).
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pmc-6393145-2
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A 43-year-old woman presented with post-Bacillus Calmette–Guérin vaccination keloid scars on both shoulders. A protruding lesion had developed at the center of the keloid scar on her right shoulder 3 months prior. The lesion had increased in size, and she had squeezed out the lesion's contents several times. However, the lesion had become swollen again and was painful. When she visited our clinic, the lesion had already ruptured, and inflammation had spread to the surrounding keloid scar tissue. The keloid scar on the patient's right shoulder measured about 9 × 7 cm, and the ruptured lesion measured 2 × 1.5 cm (Fig. A). We excised all the keloid tissue including the ruptured lesion, and repaired the wound using subdermal 3-0 PDS (Ethicon, Inc., Somerville, NJ) and interrupted 5-0 Ethilone (Ethicon, Inc.) sutures, primarily (Fig. B–D). Histopathologically, a large laminated keratin-filled cyst was present in the dermis surrounded with a dense collagenous keloid scar (Fig. E). The cyst wall consisted of stratified squamous epithelium with a granular layer, which was consistent with an EC. The adjacent dermis contained characteristic broad, eosinophilic, and homogeneous keloidal collagen bundles (Fig. F). There were no postoperative complications, such as an infection or wound dehiscence. The stitches were removed 14 days postoperatively, and Steri-Strip skin closures were applied for 1 month to prevent wound dehiscence and scar widening. Subsequently, the patient used Mepiform and applied a personalized compression garment for 5 months (Fig. G and H). There were no EC recurrences or keloid overgrowth during the 1-year follow-up period, and the patient was satisfied with the final outcome.
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pmc-6393651-1
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The currently 8-year and 5-year old male index cases are two siblings of German maternal and Moroccan paternal descent who are compound heterozygous for the CFTR mutations p.Phe508del on the maternal allele and p.[Arg74Trp;p.Val201Met;p.Asp1270Asn] on the paternal allele. The elder boy suffered from recurrent episodes of obstructive bronchitis and had recurrent detection of Staphylococcus aureus and of Haemophilus influenzae in respiratory specimens. The younger boy is healthier. He experienced fewer episodes of airway infections. Throat swabs were repeatedly positive for H. influenzae, but never for S. aureus. Spirometry is normal for age in both siblings. Multiple-breath nitrogen washout tests (Poncin, Singer, Aubriot, & Lebecque, ) yielded slightly elevated lung clearance indices of 8.0 and 7.8 for the elder and younger boy, respectively.
The basic defect was investigated with the CFTR biomarkers sweat chloride concentration in Gibson–Cooke pilocarpine sweat tests and chloride secretory responses in intestinal current measurements (ICM; Figure ) (De Boeck et al., ) followed by immunoblot analysis of CFTR protein (Figure ) (van Barneveld et al., ).
Chloride levels in sweat tests were in the lower intermediate range between 40 and 45 mmol/L in both siblings (Table ). ICM of rectal biopsies taken from both siblings yielded normal chloride secretory responses to forskolin/IBMX (Table ). Since p.Phe508del CFTR responses are within the range of a few percent of wild-type (van Barneveld et al., ), the cAMP-linked chloride secretion can be attributed to the CFTR triple mutant. In contrast, the transient pulses of chloride secretion evoked in the biopsies by basolateral Ca2+-dependent K+ efflux induced by carbachol or histamine (Bronsveld et al., ) were donor-dependent either in the normal or in the CF range (Figure ). The carbachol- and the histamine-mediated responses of the biopsies of the younger sibling were in the normal range, but the responses of the specimens of the elder sibling were in the CF range below the lowermost value ever measured with the same protocol in non-CF probands (Table ). The profile of a normal response to forskolin/IBMX and low responses to carbachol and histamine seen in the elder sibling's biopsies is typical for individuals with very mild CF (Stanke et al., ) and can be attributed to the drug concentrations selected by the current “SOP” for ICM. Even minute amounts of residual CFTR activity will generate a response to forskolin/IBMX, but the response will saturate at about 20% of wild-type CFTR activity. Conversely, the chloride secretory responses to carbachol and histamine are approximately proportional to the CFTR activity of the biopsy. In conclusion, the elder sibling exhibited the phenotype of a very mild CF in the ICM, whereas the younger sibling showed a normal response typical for a healthy non-CF individual.
Next, we determined the CFTR protein levels in the biopsies (Figure ). The immunoblot detected fourfold lower amounts of complex glycosylated CFTR in immunoprecipitates of rectal biopsies collected from the elder sibling than in specimens taken from wild-type controls (Figure a). In contrast, the intensity of immunoreactive CFTR C- and B-bands was indistinguishable between samples from the younger sibling and non-CF controls (Figure b). Thus, the low and normal responses of the intestinal epithelium to carbachol and histamine observed in the ICM corresponded to low and normal levels of the mature CFTR glycoform, respectively.
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pmc-6393660-1
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The proband (1001-15), born to nonconsanguineous and currently healthy parents, is a 4-year-old male child with multiple phenotypic abnormalities and psychomotor delay. The family history was negative for genetic diseases with the exception of the maternal grandmother affected by bilateral keratoconus. Prenatal ultrasound at 20 weeks of gestation revealed ventriculomegaly and coarctation of the aorta; slight intrauterine growth restriction (IUGR) was documented at 32 weeks of gestation. Invasive prenatal investigation was not performed. He was born by spontaneous delivery at 38 weeks of gestation. His birth weight was 2,405 g (50th percentile), length 48 cm (97th percentile), and OFC 31.5 cm (<50th centile) (Villar et al., ). Apgar score was 6 at 1 min, 8 at 5 min, and 9 at 20 min. Ventilatory assistance was not needed. He was hospitalized in the neonatal pathology unit for 10 days because of hypotonia, difficulty in feeding, episodes of desaturation following vomit, and coarse face. In the first months, he showed scarce motor–postural organization without other specific neurological signs and general hypotonia. Independent walking was acquired at 22 months of age. At the age of 2.3 years, he showed bitemporal constriction, hypertelorism, large and prominent eyes with megalocornea (diameter 15 mm), right-sided monocular deficit, recurrent horizontal nystagmus, hypopigmented fundus with bilateral pale papillae, normal bulbar ultrasound and electrophysiological investigation (ERG and PEV), small nose, and full lips. Thinning of the corpus callosum was documented at ultrasound. Moreover, coarctation of the aorta, dorsal-lumbar hump in sitting position in the absence of vertebral malformations, bilateral flat feet, and bilateral plantar fibrolipomatous hamartoma were present. He had frequent nocturnal awakenings. Speech therapy was initiated because of psychomotor and language delay. During the last visit to the clinical genetics unit at 3 years of age, the patient was using corrective lenses for megalocorneal astigmatism; minimal dorsal kyphosis was still present. He was able to pronounce about 10 words and made onomatopoeic sounds, has a friendly attitude and was able to execute simple orders, indicated what he wanted, said no and yes with the head, and was able to eat alone even with the cutlery. Parents reported that the child avoided crowded environments.
Array CGH data from family trio showed a de novo 10 Mb duplication (Chr3:133466557–143862852) and a de novo 5 Mb deletion (Chr3:169599118–174713426) at the q arm of chromosome 3 of the proband (Figure a): 46, XY,arr [GRCh37]3q22.1q24 (133466557_143862852)x3dn, 3q26.2q26.31(169599118_174713426)x1dn. To better understand and confirm these findings, FISH was performed in trio metaphases by using probes targeting FOXL2 (3q22.3, red) and SLC7A14 (3q26.2, green). As a result, the proband showed a karyotype: 46,XY.ish dup(3)(q22.3)(FOXL2++),del3(q26.2)(SLC7A14-), while the mother, whose karyotype appeared normal, carried an inversion at the 3qter (Figure b): 46,XX.ish inv(3)(q22.3q26.2)(FOXL2+, SLC7A14+). To obtain a more complete view of the structural variations in the family, we decided to sequence the whole genome of the proband and the mother by using paired-end WGS.
After the alignment, we obtained an average coverage of 31x in the mother's DNA and 45x in the proband's one. The coverage plot analysis on whole chromosome 3 showed a balanced chromosome 3 in the mother DNA, whereas, as previously demonstrated by array CGH and FISH data, a 10 Mb duplication and a 5 Mb deletion were highlighted in proband's DNA (Figure , Supporting Information Figure ). According to LUMPY and MANTA analysis, the q arm of chromosome 3 of the mother was shattered by seven breakpoints producing eight fragments named as 3a, 3b, 3c, 3d, 3e, 3f, 3g, and 3h. In order to reconstruct the derivative chromosome 3, the orientation of paired reads on each breakpoint was identified (Supporting Information Figure a) and the interpretation confirmed on Sanger sequencing (Supporting Information Figure b): Both the inverted orientation of fragments 3b, 3e, and 3g and the changing in their order implied a “balanced chromothripsis” event at chromosome 3q of the mother (Table ). Additionally, fragment 3f was predicted and confirmed to be inserted into chromosome 8 where a 6.8 kb deletion (chr8:32716995–32723878) was highlighted by a decreased coverage of the region (Supporting Information Figure ). In contrast, in proband's genome, the same 6.8 kb chromosome 8 region was in balanced state (Supporting Information Figure ).
All breakpoint junctions, namely BPJ_3a(+)_3b(−), BPJ_3b(−)_3e(−), BPJ_3e(−)_3g(−), BPJ_3g(−)_3d(+), BPJ_3d(+)_3c(+), BPJ_3c(+)_3h(+), and the fusion junctions of fragment 3f insertion into chromosome 8, BPJ1_chr8_3f(+) and BPJ2_3f(+)_chr8, were confirmed and fully characterized by Sanger sequencing (Supporting Information Figure b). Out of the eight fusion junctions detected in the mother, the proband (1001–15) inherited the identical BPJ_3d(+)_3c(+) and BPJ_3c(+)_3h(+) fusion junctions, indicating maternal crossover occurrence between the normal and the derivative chromosome 3 (Figure a). Additionally, the exact breakpoints of the 3q proband's deletion (fragments 3e, 3f, and 3g, Chr3:169592489–174724061) and duplication (fragment 3c, Chr3:133464557–143880432) were defined (Figure b). The breakpoints’ signatures indicated NHEJ mechanisms with blunt fusions (five out of eight BPJs), microduplication (two out of eight), and microhomology (two out of eight; Supporting Information Figure b).
Screening of the grandmaternal parents for the SNPs detected in the mother-specific fusion junctions revealed the maternal origin of the chromothripsed chromosome 3 of the mother (1002-15; Supporting Information Figure ).
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pmc-6393660-2
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The proband is a 14-year-old boy born at 33 weeks of gestation after eventful pregnancy and delivery. He was the only child of unrelated parents, aged 42. His mother had a previous spontaneous abortion at the second month of pregnancy. His weight was 2,000 g, length 45 cm, and OCF 31 cm, all slightly above the 50th centile for preterm infants born at the same gestational age (Villar et al., ). Apgar score was 9 at 1 min and 9 at 5 min. He presented a patent ductus arteriosus and hypospadias that were later surgically corrected. Development milestones were delayed: He crawled at 12 months, walked autonomously at 18 months, and started babbling at 12 months, and his language was limited to few words at 18 months. Sphincter control was acquired at 5 years. He attended prescholar nursery, where he was followed by a support teacher and showed difficulties in social interactions. At age of 3.5 years, he was referred to a pediatric neurology service for assessment of global developmental and speech delay. Metabolic workup (urine organic acids, serum and leukocyte lysosomal enzymes, plasma, and urine amino acids) was normal. Audiological and audiometric examination, and auditory-evoked potentials resulted in the normal range. Due to impairment of motor coordination and speech difficulties, a rehabilitating psychomotor and logopedics therapy was started. At the age of 6.7 years, functional evaluation of the language and neurological observation were performed. A global immaturity was observed, and his emotions were badly controlled: He quickly moved from passivity to provoking behavior when he felt he could not accomplish a given task. Receptive and expressive language was impaired and difficult to understand: Communication was reduced with few words spoken and many mistakes in phoneme production. Social interactions were limited: He continuously searched for his parent attention, his listening was discontinuous, and his answer was often not adequate to the context; the overall results placed the child at the age of about 4 years. At age 12, WPPSI-IV (Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition) was administered to the child and placed him within the moderate–severe ID range, with the following index scores: Verbal Comprehension, 62; Perceptual Reasoning, 87; Working Memory, 52; Processing Speed, 69, with a full I.Q, 58. Standard scores of verbal tests were as follows: similarities, 6; vocabulary, 3; and comprehension, 2; nonverbal tests scores were as follows: picture concepts, 7; block design 10; and matrix reasoning, 7. A language questionnaire HBQ (The MacArthur Health and Behavior Questionnaire) placed the child at the age of about 2 years. A discrepancy between language and working competences was noted, and this was mainly referred to his deficit in the working memory area. His reading abilities were poor, corresponding to a first-grade pupil (6 years). Text comprehension and object manipulation/working abilities were adequate.
Conventional cytogenetics, later on extended to the parents, revealed a maternally inherited complex translocation between chromosomes 6, 7, and 15, including a 116 Mb pericentric inversion of chromosome 6 (Figure ). The proband's karyotype was defined as: 46,XY,t(6;7;15)(15qter->15q15::6q21->6qter;7pter->7q32::6p23->6pter;15pter->15q15::6p21.3->6p23::7q32->7qter)mat.
The mother's developmental milestones were almost in the normal range: She walked autonomously at 18 months, and first words were spoken at 11 months. She presents strabismus and a very irregular dentition. She had difficulties during her schooling, but neither attended a school for special needs nor had support teachers. She was not able to obtain a high school diploma. She is now working as a homecare provider and has good social integration. Cognitive ability assessments have never been performed.
The average coverage of WGS experiments was 31x in the mother DNA (1960-16) and 39x in proband's one (1959-16). In proband's DNA (1959-16), we detected a total of seven breakpoints: four on chromosome 6, involving those of the pericentric inversion, producing five fragments (6a, 6b, 6c, 6p, and 6q) (Figure a), two on chromosome 7 producing three fragments (7a, 7b, and 7c), and one on chromosome 15 producing two fragments (15a and 15b; Figure b, Table , Supporting Information Figure a). In the mother, in addition to the breakpoints transmitted to the proband, WGS analysis revealed a further breakpoint on chromosome 6 indicating a fusion junction of chromosomes 6 and 7 (6a-7b fusion junction, chr6:111343917::chr7:132591776; Table , Supporting Information Figure ). Notably, this 6a-7b breakpoint was absent in the proband's genome. Additionally, fragment 7b, of 4,297 kb (chr7:132591756–132596053), was deleted in the proband as suggested by decreased coverage of the region, while it was in balanced state in the mother (Supporting Information Figure ). Overall, these findings, more specifically the deletion of fragment 7b and the absence of 6a-7b junction in proband's genome, allowed to hypothesize that in the mother, this 7b fragment was translocated to the “normal” chromosome 6 (Figure b), suggesting a postzygotic origin of the complex rearrangement in the mother. In this model, in addition to the seven breakpoints as detected in the proband, the mother had two further breakpoints on the homologous chromosome 6 producing three fragments 6a′, 6x′, and 6b′ (apostrophe on the fragments was used to indicate the homolog pair of the chromosome fragment 6).
Polymerase chain reaction and Sanger sequencing were performed to verify previous data (Supporting Information Figure b). As a result, the breakpoint junctions of t(6;7;15), BPJ_15a(+)_6a(+), BPJ_6x(+)_7c(+), BPJ_7a(+)_6b(+), BPJ_6b(+)_6p(−), BPJ_15b(−)_6c(−), and BPJ_6(−)_6q(+) were confirmed both in proband (1959-16) and in mother (1960-16; Figure c), leading to final interpretation of the rearrangement different from the original one: 46,XY,t(6;7;15)(15qter->15q15.1::6q14.2->6p25.1::6q22.31->6qter;7pter->7q32.3::6q21->6q22.31::6p25.1->6pter;15pter->15q15.1::6q14.2->6q21::7q32.3->7qter). As concordant with the NGS data, breakpoint junction between 6a′ and 7b, BPJ_6a′(+)_7b(+), was present only in the mother supporting the reconstruction model of t(6;7;15). Sequence features at breakpoint junctions involved microhomology (four out of seven), small deletions up to 100 bp (four out of seven), and 6 bp microduplication (one out of seven; Table ; Supporting Information Figure b). In order to test whether the mother was mosaic for the breakpoints of t(6;7;15), we performed PCR analysis of all t(6;7;15) breakpoints on her saliva-derived DNA. As a result, six of the fusion junctions including the one between 6a′ and 7b, BPJ_6a′(+)_7b(+), were present also in the saliva, while unexpectedly the fusion junction between 7a and 6b, BPJ_7a(+)_6b(+), was absent (Supporting Information Figure ), suggesting that the complex translocation t(6;7;15) underwent small additional rearrangements in a tissue-specific way. As repeat elements upstream to the 6a′-7b breakpoint at chromosomes 6 impaired PCR cloning and SNP screening, we could not confirm the involvement of both chromosome 6 homologs. Absence of loss of heterozygosity on chromosomes 6, 7, and 15, as demonstrated by SNP-CGH array performed on proband, excluded uniparental disomy (data not shown). We screened maternal grandparents for the SNPs located at the t(6;7;15) fusion junctions, and we obtained a single informative SNP located at the inversion junction at chromosome 6, BPJ_6b(+)_6p(−), suggesting the grandpaternal origin of rearranged chromosome 6 (Supporting Information Figure ).
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pmc-6393669-1
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A 30 year old male presented at the Surgery OPD with chief complaint of discharging wound in the upper part of the abdomen for 1 month. The problem started 6 months back when he underwent an emergency exploratory laparotomy at another medical college for 3 days old abdominal pain. A small peptic perforation was detected and was repaired with an omental patch. On fourth post-operative day the patient developed burst abdomen. It was managed conservatively. Over a period of time the bowel got contained and the patient was put on oral nutrition. The patient was discharged was doing fine at home. However his abdominal wound was not healing. In the fourth month it was covered with the split thickness skin graft. The procedure and the post-operative period was uneventful till one month. However in the fifth month a serous discharge from the upper part of the grafted surface was noticed. It was coming from a small ulcer and was small in amount. Over a the period of time till he presented at our OPD it remained small in output. It was managed by applying gauge pieces over the wound which has to be changed once or sometimes two to three times a day.
The examination of the abdomen revealed a 12 cm × 5 cm elliptical patch of skin graft over the middle of the abdomen. There was a small depressed ulcer of around 1 cm × 1 cm in its upper part covered with pale granulation showing serous ooze. Apart from this ulcer there were few other spots showing exuberant pale granulation (). A scar was seen at previous drain site. Palpation of the abdomen showed deficient abdominal wall below the skin graft.
The blood reports were all but normal. Haemoglobin was 11.4 gm/dl with total WBC count as 11.6 × 103/mm3. The total serum protein was 7.9 gm/dl with serum albumin as 3.5 gm/dl. A left subphrenic collection of size 8 cm × 7 cm was seen on the ultrasound. With a suspicion of some missed pathology at previous surgery site an upper GI endoscopy was performed. A small benign looking ulcer was seen at the pylorus of the stomach.
With a strong suspicion of gastrocutaneous fistula, a CT fistulogram was performed. An enterocutaneous fistula between the pylorus of the stomach and the anterior abdominal wall was seen. A long side branch of the fistula tract was seen communicating to a moderate sized left subphrenic collection ().
With confirmed diagnosis of complex gastrocutaneous fistula a repeat surgery was planned. The abdomen was entered after incising the previous scar on left lateral side and extending the incision downwards and upwards. Dense interbowel adhesions were encountered. Meticulous adhesiolysis and dissection was performed. The abscess cavity was drained and the perforation on the pylorus of the stomach was identified. It was around 1 cm × 1 cm size. Repeat omental patch repair was performed. In view of difficult dissection, feeding jejunostomy and retrograde tube duodenostomy were also made.
An uneventful recovery happened. He attended follow up clinic till 4 months following the discharge. There was an incisional hernia but otherwise he was doing fine. After this he was lost to follow up.
Timeline
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pmc-6393690-1
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A 45-year-old male with no known history of cancer presented to our institution with a lump in the left breast that had been gradually increasing for 14 months.
A physical exam revealed a large, fixed 10 cm mass occupied the entire right breast (-A). The mass itself was adherent to the chest but it did not invade the skin. There was no ulceration, nipple discharge, or retraction. There were no palpable lymph nodes. Clinical presentation had supposed initially as a sarcoma of the breast.
Preoperative unenhanced CT imaging showed well-defined round heterogeneous soft tissue density with hypo dense areas (-B), necrosis and peripheral and central calcifications measuring 07 cm × 10 cm × 11 cm. It was localized in the 4; 5 anterior thoracic rib. The tumor involves the intercostal muscles but respect the lung. CT scan detected no metastatic tumor.
A core-needle biopsy was taken, which was suggestive of chondrosarcoma grade II.
Surgery was initiated for wide excision. Intra-operatively, it was found to be arising from the 4; 5 th rib and pushing the lung without invading it. The whole tumor was excised en-bloc along with 4 th, 5th and 6th ribs with a surgical margin of more than 2.0 cm (-A, B). This resection left a defect measuring 23 × 15 cm on the anterior chest wall. Reconstruction of the defect was undertaken with polypropylene plate and ipsilateral pedicle latissimus dorsi muscle flap was placed on the alloplastic mesh (-D). Intercostal drain inserted. The patient was extubated one days after surgery and discharged in 10 days without complication.
In final histopathology report, grossly the tumor has blue-grey color and was attached to bone on one margin and covered by the breast in on one surface. The mass measured 18 cm × 14 cm×13 cm.
Histological section showed mesenchymal proliferation organized in lobulated architecture with abundant cartilaginous matrix and myxoide areas separated by fibrous bands and bony trabeculae bands. Chondrocytes contain enlarged, hyperchromatic nuclei showing high atypia. Mitosis are rare. The margins are free of tumor cells (-D).
The patient had an uneventful postoperative course and was discharged on the 10th postoperative day. No adjuvant treatment was administrated. The patient has now been followed up for 8 months after the excision with no evidence of tumor recurrence.
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pmc-6393863-1
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A 36-year-old male patient with a 6-year history of chronic kidney disease of unknown etiology was brought to the emergency department due to neurological impairment that started during the previous hour characterized by altered mental status while he was walking down the street. On examination he was stuporous, with poor response to external stimuli. The patient was admitted to the hospital and vital signs and capillary glucose were determined. Glucose levels were 20 mg/dl and increased to 42 mg/dl after a 50 ml infusion of 50% dextrose. During his stay his mental status recovered after glucose levels were returned to normal parameters, requiring high doses of intravenous glucose. After his stabilization he was transferred to the internal medicine department. We confirmed that the patient was not taking medications that would cause hypoglycemia. On physical examination he was somnolent and pale, with slight oedema in both legs. A new episode of symptomatic hypoglycemia was observed while he was receiving an infusion of 20% dextrose. The infusion rate at that moment was 10.416 ml/hr. The infusion was not being weaned off or was an acute disruption. It caught our attention that although the patient was on a 20% dextrose infusion, he continued with hypoglycemia. Blood samples were taken and the results were abnormal ().
Although hypoglycemia could be explained by chronic kidney disease, the diagnosis of insulinoma was considered, so a computed axial tomography with double contrast was taken but unfortunately there were no abnormal findings. During the patient's hospital stay he received several treatments that failed to achieve proper glucose control. We used ascending doses of diazoxide up to 600 mg/day with a poor response. In order to reduce episodes of hypoglycemia, we started with low doses of octreotide and found a good response that created tolerance quickly, so we decided to increase the dose by 0.1 mcg/kg/h always observing the same phenomenon. We decided to suspend this treatment when we reached 0.4. mcg/kg/h. Finally, we decided to maintain a continuous infusion of 50% dextrose with which we achieved serum glucose levels between 120 and 160 mg/dl. Magnetic resonance imaging and an endoscopic ultrasonography were performed but no conclusive data on any structural pancreatic disorder were obtained. In order to locate the tumor, we performed selective intra-arterial pancreatic stimulation with hepatic venous sampling at 0, 20, 40, and 60 seconds. High insulin levels were obtained after a selective injection of 0.025mEq/Kg calcium gluconate in the proximal splenic and gastroduodenal arteries () (). With these results, the patient was scheduled for surgery. During the procedure, bimanual palpation of the pancreas was performed, as well as a pancreatic ultrasound in which no tumor could be identified. The body and tail of the pancreas were resected. For two days the patient had an adequate glycemic control but after a couple of days, he presented with hypoglycemia again. The macroscopic pathology report did not show any tumor compatible with insulinoma; however, on microscopic examination pancreatic islets with elongated cells and clear cytoplasm compatible with nesidioblastosis were seen (). Unfortunately, during his stay at the intensive care unit, the patient developed late-onset hospital-acquired pneumonia and, in spite of treatment, he developed sepsis followed by septic shock which ultimately caused his death.
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pmc-6393866-1
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A 36-year-old woman was referred to the department of endocrinology for further examination of hypercalcemia, which was discovered during routine blood tests after gastric bypass operation 1 year earlier. There was no history of kidney stones, fractures, or osteoporosis that may be a result of hypercalcemia, and she had no known hyperthyroidism, Addison's disease, malignancy, sarcoidosis, or any other granulomatous disease that could explain the hypercalcemia. She had lost contact with her mother and sister, her only living relatives. Thus, a family history of hypercalcemia could not be investigated.
The patient inconsistently took calcium and vitamin D3 supplements in addition to iron, cobalamine, and multivitamins after the gastric bypass operation. She did not take thiazide diuretic or any other medications. She had symptoms of depression, anxiety, and tiredness and was later prescribed antidepressant medication. She also had recurrent episodes of dizziness, tremor, sweating, and fatigue, which resolved with the ingestion of carbohydrate and was related to hypoglycemia. Reactive hypoglycemia is a known late complication of gastric bypass operation induced by inappropriate hyperinsulinemia after the intake of rapidly absorbed carbohydrates []. The reactive hypoglycemia responded to dietitian instructions.
Repeated blood tests showed Ca-ion between 1.42 and 1.47 mmol/l (ref: 1.18 – 1.32 mmol/l), PTH between 6.3 and 8.9 pmol/l (ref: 1.7 – 7.1 pmol/l), and 25-hydroxy vitamin D between 43 and 58 nmol/l (ref: > 50 pmol/l). Alkaline phosphatase and thyroid function were normal. Dual-energy X-ray absorptiometry (DXA) showed T= -0.6 and T= -0.2 at the lumbar spine and total hip, respectively ().
Based on the mild hypercalcemia and the high normal to slightly elevated PTH, the patient was suspected of having primary PHPT. Before referral to a surgeon, FHH, the rare differential diagnosis to PHPT, had to be excluded. Genetic testing for mutations in the CaSR-gene showed a heterozygous mutation in nucleotide 437, changing the amino acid in position 146 from Glycine (G) to Aspartate (D) (c.[437G>A];[=], p.[(G146D)];[=]), reference sequence NM_000388.3 OMIM 601199), here called G146D. The found mutation was not formerly associated with FHH. However, urine calcium:creatinine clearance ratio was very low, 0.0029 and 0.0017 on two occasions, which verified the diagnosis of FHH, at the same time excluding the more common PHPT.
The CaSR is a member of the subfamily C of G-protein-coupled receptors which have seven transmembrane domains and function as disulfide-linked homodimers []. Its gene is located on chromosome 3q13.3-21.1 [] and includes seven exons where exon 2-7 are protein coding []. The mutation G146D is located in exon three, in the coding region of the receptor's extracellular Venus flytrap domain, more specifically as a part of LB1, a domain important for the ligand binding of calcium ions (Ca2+) and the amino acid L-tryptophan (L-Trp) that functions as an allosteric activator, enhancing the sensitivity of the receptor towards Ca2+ []. The binding of Ca2+ at this position seems to be important for maintaining the structural integrity of the receptor whereas other binding positions for Ca2+ are of more importance for receptor activity. Mutations in amino acids positioned as number 145 and 147, flanking number 146 on each side, have both been shown to eliminate the Ca2+ induced receptor activity. Based on this and the fact that the amino acid in position 146 is a part of the L-Trp binding cleft, it is likely that a mutation in position 146 reduces the receptor activity. Indeed, predictions from public in silico evaluation tools (Mutation Taster, PolyPhen, Provean) that were used to assist in the interpretation of the DNA-variant G146D all predicted a homozygous mutation G146D to be disease causing when factors like the location of the mutation regarding change of splice site, active site, or amino acid, as well as the nucleotide conservation between species, were taken into consideration. This knowledge about the CaSR-structure and consequence of mutations in neighboring amino acid positions was however not available at the time the patient was diagnosed.
Six years later, the patient's two daughters, 12 and 17 years old, were tested for the mutation. The youngest daughter did not have any mutation in the CaSR-gene, but she had a low level of D-vitamin associated with secondary hyperparathyroidism, low Ca-ion and elevated alkaline phosphatase. The eldest daughter was found to be carrying the same mutation in the CaSR-gene as her mother, associated with hypercalcemia and inappropriately high PTH. She, too, had a low level of D-vitamin. Both daughters had normal thyroid and liver function tests. The patient at this point had an unchanged mild hypercalcemia, but additionally she had developed elevated alkaline phosphatase, a further increased PTH-level and a decreased DXA T-score (lumbar spine) indicating FHH accompanied by calcium deficiency and bone resorption ().
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pmc-6393871-1
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A 27-year-old female patient with a known case of triple-negative breast cancer admitted to the emergency room complaining of documented fever 40°C at home which was relieved with an antipyretic. She was status post 4 cycles of neoadjuvant dose-dense AC regimen which consists of doxorubicin 60 mg/m2 and cyclophosphamide 600 mg/m2 administered every 14 days. She was prescribed primary prophylaxis filgrastim after all cycles. Physical examination was unremarkable apart from her fever. The patient was admitted to the hospital having febrile neutropenia with no focus of infection and started on empiric antibiotics and filgrastim. She had a low white blood cell (WBC) count with an absolute neutrophil count (ANC) of 1100 cells/microlitre on day 11 after cycle 4 despite being on appropriate filgrastim dose at 300 μg per day for 9 days. On the second day of her admission, she recovered from neutropenia but continued to have persistent high-grade fever for almost two weeks despite escalation of the antibiotics and addition of an antifungal agent. She underwent series of investigations to identify the cause of her unexplained fever. She had extensive blood and urine cultures after each spike of fever, which all came back negative. Computed tomography (CT) scan ruled out infectious focus and showed hepatosplenomegaly with multiple splenic hypodensities and minimal perisplenic fluid which did not appear in the baseline scan (Figures and ). Infectious disease team advised for a splenic biopsy which showed splenic infarction only with no evidence of bacterial, fungal, viral, or malignant involvement (). She also underwent an echocardiogram study, sinoscopy, and series of rheumatologic investigations that were normal. General surgery team was consulted and did not recommend any surgical intervention since the follow-up CT scan turned out negative for splenic abscesses with interval improvement in the previous splenic wedge-shaped hypodensities (). Eventually, the patient was discharged on oral antibiotics with infectious disease and oncology clinic follow-up after being afebrile and asymptomatic for more than 72 hours.
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pmc-6393887-1
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The patient is a 48-year-old male who presented with gross hematuria in February 2017. Computed tomography (CT) of the chest, abdomen, and pelvis (CAP) showed bilateral renal masses, numerous bilateral pulmonary nodules, and mediastinal and right hilar lymphadenopathy. Pathology from a transbronchial lymph node biopsy (station 11R) revealed metastatic renal cell carcinoma. He was started on sunitinib 50 mg daily for 14 days every 21 days cycle and experienced a partial response (PR) until April 2018 when he developed worsening flank pain. CT CAP showed progression of disease (PD) with an enlarging right renal mass and right hilar lymphadenopathy. He was started on nivolumab 3 mg/kg every 14 days. After 8 cycles of nivolumab, patient developed worsening headache and blurry vision of the left eye, which prompted a magnetic resonance imaging (MRI) of the brain that showed a 2.5 cm enhancing, right parietal mass associated with hemorrhage and edema as well as punctuate areas of enhancement in the left frontal lobe and left cerebellar peduncle. Of note, a baseline MRI brain obtained after his initial diagnosis was negative for metastatic disease. Repeat CT CAP also showed PD with an enlarging left renal mass and worsening mediastinal lymphadenopathy. Patient was started on third-line cabozantinib 60 mg daily and received a course of dexamethasone 4 mg twice daily with referral to radiation oncology for treatment of his brain metastases. Three weeks after starting cabozantinib, a repeat MRI brain was obtained for radiation planning and showed complete resolution of the right parietal mass with now encephalomalacia of the area (). Patient also reported improvement of his headache and blurry vision. Due to resolution of the right parietal mass, radiation therapy was no longer deemed necessary and the patient remains on cabozantinib 60 mg daily. A CT CAP, obtained 8 weeks after initiation of cabozantinib therapy, showed partial response with reduction in size of mediastinal lymphadenopathy and bilateral renal masses ().
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pmc-6393888-1
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A 76-year-old female patient was admitted to our emergency department early in the morning with suspected acute coronary syndrome. The patient had suffered from a major stroke causing Broca's aphasia three months prior to this admission and was referred to us from a nearby neurorehabilitation clinic. Initial ECG showed no signs of acute ischemia, but troponin I levels were about 1000-fold elevated. History taking was complicated by patient's aphasia, but she did not appear to be in acute pain at the time of admission.
With a history of heart failure and an implanted single-chamber ICD, the patient was brought to the catheter lab to undergo coronary angiogram, where no culprit lesion could be detected ().
In a phone consultation with the rehab clinic's doctor in charge, he described how the patient had multiple episodes of acute chest and back pain with “electrical twitches” for the course of several hours during the past night. Pain medication was administered and the pain interpreted as musculoskeletal but no other diagnostic or therapeutic steps were taken. Eventually, in the morning, a troponin test was done and found positive, so the patient was referred.
Subsequently, we performed an ICD interrogation, which revealed an EOS (end of service) status and multiple inappropriate ICD therapies in the time between 00:07 AM and 03:46 AM until the battery of the Biotronik ICD was depleted and the device eventually stopped antitachycardia therapy. In summary, the patient suffered 105 consecutive inappropriate ICD shocks within 219 minutes (), to our knowledge, the highest shock incidence in such a short period of time. The shocks were caused by cluster missensing on her right ventricular lead (), presumably resulting from an insulation defect near the header. Further episodes of oversensing due to clusters could be seen over the preceding five months, occasionally followed by antitachycardia pacing but no shock therapy.
The ICD was implanted in 2008 and exchanged for EOL (end of life) in 2015. The last ambulatory interrogation was in September 2016, just before the first episodes of cluster missensing occurred. The next appointment was scheduled for March 2017 but postponed due to the prolonged hospital stay after apoplexy. The technical analysis of the explanted ICD did not show any technical abnormalities; the chest X-ray revealed no sign of lead fracture.
After discussing the case with patient's family, the defective lead was disconnected, and at the request of the patient and her family, a new ICD and lead were implanted and the patient enrolled in our remote monitoring program.
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pmc-6393890-1
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A 10-month-old, female spayed Labrador retriever mix was referred to Metropolitan Veterinary Hospital Surgery Service due to a history of exercise intolerance and wheezing that was first recorded after being taken in by a local humane society. Radiographs from the referring veterinarian showed significant dilation of the cranial esophagus containing what appeared to be food as well as evidence of aspiration pneumonia (). A contrast esophagram was performed by the same veterinarian subsequently and this examination was suggestive of a vascular ring anomaly. Despite these findings, the dog did not have a history of any episodes of vomiting or regurgitation during the 4 weeks of observation at the humane society. The dog was receiving amoxicillin-clavulanic acid 250 mg PO q12h (Clavamox; Zoetis, Kalamazoo, MI, USA) and ciprofloxacin 125 mg PO q12h (Cipro; Bayer Inc., Mississauga, Ontario, Canada) when initially evaluated at Metropolitan Veterinary Hospital.
Initial physical examination revealed no signs of dyspnea; however lower respiratory stridor, suggestive of stricture, was auscultated during panting. The dog was bright and alert, normothermic, and had no evidence of other congenital anomalies. The remainder of the physical examination was unremarkable. Likely differential diagnoses for the cranial esophageal dilation included vascular ring anomaly, or less likely esophageal stricture, foreign body, or neoplasia at the level of the heart base.
Because of the atypical history mostly related to respiratory signs and the older age of the patient, advanced imaging was recommended for surgical planning prior to the procedure. Computed tomography (CT) evaluation (Picker PQS Third Generation CT Scanner; Coral Springs, FL, USA) of the thorax identified a segmental megaesophagus extending throughout the cervical and cranial thoracic region with termination of dilation at the level of the heart base (). At this level, the aortic arch had a bifid course with a large left-sided normal branch and a smaller right-sided segment (approximately one half the size as the left arch) coursing from the level of the cranial aspect of the aortic arch and anastomosing with the proximal aspect of the descending aorta. The smaller right-sided branch encircled the trachea causing severe mediolateral luminal narrowing of the trachea at the level of the cranial most aspect of the aortic arch and was also encircling the esophagus at the level of the heart base. The esophagus was also compressed and bounded dorsolaterally on the left by the normal left-sided aortic arch, laterally on the right by the trachea and ventrally by the main pulmonary artery. The esophagus caudal to the vascular anomaly was minimally distended. The left subclavian artery arose from the normal left aortic arch and there was a lack of a normal brachiocephalic trunk. The right subclavian artery arose from the aberrant right aortic arch and there was a very short bi-carotid trunk that arose from the confluence of the aortic arch cranially. The pulmonary parenchyma was normal with no evidence of aspiration pneumonia or increased attenuation to indicate fibrosis from a previous aspiration. The remaining intrathoracic structures and the captured intra-abdominal structures were normal.
Diagnosis consisted of a double aortic arch (smaller right-sided aberrant branch and normal left-sided aortic arch) encircling both the esophagus and trachea resulting in compression of both of these structures at the level of the heart base with subsequent development of a segmental megaesophagus. Concurrent vascular anomalies resulting in atypical origins of the right subclavian and carotid arteries were also present.
Four weeks after performing the CT scan, the patient was admitted to the hospital for surgical correction of her double aortic arch. She was placed under general anesthesia for surgery with a standard protocol. She was premedicated with hydromorphone (Akorn, Inc., Lake Forest, IL, USA) 0.1 mg/kg body weight (BW), IM, and induced with diazepam (Hospira, Inc., Lake Forest, IL, USA) 0.25 mg/kg body weight (BW), IV, and propofol (PropoFlo28; Zoetis, Kalamazoo, MI, USA) 4 mg/kg body weight (BW), IV. General anesthesia was maintained with isoflurane (IsoSol; VEDCO, Inc., St. Joseph, MO, USA) and mechanical ventilation (Hallowell EMC Veterinary Anesthesia Ventilator Model 2002IEPro; Pittsfield, MA, USA) was provided throughout the procedure. Antibiotic therapy (Cefazolin; West-Ward Pharmaceutical Corp, Eatontown, NJ, USA), 22 mg/kg body weight (BW), IV, was administered every 90 min.
A routine right 4th intercostal lateral thoracotomy was performed. Upon completion of thoracic exploration, blunt dissection into the mediastinum was performed. Two nylon stay sutures (Ethilon; Ethicon, Inc., Somerville, NJ, USA) were placed for retraction of the mediastinum. No gross abnormalities were identified in the mediastinum other than the cranial megaesophagus and a 6 mm right aortic arch (). Blunt dissection to isolate the aberrant vessel was performed. Temporary occlusion via vascular clamps for 10 minutes showed no change in heart rate or blood pressure. Ligation of the aortic arch was initially performed with 2-0 silk (Sofsilk; Covidien LLC., Mansfield, MA, USA) ligatures cranially and caudally. The vessel was then transected and each end was oversewn with 3-0 Prolene (Ethicon, Inc., Somerville, NJ, USA). Further dissection deep to the arch to the level of the esophagus was performed to ensure no obvious fibrous bands were causing further constriction (). Orogastric intubation was performed and confirmed an appropriate diameter of the esophagus. Digital palpation of the trachea showed that constriction was significantly relieved. Routine thoracostomy tube placement was performed (Mila International, Inc., Florence, KY, USA). Routine thoracotomy closure and thoracostomy tube fixation was performed. Air was evacuated from the pleural cavity via the thoracostomy tube, restoring subatmospheric pressure.
The patient received an intercostal nerve block using bupivacaine liposome injectable solution (Nocita; Aratana Therapeutics, Inc., Leawood, KS, USA) intraoperatively and was maintained on continuous rate infusion (CRI) of fentanyl (Hospira, Inc., Lake Forest, IL, USA), initially. Upon transfer to the surgical theater, a technical error led to the patient receiving a substantially higher dose of fentanyl (64 mcg/kg bolus over 15 minutes) than planned (4 mcg/kg/hour). The infusion was discontinued for the remainder of the anesthesia. The patient developed sinus bradycardia following the administration of fentanyl and was treated with Atropine 0.02 mg/kg, IV (Med-Pharmex, Inc., Pomona, CA, USA) to which she responded adequately. Recovery from anesthesia was uneventful. Isoflurane was discontinued and the patient was extubated 10 minutes later. The patient was maintained on the same fluid supplementations until being transferred to the intensive care unit (ICU). The postoperative analgesic protocol also included a postoperative carprofen injection 4.4 mg/kg subcutaneously (Rimadyl; Zoetis, Kalamazoo, MI, USA) and fentanyl transdermal patch (Alvogen, Inc., Pine Brook, NJ, USA) 50 mcg/hour was placed on the dorsal cervical area.
On admission to the ICU, the patient was calm and comfortable and vitals were within normal range. Fentanyl administration at a dose of 4 mcg/kg/hour was reinstated 3 hours following extubation due to observed signs of discomfort on incisional palpation. From anesthetic recovery to discharge, the patient's clinical condition progressively improved. Parenteral medications were transitioned from CRI (Fentanyl 4 μg/kg BW per hour CRI) to transdermal (Fentanyl patch) and oral nonsteroidal anti-inflammatory medication (Rimadyl; Zoetis, Kalamazoo, MI, USA), 75 mg PO q12h. The patient's thoracostomy tube air and fluid production decreased progressively during hospitalization and the tube was removed 12 hours postoperatively. The dog's first meal was offered 16 hours postoperatively as meatballs of CM (Hill's Pet Nutrition, Inc., Topeka, KS, USA) fed with the patient's head raised. No complications occurred during each subsequent feeding until discharge.
The dog was discharged one day postoperatively with instruction for strict exercise restriction for 3 weeks, oral Carprofen (Rimadyl), and transdermal fentanyl patch. Her caregivers at Lake Humane Society were instructed to feed small frequent meals until reevaluation.
A recheck was performed at Metropolitan Veterinary Hospital 3.5 weeks postoperatively. Her foster reported that she had resolution of her clinical signs starting one day after surgery. She was acting like a normal puppy, with great energy with no evidence of wheezing. After discharge postoperatively she was being fed one cup of food 3 times daily for 2 weeks. She was reported to have 2 episodes of regurgitation while on this feeding regimen. This resolved after switching her to 1.5 cups of solid dry dog food twice daily. At the time of recheck, on physical exam she was eupneic and no wheezing was auscultated. Three-view thoracic radiographs were performed which showed widening of the trachea cranial to the heart base, resolution of previous ventral tracheal deviation, and static cranial esophageal dilation. She had continued to do well with twice daily feeding from a bowl on the floor. No elevated feeding had been required.
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pmc-6393896-1
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A 27-year-old nullipara presented to her local hospital at 33 weeks' gestation with decreased fetal movement, uterine contractions, and possible leakage of fluid from the vagina. Testing confirmed rupture of membranes; therefore, the patient was started on antibiotics to increase latency and was given betamethasone to hasten fetal lung maturity. An ultrasound at the community hospital showed polyhydramnios and a fetal double bubble sign consistent with duodenal atresia. The mother was transferred to Penn State Milton S Hershey Medical Center for anticipation of preterm delivery in a fetus that would require postnatal surgery.
After transfer, fetal monitoring showed normal fetal heart rate variability with accelerations and occasional decelerations related to contractions. An ultrasound confirmed the double bubble sign and polyhydramnios. Blood was observed in real-time swirling into the amniotic fluid from the umbilical cord (). The patient was taken to the operating room and an emergent cesarean section was performed. The amniotic fluid was grossly bloody. A viable male infant weighing 2295 grams was delivered with Apgar scores of 7 and 8 at one and five minutes, respectively.
The umbilical cord overall length was 29.5 cm and there were 13, 0.5- 1 cm exposed segments of the umbilical arteries spiraling along the length of the cord (). A discrete area from which the hemorrhage emanated was not identified. The placental disk was of normal weight and appeared grossly normal. Histopathologic examination of the cord showed absence of Wharton's jelly covering the umbilical artery, extreme attenuation of the media in the portion of the vessel exposed to the amniotic fluid, and degeneration of the overlying amnion (Figures and ).
The infant had no stigmata of Down syndrome. He appeared pale at birth and an initial hematocrit was 29.4% that was treated by a blood transfusion upon admission to the neonatal intensive care unit. Postnatally the abdominal X-ray revealed air in the stomach and first portion of the duodenum with the remainder of the abdomen appearing gasless, consistent with duodenal atresia. A nasogastric tube was placed and 37 ml of bloody secretions were suctioned. The infant underwent laparotomy on the second day of life where an atresia was noted in the third portion of the duodenum and duodenojejunostomy was performed. He did well postoperatively and was discharged on day 30 of life.
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pmc-6393900-1
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A 59-year-old female presented with symptoms suggestive of gastric outlet obstruction with a background of long-standing dyspepsia. She presented with nonbilious recurrent vomiting of undigested food particles after meals with worsening early satiety for a duration of 5 years. Although she had loss of weight, her appetite was good. She did not have any other medical comorbidities. There was no history suggestive of corrosive injury, gastrointestinal bleeding, obstructive jaundice, or intestinal obstruction. Her body mass index (BMI) was 18.05 kg·m−2; however, she did not have any clinical evidence of micronutrient deficiency. Her general and abdominal examination was unremarkable. Her basic biochemistry was normal with a haemoglobin of 11.5 g/dL. Her serum sodium was 132 mmol/L, and potassium was 3.8 mmol/L. Her liver functions were normal with an albumin level of 35 g/L.
An upper gastrointestinal endoscopy showed a diverticulum with a wide mouth at the pylorus filled with undigested food despite adequate fasting prior to the procedure. The gastric outlet was stenosed, and the scope could not be negotiated beyond it (). Multiple biopsies taken from the site were negative for a malignancy and the Helicobacter pylori status was negative. Furthermore, there were no visible tumours. Contrast-enhanced computed tomography (CECT) scan showed a distended stomach. There was a large (6 cm × 7 cm × 7 cm), thin-walled outpouching with a wide neck arising from the region of the pylorus filled with gastric contents. The findings were consistent with a false diverticulum arising from the pylorus (). The pyloric canal appeared narrowed with no obvious wall thickening or related mass lesions. Passage of oral water contrast medium into the duodenum was noted. The mucosa of the stomach showed normal enhancement following administration of contrast medium. Thus, the CECT and endoscopic findings were in favour of a false diverticulum arising from the pylorus with associated significant stenosis of the pyloric canal.
She underwent an open anterior gastrojejunostomy and jejunojejunostomy. The stomach appeared hypertrophied without any externally visible diverticulum. Pyloroplasty was not possible as there was a large diverticulum at the site. The diverticulum was adherent to the surrounding tissue and resection was difficult. Therefore, it was decided to do a bypass which was the safest procedure for this patient. Her postoperative recovery was unremarkable. Her symptoms were relieved after surgery.
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pmc-6393903-1
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A 10-month-old female presented with an oedema in the left zygomatic and retroauricular region without other inflammation sites. She was afebrile and in good clinical condition with otoscopic findings, characteristic of acute otitis media and concomitant oedema in the external auditory meatus of the left ear. Due to otorrhoea on the left side 4 days ago, the child started receiving antibiotic treatment per os with amoxicillin and clavulanic acid 457 mg/5 ml (90 mg/kg) every 12 h. Family history showed that the mother died 7 months ago at the age of 34 due to melanoma recurrence during pregnancy. She was diagnosed with melanoma at the age of 25, for which she was treated with chemotherapy with complete regression of the disease. During her pregnancy, she presented with a recurrence of melanoma with metastases in the liver, bones, lungs, and brain. She died 3 months after delivery. The child was initially treated as an acute mastoiditis on the left side according to our clinic's protocol, and a double intravenous antibiotic scheme of cefotaxime + clindamycin and dexamethasone was administered. Subsequently, a myringotomy was performed on both sides under general anaesthesia, and ventilation tubes were placed. A purulent fluid was drained from the left side, which was sent for culture. The child showed an immediate improvement in her clinical picture, showing reduced otorrhoea on the left and reduced oedema in the left zygomatic and retroauricular region after the following 24 hours. After the antibiogram results (Pseudomonas aeruginosa), the treatment was changed to ceftazidime and amikacin. Due to recurrence of the retroauricular oedema on the left after 7 days, a CT of the temporal bone with contrast was performed. An invasive lesion of the mastoid cavity on the left with widespread corrosion of the trabeculae of the bone was found, expanding intracranially (towards the cranial bones and the underlying meninx) (). A drilling of the mastoid on the left followed. During the retroauricular incision, an infiltration was observed, with multiple friable fragments of dark-coloured subcutaneous tissue of the underlying corroded bone cortex and of the whole mastoid cavity, which had been submitted to “automated trephination.” Characteristically, the mastoid cavity was infused with a material similar to cuttlefish ink in colour (). Moreover, corrosion was observed on the posterior wall of the external auditory meatus, on the apex of the mastoid, and on the bony wall of the meninx, which was uncovered especially in the area of the meninx-sigmoid corner. Furthermore, the wall of the sigmoid sinus was corroded. No thrombosis was observed of the sigmoid sinus. Neuromonitoring of the facial nerve was performed, and an urgent neurosurgical assessment was requested. Debridement and removal of the corroded bone fragments was performed.
Multiple fragments of dark-coloured tissue were sent for an immediate histological examination. The history (individual and family), the clinical picture, the radiological and surgical findings, and the immunophenotype showed an intermediate level malignity of a melanocytic tumour in the mastoid, with areas of a high level of malignity (). Oncologists were consulted, and we came into communication with the international “rare tumours” protocol in order to choose the right therapy. Using the real-time PCR-HRM analysis technique, a mutation was detected in exon 15 of the ΒRAF (p.V600E) gene. A full radiological examination was followed by an MRI of the brain, an MRI of the visceral cranium, and an MRI of the vertebral column; a thorax-CT; a cervical/parotid/axillary/groin U/S; and an upper-lower abdomen U/S.
The visceral cranium MRI showed an invasive lesion of a pathological magnetic signal with mild enhancement by contrast administration and areas of necrosis, occupying all cavities of the left temporal bone (). Whether this lesion corresponds to a residual disease or postoperative lesions remains a question.
The rest of the radiological examination was normal. The child remained in good clinical condition without treatment.
One month later, due to the appearance of asymmetry on the cheek and the right preauricular region, second visceral cranium MRI was performed, which was negative for activation of the disease. Compared to the previous ΜRI, we distinguished a clear reduction in the area of the pathological signal and of the intake of the paramagnetic substance in and around the left temporal bone (). Complete regression of the metastatic bone lesion has been confirmed by follow-up; now, the child is 4 years old, alive, and without evidence of disease.
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pmc-6393913-1
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A 74-year-old woman who suffered from pancreatic adenocarcinoma of the corpus, including peritoneal and bone metastases, had received palliative chemotherapy with gemcitabine for eight months; however, she switched to concomitant chemoradiation due to painful symptomatic primary tumor progression. Treatment consisted of percutaneous modulated arc radiotherapy with single doses of 3.0 Gy five times a week up to a total dose of 36.0 Gy. The planning target volume was 102 ccm. Radiation was combined with fluorouracil (225 mg/m2/d) as continuous infusion.
Four weeks after the completion of chemoradiation, the patient presented in the emergency room with vomiting and rapidly increasing pain in the upper left abdomen, and gastrointestinal obstruction due to progressive disease was suspected. Computed tomography (CT) and magnetic resonance imaging (MRI) scans showed an intrasplenic cyst () with a size of 14 × 13 × 16 cm. Fine needle aspiration revealed mesothelial cells and elevated levels of lipase but no tumor cells. Therefore, the diagnosis of an intrasplenic pancreatic pseudocyst was made. There were no signs of a splenic rupture or peritonitis. Because of the massive painful enlargement and the risk of intraperitoneal rupture, we performed a gastrocystic drainage from the cardia into the upper part of the intrasplenic cyst. The technique was undertaken with a short needle path, with less splenic tissue between the gastric wall and the cyst, using endosonography to place a 4 cm double pigtail. The pigtail drainage produced brown cloudy liquid without the presence of any tumor cells.
Within the following days, the patient experienced relief from pain and had bowel movements. A CT scan and ultrasound showed shrinkage of the cyst and air in the parenchyma of the spleen as the organ returned to its typical shape (). Free intra-abdominal air was not detected. The patient recovered without further pain in the upper left abdomen; however, she died six weeks later because of the progressive systemic disease.
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pmc-6393917-1
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A 21-year-old black woman, with no prior psychiatric history, presented at the Emergency Department of our hospital with an acute onset of psychotic symptoms.
These symptoms included paranoid delusion (she was convinced that her sister had made witchcraft against her and her boyfriend was cheating on her), psychomotor agitation, and initial insomnia.
The symptoms appeared four days after she was started on antituberculous therapy including isoniazid 300 mg/day, rifampicin 600 mg/day, ethambutol 1200 mg/day, and pyrazinamide 1500 mg/day, for pleural tuberculosis. She was also on pyridoxine 200 mg/day and thiamine 100 mg/day for prophylaxis against neuropathy associated with isoniazid.
In addition to the recently diagnosed pleural tuberculosis, the patient had no previous medical history and no history of substance abuse.
At mental state examination, she was poorly cooperative and suspicious, displayed psychomotor agitation, moving around constantly and had anxious humour and paranoid delusions. No errors of perception were detected and judgement regarding the morbid nature of her condition was impaired.
On examination, vital signs were stable and the physical signs, including neurological examination, were unremarkable. Testing including a complete blood count, chemistry panel, liver and thyroid function tests, and a urine toxicology screen was normal. A computed tomography scan of the head was obtained and showed no abnormality.
An initial diagnosis of drug-induced psychosis was made, once we considered the possibility that her psychotic symptoms could have been secondary to isoniazid, and the patient was admitted to our inpatient unit. All antituberculous therapy was discontinued and she was started on olanzapine 15mg/day.
By the seventh day, the psychotic symptoms had remitted, and the patient presented full insight into her clinical condition. The antituberculous therapy was reintroduced by the following order: rifampicin 600 mg/day at day 10, pyrazinamide 1500 mg/day at day 12, and ethambutol 1200 mg/day at day 17. Since these three antibacterial agents have efficacy in the treatment of pleural tuberculosis, it was decided not to introduce isoniazid.
At day 10, the antipsychotic started to be progressively reduced and by the time the patient was discharged (after 21 days of hospitalization) she was only taking olanzapine 5 mg/day and the antituberculous therapy.
The patient stopped taking olanzapine one week after discharge and at the four-week follow-up in outpatient consultation; she remained stable, with no recurrence of psychotic symptoms. The fast remission of symptoms and the good clinical outcome further supported our diagnosis of drug-induced psychosis.
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pmc-6393918-1
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A 51-year-old woman was diagnosed with CVID since 2000. Diagnosis was reached after her having contracted two episodes of pneumonia and developing chronic diarrhea. IVIG treatment was delivered every 45 days (4 gr/kg). Patient's IgG levels reached normal blood levels (> 700 mg/dl) with good clinical conditions. Since 2012, due to patient's personal reasons, IgG levels were not correctly kept within normal ranges; in 2017, the patient developed bilateral laterocervical lymph nodes (1 subtributary lymph node of 6.5 mm), lymph nodes in the mediastinal space (3.5 mm), and splenomegaly. Histological examination on supraclavicular and abdominal lymph node biopsies was negative for neoplasm. Clinical signs of fatigue, fevers, and night sweats as well as anemia elevated CRP levels, and hepatosplenomegaly was present. The patient was diagnosed with MCD and referred to our clinical immunology unit due to severe hypogammaglobulinemia and splenomegaly.
Blood count detected hypochromic microcytic anemia, mild neutropenia, and thrombocytopenia. The study of lymphocyte subpopulations showed an inverted CD4/CD8 T-cell ratio due to the numerically expansion of CD8+ T-cells. Immunoglobulin levels were low: IgG 345, IgA 2, and IgM 4 mg/dl. Wright agglutination test, markers of hepatitis B, hepatitis C, HIV, HHV8, tumor markers, serum and urine immunofixation, and fecal antigen H. Pylori were normal.
IVIG treatment was started at 5 g/Kg maintaining IgG levels > 700 mg/dl as well as i.v. iron therapy.
A complete abdomen ultrasound detected hepatomegaly (large wing 22 cm), splenomegaly (greater than 30 cm), with a lesion at the splenic pole of 26 mm, increased portal vein (20 mm), thick gastric and mesenteric walls, and modest free spillage in the right and left iliac fossa. A thoracic-abdominal CT with contrast medium showed the presence in both lungs of numerous occurrences of parenchymal thickening with nodular appearance, some confluent, with irregular morphology, and contours. The examination also highlighted the presence of bronchiectasis. Numerous paraaortic and iliac-obturator lymph nodes with a short axis of about 12 mm were identified. Other lymph nodes were identified in the celiac site and along the small gastric curvature. The liver, increased in volume, did not show focal lesions. Port vein ectasia (24 mm) and splenic vein ectasia (25 mm) were highlighted ().
Surgical counselling recommended splenectomy. As it was not an emergency surgery, in order to prevent any infectious surgical complication, IgG levels were maintained over 700 mg/dl for 2 months before splenectomy ().
Spleen biopsies were performed, which showed a predominant lymphocytic infiltration ().
A further thoracic-abdominal CT scan was performed three months after surgery, which showed a reduced size of the numerous paraaortic and iliac-obturator lymph nodes with a short axis of about 8 mm.
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pmc-6393920-1
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A 66-year-old Japanese man, 177 cm tall and weighing 66 kg (body mass index of 21.1), had been treated for hypertension for more than seven years. He had yearly medical evaluations but was never diagnosed with diabetes (postprandial glucose and hemoglobin A1c [HbA1c] levels in March 2017: 141 mg/dL and 5.4%, respectively). However, results of an annual medical check-up in March 2018 showed remarkable elevation of postprandial glucose and HbA1c levels (265 mg/dL and 11.4%, respectively). The following month (April), he reported symptoms of thirst and polyuria. His postprandial glucose and HbA1c levels on that day were 529 mg/dL and 13.1%, respectively. A high glycoalbumin level (43.2%) also suggested acute glucose elevation (). The patient's anti-glutamic acid decarboxylase antibody test was negative; however, because his postprandial C-peptide level was low (1.15 ng/mL), the patient's pancreas presumably had reduced insulin-secreting capacity. We noted that the patient's daily life had not changed in years; and he had no diabetic complications such as retinopathy, nephropathy, or neuropathy.
To identify the cause of hyperglycemia, we performed several imaging studies. Abdominal computed tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography (MRCP) revealed diffuse swelling that extended from the pancreatic body to tail (Figures –). In addition, MRCP showed narrowing of the associated main pancreatic duct (). The patient did not complain of any digestive symptoms such as upper abdominal pain; however, based on the imaging scans and elevation of serum immunoglobulin G4 (IgG4) levels (141.0 mg/dL), we diagnosed him with type 1 AIP.
To control diabetes, the patient began self-administering insulin injections: insulin aspart (Novo Nordisk) three times per day before each meal and insulin degludec (Novo Nordisk) before going to bed. Because tight adjustment of insulin dosage is required for achieving good glycemic control, the patient received a flash glucose monitoring system (Freestyle Libre™; Abbott Diabetes Care, Witney, UK) [] upon initiation of insulin. He initially had considerable ketosis (), but, soon after, the levels of total ketone bodies, acetoacetate, and β-hydroxybutyrate declined to the normal range (36 μmol/L, 12 μmol/L, and 24 μmol/L, respectively). By the end of April, the patient's total insulin dosage was 36 units/day (). In May, prednisolone (35 mg/day) was initiated for the treatment of AIP. At that time, 42 units/day of insulin was not sufficient to control glucose elevation (); the patient required a maximum of 52 units/day (). One month later, IgG4 levels declined to 54.3 mg/dL. The dosage of prednisolone, which was being tapered by 5 mg/day every 2 weeks, was 20~25 mg/day; and the total dosage of insulin was also lower than that of the previous month. However, 42 units/day of insulin was required to maintain glycemic control (). In addition, the combination of high-dose insulin and prednisolone caused our patient to gain 3.6 kg weight from the start of prednisolone initiation.
To improve glycemic control, empagliflozin was added to insulin therapy. Because we expected empagliflozin to lower blood glucose levels, we reduced the dosage of insulin to 29 units/day beforehand. Nevertheless, the patient experienced hypoglycemia 1 hour after breakfast and 1 hour after dinner on the day of empagliflozin initiation (). By the end of June, 20 days after the addition of empagliflozin, the patient had lost 1.2 kg and his total insulin dosage had declined to 20 units/day (). In July, the prednisolone dosage was reduced to 10 mg/day. Because the patient had achieved good glycemic control (postprandial glucose, HbA1c, and glycoalbumin levels: 159 mg/dL, 6.9%, and 14.3%, respectively), the total dosage of insulin was further reduced and then eventually discontinued (). Thereafter, he maintained good glycemic control (postprandial glucose and HbA1c levels: 130–180mg/dL and 5.4–5.8%, respectively) despite receiving only empagliflozin for diabetes (). However, his postprandial C-peptide level remained low (1.84 ng/mL), revealing that although the insulin-secreting capacity of his pancreas had slightly recovered, it remained insufficient.
In October, the patient's prednisolone dosage was 4 mg/day. His follow-up magnetic resonance imaging and MRCP showed that both the diffuse swelling of the pancreatic tail and narrowing of the associated main pancreatic duct had been ameliorated (Figures and ). To date, the patient's AIP is well controlled and has not relapsed.
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pmc-6393926-1
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An 85-year-old male was referred to GI clinic by his primary care physician for evaluation of anemia, weight loss, and positive stool occult blood. On obtaining a detailed history he admitted to having early satiety for the past three months and nonbilious vomiting and colicky epigastric abdominal pain for the past three weeks. His physical examination was pertinent for pallor and his abdomen was soft and nontender with no apparent swelling or hepatosplenomegaly. An esophagogastroduodenoscopy () was performed which showed a large mass in the gastric antrum obstructing the gastric outlet with a nonbleeding but friable ulcer on top []. Biopsies were sent due to the concern for Gastrointestinal Stromal Tumor (GIST), gastric lymphoma, or adenocarcinoma stomach. A Computerized Tomography (CT) abdomen was ordered to further look into the etiology of the mass and determine the size and presence of lesions elsewhere. The CT abdomen [] revealed a homogeneous submucosal mass of 5 cm x 2.5 cm size. The lesion was in the gastric antrum, homogeneous, and well contained within the gastric wall. There were no lymphadenopathy or remote lesions in the abdomen. This together with endoscopic features of the mass was suggestive of benign gastric lipoma. Surgical referral was done for possible surgical removal; however, it was advised to try to endoscopically resect or at least debulk the mass for palliation of his symptoms before attempting a surgical removal because of patient's debility and comorbidities.
After the failure of initial attempts to do a complete resection, partial piecemeal resection was made with the aim of debulking the lesion to relieve symptomatic gastric outlet obstruction. To limit bleeding, endoloops were deployed at the base of the lesion prior to the start of resection. Because of the location and size of the lesion, only 2 cm by 2 cm of the mass was resected. At the end of the procedure, one of the endoloops remained deployed tightly at the base protecting the margins and limiting blood supply []. The base of the lesion was cut using a needle knife to create shelves for the deployment of endoloops and prevent their slipping. After procedure, patient had good relief of symptoms. The pathology of the excision biopsy that came back positive for fatty tissue confirms the diagnosis of lipoma.
Repeated EGD () at four-week interval revealed well-healed scar at the site of the lipoma without ulceration [] and the patient at twelve-week follow-up remained asymptomatic.
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pmc-6393929-1
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An 81-year-old male with a history of heart failure with reduced ejection fraction, coronary artery disease with a history of coronary artery bypass grafting, atrial fibrillation (on warfarin), chronic obstructive lung disease, and diabetes mellitus presented to the emergency department with worsening shortness of breath. Two weeks prior to presentation, he had experienced sharp left-sided abdominal pain, which resolved without intervention. Approximately one week prior to presentation, he reported increased dyspnea and orthopnea, which remained present on admission. Additionally, he reported numerous episodes of spontaneous epistaxis for the past week.
On presentation to the emergency department, he was afebrile but tachycardic, tachypneic, and hypoxic to 83% on room air. No neurologic deficits were noted. Initial laboratory examination showed a white blood cell count of 21,500 cells/mm3 (reference range 4,500–11,000 cells/mm3) with 5% atypical lymphocytes, 22% band cells, 5% metamyelocytes, 2% myelocytes, a hemoglobin of 12.1 g/dL (reference range 13.9–16.3 g/dL), and a platelet count of 42,000/μL (reference range 150,000–450,000/μL). The INR was 4.4, PT was 40.9 seconds (reference range 12.3–14.0 seconds), and APTT was 46.3 seconds (reference range 25.4–34.9 seconds). Chemistries were notable for a creatinine of 3.4 mg/dL (baseline 1.5 mg/dL), total protein 6.5 g/dL (reference range 6.0–8.3 g/dL), albumin 3.2 g/dL (reference range 3.5–4.9 g/dL), AST 310 U/L (reference range 1–35 U/L), ALT 22 U/L (reference range 1–45 U/L), uric acid > 30 mg/dL (reference range 4.0–9.0 mg/dL), and lactate dehydrogenase (LDH) 12,851 U/L (reference range 100–220 U/L). Calcium was within normal limits. Serum free light chain analysis demonstrated elevated free kappa 13,889 mg/L (reference range 3.3–19.4 mg/L) with a kappa/lambda ratio of 491.5 (reference range 0.26–1.65). M-spike was 0.00 g/dL. Testing for HIV was negative. Epstein–Barr virus (EBV) testing was consistent with prior exposure, with EBV IgM negative and IgG positive. Computerized tomography (CT) of the chest, abdomen, and pelvis without contrast showed extensive mediastinal and hilar lymphadenopathy (measuring up to 2 cm), which had increased in size and extent since imaging six months prior which was obtained as routine follow-up for a left lung nodule; no lytic lesions of the bone were identified. He was initiated on dialysis in the setting of worsening renal failure and subsequently intubated for hypoxemic respiratory failure. Bronchoscopy revealed diffuse alveolar hemorrhage.
Peripheral blood flow cytometry showed an aberrant kappa-restricted monotypic plasmacytoid population comprising 7-8% of total (CD138+, CD38 bright+, cytoplasmic kappa+, CD19−, CD56 dim+, CD45+, CD20−, and CD22−). Bone marrow biopsy () showed a hypercellular marrow (60–70%), with an infiltrate of markedly pleomorphic kappa-restricted monotypic plasmacytoid cells, many with immature features, comprising approximately 50% of overall cellularity (CD138+, kappa+, lambda−, CD117 focal+, CD56−, CD20−, and TdT−, by immunohistochemistry). In situ hybridization study for EBV-encoded RNA (EBER) was negative; however, sensitivity may have been limited due to decalcification. Flow cytometry showed an immunophenotype similar to that of the peripheral blood specimen.
Cytogenetic analysis demonstrated 100% of cells with a complex karyotype consisting of a jumping 1q translocation between t(1;3), t(1;11), and t(1;12) resulting in gains of 1q; a balanced translocation between the long arm of chromosomes 8 and 14, associated with MYC-IGH fusion; interstitial deletions of chromosomes 4p and 4q; gains/partial gains of chromosomes 7 and 12, and a derivative chromosome 21 as a result of an unbalanced translocation t(13;21) resulting in three copies of 13q. FISH analysis showed 43% of cells with MYC-IGH [t(8;14)] fusion.
The differential diagnosis included plasmablastic lymphoma (PBL) and plasmablastic plasma cell myeloma (PCM). The favored diagnosis of PBL was largely based on clinical factors, including the highly aggressive presentation, lymphadenopathy both above and below the diaphragm, and absence of lytic lesions.
Due to advanced age, comorbidities, and impaired renal function, the decision was made to treat with dose-adjusted V-EPOCH (bortezomib, etoposide, dexamethasone, vincristine, cyclophosphamide, and doxorubicin) with the plan for 50% dose reduction of etoposide, doxorubicin, and vincristine and 25% dose reduction of cyclophosphamide on account of the patient being in acute renal failure. The patient received bortezomib (1.3 mg/m2 on day 1), doxorubicin (5 mg/m2 on days 1 and 2), etoposide (25 mg/m2 on days 1 and 2), and vincristine (0.2 mg/m2 on days 1 and 2). After two days of chemotherapy, he was noted to have unequal pupillary size. Magnetic resonance imaging (MRI) of the brain revealed watershed temporal lobe infarctions, and further chemotherapy was held. Based on his family's wishes, the patient was transitioned to comfort care measures and transferred to the palliative care unit. He was palliatively extubated and died 12 hours later.
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pmc-6393969-1
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A 4-year-old Caucasian boy presented to our urology out-patient clinic with purulent discharge from the distal part of the dorsum of his penis. His medical and social histories were unremarkable. The child was potty-trained and his developmental milestones and psychosocial status were compliant with his percentile. There was no consanguinity between the parents and they had no inherited disease. The mother’s pregnancy period was uneventful.
Our patient had undergone circumcision at a different hospital 6 months ago. His parents stated that although various antibiotics were used, the purulent discharge had been continuing for 6 months and the child had no complaints before circumcision. On admission, his temperature was 36.4 °C, pulse was 98 beats/minute, and blood pressure was 80/50 mmHg. His condition was reported as superficial dorsal venous thrombosis, known as Mondor disease (MD), from magnetic resonance imaging that was performed in the previous hospital. A physical examination revealed a small pinhole lesion at the distal part of our patient’s penis and a rigid cylindrical tube extending to the proximal side of the penis.
In laboratory analysis, his total white blood cell count was 6.1 × 103/mm3, hemoglobin was 13.2 g/dL, alanine aminotransferase was 19 u/l, aspartate aminotransferase was 21 u/l, and creatinine was 0.5 mg/dl; serological tests were negative: hepatitis B surface antigen (HbsAg), anti-hepatitis C virus (HCV), and anti-HIV. Urine analysis showed normal amounts of red cells with suspicion of urinary tract infection. Due to the fact that he was treated with various antibiotics regimens, no bacterial growth was detected in the swab culture samples, which were obtained from the fistula mouth. Genitourinary system ultrasonography revealed no additional anomaly. Fistulography/sinography revealed that there was no relationship between his urinary tract and the sinus (Fig. ). For treatment, surgical exploration was performed and a long sinus, apparently ending as a fibrous tract at the anterior surface of his pubic symphysis was found and resected (Fig. ). No complications were observed after the operation and during 9-month follow-up period. Histological examination revealed that the inner mantle was a multiple lamellar squamous epithelium and intense chronic inflammatory infiltration was observed in the parenchyma of the fibrous support forming the wall, often associated with cyst epithelium (Fig. ).
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pmc-6393981-1
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A 22-year-old female was referred with dyspnea and wheezing and an initial diagnosis of allergic asthma. Several weeks before she was admitted to the intensive care unit with acute respiratory failure due to a presumed severe asthma exacerbation. After weaning from mechanical ventilation she received formoterol and beclomethasone. Auscultation revealed pulmonary wheezing and a high-pitched stridor. Spirometry showed expiratory airflow obstruction and signs of severe fixed intrathoracic stenosis.
In retrospect, previous chest X-rays showed an intratracheal mass close to the carina (Fig. a, blue arrow). Emergency computed tomography (CT) confirmed the presence of a large obstructing intratracheal mass (Fig. b, blue arrow). Emergency bronchoscopy was performed under general anesthesia and revealed a large endotracheal tumor, blocking the airway almost completely (Fig. c). Bronchoscopic debulking was performed using electrocautery and cryotherapy, leaving a patent airway with a small residual tumor (Fig. d). The tumor was located 4 tracheal rings (approximately 2 cm) above the carina. Recovery was uneventful and the patient was discharged the next day without any remaining symptoms.
Histopathological examination showed an unclassifiable atypical myxoid spindle cell neoplasm with focal ALK expression and negative staining for keratins, EMA, TLE-1, p63, CD31, CD34, ERG, S100, SOX-10, TTF-1, SMA, desmin, myf4 and MUC4. Molecular analysis showed an EWSR1-CREB1 translocation, which can be found in primary pulmonary myxoid sarcoma (PPMS), AFH and in several other sarcomas. Under the working diagnosis of PPMS the patient underwent magnetic resonance imaging of both brain and kidneys and a whole body fluorodeoxyglucose positron emission tomography and CT. Both did not reveal any distant metastases.
The remaining tumor was removed through a cervical approach with a partial distal tracheal resection and end-to-end anastomosis with interrupted 4–0 PDS sutures (and two lateral interrupted 2–0 Vicryl sutures for approximation and anastomotic tension release) (Fig. e, patient’s head is left). The excised part of the trachea was cut open anteriorly and showed a tumor with a diameter of 15 mm located on the membranaceous portion (Fig. f). High-frequency jet ventilation was used to allow temporal surgical interruption of the trachea. The patient was extubated immediately after the procedure. Recovery was uneventful and the patient was discharged three days after surgery.
Microscopically, the tumor was removed completely. Histopathological examination at low power magnification showed distinct features of AFH with tumor nodules of variable size surrounded by a thick fibrous capsule with a rim of lymphoplasmacytic cells (Fig. a). High power magnification showed solid tumor nodules composed of bland myoid spindle cells (Fig. b). On follow-up, three years after surgery, the patient is asymptomatic, uses no asthma medication, has normal spirometry, and does not show any signs of recurrent tumor growth.
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pmc-6394003-1
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A 69-year-old Japanese woman who had never smoked was initially diagnosed with clinical stage IV (T2aN2M1b in 7th edition) lung adenocarcinoma with pleural and bone metastasis. She had no history of chronic obstructive pulmonary disease, diabetes mellitus, or any colonic diseases (such as constipation). At the initial diagnosis, no EGFR gene mutation was detected in malignant pleural effusion by real-time polymerase chain reaction (PCR). A combination regimen with carboplatin, paclitaxel, and bevacizumab was started as the first-line treatment (Fig. ). Next, pemetrexed, erlotinib, and docetaxel were administered as second-, third-, and fourth-line treatments, respectively. Each regimen was changed because of disease progression. Lung cancer progressed with increased pleural effusion after one cycle with gemcitabine (fifth-line treatment). Therefore, EGFR gene mutation was studied in pleural effusion, using the PCR fragment analysis/PCR clamp method, because the progression-free survival (PFS) of erlotinib was 24.7 months. Two EGFR gene mutations were detected, namely a deletion in exon 19 and a T790 M point mutation in exon 20. Based on the genetic results, afatinib was started as the sixth-line treatment, as recommended in the LUX-Lung-4 study []. Osimertinib was not an option because it was not yet approved at that time. The PFS of afatinib was 4.0 months. Treatment with afatinib was continued for 15.3 months (458 days) until osimertinib was approved.
Osimertinib (80 mg/day) was started as the seventh-line treatment at her age of 74, when the patient had a body mass index of 16.2 kg/cm2 and a performance status of 1. The adverse events, cutaneous pruritus and stomatitis, were graded with Common Terminology Criteria for Adverse Events (CTCAE, ver 4.0) as grade 1. However, there was gradual improvement in the shoulder pain that had resulted from bone metastasis, and oral administration of oxycodone was successfully stopped on the 87th day after osimertinib was started. The best response of osimertinib was stable disease. In follow-up computed tomography (CT) at day 97 after treatment with osimertinib, intra-mural air in the transverse colon and intra-hepatic portal vein gas were incidentally observed. Intra-mural air in the bowel intestine was considered to be pneumatosis intestinalis. However, no evidence of perforation was observed because free air was absent from the abdominal cavity (Figs. a, b and ). Progression of lung cancer was not recognized.
Because of the close association between pneumatosis intestinalis and EGFR-TKI usage [], pneumatosis intestinalis was considered to have been induced by osimertinib, which had been most recently administered. There were no subjective symptoms, such as abdominal pain. Her white blood cell count was 3500/μL (normal range: 3400-9200/μL), serum C-reactive protein was 0.0 mg/dL (normal range: 0.0–0.3 mg/dL), and creatinine kinase (CK) was 48 IU/L (normal range: 62–287 IU/L). Therefore, there were no findings to indicate inflammatory response, such as infection or intestinal necrosis.
We put the patient on fasting conservatively and interrupted osimertinib on the first day of fasting, monitoring her condition carefully. She received neither antibiotics, nor an oxygen supply. After improvement of pneumatosis intestinalis and intra-hepatic portal vein gas on abdominal CT taken on day 7 (Fig. c, d), we resumed meals orally on day 7 and osimertinib (80 mg/day) on day 10.
It had been possible to continue osimertinib successfully. With a PFS of 12.2 months, osimertinib was continued with beyond-progressive disease status. Our patient was administered osimertinib until a few days before she died of lung cancer. The total duration of osimertinib administration was 19.4 months (581 days) (16.1 months [484 days] since complete recovery from pneumatosis intestinalis). Her overall survival was 79.3 months.
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pmc-6394101-1
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A previously well 11-year-old female presented with progressively worsening headaches associated with bilateral papilledema. An MRI brain reported a large, heterogeneously enhancing fronto-temporal extra-axial lesion supplied by the right middle meningeal artery. The lesion was resected. Histology showed a mesenchymal chondrosarcoma featuring crowded sheets of primitive spindle to round tumour cells admixed with interspersed islands of neoplastic cartilage demonstrating foci of hyalinization and secondary ossification. Tumour cells were immunoreactive for CD99 but negative for epithelial membrane antigen and progesterone receptor. Ki-67 proliferation index was 1 to 2%. (Fig. ). The Archer™ FusionPlex Sarcoma Assay detected 2 gene fusion transcripts: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14) (Fig. a and ).
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pmc-6394101-2
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A 12-year-old female complained of persistent lower back pain associated with bilateral lower limb radicular symptoms over a 4-month duration. The MRI lumbar spine demonstrated an enhancing intradural, extramedullary lesion with adjacent dura thickening at the level of L2. Laminectomy and excision of the lesion was performed. Histology showed a mesenchymal chondrosarcoma featuring round to spindle cells with interspersed cartilage and bone formation. Tumour cells showed diffuse CD99 immunoreactivity and negative staining for epithelial membrane antigen, STAT6 and glial fibrillary acid protein. The Ki-67 index was about 30%. (Fig. ). Similar to the previous case, the Archer™ FusionPlex Sarcoma Assay detected 2 gene fusion transcripts: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14) (Fig. b).
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pmc-6394101-3
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An 11-year-old female presented with a 3-day history of acutely worsening lower limb weakness, numbness, urinary retention and lax anal tone. There was no prior history of associated trauma or injury, and no complaints of back pain. MRI spine revealed an extramedullary extradural soft tissue mass spanning T6 to T9 and causing moderate to severe spinal canal stenosis. This mass was heterogeneously enhancing with suggestion of a dural tail. She underwent emergency T7 to T9 laminectomy and excision of tumour. Histopathology reported a malignant round cell neoplasm with CD99 immunopositivity consistent with Ewing sarcoma (Fig. ). Fluorescence in situ (FISH) with an EWSR1 break-apart probe was unexpectedly negative. This FISH test was performed twice with different sections of the tumour. However, the Archer™ FusionPlex Sarcoma Assay reported a EWSR1 (exon 10)-FLI1(exon 8) translocation (Fig. ).
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pmc-6394672-1
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An 11-year-old girl, recently diagnosed with acute myeloid leukemia, was treated according to the NOPHO DBH AML 2012 protocol []. After the third chemotherapy course, consisting of cytarabine, mitoxantrone, and intrathecal methotrexate, she was admitted to the Department of Pediatric Oncology because of septic shock during febrile neutropenia. She was treated with meropenem and vancomycin and blood cultures were positive for Streptococcus mitis. Because of persistent fever, the central venous catheter was removed. Nevertheless, the fever persisted and a chest CT was performed, which revealed multiple abnormalities suggestive of pulmonary aspergillosis, which was confirmed by bronchoalveolar lavage (BAL). On day 5 of admission, she was started on AmBisome® (liposomal amphotericin B; 5 mg/kg in glucose 5%). Because of her persisting neutropenia, granulocyte colony-stimulating factor (G-CSF) was administered. Fever disappeared with neutrophil recovery, approximately 5 days after the start of G-CSF and AmBisome®.
Repeated blood tests showed normal renal function (creatinine 35 μmol/L, urea 3.7 mmol/L). Potassium supplementation was started because of hypokalemia. While phosphate concentrations were low at 0.54 mmol/L on day 5, they rose spontaneously and from day 7 onwards laboratory tests showed progressive hyperphosphatemia, with a maximum of 2.28 mmol/L (Fig. ).
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pmc-6394692-1
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A 57-year-old right-handed female presented with a 4-year history of right leg weakness with equinovarus, and a reduction in grip strength in the right hand. Weakness was such that she had to lift her right leg in and out of her car with her hands. The following year, she began to experience numbness in the right hand as well as low back pain and urinary urgency. A course of intravenous methylprednisolone provided no benefit. Her condition slowly progressed but remained unilateral after 18 years, with no evidence of bulbar dysfunction. There have been no persistent sensory symptoms, though she has complained of cold extremities and acrocyanosis.
The patient was an ex-smoker. Her only past medical history of note was of curative (local) treatment for ductal breast carcinoma (11 years after onset of neurological symptoms). There was no family history of neurological disease.
The gait was spastic and hemiparetic, but ambulation was unaided. There was a pyramidal catch in the right upper limb and obvious spasticity in the right lower limb. Mild pyramidal weakness (Medical Research Council (MRC) grade 4) and hyperreflexia were noted in the right upper and lower limb.
There was an asymmetrical spastic paraparesis, worse on the right, and requiring a frame to ambulate. There were early flexion contractures of the fingers in the right hand with marked hypertonia in the right upper and lower limbs. Pyramidal weakness was noted in the right upper (MRC grade 4 proximally and grade 3 distally) and lower limb (MRC grade 3). Pathological hyperreflexia was now also evident in the left lower limb, but the left plantar response was flexor whereas the right was extensor.
The patient had begun using a wheelchair after fracturing the right radius and ulna in a fall, and had been catheterised due to impaired mobility. She had evolved significant amyotrophy in the right hand and forearm.
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pmc-6394699-1
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A 70-year old woman presented at the emergency department with a week’s history of painful swelling in the right groin. She had no symptoms of bowel obstruction and no fever. The CRP and white blood cell counts (WBC) were 1.1 mg/L and 5.2 × 109/L, respectively (normal). Physical examination revealed a soft abdomen with painful swelling in the groin and a right-sided para-median incision, which she thought was due to some form of hernia operation, 25 years previously. The preliminary diagnosis was swollen lymph nodes, but an incarcerated femoral hernia could not be excluded. Computed tomography (CT) was performed and revealed a femoral hernia with an incarcerated appendix with fluid around the tip of the appendix (Fig. ). The hernia could not be reduced and the patient went to surgery. A low midline incision confirmed the diagnosis of de Garengeot’s hernia (Fig. ). As it was not possible to reduce the appendix from the hernia sac, a groin incision was performed. During the attempts to reduce the hernia, the appendix ruptured and it was extracted in pieces. Mesh repair was not chosen as the hernia was obviously contaminated; therefore, suture-repair was with prolene. The postoperative care was uneventful and the patient was discharged the next day. In the pathological examination of the appendix, there were signs of appendicitis but no malignancy. At the postoperative follow-up after 3 weeks, the patient was without any symptoms.
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pmc-6394699-2
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A 73-year-old female smoker presented at the emergency department with a 2-day history of right-sided inguinal pain and difficulties in passing urine. She had a previous history of a pancreatic cancer and undergone pylorus-preserving pancreaticoduodenectomy in 2005. There was no fever and CRP and WBC were normal (1.8 mg/L and 4.4 × 109/L). Upon examination, a 3-cm palpable aching mass in the right inguinal/femoral region was detected. There was no apparent erythema or other signs of infection in the cutaneous region overlying the mass. A CT revealed a suspected femoral hernia with adjacent inflammation and a tubular structure, presumed to be the vermiform appendix, in the hernia-sack. There were no radiological signs of small bowel obstruction. The patient received preoperative antibiotic prophylaxis (metronidazole, trimethoprim/sulfamethoxazole) and underwent open preperitoneal surgery with reposition of the hernia. The peritoneum was opened and an inflamed, but not perforated, appendix was found to be the content of the hernia. There were no signs of bowel obstruction at surgery. After appendectomy, a partially absorbable lightweight mesh (Ultrapro®) was placed and adhered with fibrin glue to cover the inguinal and femoral region. Postoperative clinical examination of the appendix revealed a transmural inflammation in the distal third of the appendix. No macroscopic tumour was present. The patient was discharged the day after surgery, but was readmitted 4 days after surgery due to constipation. The surgical-site seroma that developed was treated conservatively. All symptoms had resolved 4 weeks after surgery.
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pmc-6394700-1
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A 21-year-old man presented to his local hospital after collapsing at home due to leg weakness. He gave a 1-year history of persistent headache accompanied by a 2-month history of blurred vision, reduced sensation on the left side of his face and occasional difficulty in walking. He had a history of learning difficulties and anxiety with no other medical problems. On admission, he was fully conscious with a Glasgow Coma Score of 15/15. Cranial nerve examination revealed a left 4th and 6th nerve palsy causing diplopia and reduced sensation in all distributions of the left trigeminal nerve. There was left-sided nystagmus in conjunction with left cerebellar signs causing a broad-based gait. Fundoscopy revealed papilloedema. Peripheral neurological examination was unremarkable.
MRI brain with contrast revealed a broad-based and extra-axial mass measuring 4 × 4 × 5 cm in the left posterior fossa. It was isointense to grey matter on T1-weighted imaging (WI) and heterogeneous on T2WI imaging with avid heterogeneous T1WI enhancement post-gadolinium administration. Diffusion-weighted imaging showed no restriction with some small cystic components. Evidence of mass effect was noted on the left cerebellar lobe and the midbrain with evidence of hydrocephalus. Multiple small vessels were intimately associated with the lesion. An initial radiological diagnosis of meningioma was made (Fig. ).
Audiometry showed a left sensironeural hearing loss >70 db in the left ear, and ophthalmology review confirmed bilateral papilloedema with 6/9 acuity in the right eye and 6/18 acuity in the left eye.
The patient was positioned left side up in the park bench position with the head pinned. A left occipital external ventricular drain was placed to release cerebrospinal fluid under high pressure. Following this, a left suboccipital and retromastoid craniotomy was performed exposing the margins of the transverse and sigmoid sinuses. The dura was noted to be full after the bone flap was removed, and the cerebellum was tense and bulging after dural opening. Extra-axial tumour was encountered at 2 cm depth. The tumour was encapsulated but with no clear plane for dissection from the cerebellum and highly vascular. No definite site of attachment to the dura or brain was found. Microsurgical dissection was performed with neuro-physiological monitoring ensuring preservation of the 5th, 7th and lower cranial nerves. During dissection, severe bleeding was encountered, especially venous, which necessitated 13 units of packed red cell transfusion. The haemorrhage was only fully controlled after total microsurgical resection. The dura was then closed with bone flap replacement, and the patient transferred to intensive care.
Macroscopic analysis showed a mixed cream and brown rubbery tissue. Microscopic appearances showed distinct nests of medium to large plump epithelioid cells with prominent nuclei and a granular eosinophilic cytoplasm. The nests were intersected by numerous fine vessels and showed no evidence of necrosis. Staining revealed moderate numbers of cells with granular to needle-shaped cytoplasmic inclusions that were PAS positive and diastase-resistant. Immunocytochemistry was diffusely positive for myo-D1 with nuclear positivity for INI1. Stains for desmin, CK-MNF, Cam 5.2, chromogranin, synaptophysin, s100, EMA, smooth muscle actin, CD117, PLAP, CD30, GFAP, beta-hCG, AFP, hepar-1 and RCC were all negative. Given that a broad differential had been excluded, transcription factor E3 (TFE3) staining was performed and showed strong nuclear positivity confirming an alveolar soft part sarcoma.
Immediately post-operation, the patient had worsening of his cranial nerve dysfunction with a new left facial weakness. During the next few weeks, his cranial nerve palsies gradually improved, and he was eventually able to ambulate independently. At this point, he was referred to the oncology team for further investigation.
Extensive imaging in search of a primary lesion site was all negative, including repeat whole-body FDG-PET scans over a 2-month period. At 10-month follow-up, he is living at home requiring no formal package of care. He is currently receiving regular follow-up as part of surveillance by his oncology team. A repeat MRI brain at this time showed no evidence of disease recurrence, and CT of the chest, abdomen and pelvis showed no disease primary (Fig. ).
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pmc-6394701-1
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A 67-year-old woman presented to the Department of Oral and Maxillofacial Surgery at Nagoya Ekisaikai Hospital with a chief complaint of a mass in the left upper lip. The patient had become aware of left upper lip discomfort in early August 2017, but had not sought medical attention as she was otherwise asymptomatic. She visited a local dentist for a routine checkup, who referred her to our department for further examination. In terms of medical history, she had hypertension that was adequately controlled by oral medications. Facial appearance was symmetrical, with no swelling of the lips (Fig. ). On intraoral examination, an elastic soft mass measuring 5 mm × 5 mm was palpable within the left upper lip. The mass was mobile and well-circumscribed. The overlying mucosal surface was normal in color, with no evidence of ulceration.
Ultrasound examination revealed a hypoechoic mass (5 mm × 5 mm × 5 mm) with heterogeneous internal echoes, but without calcification (Fig. ). The provisional diagnosis was benign tumor of the left upper lip. The mass and overlying mucosa were excised under local anesthesia. The mass was solid and round with a smooth, dark-red surface (Figs. and ). The excision was straightforward, with no adhesion to the surrounding tissue. No invasion into muscle was noted. The postoperative course was uneventful without infection and lip movement was good. To date, 1 year postoperatively, the patient has experienced no recurrence of the disease.
Histopathological examination showed a mildly dilated salivary duct surrounded by granulation tissue and fibrous connective tissue with infiltration of inflammatory cells (Fig. ). No evidence of tumor was noted. The sialolith comprised an amorphous substance of varying density and granular material of various sizes. Based on these findings, a diagnosis of minor salivary gland sialolithiasis was established.
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pmc-6395013-1
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We report the case of a 34-year-old, multigravid female who presented to the Obstetrics/Gynecology Clinic with complaints of right-sided pelvic pain and a palpable “knot” within the right anterior pelvic wall region. She reported first noticing this mass four years prior, following her cesarean section, and attributed this to scar tissue from her LTCS incision. The patient reported a two-month history of focal increased tenderness at the site, particularly with menstruation, and described the discomfort as constant, dull, and aching. Her pain started around the mass and radiated towards her back.
Physical examination revealed normal vital signs and an abdominal right lower quadrant hard, non-mobile, tender-to-touch, 1.6 cm mass palpated 3 - 4 cm cranial to her LTCS cutaneous scar.
The palpable mass was further evaluated with an ultrasound (US) which revealed a 1.6 cm complex, predominantly hypoechoic, intramuscular mass exhibiting foci of internal vascularity and punctate echogenic foci (Figure ). The imaging differential diagnostic considerations included an inflammatory process, hematoma, or soft tissue mass.
Subsequently, magnetic resonance imaging (MRI) of the pelvis with and without intravenous gadolinium contrast was performed to better characterize the abnormality. The MRI revealed a 4 cm area of mildly heterogenous T1 and T2 signals with enhancement after the administration of gadolinium contrast. The mass was located in the medial aspect of the right rectus abdominis muscle, immediately adjacent to a curvilinear area of magnetic susceptibility artifact, which corresponded to the LTCS incision (Figure ). Differential diagnostic considerations included scar endometriosis (particularly, given our patient’s history), scar/granulation tissue, desmoid tumor, lymphoma, focal muscle strain, and, less likely, metastatic disease.
As a result, a US-guided percutaneous core biopsy of the right rectus abdominis soft tissue mass was performed using an 18-gauge spring-loaded coaxial biopsy system. The histopathology demonstrated the presence of endometrioid glands surrounded by endometrial stroma (Figure ). The glands were lined by columnar epithelial cells and the stroma was composed of small, bland fusiform cells with scant cytoplasm. For the diagnosis of endometriosis, two of the three characteristic findings (extrauterine foci of endometrial glands with variable amounts of stroma and hemorrhage) were present [].
Surgery to resect the ectopic endometrial tissue and to perform lysis of the adhesions of the LTCS incision area was subsequently performed.
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pmc-6395014-1
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A 58-year-old man with Grade IV bilateral avascular necrosis underwent a single-stage THA (metal on polyethylene; Duraloc, Johnson & Johnson, USA). The left side was operated upon first through a modified Hardinge approach and, owing to greater trochanter partial avulsion, a tension band wiring was undertaken. On the right side, the THA was uneventful. The post-reduction stability and range of movements were checked and the wound was closed. A bedside X-ray showed a proud head and a non-centric reduction on the left THA (Figure ).
We undertook an urgent computed tomography (CT) to identify the cause, presumed to be an intra-articular obstacle. The axial cuts of CT showed a piece of bone inside the joint that leads to an increase in joint space (Figures , , ).
The patient was taken up for surgical re-exploration, and the obstructive bone piece (an osteophyte) was removed. A fluoroscopy then confirmed concentric reduction (Figure ).
Postoperatively, the patient followed a non-weight-bearing protocol for three weeks, followed by gradual mobilization with walker. At the 1.5-year follow-up, the patient’s Harris hip score is 91 and findings on X-ray are satisfactory (Figure ).
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pmc-6395016-1
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A three-year-old female presented with the inability to straighten her right knee and fullness over the right popliteal fossa for one year. There was no history of trauma or other pertinent past medical history. The patient denied significant activity-related or night pain, fevers, chills, night sweats, or weight loss. She had no reported sensory or motor nerve deficit.
Upon presentation, vital signs and laboratory tests were within normal limits. On physical exam, the right knee was held in flexed position at rest with visible fullness in the popliteal fossa. The right lower extremity also appeared larger than the contralateral side. The patient’s gait revealed decreased right stride length and the inability to extend her right knee.
Magnetic resonance imaging (MRI) of the right knee demonstrated a 1.8 x 1.2 x 1.3 cm (craniocaudal x transverse x anteroposterior (AP)) lobulated lesion within the popliteal fossa in direct continuity with the tibial nerve. The lesion was T1 isointense to muscle (Figure ) and was heterogeneously hyperintense on proton density fat-saturated (Figure ) sequences. Gadolinium was not administered during the study.
More proximally, there were additional lesions within the right inguinal subcutaneous soft tissues (Figure ) and the gluteus maximus muscle belly (Figure ), which demonstrated signal characteristics similar to the lesion within the popliteal fossa with the exception of high intrinsic T1 signal (Figure ).
The patient underwent an uncomplicated right knee mass excisional biopsy. Intraoperatively, the mass was noted to be adherent to the nerve with dark coloration and as much of the lesion as possible was removed without putting the tibial nerve at risk. A hematoxylin and eosin (H and E) stain demonstrated nerve tissue with intervening vascular spaces of varying sizes lined by bland epithelium (Figure ), and CD31 immunohistochemistry positively stained the epithelial cells (Figure ).
Postoperatively, the patient did not have any major complaints or side effects. She continues to be under close surveillance by the orthopedic oncology department.
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pmc-6395017-1
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Our patient was a 47-year-old male with past medical history including aorto-occlusive disease status post femoral-popliteal bypass, with peripheral artery disease, coronary artery disease, and tobacco dependence. He initially presented with right groin and lower-extremity numbness with an otherwise unremarkable review of systems. The patient was diagnosed with right limb occlusion with critical limb ischemia of the right lower extremity due to an aorto-femoral bypass graft occlusion. Initial workup included a computed tomography (CT) angiogram of the chest, prior to treatment of the occlusion with a femoral-femoral bypass.
Computed tomography angiography (CTA) of the chest revealed a 1.4 cm nodule at the left lung apex, slightly cavitary in nature together with a left paratracheal soft tissue density that was suspected to be adenopathy related to pneumonia that was being treated. The lesion was considered to be incidental with the recommendation of short-term follow-up with another chest CT in three months. There was no prior imaging for comparison.
Two months later, the patient presented to the emergency room with bilateral chest pain and associated shortness of breath and dyspnea. He was admitted to the intensive care unit (ICU) for respiratory instability and treated for multiple bilateral pulmonary embolisms. The diagnosing CTA of the chest showed an increase in the left upper lobe mass density with 2.5 cm x 2.4 cm dimensions including marked interval increase in diffuse mediastinal and bilateral hilar adenopathy involving levels T5, T10, and T11, suggesting a primary neoplasm with metastatic disease. The primary lesion was pleural based and thought to be invading the pleura. Once the patient stabilized, a CT-guided left upper lobe biopsy was obtained.
Biopsy revealed a poorly differentiated non-small cell carcinoma consistent with squamous cell carcinoma. Sections showed nests and individual large cells with brisk mitotic activity with medium to large nuclei. There was considerable tumor necrosis. Immunohistochemical stains showed positive staining for p63 and negative for TTF1. Morphology and stains were consistent with squamous cell carcinoma of the lung. It was suggested that the pulmonary embolisms the patient experienced were attributed to a hypercoagulable state related to malignancy.
Oncologic positron emission tomography (PET)/CT scan suggested invasion of the pleura with perivascular and lymphatic metastatic involvement, confirming a hypermetabolic left upper lobe mass of 2.5 cm x 2.8 cm with SUV of 10.7 (Figures -) and hypermetabolic left hilar adenopathy (Figures -). Subsequently, a magnetic resonance imaging (MRI) of the brain was completed for evaluation of metastasis. A 6 mm ring-enhancing metastatic lesion was noted in the left frontal lobe with surrounding edema (Figures -). The imaging was otherwise unremarkable.
The initial treatment plan included a radiosurgery approach to the solitary brain lesion. The lesion was treated with five volumetric arc therapy (VMAT) beams with the isocenter located in the center of the lesion, which was contoured on the MRI images. A total peripheral dose of 2500 cGy delivered in five fractions was prescribed to the planning target volume (PTV). Dose-volume histogram (DVH) analysis of the target lesions showed dose statistics (minimum, maximum, and mean) of 2396.0 cGy, 2941.2 cGy, and 2759.3 cGy to the PTV, respectively. The total volume of the gross lesion and margins was 0.4 cc. The total volume of tissue receiving 100% of the total prescribed dose (V100%) was 0.5 cc. The patient did not receive any form of systemic therapy, such as chemotherapy or immunotherapy.
Post-treatment MRI of the brain at one-month follow-up after the initial brain lesion diagnosis showed a reduction in size from the original 6 mm nodule (Figures -) on the stealth protocol study. Remarkably, repeat PET/CT four weeks post-treatment stereotactic radiosurgery treatment (SRS) revealed no appreciable mass in the left upper lobe (Figures -) with resolution of hypermetabolism. Fluorodeoxyglucose (FDG) activity in the left hilum gave SUV level 2.2-2.7, an improvement from the previous SUV of 9.3 (Figures -). Chest CT confirmed that there was no longer an appreciable left upper lobe mass. An additional follow-up chest CT was completed two months later (three months post-treatment) confirming complete resolution of the original left upper lobe pleural-based mass.
The most recent imaging at seven months post-treatment continued to remain free of residual left upper lobe and mediastinal masses on chest CT. Brain MRI showed complete resolution of the solitary metastatic focus in the left frontal region. There was no evidence of new metastatic disease.
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pmc-6395018-1
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A 70-year-old male presented to our medical center with one episode of “black tarry stools” in the morning. Three weeks prior to this admission, the patient underwent esophagogastroduodenoscopy (EGD), which revealed a 6-mm, clean-based ulcer at the gastroesophageal junction without active bleeding. Colonoscopy, performed during the same visit, was significant for mild diverticulosis and small nonbleeding hemorrhoids. He had a medical history of chronic active alcohol abuse, prior gastrointestinal bleeding, hypertension, diabetes mellitus type 2, and non-small-cell lung cancer (T2N0M0; status post-lobectomy, 18 years ago). The patient had been consuming 3-4 drinks of liquor daily; however, he was non-smoker and drug-free. He was under therapy with oral iron sulfate, metformin, pantoprazole, enalapril, and multivitamins. Review of the systems was significant for fatigue, malaise, and confusion. His vitals included blood pressure 137/81 mm Hg, heart rate 108 beats per minute, temperature 36.9°C, respiratory rate 16 per minute and oxygen saturation 100% on room air. On physical examination, he was in no acute distress but appeared lethargic. The cardiopulmonary examination was inconclusive for abnormalities. The abdomen was soft and non-tender without organomegaly.
He underwent extensive diagnostic workup. The details of his laboratory studies are provided in Table .
Chest radiograph showed left-sided thoracotomy with chronically elevated left hemidiaphragm but no airspace opacity, effusion, or pneumothorax. He was started on intravenous proton-pump inhibitor therapy for upper gastrointestinal bleeding. Subsequently, EGD showed nodular, edematous and erythematous mucosa with petechial hemorrhages in the gastric fundus and body, with questionable prominence of underlying vasculature (Figure ).
The endoscopy was inconclusive for an active bleeding focus; duodenum appeared normal. He also received one unit of packed red blood cells. During the course of hospitalization, he continued to experience black-colored stools. His hemoglobin demonstrated a gradual downward trend, prompting the need for a second endoscopic evaluation. On day 7 of admission, repeat EGD revealed frank fresh blood along with blood clots in the proximal body of the stomach. The clots were irrigated, suctioned, and removed with Roth net. A pinpoint area under one of the removed clots was actively oozing, which mimicked a Dieulafoy’s lesion; primary hemostasis was achieved with a combination therapy using epinephrine injection, cautery, and hemoclip application (Figure ).
On day 10 of admission, laboratory studies showed an acute elevation of liver enzymes (alanine transaminase 1096 IU/L; aspartate aminotransferase 123 IU/L; alkaline phosphatase 47 IU/L; and total bilirubin 1.3 mg/dL). Drug-induced liver injury and obstructing lesion were considered plausible. Computed tomography (CT) with pancreatic imaging protocol revealed a large 4.2 x 2.9-cm pseudoaneurysm, likely arising from the gastroduodenal artery, located in the head of the pancreas, with evidence of moderate intrahepatic ductal dilatation and portal vein obstruction. Given the large size with compressive features of the surrounding structures, embolization of the pseudoaneurysm utilizing 11 coils with thrombin/Gelfoam injection was performed (Figure ).
A two-day post-procedure abdominal ultrasound showed an increase in the size of the pseudoaneurysm, measuring 5.6 x 5.8 cm. Interventional radiology then repeated the embolotherapy with thrombin injection. In the next few days, he continued to report both melena and bright red blood per rectum, but his hemoglobin remained stable. On day 19 of admission, third EGD was performed, which was unremarkable for an active bleeding spot. His hemoglobin started to drop but another endoscopic evaluation was not recommended as last EGD was unremarkable. Therein, a bleeding scan showed an equivocal left-flank bleeding focus, not suggestive of a lower gastrointestinal collection, but possibly a small bowel focus with low-grade extravasation. Subsequently, his hemoglobin dropped to 6.3 g/dL, with no signs of overt gastrointestinal hemorrhage. On day 27 of admission, abdominal paracentesis ruled out hemoperitoneum and CTA abdomen showed possible hemorrhage in the left flank outside the gastrointestinal tract, possibly due to an infarcted spleen.
After a discussion with surgery and gastroenterology teams, a repeat EGD with a side-viewing duodenoscope was planned. It initially demonstrated an extremely small blood-oozing spot from the ampulla of Vater. The blood extravasation increased shortly after first pinpointing the source. Over the next few seconds, the blood started to ooze at a rapid rate. In the next one minute, frank intermittent bleeding through the ampulla of Vater into the duodenum was identified (Figure ).
These findings were consistent with hemosuccus pancreaticus, likely due to the bleeding from the pseudoaneurysm of the gastroduodenal artery. After the precise etiology establishment, surgical intervention was considered due to prior failed attempts of embolization. However, there was a high risk of perioperative mortality given the patient’s comorbid conditions, poor clinical and performance status and complexity of the anatomical location of pseudoaneurysm. Therefore, a conservative approach was preferred by the patient and his family. On the other hand, he continued to experience intermittent hemorrhage requiring blood transfusions with episodes of hemodynamic instability. An urgent embolization of the pseudoaneurysm was planned. However, the patient and his family refused to undergo therapeutic procedures. The patient continued to worsen clinically over the next few days but he wished not to be resuscitated. He died in a couple of days following hemodynamic instability.
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pmc-6395019-1
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We present the case of a 44-year-old Peruvian female with SLE with periodic high fevers and elevated C-reactive protein (CRP) levels, treated with anakinra.
In 2003, at the age of 29, she presented with rash, headache, intermittent joint swelling, and recurrent fevers. The following year, she was diagnosed with aseptic meningitis, pneumonitis, and possible adult Still’s disease. She was lost to follow-up over the next six years, though was started on hydroxychloroquine by an outside provider during this time. In 2010, she returned for follow-up during pregnancy and the diagnosis of systemic lupus erythematosus was made. Her lupus was characterized by a positive anti-nuclear antibody ([ANA], 1:160 H/S), elevated levels of anti-beta 2 glycoprotein antibody (26-36, normal 0-20 Std IgM units), positive lupus anticoagulant by dilute Russell viper venom time (dRVVT) confirmation, low complement 3 (C3), leukopenia, thrombocytopenia (<100, normal 150-350 K/mm3), fevers, alopecia, and arthritis. In April 2011, further workup revealed low-titer positive anti-smooth muscle antibodies and elevated liver function test (LFT) results and was diagnosed with autoimmune hepatitis. Transaminitis improved on prednisone and azathioprine and later switched to mycophenolate mofetil.
Beginning in 2010, the patient had recurrent episodic fevers and multiple hospitalizations. Her fevers occurred throughout the day without a specific pattern with a temperature of 102-104 °F. The fevers were associated with markedly elevated levels of high-sensitivity CRP (hs-CRP), with the highest hs-CRP of 281 mg/l (normal <0.29). She was hospitalized two to three times per year (mostly in spring and fall), with extensive infectious work-ups, as well as a negative periodic fever panel.
In September 2016, she was started on anakinra, an interleukin-1 (IL-1) inhibitor. On the current regimen of anakinra 100 mg daily, mycophenolate mofetil 500 mg twice daily, hydroxychloroquine 200 mg twice daily, and a tapering dose of prednisone (<5 mg), she had improvement of fevers and joint symptoms. On a 26-month follow-up since anakinra initiation, she has had one episode of fever but otherwise remained afebrile with a significant drop in hs-CRP levels. During the febrile episode in July 2018, she had a fever (103 °F) with bandemia of 22% (normal 2% to 6%) and elevated hs-CRP levels of 96.4 (normal <0.29). Infectious workup was unrevealing and was restarted on anakinra after discharge.
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pmc-6395020-1
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An 86-year-old male with no known past medical history presented to his primary care physician with complaints of sudden onset of right hip pain and progressive difficulty in walking for three weeks. He did not follow-up with any physician for over 30 years. He reported severe pain that was exacerbated by any physical activity and movement. His pain was minimally relieved with rest and radiated to bilateral lower extremities. Outpatient chest and right hip X-rays revealed multiple lytic lesions, suggestive of metastatic disease. The patient was admitted to the hospital for further workup. X-rays of the pelvis revealed multiple lytic lesions throughout the entire pelvis and bilateral femurs (Figures -). Laboratory tests were significant for the following: hemoglobin level of 9 g/dl, creatinine 2.8 mg/dl, calcium 13.5 mg/dl, albumin 2.7 g/dl, total serum protein 9.6 g/dl, globulin 7.1 g/dl, albumin to globulin ratio 0.3, free PSA 6.9ng/mL and total PSA 78.0 ng/mL. Urinalysis showed proteinuria and hematuria. Magnetic resonance imaging (MRI) of the spine revealed diffuse metastatic disease (Figure ). A bone scan showed multiple foci of increased activity throughout bilateral ribs, spinous processes of the lumbar spine, bilateral shoulders, left iliac wing and left acetabulum consistent with metastatic disease (Figure ). At this point, the working diagnoses included MM and metastatic prostate cancer. Urology proceeded with a prostate biopsy. Despite negative intra-operative frozen sections for prostate cancer, a bilateral orchiectomy was performed due to high clinical suspicion of prostate cancer. The aim of this procedure was to achieve early androgen deprivation to prevent spinal cord compression. The patient underwent the procedure without any complications. He was started on steroids for suspected spinal cord compression. Intravenous fluid hydration and zoledronic acid were administered for hypercalcemia. Subsequent laboratory tests showed improvement in calcium level. Serum creatinine level remained elevated between 2 mg/dl and 3 mg/dl. MM workup including serum protein electrophoresis, serum, and urine free kappa and lambda light chains were supportive of a diagnosis of MM: free kappa serum level 19.7 mg/dl, free lambda serum level 3099 mg/dl, free kappa urine 164 mg/L, free lambda urine 1500 mg/L, and free kappa/lambda urine ratio 0.11. Immunofixation was interpreted as monoclonal IgG lambda present. According to the Revised International Myeloma Working Group Diagnostic Criteria for MM, tissue evidence of >10% of bone or extramedullary plasmacytoma is necessary for a definitive diagnosis of MM. It was recommended by orthopedic surgeons that the patient be on bed rest indefinitely due to high fracture risk as a result of his bone frailty. The patient was given the option to proceed with bone marrow biopsy and appropriate treatment based on results. Radiation therapy to help with the pain was also recommended. After extensive discussion about all diagnostic, therapeutic and palliative options patient opted for comfort measures only. He did not want to pursue further diagnostic workup as his quality of life was expected to be severely diminished. The patient was eventually discharged to a nursing home for hospice care.
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pmc-6395072-1
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34 years old patient, Gravida 6 Parity 3, previous 2 miscarriages (18 weeks & 12 weeks), was seen first at 23 weeks 4 days of pregnancy. She had undergone previous 3 cesarean sections and an evacuation of retained products of conception by curettage in 2013 for partial hydatidiform mole. At 27 weeks 5 days, she was admitted for vaginal bleeding. On further evaluation by ultrasound (), the diagnosis of placenta percreta was made (later confirmed by MRI). At 29 weeks, she had constipation with 2 episodes of urinary retention and she was put on continuous bladder drainage. She developed urinary tract infection and treated with appropriate antibiotics based on culture sensitivity. She continued to have repeated bouts of vaginal bleeding of varying amounts and severe constipation from 31 weeks of gestation.
At 32 weeks 4 days, patient underwent cystoscopy, which had shown signs of cystitis with no definite infiltration. She underwent classical cesarean section under combined anesthesia (Epidural + General). The umbilical cord was tied near insertion and the placenta was left in situ because there was no spontaneous separation. Then, the uterus was closed. Prophylactic temporary bilateral internal iliac artery balloons were inserted and inflated earlier. Uterine artery embolization was performed post cesarean section and selective angiograms confirmed adequate positioning. The patient required large volume of particles and still had incomplete embolization with the lower part of the uterus still showing some unblocked branches on both sides.
Post-operatively, she was transferred to labor ward and within 4 hours, she developed clinical features of pulmonary embolism (PE). Some of her symptoms included drop in O2 saturation to 81%, tachycardia, chest pain, peripheral cyanosis, and signs of respiratory distress. Then, she was transferred to ICU and was initiated on heparin infusion. On chest X-ray, she had no atelectasis, pneumothorax, or pleural effusion. An immediate CT scan did not show any PE. There was no Doppler evidence of venous thrombosis in the femoral and popliteal venous systems. Later on day 1 post-operative, she had focal patchy consolidation left base and was started on parenteral meropenem, linezolid and fluconazole for the next 5 days. She had two consecutive CT scans on post-operative on days 2 and 3, which were negative. On ECG, there was right heart strain. She was now on enoxaparin. On the post-operative day 5, she was prescribed parenteral piperacillin-tazobactam for 5 days and she was shifted out of ICU next day. She had 500ml vaginal bleeding on the 9th post-operative day. 2 units PRBC were transfused. She was switched to oral cefuroxime and metronidazole and planned to continue on long-term low dose antibiotic. On post-operative day 11, she received methotrexate. On day 12, the MRA had shown the placenta was still enhancing with some areas of infarct and separation, fluid collection in the uterine cavity (present from day 1 post op, not increasing), with large ovarian veins, hugely distended and extensive pelvic varices, R>L, extensive collaterals. Her CRP was 12.7 mg/L.
On post-operative day 13, she underwent total abdominal hysterectomy. Intraoperatively, the bladder was densely adherent, drawn up, with large vessels in the broad ligament. The lower segment was bulging due to the presence of the placenta. The uterus was about 24 weeks’ size with adherent omentum. There was 100 mL of old blood in the cavity and the placenta was partially infarcted. The total blood loss was 2000 mL.
Post-operatively, she was in ICU for 2 days receiving anticoagulation treatment (bridging treatment with enoxaparin + warfarin) and patient controlled analgesia. She had a bout of severe cough on day 4 and loose motions on day 5. She was diagnosed with vault hematoma, which was retro-vesical, about 120 ml in volume, treated conservatively. On day 10 she had been discharged from the hospital.
She presented to the ER on the post-operative day 16 and was diagnosed with chronic pulmonary embolism. Patient had a pulmonary embolus within the right middle lobe pulmonary artery; areas of sub-segmental embolus within the right lower lobe pulmonary arteries. She had no pleural effusions or consolidation and no mediastinal lymphadenopathy. She was readmitted for 4 days. She was started on therapeutic enoxaparin + warfarin. She was continued on 6 mg warfarin for 4 weeks after discharge.
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pmc-6395427-1
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An 11-year-old female presented with an incidental left-sided neck mass. Computed tomography (CT) scan revealed a 6.0 cm mass that was biopsied and found to be a PGL. At age 12, 123I-MIBG SPECT/CT scintigraphy showed lack of tracer avidity of the described mass. She had surgical resection at this age and was found to have a vagal PGL and a solitary lymph node involvement. Monitoring with whole body magnetic resonance imaging (MRI) scan for the next 3 years showed no recurrence or metastases. At the age of 15 however, her CT scan revealed a recurrent 1.0 cm left-sided neck mass, multiple subcentimeter bilateral lung lesions and, 1.0 and 0.8 cm pancreatic body and tail masses, respectively. A 123I-MIBG SPECT/CT scintigraphy remained negative. All biochemical tests remained normal. No treatment was initiated. Periodic surveillance for the next 3 years showed stable disease until she was lost to follow-up. Although asymptomatic, progressive disease was found at the age of 21, involving 2 left cervical lymph nodes measuring 2.0 and 0.9 cm, and left 2nd rib and left iliac bone lesions all positive on CT, MRI, 68Ga-DOTATATE, and 18F-FDG PET/CT scans. She underwent modified radical left neck dissection. Pathology revealed multiple cervical lymph node metastases, with the largest measuring 2.7 cm. One year later, the patient was found to be stable on CT, MRI, and 68Ga-DOTATATE PET/CT scans and biochemical tests remained normal. No further treatment was initiated.
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pmc-6395427-2
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A 53-year-old female presented with metastatic retroperitoneal PGL. Her initial biochemical tests revealed elevated urine norepinephrine (NE), dopamine (DA), and plasma normetanephrine (NMN). CT and MRI scans revealed a 6.0 cm retroperitoneal mass encircling the aorta. Although her 68Ga-DOTATATE, 18F-FDG, and 18F-FDOPA PET/CT scans revealed varied detection rates of multiple bone/bone marrow lesions and a right lung lesion, her 123I-MIBG SPECT/CT scintigraphy demonstrated only the retroperitoneal mass.
Due to the invasion of the retroperitoneal mass into the left aortic wall, it could only be partially resected. Histopathology confirmed the presence of PGL measuring 9.0 cm. Short-acting octreotide administered subcutaneously (sc) at 25 micrograms twice daily was initiated post-operatively with no relief of symptoms and little reduction in the level of catecholamines. Three months after surgery, disease progression was noted on MRI scan, with re-demonstration of the partially resected retroperitoneal PGL measuring 3.0 cm. There was an interval appearance of several lymph node and bone metastases. She underwent peptide receptor radionuclide therapy (PRRT) with 160 mCi of [90Y-DOTA]0-D-Phe1-Tyr3-Octreotide (90Y-DOTATOC) and 2 doses of 200 mCi of [177Lu-DOTA]0-D-Phe1-Tyr3-Octreotide (177Lu-DOTATOC) over a duration of 5-months. There were significant decreases in chromogranin A (CgA), urine DA, and plasma and urine NMN and NE. Her plasma metanephrine (MN) level was elevated, which was thought to be partly “stress” related. CT and MRI scans showed mixed results: a significant decrease in size of the retroperitoneal PGL from 3.0 cm pre-PRRT therapy to 1.8 cm post- PRRT therapy, decrease in size of the cervical and abdominal lymph nodes, and unchanged thoracic lymph node and lung lesions. There was interval appearance of new metastatic bone lesions and both enlargement and regression of previous bone lesions. 18F-FDG PET/CT scan showed a decrease in metabolic activity of the retroperitoneal PGL, cervical, thoracic, and abdominal lymph node lesions. 18F-FDG PET/CT scan likewise demonstrated decreased activity and disappearance of some of the bone lesions but increased activity of one bone lesion.
Eight months after her PRRT, she developed progressive disease, elevated CgA, methoxytyramine (MTY), plasma DA, plasma, and urine NMN and NE and extensive bone metastases on imaging. CT, MRI, and 18F-FDG PET/CT scans revealed a residual retroperitoneal mass, stable cervical lymph node lesions, increase in the size of one of the abdominal lymph node lesions, and both interval progression and development of new bone lesions. Chemotherapy with cyclophosphamide, vincristine, and dacarbazine (CVD) was started and resulted in a mixed response with a decrease in the size and activity of the abdominal lymph node lesions, stability in the size of the thoracic lymph node and lung lesions, and both stability and increase in the number and size of bone lesions as demonstrated by CT, MRI, and 18F-FDG PET/CT scans. Chemotherapy was discontinued after 10 cycles due to pancytopenia, which could have been caused by PRRT. She then had further disease progression. Bortezomib and clofarabine experimental therapy was subsequently tried but had further disease progression and hence, patient was started on combination capecitabine and temozolomide. However, the patient expired the following year.
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pmc-6395427-3
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A 14-year-old male was diagnosed with metastatic abdominal PGL. Biochemical tests at that time showed elevated CgA, urine NMN and NE. CT and MRI scans showed an abdominal PGL measuring 9.1 cm with invasion of the inferior vena cava (IVC) and bone metastases. Resection of the abdominal PGL was performed. Histopathology revealed a PGL measuring 9.0 cm. Two months after surgery, CT angiography revealed a 2.5 cm recurrent abdominal mass. 18F-FDG PET/CT scan confirmed this mass with several additional bone metastases. 123I-MIBG SPECT/CT scintigraphy did not show avidity for the aforementioned lesions.
One year later, MRI scan showed an interval increase in the size of the abdominal PGL to 3.0 cm, a thoracic soft tissue lesion, and multiple lymph node and bone metastases. 18F-FDG PET/CT scan demonstrated recurrent abdominal PGL and bone metastases. Only close monitoring was done due to the slow disease progression, limited chemotherapeutic options, and absence of alarming symptoms.
Four months later, MRI, 68Ga-DOTATATE, and 18F-FDG PET/CT scans again demonstrated slowly progressive metastatic disease. He received 3 cycles of PRRT with 100 mCi each of 90Y-DOTATOC. Eight months later, CT and [68Ga-DOTA]0-D-Phe1-Tyr3-Octreotide (68Ga-DOTATOC) PET/CT scans showed stable disease. However, 6 months later, the CT scan demonstrated an interval increase in size of the abdominal PGL to 4.3 cm without any evidence of new lesions on 18F-FDG PET/CT scan. Hence, he was started on lanreotide 120 mg/sc every 28 days and experimental therapy with ONC201 625 mg/weekly and demonstrated stable disease on 18F-FDG PET/CT and CT scan after 3 and 6 months, respectively, along with a decrease in plasma CgA at both time points.
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pmc-6395427-4
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A 57-year-old male was diagnosed with metastatic para-aortic abdominal PGL. During work-up for hypertension, CT scan revealed a 5.1 cm retroperitoneal para-aortic mass, a 2.5 cm right renal superior pole mass, and a 2.5 cm left adrenal mass, which was later found to be a non-functioning adenoma. The 123I-MIBG SPECT/CT scintigraphy was positive only for the para-aortic mass. 18F-FDG PET/CT scan showed avidity for the para-aortic mass and mild uptake for the gastric cardia. Initial biochemical tests were normal. Resection of the para-aortic and gastric lesion masses, and right partial nephrectomy were performed. Histopathology confirmed a 4.2 cm para-aortic PGL, RCC, and GIST. Immunohistochemical staining (IHC) for GIST demonstrated loss of SDHB staining without loss of SDHA staining, whereas RCC demonstrated loss of neither SDHB nor SDHA staining.
Seven months later, 18F-FDOPA and 68Ga-DOTATATE PET/CT showed recurrence of the retroperitoneal PGL with a subcentimetric soft tissue lesion in the left neck, considered another primary head and neck PGL, which along with mediastinal lymph node metastasis could not be localized by neck MRI scan retrospectively.
Two years later, MRI scan showed stable left adrenal mass, vertebral hemangiomas, liver and renal cysts, elevated plasma epinephrine (EPI) and DA, and significant uptake on 68Ga-DOTATATE and 18F-FDOPA PET/CT on the post-operative site, cervical, and thoracic area. No treatment was initiated.
Two years later, MRI, 68Ga-DOTATATE, and 18F-FDG PET/CT scans demonstrated stable disease and no treatment was initiated.
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pmc-6395427-5
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A 53-year-old male presented with a 4.0 cm right posterior mediastinal mass which was incidentally discovered on his chest radiograph, and subsequently by 18F-FDG PET/CT scan. Urine NMN and NE were elevated. Excision of the mass was done, and histopathology confirmed the PGL.
Three years and 2 months later, he showed recurrence of the mediastinal mass on MRI scan and a year and a half later, he developed painful bone metastases which were minimally avid on 123I-MIBG planar scintigraphy. 111In-pentetreotide scintigraphy had findings suggestive of metastatic disease. At this time, urine MN and CgA were elevated. He was started on lanreotide 120 mg/sc every 14 days which resulted in pain control, stabilization of bone metastases, and reduction and normalization of urine MN and CgA, respectively. This was followed by radiation therapy to bone metastases. Seven months later, the lanreotide dose was tapered to 120 mg/sc every 21 days due to development of side effects and antihypertensive management was switched from bisoprolol to propranolol 120 mg/day.
A year and a half later, the patient developed progressive bone metastases. He was started on metronomic doses of temozolomide (TMZ) 75 mg/m2 for 21 days every 4 weeks in addition to lanreotide therapy and the dose of propranolol was increased to 240 mg/day resulting in stable disease 3 months later on CT, MRI, 18F-FDG, and 68Ga-DOTATATE PET/CT scans. At that time, CgA, plasma DA, urine NE, and urine NMN were elevated. Five months later,18F-FDG PET/CT scan showed stable disease and at that time lanreotide was withdrawn due to development of nausea, vomiting, diarrhea, and hyperglycemia. Repeat 18F-FDG PET/CT scan 6 months later showed stable disease and subsequently, TMZ was withdrawn due to long standing grade 2 lymphopenia and the patient continued only on propranolol 240 mg. However, 12 months later, he developed progressive disease on 18F-FDG PET/CT scan and a combination of metronomic doses of TMZ (75 mg/m2 for 21 days every 4 weeks) and lanreotide 120 mg/sc every 21 days was resumed.
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pmc-6395427-6
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A 20-year-old male was diagnosed with metastatic retroperitoneal PGL. Biochemical testing showed elevated urine NMN. CT and 18F-FDG PET/CT scans showed a retroperitoneal mass anterior to the IVC and a periaortic lymph node metastasis. The retroperitoneal mass on biopsy revealed PGL. Two months later, the periaortic lymph node and retroperitoneal PGL were excised. Histopathology confirmed a 4.4 cm PGL and one metastatic lymph node. 18F-FDOPA and 18F-FDG PET/CT scans performed 7 months after surgery revealed a right acetabulum metastatic lesion with normal biochemical tests.
Two years and 7 months after surgery, a recurrent retroperitoneal lesion with metastatic lymph nodes and other soft tissues were seen on 18F-FDG and 18F-FDOPA PET/CT scans in addition to the acetabular lesion. 68Ga-DOTATATE PET/CT scan was positive only for the acetabular lesion. Biochemical tests were normal. One year later, 18F-FDG, 68Ga-DOTATATE, and 18F-FDOPA PET/CT scans and biochemical tests showed stable disease. To date, no treatment for metastatic disease has been initiated.
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pmc-6395427-7
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A 52-year-old male initially presented with hypertension and palpitations. Four years later, during work-up for left flank pain, a large retroperitoneal tumor was incidentally discovered. Presumably arising from the kidney, he underwent left nephrectomy with left adrenalectomy. Histopathology confirmed PHEO in the resected 4.9 cm retroperitoneal mass and in a metastatic lymph node, however, there was no renal involvement.
Ten years after the surgery, a left upper back mass was discovered. MRI scan revealed a 5.0 cm T3 vertebral body lesion extending into the epidural space with resultant cord compression. 18F-FDG PET/CT scan demonstrated metastatic bone disease involving C2-C3, T3, L5, and right iliac bone. Biochemical testing revealed elevated urine NE. He underwent T3 spinal tumor resection. Histopathology confirmed a 5.7 cm PGL with positive margins. Two months later, the patient received radiation therapy with a total of 30 gray divided into 10 fractions along C6 through T5. At that time, 123I-MIBG SPECT/CT scintigraphy showed uptake in T3 and S1 bone lesions.
Three months after external radiation therapy, he received 319 mCi of 131I-MIBG therapy. Post-therapy whole-body 131I-MIBG SPECT/CT scintigraphy showed uptake in the thoracic vertebrae and other axial bone lesions with a new bone lesion in the right femur. Three months after 131I-MIBG therapy, he underwent shave biopsy of new skin lesions in left lower shin and right-hand dorsum, which were found to be well-differentiated squamous cell carcinoma.
After 6 months of 131I-MIBG therapy, the 123I-MIBG SPECT/CT scintigraphy showed decreased uptake in the index lesions at T3 and S1 as compared to pre-therapy 123I-MIBG SPECT/CT scintigraphy without any new foci of increased radiotracer uptake from post-therapy 131I-MIBG SPECT/CT scintigraphy. However, 123I-MIBG SPECT/CT scintigraphy after 12 months of 131I-MIBG therapy revealed disease progression with extensive metastatic bone disease involving most of the spine, pelvis, and patchy areas of uptake in the scapulae, proximal humeri, proximal femurs, sternum, and multiple bilateral ribs. A year after initiation of 131I-MIBG therapy, metastatic disease involving the bones, bone marrow, lungs, and liver were found on 68Ga-DOTATATE and 18F-FDG PET/CT. During this time, plasma, and urine DA, NE, and NMN, and plasma MN and MTY were elevated. CVD chemotherapy was started on a 21-day cycle. The patient progressed 4 months later on 18F-FDG PET/CT with appearance of new lesions in the lungs. He was evaluated for pembrolizumab experimental therapy, however, he expired 4 months later due to suspected leptomeningeal disease.
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pmc-6395427-8
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A 29-year-old female initially presented with epigastric pain and weakness. CT scan showed a large 10.4 cm vascular mass in the porta hepatis, possibly obliterating the right adrenal gland, thought to be an arteriovenous malformation for which she received 4 cycles of coil embolization therapy. Subsequently, she developed lower limb weakness and difficulty in walking. A year and a half later, MRI spine showed a T7 bone lesion with extradural extension and soft tissue swelling with severe spinal cord compression, which was treated with endovascular embolization. However, 2 months later, due to worsening symptoms, she underwent vertebrae body stabilization and excision of the tumor, which was confirmed to be a metastatic PGL on histopathology. Biochemical testing revealed elevated plasma NE and CgA.
Within a year, she again developed high-grade spinal cord compression from a recurrent T7 vertebral body bone lesion, which was visible on 68Ga-DOTATOC PET/CT along with lesions in the skull base, cervical spine, right first rib, right iliac bone, both lungs, and the right adrenal bed. She underwent emergent surgical decompression of the T7 lesion and 1 month later received post-operative radiation of 54 grays divided over 30 fractions from T5 through T9. She remained stable without any disease progression for the following 14 months.
However, at 33, there was again recurrence in the T7 vertebral body and the lesion in the right adrenal bed, along with scattered metastatic bone and lung lesions which were visible on both 18F-FDG and 68Ga-DOTATATE PET/CT scans. The 18F-FDOPA and 123I-MIBG SPECT/CT scans demonstrated a much lower number of metastatic lesions and were found to be inferior in comparison to 68Ga-DOTATATE PET/CT (). At that time, her plasma NMN and CgA were elevated. Surgical intervention was deemed high-risk, therefore, she received four cycles of PRRT treatment with 200 mCi of 177Lu-DOTATATE without any adverse events and was found to be stable on CT, 18F-FDG, and 68Ga-DOTATATE PET/CT scans 1-month after completion of PRRT. At that time, there was significant decrease in her plasma NMN and CgA.
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pmc-6395427-9
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A 46-year-old woman presented with abdominal pain and her CT scan revealed a large retroperitoneal tumor, which was surgically resected and found to be a 6.8 cm PGL on histopathology. She remained disease free for the following 6 years.
At age 53, the patient reported left shoulder pain which on MRI scan revealed a lytic lesion in the coracoid process and received 2.5 gray of external beam radiotherapy over 13 fractions. Subsequent CT and 68Ga-DOTATATE PET/CT scans additionally showed liver lesions ranging from 3.9 to 5.9 cm in size, bilateral lung lesions, multiple metastatic neck, mediastinal, retroperitoneal lymph nodes, and a left inferior pubic ramus bone metastasis. However, on 123I-MIBG SPECT/CT scintigraphy, only the left coracoid process and left inferior pubic ramus bone metastases were visible. An ultrasound guided liver biopsy was performed, and pathology revealed a metastatic PGL. Biochemical tests revealed elevated plasma NMN, MTY, and CgA. A follow up CT scan after 2 months revealed an interval increase in the size of the liver lesions and recurrence of the retroperitoneal PGL. Subsequent imaging with 68Ga-DOTATATE, 18F-FDG, and 18F-FDOPA PET/CT scans re-demonstrated the aforementioned lesions. One of the liver lesions located in the left hepatic lobe did not show any DOTATATE avidity so she underwent embolization of this lesion in anticipation of starting PRRT with 177Lu-DOTATATE. She subsequently received external beam radiotherapy to the pubic bone then underwent 2 of the 4 cycles of 177Lu-DOTATATE therapy without any complications. However, she showed progression on CT, 18F-FDG, and 68Ga-DOTATATE PET/CT scans and hence, 177Lu-DOTATATE therapy was stopped. At that time, her plasma CgA and MTY were elevated and had increased in comparison to pre-PRRT levels, whereas plasma NMN had normalized. Following the progression of her disease, she was recommended to undergo CVD chemotherapy.
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pmc-6395427-10
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A 44-year-old male developed neck pain and was subsequently found to have a 3.0 cm C2 vertebral body lesion on CT spine. He developed new onset dysphagia and further imaging work up revealed a lesion anterior to C5-T1, which appeared to be displacing the esophagus along with a heterogenous 7.7 cm retroperitoneal tumor in the right peri-adrenal region which was biopsied and revealed PGL on histopathology. The scan also revealed a right fifth rib, T11, S1, and bilateral lung metastases. The biochemistry tests showed slight elevation of urine NMN, DA, and EPI as well as plasma NE and CgA. He underwent 123I-MIBG SPECT scintigraphy 1 month later which revealed uptake in C2 lesion, right anterior and inferior lateral rib cage, anterior first rib, S1, and retroperitoneal tumor. The patient underwent cervical spine decompression and fusion surgery, with subsequent radiation to the cervical spine, and then received three cycles of 131I-MIBG treatment. The 6-month post-MIBG therapy restaging 123I-MIBG SPECT scintigraphy demonstrated disease progression. The CT scan showed an increase in the number of lung lesions and an increase in the size of the retroperitoneal mass and retroperitoneal lymph nodes. A tumor vs. bland thrombus was also observed in the IVC and the patient was put on anticoagulant therapy. He was started on TMZ (150–200 mg/m2 for 5 days every 4 weeks) chemotherapy. Three months later, following 2 cycles of TMZ, the patient progressed per imaging on CT, 68Ga-DOTATATE, 18F-FDG, and 18F-FDOPA PET/CT scans, revealing an increase in size of the retroperitoneal tumor along with bilateral lung lesions and extensive bone metastases (). Biochemical tests at that time were normal except for elevated plasma CgA. For treatment of his metastatic disease, the patient was recommended a chemoswitch from standard to metronomic doses of TMZ (75 mg/m2 for 21 days every 4 weeks) and is awaiting follow up evaluation.
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pmc-6395456-1
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A 74-year-old woman underwent laparoscopic sigmoid colectomy with D3 lymph node dissection for sigmoid cancer at our institution. She had no clinical and familial history of familial adenomatous polyposis. Sigmoid colon cancer (S, type 1, 40 × 38 mm, tub1, pT2, med, INFβ, ly1, v0, pN0 (0/11), pathological stage I) was pathologically diagnosed from the resected specimen, and the resection was curative. The patient was regularly followed up without adjuvant chemotherapy.
Eighteen months after sigmoid colectomy, a solitary abdominal tumor in the mesentery of the small intestine was detected by contrast-enhanced computed tomography (CT). The tumor was 20 mm in size, enhanced by contrast medium, and showed partly unclear boundary to adjacent tissue (Fig. a–c). Serum carcinoembryonic antigen (CEA) and carbohydrate antigen (CA19-9) levels were within the normal range. Although we suspected this tumor represented peritoneal recurrence, fluorodeoxyglucose positron emission tomography (FDG-PET) did not show abnormal uptake. Follow-up CT after 1 month showed that the tumor had enlarged to 25 mm in size (Fig. c). Although no pathological diagnosis was obtained, the radiologist of our hospital and the colorectal group conference of our department evaluated the tumor as a recurrent tumor, potentially peritoneal metastasis from the sigmoid colon cancer. We discussed about the treatment strategy for the patient in a conference and applied chemotherapy using capecitabine, oxaliplatin, and bevacizumab (CAPOX + bevacizumab (Bmab)) to observe the response of the tumor to chemotherapy and to examine whether other lesions suggestive of recurrence developed. Then, we fully explained the situation to the patient and her family. They accepted the treatment strategy we suggested.
After administration of 3 cycles of CAPOX + Bmab, the tumor showed further enlargement. At that time, we thought that histological diagnosis of the tumor was necessary before applying second-line chemotherapy. Surgical resection of the tumor was therefore performed.
The tumor existed in the jejunal mesentery, 100 cm from the ligament of Treitz. Although invasive growth was apparent, no evidence suggested invasion to the adjacent organs. We therefore resected 40 cm of the jejunal segment together with the tumor (Fig. ). Microscopically, the tumor comprised fibroblasts, myofibroblasts, and infiltrating inflammatory cells. Immunohistochemical staining showed positive results for β-catenin and vimentin, focally positive results for desmin and α-smooth muscle actin (α-SMA) and S-100, and negative results for CD34 and CD117 (c-kit) (Fig. a–d). Based on these findings, the tumor was histologically diagnosed as a desmoid tumor. As of 36 months after resection of the desmoid tumor, neither the sigmoid colon cancer nor desmoid tumor has recurred.
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pmc-6395480-1
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As the first infant living in the third pregnancy of a 23-year-old mother, born by cesarean section in the weight of 2280 gm and having asymmetric intrauterine growth retardation, the female baby was referred to our unit with the diagnosis of neonatal cholestasis on the postnatal day 10, due to having acholic stool since birth and development of hyperbilirubinemia on the postnatal day two. The body weight was 2275 gr (3-10%), the height was 48 cm (10%), the head circumference was 33 cm (10-50%), the vital findings were; heart rate was: 124/min, blood pressure was: 70/48 (58) mm Hg, fever was: 36.7° C (axillary), and respiratory rate was: 52/min, spO2: 98%. In the physical examination, sclera and skin of the case were icteric and dirty-yellow looking; the case had hypertelorism, slanted eyes, and discrete hand fingers; and cardiac 3°/6 systolic murmur was detected. During the abdominal examination of the case who had no respiratory complaints, the liver and the spleen were not palpable. Laboratory investigations showed that aspartate aminotransferase (AST): 35 IU/L, alanine aminotransferase (ALT): 10 IU/L, albumin 3,3 gr/dL, alkaline phosphates (ALP) :280 IU/L, lactate dehydrogenase: 854 IU/L, blood glucose : 80 mg/dL ammonia: 80 mcg/dL values were normal; total bilirubin(t bil): 8mg/dL, direct bilirubin(d bil): 4.05 mg/dL, gamma-glutamyltransferase (GGT): 1185 IU/L values were high. Complete blood count, bleeding profile, blood gas, urinary examination were normal; infection criteria were negative. Abdominal ultrasonography (US) revealed a cystic structure without a real wall structure with an irregular contour of about 3 cm on the gladder ball wall. The lesion was evaluated in accordance with the pseudo biliary, and there was no evidence of choledochus in the case who had a finding of triangular cord at the level of the right-left hepatic venous junction. These findings were evaluated as compatible with biliary atresia. However, besides biliary atresia, the portal venous whose diameter was getting thinner was seen to open to the VCI without forming an intrahepatic branch after a short follow-up of portal hilus. MR angiography confirmed the diagnosis of biliary atresia, and abdominal CT angiography confirmed Abernethy malformation type 2 ( and ). The case, whose acolic stools were continuing, was followed by total oral feeding, although hypoglycemia was not observed, by pausing breastfeeding, and lactose-free formulas were used until galactosemia was excluded. A, D, E, and K vitamin supplements were increased due to cholestasis, and ursodeoxycholic acid treatment was started. In the echocardiography (ECO) of the case with cardiac murmur, whose peripheral pulses are open, and whose pre-postductal saturations and 4 extremity blood pressures showed no difference, inlet VSD was measured as 4 mm, secundumatriyoseptal defect (ASD) was 3 mm, and the stenosis gradient was measured as 40 mm Hg; and pulmonary stenosis and poststenotic dilatation were detected at valvular level. Spironolactone treatment for heart failure was initiated in the case. In the diagnosis of neonatal cholestasis separator, sepsis, viral infections, and hereditary metabolic diseases were excluded. Pheno-typic appearance was also evaluated in terms of Allagille Syndrome due to laboratory findings and ECO findings. Due to normal intrahepatic bile ducts in the abdominal US and no visible colloid, no posterior embryotoxic in the eye, no butterfly vertebrae in the vertebrae graphics, and because pulmonary stenosis was valvular but not peripheral in the ECO, the possibility of this diagnosis was excluded.
Exploration was performed to the case on the postnatal day 35. During the intraoperative follow-up, the gallbladder was atrophic, the liver did not have a cirrhotic appearance, but the main hepatic ducts were fibrotic, and portal vein was getting thinner at the hepatic hilus level and continued as an obliteration structure and also showed a slight extension to the VCI. Tip-to-tip anastomosis was performed between the portal vein and the umbilical vein by planning recanalization of the portal vein into the rex area of the left portal vein into which the umbilical vein flowed so that the portal vein could provide adequate blood supply. Intraoperative Doppler US showed that there was a slight flow in the umbilical vein; however, it was determined that sufficient revascularization could not be achieved because the segmented portal branches extending from the rex region into the liver were flebo-obliterated. The operation was completed with hepatic portoenterostomy (Kasai procedure) (-).
The two-month-old case who was re-hospitalized due to weight loss; had a body weight of 2950 gr (<3%) and a height of 50 cm, the infection criteria were negative, AST/ ALT: 325/144 IU/L, GGT: 102 IU/L, T bil/D bil: 1,44/ 8.9 mg/dL, bleeding profile was usual, nutrition was re-regulated by increasing calorie support.
The five-month-old case which applied to the emergency service due to bloody stool, bloody vomiting, the tendency to sleep had tachycardia, tachypnea, and abdominal distension. A patient with massive upper-lower GIS bleeding due to portal hypertension and hemorrhagic shock had hemoglobin: 5 gr/dL, INR:> 2,5, AST/ALT: 1202/544 IU/L, ALP: 677 IU/L, GGT: 43 IU/L, TIV/DIV: 15/7 mg/dL. Treatment for hypovolemic shock was performed and hemorrhage control was provided at the end of the second day.
Correspondingly, preparations were started for the case of a liver transplant candidate at postnatal month six due to the progression of chronic venous occlusion related to accompanying Abernethy malformation type 2 despite Kasai operation, and because the liver became fibrotic at the infantile stage and liver failure developed.
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pmc-6395486-1
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The patient that has been reported here was a 40-year-old male. Chief complains were an epigastric pain, abdominal bloating in postprandial time, and progressive increase of darkish color of his urine. The previous history of illness was not contributory to his present illness. Family history revealed that his uncle had colon cancer and lung cancer, however, a family history of hepatitis or jaundice or liver diseases could not be substantiated. The patient was a smoker and has been consuming about 10 cigarettes per day for the last 24 years. He was a social drinker and consuming about 350 mL of beer once a week. The patient reported no history of allergy. Also, there was no history of taking nutrient supplements. He has been working in recycling industry. There was no history of previous surgery or blood transfusion.
According to the history of present illness, the patient started taking oral Za ga-do Kowa® from January 2016 for his constipation. He began to feel heartburn from around March 2016 and then started to consume Ohta-Isan® and Gasuto-ru®. From early April 2016, he frequently felt malaise as well as epigastric pain. Around mid-April 2016, he noticed yellowish skin. From May 2016, the color of urine was found to be dark and brown. The stool color became somewhat whitish.
Along with time and mainly from mid-May 2016, the extents of malaise feelings became exacerbated. On May 17th, 2016, he noticed considerable nausea, noticeable loss of appetite, and increasing order of malaise. On May 19th, 2016, he was admitted to a clinic for his complaints. The local clinic referred him to our department on that day, and he was admitted to Imabari Saiseikai Hospital, Ehime, Japan.
On admission, physical examination revealed that his height was 168.7 cm and weight was 84.6 kg. He was conscious of admission. The skin and bulbar conjunctiva were icteric. However, there was no murmur at heart or lung. There were marks of insect bites on extremities. Also, acne was found on the back. Bowel sounds were normal. The abdomen was flat, soft and without any noticeable tenderness. Liver and spleen were not palpable. He had a blood pressure of 116/72 mm of Hg. Pulse rate was within normal range (88 beats per minute).
The laboratory findings on admission have been shown in and described below: aspartate trans-aminase (AST); 988 IU/I, alanine aminotransferase (ALT); 847 IU/I, alkaline phosphatase (ALP); 320 IU/I, gamma-glutamyl transpeptidase (-GTP); 126 IU/I, total bilirubin (T-bil); 11.88 mg/dl, direct bilirubin (D-bil); 7.77 mg/dl, PT-activation; 58%, lactate dehydrogenase (LDH); 386 IU/I, alpha fetoprotein (AFP); 73.9 ng/mL, carcinoembry-onic antigen (CEA); 2.8 ng/mL and PIVKA2; 30mAU/mL. The patient was negative for markers of acute infections (IgM type antibodies) against cytomegalovirus (CMV), herpes simplex virus (HSV), Epstein-Barr virus (EBV), hepatitis A virus (HAV), hepatitis B virus (HBV), hepatitis C virus (HCV) and hepatitis E virus (HEV). The titers of anti-mitochondrial antibody titer [<20 (-ve)], anti-smooth muscle antibody (<20) and anti-LKM-1 antibody were negative. Serum mac-2 binding protein glycosylation isomer (M2BPGi) was 9.21 and serum hepatocyte growth factor (HGF) was 2.31 ng/mL.
Liver elastography showed VTQ: 4.0 m/s (3 times of average). This hardness corresponds to Inuyama classification F4 or more. (VTQ Reference standard value: F0 0.67 to 1.44 m/s, F1 0.81 to 1.63 m/s, F2 0.89 to 1.85m/s, F3 1.11 to 2.29m/s, F4 1.52 to 2.94m/s Multicenter 2012)). Fibro scan showed liver stiffness of 7.5kPa (just above the upper limit of normal).
Contrast CT showed the irregular atrophy of the interior ~ anterior compartment of the liver with features of fatty liver. Obvious space occupying lesion (SOL) could not be visualized in the liver. Volume rendering image of the liver revealed potato-like regrowth (potato-liver) (). Measurement of liver volume showed that it was 1428 mL in May 2016, 1007 mL in July 2016 and 1259 mL in November 2016. Along with the improvement of liver function, recovery of volume and augmentation of the anterior zone were seen.
The liver biopsy specimen revealed features of liver cell necrosis (multilobular hepatic necrosis) and infiltration of inflammatory cells containing relatively higher ratios of lymphocyte accumulation (). Partially bridging fibrosis, hyperplasia of cholangiole, and expansion of fibrous portal areas was also shown (). Vacuolation of the nucleus of liver cells (glycogen nucleus) were few and fatty depositions was negligible. Features of cholestasis and iron deposition could not be marked. The findings of liver biopsy were compatible with a diagnosis of DILI.
As all serum viral markers including hepatitis viruses (A, B, C, and E) were negative, we performed the drug lymphocyte stimulation test (DLST). DLST for Za ga-do Kowa® and Ohta-Isan® were positive, however, that for Gaster® was negative. Cinnamon and fennel are components common to Za ga-do Kowa® and Ohta-Isan®, and they showed borderline stimulation (). Drug-induced liver injury score (DDW-J 2004) was four points.
After admission, the patient stopped taking medicine. Subjective symptoms gradually disappeared. However, it was the sixth week after hospitalization, the liver enzyme rises and bilirubin re-elevation started. At one time PT became 45% and T-bil increased to 14.8mg/dL.
It presented a severe liver injury. After that, we were given ursodeoxycholic acid and late evening snack (LES) therapy. We continue treating in a protective way for liver, and the patient left the hospital after 15th week when the levels ALT and AST came below 100 IU/L, and the levels of serum bilirubin decreased to 4 mg/dL.
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pmc-6395489-1
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A 56-year-old woman was presented with an abdominal maculopapular rash with sparing related to herpes zoster. The patient had chronic hepatitis C infection genotype in May 2013, and she had been on boceprevir treatment for 8 weeks. She had no history of trauma, smoking or drunk and any medications include herbal or illicit drugs. ANA, AMA, Anti Ds SMA levels were all negative. The patient was begun to treat with peginterferon alfa-2b and ribavirin. This combination was ceased since the viral load was not decreased after 12 weeks. In October 2013, boceprevir including triple therapy was started. After using peginterferon alfa-2b and ribavirin for 4 weeks, boceprevir was added to the main treatment. Eight weeks later, in the 12th week, severe back and right side pain occurred. Bright skin rash with blisters was observed under the right breast of the patient (). Routine laboratory tests were within normal range. After consulting with a dermatologist, the case was diagnosed as herpes zoster. At the same time, triple therapy was discontinued because of the high viral load. Antiviral therapy was not prescribed and lesions were healed with symptomatic treatment within few days.
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pmc-6396038-1
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A 70-year-old man was admitted unconscious. Despite recent recurrent episodes of melena and alteration of his general condition, the patient had stubbornly refused any hospitalization. Pallor, hypothermia, severe hypotension and bradycardia were noticed at arrival. Unenhanced emergency brain and body computed tomography (CT) were performed (Figure ). Spontaneous hypodensity of blood comprised between 25–30 Hounsfield units (HU) was diffusely found in cerebral venous sinuses (a, white arrowheads on sagittal view), in the body large vessels (c, white arrowheads in the abdominal aorta and vena cava) and the cardiac cavities (b, white arrowheads). This hypodensity contrasted markedly with the spontaneous luminal hyperdensity (60 HU) in the second duodenum (black arrow on axial [c] and coronal [d] views). The preliminary diagnosis of severe anemia resulting from recent bleeding in the upper gastrointestinal tract was proposed.
Laboratory tests confirmed hemoglobin concentration at 57 g/l and 18.4% hematocrit. Emergency gastroscopy found active bleeding from gastroduodenal ulcerations.
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pmc-6396040-1
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A 30-year-old male with history of repaired hypospadias and anal atresia was referred for magnetic resonance imaging (MRI) of the pelvis (consisting of T1-weighted, T2-weighted and dynamic contrast-enhanced [DCE] images) because of ongoing chronic prostatitis-like complaints for three months. MRI revealed a large thick-walled cystic lesion in the midline between the prostate and the (deformed) sacrum, communicating with the prostatic urethra at the level of the verumontanum via a thin neck (Figure ). Neither T2w nor DCE images showed signs of prostatitis. The diagnosis of a giant utricle cyst with chronic superinfection was proposed. Urethroscopy confirmed the connection between the cystic lesion and the verumontanum. The aspirated fluid was turbid, suggesting chronic infection. Robot-assisted surgical marsupialization of the cyst was performed, with deroofing of the cyst wall as well as closure of the communication between the neck of the cyst and the verumontanum. The procedure was complicated with pelvic abscess formation and perforation of the bladder wall in the following days. The complications were managed conservatively, and control cystography performed one month later showed closure of the bladder defect.
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pmc-6396444-1
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We present the case of a 26-year-old male who is referred to the digestive consultation by two episodes of spontaneous paraesophageal abscess in an interval of 2 years.
It is a patient with no pathological history of interest that is presented in the Emergency Service for dysphagia for solids of 3 days of evolution that at the same time was suffering stabbing chest pain and fever of up to 38.8 °C in the last 24 h. In the last year the patient had already been in the Emergency Room (ER) twice for chest pain with non-altered complementary tests. The patient denies having any traumatic history or onset of symptomatology after food impaction. The physical examination shows no abnormality on a hemodynamically stable patient. It is performed a blood test showed a C reactive protein (CRP) 190 mg/L (Normal values 0–5 mg/L), and white blood cells 12,000/μL (Normal values 4000–10,000). For that reason it is decided to perform thoracic-abdominal computed tomography (CT), where a collection of 8 × 4 × 5 cm is displayed in the third inferior–posterior of the esophagus compatible with hematoma vs mediastinal abscess (Fig. ).
The surgery service is contacted and it is decided to choose the conservative treatment with broad-spectrum antibiotics and absolute diet. During the admission, a echocardiogram with normal results was performed, an esophagogram that does not present alterations and a gastroscopy, where a linear ulcer of 5 mm in distal third of esophagus with biopsy that shows granulation tissue was found.
The patient is discharged 7 days after, with the normalization of his analytical and clinical parameters, and showing a correct oral tolerance for later control in consultations.
An outpatient USE is requested 3 weeks later, after being discharged, where no paraesophageal collection is displayed. Gastroscopy was repeated where the esophageal ulcer is not visualized and biopsies are taken from the distal and proximal esophagus. In those biopsies, it is noticed an eosinophilic inflammatory infiltration of 40 eosinophils per field.
The patient does not attend any control, so no treatment is started.
One year later the patient returns to the emergency department with chest pain and dysphagia with same characteristics, and elevation of CRP and white blood cells. Again, a toraco-abdominal CT is performed, objectivizing mediastinal collection in the same location as 1 year before, with a size of 7 × 4 × 4 cm, compatible with abscess, which is retreated in a conservative manner with broad spectrum antibiotics. After 10 days, a CT control confirms resolution of the collection.
Ambulatory gastroscopy is performed with biopsy-taking by objectivizing an eosinophilic inflammatory infiltrate compatible with eosinophilic esophagitis.
The patient denies dysphagia, chest pain, heartburn or any other clinic between episodes of mediastinal abscess.
It starts treatment with proton pump inhibitor in double doses during 8 weeks, persisting the eosinophilic inflammatory infiltrate in the biopsies. It is agreed a diet with the patient where two foods will be removed (milk and wheat), obtaining histological remission, and identifying the milk as the cause of the inflammation.
After 2 years of follow-up, the patient maintains milk and derivatives restriction, and has not shown again any episodes of mediastinal abscess.
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pmc-6396477-1
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A 15-month-old female Filipino infant with congenital type I biliary atresia and without any other anomalies or malformations, who had not undergone Kasai’s surgical procedure for biliary atresia, was referred by a liver center in the Philippines. She weighed 8.1 kg and had a height of 67.3 cm. She had jaundice (total serum bilirubin, 22.2 mg/dL), hypoalbuminemia (serum albumin level, 2.58 g/dL), coagulopathy (prothrombin time > 20 s compared to that of a normal control), ascites, splenomegaly, portal hypertension (portal vein velocity, 3.9–5.6 cm/sec with hepatopetal flow measured by Doppler ultrasound), and repeated bleeding of the varices after three doses of intravascularly administered Histoacryl 1 ampoule mixed with Lipiodol UF 8 mL (Auckland, New Zealand) in the EV (Fig. ). A Doppler ultrasound was used to investigate the portal hemodynamics before EIS. The diameter of the portal vein was 6.1 mm with reversal hepatofugal flow in portal vein velocity. After the first EIS, the portal vein diameter was 4.4 mm without thrombosis. After the third EIS, the end point of EIS was further investigated, and computed tomography angiogram revealed that the intrahepatic portion of the portal vein was not clearly demonstrated. Prominent GV and EV were occluded by EIS (Fig. ). The sclerosing agent was not only present in the EV and GV but also retrogradely occluded the main portal vein, splenic mesenteric junction, and splenic vein, causing an engorged inferior mesenteric vein (Fig. ). The patient underwent total hepatectomy and living donor liver transplantation (LDLT) via a left lateral segment graft (segments 2, 3, and 4 of the middle hepatic vein trunk) and left portal vein graft for the recipient inferior mesenteric vein anastomosis. Portal vein stent placement via segment 4 of the portal vein stump was performed from the inferior mesenteric vein to the umbilical portion of the left portal vein (Fig. ). The patient is still alive and doing well after the LDLT.
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pmc-6396482-1
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A 43-year-old woman was admitted to our hospital with a recurrent fever for more than 8-month and a right forehead wound disunion after the mass excision for more than 6-month. In June 2017, she incidentally found a bean-size lump over the right forehead that was gradually increasing in size. Her symptoms were accompanied with recurrent fever but body temperature was not measured. In August 2017, the patient underwent surgical removal of the mass in a local hospital. The postoperative histopathology of the mass showing fibers and granulation tissue formation, accompanied with a high number of lymphocytes, plasma cells, neutrophils infiltration, and tiny abscess formation. After the operation, the patient had pain and swelling at the wound site along with a discharge of pus. Computed tomography (CT) of the head showed bone loss and destruction at the corresponding place (Fig. a). In September 2017, she underwent a debridement on the infected scalp and destructive bone of the right forehead (Fig. b). The pathology showed acute suppurative osteomyelitis with a high number of inflammatory hyperplasia, pus formation, and massive bone necrosis. The pathology of the right forehead mass revealed bleeding, purulent inflammatory changes, epidermis necrosis, and negative staining with PAS. The patient was impaired wound healing, and the wound oozing. Over the next few days, the patient has high fever which usually persists unremittingly (up to 40 °C), and the patient may continue to have recurrent rigors. Broad-spectrum antibiotics treatment seemed not effective. Then she was admitted to our department in February 2018. The patient reported no significant past medical history, and she denied any exposure to contaminants or suspected water sources.
Physical examination showed low body temperature (35.7 °C), several elliptic ulcers on the right forehead with pus and fibrin exudation (2.0 cm × 1.0 cm). The skin around the lesions was tender, reddish, no sense of fluctuation (Fig. j). There also had bilateral cervical lymphadenopathy (0.7 cm × 0.8 cm). Respiratory sounds and cardiac and abdominal examination were normal.
Laboratory testing revealed a leukocyte count of 17.13 × 109/L with 82.1% of neutrophils, a C-reactive protein concentration of 192.00 mg/L, a procalcitonin of 0.247 ng/ml and a negative result of HIV serology test. CD4+ T cell count was normal and the levels of serum globulins including IgG, IgA, IgM and total IgE were within the normal reference range. Tuberculosis antibody was negative, Hemoglobin 71.40 g/L and serum albumin 25.0 g/L. Other laboratory results were unremarkable. Ultrasonography revealed bilateral cervical, bilateral axillary and bilateral inguinal lymphadenopathy. CT of the chest revealed mild pneumonia, nodular opacity in the left upper lobe, a minimal pleural effusion on the left, and mildly enlarged lymph nodes in the mediastinal and in bilateral axillary (Fig. f, g). CT of the head showed the right frontotemporal soft tissue mildly swelling (Fig. c). The pathology of the cervical lymph node biopsy showed reactive hyperplasia (Fig. o, p). A bone marrow aspiration was done, and the cytology suggested mature neutrophils mostly with reactive changes with the neutrophil alkaline phosphatase (NAP) was 365. Lumbar puncture (LBP) was carried out. We found that the CSF pressure was normal and the spinal fluid examinations showed no abnormality. Skin biopsy on the right forehead was performed on March 13, 2018, and pathological examination of the excisional biopsy specimen found nothing but inflammatory granuloma and suppurative inflammation changes, with PAS and acid-fast staining negative (Fig. s, t). Blood, bone marrow, spinal fluid, wound secretion, skin and soft tissue Specimens cultures were all negative for bacteria, tuberculosis, and fungus. Because Mycobacterium culture technique was limited, the skin tissue which excised on March 13, 2018 was sent to another hospital for mycobacterial culture and antimicrobial susceptibility test. The diagnosis was as follows: 1. Right frontotemporal skin and subcutaneous tissue infection; 2. Infectious fever. She received broad-spectrum antibiotics treatment such as Piperacillin Sodium and Tazobactam Sodium combined with amikacin, linezolid with imipenem, moxifloxacin with teicoplanin and voriconazole, levofloxacin with clindamycin and itraconazole. Concomitantly the patient was treated with strengthening the dressing, increasing circulation, enhancing immunity and other supportive therapy.
However, a new tender and reddish tubercle occurred behind the right ear, then the tubercle enlarged and eventually broke down to form an ulcer (Fig. k, l). On April 3, 2018, debridement and skin grafting were performed on the right frontal ulcer under general anesthesia. Postoperative anti-infective treatment and dressing changing were continued. The temperature gradually decreased but still had a low-grade temperature (the highest daily temperature was around 37.6 °C), and part of the head skin graft survived with residual wound base granulation growth. The patient was discharged from our hospital on April 14, 2018.
On May 30, 2018, the mycobacterial culture and antimicrobial susceptibility test result returned which showed that Nontuberculous mycobacteria growth was noted after 78 days of culture in a Mycobacterium Growth Indicator Tube, sensitive to ethambutol and protionamide, resistant to streptomycin, isoniazid, rifampicin, aminosalicylic acid, levofloxacin, capreomycin, and amikacin. The patient was admitted again on May 31, 2018. The test of Mycobacterium tuberculosis complex DNA of her phlegm liquid was negative. Chest CT scan showed a few infected foci in the right middle lobe, irregular bone destruction of manubrium sternum and the sternal end of the bilateral clavicle, and the bone changes of corpus sternum and cervical vertebra (Fig. h, i). The infection caused by nontuberculous mycobacteria was confirmed, and clarithromycin, ethambutol, protionamide, and amoxicillin clavulanate potassium were prescribed for anti-nontuberculous mycobacteria treatment. There was no abnormality when monitoring blood routine and serum chemistry, and the effusion of wound gradually reduced. The patient was discharged on July 14, 2018, and she was reviewing regularly. We are still treating the patient with anti-nontuberculous mycobacteria regimen above-mentioned and change the dressing regularly.
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pmc-6396484-1
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A 39-year-old apparently healthy woman complained of fever and productive cough, in March, 2017. Her medical history did not reveal any specific illness, including acquired immune deficiency syndrome, collagen disease, and congenital immunodeficiency. She neither smoked nor consumed alcohol. Three days after onset (clinical day 3), she was admitted to a local general hospital, owing to progressive fever, malaise, and anorexia. On admission, her vital signs were as follows: body temperature, 39.2 °C; blood pressure, 106/64 mmHg; pulse, 80 beats/min with a regular rhythm; SpO2, 97% in an air-conditioned room; and respiratory rate, 16 breaths/min. Cyanosis, cardiac murmur, and abnormal breath sounds were absent. The patient’s liver, spleen and lymph nodes were not palpable. Her white blood cell count was 5600/μL, with a shift to the left (81.2% neutrophils). Her aspartate aminotransferase level was 23 IU/L; alanine aminotransferase, 12 IU/L; lactate dehydrogenase, 206 IU/L; and C-reactive protein, 2.4 mg/dL (normal range, 0–0.3 mg/dL). Moreover, the patient’s chest X-ray and chest computed tomography (CT) images revealed subsegmental consolidation in her right lower lobe (Figs. a, f). After admission, administration of ampicillin/sulbactam (ABPC/SBT), at 6 g/day, was initiated under a clinical diagnosis of severe community-acquired pneumonia. Azithromycin (AZM) was also given at 2 g/day p.o. stat on clinical day 3 (Fig. ). Her indirect hemagglutination titer for MP was negative (1:40) on clinical day 4. After admission (clinical day 7), her fever had not subsided, and the pulmonary lesions had extended to the entire right lower lobe as well as to the left lower lobe (Figs. b, g). Thus, bronchoalveolar lavage (BAL) and a transbronchial biopsy of the right lower lobe were performed. These examinations revealed nonspecific inflammation with neutrophil infiltration, but no pathogen was identified on pathological or microbiological examination. Contrary to the extremely rapid progression of the pulmonary lesions, her general condition had not significantly deteriorated, which was not compatible with severe bacterial infection. Owing to the unique clinical presentation, organizing pneumonia was considered. Therefore, treatment with prednisolone (PSL) was initiated at 40 mg/day from clinical day 7, and steroid pulse therapy (methylprednisolone 1 g/day) was given on clinical days 10–12. However, neither her symptoms nor her pulmonary lesion improved (Figs. c, h). Rather, her respiratory failure had worsened significantly, after steroid pulse therapy (clinical day 14), as she required oxygen inhalation at 15 L/min on her motion; therefore, she was transferred to our hospital (Hokkaido University hospital) for further examination and treatment. Considering the existence of lower respiratory tract infection due to any rare pathogens, ABPC/SBT was changed to meropenem (MEPM) on clinical day 14, and levofloxacin (LVFX) and minocycline (MINO) were also initiated concurrently. On admission (clinical day 14), her indirect hemagglutination titer for MP had elevated to 1:2560, which was more than that identified on clinical day 4 at the referring hospital. Moreover, BAL fluid (BALF) examination, which was performed on the day of admission to our hospital, using Ribotest™ Mycoplasma (Asahi Kasei Pharma Corporation, Japan), yielded positive results for the mycoplasma antigen. No other pathogen was identified on microbiological examination of the BALF. Based on these clinical findings, we confirmed our case as severe life-threatening MP pneumonia. Thereafter, we continued empirical antibiotic therapy with LVFX, MINO and MEPM, and corticosteroid therapy with PSL at 40 mg/day. Two days later (clinical day 16), her fever, malaise, and hypoxia had resolved, and her pulmonary lesions had significantly improved (Fig. d). Therefore, we replaced the antibiotics with garenoxacin (GRNX) as monotherapy, at 400 mg/day, and reduced the dosage of PSL from clinical day 18. The patient was discharged on day 24, and administration of GRNX and corticosteroid therapy were continued until clinical day 30 (Fig. ). Subsequently, she had an uneventful recovery with no recurrence of fever or pneumonia.
Due to the rarity of our patient’s clinical course, we performed further molecular identification using DNA extracted from her BALF. DNA of MP was identified by real-time polymerase chain reaction (PCR) with Mp181-F and Mp181-R primer pairs and an Mp181-P probe []. A previously described RFLP analysis of point mutation in domain V of MP 23SrRNA gene [] was used to identify mutations known to confer macrolide resistance (2063, 2064, and 2617 in the MP 23S rRNA gene domain V region). The result of the molecular analysis was positive for A2063G mutation, which was, at that time, a common macrolide-resistant mutant of MP in Japan. Based on these results and the clinical course, we confirmed our case as severe MP pneumonia due to a macrolide-resistant strain.
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pmc-6396525-1
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An 81-year-old Asian man presented to our department complaining of fever since the preceding day. The patient had been under treatment for the previous 3 years for chronic heart failure and chronic renal failure. He did not have a history of malignancy, diabetes mellitus, cytotoxic therapy, or corticosteroid use, and no foreign bodies had been implanted. The patient’s family history was unremarkable. Physical examination revealed a heart rate of 101 beats/min, blood pressure of 87/48 mmHg, respiratory rate of 20 breaths/min, temperature of 37.0 °C, and oxygen saturation of 87% on room air. He had no caries or periodontitis. Results of respiratory, cardiac, and abdominal examinations were unremarkable. Limb examination demonstrated mild edema of both legs. Abdominal computed tomography (CT) showed a low-density mass in the right iliopsoas muscle indicative of an iliopsoas abscess (Fig. ). The patient’s white blood cell count, C-reactive protein (CRP), and procalcitonin levels were 19,400/μl, 13.35 mg/dl, and 3.950 ng/ml, respectively. Serum blood urea nitrogen and creatinine were elevated at 77.2 mg/dl and 3.69 mg/dl, respectively. A CT-guided percutaneous drainage of the psoas abscess was performed, and an indwelling catheter was placed. Gram staining of the drained fluid revealed many neutrophils and Gram-positive streptococci. On the basis of these findings, a presumptive diagnosis of iliopsoas abscess caused by Streptococcus species was made, and treatment with ampicillin/sulbactam (ABPC/SBT) 1.5 g, administered intravenously every 8 h, was initiated. Results of organism cultures of the abscess and blood were positive, and P. micra was identified by using the API ZYM system (Sysmex-bioMérieux Co. Ltd., Tokyo, Japan), with the organism exhibiting susceptibility to penicillin G, ampicillin, clindamycin, and meropenem. By day 7, the patient’s white blood cell count normalized. By day 20, his CRP level was decreased to 0.35 mg/dl. Therefore, the pigtail catheter was removed. The patient died of peritonitis due to colon diverticulum perforation after 5 weeks of treatment. An autopsy revealed no right iliopsoas abscess at the time of death.
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pmc-6396545-1
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A 42-year-old man complained of progressive pain in the left knee region without any limitation in daily activity for 3 months. He visited our institution for initial assessment and underwent radiographic investigation in January 2016. A large radiolucent area caused by osteolytic deconstruction in the epiphyseal part of the left proximal tibia was observed. Computed tomography (CT), magnetic resonance imaging, Tomosynthesis-Shimadzu metal artefact reduction technology (T-SMART), bone scan, and biopsy were then performed to assess the precise diagnosis, safe border of the lesion, condition of the surrounding bone, and lung condition. The lesion was finally diagnosed as Campanacci Grade II GCT with no pulmonary metastasis. No fracture of the subchondral bone was detected on the CT scan.
Before surgery, the pain, knee joint function, percentage of affected area of the subchondral bone, and thickness of the residual subchondral bone layer were precisely evaluated. The pain at rest was evaluated according to the Visual Analog Scale (VAS) in which 0 represents no pain and 10 represents the worst pain imaginable. The range of knee joint motion was also recorded. The percentage of affected area of the subchondral bone was calculated as described by Chen []. The shortest distance from the articular surface to the nearest margin of the tumour on radiographs was defined as the thickness of the residual pre-operative subchondral bone layer. This distance was measured with imaging generated using the 3D-CT scan and Tomosynthesis-Shimadzu metal artefact reduction technology (T-SMART). Considering the poor condition of the retained subchondral bone, implantation using a 3D-printed scaffold structure and supplemental bone graft were performed to prevent further damage on the subchondral bone that could potentially be caused by the friction between the cement and subchondral bone when cement packing and to avoid formation of non-biological and rigid graft-cement interface that occurs after cement packing combined bone grafting. This study was approved and monitored by the local Ethical Committee. The patient was informed about the risks and benefits of the treatment, after which he provided written informed consent.
The implant was fabricated by Chunli Co, Ltd., Tongzhou, Beijing, China. The primary aims when designing the implant were: maintaining the articular surface in the proper position, preventing collapse of the subchondral bone and joint surface, and promoting healing between the subchondral bone and graft. Therefore, the implant needed a porous bearing surface with a great ability of osseointegration and a porous strut providing effective axial support as per the appropriate length. To analyse and evaluate the size and shape of cavity caused by tumorous deconstruction, importing 3D CT scan data into the Mimics V17.0 software (Materialise Corp. Belgium) was initially performed. The possible size and shape of the implant was preliminarily calculated with the Mimics software using the sagittal, coronal, and transverse images obtained via the CT scan. The implant prototype using the initial data was created by Solidworks 2016 (Dassault Systemes, France). To ensure satisfactory fitting in the tumorous cavity of the proximal tibia, the size and shape of the implant was optimized via computer simulation of implantation. Considering the convenience of implantation, the final implant consisted of two parts that could be assembled, including a truncated ellipsoid cone-shaped plate with 10 mm thickness (Fig. ), and a square frustum-shaped strut with 45 mm axial length (Fig. ). To assemble the two parts tightly, a specialized slideway, which can mechanically prevent dropping and slipping of the strut, was created on the bearing plate; the appropriate slider was required to be located on the strut. Three screw holes were designed to thoroughly affix the strut to the unaffected cortex of the proximal tibia. Except for the specialized slideway and slider, the whole implant was designed using a scaffold structure. For fabricating the implant, Electron Beam Melting technology (ARCAM Q10, Sweden) was applied (Fig. ).
The surgery was performed by a senior surgeon (Chongqi Tu). With the patient under general anaesthesia, the GCT of proximal tibia was exposed through a lateral approach. Before intracurettage, mini drill bites were used to minimize the bone loss caused by the drill. To reduce the rate of local recurrence, the invaded soft tissue over the tumour cortex was removed. Then, extensive intracurettage was performed with a high-speed burr and electrocauterization repeatedly to completely remove the tumour. After the curettage was completed, phenol, hydrogen peroxide solution, and distilled water pulse irrigation was used to rinse the cavity. The bone graft obtained from the patient’s iliac bone was placed directly under the residual subchondral bone to provide biomechanical support. Then, a bearing plate with a porous surface was implanted into the cavity just under the graft and the strut was inserted into the cavity through the slideway on the porous plate (Fig. ). After confirming both locations of the plate and strut of the implant, the three screws were fixed to the contralateral side of the proximal tibia cortex to enhance the primary stability of the implant (Fig. ).
Considering insufficient primary stability in the early postoperative period, the patient was allowed non-weight-bearing standing and walking with two crutches 3 weeks after surgery. However, range of motion exercises of the knee were performed from postoperative week 4. Partial weight-bearing with crutches was encouraged from 6 weeks postoperatively, followed by gradual full weight-bearing. The patient was followed up every month for the first 3 months, then every 3 months thereafter. The postoperative pain, range of motion, degenerative changes, thickness of subchondral bone layer, oncology outcomes, and radiographs were assessed at each follow-up visit to verify the outcomes of the 3D-printed implant reconstruction.
The patient was followed up over a duration of 29 months. The preoperative VAS score was 7, which decreased to 0 after the surgery. There was no detectable difference in the range of knee motion, which was satisfactory in the preoperative and postoperative period, with a normal range. Before the surgery, the percentage of the affected subchondral area was 48.2% (Fig. ) and the thickness of the subchondral bone layer was less than 3 mm. However, because of the excellent integration between the graft and retained subchondral bone, the subchondral bone layer was noticeably thicker at the last follow-up, which is 10.9 mm. Furthermore, no degenerative changes were observed during the follow-up period. No fracture or collapse of articular surface was detected. No local recurrence or lung metastasis occurred. Radiography indicated that the implant fitted well with the tibia and no signs of complications, including breakage and displacement, were found (Fig. ).
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pmc-6397453-1
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A 37-year-old woman presented with gradually progressing weakness of the right arm. She had a medical history of asthma only in her childhood and no notable family history. On physical examination, she showed mild paralysis of the right arm. Although she felt palpitation and sweating at times, exophthalmic and enlarged thyroid lobes were not observed. Diffusion-weighted imaging (DWI) showed cortical and subcortical infarcts in the left MCA territory (Additional file : Figure S1), but magnetic resonance angiography (MRA) showed almost-normal cerebral arteries or very mild stenosis of the left ICA (Figs. a, a). The vessel wall seemed thicker in the left ICA than in the right on three-dimensional (3D)-T1WI, but the difference was not clear (Additional file : Figure S2A). Hyperthyroidism [levels of free T3, free T4, and thyroid stimulating hormone (TSH); 10.58 pg/mL, 2.70 ng/dL, and 0.01 μU/mL, respectively], and autoantibodies related to GD [anti-thyroid peroxidase antibody (anti-TPO Ab, 148.0 IU/mL), and TSH receptor antibody (TRAb, 8.3 IU/mL)] were identified (Fig. ). Other laboratory investigations showed unremarkable results except for leukopenia, anti-SS-A antibody (89.5 IU/mL; normal range, < 7.0 IU/mL), anti-SS-B antibody (12.4 IU/mL; normal range, < 7.0 IU/mL) and thrombin-antithrombin complex (TAT, 2.5 ng/mL; normal range, < 0.3 ng/mL). C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were negative. She was diagnosed with GD, but not with Sjogren’s syndrome, based on the normal results of Schirmer’s test and a salivary flow-rate test. Rather than methimazole, she was treated with potassium iodide (150 mg/day) for GD due to leukopenia. MRA excludes over 50% stenosis of intracranial and extracranial cerebral arteries and we could not find any major risks of cardioembolic source of embolism, through electrocardiography, echocardiography, and cardiac rhythm monitoring for over 24 h, so heparin, then warfarin (4 mg/day) were administrated as treatments for stroke as unknown etiology. Mild weakness remained at discharge.
Five months later, she presented with intermittent transient weakness of the right arm and leg. DWI did not show new infarction. Stenosis of the left ICA progressed on MRA (Figs. b, b). Thyrotoxicity was exacerbated (Fig. ). Although argatroban was administered, attacks recurred 5 times. We started intravenous methylprednisolone (IVMP; 1000 mg/day on days 2–6), clopidogrel (300 mg on day 1, and 75 mg/day from day 2), and aspirin (300 mg on day 1, and 100 mg/day from day 2). The attacks subsequently stopped. Catheter angiography showed stenosis of the left ICA from the proximal to distal portion and CBN (Fig. a, b). High intensity lesion on T1 W1 in the distal portion of the left ICA was observed (Additional file : Fig. S2B). MMV associated with GD was diagnosed. She refused any surgery. Methimazole (15 mg/day) was started, but mild thyrotoxicity continued (Fig. ).
We subsequently identified gradual progression in the left ICA and middle cerebral artery (MCA) on MRA (Fig. b-d) and 3D computed tomographic angiography. Finally, we found smooth, circumferential, concentric wall thickening with diffuse gadolinium enhancement of the left ICA from the proximal to distal portion on 3D-T1WI (Fig. a, b). We considered the possibility of vasculitis of medium-to-large vessels and administered prednisolone (PSL; 1 mg/kg/day) and methotrexate (MTX; 4 mg/week). Subsequently, thyroid function normalized (Fig. ).
Six months later, PSL was reduced to 0.1 mg/kg/day, and MTX increased to 14 mg/week. Signal intensity in the left ICA and MCA increased on MRA. Catheter angiography showed development of net-like vessels, and incomplete occlusion of the ICA (Fig. c). By 18 months after recurrence, further improved flow in the left ICA and MCA on MRA was observed (Fig. e), but the vessel wall of the left ICA from the proximal to the distal portion still remained enhanced on CE 3D-T1WI in the same way as the previous one. Two years after recurrence, catheter angiography also showed improved blood flow in the left ACA, MCA and ICA, as well as mild improvement of stenosis of the terminal portion of the left ICA (Fig. d). We evaluated the polymorphism in c.14576 G > A (rs112735431) in the RNF-213 gene, a susceptibility gene for Moyamoya disease, using genomic DNA samples from the patient. Genetic analysis of RNF-213 showed wild type.
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pmc-6397455-1
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Herein we present the case of a 28-year-old man, with a free medical history who presented to the allergology department of our hospital due to progressively worsening over the past 3 months facial oedema and erythema of the upper thorax markedly aggravated by bending forward.
At presentation, the patient demonstrated facial plethora with oedematous eyelids, dilated jugular veins and dilated chest wall collaterals (Fig. , panel a). The rest of his physical examination was unremarkable apart from bradycardia (50 beats per minute). From his laboratory findings at presentation marginally elevated c-reactive protein (CRP: 7.07 mg/l, normal values < 5), d-dimers (0.61 μg/ml), high-sensitivity troponin-T (18 pg/ml) and thyroid stimulating hormone (4.3 mU/l, normal values 0.17–4.05) were notable. The patient’s electrocardiogram revealed a coronary sinus rhythm, while the chest x-ray was unremarkable.
A transthoracic echocardiogram (TTE) depicted a large, non-mobile mass infiltrating the interatrial septum and extending to both atria, mainly to the right atrium (Fig. , panel b). The patient was admitted to the hospital and a transesophageal echocardiogram (TEE) demonstrated an heterogeneous mass infiltrating the interatrial septum, filling almost three quarters of the right atrium, which also occupied and occluding the superior vena cava at its junction with the right atrium (Fig. , panel c). On the following cine magnetic resonance imaging (MRI), with an improved visualization of the mass and its extension, the presence of the cardiac tumor was confirmed, also demonstrating infiltration of the surrounding pericardium, a mild pericardial effusion and obstruction of the superior vena cava by the tumor (Fig. , panel d). Mass extension was also noted in the left atrium causing some grade of ostial stenosis of the right pulmonary veins, while no lymph nodes were noticed (Fig. , panel e). The lesion was seen with heterogeneous high signal by T2-weighted imaging while a strong enhancement of the lesion was revealed during the late gadolinium phase.
A total body contrast-enhanced computed tomography (CT) scan demonstrated a dilated azygos vein (Fig. , panel f) with no extracardiac localizations of the disease. The occlusion of the superior vena cava was also confirmed by venography. A 18-fluorodeoxyglucose positron emission tomography/computed tomography (18-FDG PET/CT) revealed an abnormal hypermetabolic lesion which was confined to the heart, involving the right atrial cavity and the superior vena cava (Fig. , panel g). Further laboratory tests revealed serum levels of lactate dehydrogenase and β2-microglobulin within normal range. Bone marrow biopsy and immunophenotyping did not show abnormalities. The patient was subsequently submitted to an endomyocardial biopsy and the histopathological examination revealed diffuse large B-cell lymphoma (DLBCL, high grade Non-Hodgkin lymphoma, Fig. ).
The patient was started chemotherapy with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (RCHOP). The first cycle drugs doses were divided in 2 with 15 days interval to minimize complications as arrhythmias and tissue rupture according to the literature []. Ten days after his first chemotherapy cycle the patient presented with severe rhythm disorders, pauses of up to 12 s, on the 24-h Holter monitoring accompanied by convulsions and a temporary pacemaker was implanted through the trans-femoral route. The rhythm disorders gradually disappeared as the chemotherapy treatment continued and the pacemaker was removed 10 days later. After four cycles of chemotherapy there was regression of the tumor on TTE, TEE and MRI (Fig. , panel i). However, the superior vena cava remained occluded, possibly due to fibrosis and thrombosis, and collateral vasculature was present. The treatment continued for another 4 cycles and at the end of chemotherapy, the patient underwent another 18-FDG PET/CT, which showed complete tumor remission (Fig. , panel h). Serial echocardiographic studies at 3, 6 and 12 and 15 months after completion of treatment confirmed the absence of relapse, as did a follow-up 18-FDG PET/CT at 15 months.
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pmc-6397472-1
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A 51-year-old Madheshi woman came to our neurology clinic with the chief complaint of sudden decrease in the tone and texture of her voice for the past 15 days. Her voice was very feeble but understandable and she noticed it was better by the time she got up from her bed only to worsen through the day to become nearly inaudible. She had noticed a slight change in her voice texture in the first several days which she had ignored in the beginning as it was not worth bothering about. She had no complaint of choking or coughing or aspiration or any throat discomfort. When asked for any other related and/or unrelated things she noticed in her habits, she complained about having constipation for many years otherwise she was apparently well. She had never visited hospital for any problem and no interventions had been done in the past. She denied smoking tobacco, drinking, or any other recreational drugs abuse. There was no one in her family or her parents’ family with any kind of known chronic disease. Her biological father had controlled hypertension with medication. Her psychosocial history was not significant. She came from a middle income family, and she had retired recently as an accountant for a small company. Her symptom progressively aggravated in later days to the extent that she not able to produce sound properly. It usually waned in the early morning or after enough voice rest only to wax throughout the day.
On physical examination, a systemic examination did not reveal any abnormality. On neurological examination, her muscle power was intact: 15/15 on Medical Research Council (MRC) scale. She had no imbalance and was able to tandem on walking. An examination of her gag reflex and other cranial nerves revealed no abnormal reflexes. Deep tendon reflexes were intact. Her speech articulation was intact and revealed no scanning of speech. Speech production was adequate and non-painful; her tone was non-nasal but the intensity was low and slow. Other neurological examinations also did not reveal any abnormality. Other systemic examinations were also non-significant.
Concerned with her problem, she had visited an ear, nose, and throat (ENT) department for her problem and was screened for possible laryngeal disorder for hypophonia. There was no obvious laryngeal pathology found and the treatment initiated by the ENT department had no satisfying outcome. She visited our neurology clinic. The differential diagnoses considered were Parkinson’s disease (PD) or a bulbar variant of motor neuron disease (MND), and MG. MRI scanning of her brain and screening of her whole spine appeared normal. Laboratory investigations including a hematologic panel, infectious disease screening panel, and myopathy panel involving creatinine kinase and creatine phosphokinase-N-acetyl cysteine (CPK-Nac), were all within normal range. She was suspected to have MG as other diseases were ruled out. A Quantitative Myasthenia Gravis (QMG) test was performed on our patient and her QMG score was 1 (for speech). She was given neostigmine challenge test with intravenously administered injection of 2.5 mg neostigmine and the result was positive after more than 30 minutes. There was significant improvement in her voice quality and she felt her fatigability improved as well. She gained a good quality of speech within an hour. QMG scoring was repeated, and she scored QMG score of 0. The longer duration of the medicine gave us enough time to assess the improvement. The laboratory test for the AchR antibody (AchR ab) is not available in Nepal. We had to send AchR ab to India, and the report received after waiting several weeks was positive. Quantitatively, it was significantly higher, 1.11 nmol/l than the normal range (0.0–0.4 nmol/l). She was later maintained on 60 mg of orally administered pyridostigmine with 12 hourly administrations and subsequently increasing to 6 hourly along with steroids.
Plain and contrast-enhanced computed tomography (CT) scans of her head, neck, and chest were done, and they revealed a mass in the anterior mediastinum: a well-defined, smooth outlined, approximately 4 × 2.5 × 2 cm, soft density nodule showing poor enhancement in the anterior mediastinum in the thymic space with maintained fat plane with the adjacent vessels and structure. Thymoma was suspected and she was sent to the surgical department for further surgical intervention.
She returned to our neurology clinic around 2 months after her first visit to us as a follow-up visit. She had undergone a successful surgery. She was doing well. Prednisolone was already tapered off. She was tapering down pyridostigmine as well, with a maintenance dosage of pyridostigmine 60 mg 12 hourly and planned to put off the medication. Her voice was clear and well maintained and she had no complaint of fatigue. She had no fresh complaint and was doing all her daily and professional activities very well.
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pmc-6397492-1
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A 44 year-old male presented to the emergency department with a 5-day history of fever and malaise. He had recently returned to Ireland (his country of residence for 10 years) from Nigeria (his native country) after visiting friends and relatives, without taking malaria prophylaxis. He had a history of hypertension, for which he took ramipril, amlodipine and bendroflumethiazide throughout the previous year. There was no family history of renal disease. He reported having taken over the counter paracetamol during the 5 days prior to presentation, and a single 400 mg dose of ibuprofen on the day of presentation. Consumption of non-steroidal anti-inflammatory drugs (NSAIDs) beyond the day of presentation was repeatedly denied. He had not taken any other medications commonly associated with AIN such as beta-lactams, fluoroquinolones, sulfonamides or proton pump inhibitors prior to presentation.
On examination, he was euvolaemic, his blood pressure was 169/77 mmHg and he produced 1580 mls of dark urine during the first 24 h. Urinalysis revealed 4+ protein and 3+ blood. He did not have a rash and had no peripheral oedema.
Initial routine blood tests included creatinine 616 µmol/L (baseline 89 µmol/L, 5 months before presentation), haemoglobin 11.2 g/dL, platelet count 70 × 109/L, eosinophil count 0.1 × 109/L, serum albumin 26 g/L, total serum bilirubin 15 μmol/L and lactate dehydrogenase 960 U/L. A blood film was positive for P. falciparum with 0.4% parasitaemia. Initial urine protein–creatinine ratio was 346 mg/mmol (absolute proteinuria = 4448 mg/L).
Tests for HIV, HBV, HCV, ANA and ANCA were all negative. C3 was normal and C4 was low (0.09 g/L). His haptoglobin was low (0.24 g/L) and G6PD enzyme activity was normal. A renal ultrasound described diffusely echogenic kidneys with the right kidney measuring 130 mm and the left kidney measuring 143 mm.
A renal biopsy performed 10 days after presentation demonstrated acute interstitial nephritis with numerous eosinophils, particularly at the cortico-medullary junction (Fig. a). There was an absence of neutrophils or granulomas. Immunofluorescence staining showed no specific pattern of antibody deposition for standard antisera (anti-IgG, anti-IgA, anti-IgM, anti-C3, anti-kappa, anti-lambda, anti-fibrin were all negative). Interstitial fibrosis was minimal. Electron microscopy revealed podocyte foot-process fusion involving the majority of capillaries, and the majority of the surface of affected capillaries, with microvillous transformation of the podocyte cytoplasm (Fig. b).
The patient was treated for severe malaria with intravenous artesunate on day 1, followed by a further 3 days of artesunate and a further 7 days of oral doxycycline. He was also covered empirically with ceftriaxone. Intermittent haemodialysis was started on hospital-day 3, as renal function was not recovering and the patient developed symptoms of uraemia. He received five sessions of intermittent haemodialysis before regaining independent renal function (Fig. ). At 1 year follow up his creatinine had plateaued around 120 µmol/L, with persistent proteinuria (protein:creatinine ratio 172 mg/mmol) after restarting ramipril, amlodipine and bendroflumethiazide.
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pmc-6397748-1
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An 86-year-old Chinese Han man, with a known history of hypertension, heart failure, and chronic kidney disease, was diagnosed as having third-degree atrioventricular block and received a permanent double-chamber pacemaker in the left prepectoral area 15 years ago. Nine years later, the entire system (generator and leads) was removed because of confirmed infection, and a new device was reimplanted in the contralateral area. Unfortunately, he developed skin necrosis around the pacemaker pocket after 1 year and the generator was renewed without leads extraction at another medical center. After this procedure, a focal area at the mid portion of the wound failed to fully heal. He was subsequently admitted several times due to extended skin necrosis with massive purulent secretion and cellulitis around the incision site. His primary physician used multiple courses of antibiotics, local wound care, and debridement. This conservative management was continued for 5 years at another institution. There was ongoing pressure necrosis of the overlying skin which led to the gradual extrusion of his leads.
No social, environmental, family, or employment histories were related to his illness. He was born in China and has been living in Guangzhou for nearly 60 years. There is no hereditary disease in his family. He has a son who is in good health. He was an engineer before he retired 26 years ago. The following orally administered medications were given regularly to control his hypertension, heart failure, and chronic kidney disease in other hospitalizations: benazepril (10 mg once daily), niaoduqing (Chinese herbal medicine) particles (5 g three times daily), furosemide (20 mg once daily), and spironolactone (20 mg once daily). Throughout his periods of infection in other hospitals, his doctors once treated him with intravenously administered levofloxacin (500 mg once daily)/ciprofloxacin (200 mg every 12 hours)/Tazocin (piperacillin-tazobactam; 4.5 g every 8 hours)/latamoxef (2 g twice daily)/ceftriaxone (2 g once daily).
At the time of the new admission to our hospital, he was looking chronically ill. He was febrile with a temperature of 38.0 °C, and felt short of breath (New York Heart Association Functional Classification III). Oxygen saturation was 90–95% on room air. He was hemodynamically stable with a blood pressure of 165/74 mmHg, and heart rate of 63 beats per minute. He has smoked tobacco for more than 50 years and never drinks alcohol. A physical examination revealed adherence of skin to the device with overt erosion and draining sinus could be observed on the right side of his upper chest (Fig. ). We could see pus when squeezing the surgical incision. A cardiovascular examination was unremarkable. No evidence of infective endocarditis was observed. A chest examination showed bilateral basal crepitations. Severe edema was found in his penis, scrotum, and lower extremities. Laboratory test values are summarized in Table . A transthoracic echocardiography (TTE) displayed that his left ventricular ejection fraction was 52%, and the result showed no evidence of vegetation attached to heart valves. Because of poor quality of TTE for diagnosis of infective endocarditis, a transesophageal echocardiography (TEE) was requested. However, our patient refused the examination firmly. Therefore, vegetation associated with device leads and endocardium could not be completely eliminated.
Blood and pocket secretions of our patient were sampled and cultured for aerobic, anaerobic bacteria and fungi respectively. After this procedure, he started receiving an intravenously administered broad-spectrum antibiotic (moxifloxacin 400 mg once daily). Simultaneously, the wound was irrigated thoroughly with chlorhexidine, hydrogen peroxide, and saline every day (Fig. ). On hospital day 7, the result of the blood culture revealed Staphylococcus epidermidis, and Corynebacterium striatum grew in the pus excretion culture. The pus Gram stain demonstrated Gram-positive, non-spore, rod-shaped bacteria, short but straight, which were arranged irregularly. No other strain was found in the Gram stain. The S. epidermidis was highly sensitive to penicillin, gentamicin, tetracycline, erythromycin, linezolid, vancomycin, and tigecycline; the S. epidermidis was moderately sensitive to levofloxacin, ciprofloxacin, and moxifloxacin, but not sensitive to cephalosporins. The C. striatum was highly sensitive to penicillin, cefoxitin, erythromycin, gentamicin, vancomycin, and teicoplanin; the C. striatum was moderately sensitive to clindamycin, but not sensitive to levofloxacin. Two sets of subsequent blood and secretion cultures after antibiotic therapy had confirmed the result. He was diagnosed as having complicated pacemaker pocket infection.
The intravenously administered antibiotic was changed to penicillin (3,200,000 IU every 8 hours) according to the antimicrobial drug susceptibility profile of our patient. Considering that he had severe infection, heart failure, and hypoalbuminemia, we treated him with intravenously administered immunoglobulin (2.5 g once daily), human albumin (10 g once daily), and furosemide (20 mg once daily). At the same time, fosinopril sodium (10 mg once a day), furosemide (20 mg twice daily), and spironolactone (20 mg twice daily) were taken orally to control hypertension and reduce severity of heart failure. Orally administered niaoduqing (Chinese herbal medicine) particles (5 g three times daily) were also taken to improve renal function. After 1 month of conservative treatment, he was afebrile and his heavy breathing had improved.
The Holter monitor and pacemaker program suggested that he was not completely dependent on the pacemaker. Our preferred treatment strategy was for complete removal of both the generator and transvenous pacing leads, and we intended to implant an epicardial pacemaker in our patient if necessary. However, he rejected the treatment strategy, and refused to replace his generator because of economic factors. We had to attempt a novel device-preserving strategy considering our patient’s severe comorbidities. Subsequently, the generator was extracted and immersed in povidone-iodine for sterilization. The lead was disconnected from the generator, capped, and allowed to remain in situ. Because our patient was not completely dependent on the pacemaker, a temporary pacemaker was not used. His heart rate fluctuated from 33 to 68 times per minute after extracting pulse generator. Necrotic tissue was extensively debrided to shorten the time of wound healing. During this time, intravenously administered antibiotics and cardiac monitoring were continued. After 10 days, when blood culture was negative, the sterilized generator was successfully reimplanted in a different position on the same side (Fig. ). The generator remained out of the pocket for 10 days in total. The surgical wound healed rapidly. Seven days after device reimplantation, he was discharged with an extensive list of medications: 10 mg of fosinopril sodium once daily; 20 mg of furosemide once daily; 20 mg of spironolactone once daily; 20 mg of trimetazidine dihydrochloride three times daily; 5 g of niaoduqing (Chinese herbal medicine) particles three times daily; and 150 mg of iron polysaccharide complex capsules once daily. No orally administered antibiotic was used after discharge.
He showed up to his follow-up appointments every month. There was no sign of wound dehiscence (Fig. ) and the pacemaker worked properly during a 6-month follow-up. Clinical markers of infection were normal and recorded (Fig. ). At the time of his last follow-up appointment, he was afebrile with a temperature of 37.2 °C. Oxygen saturation was 100% on room air. His blood pressure was 150/61 mmHg, and heart rate was 52 beats per minute. A physical examination revealed there were surgical scars but no sign of wound dehiscence on the right side of his upper chest. There was still mild edema in lower extremities, but he did not have obvious shortness of breath at rest. A chest examination showed no bilateral basal crepitations. A cardiovascular examination was unremarkable. No heart murmur could be heard. A neurological examination revealed that his functions of sensation and movement were normal, and he was able to carry out daily activities independently. A timeline to show disease progression is shown in Fig. .
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pmc-6398039-1
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A 74-year-old male (MF) was referred to our tertiary centre following two previous endoscopic endonasal sinus operations during the preceding 18 months prior to presentation. This was performed for chronic rhinosinusitis and left frontal mucocoele. His medical history also included significant ptosis, despite previous ophthalmological intervention. At presentation, he suffered from recurrent sinonasal disease with left-sided headache and left fronto-orbital fistula discharge over his medial canthus ().
MF underwent computer tomography of the orbit, sinuses, and skull base (), demonstrating the small A-P diameter of frontal sinus and extensive neo-osteogenesis from chronic frontal sinusitis. An endonasal endoscopic approach would likely be ineffective in this patient. Multidisciplinary discussion led to the option of Riedel's procedure and concurrent excision of fronto-orbital fistula under the same anaesthetic.
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pmc-6398041-1
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A 66-year-old female with a past medical history of hypertension and absent family history of cancer presented to the emergency department with acute abdominal pain due to bowel obstruction in July 2016. Her symptoms had started about a year before when she had periodically noticed a change in bowel movements and an increasing palpable mass in the left abdomen.
An extended right hemicolectomy with ileosigmoid anastomosis due to an obstructing mass on the splenic flexure was urgently performed. During operation, liver and peritoneal lesions were detected and samples were also sent for histological analysis. Pathology report was consistent with poorly differentiated mucinous adenocarcinoma with signet ring cells (), pT4N2bM1, with 14 positive lymph nodes out of the 40 retrieved. The liver and peritoneal lesions were confirmed histologically as metastatic. Genetic testing by Ion Torrent NGS system revealed the BRAF mutation, loss of function mutation of LKB1, and mismatch repair deficiency (dMMR), and at that time, it was felt that these genetic alterations were consistent with a sporadic colon tumour. Immunohistochemistry for PDL1 was not performed, since it does not have predictive value in dMMR tumours. CT of the chest/abdomen and pelvis (CAP) showed multiple enlarged abdominal lymph nodes, at least seven liver lesions (), metastasis to the left adrenal gland, multiple peritoneal metastases, and a block of supraclavicular lymph nodes measuring 1.9 cm.
At that time, she had a performance status (PS) 1 and had fully recovered from surgery. After a very thorough discussion about treatment options, the patient was elected to participate in the open-label phase II MINOAS trial (), which is aimed at studying the combination of FOLFIRI regimen plus aflibercept in the 1st line setting in metastatic colorectal cancer. In October 2016, the patient was started on chemotherapy with FOLFIRI consisted of day 1, 5-fluorouracil push (400 mg/m2); day 1 and 2, 5-FU continuous infusion (1200 mg/m2); and day 1 leucovorin (400 mg/m2) and irinotecan (180 mg/m2) combined with aflibercept at a dose of 4 mg/kg repeated every 2 weeks. She had a major clinical benefit; however, she developed grade IV neutropenia which led to 15% dose reduction of 5-FU and CPT regimen. She was evaluated by CT CAP at 3 and 6 months of treatment, which showed partial response (PR), and it was then decided to continue with maintenance therapy of aflibercept biweekly. She remained in maintenance therapy for 2 months; when she started losing weight, she had loss of appetite and abdominal aches. CT CAP revealed progression of disease (PD) () with increasing abdominal lymph nodes and peritoneal metastases by more than 30% (based on RECIST criteria).
On August 2017, based on the fact that she had PD and her disease was MMR deficient, the patient started 2nd line treatment with pembrolizumab at a fix dose of 200 mg every 3 weeks. She had evaluation of her disease with CT CAP every 8 weeks to assess response to treatment. Within the first 4 weeks, the abdominal pain disappeared and she gained weight (12 kg). At week 8, she had achieved a partial response with decreasing liver lesions, abdominal lymph nodes, and peritoneal masses. Her CT scans after 16 weeks showed continuous PR. She has been tolerating immunotherapy well and developed only grade I arthralgia and diarrhea that improved with paracetamol and antidiarrheal drugs. She is still continuing pembrolizumab every 3 weeks and her most recent CT scans from late September 2018 showed further decrease in liver lesions () and supraclavicular lymph nodes measuring 7 mm (1.9 cm at the start of treatment) and decrease by more than 20% in abdominal lymph nodes while peritoneal masses have totally disappeared.
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pmc-6398044-1
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A now 76-year-old male underwent buried PD catheter insertion in 1998 at the Ottawa Hospital. He had membranous glomerulopathy and stage 5 chronic kidney disease (CKD) with an estimated glomerular filtration rate (eGFR) of 13 mL/min/1.73m2. Over the ensuing years, he continued to have subnephrotic proteinuria and was managed with perindopril. The renal function remained relatively stable and only began to decline in late 2017. He consented to initiation of PD in February 2018 after his eGFR dropped to 7 mL/min/1.73m2. A plain radiograph of the abdomen showed the PD catheter optimally positioned in the true pelvis ().
The exteriorization procedure was performed in the Home Dialysis Unit. A 0.5 cm skin incision was made 2 cm distal to the superficial cuff and a loop of the catheter was mobilized and the fibrin was cleared off the catheter. The distal catheter did not glide out easily. With the assistance of a surgeon, a second incision was made over the distal end of the catheter and it was separated from the subcutaneous tissue by dissection and the end of the catheter was cut off (). A large fibrin plug was removed from the lumen of the catheter with push and pull syringe aspiration. The flow remained very sluggish. Tissue plasminogen activator (tPA) was instilled into the catheter and by the following day the inflow significantly improved but outflow was still slow.
Two days later, a cathetergram and guide wire manipulation of the catheter was then arranged through interventional radiology. The initial contrast injection showed the PD catheter localized within a pocket of fibrous tissue communicating with the greater peritoneal cavity along the right pelvic wall. Two angled glide-wires were utilized to clear fibrin out of the lumen of the catheter and a torque cable was then used to flip the draining loop out of the fibrous pocket into the greater peritoneal cavity. Following this, outflow improved and the patient was able to successfully initiate continuous ambulatory PD (CAPD). We have documented a filling time of 6 minutes and drain time of 9 minutes. His clinical course has otherwise been uneventful.
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pmc-6398058-1
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A 74-year-old Japanese woman was referred to our hospital with dyspnea, a palpable mass in the right breast, and an enlarged lymph node in the right axilla that had worsened during the two months before admission. History taking revealed that she had moved from her birthplace in Kumamoto prefecture of southwestern Japan to Nagano prefecture after marriage. She had no other remarkable history of disease, transfusion, medication, or drug abuse.
On presentation, patient's body temperature was 37.2°C with a heart rate of 127 bpm and peripheral artery oxygen saturation of 92% in ambient air. Her vesicular sounds decreased without crackling on chest auscultation. Physical examination revealed a distended abdomen without hepatosplenomegaly. Systemic lymphadenopathy and pretibial edema pitting were noted.
Blood examination () disclosed a lymphocyte count of 680/μL and less than 1% morphological flower cells. Peripheral laboratory tests were as follows: aspartate aminotransferase, 37 U/L; alanine aminotransferase, 6 U/L; lactate dehydrogenase (LDH), 622 U/L; total bilirubin, 1.5 mg/dL; soluble IL-2 receptor, 27,500 U/mL (normal range: 135-421 U/mL); and calcium, 12.9 mg/dL. HTLV-1 antibody was positive. A contrast-enhanced computed tomography (CT) scan of the chest and the abdomen revealed bilateral pleural effusion and ascites with lymphadenopathy (). Bilateral pleural effusion samples appeared chylous () with high triglyceride concentrations () and class III cytology. A biopsy obtained from the right inguinal lymph node showed diffuse infiltration of moderate- to large-sized lymphoid cells with a pleomorphic nucleus and prominent nucleoli () that were CD3+, CD4+, CD5+, CD8-, CD20-, and CD21- on immunohistochemistry (). Two monoclonal bands for HTLV-1 provirus DNA were observed in lymph node specimens by Southern blot hybridization analysis (). Tumor cell infiltration into the bone marrow was negative in an aspiration biopsy. Based on these findings, the patient was diagnosed as having lymphomatous ATL.
The clinical course of the patient is summarized in . High-dose methylprednisolone therapy was deemed ineffective for her chylothorax since continuous pleural effusion drainage of 500 to 1,000 mL/day was necessary. The patient was soon shifted to a reduced-dose LSG15 chemotherapy regimen with prophylactic hydration, rasburicase, and bisphosphonate. After the first course of modified LSG15 (consisting of vincristine, cyclophosphamide, doxorubicin, prednisolone, vindesine, etoposide, ranimustine, and carboplatin) [], she required pleural effusion drainage of less than 200 mL/day. Her systemic lymphadenopathy and pleural effusion disappeared over the two subsequent LSG15 treatment courses as confirmed by CT and normalization of LDH and calcium levels.
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pmc-6398059-1
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A 54-year-old male with IgA nephropathy had a kidney transplant, with chronic graft dysfunction (basal creatinine 2.7 mg/dL) due to biopsy-proven chronic thrombotic microangiopathy, attributed to tacrolimus. He had no previous history of diabetes, toxic habits, or liver disease, and he was HIV negative. Twelve months after transplantation, he was on treatment with everolimus (trough levels 6-8ng/mL) and prednisone 10 mg/24h.
The patient consulted in the emergency department due to an erythematous cutaneous lesion that had appeared 48 hours prior to the consultation, slightly painful. He did not report fever, trauma, or intense exercise. He had preserved general state and vital signs: BP 155/90, HR 85/min, basal SpO2 98%, and temperature of 37°C. Physical examination revealed a diffuse erythematous lesion on his left torso, indurated, and poorly delimited (). Blood analysis showed C-reactive protein 19 mg/dL, creatine-kinase 88 U/L, creatinine 3.5 mg/dL, hemoglobin 104 g/L, leucocytes 4.62·109/L [neutrophils 4.2·109/L, lymphocytes 0.3·109/L], platelets 224·109/L, and prothrombin time 100%. A CT-scan was performed immediately, which showed thickening of left pectoral muscles and trabeculation of adjacent adipose tissue, without collections or gas (). Given the suspicion of an infectious process, empirical treatment was started with ceftazidime and linezolid, and the patient was hospitalized. No microorganisms were isolated in blood cultures. Staphylococcus aureus methicillin-sensitive (MSSA) was isolated in nasal swab. One week later, despite antibiotic treatment, the lesion presented progressive fluctuating consolidation. An MRI was performed then, revealing a pectoral septated collection (59x52x42mm) () and confirming the diagnosis of pyomyositis. No signs of endocarditis as primary process were detected in the echocardiogram. MSSA was isolated in purulent fluid obtained by endoscopic ultrasound fine-needle aspiration. The lesion was surgically debrided and treatment was changed according to the sensitivity of the antibiogram to clindamycin and levofloxacin, for a duration of 4 weeks, achieving complete resolution of the process.
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pmc-6398064-1
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A 65-year-old male with hypertension and atrial fibrillation was admitted to the University of Rochester Medical Center with fever, chest pain, and dyspnea. A CT Chest angiogram revealed bilateral ground-glass opacities with mediastinal lymphadenopathy and no embolic disease. He was admitted to the general medicine service and was treated for community-acquired pneumonia with ceftriaxone and doxycycline. His fevers persisted for the first three days. On hospital day 6 his antimicrobial therapy was broadened to vancomycin, piperacillin-tazobactam, and azithromycin due to worsening hypoxia and was continued for 10 days. He was found to be HIV positive with a RNA level greater than 500,000 copies/ml and a CD4 count of 15. On hospital day 9 he required intubation for worsening hypoxia. He underwent bronchoscopy with bronchoalveolar lavage (BAL) with pneumocystis jiroveci identified on PCR testing and microscopy and CMV was identified on viral cell culture. Sulfamethoxazole/trimethoprim and glucocorticoid therapy was empirically started and he completed 21 days of therapy.
On hospital day 23 he was extubated. Due to increasing lethargy he was reintubated on hospital day 27 for airway protection. After intubation he developed intermittent fevers for 25 days with altered mental status. Vancomycin and piperacillin-tazobactam were restarted. An initial work up for encephalopathy was performed with normal ammonia (18 μmol/L), normal CT head with and without contrast, and negative evaluation for infection including blood, urine, tracheal aspirate, and stool cultures. An electroencephalogram was performed and showed moderate encephalopathy without epileptiform abnormalities. Highly active antiretroviral therapy (HAART) with elvitegravir, cobicistat, emtricitabine, and tenofovir alafenamide was started on hospital day 33 after HIV genotype testing returned. There was concern for drug fever from dexmedetomidine and piperacillin-tazobactam and both drugs were discontinued on hospital day 32 and 37. After no improvement in fevers a MRI of the head with and without contrast was performed on hospital day 37 and showed acute infarcts in the bilateral thalami, right parietal lobe, and right basal ganglia. Neurology felt it was embolic phenomena from atrial fibrillation. He also developed persistent, nonbloody loose stools with negative bacterial and parasite stool studies so serum CMV PCR was checked on hospital day 43 showing 2,623,108 IU/mL. With new nuchal rigidity on exam and right lower extremity weakness a lumbar puncture was performed on hospital day 44 after another head CT was normal. Spinal fluid analysis was consistent with encephalitis and CSF PCR for CMV DNA was positive (). After serum CMV PCR positivity returned ganciclovir was started on hospital day 47. MRI imaging of the cervical, thoracic, and lumbar spine showed extensive linear leptomeningeal enhancement along the lower spinal cord, conus medullaris, and roots of the cauda equine with thickening of the roots concerning for radiculomyelitis (). At this point his mental status remained poor with quadriparesis and flaccid paraplegia. He underwent tracheostomy on hospital day 50.
Serum CMV DNA PCR and HIV RNA PCR were checked weekly to monitor treatment efficacy, and both decreased significantly on treatment (). No further lumbar punctures were performed. He received 30 days of IV ganciclovir 469mg twice daily before decreasing to IV ganciclovir 469mg daily after two consecutive weeks of undetectable serum CMV DNA PCR, hospital day 76. He received IV ganciclovir daily for 85 days total, before switching to oral valganciclovir 900mg daily. The serum HIV RNA PCR continued to decline and was 49 copies/mL on hospital day 128 (96 days after initiation of HAART therapy). He remained on mechanical ventilation and was able to move his upper extremities with assistance and could answer simple questions. He never regained function in his lower extremities. After minimal improvement he opted to stop mechanical ventilation and passed away on hospital day 147.
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