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pmc-6375371-1
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An 11- year-old male child presented with the complaints of repeated vomiting and headache for a period of one month. On examination, the child was found to have right-sided homonymous hemianopia along with papilledema. Magnetic resonance imaging (MRI) revealed a ring enhancing cystic mass lesion with perilesional edema in the left occipito-parietal region. Craniotomy was done with a pre-operative diagnosis of high-grade glioma. Intra-operatively, a thin but vascular cyst containing yellowish fluid was identified with no clear plane between tumour and normal brain tissue. Tumour was excised. Histomorphological examination and immunohistochemistry findings are summarised in .
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pmc-6375371-2
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A 22-year-old male presented with acute onset paraplegia with mean duration of one month. MRI revealed an intramedullary contrast enhancement of mass lesion extending from D8-L1. It was hypointense on T1 and hyperintense on T2 with a cyst at lower pole ( and ). Intra-operatively, a grey, soft and suckable mass was found towards the left. Though no clear tissue plane could be made out, the normal cord tissue appeared thinned out. Histomorphologic examination and immunohistochemistry findings are summarised in , , and .
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pmc-6375371-3
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A 40-year-old female presented with complaints of urinary incontinence and vomiting for one week. On MRI, a well-circumscribed, contrast enhancing, dural-based mass measuring 6x5cm in the left temporal was seen. Craniotomy was done. Intra-operatively the tumour was found to be very vascular. The tumour was completely excised. Histomorphologic examination and immunohistochemistry findings are summarised in .
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pmc-6375371-4
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A 19- year-old male presented with headache and two episodes of generalised tonic clonic seizures over one month. On examination the vitals were found to be stable. He was conscious and oriented. There were no focal neurological deficits. MRI highlighted a cystic lesion with enhancing nodular component measuring 5X5 cm within the right frontal area near the motor cortex. Craniotomy and decompression of lesion were performed. Histomorphologic examination and immunohistochemistry findings are summarised in .
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pmc-6375371-5
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An 18- year-old female presented with repeated vomiting, headache, weakness of right upper limb and slurring of speech. MRI showed a left fronto-parietal mass with midline shift. Fronto-parietal craniotomy and excision of the tumour were done with a pre-operative diagnosis of high grade glioma. Histomorphologic examination and immunohistochemistry findings are summarised in . A diagnosis of anaplastic pleomorphic xanthoastrocytoma was finally made (, and ).
Two years post-operatively, she came back with similar complaints and a repeat mass in the same site was found. Repeat biopsy showed highly cellular tumour with moderate to marked nuclear atypia and pleomorphism, markedly increased mitoses of 1-2 per high power field (HPF), focal microvascular proliferation and necrosis. GFAP was found to be positive along with 40% Ki67 and strong p53 positive in more than 90% of tumour cells. A diagnosis of malignant transformation to glioblastoma in a known case of pleomorphic xanthoastrocytoma with features of anaplasia was made. After one-year follow-up, the patient showed spinal metastasis.
Clinical follow- up
All the patients were on routine follow-up after the standard modalities of treatment for more than one year post-operatively. They were all disease-free except one patient (Case 5) who developed a malignant transformation to glioblastoma (WHO grade IV) with evidence of spinal metastasis after one year post surgery.
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pmc-6375373-1
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A 42-year-old male with mental retardation visited the emergency room due to multiple trauma. The diagnosis of pancytopenia was confirmed by complete blood count test. No intake of medications and previous history of severe bleeding symptom were reported. Consciousness at the time of admission was clear, and there were no local neurological abnormalities on neurological examination. On chest examination, tenderness in the left rib was confirmed, and no specific findings on abdominal examination were observed.
Complete blood count test showed leukocyte 3.51×109/L, neutrophil 0.19×109/L, hemoglobin 8.3 g/dL, hematocrit 25.0%, platelet 4.0×109/L. There were no abnormal cells in peripheral blood (PB) smear. Biochemical analysis showed glucose 173 mg/dL, lactate dehydrogenase 459 ng/mL, total protein 5.5 g/dL, albumin 3.5 g/dL, and total bilirubin 0.41 mg/dL. The following laboratory results were obtained: Alkaline phosphatase 64 IU/L, aspartate transaminase 34 IU/L, alanine transaminase 40 IU/L, blood urea nitrogen 9.4 mg/dL, creatinine 0.93 mg/dL. Blood coagulation test was normal. Anemia profile showed folate 1.65 ng/mL, vitamin B12 294.9 pg/mL, ferritin 189.0 ng/mL, iron 45mg/dL, total iron-binding capacity (TIBC) 233 mg/dL, and transferrin saturation 19%. Antinuclear and antineutrophil cytoplasmic antibody test was negative. There was no clonality on paroxysmal nocturnal hemoglobinuria (PNH) flow cytometry. Hepatitis B and C, human immunodeficiency virus, cytomegalovirus, parvovirus were not detected in PCR, and Epstein–Barr viral immunoglobulin M (IgM) was negative. The beta-glucocerebrosidase activity for Gaucher disease and chromosomal breakage study for Fanconi anemia were normal ().
Brain computed tomography (CT) revealed a mild traumatic intracerebral hemorrhage and maxillary and arch orbital fracture at the time of admission. Chest CT revealed multifocal liver-like opacity with suspected bruising of the lung. During the 2-week of follow-up, the brain CT showed improvement in hemorrhage, while enlarged right axillary lymphadenopathy and spleen enlargement (13.8 cm) were newly identified with contrast attenuation on chest and abdominal CT. To evaluate the cause, the positron emission tomography -computed tomography (PET)–CT at 1 month after admission demonstrated increased fluorodeoxyglucose (FDG) uptake in multiple lymph nodes, bone and spleen ().
A lymph node biopsy was performed in right axilla, but the histologic finding showed only chronic inflammation. The bone marrow (BM) examination revealed hypercellular marrow with increased trilineal hematopoiesis (cellularity: 80–90%), and other significant findings were not found. Chromosomal study showed 46, XY,t(6;9)(q21;q21) in both of PB and BM. But the chromosomal microarray (Affymetrix CytoScan™ 750K Array) revealed a 3.46 Mb microduplication of 5q35.2-q35.3 region including NSD1 ().
Changes in hematologic parameters during the hospital stay are shown in .
The supplement for vitamin B12/folic acid deficiency, intravenous immunoglobulin and continuous platelet transfusions were performed at the time of admission. One week later, granulocyte colony-stimulation factor (G-CSF) and methylprednisolone were administered for six weeks. Neutrophil and platelet counts recovered to 0.61×109/L and 51.0×109/L, respectively on the 20th day of admission. But on the next day, the cytopenia started to deteriorate and on the 24th day, neutrophil and platelets were 0.18×109/L and 1.0×109/L, respectively.
After 43 days of hospitalization, neutrophil and platelets gradually increased, and after a further 5 days, they reached 1.15×109/L and 70.0×109/L, respectively. However, on the next day, cytopenia started to deteriorate again and did not recover until the 70th day. After 3 months of follow-up, chest and abdominal CT showed that enlarged lymphadenopathy disappeared but the spleen remained enlarged. The patient is still under observation in the outpatient clinic with no complications related to pancytopenia.
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pmc-6375378-1
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A 19-year-old male was presented with fever, night sweats, fatigue, nausea, bilateral pretibial pitting (+2) edema, abdominal pain and watery diarrhea for two weeks. Dyspnea and abdominal distention were added to his complaints in the following days. He had no chronic disease history. The physical examination revealed bilateral pulmonary rales accompanied with decreased breath sounds in the lung bases, massive ascites, and mild splenomegaly. In a week time, cervical, axillary, submandibular and inguinal lymphadenopathies were showed up.
Full blood count showed bicytopenia: platelet count 16 × 103/ µl, hemoglobin 8.64 (HCT 26.14), MCV 73.92 fL. White blood cell number and sedimentation rate were within normal range. Acute kidney injury was demonstrated by increased creatinine (2.38 mg/dl) and blood urea nitrogen (75mg/dl). 70 mg of protein in 24-hour urine collection was detected. Serum B12 and Fe levels were both decreased: 75 pg/dl (145-505) and 15mg/dl (50-175), respectively. Other laboratory anomalies were: Albumin 2.70 gr/dl (3.5-5.2), ALP 247 U/L (30-120), CRP 20 gr/L (<0.5), prothrombin time (PTZ) 17.1 sec (11.5-15.5), INR 1.4.
Blood and urine cultures which include bacteria and fungi were studied multiple times because of fever over 38 °C, and all the culture results were negative. Serologic and autoantibody tests for Anti-HIV-1,2, CMV, EBV, HSV, Toxoplasmosis, Rubella, HCV, HBV, HAV, Brucellosis, Salmonella, Syphilis were ordered, and they were all negative. Autoimmune markers which include ANA and ENA panel were all negative. Serum levels of immunoglobulins (IgG, IgA, IgM) were in normal range. IgG4 level was also studied, and it was in normal range [0,12 ug/ml (0,09-0,20)]. In the following days, serum and urine immunofixation tests were also studied because of suspected of POEMS syndrome, and the results were both negative for a monoclonal protein.
His thyroid function tests were compatible with central hypothyroidism: TSH 0.12 µIU/m (0.38-5.53), fT4 0.32 ng/dl (0.61-1.2). Additionally low testosterone level [0.47 ng/ml (1.75-7.8)] and high ACTH level [168 pg/ml (0-45)] were detected. Prolactin, growth hormone, FSH, LH, and cortisol hormone levels were in normal range.
We performed a paracentesis for the diagnostic and therapeutic purpose. It revealed a high serum-ascites albumin gradient (SAAG) (2.7) and high total protein level (2.6 gr/dl) in ascitic fluid. Analysis of ascitic fluid for cytological and microbiological did not show any significant result. Electromyography (EMG) of upper and lower extremity was requested due to arm and leg cramps with numbness, and the findings were normal.
During follow-up, the patient's dyspnea got worse and blood oxygen levels started to fall outside the normal range. A contrast-enhanced computed tomography (CT) was ordered and bilateral parenchymal ground-glass opacities, patchy rounded areas of consolidation and interlobular septal thickening prominent in lower lobe basal segments were detected. Bilateral pleural effusions (5cm on the left, 7cm on the right), multiple enlarged mediastinal and hilar lymph nodes (1 to 2 cm diameter), and a mild splenomegaly were also detected. Similarly, abdominal magnetic resonance imaging (MRI) scan showed multiple lymphadenopathies in paraaortic, mesenteric and inguinal lymph nodes with a mild splenomegaly (). Bilateral tube thoracostomy was performed after platelet transfusion. Pleural fluid was exudative. The gram stain and culture (both aerobic and anaerobic) of the pleural fluid were studied and the results were both negative. Additionally, pleural fluid examination for tuberculosis (TB), including polymerase chain reaction (PCR), auramine–rhodamine (AR)-stain and mycobacterial culture were also applied. No significant results for TB were detected.
A Positron Emission Tomography/Computed Tomography (PET/CT) was ordered with the suspicion of the lymphoma. It revealed multiple lymphadenopathies in cervical, axillary, mediastinal, paraaortic, mesenteric and inguinal lymph nodes. The diameters of the lymph nodes were 11 to 20 mm, and standardized uptake values (SUVs) were from 3.6 to 8.5 ().
A bone marrow aspiration was performed, and it showed hypocellular marrow with the absence of megakaryocytes. Maturation of the myeloid cells was complete, and blasts rate were <%1. Due to the absence of atypical cells in bone marrow aspiration, we didn't perform bone marrow biopsy. Left axillary lymph node dissection was performed. Postoperative microscopical examination showed atretic germinal centers and expanded interfollicular areas containing sheets of plasma cells. LANA-1 staining for HHV-8 was negative ().
The patient was diagnosed with TAFRO syndrome. We chose R-CHOP regimen for the treatment because of the absence of the anti-IL-6 therapies in our country and good steroid response which was experienced during follow-up. This regimen was repeated 2 more times at 21-day intervals. Grade 1-2 cytopenias which did not necessitate hospitalization occurred. The patient had a good response to this therapy, and his clinical, laboratory and radiologic findings were improved. After 1 year of diagnosis, the patient underwent physical examination, laboratory and radiological investigations. The patient was in complete remission in all parameters including metabolic remission on PET/CT (). However, the patient underwent three more cycles of R-CHOP regimen.
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pmc-6375380-1
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A 63-year-old man with three different episodes of renal colic and painful hematuria was referred to our hospital. He had no specific medical history or hormonal symptoms. Physical examination was unremarkable and he had normal vital signs. In paraclinical investigations, ultrasound imaging revealed a mass in upper pole of right kidney. Pheochromocytoma workup was negative. The patient underwent right adrenalectomy. The submitted sample for pathologic study consisted of multiple fragmented irregular tumoral tissues, weighting 95 gram measuring totally 5×4×3 cm.
Microscopic examinations showed two separated areas, one component was composed of nests and sheets of neoplastic large polyhedral cells in a vascularized stroma .The cells had round to oval moderately pleomorphic nuclei, distinct nucleoli and basophilic cytoplasm.
In many areas, tumoral cells were invaded and trapped by the second population of small round tumoral cells with high N/C ratio, vesicular mildly pleomorphic nuclei and thick irregular nuclear membrane. A lot of mitotic figures were identified. Immunohistochemical (IHC) staining signified these cells as positive cells for CD20 and BCL2, and negative for CK, CD3, BCL-6, MUM-1 and CD10 (). Ki67staining showed proliferative activity in about 60% of tumor cells. Histologically, the tumor approximately consisted of 80% typical pheochromocytomas and 20% diffuse large B-cell lymphoma (DLBCL) (). IHC studies in the pheochromocytoma component showed positivity of tumor cells for synaptophysin and chromogranin ().
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pmc-6375731-1
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A 64-years-old female patient was admitted to our clinic with complaints of shortness of breath. On physical examination, body temperature was 36.8°C, pulse was 150 per minute, respiratory rate was 24 per minute, and arterial blood pressure was 140/85 mm Hg. A decrease in respiratory sounds in the right lower zone with auscultation was present. Posteroanterior chest X-ray revealed pleural effusion in the lower right hemithorax (
). Her medical history included congestive heart failure treatment for 5 years, hysterectomy 25 years ago, and chemotherapy due to follicular lymphoma 13 years ago.
Computed tomography (CT) and positron emission tomography/CT (PET-CT) revealed pleural effusion and thickening, with a high maximum standard uptake value of 10.4 in the right hemithorax (
). Thoracentesis was performed with ultrasonography guidance. Biochemical examination of the liquid revealed albumin = 2.1 g/dL (blood: 2.9), total protein = 3 g/dL (blood: 7.1), and LDH = 460 U/L (blood:226), with 33% lymphocytes versus 66% leukocytes. The ARB of the liquid was negative. No endobronchial lesion was detected in fiberoptic bronchoscopy. Sputum and bronchoscopic lavage cultures were also negative. Subsequent to the cytological examination revealing atypical cells with no definite diagnosis, the patient underwent a VATS pleural biopsy. She was discharged on postoperative day 2, uneventfully. Definite pathology was reported as follicular lymphoma (
), and the patient was referred to the Hematology Department for further treatment. The patient only had chemotherapy treatment. No pathology was observed in 17-month follow-ups.
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pmc-6376159-1
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A 69-years-old male patient presented to the hospital due to diffuse abdominal pain for 2 months, which intensified in the last two days, associated with diarrhea, vomiting and weight loss, in addition to sporadic episodes of hematochezia. The patient underwent colonoscopy (), which revealed a vegetative-infiltrative lesion, with irregular contours, hardened consistency, occupying about 75% of the lumen of the colon, located in the hepatic angle, presumably neoplastic. A biopsy was performed, which demonstrated mild nonspecific chronic inflammation in activity, in fragments of colonic mucosa. Computed tomography scan (CT) of the abdomen revealed colo-colonic intussusception, with the descending colon being the intussusceptive element, and the transverse colon being the intussusceptum with collapsed walls (A). At the distal end of the transverse colon there was an oval formation, presenting fat density, corresponding to the head of the intussusception and suggesting lipoma or some of its histological variants (B and C). The patient evolved to intermittent episodes of intestinal semi-obstruction. Although CT suggested that it was a lipoma, the macroscopic aspect of the lesion was suggestive of neoplastic lesion. This, together with the frequent episodes of intestinal semi-obstruction, led to a partial colectomy aiming patient safety. Surgery showed intussusception of the right/transverse colon, associated with a lesion located at the hepatic angle. Intussusception was reduced and a right partial colectomy was performed. The inspection of the specimen () showed a yellowish, pedunculated lesion, measuring about 5.0 cm in diameter. Histopathology examination was compatible with colonic ulcerated submucous lipoma. The patient progressed favorably and had been discharged without complications.
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pmc-6376544-1
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This is the case of a 47-year-old female with medical history only remarkable for hypertension and asthma who first presented in November 2016 with urinary symptoms. She presented with hematuria and urinary frequency and was treated for a urinary tract infections with antibiotics. Subsequently, she continued to have urinary frequency, straining, and complete inability to void. She presented again in January 2017 with hematuria and urinary retention. Urology consult was obtained after staff encountered difficulty inserting a Foley catheter. The catheter was eventually inserted with a lot of resistance. Computed tomography (CT) scan done on the same visit was remarkable for a markedly distended bladder without evidence of obstruction by stone or evidence of hydronephrosis. She was scheduled for a urology clinic visit the following day where she was seen and instructed to remove the Foley catheter the day after. She returned to the emergency department after she removed the Foley catheter as instructed and was unable to urinate for up to 6 hours.
Cystoscopy done during multiple visits and magnetic resonance imaging evaluation eventually revealed the presence of periurethral cysts with a diagnosis of urethral diverticula prompting a urethral diverticulectomy. Biopsy results from samples taken during the diverticulectomy revealed an invasive adenocarcinoma. Follow-up cystoscopy did not show the ostium of the diverticulum but showed a friable mass that was adherent to the vaginal wall. CT scan of the chest, abdomen, and pelvis did not show any disease burden above the diaphragm. She did not have any evidence of bone metastasis during that presentation.
The patient underwent surgical resection of the mass with cystourethrectomy, anterior vaginectomy, total abdominal hysterectomy, bilateral salpingo-oophorectomy, bilateral pelvic lymph node dissection, appendectomy, a continent catheterizable reservoir (Indiana pouch) formation with primary ileocolonic re-anastomosis, and bilateral ureteral catheterization with a post-surgery diagnosis of T4N1MX stage 4 urethral diverticular adenocarcinoma. Margins post-surgery were found to be uninvolved with the adenocarcinoma.
Next-generation sequencing of tissue samples results showed CDKN2A/B loss, MSI-stable, TMB (tumor mutation burden)-low, and variants in the following genes: ATM, BARD1, FAT1, FLT4, KEAP1, MLL3, PIK3, and TAF1. Treatment with platinum-based regimens was decided based on extensive literature review and expert opinion and after genomic sequencing results showed no clear role of targeted therapy. A decision was made to treat her with chemotherapy combining platinum with 5-FU (fluorouracil), which has shown to improve progression-free survival when compared with other combination regimens. The patient has now received 5 cycles of cisplatin, 5-FU with leucovorin, and treatment has been well tolerated with no clinical signs of recurrence.
She continues to be followed by Urology and Oncology. Further need for concurrent radiotherapy was considered; however, the patient eventually refused.
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pmc-6376554-1
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A previously healthy 70-year-old woman came with a history of progressive shortness of breath and intermittent cough for 1 month. She did see her primary care provider for a cough but was evaluated further. She denied recent fever, runny nose, nasal congestion, nausea, vomiting, headache, blurry vision, chest pain, abdominal pain, urinary frequency, urgency, or lower extremity swelling.
Her vital signs on admission were the following: pulse 137 beats/min, respiratory rate 25 breaths/min, blood pressure 109/67 mm Hg, temperature 34.4°F, oxygen saturation on pulse oximeter was 70% on room air, which improved to 80% on the non-rebreather facemask. She had decreased breath sounds on the entire left lung field. She was given albuterol and duoneb nebulization and solumedrol injection. Her arterial blood gas on non-rebreather mask showed pH of 7.14, pCO2 of 61 mm Hg, pO2 of 106 mm Hg, and bicarbonate of 22 mmol/L. She was switched to noninvasive bilevel positive airway pressure ventilation for refractory hypoxia. Laboratory results showed elevated leukocytosis with white blood cell count of 22.8 × 103/uL, hemoglobin of 15.3 gm/dL, and a normal blood chemistry. Respiratory panel was negative. ProBNP was elevated, 1995 pg/mL, but echocardiography showed ejection fraction of 60%, no wall motion abnormalities, and normal diastolic function. Chest X-ray showed streaky opacities at the right lung base with a small right-sided pleural effusion. Computed tomography (CT) of thorax done outside was unremarkable with no evidence of pulmonary embolism or infiltrate. She was given empiric antibiotics for suspected sepsis. Sputum culture showed only the growth of indigenous organisms.
The patient’s respiratory status continued to deteriorate and required intubation. A repeat CT of the thorax showed hyperdense filling defects obstructing the left main bronchus measuring 2.2 cm and in the bronchus intermedius measuring 1.5 cm ( and ). The patient underwent flexible bronchoscopy, which showed fragmented pill in the left mainstem bronchus and in the right bronchus intermedius, which was removed with cryotherapy ().
Pathological evaluation of the specimens revealed particles of polarizable foreign materials (). Her respiratory status improved after the removal of the foreign body, and the patient did well with spontaneous breathing trial on ventilation and was subsequently extubated. She passed swallow evaluation and also got barium swallow studies done, which showed no aspiration. She was discharged home a few days later. Retrospectively when the patient was asked about any history of aspiration, she told that a month back she had a short duration of a cough while swallowing her calcium pill for osteoporosis.
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pmc-6376685-1
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Patient is a 73 year-old right hand dominant female who initially presented to the office complaining of atraumatic right shoulder pain with activity and limited range of motion of longstanding duration. On physical exam, she was found to have significantly limited active range of motion of the right shoulder and clinical signs of impingement. Radiographs at that time demonstrated superior escape of the humeral head with impingement of the greater tuberosity on the acromion and early acetabularization of the acromion (Fig. ). MRI findings were consistent with her x-ray and also demonstrated a lack of contiguous supraspinatus or infraspinatus tendon. At this juncture, the patient was diagnosed with rotator cuff arthropathy and elected to proceed with reverse total shoulder arthroplasty.
The patient was brought to the operating room and placed in the beach chair position. An incision was made from just lateral to the coracoid to the medial border of the proximal humeral shaft in line with the axillary fold. Subcutaneous tissue was dissected and the cephalic vein was identified. As the cephalic vein was mobilized and the clavipectoral fascia was incised, a discrete, branching, fascicular nerve was identified lateral and deep to the cephalic vein within the deltopectoral groove (Fig. ). The nerve was further dissected and traced both proximally and distally. Distally, the nerve and all branches were found to be diving into the anterior deltoid muscle. Proximally, it was found to run deep to the conjoined tendon, towards the brachial plexus. The nerve was freed from the deltoid muscle belly, allowing enough excursion to access the glenohumeral joint via a small deltoid window. The remainder of the operation concluded without complication and the wound was closed primarily (Fig. ). The patient was neurovascularly intact post-operatively with intact sensation in the axillary nerve distribution and able to fire her deltoid muscle. She healed without complications. At 4-month follow-up, she was doing well and able to actively abduct and forward flex her right shoulder to approximately 120 degrees (Fig. ).
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pmc-6376770-1
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Patient is a 44 year old Caucasian male who received a living unrelated donor kidney transplant at our institution. The diagnosis on the native kidney biopsy performed 7 years before transplant was membranoproliferative glomerulonephritis (MPGN) with IgG, C3 and kappa restricted deposits and patchy interstitial fibrosis. The patient was followed at an outside institution at the time and no specific therapy was provided for the disease in the native kidney prior to transplantation. The baseline post-perfusion allograft biopsy was unremarkable. The patient was maintained on mycophenolate and everolimus. By two months post-transplant, serum creatinine stabilized to 1.6 to 1.8 mg/dl for a year, and urine protein/creatinine ratio was less than 0.5 g/gram. Six months post-transplant, everolimus was changed to cyclosporine (due to arthralgias) with target levels of 600–1100 ng/ml for months 6 to 10 and thereafter reduced to 400 ng/ml.
Fourteen months post-transplant, he presented with abrupt worsening of graft function, increasing proteinuria (Fig. a, b), active urine sediment and elevated rheumatoid factor (RF 1650 IU/ml), cryoglobulin test negative, requiring a kidney biopsy. Additionally he had IgG kappa monoclonal spike (214 mg/dl), serum free kappa light chains 189 mg/L (normal range 3.3–19.4), free lambda light chains 75 mg/L (normal range 5.7–26.3), kappa:lambda ratio of 2.5 (normal range 0.26 to 1.65), complements C3 126 (normal range 87–200 mg/dl), C4 38 (normal range 18–52 mg/dl).
There were 18 enlarged glomeruli with diffuse endocapillary proliferative glomerulonephritis (Fig. a) with strong (3+) diffuse granular mesangial and capillary wall staining for C4d, IgG and kappa but no lambda (Fig. c, d), and corresponding electron dense immune-type deposits without any organized substructure (Fig. b). IgG subclass staining revealed strong staining for IgG3. Staining for IgG1, IgG2 and IgG4 was weak to negative (Fig. e-h). There was mild patchy interstitial inflammation, scattered tubules contained red blood cell casts. Interstitial fibrosis and tubular atrophy involved less than 20% of the renal cortex. Considering history of “MPGN” with kappa light chain restriction in the deposits in the native kidney, and the similar biopsy findings in the allograft with serum IgG kappa spike, a diagnosis of recurrent PGNMIGD was rendered.
He underwent plasmapheresis (3 sessions over 5 days) due to very high RF with concern for cryoglobulin and then anti-CD-20 Rituximab therapy (1000 mg weekly for 3 weeks), a single dose of IV pooled immune globulin (1 g/kg), steroid pulse and taper (750, 500, and 250 mg solumedrol per day, followed by oral steroid 1 mg/kg- 3 day taper by 5 mg increments), (Fig. ). RF factor dropped to 137 within one week. Urine protein remained high and peaked at 8.7 g at 17 months post-transplant (requiring second biopsy) but decreased to 1 g at month 20. Serum monoclonal IgG kappa level dropped to 15.9 mg/dl. He developed CMV viremia (572 copies/ml), which responded to antiviral therapy.
The endocapillary hypercellularity had largely resolved (Fig.i). No glomerular IgG, kappa, lambda staining was seen on immunofluorescence (Fig. j, k, l). There was still prominent granular capillary wall and mesangial staining for C4d; however on ultrastructural examination, deposits were not seen (Fig. m). Interstitial fibrosis and tubular atrophy were mild, similar to that seen in the previous biopsy. Bone marrow biopsy was hypocellular but negative for lymphoma/myeloma.
Unfortunately, the patient developed recurrent GI bleeding due to arterio-venous malformations and AKI requiring reduction in immunosuppression, and temporary hemodialysis for 2 months, with serum creatinine maintained at 2.7 mg/dl. Renewed proteinuria and rising creatinine were noted, month 27 post-transplant. Donor specific antibody was detected leading to the third biopsy.
The glomeruli showed changes of transplant glomerulopathy (Fig. N) with mild peritubular capillary margination of inflammatory cells and diffuse peritubular capillary C4d staining. Moderate glomerular capillary wall and mesangial C4d staining were also observed. Ultrastructural examination showed subendothelial widening with electron lucent amorphous material and few entrapped non-specific electron densities (Fig. o). Immunofluorescence study showed mild focal smudgy glomerular IgG, IgA, IgM, kappa and lambda staining, representing non-specific trapping as in transplant glomerulopathy, but no discrete granular IgG deposits.
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pmc-6376777-1
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A 45-year-old, right-handed, Asian Hindu woman presented with acute onset dizziness with imbalance and vomiting of 1 day’s duration. She was a known case of hypertension and had a history of complete recovery from a stroke with left hemiparesis 4 years earlier, for which she was put on aspirin 150 mg a day, atorvastatin 10 mg a day, and clonidine 0.1 mg three times a day. She had a non-contributory family history for cardiac and neurological events. She was a housewife, she did not drink alcohol, she did not smoke tobacco, and she belonged to lower economic class; she resided in a rural area, living in a pucca (solid and permanent) house in a clean environment. At the time of admission she was conscious, and oriented to time, place, and person. Her pulse rate was 80/minute, regular, normovolemic, all peripheral pulsations were well felt with no carotid bruits. Her blood pressure was 140/100 mmHg in supine position. She was afebrile. A cranial nerve examination revealed right horizontal gaze and right eye adduction restriction with horizontal nystagmus on abduction of left eye. An absent bilateral corneal reflex and decreased sensation over right half of face along with bilateral lower motor neuron (LMN)-type facial nerve palsy was present. A motor examination revealed left ataxic hemiparesis. An MRI of her brain was done which revealed diffusion restriction and apparent diffusion coefficient (ADC) correlation in the right posterolateral aspect of pons and medulla most likely representing acute non-hemorrhagic infarct with lacunar infarcts suggestive of small vessel ischemia (Fig. ). A magnetic resonance (MR) angiography of her brain showed normal posterior, anterior circulation, and neck vessels (Fig. ). A color Doppler of her neck and echocardiography were normal. Her hemoglobin was 10.3, packed cell volume (PCV) 30.9, mean corpuscular volume (MCV) 90.7, total leukocyte count (TLC) 13,500, erythrocyte sedimentation rate (ESR) 11, and serum homocysteine 13.63. The results of antiphospholipid antibodies (APLA) and antinuclear antibodies (ANA) tests were normal. A peripheral smear showed mild hypochromia with anisocytosis. Serum sodium was 136, potassium 3.72, serum creatinine 0.67, blood urea 20, random blood sugar (RBS) 107, serum thyroid-stimulating hormone (TSH) 1.32, total cholesterol 111, high-density lipoprotein (HDL) 31, low-density lipoprotein (LDL) 66, and triglycerides 67.
She was admitted for 10 days, during this time she underwent treatment as well as physiotherapy. She was put on aspirin 150 mg twice a day, atorvastatin 20 mg a day, and ramipril 5 mg once a day. At the time of discharge, she had a modified Rankin Scale (MRS) of 3 with improvement in her ataxic hemiparesis and persistence of the cranial nerve deficits. During her 6-month follow-up she was able to walk without support but still had difficulty in tandem walk. Her facial asymmetry showed marginal improvement. Her corneal reflexes appeared. No further brain imaging was done.
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pmc-6376781-1
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A 45-year-old female, never smoker and without comorbidity, presented with cough, low grade fever and mild weight loss. There was no haemoptysis. She had no contact with tuberculosis patients but she had travelled to endemic countries in Asia and Africa. There was no history of recurrent infections in the past. She was diagnosed with pneumonia and treated with various courses of antibiotics but without resolution of symptoms. Physical examination revealed decreased breath sounds in the left upper lobe. Chest X-ray revealed a consolidation in the upper left hilum and left upper lobe (Fig. ). CT scan showed a central nodular intraluminal lesion with bronchial thickening and postobstructive pneumonia in the left upper lobe. No other endobronchial lesions or focal intrapulmonary pathology was found. There was no lymphadenopathy and no pericardial or pleural effusion (Fig. a, b). Bronchoscopy showed a well-defined endobronchial tumor in the apicoposterior segment of the left upper lobe. The patient was subsequently referred to our hospital for endobronchial treatment. Rigid bronchoscopy with electrocautery was attempted, but unsuccessful due to the difficult location of the lesion (Fig. ). Subsequent left upper lobe lobectomy was uncomplicated and resulted in a radical resection, pT1bN0R0. The resected lobe showed a perihilar mass with dilation of distal bronchi that were filled with mucinous material. The peripheral lung parenchyma contained multiple ill-defined, white to yellow consolidations (Fig. a, b). Histology and mitotic count was consistent with atypical carcinoid (Fig. a, b, c, d). In the peripheral lung parenchyma, granulomatous inflammation was found (Fig. a). Ziehl-Neelsen staining demonstrated unequivocal acid fast bacilli (Fig. b). PCR for Mycobacterium genus and Mycobacterium tuberculosis (MTB) complex performed on the resection specimen were negative. Three cultures from the surgical specimen were negative for the MTB and NTM. Because tuberculosis could not be ruled out, we advised the referring hospital to start treatment with antituberculous drugs. However, at the referring hospital it was decided not to treat because of the negative PCR and culture. Since then (now 14 months of follow-up) the patient has been well, without signs of infection. CT scan of the chest during follow-up showed no signs of active tuberculosis or recurrence of the carcinoid.
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pmc-6376796-1
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This 62-year-old male presented to an outside institution after an acute episode of aphasia. MR-imaging was performed and revealed an enhancing left temporal mass (maximum enhancing diameter, 2.1 cm, Fig. ). Biopsy of the lesion was histologically consistent with GBM (IDH1R132H negative, 1p/19q intact, MGMT unmethylated, p53 positive and without EGFR amplification). The patient underwent LITT (Energy: 24.42kJ, Pulses: 876, Time: 0:29:07) of the enhancing portion of the GBM via a single treatment track approximately 4 cm in length. The patient was discharged home on post-treatment day 2 at his neurological baseline.
Two weeks after LITT, despite corticosteroid therapy, the patient presented to our institution with complaints of increasing headache and calculation difficulties. MR-imaging revealed tissue necrosis with hemorrhagic material within the LITT treated region and edema surrounding the treatment site. The patient underwent en bloc resection of the enhancing lesion and adjacent tumor-infiltrated brain via a left temporal craniotomy (Fig. ) . Patient headache and calculation difficulties resolved after surgery (discharged post-operative day 2). Post-operative MR-imaging confirmed complete resection of enhancing lesion.
He underwent adjuvant radiation therapy and was treated to a dose of 5945 cGy in 29 fractions with concurrent temozolomide. Subsequent maintenance temozolomide was discontinued after 5 cycles due to persistent pancytopenia.
Interestingly, despite no surgical or medical treatment for the past 4 years, serial MR imaging since surgery has shown no recurrence of his disease.
The gross specimen was 6.5 cm in the anteroposterior and 4.4 cm in the mediolateral dimensions. Histological examination revealed a thermal injury pattern characterized by 3 distinct staining patterns in relation to the different zones of the lesion. . First, a central necrotic zone (Zone 1) devoid of cells was present (Fig. a) in which there was gradual loss of staining and early resorptive changes at the margins. Surrounding the necrotic zone, an active rim (Zone 2) of granulation tissue was present (mean thickness, 1.3 ± 0.3 mm) which included vascular proliferation, lymphocytes and microglia positive for CD68 and CD45, respectively, just beyond the necrotic core and mesenchymal and glial reaction at the margin (Fig. b-c). Immediately beyond the granulation tissue zone, cytologically atypical, GFAP-positive astrocytes were found (Zone 3) (Fig. e). Immunoreactivity in these cells to OLIG2, p53, and Ki67 confirmed their neoplastic nature (Fig. f-h). The majority of these tumor cells showed moderately intense immunoreactivity to p53. IDH1R132H was negative in tumor cells by immunohistochemistry.
Additional immunohistochemical examination of the tissue showed hallmark features previously described in non-human tissue in vivo that has undergone LITT. In the area of viable tumor, there were noted mitoses (Fig. a, Zone 3). Within the transition area of from the necrotic area to the viable tumor zone was a band of granulation tissue, in which a histiocytic reaction with multinucleated giant cells was present. (Fig. b, Zone 2). Axonal ischemic changes such as axonal spheroids were noted (Fig. c, Zones 1 & 2). Moreover, cells with nuclear fragmentation indicating neuronal and cell body injury in response to laser ablation were detected (Fig. c, Zones 1 & 2). Microglial cells were noted in the areas of high degrees of reactive astroglosis (Fig. d, Zone 2). Vascular effects of laser treatment including thrombotic occlusion of vessels were also found. These thrombotic changes were most prominent near the area of laser ablation (Fig. e, Zone 1).
Additionally, genomic analysis revealed the following modifications: EGFR L861Q (kinase domain) and no EGFR amplification, R108K (extracellular domain) activating mutations, PTEN G36R (missense mutation within the PTEN phosphatase domain), CDKN2A/B loss, IDH1 negative, 1p 19q intact with a Ki-67of 25–30%.
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pmc-6377040-1
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A 64-year-old male smoker presented for evaluation of a painful swelling on his tongue, which had been identified 2 months earlier. On extraoral examination, palpable submandibular and superior cervical lymph nodes of the left side were observed. Intraoral examination revealed an extensive, exophytic and pedunculated mass on the ventral tongue, on the left, measuring approximately 6cm in diameter ().
An incisional biopsy was performed considering the presumptive diagnoses of SCC or malignant salivary gland neoplasm. Histopathological analysis showed a proliferation of atypical spindle, polygonal and epithelioid-like cells, arranged in fascicles. Superficially, the specimen revealed a stratified squamous epithelium with extensive discontinuous areas, varying degrees of dysplasia and foci of carcinoma in situ, but with no evident transition to the spindle-cell component ().
Immunohistochemistry revealed tumor cells with strong positivity to vimentin and P53 (Figures 3A and 3B), positivity to alpha-smooth muscle actin (α-SMA) () and focal positivity for epithelial membrane antigen (EMA) and P63. Otherwise, tumor cells were negative for pan-cytokeratin (AE1/AE3), CK7, CD138, CD34, CD56 and S-100 protein. Analysis of Ki-67 expression revealed a positivity index of approximately 40% (). The diagnosis of SpCSCC was established and the patient was referred to a head and neck surgery service, but rejected the proposed treatment, abandoning it in its initial phase.
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pmc-6377042-1
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A 48-year-old male patient with no previous medical history presented to our urology clinic with a penile lesion of 1-month duration. The lesion was a purple-color papule over the glans near the urethral meatus, measuring approximately 1cm. There were no symptoms other than painful erection. No palpable inguinal or iliac lymph nodes were found. No other skin or mucosa lesions were observed during the physical examination. Laboratory tests included normal cell blood count, urine analysis and urine culture. Serologic testing for HIV, hepatitis B virus (HBV), hepatitis C virus (HCV) and treponemal tests were all negative. The lesion was excised, and the histologic examination revealed proliferation and fascicles of spindle cells associated with angiogenesis ( and ). Expression of CD31 and CD34 was detected, and positive HHV-8 nuclear staining was identified, all compatible with KS ( and ). Since the patient had not developed additional lesions, conservative treatment was chosen.
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pmc-6377216-1
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A 26-year-old woman was admitted to our hospital with a three-week history of fever and painful lymphadenopathy. She initially had observed a painful swelling on the right side of her neck. Later, symptoms such as fever, nausea and fatigue were added. Despite the application of antibiotics such as amoxicillin/clavulanate and metronidazole, the swelling in the patient's neck had enlarged gradually. The patient didn't have any comorbidity. She was a married housewife, living with her family in a village around Babol-Mazandaran, Iran. In addition, she had no recent trip and no significant family history.
On the day of admission, she had stable hemodynamics, but further observation showed three separate enlarged lymph nodes on the right side of her neck, without any changes on the skin covering them. The woman was initially treated with clindamycin and naproxen. Anyhow, during two weeks of hospital stay, she had a fever ranging from 38-40 ◦C.
Laboratory studies demonstrated mild anemia (hemoglobin 10.9 gr/dL, normal range 14-18 gr/dL), with normal white blood cell count (6.4/ml, normal range 4.5-11/mL). Inflammatory markers were increased: C-reactive protein (CRP) level peaked at 77mg/l (normal range < 5 mg/l) and erythrocyte sedimentation rate (ESR) reached 42 mm/hour (normal range 0-20 mm/hour). The patient's serum lactate dehydrogenase (LDH) level had also increased to 519 U/L (normal range < 480 U/L). Cultures of blood and urine showed no growth and tuberculin skin test was negative. Serological tests detected evidence of previous Epstein-Barr virus (EBV) infection, but serologic tests for HIV, Hepatitis B and C, toxoplasmosis, venereal disease research laboratory (VDRL), ANA and RF were negative.
Chest radiography and computed tomography (CT) scan of the chest, abdomen and pelvis were unremarkable. Ultrasound (U/S) and CT scan of the neck, revealed multiple lymphadenopathy on both sides of the neck, expanding to the base of the neck and intra parotid. On the right side, lymph nodes in the posterior triangle of the neck, had pathologic morphology, with rim enhancement and hypodense center (central necrosis), up to 18 × 14 mm and on the left side, lymph nodes had a reactive view up to 12 × 5 mm ().
U/S guided core needle biopsy was performed, which revealed an effaced architecture with extensive coagulation necrosis and nuclear karyorrhexis, especially in the paracortical zone (). No plasma cell or neutrophil was present. In an immunohistochemistry assessment, we found CD68-positive histiocytes in necrotic areas admixed with numerous CD3-positive T-cells (). B-cells (CD20+) were also seen in remaining lymphoid follicles (). These findings were compatible with Kikuchi's lymphadenitis.
The patient was managed supportively and with prednisolone. After 3 weeks, she symptomatically improved and was discharged with no follow up.
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pmc-6377218-1
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A 34-year-old man with a 2-year history of peptic ulcer was admitted to the gastrointestinal (GI) ward in a tertiary referral hospital. The patient’s chief complaints were one episode of hematemesis 4 days ago and persistent mild abdominal pain in the epigastric region. The patient was addicted to 2.5 mg methadone per day. Vital signs were in normal ranges. Physical examination was normal and did not demonstrate any tenderness and guarding in the abdomen. Upper GI endoscopy was performed after 12 hours of fasting. A clean base gastric ulcer in the gastric outlet with gastric outlet obstruction pattern and grade A esophagitis were seen in the upper GI endoscopy. The baseline laboratory analysis revealed the following: white blood cell (WBC) Count: 6100/µL (Segment: 60.4%), Hemoglobin: 15.6g/dl; Platelet Count: 176000/µL; LDH: 260 IU/mL and, other lab tests including liver tests, creatinine, and blood urea nitrogen, were within the normal range. Serial laboratory test measurements did not show any out of range changes. Non-contrast abdominal computed tomography (CT) revealed pneumoperitoneum around the stomach and liver (). CT scan with contrast revealed hydro pneumoperitoneum at porta hepatis and aortocaval regions. The consultant surgeon recommended follow up by endoscopy and antibiotic therapy. The patient was treated with high dose pantoprazole, hydration and bowel rest and intravenous ceftriaxone and, metronidazole. During hospitalization, abdominal pain resolved and no abdominal tenderness and guarding developed. Finally, he was discharged in good health with high dose oral pantoprazole, metronidazole and cefixime, and was also advised to refer to the GI clinic after a week. Four-month weekly follow up showed no abdominal symptoms and normal quality of life.
A 52-year-old man with a history of dyspepsia from 6-8 months before with chief complaint of three hematemesis episodes 3 days before was admitted to the GI ward. He had no history of melena, hematochezia, dyspnea, fatigue, syncope and orthostatic dizziness. He had no history of PUD and had not reported taking non-steroidal anti-inflammatory drugs (NSAIDs), PPIs or histamine receptor antagonists. He was not an alcoholic or smoker. He was addicted to opiates. The patient’s familial history was negative. Physical examination on admission revealed stable vital signs and normal abdominal examination. Rectal examination was normal and no visible hemorrhoid was observed. His endoscopy showed scar and ulcer in the duodenal bulb and, duodenal bulb deformity due to a chronic ulcer. Abdominal CT scan revealed a pneumoperitoneum (). Consultant surgeon recommended follow up. The baseline laboratory analysis during admission revealed the following: WBC Count: 7200/µL (Segment: 63.8%); Hemoglobin: 13.0g/dl; Platelet Count: 228000/µL; Creatinine: 1.03mg/dl; ESR: 9 mm/hr; CRP: 40 mg/l. Liver function tests and coagulation panel were within normal limits. During hospitalization, there were no out of rage changes in laboratory findings. He was treated with intravenous ceftriaxone and, metronidazole and also high dose pantoprazole. After 10 days, the patient was discharged from the hospital with oral pantoprazole, metronidazole and cefixime. Five-month weekly follow up showed that during that time there were only a few problems due to the dyspepsia he already had.
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pmc-6377361-1
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A 71-year-old male, transferred from a rural hospital after an emergent small bowel resection, was diagnosed with a floating aortic mass involving the descending thoracic aorta (DTA) (
and
). Idiopathic thoracic aortic thrombosis was considered as the most likely primary diagnosis. The patient underwent replacement of the DTA with full cardiopulmonary bypass under deep hypothermic circulatory arrest. Access was established through a left thoracoabdominal incision with inflow cannulation of the left carotid and left femoral artery and outflow cannulation of the left femoral vein. At time of surgery, the aorta was found to be filled by a gelatinous material (
). The specimen analysis showed a poorly differentiated mucinous tumor, characterized as a high-grade myxoid intimal aortic sarcoma (
and
). The patient had a slow postoperative recovery without cerebrovascular accidents. Nonetheless, within 3 weeks of surgery, he was diagnosed with diffuse metastatic liver disease. This diagnosis and the overall rapid decline in his health conditions precluded any further adjuvant treatment and he was transferred to hospice care.
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pmc-6377363-1
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A 64-year-old male patient presented to his primary care physician complaining of a dry cough and recurrent bouts of bronchitis as well as frequent orthostatic dizziness. At the age of 20 years, he had undergone repair of CO-A through a left thoracotomy using an interposition Dacron graft between the left SCA and the mid thoracic aorta. His chest radiograph raised suspicion of AN of the thoracic aorta. Computed tomographic angiogram then confirmed the presence of two large anastomotic PANs at both ends of the graft (
) as well as an occluded right SCA, stenosis of the left vertebral artery, and bovine origin of the carotid arteries (
).
In view of this complex anatomy, the decision was made to use a hybrid approach to address these findings. In a first stage, a right carotid artery to right SCA bypass was done using a short segment of Goretex graft (
). Next, using single lung ventilation, a right posterolateral thoracotomy was performed and the chest entered through the fifth intercostal space. With the diaphragm retracted inferiorly, the pericardium, posterior to the phrenic nerve, was gently lifted with a long clamp, thus allowing exposure of the distal most portion of the thoracic aorta, medial to the inferior vena cava (IVC). After heparinization, the aorta was partially clamped and a 22 mm Hemashield graft anastomosed in an end-to-side fashion to an appropriate aortotomy using a continuous suture of 5–0 Prolene (
). The graft was then brought posteriorly to the IVC and anteriorly to the right hilum, then anastomosed in an end-to-side similar fashion to the partially occluded ascending aorta through a vertical pericardial opening (
,
).
The immediate postoperative course was uneventful, and 5 days later, the patient was brought to the hybrid operating room for completion angiogram. This confirmed patency of the extra-anatomic graft as well as the presence of a 4 cm proximal left SCA anastomotic PAN with close extension to the left vertebral artery origin, and a 4.5 cm distal anastomotic PAN. EVS of the proximal PAN was done using a 16 × 80 mm covered Medtronic stent deployed across the origin of the left vertebral artery (
).The distal PAN was excluded using a 26 × 100 mm covered Medtronic stent extending from the level of the coarctation to the insertion of the extra-anatomic bypass graft (
). Completion angiogram confirmed patency of the latter and occlusion of the left SCA to thoracic aorta graft as well as of both anastomotic PANs (
). The postoperative course was uneventful and the patient remains asymptomatic 2 years later and will be followed up on a yearly basis.
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pmc-6377617-1
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The patient’s course is outlined in Fig. .
A 58-year-old, previously healthy, white female presented to her primary care provider (PCP) with the desire to remove a right posterior scalp cyst for cosmesis. This non-inflamed, non-draining, painless, 1–2 cm cyst had been present for close to 10 years without change in size or fluctuance. The cyst was initially drained by the PCP, but, when it recurred 6 months later, the PCP excised the cyst and sent the specimen for routine pathology. The initial read of the tissue sample was high-grade invasive carcinoma with squamous features and arising in association with a PTT. Based on the pathology, the PCP referred the patient to a plastic surgeon for a more definitive excision of the lesion and repair of the defect. The lesion was excised with negative margins and pathology read as invasive high-grade squamous cell carcinoma (SCC). Eight months post resection, the lesion recurred locally along with a palpable right posterior cervical lymph node (LN). A positron emission tomography (PET) scan at that time demonstrated hypermetabolic activity in the posterior occiput and in a posterior neck LN. Fine needle aspiration (FNA) of both the primary scalp lesion and LN were completed, and pathology was reported as SCC, similar to the primary lesion.
With a working diagnosis of locally advanced SCC, the patient’s care was referred to a tertiary care center. There, a dermatopathologist re-evaluated the previous biopsy specimens and altered the diagnosis from SCC to MPTT (Fig. ). Subsequently, the patient was referred to a head and neck surgeon for modified radical posterior neck and lymph node dissection. Intraoperative findings uncovered the presence of nodal metastases to the posterior neck with extranodal extension, extensive perineural invasion of the spinal accessory nerve, and jugular venous invasion of the MPTT. After surgery, the case was discussed at a multi-disciplinary tumor board, and a common head and neck cancer protocol of adjuvant chemotherapy (weekly carboplatin plus paclitaxel) with concurrent radiation was recommended. The patient tolerated the adjuvant chemoradiotherapy with expected toxicities including nausea and fatigue.
Fifteen months after her neck dissection (1 year after completing chemoradiotherapy), FNA of a suspicious right paraspinal LN at C5 documented disease recurrence. The patient underwent a revision neck dissection (extending from the sternocleidomastoid, anteriorly, to halfway down the trapezius, posteriorly) with final pathology specimens consistent with metastatic MPTT. A subsequent PET scan demonstrated hypermetabolic activity in a right supraclavicular LN, multiple mediastinal LNs, and in a 0.8 × 1.1 cm right lower lung lobe parenchymal nodule. An endobronchial ultrasound (EBUS) and transbronchial needle aspiration (TBNA) showed involvement of level 4 and 7 mediastinal LN by carcinoma. Molecular profiling of the tissue using a multiplexed PCR assay (SNaPshot) identified a PIK3CA c.G3140A (p.H1047R) mutation. Given the paucity of evidence for this mutation in this cancer, the patient was treated with a standard regimen for metastatic SCC (consisting of docetaxel and cisplatin every three weeks). At the same time, the patient was put on the waitlist for NCT01219699, a phase I study of oral BYL719 (alpelisib, a PI3Kα-selective inhibitor) in adult patients with advanced solid malignancies, whose tumors have an alteration of the PIK3CA gene.
Seven months after completion of her second chemotherapy regimen, the patient was found to have progressive metastatic pulmonary disease on routine computerized tomography (CT) scan (she was asymptomatic at this time). The patient then enrolled in the trial of alpelisib at 450 mg daily. Her only suspected adverse effects related to the study drug were nausea and weight loss. After 3 months of treatment, she demonstrated a partial response per RECIST (Fig. and ). Additionally, an on-treatment research biopsy, obtained 3 months after the start of alpelisib, demonstrated a significant reduction in proliferation as assessed by Ki67 staining (Fig. ).
Four months after starting the study drug, the patient developed a community acquired pneumonia (CAP), and the treatment was suspended. Although the CAP resolved both clinically and radiographically, the patient was started on 2 L/min oxygen due to a persistent cough that was not responsive to therapy. It was unclear if the patient had progressive disease or a drug-related pneumonitis at this time (although this is not a known adverse effect of alpelisib). Two months after stopping alpelisib, a surveillance CT scan demonstrated peritoneal carcinomatosis. Within days of this CT scan, the patient was admitted to the hospital with increased work of breathing requiring 4 L/min oxygen. The patient opted for no aggressive measures and was symptomatically treated until her death a week later.
Prior to her passing, the patient consented to a rapid autopsy, which revealed the suspected cause of death to be widely metastatic MPTT. There were innumerable metastases in the lungs, the largest being 3.0 × 3.0 × 2.2 cm in dimension (Fig. ). Another heavily involved site was the liver, which contained multiple metastases, the largest being 3.5 × 2.5 × 0.6 cm in dimension (Fig. ). The cancer also was found to involve a papillary muscle of the heart, the pericardium, fundus of the stomach, ileum, colon, omentum, right ovary, soft tissues of the neck, both adrenal glands, and the pelvic peritoneum. Interestingly, many of the lesions identified at autopsy were not visualized on the CT scan taken two weeks prior to the patient’s death. Neuropathology demonstrated no evidence of CNS metastases. No microbiological evidence of pneumonia was found in the lungs, and cultures did not grow any causative pathogenic bacteria or fungi.
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pmc-6377685-1
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A 12-year-old boy was hospitalized with complaints of a headache and high fever accompanied by psychosis, delirium, and indistinct consciousness. He was diagnosed with limbic encephalitis, which is an autoimmune disorder characterized by inflammation of the limbic area in the brain. His symptoms became exacerbated, and he required intensive therapies including high-dose steroid and catecholamine administration.
Despite the continuous therapeutic support mentioned above, he abruptly developed hypotension following diarrhea, fever, and abdominal distension on day 41 after admission. Metabolic acidosis (pH 7.34, base excess − 7.0 mmol/L) was confirmed by blood gas analysis, and highly elevated CPK 11800 U/L, AST 461 U/L, ALT 201 U/L, and LDH 1034 U/L values were revealed by a blood chemistry profile. An emergency CT scan revealed pneumatosis intestinalis localized in the ascending colon and rectum coexisting with portal venous gas (Fig. ). While the root of the SMA and the inferior mesenteric arterial (IMA) flow was maintained, the peripheral blood flow was attenuated adjacent to the non-contrast-enhanced ascending colon and rectum.
Although intraabdominal free air was not detected in the CT scan, the massive ascites and progressing peritoneal signs with muscular guarding required an emergency laparotomy for suspected mesenteric ischemia and bowel perforation. Intraoperatively, skip ischemic lesions were observed in the ascending colon close to the hepatic flexure and the rectum without bowel perforation. Although SMA and superior rectal arterial pulsations were present, the marginal perfusion near the two lesions could not be confirmed. The patient was diagnosed with NOMI based on these operative findings and the rapid progression of the symptoms, which are unlike other vascular disorders or necrotizing enterocolitis. The remaining colon, from the transverse to the sigmoid colon, appeared intact. The color of the unaffected intestinal wall was restored, which suggested intestinal viability (Fig. ). We performed a distal ileostomy without bowel resection because a second-look laparotomy after 24 to 48 h was considered.
After returning to the ICU, the patient required resuscitation for cardiac arrest, septicemia, and DIC. The scheduled second-look laparotomy was canceled, and intensive care including hemodiafiltration was continued. However, the gastrointestinal symptoms did not progress during the intensive treatment.
On the 16th and 60th postoperative days, colonoscopies were carried out, and they revealed rectal and ascending colon stenosis with ulceration (Fig. ). The patency was 5 mm in diameter at both strictures. However, normal findings in the transverse colon to the sigmoid colon were observed by colonoscopy.
A lower gastrointestinal series by gastrografin contrast radiography also demonstrated the patency of the two lesions after laparotomy (Fig. a). Based on successful evacuation of the contrast media and intact mucosal findings around the mild stricture, we scheduled ileal stoma closure. For 1 month prior to the closure, approximately 100 ml of bowel contents that had collected in the ostomy pouch were injected into the anal side of the ileostomy to induce efficient bowel movement. We confirmed the continuous expulsion of feces from the anus and the improvement of transient bowel strictures; therefore, the ileal stoma was closed 14 months after the previous laparotomy.
Currently, the patient’s confusional state has prolonged, and he has received enriched liquid nutrition via gastrostomy. The two stenotic lesions are completely resolved, and defecation has been maintained after stoma closure (Fig. b).
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pmc-6377688-1
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A 77-year-old woman with a history of heterochronous bilateral breast cancer complained of dysphagia. At the age of 56, she had undergone a right radical mastectomy for right breast cancer. Histopathological examination revealed invasive ductal carcinoma, pT3N1M0 that was estrogen receptor (ER)- and progesterone receptor (PgR)-positive. The human epidermal growth factor receptor 2 (HER2) status was not assessed at that time. She had taken doxifluridine (5-DFUR) for 2 years and then tamoxifen for 5 years as adjuvant therapy. At the age of 73, a screening mammogram revealed a left breast mass and she was diagnosed with left breast cancer after examination. She underwent a second operation, a left modified radical mastectomy. The histopathological findings revealed a 12-mm apocrine carcinoma of the left breast without lymph node metastasis. The cancer was negative for the expression of ER, PgR, and HER2. The patient was administrated six courses of a combination therapy of cyclophosphamide, methotrexate, and 5- fluorouracil (CMF) as adjuvant therapy. After a 4-year absence, a regularly scheduled check-up revealed pleural effusion on her left side that increased in size at a 6-month re-examination. Pleuorocentesis performed to harvest the pleural effusion revealed pleural dissemination. Considering that the cell block obtained from the pleural effusion was ER-positive, she was diagnosed with a recurrence of her right breast cancer. She had a history of compressed fracture and was under treatment for osteoporosis; therefore, the patient was treated not with an aromatase inhibitor but with high-dose toremifene citrate. After initiation of therapy, she developed dysphagia. An upper gastrointestinal tract endoscopic examination revealed a whole circumferential stenosis 30 cm from her incisors and a 2-cm band unstained by Lugol’s solution. At this point, the lumen was occluded by a toremifene citrate tablet. Transoral endoscopy was unsuccessful; therefore, the tablet was pushed back into the stomach by small diameter endoscopy (Fig. ). Hematoxylin-eosin staining of the biopsy specimen revealed a subepithelial luminal structure and dysplastic cells covered with normal squamous epithelia, and immunostaining was positive for CK7 and negative for CK20 (Fig. ). An esophageal submucosal tumor originating in breast cancer was suspected based on the pathological findings. The specimen was positive for ER and PgR; therefore, the patient received a definitive diagnosis of esophageal metastasis of her right breast cancer 21 years after surgery. Esophagography revealed mid-esophageal stenosis more than 5 cm in length, with a minimal luminal diameter of around 3 mm (Fig. a). Computed tomography (CT) also revealed wall thickening of the mid-esophagus, but there was no swelling of the lymph node around the mediastinal level (Fig. ). After 3 months of high-dose toremifene therapy, the pleural effusion had disappeared on CT (Fig. ), and her dysphagia was improved. Esophagography showed improvement of the esophageal lumen stenosis (Fig. b). High-dose toremifene was effective for 8 months, but the patient complained of dysphagia again and was diagnosed with progressive disease at the esophagus. She received 60 Gy of radiation at the middle esophagus and was administrated fulvestrant instead of high-dose toremifene. Fulvestrant has been effective for 16 months, up to now.
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pmc-6377691-1
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A 31-year-old Asian man who was a schoolmaster presented with lower abdominal pain and was diagnosed with an acute perforation of the sigmoid colon by computed tomography (CT) at an outside hospital (Fig. ). He has neither past medical history nor family history. He was morbidly obese, weighing 150 kg (BMI 50 kg/m2), and laboratory data showed acute renal failure (creatinine 2.59 mg/dL, blood urea nitrogen 26.8 mg/dL) and uncontrolled diabetes (DM) (blood glucose level 345 mg/dL). After initial outside admission into the intensive care unit (ICU), he was transferred to our hospital and consented to undergo emergency surgery.
The patient was placed in the supine position and was induced under general anesthesia (Fig. ). A 12-mm trocar for a 10-mm flexible laparoscope was inserted through the umbilicus using an open technique. Pneumoperitoneum was maintained at 12 mmHg with carbon dioxide. Next, one 12-mm and three 5-mm long trocars were placed under laparoscopic visualization, and the abdominal cavity was explored. We performed LLD and diverting ileostomy as the first-stage surgery. After adhesions of the peritoneum and greater omentum were dissected from the pelvis, purulence was drained from the rectovesical pouch (Fig. a). A large amount of purulence was also drained from the mesentery after exposure of an abscess cavity (Fig. b). After peritoneal lavage using 36 L of saline, no gross fecal contamination was noted. After placement of drainage tubes into the abscess cavity, the right and left subphrenic spaces, the right pararectal fossa, and the rectovesical pouch, we created a diverting loop ileostomy. The operation time was 372 min and blood loss was 240 mL without any major complications during the first operation. He started oral intake from post-operation day (POD) 3. He was transferred to another hospital to receive medical treatment with drainage tube and wound in POD17. The drainage tube was removed in POD33. There were no complications after surgery in all hospitalizations.
One year later, the patient was seen in follow-up after losing approximately 70 kg. He safely and successfully lost his weight by the educational admission to the diabetic tract medicine. Barium enema examination revealed numerous diverticulum of the sigmoid colon. We performed laparoscopic sigmoidectomy in the lithotomy position as the second-stage surgery. After inserting six trocars, the abdominal cavity was explored. The sigmoid colon was densely adherent to the pelvic cavity, and an incisional hernia around the ileostomy was detected without surrounding adhesions. After displacing the small intestine towards the right upper quadrant of the abdomen, a medial to lateral approach for the mesenteric dissection was undertaken. The specimen was extracted from the abdomen through the umbilical incision. An intra-corporeal double stapling technique was used to complete the anastomosis. At the end of the operation, a drain was inserted behind the colonic anastomosis. Pathological examination revealed diverticula with panniculitis of the sigmoid colon (Fig. ). He was discharged 7 days postoperatively after an uneventful hospital course.
Five months after the second-stage surgery, we performed ileostomy closure and incisional hernia repair as the third-stage surgery. He suffered a postoperative ileus, which resolved with conservative treatment. No other postoperative complications occurred.
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pmc-6377774-1
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Patient 1 (P1) was a 1-year-old girl who was born at 38 weeks of gestation. Birth weight was 2720 g (− 1.3 SD), length 41 cm (− 5 SD), and head circumference was 33 cm (− 0.8 SD). During the period of neonatal evaluation, she exhibited multiple malformations, namely arched eyebrows, long eyelashes, long philtrum, orbital hypertelorism, droop eyelid, low-set ears, depressed nasal bridge, anteverted nostrils, high palate, posterior hairline, short neck, small hands with abnormal palmar crease, curved 5th finger and partial webbing between 4th and 5th fingers (Fig. a). And an ultrasound inspection at 32 weeks also revealed intrauterine growth restriction, tricuspid regurgitation and enlarged foramen ovale. At 14 months, her weight was 5000 g (− 5 SD), length 65 cm (− 5 SD), and head circumference was 40 cm (− 4 SD) which showed the patient had serious growth retardation. And the child died at 2 years old. Until that, she could not sit alone, walk alone and speak. Taken together, she received a clinical diagnosis of CdLS.
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pmc-6377774-2
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Patient 3 (P3) was a 9-year-old girl whose weight was 21,000 g, length 110 cm, and head circumference was 51 cm. At the age of 6 years, her weight was 15,000 g (−2SD), length 98 cm (−5SD), and head circumference was 48 cm (−2SD). She was evaluated for severe speech delay, light growth retardation, low anterior hairline, hypoplastic maxilla, heavy and arched eyebrows, synophrys, long eyelashes, iris hypoplasia, strabismus, broad nasal bridge, widely spaced incisors, an atypical smile, persistent fingertip pads, polydactyly of toes, hairy back and forehead and laryngeal cartilage dysplasia (Fig. c). Her great toes, broad terminal phalanges and grimacing smile as characteristics of RSTS seemed support the diagnosis of it. Nevertheless, we did not observe a beaked nose in her profile that can be seen in a majority of patients (Fig. c). Her polydactyly is also rare in RSTS but is common in CdLS. And some features like low anterior hairline, hypoplastic maxilla, heavy and arched eyebrows, synophrys, long eyelashes indeed overlapped with CdLS. The chromosome karyotype and CNV-seq result were normal.
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pmc-6377776-1
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A 50-year-old Japanese man presented to our hospital with a 9-day history of a high fever associated with palpitations and dry cough. He denied a sore throat, cervical pain, dyspnea, and stomachache. He had a 7-year history of Basedow’s disease previously treated with thiamazole, but had discontinued the medication more than one year before the current admission. The patient had chronic mild diarrhea and had lost 20 kg in the preceding 6 months. Additional past medical history included childhood asthma. The only regular medication taken by the patient was the discontinued thiamazole. The patient had smoked 1 pack of cigarettes a day for 30 years, but drank no alcohol. The only sexual contact was with his wife. He denied any sick contacts or recent travel.
On physical examination, the patient appeared anxious and was febrile (temperature, 39.1 °C). His blood pressure was 129/77 mmHg, pulse 131 beats per minute, and respiratory rate 34 breaths per minute with an oxygen saturation of 97% on room air. He was alert and had an exophthalmos. On palpation, the thyroid gland was soft and diffusely enlarged, but non-tender with no skin redness or warmth (Fig. ). His cardiovascular examination revealed tachycardia and the lungs were clear to auscultation. His bowel sounds were hyperactive, but the abdomen was non-tender. Neurological examination yielded completely normal findings and no skin rash was present.
Initial laboratory results showed leukocytosis (11,360 white blood cells (WBC) /μL with neutrophils at 78.6%) and hyperthyroidism with TSH < 0.021 μIU/mL, F-T3 > 30.00 pg/mL, F-T4 at 8.88 ng/mL, and TSH receptor antibody 42.2 IU/L. Other significant laboratory findings were C-reactive protein (CRP) at 5.07 mg/dl, and glycated hemoglobin (HbA1c) at 5.6%. Test results for HBs antigen, HBs antibody, HCV antibody, and HIV antibody were not remarkable. There were normal findings on the urinalysis and chest X-ray findings. Echocardiography showed normal ejection fraction (64%) and no signs of valve vegetation.
After admission, the patient was initially diagnosed with thyroid storm (due to tachycardia, diarrhea, and thyroid hormone levels) and treatment with thiamazole (30 mg/day), hydrocortisone (200 mg/day), and potassium iodide (100 mg/day) was initiated. Due to the high fever and dry cough, he was also treated with ceftriaxone (CTRX) (2 g/day). Sputum and blood cultures were taken to determine the causative agent. After 80 h post admission, Gram-negative bacteria were cultured in two sets of aerobic blood culture bottles. Blood cultures were processed through the BACTEC FX system (Becton Dickinson, Sparks, Maryland). Gram staining of the cultured bacteria showed a spiral and curved shape, which was morphologically compatible with H. cinaedi (Fig. ). This identification was confirmed via matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOFMS). MALDI-TOFMS analysis was performed, using a MALDI Biotyper system (Bruker Daltonics, Bremen, Germany) as previously described []. The pathogen was identified as H. cinaedi with a score of 2.0. The score of ≥2.0 was useful for identification to the species level. The sputum culture yielded no positive findings, including for acid-fast bacteria.
To determine the origin of the infection, we performed a whole-body contrast-enhanced CT scan and found a thyroid nodule in the right lobe (Fig. a). There was no other infection site identified and the size of the spleen was normal. The thyroid gland ultrasound examination showed high speed velocity in the thyroid vessels and a right lobe thyroid nodule that measured approximately 36 × 38 × 28 mm (Fig. ). When the patient was first diagnosed with Basedow’s disease 7 years previously, there was no thyroid cyst present at that time. Fine-needle aspiration biopsy revealed that the thyroid nodule contained a reddish purulent liquid with a total volume of 6 ml (Fig. ). Laboratory examination of the aspirated liquid revealed a total cell count of 40,000/μL with polymorphonuclear leukocytes 14,667/μL, lactate dehydrogenase 16,990 IU/L, protein 3.5 g/dL, pH level of 7.039, and glucose at 31 mg/dl. These findings were compatible with a diagnosis of bacterial abscess. Likely due to CTRX administration upon admission, the Gram staining and culture of the specimens yielded no bacteria including acid-fast bacteria. Hence, we analyzed the liquid via broad-range 16S rRNA gene polymerase chain reaction (PCR). Nucleic acids were extracted from the liquid using a QIAamp DNA Mini Kit (Qiagen, Limburg, Netherlands) as specified by the manufacturer, and fragments of the 16S rRNA gene were PCR-amplified using universal primers. The PCR products were sequenced using an Applied Biosystems 3130xl Genetic Analyzer (Thermo Fisher Scientific, Waltham, MA, USA) with the primers used for PCR amplification. The amplified 16S rRNA sequence had the highest similarity to that of H. cinaedi [1441/1451 (99.31%) base pair matches in BLAST, and 1436/1438 (99.51%) base pair matches in Ez Taxon]. An additional file showed the result of the sequence in more detail [see Additional file ]. The patient was then diagnosed with H. cinaedi bacteremia and thyroid abscess complicated by uncontrolled Basedow’s disease.
After the determination of the causative pathogen, we changed antibiotics from CTRX to amoxicillin (AMPC) at 1.5 g/day. On admission day 4, the patient’s high fever, tachycardia, and diarrhea were improved. The serum levels of CRP and thyroid hormone were also improving. Blood cultures were drawn again on admission day 10 and were then negative. A laryngeal endoscopy was performed to check for any anatomical abnormalities and the findings were normal. The patient was discharged on admission day 24, and continued taking thiamazole (30 mg/day) and AMPC (1.5 g/day).
On follow-up in the outpatient clinic, the patient received both a thyroid echography and contrast-enhanced CT scan several times to ensure the abscess had not relapsed (Fig. b). The AMPC was taken for 6 months in total. There were no subsequent recurrences of thyrotoxic symptoms or infection. After the inflammation and infection were cleared, esophagography detected no anatomic anomalies such as pyriform sinus fistula. Seven months after diagnosis, the patient underwent a total thyroidectomy for the treatment of Basedow’s disease and to prevent recurrence of a thyroid abscess. The histopathology of the removed thyroid showed it was benign and did not have signs of the thyroid abscess. The patient is now taking levothyroxine for the management of hypothyroidism.
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pmc-6377954-1
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A 65-year-old male with a past medical history positive for HIV was referred for ophthalmic consultation for new onset flashes and floaters in the left eye. The patient also reported decreased and blurry vision in the left eye. At the initial time of presentation, the visual acuity test revealed 20/20 in the right eye and 20/50 in the left eye. Optical coherence tomography (OCT) findings were unremarkable (). Fluorescein angiography (FA) revealed focal hyperfluorescence in the right eye and vasculitis in the left eye (). Fundus photography was unremarkable for the right eye but revealed peripheral retinitis, slight disc edema, and 2+ vitritis in the left eye (). The patient's CD4 count was >600 cells/mm3, and viral load was undetectable. At this point, the clinical presentation suggested acute retinal necrosis (ARN), and a sample of anterior fluid was sent to be analyzed for varicella-zoster virus (VZV), herpes simplex virus (HSV), and cytomegalovirus (CMV). The patient was started on prophylactic valacyclovir and requested for follow-up in 2 days.
Forty-eight hours later, the patient's visual acuity had decreased to 20/60 in the left eye, but no changes were noted in the right eye. The remainder of the physical exam was unremarkable, and the patient was again scheduled for follow-up one week later.
The following week, just 8 days after initial presentation, the patient presented with dramatically worsened vision. His acuity was still preserved in the right eye at 20/25 but had decreased to 20/200 in the left eye. The concern grew stronger as the PCR results returned negative for HSV-1, HSV-2, VZV, and CMV. Despite worsened visual acuity on exam, the patient's vitritis and retinitis improved, further complicating the case. Given this clinical picture, the patient was started on 30 mg prednisone daily in addition to the previously prescribed valacyclovir. The patient was then requested for follow-up appointment in 2 weeks.
At the next follow-up visit, 20 days after initial presentation, it was apparent that the patient's ophthalmologic condition was progressively worsening. Visual acuity in the right eye was now decreased to 20/150. In the left eye, the patient could only recognize hand motion. Expectedly, OCT, FA, and fundus views were all limited in the left eye due to worsening of the vitreous debris (). From limited views, physical exam revealed 1+ vitritis in the right eye and 4+ vitritis in the left eye (). FA of the right eye showed retinitis superiorly and inferiorly, which extended into the macula (). Both eyes were affected by posterior uveitis. Despite the worsening condition of the patient, serum testing obtained by the referring infectious disease specialist was all unremarkable. This included a nonreactive RPR screen with reflex titer for syphilis. At this point, it was discussed with the patient that visual prognosis was considered extremely poor. Even with the negative screening results from the referring physician, there was still suspicion for syphilis as the patient was at considerable risk. It is well known that a nonreactive RPR test does not rule out syphilis infection; therefore, it was decided to repeat serologic testing. However, this time, the patient was tested using the alternative serologic screening algorithm for syphilis, which tests directly for treponemal antibodies () [, ].
Follow-up testing with the alternative method was reactive. Additionally, the RPR titer was now high, confirming the diagnosis of syphilis (). The patient was admitted on the same day for treatment with IV penicillin. The patient's vision dramatically improved, and he was discharged the following day on a 14-day course of penicillin. At one-week after treatment, the patient's acuity had progressed to 20/40 with pinhole improvement to 20/30 in the right eye and 20/50 with pinhole improvement to 20/30 in the left eye. A summary of the patient's visual acuity decline and subsequent improvement following treatment are found in . The repeat RPR testing promoted the significance of understanding the available serologic tests for syphilis. Had an antibody test been ordered initially, it likely would have yielded positive results. In addition, if repeat testing was not conducted for RPR, the diagnosis for this patient with extremely poor prognosis would have been delayed, potentially resulting in blindness. The aggressive nature of ocular syphilis is unforgiving, but with a quick and accurate diagnostic tool, simple treatment with IV penicillin yields excellent outcomes ().
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pmc-6377989-1
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A 61-year-old man was admitted with acute painless urethral bleeding associated with lower urinary tract symptoms (LUTS), mainly voiding obstruction. He had past medical history of hypertension (HT) and dyslipidemia. When asked about urological backgrounds, the patient described two episodes of acute strong urethral bleeding 20 years ago. Likewise, he underwent surgical primary suture of bleeding areas when haemangiomas of the glans penis were first diagnosed.
Physical examination confirmed several haemangiomas in the glandular urethra, located at submeatal level. Those were only visible by gently spreading the external urethral meatus (). In addition, we found scrotal haemangiomas and prominent varicose veins in both legs. Digital rectal examination revealed a nonsuspicious medium-sized adenomatous prostate and uroflowmetry showed no value due to a low voiding volume. A short proximal bulbar urethral stricture was diagnosed through a retrograde urethrogram and voiding cystourethrogram (RUG + VCUG). During RUG, contrast extravasation to the peribulbar veins was evident (). Urethroscopy confirmed the stricture ring close to the external urinary sphincter.
After discussion with the patient, an internal urethrotomy under direct vision was the preferred treatment. During this procedure, glans haemangiomas and small haemangiomas in prostatic urethra were identified (), unrelated to urethral stricture area. The latter were only visible after opening the strictured segment, but since they did not cause any further bleeding, conservative management was applied. The urethrotomy did not present any haemorrhagic incident, and the catheter was removed on the fifth day after the procedure without any subsequent complications. Follow-up flowmetry evidenced Qmax=12.9 mL/sec, Qmed=5.3 mL/sec with 180 mL of voided volume.
Considering endoscopic findings, a pelvic MRI was performed, showing a perineal vascular malformation. This was originated in the urethral bulb and continues through 7 cm of spongy tissue, with up to 14 mm in diameter ().
Currently, after almost two years of follow-up, our patient is asymptomatic, with no further episodes of urethral bleeding. In addition, regarding the urethral stricture, our patient is voiding properly presenting adequate uroflowmetry values, with no need for further procedures or dilatations and with a good quality of life.
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pmc-6378019-1
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A 55-year-old African American male with a medical history of chronic nonvalvular atrial fibrillation, chronic coronary artery disease presented to the emergency department of our facility for evaluation of progressively worsening 2-day history of bilateral flanks and intermittent pleuritic chest pain with associated dyspnea, nonproductive cough, and tactile fever.
On presentation, he was in mild distress, normotensive, tachycardic, tachypneic, febrile, and hypoxic (SpO2 88% on room air). Cardiopulmonary exam revealed irregular heart rate, decreased breath sounds, and mild pulmonary rales in the bilateral lower lung bases. Otherwise, the rest of the exam was unremarkable. Initial laboratories revealed neutrophil-predominant leukocytosis, normochromic-normocytic anemia (hemoglobin 10 g/dL) with high reticulocyte index (12%), hyperbilirubinemia (total bilirubin 3 mg/dL and direct bilirubin 0.5 mg/dL), and negative troponin I. Chest radiography (CXR) and contrast-enhanced chest computed tomography (CT) showed no active disease (Figures and ). The patient was admitted to the telemetry unit and managed for presumed diagnosis of community-acquired pneumonia. His condition subsequently worsened, he developed high-grade fever (T102°F), tachyarrhythmia (HR 120°BPM), and hypoxemia (SpO2∼70°s) on 4 liters nasal cannula oxygen with labored respiration necessitating endotracheal intubation and management with pressure-regulated volume control mechanical ventilator. Repeat imaging (CXR and chest CT) revealed extensive bilateral basilar airspace opacities with large evolving bilateral pleural effusions (Figures and ), and arterial blood gas showed hypoxemia with arterial oxygen partial pressure to fractional inspired oxygen ratio (PaO₂ to FIO₂) of 88 mmHg. Hemoglobin electrophoresis revealed 0.0% hemoglobin A, 49.6% hemoglobin S, and 43.8% hemoglobin C. The patient was diagnosed with hemoglobin SC sickle cell disease complicated by acute chest syndrome which evolved into acute respiratory distress syndrome. He underwent urgent exchange transfusion. He was also managed with intravenous normal saline hydration at maintenance rate and broad-spectrum empiric IV antibiotics; his condition remarkably improved after 48 hours. He had an uneventful extubation and was safely discharged home after a total of 14-day hospital stay. Significant improvement was noted on subsequent follow-up visits.
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pmc-6378710-1
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12-year-old male proband, was referred to our center AECS- in Damascus for confirmation of his affected status for β-thalassemia. The parents were non-consanguineous. His history revealed, pallor and anemia. The electropherogram revealed low level of (Hb A1) 36.2%, high level of (Hb F) 62.2% and low level of (Hb A2) 1.6%, for that, δ-globin gene variant was suspected. His father had a classical clinical picture of β-thalassemia trait. His mother had normal indices but with reduced (Hb A2 levels) 1.9%, all hematological data were summarized in Table . The parents had never been transfused, while the proband requires blood transfusion occasionally.
To investigate the high level of Hb F in the proband, the XmnI restriction site at − 158 position of the Gγ-gene was done. Hematological parameters of the parents and proband were obtained with an automated differential cell counter (ABX Micros ES60; HORIBA ABX SAS, Montpellier, France). Capillary Hemoglobin electrophoresis (Hb) analysis were measured using Capillarys 2 system (Sebia, Lisses, France) system.
After obtaining informed consent, genomic DNA was isolated from peripheral blood from the parents and proband using the QIAamp DNA Blood Mini kit (Qiagen, Germany) according to the manufacturer’s instructions. Purified gDNA was run on a 0.8% agarose gel. The quality and quantity of the DNA was determined spectrophotometrically (NanoVue™; GE HealthCare, Freiburg, Germany).
Direct DNA sequencing of the entire human HBB and HBD genes was done on an ABI PRISM 310-DNA Analyzer (Applied Biosystem, Foster City, CA, USA) as previously reported [, ]. The genotyping of HBB gene was determined by polymerase chain reaction (PCR). The suitable primers were used for three exons of β-globin gene including the promoter, first intron, 5’ and 3’ untranslated region (UTR) sequences as previously reported []. For HBD gene, two specific primer sets were designed for Ex 1& 2 and Ex 3 including their flanking regions on the δ-globin gene as previously reported []. Reverse hybridization assay (α-Globin StripAssay® 4–160; ViennaLab Diagnostics Gmb Vienna, Austria) which covers 21 of α-thal mutations was used according to the manufacturer’s instructions. Detection of Xmn-I locus was performed with RFLP-PCR technique with specific primers and restriction enzyme Xmn-I [].
In this case, the blood and physical examination of the proband showed that, and he had anemia and pallor, and he was affected by delta and beta thalassemia. Hematological and molecular data for the family were described in Table . Direct DNA sequencing for β-globin and δ-globin genes shown in Fig. . The father had the β0 Codon 5 [−CT] mutation in heterozygous state, whereas, the mother presented the β+ Hb Knossos codon 27 (G > T) mutation with δ0 codon 59 [−A] mutation both in heterozygous state, thus resulting in a low level of Hb A2 (1.9%) (Fig. ).
The Molecular analysis of the proband showed that, he had inherited the β0 codon 5 [−CT] mutation from his father, and had inherited the β+ Hb Knossos codon 27 (G > T) mutation and the δ0 codon 59 [−A] mutation from his mother, so, a low level of Hb A2 (1.6%) was also observed (Fig. ). On the other hand, the results of the α-thal test in the proband revealed that none of the common deletional forms were present.
The result of PCR/RFLP of the Xmn-I locus at − 158 to the G훾-globin gene indicated that, the homozygosity [TT] genotype in the proband was observed.
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pmc-6378717-1
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A 3-month-old 1.1 kg female domestic short-haired cat presented with a 3-week history of seizure and generalized pain. The cat had been fed on a commercial kitten food. The cat was examined by the referring veterinarian because of its seizures and reluctance to move for 2 weeks before its initial presentation. The cat’s serum biochemistry profile revealed hypocalcemia (total calcium 1.27 mmol/L; reference range 1.97–2.82 mmol/L) and high alkaline phosphatase (835 U/L; reference range 14–192 U/l), aspartate transaminase (70 U/L; reference range 0–32 U/L), total bilirubin (3.4 mg/dL; reference range 0–0.9 mg/dL), and creatine kinase (3470 U/L; reference range 0–394 U/L). Urea and creatinine were within the reference range (Table ). The complete blood count revealed no abnormalities, and the tests results for feline leukemia virus antigen and antibodies against feline immunodeficiency virus were negative. Based on these results, the referring veterinarian suspected that the cause of the seizures was related to hypocalcemia. Therefore, the cat was treated with levetiracetam (20 mg/kg, IV, BID) and calcium gluconate 8.5% (0.5 ml/kg, PO, BID) for 2 weeks, but its clinical condition did not improve.
On initial examination, the cat was lethargic and reluctant to move. Her appetite was good, but defecation appeared to be painful. Her family history, including whether the parents and littermates were alive, was unknown. Serum biochemistry revealed that both the total and ionized calcium levels were low (total calcium 1.55 mmol/L; reference range 2.05–3.02 mmol/L, ionized calcium 0.74 mmol/L; reference range 1.20–1.35 mmol/L). Radiographs showed skeletal demineralization and the presence of abnormally wide growth plates on the long bones (Fig. ). The differential diagnosis for hypocalcemia with skeletal abnormalities includes primary hypoparathyroidism, nutritional secondary hyperparathyroidism, renal secondary hyperparathyroidism, intestinal malabsorption, and VDDR. However, the cat had previously eaten a well-balanced commercial kitten food (Science Diet kitten, Hill’s Colgate Japan) before becoming obviously ill, so nutritional deficiency seemed highly unlikely. The levels of parathyroid hormone (Immulyze intact PTH III, Simens) and 1,25-dihydroxycholecalciferol (1,25(OH)2D RIA Kit FR, Immunodiagnostic Systems) were determined as elements of the differential diagnosis of hypocalcemia. The parathyroid hormone level was high (99.7 pg/ml; reference range 8.0–25.0 pg/ml), but 1,25-dihydroxycholecalciferol (23.1 pg/ml) was low compared with the levels of healthy cats (Table ). The urinalysis revealed a specific gravity of 1.032 and traces of protein. No bacterial growth was detected in the urine culture. Consequently, VDDR was suspected to be the cause of hypocalcemia and skeletal abnormalities in this cat.
On the day after the initial examination, the cat experienced seizures suspected of being hypocalcemic in origin. Slow administration of calcium gluconate 8.5% IV (1 ml/kg) was commenced, and the cat was continuously monitored by ECG, but no arrhythmia was detected. Several calcium gluconate 8.5% (1 ml/kg, IV) treatment stopped the seizures, but neither her total calcium nor her ionized calcium level increased sufficiently. Therefore, the cat was administered 8.5% calcium gluconate (starting dose, 1.0 ml/kg/h) in 0.9% saline solution by continuous rate infusion (CRI) (Table ).
Starting on day 2, the cat received alfacalcidol (Onealfa Tablets) by CRI of 8.5% calcium gluconate. However, she did not respond well to treatment with the standard dose (0.01–0.03 μg/kg, PO, SID) of alfacalcidol so the CRI of 8.5% calcium gluconate was stopped. The final dose of alfacalcidol was very large, and 1 μg/kg, PO, TID was required to maintain the cat’s general condition in the absence of CRI of 8.5% calcium gluconate (Table ). On day 16, the cat was discharged from hospital. Radiographs were taken again 2.5 months after the initial treatment was started. The cat’s bone structure was still abnormal, but showed marked improvement (Fig. ).
The hypocalcemia, low 1,25-dihydroxycholecalciferol, radiographic changes, and poor response to alphacalcidol led us to suspect a genetic abnormality of vitamin D metabolism in this cat. In humans and cats, type 2 VDDR is characterized by high 1,25-dihydroxycholecalciferol levels. In the cat examined in the present study, 1,25-dihydroxycholecalciferol was lower than in healthy cats, and a huge dose of alfacalcidol was required to maintain her serum calcium concentration. Hence, we decided to analyze the gene sequences of CYP2R1 (ENSEMBL Gene ID ENSFCAG00000011383) and CYP27B1 (ENSEMBL Gene ID ENSFCAG00000014701) in healthy control cats (2 intact males and a spayed female, all domestic short-haired cats owned by our veterinary teaching hospital staff) and the affected this cat. The feline CYP2R gene contains five exons encoding an enzyme of 501 amino acids, and the CYP27B1 gene contains nine exons encoding an enzyme of 508 amino acids. We designed primer pairs for polymerase chain reaction (PCR) amplification of the individual exons and the immediate flanking regions of CYP2R1 and CYP27B1. Genomic DNA was extracted from the blood samples with the DNeasy Blood & Tissue Kit (Qiagen). PCR amplification of the fragments was performed with 20 ng of genomic DNA in GoTaq Green Master Mix (Promega), which also contained the primer pair (10 μM each) and water, with 35 cycles of 30 s at 95 °C, 30 s at 55 °C, and 1 min at 72 °C (Table ). The PCR product sizes were verified as correct by agarose gel electrophoresis separation, the products were prepared for sequencing using the FastGene Gel/PCR Extraction Kit (Nippon Genetics), and then sequenced by a commercial DNA sequencing service (Fasmac). The sequences from the healthy cats and the affected cat were compared, and although no abnormalities in the CYP27B1 gene were present in the affected cat, we did identify the CYP2R1 variant in exon 5; c.1380G > G/A and c.1386del in this cat (Fig. ). The variant, where T is deleted at position c.1386, causes a frameshift mutation in the gene, resulting in chain termination at the position encoding amino acid 481 in the full-length 501 amino acid protein (p.Phe462Leufs*20). The partial sequence of CYP2R1 exon 5 in this cat has been available in the DDBJ/EMBL/GenBank databases under the accession number LC424161. We next searched for the structural information for proteins affected by this nonsynonymous mutation using the protein database HOMOCOS (). The amino acid sequences between human and feline CYP2R1 were almost identical (96.7% identity) and all contact sites with vitamin D3 were conserved (Additional file ). Therefore, we referred an already-known crystal structure of human CYP2R1-vitamin D3 complex (pdb ID 3c6g) []. Two contact sites (amino acids 487 and 488) in the CYP2R1-vitamin D3 complex were missing in the sequence from the affected cat (Additional file ), suggesting that the T deletion in exon 5 of CYP2R1 linked with a remarkable loss of CYP2R1 protein function in this cat.
After the CYP2R1 variant was identified, the affected cat was treated with a standard dose of calcitriol (Caldemin; 2.5–3.5 ng/kg, PO, SID), which restored the total and ionized calcium levels to within the reference range. The level of 25-hydroxycholecalciferol at − 80 °C stored serum sample of initial presentation was additionally measured using a commercial ELISA kit (HVD3 ELISA Kit, MyBioSource). The low level of 25-hydroxycholecalciferol (12 nmol/L) compared with the levels of healthy cats (Table ) is likely to type 1B VDDR in humans [–].
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pmc-6378718-1
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A 32-year-old Indo-Aryan man presented to our emergency department with history of frequent vomiting, moderate to severe headache and giddiness for past 5 days. He also developed weakness of the right side of his body along with altered sensorium over last 24 hours prior to presentation. There was also history of one episode of generalized tonic-clonic seizures prior to onset of weakness. His past medical history was not suggestive of any major illness/drug treatment. His family history was non-contributory and he had no addictions. He was afebrile with pulse 86/minute and blood pressure of 126/74 mmHg. On neurological examination, he was drowsy and was responding poorly to verbal commands. He was having hypertonia and grade III power in his right upper limb and lower limb. Deep tendon reflexes were mildly exaggerated and Babinski sign was positive on right side. His chest, abdomen, and cardiovascular system examination were unremarkable. His preliminary blood examination revealed macrocytic anemia with hemoglobin (Hb) of 11.4 g/dl and mean corpuscular volume (MCV) of 110 fl. Peripheral blood film showed macrocytes and macro-ovalocytes with hypersegmented neutrophils. He had low serum cobalamin levels 68 pg/ml (200–600) with normal folate levels. Test for anti-intrinsic factor antibodies was negative and there was no evidence of gastric atrophy on stomach biopsy. Cerebrospinal fluid (CSF) examination was normal along with negative immunological profile: antinuclear antibodies (ANA), antineutrophil cytoplasmic antibodies (ANCA), lupus anticoagulant and antiphospholipid antibodies. A detailed thrombophilic workup showed normal prothrombin time 12.8 seconds (11.4–13.7), activated partial thromboplastin time 32.6 seconds (27.8–41.8), protein C 106% (70–140%), protein S 98% (70–140%), and antithrombin III 88% (80–120%). His fibrinogen levels were normal and assays for factor V Leiden and prothrombin gene mutation were negative. The only abnormality was raised fasting total serum homocysteine levels of 36 μmol/l (5.0–13.9). A non-contrast computed tomography (CT) scan of his head was inconclusive. Magnetic resonance imaging (MRI) of his brain showed mixed signal intensity lesion in right posterior parieto-occipital lobe with areas of hypointensity in T2-weighted images (Figs. and ). T1-weighted axial images at the same levels showed areas of hyperintensity in the above lesion due to hemorrhage (Figs. and ). Magnetic resonance (MR) venography showed no signal in right transverse and sigmoid sinus due to venous thrombosis (Fig. ). A diagnosis of cerebral venous thrombosis due to Hhcy secondary to cobalamin deficiency was made.
He was treated with sodium valproate 20 mg/kg administered intravenously followed by orally administered valproate 20 mg/kg in two divided doses which was gradually escalated on follow-up visits. He was also administered cerebral decongestants, initially mannitol 100 ml 8 hourly for 2 days followed by orally administered glycerol 30 ml 8 hourly for 1 week. In addition, he was administered parenteral cyanocobalamin 1000 μg once daily for 7 days along with low molecular weight heparin. Gradually he regained sensorium, his power improved, and he was discharged on orally administered sodium valproate, warfarin, and methylcobalamin. On subsequent monthly follow-ups, his international normalized ratio (INR) was regularly monitored and maintained between 2.0 and 3.0. He remained seizure free thereafter and was continued on sodium valproate 750 mg twice a day. On neurological examination he showed significant improvement, initially he was walking with support and later he was fully ambulatory on his own. Repeat investigations done at 6 months after stopping anticoagulants showed normal serum cobalamin 364 pg/ml (200–600) and fasting total homocysteine levels 8.4 μmol/l (5.0–13.9). The rest of the thrombophilia profile was within normal limits.
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pmc-6378721-1
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A previously healthy 16-year-old female with no contributing history presented with acute behavioral changes of emotional lability, lethargy, perseveration of speech, and opsoclonus-myoclonus. Initially, she was admitted to a psychiatric unit and received haloperidol and risperidone for agitation. Over the subsequent 4 days, she became less responsive, dysarthric, rigid, and developed fever as high as 103 ° F. In addition, she had a creatine kinase (CK) level of 913 U/L (9–185 U/L), which led to her admission to our pediatric intensive care unit for presumed neuroleptic malignant syndrome (NMS).
Initial physical exam showed a disoriented, confused, rigid adolescent girl with psychomotor slowing and blunted affect. She rapidly decompensated leading to respiratory compromise and urgent intubation. Dantrolene, lorazepam, and IV fluids were administered. Initial work-up showed normal complete blood count, complete metabolic panel, and thyroid panel. Anti-nuclear antibody, anti-double-stranded DNA, SSA, SSB, anti-Smith, ribosomal P antibody, thyroid antibodies, and complement levels were negative or normal; however, anti-ribonuclear protein (anti-RNP) was mildly elevated at 5 AI (normal < 1.0 AI). Serum immunoglobulins (Ig) IgG1 and IgG3 were raised. Cerebrospinal fluid (CSF) analysis revealed mild pleocytosis with 7 white blood cells (91% lymphocytes), normal protein, and mildly elevated oligo-clonal bands (4 bands). CSF meningitis and encephalitis PCR panels were negative for multiple bacterial and viral antigens, including HSV-1, VZV, WNV, and Cryptococcus. Computerized tomography with contrast of the chest, abdomen, and pelvis, as well as a pelvic ultrasound revealed no evidence of tumor. Her brain magnetic resonance imaging (MRI) with/without gadolinium was normal. A 24-h electroencephalogram displayed abnormal background slowing.
Early in her course, the NMS symptoms improved and she was extubated successfully. Observed generalized tonic-clonic seizures led to initiating levetiracetam. CSF results and her behavioral changes at presentation were suspicious for autoimmune encephalitis, therefore 5 days of methylprednisolone (dose 1 g/day) followed by 30 mg Q 12 h and PLEX (one cycle every other day for a total of 5 cycles) were begun empirically. Despite initial treatment, she remained emotionally labile, mute, intermittently agitated, rigid, and restless consistent with catatonia. Her catatonia remained refractory despite trials of lorazepam up to 18 mg/day and zolpidem up to 40 mg/day. On hospital day 9, serum and CSF samples confirmed anti-NMDA receptor autoimmune encephalitis. First-line treatment was intensified with IVIG (70 g every 2 weeks for 5 doses, then monthly for 3 extra doses). A rituximab course (1000 mg biweekly for 2 doses) was started as second-line immunosuppression with a second course of 1 g methylprednisolone daily for 3 days. In spite of these treatments, episodes of agitation, rigidity, sleep disturbance, mutism, facial twitching, drooling, and autonomic instability (heart rate 130–170; blood pressure 132–158/58–102) persisted leading to the diagnosis of malignant catatonia. Her Bush-Francis Catatonia Rating Scale (BFCRS) was 27 (normal is 0). Based on the recommendation of two independent psychiatrists and with family consent, ECT was begun to treat the malignant catatonia. ECT began on day 14 of her hospitalization with bitemporal electrode placement. A total of eight ECT treatments were given thrice weekly. Use of maximal device energies and the addition of flumazenil to reverse BZDs were necessary to achieve adequate seizure durations. Her heart rate and blood pressure improved after the fourth ECT and normalized after the seventh. Over the course of her ECT treatments, her BFCRS improved from 27 to 2 (Fig. ). We also evaluated her mental status using the Clock Drawing Test (CDT) prior to ECT #3, ECT #5, and the day after ECT #8 (Fig. ), showing marked improvement in visuospatial, motoric, and cognitive functioning. The patient’s mother noted after the course of ECT that the patient displayed more of her typical personality and mannerisms. Despite the improvement in physical strength, she continued to be mute at the termination of treatment. She was discharged home on melatonin 10 mg each night, levetiracetam, tapering doses of prednisone and lorazepam, and additional IVIG treatments as described above. She received intensive out-patient rehabilitation including speech, physical and occupational therapy. At her clinic visit two weeks post-hospital discharge, she was slow to respond verbally but had had obvious clinical improvement with the ability to talk in complete sentences and respond appropriately. Her verbal abilities and communication skills appeared normal at her 6-week post-ECT clinic appointment.
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pmc-6378761-1
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A 34-year-old male with stage IV cirrhosis secondary to autoimmune hepatitis (AH) and concomitant alcoholism presented to a regional hospital emergency room with fever, vomiting, and altered mentation in the setting of presumed alcohol withdrawal. His prior diagnosis of AH was made two years' prior via transhepatic biopsy and treatment was initiated with azathioprine and prednisone; however, the patient was nonadherent. He immigrated from Pakistan in 2009 and was married with a 4-year-old daughter with no family history of autoimmunity.
At the initial assessment, the patient was hyperthermic at 41.5°C, tachycardic with a heart rate of 132 beats per minute, and tachypneic at 24 breaths per minute with normal oxygen saturation. Bedside examination revealed livedo reticularis of his lower extremities with palmar erythema and spider nevi. His abdomen was slightly firm with tenderness in his right upper quadrant. No organomegaly or peritoneal signs were identified.
Due to suspected sepsis and severe alcohol withdrawal, he was transferred to the ICU for intubation and agitation management. Additionally, broad-spectrum antimicrobial treatment was initiated with coverage for spontaneous bacterial peritonitis and presumed community-acquired meningitis with meropenem, vancomycin, and acyclovir. Over the coming four days, his level of consciousness continued to decline and he developed seizures.
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pmc-6378780-1
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A 34-year-old white healthy male underwent uneventful penetrating keratoplasty for keratoconus of ABCD stage 4 []. Preoperatively antisepsis of the periocular skin and eye with 10% povidone-iodine solution was applied for three minutes. The graft was sutured with 10-0 double running nylon (ETHILON® Nylon Suture, Ethicon, USA). For the prophylaxis of endophthalmitis, in this patient vancomycin was indicated due to the allergy to beta-lactam antibiotics and 1 mg/0.1 mL was instilled intracamerally. The vancomycin powder (Vancomycin Kabi 500 mg, Xellia Pharmaceuticals ApS, Denmark) was reconstituted and diluted with 0.9% sodium chloride injection. Six hours after the surgery the patient complained of pain in the operated eye. Photophobia, blepharospasm, and pale lid oedema were present with pinhole visual acuity of logMAR 1.0. No ciliary injection or corneal oedema was present. Graft was secured to the host cornea with equal tension along the suture and negative Seidel test. White, cheese-like material, sedimented and irregularly bordered superiorly to the rest of the clear anterior chamber, was found [].
Tyndall was negative, pupil round, and reactive. The lens and the vitreous body were clear. Applanation tonometry was 11 mmHg. Ultrasound documented no pathology of the eye and orbit. The pain decreased on tetracaine drops (Tetrakain® 0.5%, Gradska ljekarna, Zagreb, Croatia). Laboratory tests' results (complete blood count with differential and erythrocyte sedimentation rate) were unremarkable. Under the strong presumption that vancomycin precipitated in the residual viscoelastic no attempts to lavage the anterior chamber were undertaken. Topical dexamethasone with antibiotic (Maxitrol, Alcon Cusi SA, El Masnou, Barcelona, Spain; SA, Alcon-Couvreur NV, Puurs, Belgium) was administered q.i.d. Ophthalmological follow-up was performed hourly for seven hours until the pain resolved. Complete dissolution of precipitates ensued 19 hours following the surgery.
The case report was written with the approval of the institutional research ethics committee, complying with the tenets of the Declaration of Helsinki.
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pmc-6378786-1
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A 28-year-old white male with past medical history of epilepsy and asthma was referred to us from an outside hospital for recurrent seizures and higher level of care. EMS was called to his home after family reported him having two or three episodes of generalized tonic clonic (GTC) seizure like activity for an undocumented duration of time. EMS noted the patient was in a postictal phase and he was then taken to the nearest hospital where patient had another episode of GTC seizures lasting about 5-10 mins. Patient also became apneic and cyanotic and was subsequently sedated and intubated for airway protection. Levetiracetam loading dose was given. Brain CT done was unremarkable. Vitals signs showed elevated blood pressure of 170/90 and heart rate in 120s. Initial labs showed mild leukocytosis and a normal renal function with serum creatinine (scr) of 1.3 mg/dL. Urine drug screen was negative. He was then transferred to our hospital for neurology consultation and ICU admission. Laboratory test results are shown in . Repeat labs showed mild elevation in scr of 1.7mg/dL. Initial serum electrolytes and lactic acid were within normal limits. Serum creatine kinase (CK) level was mildly elevated at 297 U/L. Pt was started on iv hydration with ringers lactate (LR) at 100 ml/hr along with antiseizure medications, namely, iv Midazolam, Levetiracetam, and Lacosamide. He remained seizure free. Labs on day 2 showed worsening AKI with scr of 4.9 mg/dL and bicarbonate of 18 mEq/L with CK level of 663 U/L. Repeat scr was noted to be 5.2mg/dL with lactic acid of 3.6 mmol/L and phosphorus of 5.4 mg/dL. Patient had remained nonoliguric with urine output of about 40-60 ml/hr. Urgent urine microscopy was performed which showed numerous uric acid crystals and occasional granular casts [Figures , , and ]. A stat serum uric acid level was noted to be significantly elevated at 15 mg/dL. Urinalysis showed clear urine with ph 5.5, specific gravity of 1.005, 0-5 RBCs, 0-5 WBCs, no proteins, and 1+ blood. A spot urine uric acid to creatinine ratio was found to be elevated at 1.2. Based on the above findings a diagnosis of acute uric acid nephropathy was made. IV fluids were changed from LR to iv sodium bicarbonate at 150ml/hr. Patient was given a dose of iv Rasburicase 0.2 mg/ kg. Repeat labs done about 4 hrs after Rasburicase administration showed that serum uric acid level had dropped to 4 mg/dL. Scr however continued to rise to 6.1mg/dL with CK level of 464 U/L. A significant increase in urine output of about 100-150 ml/hr was however noted soon after Rasburicase administration. Day 3 scr started trending down to 6 mg/dL and serum uric acid had further dropped to 0.8. There was continued renal recovery with scr of 5.5 and CK level of 792 U/L on day 4. Patient remained seizure free throughout his hospital stay and his renal function completely recovered to normal by day 7.
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pmc-6378792-1
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A 26-year-old Caucasian female with known Moyamoya disease presented with a chief complaint of right-sided chest pain and numbness radiating to her right arm mimicking symptoms of a previous non-ST-elevation myocardial infarction.
Six months prior, the patient underwent coronary angiography remarkable for a critical lesion of the right distal coronary artery (). At that time, she underwent successful percutaneous intervention with two drug-eluting stents to the distal right coronary artery (). She had multiple other comorbidities including coronary artery disease, restrictive cardiomyopathy, hyperlipidemia, chronic kidney disease stage IV, anemia of chronic disease, recurrent pneumonia, immunoglobulin deficiency, osteoporosis, and history of cerebral vascular disease. In the months leading up to this admission, she suffered multiple noncardiac complications including symptomatic anemia, pneumonia with hemoptysis, and lower extremity ulcerations. She closely followed with hematology requiring Procrit for hemoglobin levels less than 7.0 g/dL with notable improvement in fatigue and weakness. She was also referred to dermatology for suspicious lower extremity lesions that were biopsied and felt to be autoimmune with intentions on starting IVIG.
Upon this admission, her initial troponin was 0.12 ng/mL which continued to rise to a maximum of 0.79 ng/mL over the first 24 hours; however, no specific EKG changes were noted. Given her rising troponin, presenting symptoms, and recently diagnosed coronary artery disease, she was started on guideline-directed medical therapy for acute coronary syndrome including heparin and beta blockade with as needed nitroglycerin, which provided significant improvement in symptoms. Due to the initial resolution of symptoms with medical management and associated high-morbidity conditions, we deferred left heart catheterization. Other significant initial labs included a 62 mg/dL BUN, 4.52 mg/dL creatinine, 23.0 mEq/L anion gap, 9.4 g/dL hemoglobin, 29.6% hematocrit, 18.2 white blood cell count, and 394 platelet count. A bedside echocardiogram was preformed revealing a normal left ventricular size with moderately reduced function with an LVEF of 40-45% along with mild global hypokinesis.
Over the subsequent 72 hours, she continued to have intermittent angina and her cardiac biomarkers began to climb, but serial EKGs did not display any signs of ST-segment changes. During this time, we obtained daily complete blood cell counts revealing a declining hemoglobin, and over time, a fall in her blood pressure was noted. Ultimately, we made a diagnosis of a type II non-ST-elevation myocardial infarction, believed to be secondary to demand ischemia. Therefore, we began blood transfusions to maintain a hemoglobin greater than 8.0 g/dL providing a resolution of anginal type symptoms.
Despite continued medical management and improvement in her hemoglobin level, our patient again developed persistent recurrent angina. On hospital day nine, she developed angina not relieved by nitroglycerin, and a repeat EKG revealed inferior lead ST-elevations consistent with acute ST-elevation myocardial infarction. She underwent left heart catheterization remarkable for 90% stenosis of the first obtuse marginal branch (), which was revascularized with a third drug-eluting stent (). Diagnostic catheterization also revealed new 40-50% restenosis of her previous distal RCA stent () and noncritical stenosis of the first diagonal branch ().
During this prolonged hospitalization, our patient suffered further complications including superficial femoral artery ischemia requiring intervention, acute on chronic renal failure, and sepsis secondary to pneumonia. Due to her worsening overall condition and multiple comorbidities, our patient elected to go home with hospice and ultimately passed away.
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pmc-6378798-1
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During routine follow-up, a 70-year-old Caucasian male with past medical history of type 2 diabetes mellitus, gout, chronic kidney disease (CKD) stage IV, anemia of chronic disease, vitamin D deficiency, and hypertension, managed with patiromer acetate for persistent hyperkalemia secondary to CKD, presented with hypercalcemia. Home medications included metformin, allopurinol, weekly erythropoietin, and vitamin D supplementation. Serum potassium was persistently above 5.5 mmol/L prior to treatment initiation. Estimated glomerular filtration rate (eGFR) was 24 ml/min/1.73 m2, blood urea nitrogen (BUN) was 86 mg/dl, and creatinine was 2.6 mg/dl. Other labs included calcium (Ca), 9.2 mg/dl; potassium (K), 5.7 mmol/L; and parathyroid hormone (PTH), 86 pg/ml. BUN and creatinine were similar over the last year. Initial patiromer acetate dosing was 8.5 mg nightly. Symptomatically, the patient tolerated the medication very well. However, calcium at 30-day follow-up increased to 10.2 mg/dl, and potassium level decreased to 5.1 mmol/L. Since the patient was asymptomatic, he was advised to continue patiromer acetate and discontinue vitamin D supplementation. Repeat lab values after two months demonstrated higher calcium, 10.7 mg/dl, and unchanged potassium, 5.1 mmol/L.
At this point, secondary causes of hypercalcemia were investigated. See . Mild hyperparathyroidism of 86pg/ml before the initiation of therapy (normal 15-65pg/ml) was considered secondary to vitamin D deficiency. 25-hydroxy (OH) Vitamin D was 31 ng/ml (normal: 30-100ng/ml), and 1, 25-OH Vitamin D was 10.2 pg/ml (normal: 19.9-79.3pg/ml), suggesting insufficient 1-alpha hydroxylase enzyme secondary to CKD. Parathyroid hormone related peptide (PTHrP) was within the normal limit, 2.1 pmol/L (normal: 0.0-2.3pmol/L). Normal bone density was observed on dual energy X-ray absorptiometry (DEXA) scan; the lowest T score (– 1.2), was femoral. Urinalysis was negative for proteinuria; urine immunofixation demonstrated no light chains. Thyroid stimulating hormone (TSH) level was 0.874 uIU/mL (normal 0.27-4.2uIU/mL). Chest computed tomography (CT) scan showed multiple bilateral 2-3 mm calcified and noncalcified pulmonary nodules. Nodules were stable in size, compared to scan seven years before, and considered noncontributory to hypercalcemia. Angiotensin converting enzyme (ACE) level was 53 U/L (normal 9-67 U/L).
With no obvious secondary causes of hypercalcemia on laboratory assessment and imaging, patiromer was discontinued. Despite discontinuation, he continued the medication because of misunderstanding. On follow-up after an additional 30 days, calcium returned even higher, 11.6 mg/dL (), and potassium even lower, 4.6 mmol/L (Figures and ). After additional patient education, he was advised again to stop taking patiromer acetate. One month after stopping medication, calcium normalized to 8.4 mg/dL. PTH level, suppressed at 10 pg/ml during the hypercalcemic state, returned to 66 pg/ml after calcium normalization and patiromer acetate cessation. BUN, 80 mg/dl; creatinine, 2.8 mg/dl; and GFR, 22 mL/min/1.73 m2 remained stable. Potassium trended upward, 5.3 mmol/L.
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pmc-6378833-1
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A 30-year-old woman presented for bariatric surgery. Her body mass index(BMI) was 41.7. She was discharged only 3 days after the laparoscopic sleeve gastrectomy. For the abrupt loss of appetite, the patient only took pure warm water from the next day of the surgery for a week, then, clear liquid diet for another week till she was hospitalized again because of fever (around 38°C), low degree dull abdominal pain and vomiting on the 13th post-operative day. Routine blood test suggested an infection profile. The abdominal computed tomography (CT), esophagography and gastroscopy revealed the presence of abscess and related anastomotic leakage ().
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pmc-6378837-1
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An 81-year-old man was admitted to our hospital because of gastric SMT that was noted during an annual gastrointestinal examination. He had a history of type 2 diabetes mellitus and myocardial infraction treated with anticoagulant therapy, percutaneous intervention, and coronary artery bypass graft. His blood examination results were within normal range, but the tumor marker levels were high: carcinoembryonic antigen, 16.8 ng/mL (normal, <5.0 ng/mL) and α-fetoprotein (AFP), 83.5 ng/mL (normal, <10.0 ng/mL). Endoscopic examination of the gastrointestinal tract revealed SMT (approximately 30 mm in diameter) located at the lower gastric body and with erosion on the top of the tumor (A). Endoscopic ultrasonography (EUS) revealed that the tumor presented as a well-defined hypoechoic mass (22 × 12 mm) arising from the submucosal layer of the stomach (B). Endoscopic biopsy of the erosion site revealed no malignancy. EUS-FNA and boring biopsy were performed. Histopathological evaluation revealed that the tumor had dense proliferation of larger atypical cells. Immunohistochemical analysis revealed that these tumor cells were positive for Caudal-type homeobox-2 (CDX-2) and negative for synaptophysin and chromogranin A. These findings suggested that the SMT originated from a gastrointestinal adenocarcinoma. Contrast-enhanced computed tomography revealed a 30-mm tumor located in the gastric vestibule and an enlarged lymph node No. 6 (22 mm). Hence, the preoperative diagnosis was gastric carcinoma with lymph node metastasis.
We performed distal gastrectomy with D2 lymph node dissection and Roux-en-Y reconstruction after obtaining informed consent from the patient. The resected specimen showed a tumor (35 × 18 mm) located at the lower body of the stomach. Postoperative histopathological examination of the specimen revealed a poorly differentiated adenocarcinoma with high lymphocyte proliferation in the peripheral tumor. Although the tumor invaded the muscularis propria, the tumor surface was covered with non-malignant epithelial mucosa (). Moreover, immunohistochemical analysis demonstrated that napsin and AFP were negatively expressed and CDX-2 was diffusely expressed. Epstein-Barr virus (EBV)-encoded RNA-1 (EBER-1) in situ hybridization confirmed the absence of EBV in gastric tumor cells. Metastasis of the adenocarcinoma was found in 1 (No. 6) of 41 excised lymph nodes. The postoperative pathological stage was IIA (T2N1cM0), according to the Japanese classification of gastric cancer [].
The patient was discharged on the postoperative day 19 without any complications. Although he refused adjuvant chemotherapy, no recurrence or metastasis occurred during the follow-up period of 18 months.
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pmc-6378842-1
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In November of 2016 a 56 year old woman received the diagnosis of a caecal adenocarcinoma at the time of a screening colonoscopy. The carcinoembryonic antigen (CEA) blood test was 90. A CT was performed in December of 2016 and a single slice through the cancer is shown in . The mass measured 8 cm in greatest diameter. Its posterior borders suggested local penetration into adjacent retroperitoneal tissues. Lymph node involvement was suspect with a node greater than 1.5 cm in diameter.
In December of 2016 the patient was taken to the operating theater. By laparoscopic exploration no peritoneal or ovarian metastases were seen. The mass was mobilized by laparoscopic dissection and the proximal small bowel and ascending colon were divided without incident. The dissection posteriorly was difficult. To avoid damage to the right ureter a right ureteral stent was placed and the laparoscopic resection was converted to open [].
The pathology report showed a poorly differentiated T3N2M0 malignancy. The margins of resection were not involved by cancer. The patient recovered from the surgery without incident. CEA decreased to normal range.
Because of the positive lymph nodes, the patient was recommended for adjuvant chemotherapy with 5-fluorouracil and oxaliplatin (FOLFOX regimen) []. In December of 2017, an increasing CEA blood test to 20 ng/ml was noted and a follow-up CT obtained. A mass was identified in the left mid-abdomen and was biopsied under CT guidance. Pathology showed adenocarcinoma that was histologically the same as the primary caecal malignancy. A full course of 5-fluorouracil with irinotecan (FOLFIRI) was administered []. On systemic chemotherapy the patient remained asymptomatic but the CEA increased to 74 ng/ml.
In May of 2018, the patient was evaluated for cytoreductive surgery (CRS) and possible hyperthermic intraperitoneal chemotherapy (HIPEC) []. CT showed masses in the omentum and rectouterine space (). In May of 2018, the patient underwent an exploratory laparotomy. There was a large volume of adenocarcinoma at the right colon resection site. There were multiple cancer nodules along the course of the right ureter. Four nodules approximately 3 cm in diameter were present within the greater omentum. A solitary nodule 4 cm in diameter was present in the rectouterine space. At the time of an 8-hour cytoreductive surgical procedure all these sites of recurrent disease were resected and determined to be infiltrated by adenocarcinoma compatible with the primary cancer specimen. The patient received HIPEC with melphalan and early postoperative intraperitoneal pegylated liposomal doxorubicin (Doxil) []. The peritoneal cancer index was 16 and the completeness of cytoreduction score was 0 []. Postoperatively, the patient developed absolute neutropenia on postoperative days 5 through 8 requiring treatment with filgrastim (Neupogen®). Postoperatively, her CEA blood test returned to normal and she is currently on surveillance by CEA blood tests and CT.
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pmc-6378842-2
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A 55 year old man was diagnosed with anemia by his family physician towards the end of 2017. In February of 2018, an upper GI endoscopy and colonoscopy were performed which showed a right colon cancer. CEA was 40.4. CT of the chest, abdomen, and pelvis was obtained in February of 2018. This showed a mass 7 cm in greatest diameter that was immediately adjacent to the undersurface of the right liver and contiguous with numerous loops small bowel and the lowest part of the second portion of the duodenum (). There were mildly prominent mesenteric lymph nodes but no evidence of distant metastatic disease.
In February of 2018, the patient underwent a single port laparoscopic right colon resection. The surgeon described the tumor as stuck to the undersurface of the liver with adhesions taken down without difficulty. On histopathologic examination, the tumor was PT3N0M0 with 0/16 positive nodes. Perineural invasion was identified. The cancer was moderately to poorly differentiated. Systemic chemotherapy was not recommended.
In June of 2018, the patient began noting problems with digestion and pain after eating. CEA had increased to 940 ng/ml. Repeat CT scan showed multiple nodules within the greater omentum compatible with peritoneal metastases. The liver, kidneys, and ureters were normal. There was marked stranding within the right colon resection site (). Bowel loops proximal to the prior ileocolic anastomotic site were moderately dilated and fluid-filled. A mass was noted in the abdominal wall at the laparoscopic port site. There was also a mass in the rectovesical space immediately adjacent or invading the right and left seminal vesicles.
In July of 2018, the patient underwent exploratory laparotomy. The posterior surface of the liver was layered by cancer. The undersurface of the right hemidiaphragm was covered by tumor nodules. The pelvis contained a 4 cm tumor mass invading into the seminal vesicles. The old ileocolic anastomosis was involved and needed to be resected. The umbilical port site was infiltrated by cancer. Near complete resection was possible by cytoreductive surgery.
Intraoperatively, the patient was treated with HIPEC-melphalan []. This postoperative course was unremarkable. The histopathology showed adenocarcinoma compatible with the primary tumor in all tissues submitted. The peritoneal cancer index was 28 and the CC score was 2 []. The resection was judged to be a palliative effort and its major goal was to relieve intestinal obstruction and to prepare the patient for rapid initiation of palliative systemic chemotherapy.
Neither of our patients was evaluated by the MDT preoperatively. Their preoperative and intraoperative management was evaluated in an attempt to improve the outcome of subsequent patients.
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pmc-6379256-1
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A 35-year-old Chinese man, employed at a bank, showed the following abnormal thyroid function results during a health examination at our hospital in November 2016: thyroid-stimulating hormone (TSH), < 0.005 mU/L (normal, 0.27–4.2); free triiodothyronine (FT3), 26.11 pmol/L (3.6–7.5); free thyroxine (FT4), 59.16 pmol/L (12.0–22.0); anti-thyroid peroxidase antibodies (TPO-Ab), >600 IU/ml (<34); and anti-thyroglobulin antibodies (TG-Ab), >4,000 IU/ml (<115).
The same man was admitted to a local hospital in March 2017 for further evaluation. He reported palpitations, sweating, heat intolerance, weakness, fatigue, polyphagia, tremors, and increased defecation lasting throughout the previous 6 months. A physical examination revealed no distinctive abnormalities except for a goiter. The results of thyroid function tests were as follows: TSH, < 0.0004 mIU/L (normal, 0.35-4.94); FT3, 17.74 pmol/L (2.63-5.70); FT4, 33.64 pmol/L (9.01-19.05); TPO-Ab, >400 IU/ml (<30); TG-Ab, >2,000 IU/ml (<75); and anti-thyroid-stimulating hormone receptor antibodies (TSHR-Ab), 38.89 IU/L (<1.22). Thyroid ultrasonography revealed an uneven echoic involvement of the parenchyma, with iso-echo nodules of regular shape and a clear boundary in the right lobe and isthmus. The 24-h rate of radioactive iodine uptake increased, with a peak appearing in advance. The patient was diagnosed with “hyperthyroidism” and given the anti-thyroid drug Tapazole orally (10 mg, three times daily). After treatment for 20 days, the patient complained of itchy skin and a red rash. This was interpreted as an allergic reaction, so Tapazole was discontinued, radioactive iodine therapy was then given, and the patient was discharged.
In May 2017, the patient displayed ptosis of the left eye, which grew worse by the end of the day or after exertion, and which improved upon rest. He also exhibited diplopia and limited eye movement in all directions, which at its worst meant that he could not move his eyes at all. In addition, the patient reported generalized muscle ache and weakness. Thyroid function tests at the local hospital gave the following results: TSH, < 47.8642 mIU/L; FT3, <1.54 pmol/L; FT4, <5.15 pmol/L; TPO-Ab, >400 IU/ml; and TG-Ab, >2,000 IU/ml. The patient was diagnosed with hypothyroidism and took levothyroxine (L-T4, 75 mg per day) replacement therapy. Two weeks later, the symptoms of fatigue, muscle weakness and myalgia had completely disappeared. However, after 2 months of L-T4 therapy, ocular symptoms persisted, and the patient was admitted to the neurology department in the same local hospital in July 2017. A physical and neurological examination found no abnormalities except for ptosis of the left eye and the limited movement of both eyes in all directions, without proptosis, periorbital or limb edema. TSH, FT3, and FT4 were normal. TPO-Ab was >400 IU/ml, TG-Ab was 1416.67 IU/ml, and serum lactic acid was 2.4 mmol/L (normal, 0.5–2.2). Complete blood count, tests of liver and kidney function, as well as levels of creatine kinase and serum tumor markers were normal. Magnetic resonance imaging of the brain, cervical vertebra, and the orbital cavity was normal, as were the electrocardiogram and echocardiography. Contrast-enhanced computed tomography of the chest was normal, revealing no obvious thymic hyperplasia or thymoma. Thyroid ultrasonography revealed uneven echoic involvement of the parenchyma, with iso-echo nodules in the right lobe. Low- and high-frequency repetitive nerve stimulation did not reveal abnormal decrease or increase in the amplitude of compound muscle action potential. The Ptosis was apparently alleviated, based on the positive response in the neostigmine test () (, ), but restricted eye movement and diplopia remained. Conventional enzyme-linked immunosorbent assays (ELISAs) showed normal levels of antibodies against AChRs (0.39 nmol/L; normal, <0.4), muscle-specific kinase (<0.4 U/ml; normal, < 0.4), skeletal muscle, myocardium, titin, and SOX1. Ocular MG was suspected, and the patient was prescribed pyridostigmine bromide (60 mg, three times a day) along with the previous L-T4 regimen.
In August 2017, the patient was admitted to our neurology department complaining of restricted eye movements. The following test results were obtained upon admission: serum lactic acid, 2.7 mmol/L (normal, 0.7-2.1); TSH, FT3, and FT4, normal; TPO-Ab, >600 IU/ml; and TG-Ab, >4,000 IU/ml. Normal findings were obtained for complete blood count, erythrocyte sedimentation rate, liver and kidney function, electrolytes, serum glucose, serum lipid, creatine kinase, and serum tumor markers. A thyroid ultrasonography revealed uneven hypoechoic involvement of the parenchyma, with mild hyper-echo nodules in the right lobe. Low- and high-frequency repetitive nerve stimulation did not reveal abnormal changes in the amplitude of compound muscle action potential. Nerve conduction tests and needle electromyography both provided normal findings. Contrast-enhanced magnetic resonance imaging of the orbital cavity revealed thickened extraocular muscles in both eyes, with an obvious uneven enhancement.
Given the possibility of a mitochondrial disease, such as chronic progressive external ophthalmoplegia, a muscle biopsy was conducted, and findings did not indicate any distinctive abnormalities. The patient was started on combination therapy of L-T4 and pyridostigmine bromide, which led to a stable condition of limited eye movement and mild diplopia. He stopped using pyridostigmine bromide in November 2017 when he began planning for a baby. A follow-up in December 2017 and February 2018 showed only mild abnormality in the left eyelid ().
summarizes the results of the thyroid function tests from the beginning in November 2016 to last follow-up. During the follow-up, radioimmunoprecipitation assays revealed the presence of antibodies against AChRs (7.310 nmol/L; normal, <0.5) and muscle-specific kinase (0.005 nmol/L; normal, < 0.05). Later on, titer of anti-AChR antibodies was 0.678 nmol/L (normal, <0.4) based on an ELISA test and 1.864 nmol/L (normal, <0.5) based on a radioimmunoprecipitation assay ().
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pmc-6379494-1
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The patient was a 44-year-old man, non-smoker, with a history of IgA nephropathy. He had no history of trauma or anticoagulant use and had no significant/relevant family history. He had no smoking history. The patient was referred to our hospital with the chief complaint of bloody sputum. He also complained of right upper back pain. He was alert, afebrile, and his vital signs were stable, with a peripheral arterial oxygen saturation level of 98% on room air. A plain chest X-ray revealed decreased radiolucency of the right lung field and an opacity in the right lower lung field (Fig. a). Chest computed tomography revealed a right pleural effusion and a large round mass in the right lower lobe, measuring 6.7 × 5.6 cm in size (Fig. a, b). This mass was not observed in a CT examination performed 10 months previously (Fig. c). Hematological examination showed a leukocyte count of 8200/μL, hemoglobin level of 12.3 g/dL, serum creatinine of 1.86 mg/dL, serum C-reactive protein level of 0.19 mg/dL, prothrombin time of 10.5 s, activated partial thromboplastin time of 25.9 s, serum fibrinogen level of 412 mg/dL, and a serum D-dimer level of 0.8 mg/L. Tests performed for markers of infectious diseases, such as serum β-D-glucan, serum aspergillus galactomannan antigen, and serum anti-glycopeptidolipid core immunoglobulin A antibodies were all negative. A test for tuberculosis-specific interferon-gamma and sputum smear examination for acid-fast bacilli were negative. We performed chest tube drainage of the right thorax and confirmed bloody pleural effusion. The chest tube drained 600 mL of bloody effusion within 2 h. Six hours after admission, as the patient continued to have hemoptysis and his hemoglobin level dropped from 12.3 to 10.3 g/dL, emergency bronchial artery embolization was performed (Fig. ).
On the following day, the chest X-ray findings deteriorated (Fig. ) and the hemoglobin level dropped further from 10.3 to 7.4 g/dL. The hemoptysis persisted, and there was no reduction in the drainage volume of the bloody fluid from the chest tube. Therefore, we decided to perform emergency surgery.
Intraoperative observation showed bloody pleural effusion, fibrin clots on the lung surface, and a giant mass in the right lower lobe. There was evidence of injury to the visceral pleura, which was stretched excessively by the mass (Fig. ). We performed right lower lobectomy with extirpation of the clot. We could not exclude the possibility of lung cancer; therefore, we additionally performed lymph node dissection. The operative time and estimated blood loss were 143 min and 163 mL, respectively. Histopathological examination showed a hematoma with granulation tissue and multiple ossified areas with bone marrow formation. The hematoma, which measured 9.2 × 8.0 cm in maximum diameters, consisted of fresh and old hemorrhages, and rupture of a blood vessel wall was observed within the hematoma (Fig. ). In addition, multiple ossified areas with bone marrow formation were observed around the hematoma. There was no evidence of malignancy or angiitis. Based on these findings, we diagnosed this patient as having a pulmonary hematoma with diffuse dendriform pulmonary ossification (Fig. ). After the operation, the patient was discharged without any complications, and a follow-up chest X-ray showed no evidence of recurrence.
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pmc-6379499-1
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The case of an 83-year old woman with a history of thyroid cancer, breast cancer, and rheumatoid arthritis is presented. She had no relevant family history. After surgery for thyroid and breast cancers, elevations of carcinoembryonic antigen and carbohydrate antigen 19-9 were observed. She had no abdominal tenderness, and no mass was palpable. Laboratory results were unremarkable. Colonoscopy showed a type 2 tumor localized in the upper rectum (Fig. a). Following biopsy, the lesion was confirmed to be moderately differentiated adenocarcinoma. Contrast CT examination showed wall thickening of rectal cancer and swollen lymph nodes, but there were no distant metastases (Fig. b). In addition, abdominal contrast CT examination also revealed vascular anomaly (Fig. a–d). Laparoscopic surgery was planned, and a 3D-CT was constructed from contrast CT images to investigate local vascularity. The 3D-CT scan showed a venous malformation forming a short circuit (Retzius shunt) from the IMV to the IVC (Fig. a, b).
Based on these findings, upper rectal cancer with a Retzius shunt from the IMV to the IVC was diagnosed. Laparoscopic anterior resection was performed. Laparoscopic observation showed a number of engorged vessels in the mesentery (Fig. a) and the Retzius vein crossing the abdominal aorta and inferior mesenteric artery (IMA) to the IVC (Fig. b, c). The Retzius vein and IMA were clipped without major bleeding (Fig. d), and then tumor-specific mesorectal excision was completed. The patient was discharged on the 14th day after surgery with no complications. Histological examination showed the tumor to be moderately differentiated adenocarcinoma with invasion of the subserosa (T3) and lymph node metastasis (N2). No distant metastases were found (M0) at the time of surgery. The histological TNM staging of the tumor was stage IIIB, with no other remarkable findings.
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pmc-6379503-1
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A 38-year-old woman with a 3-month history of an anterior cervical mass located in the suprasternal region of her neck was referred to our hospital. Physical examination revealed that the 3-cm movable neck mass was firm and slightly tender on palpation and had a distinct margin from surrounding tissues. An ultrasound examination showed that the well-defined oval mass was 31 × 23 × 17 mm in size and exhibited heterogeneity. Furthermore, a non-enhanced computed tomography (CT) scan of the neck revealed that the distinct neck mass in the subcutaneous tissue had a mixture of soft tissue and fatty components (Fig. ). Based on these findings, the cervical tumor was clinically diagnosed to be an unusual lipoma with degeneration; however, we could not exclude the possibility of it being a malignant tumor such as liposarcoma. Thus, fine-needle aspiration cytology of the tumor was performed, but no diagnosis of malignant cells was obtained. Further examinations were conducted to address concerns related to her menstrual pain, and abdominal magnetic resonance imaging revealed bilateral ovarian cysts in the lower abdomen. Under general anesthesia, the patient underwent neck mass extirpation and bilateral ovarian cystectomy; pathological examination of the cysts resulted in a diagnosis of ovarian endometriotic cysts. During the surgery, the cervical mass was well demarcated and did not adhere to the surrounding tissues. The postoperative course was uneventful. The gross pathology report showed that the neck mass measured 3.0 × 2.5 × 2.0 cm. The cut surface of the specimen was heterogeneous, solid, whitish, and yellowish (Fig. ). Microscopically, the tumor was composed of spindle cells, epithelial nests, and mature adipose tissue (Fig. a, b). Immunohistochemical examination revealed that both spindle cells and epithelial nests were positive for cytokeratin (CK) AE1/AE3 (Fig. ). As these histopathological findings were consistent with the features of EHT, a diagnosis of EHT was confirmed. Over a follow-up period of 30 months, this patient exhibited no evidence of recurrence.
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pmc-6379504-1
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A 21-year-old woman presented with left upper quadrant pain. She underwent routine blood tests and non-contrast computed tomography (CT). The blood tests did not show any abnormalities, and the CT showed the presence of three, similarly sized spleens, but no other abnormalities. As the patient did not have any other symptoms, she was sent home with a prescription for an analgesic. However, the abdominal pain did not improve and she returned to the hospital 2 days later. Her inflammatory markers were somewhat elevated, and an enhanced CT showed that one of the multiple spleens did not pick up the contrast (Fig. a). We diagnosed her with splenic infarction; however, the cause of the infarction was unclear, and torsion or embolism was considered possibilities. The patient was admitted and began conservative therapy, including fasting and antibiotic administration. However, neither her abdominal pain nor inflammatory marker levels improved (Fig. b). Hence, we performed a follow-up enhanced-CT scan, 2 days after admission, which showed that the splenic infarction had not improved and that ascitic fluid was present around the spleen and in the pelvic space (Fig. ). At this point, we decided to surgically remove the infarcted spleen. Considering that the patient was a young woman, we elected to perform a laparoscopic splenectomy after receiving informed consent.
The surgery was performed under general anesthesia, with the patient in a supine position and her legs spread apart. We created an umbilical incision and inserted three operating ports along the left subcostal margin (5 mm, 12 mm, and 5 mm in size), and a 5-mm operating port on the left side of the abdomen (Fig. ). The port sites were selected along the lines of a left subcostal incision, in case conversion to open surgery became necessary. These port sites were also in a co-axial position to the surgeon. There were no adhesions observed in the abdominal cavity. First, we incised the omentum and opened the bursa, detecting two non-infarcted spleens in front of the pancreas. Behind these spleens, there was an infarcted spleen surrounded by fluid. We incised the inflamed adipose tissue around the spleen to expose the pedicle, which was twisted; consequently, we diagnosed splenic torsion (Fig. a). Using an automatic suturing device, we dissected the pedicle of the infarcted spleen. The umbilical incision was extended to remove the resected spleen (78 × 57 × 35 mm) (Fig. b). After confirming the absence of active bleeding, we sutured the incisions. The surgical time was 119 min, and there was little blood loss. The patient did not experience any complications and was discharged 4 days after surgery.
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pmc-6379532-1
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A male patient aged 8 years reported to the Outpatient Department of Pedodontics and Preventive Dentistry, The University College of Medical Sciences (UCMS) and Guru Teg Bahadur (GTB) hospital with the chief complaint of an unusually large and unappealing upper lip because of which the patient was ridiculed by his peers and relatives. The patient’s parents first noticed the abnormality 3 to 4 years back and reported that it insidiously enlarged over the years. The patient had no functional problems but wanted it corrected only for esthetic reasons. There was no previous history of trauma, any oral habits, infection or surgery on the lip. Presence of similar condition in any other family member or sibling was denied by his parents. Medical history of the patient was also non-contributory.
On examination, an additional fold of bilateral mucosal tissue with a central constriction was observed on the inner aspect of the upper lip. Superficially, the mucosal surface was intact with no surface changes visible or palpable. The excess tissue was not very conspicuous when the patient’s lips were at rest (), but became very prominent when the patient smiled or spoke (). The congenital maxillary double lip was the provisional diagnosis made. There were no associated congenital oral defects. Blepharochalasis and thyroid enlargement as seen in Ascher’s syndrome were also absent. Blood profile was within normal limits and ultrasonography neck confirmed no thyroid enlargement. Hence surgical excision of the double lip under local anesthesia was planned.
The redundant mucosal tissue was marked and local anesthesia administered. A transverse elliptical incision was given to excise the excess tissue (). Lip being highly vascular structure, local infiltration was chosen as the method of administering anesthesia because along with providing adequate anesthesia it also helped in obtaining hemostasis for a clean surgical field. The surgery was uneventful, and hemostasis was achieved by pressure packs. The hyperplastic mucosal tissue along with minor salivary glands present within this tissue was excised. Simple interrupted 3-0 vicryl sutures were given () and light pressure pack placed over the upper lip for 24 hours. No postoperative complication was observed, and the results were very aesthetic. The patient was recalled after 24 hours, and then after 1 week for suture removal. The excised specimen was sent for biopsy and histopathology showed epithelium with underlying minor salivary glands. He was recalled after 1 month and kept on further follow-up. The parents and the child were both very satisfied with the results ().
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pmc-6379601-1
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The study, conducted in 2017, describes a four-yr-old girl, third in birth rank from Ferdos (a city near Mashhad in the northwest of southern Khorasan Province), whose parents are first cousins. Her older brother suffers from congenital hearing loss. The parents first realized that the kid has below-average head circumference following a routine check-up at age one. Then, they were referred to a pediatric neurologist, who established microcephalus. After further investigation, she also has significant delay in achieving motor milestones, along with mild lexical difficulties. She was not diagnosed with a specific neurological disorder by age three. At present, aged 4, she was checked for metabolic disorders when the muscle and liver enzyme levels were high. Complete blood count, erythrocyte sedimentation rate (ESR), thyroid functions, lactate, pyruvate, ammonia, plasma, and amino acid profile were normal. Creatinine phosphokinase (CPK) was 1154 IU/l (Reference: 24–190 IU/l). Other abnormal test includes Aldolase 52 U/L (normal <14.5 U/L), total lactate dehydrogenase (LDH) 840 U/L (normal 143–290 U/L), aspartate aminotransferase (AST) 102 U/L (normal 8– 50 U/L), and alanine aminotransferase (ALT) 201 U/L (normal 7–45 U/L). She was subsequently referred for neuromuscular examination as well as EMG study. She is actually suffering from generalized hypotonia and weakness. Mental functions including speech and cranial nerves were normal in neurological examination. No skeletal abnormalities were observed. Moreover, EDX studies showed a Myopathic process with mild muscle irritability. Sensory system was normal and Respiratory, cardiovascular and abdominal systems were normal.
Based on her proximal muscle weakness and other signs and symptoms we doubt to LGMD and offer molecular testing for those genes that involves in LGMDs. After explaining the NGSmethod a consent form was taken from the patient and her family. Then blood sampling was done and genomic DNA was extracted. The genomic DNA was sent to Germany country for Whole Exome Sequencing (WES). A panel of genes related to LGMD pathogenesis consists of The Anoctamin 5(ANO5), Calpain 3(CAPN3), Caveolin 3(CAV3), Dystroglycan 1(DAG1), DnaJ heat shock protein family (Hsp40) member B6(DANJB6), Dysferlin (DYSF), Fukutin related protein (FKRP), Fukutin (FKTN), Lamin A/C (LMNA), Myotilin (MYOT), Plectin (PLEC), Protein O-linked mannose N-acetylglucosaminyltransferase 1(POMGNT1), Protein O-mannosyltransferase 2(POMT2), Sarcoglycan Alpha (SGCA), Sarcoglycan Beta (SGCB) and Protein O-mannosyltransferase1(POMT1) genes were analyzed by PCR and Next Generation Sequencing of both DNA strands of the entire coding region and the highly conserved exon-intron splice junctions. NGS was done after Enrichment target areas by NimbleGen Sequence Capture Array (Roche, Madison). The results of NGS were analyzed based on reference genomes and databases including 1,000 genomes, Human Gene mutation Database (HGMD) and NCBI dbSNP. Pathogenicity prediction of these varieties was carried out by sifting mutation taster and Align-GVGD devices. Then new alternations were confirmed in her parents by Sanger sequencing. Moreover, MLPA kit used for large genomic deletions or duplications was performed to confirm the deletion of exon 2 the Sarcoglycan Beta (SGCB) gene (MRC-Holland MLPA, Lot 0708) ().
Ethics approval was not required but the consent form was received of patient and her parents.
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pmc-6379833-1
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A 58-year-old male who is known to have type 2 diabetes mellitus (DM) presented to the emergency department (ED) with fever, vomiting, scrotal pain and swelling. After being thoroughly evaluated in the ED, the patient was clinically diagnosed with Fournier’s gangrene. Intravenous (IV) fluid resuscitation was initiated, IV antibiotics were given, and the surgical team (including urology and plastic surgery) was consulted.
The patient was shifted to the operating room (OR) where debridement was done by urology team (Figure 1 ). The testes were temporarily relocated to the anteromedial side of the thighs in order to achieve an optimum scrotal wound closure (Figure 2 ).
Following that, he underwent surgical debridement of the scrotum and penis four times, and vacuum-assisted closure (VAC) was applied to enhance wound healing (Figure 3 ).
A healthy granulation tissue was formed over the wound within one month of serial debridement. Repositioning of the testes to their natural position was done and they were both sutured together by absorbable sutures. A split-thickness skin graft was used in three units to reconstruct the defect in the penis and inguinal area. The bagging technique was done by harvesting the skin from the back and was applied from the base of the penis and brought into the frontal part of it. The testes were approximated at the midline and were attached together with small sutures (Figure 4 ).
After that, a mini abdominoplasty was done to the patient for a more enhanced shape and satisfactory result. A near normal appearance and satisfactory result was achieved after two months and patient was discharged home with good urological and sexual function (Figure 5 ). The patient was reassessed one year following the surgery and was satisfied and with no complications.
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pmc-6379854-1
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The patient was a forty-five-year-old man who worked at a soybean paste making factory. He had no specific past or family history. While working with a soybean milling machine, his clothing became entrapped by the mixing rotator (). His clothing was wound around the rotator and tightened around his neck and chest, causing strangulation and a loss of consciousness. He was rescued by coworkers and transported to our hospital by a physician staffed helicopter. Upon arrival, his vital signs were as follows: Glasgow Coma Scale, E4V4M6; blood pressure, 128/80 mmHg; pulse rate, 78 beats per minute; respiratory rated, 16 breaths per minute, peripheral oxygen saturation on 10 liters of oxygen per minute with a reservoir mask, 100%; and temperature, 35.8°C. A physiological examination revealed multiple petechiae on his face and strangulation marks with subcutaneous hemorrhage on his neck and upper trunk (). In addition, he had motor weakness of the right upper extremity and bilateral paresthesia from C5 to Th1. Chest roentgenography, electrocardiography, whole body computed tomography, and cervical magnetic resonance imaging revealed no specific findings. The results of blood biochemical analyses on arrival revealed leukocytosis (16,800/μL) and rhabdomyolysis (creatine phosphokinase, 723 IU/L). He was admitted for observation. After the patient's creatine phosphokinase level peaked and his focal neurological signs improved, he was discharged on foot on the 6th hospital day.
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pmc-6379858-1
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A 22-year-old female was brought to the hospital with the complaint of vomiting, generalized weakness, and two episodes of witnessed generalized tonic-clonic seizures 24 hours prior to the time of admission. She had about 5 episodes of nonbloody nonbilious vomiting. She was nonverbal at baseline but was reported to be more lethargic than usual and had a poor oral intake for the last 2 days and appeared to be in pain. Review of the system was negative for any previous episodes of seizures in the past, fever, diarrhea, abdominal pain, history of diuretic or laxative abuse, any periorbital puffiness, and extremities swelling. She was given lorazepam followed by successful resolution of seizures.
On physical examination, she was having borderline low blood pressure close to her baseline (105/56) with HR of 80, RR 18, O2 sat. 100% on room air. Systemic examination was otherwise unremarkable without any overt signs of dehydration.
EKG showed U waves and nonspecific T wave changes. Pertinent labs showed serum blood urea nitrogen (BUN) and creatinine (Cr) of 16 and 0.77, respectively. Serum electrolytes showed serum sodium (Na) of 150 mEq/L, serum potassium (K) of 1.4 mEq/L, serum magnesium (Mg) of 2.8 mg/dL, and serum bicarbonate (HCO3) of 35 mEq/L. Urine electrolytes included urine K 22 mEq/L, urine Na 121 mEq/L, and urine Cl 146 mEq/L. Her transtubular potassium gradient (TTKG) was 6.82. Complete blood count and liver function panel were within normal limits. Plasma renin activity (PRA) was 0.33 ng/ml/hr, serum aldosterone/K ratio of 1/1.4, and aldosterone/plasma renin ratio of 3. Differential included primary hyperaldosteronism, vomiting, and Bartter/Gitelman syndrome.
EEG showed abnormal epileptiform activity in the brain consistent with seizure. Low normal BP, high urine Cl with urine Ca, and history negative for laxative/diuretic intake made GS the more likely differential. Later on, biallelic identification of inactivating SLC12A3 mutation confirmed the diagnosis of GS.
Patient's condition improved with aggressive K replenishment and antiepileptics in the medical ICU. She was later discharged in a medically stable condition and advised to follow-up with nephrologist and neurologist as an outpatient.
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pmc-6379860-1
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A 63-year-old man presented in August 2017 with moderate pancytopenia associated with hemolysis []. The blood results were Hb 8.5 g/dL, MCV 103 fL, WBC 3.2 × 109/L, platelets 128 × 109/L, reticulocytes 321 × 109/L, LDH 3462 U/L, reduced haptoglobin <0.01 μmol/L, ferritin 461 ng/mL, total bilirubin 4 mg/dL, creatinine 142 g/L, and normal value of folate and vitamin B12. Clinically, he presented fatigue and cholecystitis.
The patient was diagnosed in 2007 as myelodysplastic syndrome with excess blasts (MDS-EB) followed in another centre. In 2009, the patient evolved acute myeloid leukemia (AML) treated with classic induction therapy idarubicin and cytarabine and consolidation therapy followed by allogeneic stem cells transplantation in 2010 with matched unrelated donor (MUD) achieving a complete remission with complete donor chimerism. In November 2016, he presented a moderate anemia (Hb 10 g/dL), treated with darbepoetin alfa. The aspiration was impossible. The bone marrow biopsy specimen was normocellular with dysmyelopoiesis but without blasts. The annual follow-up at the allotransplant centre showed chimerism of donor as 22% in July 2017. In August 2017, the flow cytometric analysis of peripheral blood cells revealed 96.2% of PNH clone type III. Another control of bone marrow biopsy specimen in September 2017 showed erythroblastic hyperplasia without blasts. Therefore, the diagnosis was paroxysmal nocturnal hemoglobinuria (PNH). The patient began therapy with eculizumab, and prior to this treatment, he required 3 transfusions of packed RBCs. The patient was vaccinated against Neisseria meningitidis 2 weeks before the start of treatment. Eculizumab therapy began in October 2017 with an induction dose of 600 mg × 2 intravenous (iv) weekly for 4 weeks followed by a single dose of 900 mg (iv) after 7 days, then 900 mg iv every 15 days. Seven months later, the patient continues eculizumab without bleeding or thrombosis signs and with a stable value of hemoglobin (9-10 g/l). He presents a reduction of hemolysis index and a good quality of life. In molecular analysis, we found JAK2 V617 F mutation with an allelic frequency of 44%, and the NGS study revealed a frameshift mutation of TET2 with an allelic frequency of 34%. The patient is very closely followed up for an imminent relapse. During preparation of this manuscript, the patient relapsed with a diagnosis of AML.
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pmc-6379869-1
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A 41-year-old woman with refractory hypothyroidism was referred to our hospital. She was diagnosed with Graves' disease with thyrotoxicosis at the age of 36 years (thyroid weight: 51.1 g, TSH: <0.001 μU/mL (reference range; 0.4 to 4.0), FT3: 21.85 pg/mL (reference range; 2.36 to 5.00). FT4: 4.00 ng/dL (reference range; 0.88 to 1.67), TSH receptor antibody (TRAb) 22.7 IU/L (reference range; < 2.0)). Neither methimazole, iodine potassium, nor three times of 131I ablation therapy ameliorated thyrotoxicosis. At the age of 39 years, she underwent total thyroidectomy, and oral LT4 replacement was initiated after surgery. Although the dose of LT4 was increased to 650 μg/day (11.8 μg/kg/day), with 150 μg/day of liothyronine (LT3) also being administered, severe hypothyroidism persisted.
She had general fatigue, mild diarrhea, anasarca, hair loss, peripheral coldness, and dry skin. She was hospitalized for further examination to exclude malabsorption.
She was 161.6 cm in height and 55 kg in weight and had a body temperature of 36.3°C. Physical examinations showed a blood pressure of 101/67 mmHg with a heart rate of 56 beats/min, and laboratory findings revealed anemia, mild renal dysfunction, and hypercholesterolemia. Her serum TSH levels were extremely high as 146.8 μIU/mL and FT3 and FT4 levels were undetectable (). Glucose tolerance (fasting plasma glucose of 71 mg/dL and HbA1c of 5.4%) and adrenal and pituitary hormone levels were within normal ranges. Autoimmune antibodies other than thyroid peroxidase antibody (TPOAb) were all negative (). Ultrasonic cardiography showed pericardial effusion with normal cardiac output, and electrocardiography revealed a very low voltage and mild bradycardia (data not shown). She was not receiving any concomitant medication that may have interfered with the absorption or metabolism of LT4 []. Her serum albumin levels were within normal range, suggesting no evidence of malabsorption (). Moreover, anemia and hypocalcemia prior to admission to our hospital were successfully treated by the administration of iron and calcium, respectively. Helicobacter pylori and other gastrointestinal tract infections were negative. A stool examination was normal. Upper and lower gastrointestinal endoscopies were performed and were also normal. Duodenal biopsy was performed and did not show pathological abnormalities consistent with malabsorptive disorder. After her admission to our hospital, the patient was handed LT4 tablets by nurses every morning; however, her intake was not confirmed.
Since the additional rectal administration of LT4 suppository preparation (100 μg/day) did not ameliorate hypothyroidism, we attempted its intravenous administration to treat refractory hypothyroidism under the permission and approval of the Ethical Committee of Tokyo Medical and Dental University Hospital and written informed consent was obtained from the patient and her father. An intravenous LT4 formula was dispensed in the Department of Pharmacy of the Tokyo Medical and Dental University hospital, following a previously reported prescription []. In brief, LT4 sodium salt pentahydrate (Sigma-Aldrich T2501, #6106-07-6) was dissolved by 0.1 N NaOH solution and diluted to a concentration of 200 μg/2 mL by saline. A total of 300 μg of LT4 was then diluted in 50 mL of saline and administered to the patient by intravenous drip infusion in 15 min. Since the patient had suffered from severe hypothyroidism for a long time, we did not really know whether her adrenal function was potentially normal or not. Therefore, prior to the intravenous administration of LT4, we administered 100 mg/day of hydrocortisone (HDC) in an intravenous drip to avoid relative adrenal insufficiency caused by rapid increases in thyroid hormone levels. Six days after the daily intravenous administration HDC, her thyroid hormone levels markedly improved. Therefore, we tapered oral administration of LT4 to 200 μg/day and intravenously a bolus of LT4 was administered (100 μg/day). Following the intravenous administration of a single bolus of LT4 (100 μg/day), her serum FT4 levels were rapidly and markedly increased in 1 hour (). At the time of discharge, we decided to administer 200 μg/day of LT4 orally without the intravenous administration. Since we had already administered 100 mg/day of HDC in an intravenous drip for 10 days, we tapered oral administration of HDC to 20 mg/day upon the discharge. However, 7 days after her discharge, her thyroid hormone levels markedly decreased under the prescription. Thus, in the outpatient clinic, we administered 300 μg of LT4 by intravenous bolus injection weekly for several weeks. Then, we examined the time course of serum FT4, FT3 and TSH levels for optimization (). Serum FT4 and FT3 levels increased within 3 days of the administration and deceased thereafter (Figures and ). Within seven days following the bolus intravenous administration, serum FT4 and FT3 levels remained mostly within normal range. Serum TSH levels increased again 14 days after the intravenous administration of a bolus of LT4 (300 μg) in accordance with the decreases observed in serum FT4 and FT3 levels (). Based on these results, we selected the weekly intravenous administration of LT4 (300 μg). Since then, her serum FT4 and FT3 levels had been maintained as low-normal with the weekly intravenous administration of LT4 for 14 months, whereas serum TSH levels had vary (). At the time of the intravenous bolus administration of high dose LT4 (300 μg) in the outpatient clinic, since HDC administration was already started, we decided to administer 20 mg/day of PSL orally instead of increasing the dose of HDC to avoid relative adrenal insufficiency. However, no symptom of adrenal insufficiency was found and her plasma ACTH and serum potassium levels decreased, possibly due to the administration of PSL. Therefore, we tapered the dose of PSL to 10 mg/day in a month after the onset of the weekly intravenous administration of LT4 (300 μg). Thereafter, we carefully tapered the daily doses of PSL by 1 mg per month to avoid steroid withdrawal syndrome and subsequently withdrew PSL administration ().
Twelve months after weekly intravenous administration of LT4 (300 μg), her hemoglobin levels increased, while serum creatinine, low-dense lipoprotein cholesterol, creatine kinase, and prolactin levels decreased to the normal range. No liver dysfunction or cardiovascular events were detected (). Under oral administration of 200 μg/day of LT4, we attempted the intravenous administration of LT4 (300 μg) once in two weeks, which resulted in the relapse of severe hypothyroidism, suggesting the pseudomalabsorption of LT4 due to poor compliance (). We then attempted the single oral bolus administration (1400 μg) under direct observation instead of the weekly intravenous administration of LT4 [, ]. The dose of LT4 selected was 7-fold the usual daily dose, which was 200 μg/day [, ]. Following the oral administration of a single bolus of LT4, her serum FT4 levels rapidly elevated within 2 hours (0.52 to 4.56 ng/dL) as shown in . Her serum FT4, FT3, and TSH levels were maintained within normal range for 15 days after the single bolus oral administration, and hypothyroidism relapsed thereafter (). Based on the results, we employed 700 μg of LT4 for a weekly oral administration protocol, which was 100 μg of LT4 daily, because when we administered 1400 μg of LT4, her FT4 levels after 2 hours were extremely high, which were clearly harmful and had remained elevated for more than one week. Under the weekly oral administration of 700 μg of LT4, her serum FT4 and FT3 levels were elevated for 2 hours (FT4: 0.96 to 1.36 ng/dL, FT3: 1.41 to 1.56 pg/mL), and TSH levels decreased (52.8 to 48.6 μIU/mL) without liver dysfunction or electrocardiogram abnormalities (). Her serum FT4 and FT3 levels were maintained within normal ranges for 8 days after the single bolus oral administration, which demonstrates the relevance of the weekly oral administration of 700 μg of LT4 ().
Six months after the weekly oral administration of LT4, her renal and liver dysfunction and lipid profile improved (). We concluded that she developed severe hypothyroidism due to poor compliance to the daily oral LT4 replacement, even though she denied the poor compliance. Shi is currently being followed up at the psychiatric clinic. To date, her euthyroid status is maintained under the weekly oral administration of LT4 (700 μg) for two years.
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pmc-6379875-1
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The patient is a 26-year-old male with a history of situs inversus totalis, double-outlet right ventricle with a ventricular septal defect, and pulmonary atresia, a type of tetralogy of Fallot (TOF). He underwent multiple corrective surgeries including biventricular repair in 1993 and tricuspid valve repair, residual ventricular septal defect (VSD) closure, and right ventricle (RV) to pulmonary artery (PA) homograft in 1997. Subsequently, he underwent a redo replacement of the pulmonary valve utilizing a cryopreserved pulmonary homograft with a size of 29 mm due to dysfunctional pulmonary homograft in 2010. A small residual ventricular septal defect with a restrictive left to right shunt (peak end -systolic gradient of 42 mmHg) and moderate tricuspid regurgitation with a peak gradient of 27 mmHg were noted in the echocardiogram. He had severe biventricular dysfunction (left ventricular ejection fraction < 25%, ) with frequent heart failure admissions requiring intermittent inotropic support, and he was on the waiting list for heart transplantation.
The right heart catheterization showed low resistance (pulmonary vascular resistance index (PVRI) 1.3 Wood units (WU)), and shunt calculation showed a normal pulmonary flow (Qp) to systemic flow (Qs) ratio (Qp : Qs was 1 : 1). Both the inferior vena cava (IVC) and superior vena cava (SVC) were draining to the left-sided atrium. He also had intra-atrial reentry tachycardia with a ventricular rate of 117 beats per minute in 2012 and had external synchronized cardioversion once. He was considered for an electrophysiology study and ablation of the intra-atrial reentry tachycardia, but there was no significant change in his LVEF after cardioversion, and later on, he went into atrial fibrillation (AF) with a controlled ventricular rate. He was on anticoagulation with warfarin. An electrocardiogram (ECG) showed AF and right bundle branch block with a QRS duration of 164 milliseconds (ms) (). He had premature ventricular complexes (PVCs) and runs of nonsustained ventricular tachycardia (VT) up to 5 beats at 187 beats per minute documented in telemetry and 24-hour Holter monitoring ().
His other medical problems included acquired perforating dermatosis, folliculitis (hair follicle abscess), and bilateral lower limb varicose veins. His skin swab was positive for a methicillin-resistant Staphylococcus aureus (MRSA).
The case was discussed in the cardiology meeting, and it was felt that he has a high risk of ventricular arrhythmias and SCD. It was also decided that S-ICD would be the best option for him considering his anatomy with residual VSD and a high risk of infection due to folliculitis and positive MRSA which may put him at risk of infective endocarditis with a transvenous implantable cardioverter defibrillator (TV-ICD). The S-ICD ECG screening showed only an alternate vector to be acceptable in the supine and sitting positions ().
The risks, benefits, and alternative of the procedure were all discussed with the patient including the risk of inappropriate ICD shocks. He agreed to the procedure, and informed consent was obtained.
The patient underwent S-ICD implantation (Emblem S-ICD (model A209) and S-ICD electrode (lead) (model 3401), Boston Scientific, Marlborough, MA) on the right side of the chest in December 2016. The pulse generator was placed at the right midaxillary line between the 5th and 6th intercostal spaces, and the S-ICD electrode was placed on the right parasternal area utilizing the standard intermuscular three-incision technique. Careful attention was made to avoid sternal wire contact with the S-ICD electrode.
The S-ICD analysis at the end of the procedure revealed acceptable three sensing factors (primary, secondary, and alternate) (). Defibrillation threshold testing was not performed due to the concern of severe biventricular dysfunction. There was no T-wave oversensing with a limited exercise test on the first-day post device implantation. The chest X-ray showed an acceptable lead and device position (). The patient made a good recovery with no complication related to the procedure.
During the follow-up period of 22 months, he had no sustained ventricular arrhythmia, and he did not have any appropriate or inappropriate ICD shocks.
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pmc-6379877-1
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A 51-year-old female patient was admitted about 4 years ago to the emergency room for nausea, vomiting, dizziness, melena, and syncope. The patient's history indicated upper gastrointestinal bleeding, and immediate esophagogastroduodenoscopy (EGD) revealed an ulcerating tumor in the pyloric antrum with blood oozing, strongly suspected for a gastric GIST. Haemostasis was achieved after endoscopic injection of epinephrine and subsequent adequate blood transfusion due to haemorrhagic shock led to the stabilisation of the patient. The histological diagnosis was ulcerating epitheloid GIST (). Immunohistochemically, tumor cells were strongly positive for CD117, platelet-derived growth factor receptor-alpha (PDGFRA), discovered on GIST-1 (DOG1), and Bcl-2. CD34 was not evident. The mitotic rate was 8/50 high-power fields (HPF), and the Ki67-index/proliferation rate was estimated at 5%. The molecular pathological examination showed duplication in exon 11 of the KIT gene. The abdominal computed tomography (CT) scan showed no lymph node, liver, or bone metastasis. The pT2 M0 R0 (TNM classification) staged tumor was operated successfully with an open 2/3 stomach resection with a Roux-en-Y anastomosis and jejunojejunostomy. The 3.5 cm tumor was completely excised with edges clear of infiltration and no tumor infiltration of the serosa. The postoperative course was very satisfactory with no sequelae, and no adjuvant imatinib therapy was administrated after multidisciplinary treatment planning. The patient could be discharged 3 weeks after admission with the recommendation for abdominal (CT) scan and EGD every 6 months for the next 5 years.
15 months later and in the scope of the follow-up examination, the patient complained for discomfort and slight pain in the right upper abdomen. The abdominal ultrasonography revealed multiple liver metastases, and the EGD confirmed a recurrence of GIST in the anastomosis. The abdominal and chest CT scan () confirmed diffuse liver metastases and revealed an encircling wall architecture of the GIST around the hepatic hilum with a partial obstruction of the common bile duct and a shifting of the portal vein without signs of portal vein thrombosis. However, no icterus was present. The CT scan revealed furthermore a suspected large thrombus in the IVC and right atrium. There was no evidence of lymph node, bone, or lung metastasis. The transthoracic (TTE) and subsequent transoesophageal echocardiography (TEE) disclosed the presence of a 5.3 × 3.4 cm large mass in the right atrium with diastolic prolapsing through the tricuspid valve, without any clear attachment to the atrial wall, with an inhomogeneous appearance, and without vacuolisation (), along with a similar 1.1 cm large mass in the IVC () with a suspected but no clear continuation between these two masses even after free style image acquisition. The patient denied any angina or dyspnoea. Anticoagulant therapy with low molecular weight heparin showed no improvement within few days, ruling out a thrombus formation and suggesting intracardiac metastasis. Due to recurrent electrocardiogram (ECG) alternations in the precordial leads suggestive of intermittent lung embolism, the imminent right ventricular diastolic flow obstruction with a resulting obstructive form of a cardiogenic shock, and because of the young age of the patient and the potential good response to imatinib therapy, she was referred to a cardiothoracic clinic.
The patient underwent cardiac catheterization which revealed no obstructive coronary atherosclerotic plaque. Prior to surgery, cardiac magnetic resonance imaging () verified the cardiac findings of echocardiography but also clearly exhibited a propagation of a liver metastasis as a continuous mass to the IVC and right atrium with no adherence to the cardiac wall. Surgical resection of the tumor in the right atrium and IVC was performed using a minimally invasive anterior lateral access approach supplemented with video-assisted thoracoscopy. The 50 × 60 mm resected tumor with endothelial infiltration of the IVC, concomitant local thrombosis (), and no endocardial and myocardial infiltration of the right atrium was histologically and immunohistologically identical to the prediagnosed GIST () and was a contiguous extension of a liver metastasis to the heart. The patient could recover from the operation and was treated with 400 mg imatinib daily. However, a week after surgery, transthoracic echocardiography () revealed a new mass in the right atrium indicative of early recurrence. The patient deteriorated over time due to a further progression of the GIST with icterus. The course was furthermore complicated by Staphylococcus aureus sepsis due to central venous catheter infection, and the patient finally died due to multiorgan failure.
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pmc-6379881-1
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A 60-year-old lady, who was a hypertensive patient under irregular medication, presented with mild-to-moderately-severe headache episodes for four days for which she did not seek medical attention. This was followed by sudden onset severe headache for one day prior to presentation in our emergency room (ER). Headache was holocranial and associated with vomiting. There was no history of trauma, fever, seizures, weakness of limbs, or loss of consciousness. She was not a diabetic and did not have any addictions.
When she presented to our ER, her Glasgow Coma Scale score was 15 and did not have any neurological deficits (World Federation of Neurosurgical Societies grade I). She underwent plain Computed Tomogram (CT) scan of the brain, which showed subarachnoid hemorrhage (SAH) in the left sylvian fissure and interhemispheric fissure (Modified Fisher grade 1) (). Suspecting an aneurysmal SAH, she was admitted in neurosurgery intensive care unit and was started on antiedema measures, anticonvulsant, analgesic, and Nimodipine.
The next day, she underwent CT cerebral angiogram, which revealed a bilobed anterior communicating artery aneurysm, projecting anterosuperiorly and measuring 8 × 7 × 5 mm in size (). There was no evidence of any other aneurysms or vascular malformations. On the fourth day of ictus, she underwent right pterional craniotomy and clipping of aneurysm.
Intraoperatively, the sphenoid drilling and craniotomy were uneventful. After exposure of the aneurysm, there was controlled rupture during permanent clipping with a blood loss of around 20 ml and temporary clipping was not required. Papaverine was not instilled. Since the brain was slightly full at the end of surgery, the bone flap was not replaced. She was extubated postoperatively on table and was fully conscious.
Three hours after the surgery, she started developing right sided ptosis, which progressed into complete right sided oculomotor nerve paralysis with dilated and nonreacting pupil. An emergency CT scan of the brain was taken which revealed only postoperative changes (). There was no hematoma in the basal cisterns or infarct. But her oculomotor nerve palsy persisted and was painful (). Her further postoperative period was uneventful, pupillary reaction to light started to appear, and pain started to disappear by day 7. But pupillary size remained the same (). She was discharged on the eighth postoperative day. On follow-up after one week, a Magnetic Resonance Imaging scan of the brain with venogram was done to rule out any infarct or thrombosis of the cavernous sinus. But it turned out to be normal. She was kept under regular follow-up in our outpatient department. Nimodipine was continued for a total of 21 days following the ictus. On review at the end of one month, her ocular movements were normal except for impaired adduction and pupils were normal in size and reaction, but complete ptosis was persisting. On the 61st postoperative day, her ptosis suddenly disappeared on waking up and when she came for follow-up in outpatient department, her ONP had fully recovered ().
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pmc-6379924-1
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An 80-year-old Caucasian female was referred for left renal mass and multiple expansile bone lesions resulting in back and chest wall pain in September 2016. She had a history of in situ high-grade papillary transitional cell carcinoma of the urinary bladder, status post radical cystectomy and pelvic lymph node dissection in May 2012. She underwent left renal mass biopsy which revealed invasive urothelial carcinoma. She received first-line palliative chemotherapy with gemcitabine and carboplatin along with palliative radiation therapy for pain control. Subsequently she also received denosumab, a bone modifying agent, for symptomatic bone metastases after dental evaluation. Due to progressive disease, she started second-line systemic treatment from December 2016 with atezolizumab 1200 mg intravenously over 60 min every 3 weeks, an inhibitor of programmed cell death ligand 1 []. She tolerated atezolizumab well but developed progressive disease in May 2017. At the end of atezolizumab treatment course, she developed clinically significant hypothyroidism with cold intolerance, insomnia, constipation and extreme fatigue in the setting of elevated thyroid stimulating hormone (TSH) level to 21 uIU/mL (reference range 0.8–7.7 uIU/mL). Therefore, she was started on levothyroxine, and her symptoms resolved with normalization of TSH.
Afterwards she was enrolled to a phase II study (ClinicalTrials.gov Identifier: NCT02465060) and underwent tumor biopsy at sternum for next-generation sequencing assay which revealed an actionable mutation at FGFR3. She received AZD4547 80 mg orally twice a day from June 2017 on clinical trial. After 2 months of AZD4547 treatment, she experienced recurrent hypothyroidism symptoms, and was hospitalized twice for small bowel obstruction responding to medical treatment. Her TSH level at that time was significantly increased to 2957 uIU/mL, and daily levothyroxine dose was increased from 50 to 100 mcg accordingly. Her thyroid function returned to normal 1 month afterwards, and she did not experience recurrence of small bowel obstruction.
She achieved stable disease on AZD4547 for approximately 6 months prior to development of progressive disease. She progressed through subsequent lines of treatment with cisplatin and docetaxel and finally pemetrexed before succumbing to disease in June 2018.
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pmc-6379930-1
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A 44-year-old Caucasian man, a construction worker in an urban area, married and with two children, with no past medical history, previous treatment, or toxic habits, presented 1 week before entering the hospital with general weakness and respiratory difficulty that gradually increased in intensity, accompanied by cough without expectoration. He had also experienced recent fever (38.9 °C, 102.0 °F) and some episodes of vomiting and diarrhea. He was admitted to the ICU with a diagnosis of community-acquired pneumonia and respiratory failure. At the time of admission to the ICU, the patient was conscious, oriented, and collaborative, without presenting any neurological alteration. The patient was febrile (38 °C, 100.4 °F) and tachycardic (heart rate 110 beats/min), his blood pressure was 120/80 mmHg, and he was tachypneic (28 breaths/min), without intercostal print, with an oxygen saturation of 88% with a Ventimask (Flexicare Medical, Mountain Ash, UK) at 50%. Lung auscultation showed conserved vesicular murmur and basal and midfields bilateral crackles. His heart sounds were regular, rhythmic, and without murmurs. No heart failure data were recorded. We observed a soft and depressible abdomen with peristalsis present, without visceromegalies. The patient’s lower limbs were without edema and had symmetric palpable peripheral pulses. Empiric antibiotic treatment was started with ceftriaxone (2 g/24 h, 7 days), levofloxacin (500 mg/24 h, 7 days), and oseltamivir (150 mg/12 h, 5 days), and 24 h after the admission, the patient was diagnosed with influenza A(H1N1) pneumonia after the virus was isolated in the nasopharyngeal swab samples taken at admission by PCR (DNA isolation). In the patient’s medical history, he did not highlight any history of toxic habits; information on medication taken regularly or any drug allergies was not recorded.
The patient required mechanical ventilation, and his initial evaluation was favorable with stable hemodynamics. On day 12 of the admission, he developed acute severe hypotension (systolic blood pressure < 80 mmHg) with tachycardia (heart rate > 140 beats/min) and a markedly worsening respiratory status. Arterial acid-base balance at that time showed fraction of inspired oxygen 60%, pH 7.39, partial pressure of carbon dioxide 26.7 mmHg, partial pressure of oxygen 55.9 mmHg, bicarbonate 15.9 mmol/L, base excess − 8.1, lactic acid 0.9 mmol/L, and oxygen saturation 91.2%. The patient’s respiratory status failed to respond to high-dose vasopressors and ventilatory support. The laboratory findings at that time showed the following: red blood cells 3.4 × 106/mm3, hemoglobin 9.7 g/dl, mean corpuscular volume 96.5 fl (normal reference value 80–100), average corpuscular hemoglobin 28.5, leukocytes 14.8 × 103/mm3 (normal reference value 4.5–11.1 × 103), 74.9% neutrophils, 14.8% lymphocytes, international normalized ratio 1.29, basal glucose 155 mg/dl (normal reference value 65–110), blood urea nitrogen 33 mg/dl (normal reference value 5–20), creatinine 1.10 mg/dl, sodium 145 mEq/L, potassium 3.9 mEq/L, troponin I 0.022 ng/dl, (normal reference value < 0.034), D-dimer > 10,000 ng/ml (normal reference value < 500), and C-reactive protein > 90 mg/L (normal reference value 0–12).
The cultures of the bronchial secretion (sputum of the patient) and of urine and blood (direct puncture of a peripheral artery) were negative for both aerobic and anaerobic bacteria, as were urine antigens for Pneumococcus and Legionella. An anteroposterior chest radiograph showed right basal infiltrate (Fig. a). To determine the cause of this acute hemodynamic instability and facilitate patient management, TTE was performed for a differential diagnosis of hypovolemia, acute LV or RV dysfunction, cardiac tamponade, aortic dissection, severe valvular regurgitation, dynamic LV outflow tract obstruction, or PE. Poor-quality images were obtained, necessitating the completion of the study with TEE.
TEE demonstrated a small and hyperdynamic LV and a severely dilated and dysfunctional RV. In the midesophageal four chambers view with TEE, the RV end-diastolic area to LV end-diastolic area ratio was 1.7 (normal reference value < 0.6), and the RV end-diastolic diameter to LV end-diastolic diameter ratio was 1.4 (normal reference value < 0.9). TEE also showed McConnell’s sign, normokinesia of the RV apical segment, and akinesia of the RV mid-free wall (Fig. a, Additional file 1) and a systolic flattening of the interventricular septum (Fig. b, Additional file 2), suggesting RV pressure overload. There was no evidence of a thrombus either on the right side of the heart or in the pulmonary arteries. These findings of acute RV failure due to pressure overload raised the possibility of a PE or RV myocardial infarction []. A 12-lead electrocardiogram showed T-wave inversion in leads V1 to V4 and an S1Q3T3 pattern without abnormalities in the ST segment (Fig. c). The combined use of electrocardiography and TEE in this clinical setting suggested a high probability of PE. The unfavorable hemodynamic situation of the patient prevented transfer to carry out other complementary tests that could confirm the diagnosis of PE. Fibrinolytic and anticoagulant therapies were administered immediately, achieving a favorable clinical outcome.
Twenty-four hours later, with the patient stable from a hemodynamic and respiratory point of view, computed tomography (CT) pulmonary angiography showed multiple filling defects in both the pulmonary artery and bilateral lobar arteries; this outcome is consistent with PE and peripheral pulmonary consolidations that were more extensive on the right side with hypodense zones compatible with areas of hypoperfusion (Fig. a). The diagnosis of PE was confirmed. The patient continued with anticoagulant and antibiotic treatment during admission, progressing favorably from both a hemodynamic and respiratory point of view. Mechanical ventilation was removed on the 27th day. After 11 days of admission, he showed acute renal failure secondary to the nephrotoxic effects of tobramycin, with subsequent normalization of renal function on the 31st day of admission. After completing approximately 2 weeks of rehabilitation, on the 45th day after admission, the patient was discharged without complications. He achieved normalization of the chest x-ray (Fig. b) and normalization of RV morphology (Fig. b, Additional file 3) and functionality (Fig. c). Three years and five months after discharge, the patient remained free of symptoms and was living a normal life.
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pmc-6379935-1
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A 33-year-old woman presented with an elastic, non-tender mass over the right parotid area for 6 months. The patient had no significant past medical or surgical history. Physical examination showed a 3-cm round, palpable, immobile mass over the right parotid area. The overlying skin showed no sign of inflammation. There was no facial paralysis or cervical lymph node enlargement. Computed tomography of the head and neck with contrast revealed a 3.7 × 2.7 cm round mass over the right parotid gland with heterogeneous enhancement. There were some subcentimeter non-specific lymph nodes over bilateral level Ib and II. Preoperative fine needle aspiration (FNA) was performed and the smears were moderately hypercellular, with small to large cohesive tissue fragments, as well as scattered single cells in the background (Fig. a,b). Both the tumor clusters and single cells showed epithelioid morphology with an increased nuclear to cytoplasmic(N:C) ratio, round to oval nuclei, moderate nuclear pleomorphism and a lack of nucleoli (Fig. c). These atypical epithelioid cells were embedded in myxomatous and fibillary matrix with eosinophilic/light purple cytoplasm(Fig. d).No mitotic figures were found and there was no necrosis in the background. A diagnosis of salivary gland neoplasm of uncertain malignant potential (SUMP) was rendered. Right partial parotidectomy was then performed smoothly using an intraoperative neuromonitoring system without damage to facial nerve.
Gross examination of the resected specimen revealed a well-circumscribed, unencapsulated, gray-brown soft tissue mass, measuring 3.5 × 2.1 × 2.0 cm. On cross-section, the tumor was homogenous and tan-brown with occasional small hemorrhagic cysts. In addition, a nodular expansion with indistinct fibrous capsule was found within the tumor, reminiscent of the “nodule-in-nodule” appearance of hepatocellular carcinoma. Microscopically, the tumor had a peripheral low-grade area and a central high-grade area. The low-grade area was predominantly composed of spindle cells with varying cellularity and focal reticular pattern, interspersed with sclerotic stroma, rounded vessels and infiltration of the adjacent tissue(Fig. b). The tumor cells had bland, round to short spindle cell morphology, with minimal cytoplasm and vesicular chromatin. The central hypercellular area was sharply demarcated by thin fibrous septa and comprised enlarged epithelioid tumor cells (Fig. c) with moderate nuclear atypia arranged in a sheet-like pattern with hemangiopericytoma(HPC)-like hyalinizing vessels. Nuclear pleomorphism with hyperchromasia, a high N:C ratio, clumped chromatin, irregular nuclear membrane, and inconspicuous small nucleoli were observed in the high-grade component. There was an abrupt transition between these two components (Fig. a). The mitotic rate was up to 5 per10 HPFs, and atypical mitosis was observed (Fig. c). Angiolymphatic permeation (Fig. d)and infiltrative growth were also present. The resection margins of the tumor involved both the low- and high-grade areas.
Immunohistochemically, the tumor cells were diffusely positive for CD34, STAT-6 and FLI-1, but negative for pan-cytokeratin, CAM5.2, p63, S100 protein, CD31, SMA, and calponin. ERG and Ki67 immunostaining showed an accentuated nuclear staining pattern in the central dedifferentiated area. The Ki-67 labeling index was around 20% in the hypercellular area, and 3% in the loose short spindle cell area. There was no overexpression of p53 or p16.This patient received adjuvant radiation therapy with 70Gy to the right parotid area due to a microscopically positive resection margin (R1) and has been followed-up for 11 months, with no signs of recurrence or distant metastasis.
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pmc-6379993-1
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This is a case report of a 46-year-old female with a past medical history notable for depression, asthma, and uterine leiomyomas who presented to an urgent care with 5 days of progressive abdominal pain, bloating, nausea, and subjective fevers. The patient endorsed a several month history of gaining weight, though she attributed it to her lifestyle, accompanied with strong, intermittent, crampy right lower quadrant pain. The pain was random in onset and would dissipate very quickly. However, 5 days prior to presentation, her pain dramatically increased and was persistent in nature.
Her surgical history included a myomectomy performed 5 years prior followed by a laparoscopic hysterectomy 2 years later. She was a regular drinker, consuming four to five alcoholic drinks per night, but stopped when her symptoms worsened and had no history of withdrawal. Family history was significant for a maternal grandmother with breast cancer, mother with skin cancer, and an uncle with colon cancer.
Upon arrival to the emergency room, the patient was tachycardic, mildly hypotensive, and febrile to 103 °F. Her abdomen was soft, distended, and diffusely tender without peritonitis. Labs were notable for a leukocytosis of 15 K. CT of the abdomen and pelvis demonstrated moderate volume, complex fluid within the abdomen and pelvis with extensive amount of gas and peripheral rim enhancement, a thickened appendix filled with fluid, and a soft tissue/cystic lesion in the anterior abdominal wall (Fig. ).
Differential included pseudomyxoma peritonei with a ruptured appendiceal mucocele versus PMP secondary to an adnexal ovarian neoplastic pathology with an infectious component. Per the radiology report, the origin was unclear based upon imaging and stated a ruptured adnexal cyst should be considered given the markedly enlarged septated cystic lesions in the pelvis. The patient was resuscitated, and her blood pressure and heart rate normalized with 2 L of fluid. Given the patient’s hemodynamic stability, the decision was made to attempt conservative management with antibiotics and interventional radiology (IR) biopsy and drainage.
On the floor, the patient remained hemodynamically stable with intermittent fevers. Her abdominal exam also remained unchanged, with persistent pain that was under control with pain medication. It was unclear if the abdominal wall mass was neoplastic, and given our initial nonoperative approach, a biopsy was performed for tissue diagnosis to properly guide further treatment. A core needle biopsy of the abdominal wall mass demonstrated a uterine leiomyoma implant, and the cytology aspirate of the peritoneal fluid showed pools of acellular mucoid material. On hospital day 7, the patient’s leukocytosis rose to 23 K, and repeat imaging demonstrated a more organized collection with intraperitoneal air in addition to multiple thick, wall-enhancing, complex cystic multiseptated lesions. Given these findings on imaging as well as her clinical presentation, the patient was taken to the operating room (OR) jointly with surgical oncology and gynecology oncology for a peritoneal washout and bilateral salpingoopherectomy. Intraoperative findings included a large amount of mucin in the abdomen and pelvis with a pocket of purulent fluid in the mid-abdomen, a very large (12 cm) cystic left ovary, dilated right fallopian tube with enlarged right ovary, a very dilated and thickened appendix, and dense, diffuse small bowel intraabdominal adhesions (Fig. ). Her peritoneal cancer index (PCI) score was unable to be determined due to the degree of inflammatory adhesions. She underwent bilateral salpingoopherectomy given the amount of inflammation in the cecum and base of the appendix, the decision was made not to perform an appendectomy to avoid leakage at the staple line and further infectious complication. The patient’s abdomen was hostile, and no larger operation was deemed necessary at this time, as the patient was nonobstructed and the origin of PMP was not yet verified. The primary goal of the operation was to clear the infection, with the intent to return at a later date when her intraabdominal contents could be properly mobilized for a complete PCI score and an appropriate oncologic resection could be performed.
Her hospital course was complicated by recurrent pleural effusions requiring multiple thoracocenteses, negative for cytology, and persistent need for supplemental oxygen. She also developed a secondary intraabdominal abscess requiring IR-guided drainage. After the patient clinically improved, she returned to the OR 2 months after her initial presentation for completion cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) with 40 mg of mitomycin-C at a target temperature of 42–43 °C over 90 min, as per our institutional protocol []. Her PCI at the second surgery was calculated to be 13. She had minimal peritoneal adhesions, and her intraabdominal infectious process had completely resolved. The patient underwent an appendectomy, omentectomy, and tumor debulking. The appendicular base was healthy and easily stapled across. The patient was discharged home with lovenox on postoperative day 5, saturating well on room air, tolerating a diet with oral pain medication, and with return of bowel function. Six months after the CRS/HIPEC, the patient had surveillance imaging with no evidence of recurrence (Fig. ). The abdominal wall mass was unchanged from prior imaging and, given the biopsy of leimyoma, presumed to be an implant at the port site from the patient’s prior hysterectomy.
After the discharge from the second surgery, the patient’s postoperative recovery was complicated by new-onset shortness of breath after the completion of her 30 day course of lovenox. She was diagnosed with bilateral pulmonary emboli, with no evidence of deep vein thrombus on lower extremity duplex. Therapeutic lovenox was initiated, and her symptoms gradually improved. An interval angio CT of the chest demonstrated resolution of the clot. Anticoagulation has since been discontinued, and the patient will continue with 6-month interval surveillance imaging for PMP recurrence.
The pathology of the left ovary and tube following the first operation resulted as an ovarian cyst containing mucin pools and low-grade intestinal type mucinous glands, consistent with metastasis from appendiceal mucinous neoplasm. The right ovary and tube showed mucin, acute inflammation, and adhesions. Immunostains were positive for CK7, CK20, and CDX2 and negative for PAX8 (Fig. ). Following the completion cytoreduction, the appendiceal pathology demonstrated a low-grade appendiceal mucinous neoplasm (LAMN) with acellular mucin outside the appendix and associated fibroinflammatory response. The proximal margin, the appendicieal base, was negative for tumor. Additional specimens sent during the debulking included the falciform ligament, omentum, pelvic tumor nodules, and tumor deposits overlying the sigmoid, small bowel, left colon, and liver. All additional specimens consisted of acellular mucin. Pre-operative carcinoembryonic antigen (CEA) and CA-125 were elevated at 26.8 and 101 respectively. CA 19-9 was within the normal limits. Using AJCC (8th ed.) staging, the final staging was determined to be T4a NX M1a (stage IVA). Since the patient had a complete cytoreduction and the pathology was determined to be LAMN, no further adjuvant therapy was given.
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pmc-6379998-1
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The 30-year-old Han Chinese female patient was admitted to our hospital due to symptoms of fatigue and recurrent high-grade fever (> 39 °C) with a 4-month duration. She had presented with cutaneous lymphoproliferative disorders mimicking hydroa vacciniforme since the age of three and was diagnosed with CAEBV at Nanjing Drum Tower Hospital more than 9 months earlier. She experienced a spontaneous abortion 4 months ago. One month before her hospital visit, the patient underwent splenectomy at Nanjing for uncontrolled splenomegaly, and her postoperative pathology diagnosis suggested hypersplenism and EBV infection. She was noted to have oedematous swelling of the cheeks, eyelids and lips, and coexistent skin lesions, liver damage, pancytopenia with white blood cell (WBC) count of 1.90 × 109/L, hypofibrinogenemia, plasma EBV-DNA 3.26 × 103copies/L, EBV-DNA in peripheral blood mononuclear cells (PBMCs) of 5.93 × 104 copies/L, ferritin 1090.7 μg/L, interleukin-6 (IL-6) level of 74.45 pg/mL and soluble interleukin-2 receptor (sIL-2R) level of 2083 U/mL. Her bone marrow examinations failed to identify any abnormal lymphocytes or haemophagocytosis. Peripheral blood cell sorting and EBV-DNA PCR suggested predominant EBV infection with 4.68 × 105 copies per 2 × 105 T lymphocytes and 1.17 × 105 copies per 2 × 105 NK cells. NK cell killing activity decreased to 6.50% (normally ≥15.11%) (Fig. b), and the expression levels of activated CD107a (for assessing NK cell degranulation) decreased to 33.24% (normally ≥40%) (Fig. j). Exome sequencing demonstrated the presence of novel digenic heterozygous STXBP2 (c.592A > C) and LYST (c.830A > T) mutations as well as some variants of unknown significance with HLH (Table , Fig. ). Two-generation pedigree analysis using Sanger sequencing showed that the mutations were inherited from her parents, and NK cell function tests for her parents were conducted as well (Table , Fig. ). We noticed that her mother had an NK cell dysfunction which was even more severe than that of the patient herself, while her father’s NK cell functions were all normal. It still remains unclear why the patient’s mother did not experience any clinical symptoms all the way through, and we formulated our assumption in Discussion and Conclusions section. Because seven of the eight criteria of HLH-2004 were met [], the patient was finally identified to have secondary HLH. X-linked lymphoproliferative disease (XLP) is a secondary disease caused by immunodeficiency-mediated EBV infection. Individuals with XLP-1 are uniquely sensitive to diseases caused by EBV, which otherwise runs a fairly benign course in most healthy individuals. HLH represents 60% of all the disease clinical features while the age of onset is within the range of 0.5–40 years old []. The symptoms of HLH secondary to XLP is very similar to our case. However, the patient in our case cannot be diagnosed with XLP since we found that she and her parents had no SH2DIA or XLP1 mutations via WES and Sanger sequencing tests.
Following diagnosis, the patient was treated with persistent small dose of dexamethasone (0.1 mg/kg·d− 1). We were able to manage the disease in the beginning, with a decreased ferritin level of 5951 μg/L, IL-6 level of 17.78 pg/mL and normal body temperature. However, her condition was out of control one month later with the appearance of recurrent high-grade fever, rising levels of inflammatory factors, macrophage activation syndrome (MAS) and capillary leak syndrome (CLS), and we switched her therapy to the HLH-2004 protocol with etoposide and dexamethasone. DEP regimens (liposomal doxorubicin, etoposide and methylprednisolone) were also provided when HLH relapsed for the second time []. Ferritin levels peaked at 3222.2 μg/L and subsequently began to decline. Currently, the HLH of this patient has been well-controlled for a month and she is currently waiting for haematopoietic stem cell transplantation (HSCT).
For Whole Exome Sequencing (WES), DNA samples were isolated from peripheral blood. The genomic library of the proband was recovered for exome enrichment with Agilent Sure Select Human Exon v7 and was sequenced by Illumina HiSeq2500 with an average 300x coverage. The Broad Institute’s Genome Analysis Toolkit was applied during the data analysis. Reads were aligned with the Illumina Chastity Filter and the Burrows Wheeler Aligner. Variants were identified by the GATK UnifiedGenotyper module. For quality control measures, coverage per base was 351x, and Q30 percentage was 92.71%. For filtering strategy: First, generated variants were locally annotated with Annovar software under Linux system. Next, only mutations affecting amino acid sequence were filtered for further analysis (including missense, nonsense, frameshift/non-frameshift insertion/deletion, splice-site mutation and other complex mutations). Afterwards, variants with frequency in Han population no less than 0.01 were filtered out. Then variants failed to pass quality control (reads < 20, quality< 30, or variants with significant strand bias) were filtered out. The mutated genes were filtered out based on classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS) [, ], and further tested by Sanger sequencing. Splice site variants were taken into consideration in this filter strategy while promoter regions were not. WES study was not performed on the proband’s parents. Only potential pathogenic mutations in Primary Immunodeficiency (PID) associated genes (Table ) of the proband were identified in the proband’s parents using Sanger sequencing.
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pmc-6380005-1
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A 25-year-old female presented to the emergency department (ED) for evaluation of persistent productive cough of yellowish sputum over the last four week and mild exertional dyspnea over the last two years. Her past medical history was unremarkable and she took no regular medications. There was no personal or family history of multiple endocrine neoplasia type 1 (MEN1) syndrome. She was in no distress on presentation to the ED with a resting hemoglobin oxygen saturation of 97% while breathing room air. Her physical examination was remarkable for absent breath sounds and decreased tactile fremitus on the left middle and lower lung fields. No wheezing or stridor were heard. Laboratory data were within normal limits.
A chest x-ray (CXR) in the ED demonstrated opacification of the left middle and lower lung fields, hyperinflation of the right lung and deviation of the trachea to the left (Fig. ). A computerized tomography (CT) scan of the chest showed complete left lung atelectasis due to a mass obstructing the left main bronchus and excessive mediastinal deviation to the left with substantial herniation of the hyperdistended right lung into the left hemithorax (Fig. ). There was no evidence of tracheobronchial narrowing in the right lung or esophageal compression. The mass was well demarcated and of soft-tissue quality, demonstrating homogeneous contrast enhancement, starting 2.8 cm distal to the main carina, measuring 4.4 × 2 × 2.8 cm (Fig. ). Abdominal and head CT scans showed no abnormal findings. The patient subsequently underwent a diagnostic flexible bronchoscopy which revealed a pale hypervascular polypoid mass completely obliterating the left main bronchus which was biopsied using forceps (Fig. ). Histopathological examination of endobronchial biopsies disclosed a carcinoid tumor with a Ki-67 index of approximately 10%.
Following thoracic surgery consultation, an open left pneumonectomy with concurrent complete lymph node assessment and dissection was performed. During surgery, the left lung was found completely atelectatic with adhesions between the pericardium and the left pleura which were dissected. No attempt of repositioning the mediastinum or placement of tissue expanders was performed, due to the absence of airway compression in the right bronchial tree during previous bronchoscopy and CT scan. The patient recovered well after surgery and no complications were noted. Post-operative histopathology disclosed an atypical carcinoid with a Ki-67 labelling index of 10% but no areas of necrosis (Fig. ). There was a radical resection of all tumor with clear operative margins, the periphery of the left main bronchus was infiltrated by tumor, but there was no invasion of the visceral pleura, and no infiltration of resected lymph nodes from lymph node stations 5, 7, 9 and 10 by carcinoid cells.
Pre-operative spirometry was as follows: FEV1: 1.51 lit (44% predicted), FVC: 1.54 lit (39% predicted), FEV1/FVC: 98%. Spirometry and static lung volumes 12 months after surgery were as follows: FEV1: 1.93 lit (58% predicted), FVC: 2.34 lit (61% predicted), FEV1/FVC: 82%, TLC: 3.28 lit (63% predicted), RV/TLC: 118% predicted. Although spirometry appears to be significantly improved after surgery, spirometry before surgery triggered fits of coughing and therefore preoperative values might not be representative.
Postsurgical follow-up has included the following: Initial chest CT scan was carried out 2 months after surgery. Parathyroid hormone (PTH) and prolactin levels were within normal limits 1 year after surgery. The following investigations were carried out at 6 months and then every 6 months for the first 5 years: Chest CT scan, abdominal ultrasound, chromogranin A measurement and standard laboratory testing including complete blood count, renal function, liver function, calcium and glucose. Abdominal CT scan and fiberoptic bronchoscopy were carried out 1 year after surgery and then will be carried out annually for the first 5 years. Bronchoscopy would be performed earlier for any symptoms or imaging findings suggestive of local progression. Repeat chest CT scans after surgery showed no changes in mediastinal rotation compared to those prior to surgery, and no signs of tracheobronchial or esophageal compression. Repeat bronchoscopy showed a normal-appearing surgical stump of left main bronchus and no airway compression of the right bronchial tree. The remaining studies listed above have been normal. The chronic mild exertional dyspnea reported by the patient before surgery completely resolved on hospital discharge, 7 days after pneumonectomy. The patient has been asymptomatic for the last 16 months after surgery with excellent performance status.
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pmc-6380021-1
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A 55-year-old male patient was admitted to our hospital with intermittent chest tightness for 3 months, and his condition has worsened in the past 10 days. Physical examination showed left enlargement of cardiac boundary, and the systolic murmur (4/6 level) could be heard in the auscultation area of the aortic valve. Cardiac color Doppler ultrasound showed aortic valve calcification with moderate to severe stenosis. Sixth days after admission, aortic valve replacement was performed in the patient successfully without ischemia and hypoxia.
On the seventh days of admission, the patient’s consciousness was clear, his limbs were moving well, and he can communicate with his family simply. On the 11th day of admission, the patient was emotionally agitated, with speech disorder, accompanied by eating cough and diplopia. Dysarthria and ptosis in both eyelids were existed. Both eyes abduct was limited. Bilateral frontal lines and nasolabial sulcus remained unchanged. The muscle strength of the extremities was grade 4+, but the tendon reflex of both lower limbs was decreased. Serum anti-GQ1b antibody test was positive, then postoperative concurrent GBS was considered. Intravenous human immunoglobulin (0.4 g/kg) was given for immunomodulation, methylprednisolone ((Manufacturing Belgium NV, 1000 mg) therapy and symptomatic treatment were performed. On the thirteenth day of admission, the patient’s consciousness turned to sleepiness, and his breathing and heart rate were stable, and the Glasgow Coma Scale/Score (GCS) was 12. Magnetic Resonance Imaging (MRI) + Magnetic Resonance Angiography (MRA) showed small DWI high signal near the posterior corner of right ventricle, acute cerebral infarction was considered (Fig. a). On the 16th day of admission, the patient presented with deep coma, poor cough reflex and more sputum. He was given tracheotomy with GCS score of 5 points. The diameter of bilateral pupils is 5 mm, which is slow to reflect light. and the ptosis of both eyelids was existed. Horizontal movement of the eyeball was involuntarily slow. The eyeball hovered and returned from one side to the other horizontally for 3–4 s per cycle (Periodic alternating ping-pong gaze, Additional file : Video 1). The muscle strength of the extremities was grade 0, the tendon reflex of the extremities disappeared and the muscle tension was low. On the 18th day, the video EEG (electroencephalograph) showed that the patient was in a coma, and the brain waves were in the general 6-8 Hz wave and bilateral symmetry, and the voltage was 10–25 microvolts, no abnormal electroencephalogram activity was observed in all leads with 6–8 HZ wave (Fig. b).
The electromyography of the extremities showed that the motor amplitude of the common peroneal nerve of the left lower extremity decreased, the conduction velocity of the right peroneal nerve slowed down, and the conduction velocity of the superficial peroneal nerve of the right lower extremity slowed down. The occurrence rate of F wave of bilateral median nerve, right ulnar nerve, bilateral common peroneal nerve and left tibial nerve was low. On the 19th days, the patients turned into a shallow coma, PPG disappeared and the GCS score was grade 7. The lumbar puncture treatment showed that the pressure was 120 mmH2O, the cerebro-spinal fluid (CSF) protein was 86 mg/dl associated with pleocytosis (8 cells/ml). The patient gradually turned to get consciousness, and the GCS score was 15 on the 25th days after admission. Dysarthria, slow reflex of pharynx and ptosis of the double eyelids existed. Bilateral pupils were large and equal circles, which were sensitive to light reflection. Both eyes were limited in adduction and abduction. Both frontal lines and nasolabial sulcus became shallow. The muscle strength of the extremities was 2 levels, the muscle tension was low, and bilateral tendon reflex was weakened.
Combining with the patient’s typical clinical and laboratory tests, the final diagnosis was anti GQ1b antibody syndrome BBE combined with GBS, accompanied by periodic alternating ping-pong gaze. The patients were discharged from hospital on the thirtieth day because of economic reasons. After 6 months of follow up, the patients left behind a lack of fluency in speech and limb mobility, but the basic life can be taken care of by himself. Physical examination showed clear mental reaction and mild dysarthria. No blepharoptosis. Bilateral pupils are large and equal circles, which are sensitive to light reflection. The eyeball moves freely in all directions without nystagmus. Bilateral frontal lines and nasolabial sulcus remained unchanged. The strength of limbs was grade 4 +. Decreased tendon reflex in extremities. The bilateral finger-nose and heel-knee-tibia tests were not (mildly) accurate. Double Pasteur sign was negative.
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pmc-6380025-1
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A 12-year-old girl was admitted with noticeable palor and dyspnea on exertion for the past two weeks. No specific medicine or family histories were reported. She visited local clinics and her hemogram showed a low hemoglobin value. Physical examination showed a palor and mild tachycardia (110 bpm). Laboratory data taken in our hospital showed a hemoglobin level of 5.9 g/dL; mean corpuscular volume of 75.4 fl; C-reactive protein level of 1.02 mg/L; serum ferritin of 2.9 ng/mL; serum iron level of 9 μg/dL; and total iron binding capacity at 458.2 μg/dL. She denied bloody stool or abdominal discomfort history. Iron tablet (100 mg bid) was prescribed. Stool examination showed a mild hemoccult-positive (1+). 13C urea breath test was a positive finding. Therefore, upper GI endoscopy was arranged.
However, 8 h prior to scheduled exams, patient complained of sudden onset of severe tenderness with involuntary guarding and rebounding pain involving the entire abdomen. Interpretation of standing view and left lateral decubitus abdominal film detected free intraperitoneal air, and peritonitis was confirmed. Because of the abnormal image findings, surgical intervention was advised and in light of hemodynamic stability, a laparoscopic approach was performed. After initial exploration of the peritoneal cavity, a burst perforation, approximately 1 cm in diameter, was noted over lower gastric body (Fig. ). The edge of the perforation was excised, and simple closure was performed. The resected specimen was sent for pathological examination.
Histology confirmed the diagnosis of extranodal marginal zone B-cell lymphoma of MALT type. Section showed diffuse infiltration of small lymphocytes without residual normal architecture. The aggregation of tumor cells were composed of monocytoid cells with plasmacytoid and centrocyte-like cell differentiation (Fig. ). Immunohistochemically, these cells were positive for B-lymphocyte antigen cluster of differentiation (CD) 20, CD79a, and paired box protein Pax-5, but negative for CD3, CD5, CD10, B-cell lymphoma 2, CD30, terminal deoxynucleotidyl transferase, CD1a, c-Myc, and S100 (Fig. ). Light-chain restriction for infiltrating plasma cells was not identified. Both Epstein-Barr encoding region in situ hybridization and cytomegalovirus were negative. The B-cell clonality exhibited monoclonality (Fig. ).
Subsequently, a systemic workup for clinical staging, including lactate dehydrogenase (161 IU/L), β2-microglobulin (148.0 μg/dL), hepatitis B virus (nonreactive), hepatitis C virus (negative), and human immunodeficiency virus (negative), was performed. Positron emission tomography-computed tomography (PET-CT) showed accumulation of fluorodeoxyglucose in the same area. CT, bone scan, and bone marrow biopsy were also performed, and no metastatic lesion was detected. The Lugano staging system was considered to be Stage IE.
After resuming an oral diet, a 2-weeks course of oral antibacterial treatment (clarithromycin 500 mg plus amoxicillin 500 mg twice a day for 7 days followed by metronidazole 500 mg twice a day for another 7 days) plus 4 weeks esomeprazole (40 mg daily) were prescribed for Helicobacter pylori infection eradication. Endoscopy was scheduled 4 weeks after operation and showed a deep and large ulcer over anterior wall of the body with convergence of thickened mucosal folds (Fig. a). Biopsy samples were again obtained and consistent with extranodal marginal zone lymphoma of MALT. Therefore, involved field radiation therapy was delivered to the stomach (30 Gy in 20 fractions given over 4 weeks). There were no gastrointestinal side effects noted during and after radiotherapy.
A follow-up endoscopy was performed at 4 months after operation, and showed a broad-based healed scar with rugae interruption (Fig. b). The histological evaluation of biopsy specimen showed absent plasma cells and small lymphoid cells and complete histological remission was achieved at 2 months after radiotherapy. During a 1-year follow-up at our outpatient clinic, she has remained free of symptoms and without relapse. The timeline was shown in Additional file .
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pmc-6380712-1
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A 65-year-old man was diagnosed with pulmonary adenocarcinoma, then treated with chemotherapy. The cancer metastasized, and the patient was diagnosed with end-stage lung cancer. Cancer pain was treated with oral opioid therapy. Metastasis of the cancer caused obstructive jaundice and cholangitis, and the patient experienced septic shock. The attending physician performed emergent endoscopic biliary stent placement, in order to treat obstructive jaundice. The patient was medicated with continuous infusion of noradrenaline (0.2 μg/kg/min) through a peripheral vein, in order to maintain blood pressure. He underwent repeated placement of peripheral venous catheters, such that it became difficult to identify adequate peripheral veins for placement and maintenance of indwelling catheters. In the context of this treatment, the patient's congestive heart failure continued, which caused ascites and edema of the lower extremities.
The patient experienced orthopnea and could not sleep at night. The attending physician requested that the anesthesiologists secure a reliable venous line. The anesthesiologists checked the patient's groin and thighs; they excluded the femoral vein as a candidate for central venous access due to massive edema of the thighs. The anesthesiologists attempted to allow the patient to assume the supine or reverse Trendelenburg position; however, these positions caused worsening of the patient's dyspnea. The patient could solely tolerate the sitting position. The anesthesiologists then discontinued attempts to catheterize via the internal jugular and subclavian veins, because of the risk of air embolism during central venous catheterization of the patient in the sitting position.
The right subclavian vein was suspected to exhibit narrowing, based on computed tomography scan images (Fig. ). Thus, the anesthesiologists chose the left arm for insertion of a PICC, and found that the medial brachial vein exhibited sufficient size (diameter 4 mm) to place a PICC with ultrasound examination. The anesthesiologists allowed the patient to assume the sitting position, and placed the patient's arm on an over-bed table. PICC placement (4.5 Fr, double lumen, Argyle PICC Kit, Nippon Covidien, Inc., Tokyo, Japan) was performed using ultrasound guidance (6-15 MHz, SonoSite Edge, SonoSite Japan Co., Tokyo, Japan) with maximal sterile barrier precaution (Fig. ). Cannulation was performed without complications. The technique is summarized as follows (Fig. ).
The patient was allowed to sit on chair with a backrest.
The patient's stability was ensured (e.g., with aid from an assistant or nurse).
The patient's arm was raised and cleaned with disinfectants (1% chlorhexidine alcohol).
The adjustable over-bed table was covered with a disinfected drape.
The patient's arm was placed on the table.
The arm was allowed to abduct approximately 90° via adjustment of the height of the table.
The operator wore a cap, mask, and surgical gown (maximal sterile barrier precaution).
The assistant placed a towel between the drape and table to ensure that the medial side of the patient's arm faced upwards.
The ultrasound probe was covered with a sterile plastic cover.
Local anesthetic (1% lidocaine 3 mL) was injected with a 25-G needle.
A 20-G over-the-needle catheter (48 mm in length) was inserted into the skin.
The vein was accessed using a short-axis out-of-plane approach; the anterior wall of the vein was penetrated using a long-axis in-plane approach.
The PICC was placed using the modified Seldinger technique.
The anesthesiologists attempted to locate the catheter tip in the inferior vena cava or upper right atrium; however, the catheter tip could not proceed to the vena cava. Therefore, the catheter tip was placed in the left brachiocephalic vein (Fig. ). The left brachial vein and left subclavian vein appeared to maintain blood flow after PICC placement (Fig. ).
Continuous infusion of noradrenaline and opioid therapy was initiated through the PICC. The patient's orthopnea was slightly ameliorated, and he could sleep at night; however, he remained in the sitting position. The patient died 11 days after insertion of the PICC due to respiratory failure. The PICC was used without difficulty until his death.
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pmc-6380746-1
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A 65-year-old man came to our hospital with an 8-year history of pain and swelling of the right knee, with the pain particularly aggravated for the past 4 years. The pain increased with exertion and was relieved with rest. During the past 4 years, the pain markedly increased, and the joint had repeated bouts of swelling. The patient had been treated with oral anti-inflammatory and analgesic drugs, with little effect. He came to our hospital for further treatment and was diagnosed with severe osteoarthritis of the knee based on the radiologic and physical examinations. It was decided to perform TKA.
There was no history of rheumatoid disease, cancer, kidney disease, tuberculosis, HIV infection, or hepatitis. The patient denied a history of smoking, drinking, steroid use, and illegal drug abuse. The family and psychosocial histories were insignificant. It was important that the patient had had no previous knee puncture or knee trauma. Physical examination revealed mild knee swelling and pain, but the local skin temperature was normal. Knee radiographs revealed bone damage in the distal femur and proximal tibial subchondral bone, serious joint space narrowing, and obvious osteophyte formation (Fig. A)—findings that clearly suggested severe osteoarthritic changes in the knee joint.
On admission, laboratory studies revealed the following: white blood cell count 9.29 × 109 (4–10 × 109); erythrocyte sedimentation rate (ESR) 7 mm/h (0–15 mm/h); C-reactive protein (CRP) 4.9 mg/L (0–8.0 mg/L); and parathyroid hormone 37.05 pg/mL (15.00–65.00). Tests for antinuclear antibody, rheumatoid factor, anti-streptolysin O, and HLA B27 were all negative. Three days after admission, TKA was performed. During the operation, after cutting the bone we found several small, focal cavities under the cartilage. We filled them with bone cement with added vancomycin and implanted screws (Fig. B). During the surgery, we also found mild synovial inflammation and focal cystic degeneration of bone in the knee joint (Fig. A).
Postoperatively, we performed bacterial and fungal cultures and pathology examinations. The postoperative pathology results showed synovial tissue hyperplasia accompanied by mild inflammation, as well as tissue degeneration with nuclear fragments (Fig. B). Postoperative tissue cultures were negative for bacteria, but the fungal culture results suggested C parapsilosis infection (Fig. C).
Based on the results of the postoperative drug susceptibility tests, the patient was given fluconazole (400 mg/d i.v.). After 6 weeks, the fluconazole was discontinued, and the patient was discharged from the hospital. We asked the patient to return to the hospital for review at 3 and 6 months after the operation. He complied, and at 6 months there were no signs of recurrent infection.
Ethical approval was obtained from the Ethics Committee of Weifang People's Hospital and the patient gave his written informed consent and the ethics committee approval number was LL-2018-012.
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pmc-6380768-1
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A 72-year-old female patient underwent radical resection of the left lung cancer in July 2011 because of a mass revealed by computed tomography (CT) of chest. Pathological examination confirmed the diagnosis of lung adenocarcinoma, with a stage of IIIA (pT1N2M0) based on the NCCN tumor-node-metastasis classification system. Then she proceeded with gemcitabine and carboplatin regimen as adjuvant chemotherapy for 4 cycles. During her routine review on July 19, 2013, thickened left pleura and small nodular lesions of both lungs were revealed by the chest CT, which were considered as tumor recurrence and intrapulmonary metastases. Subsequently, the patient was treated with paclitaxel and carboplatin as first-line chemotherapy for 4 cycles. She was also recommended to take icotinib orally at a dose of 125 mg 3× a day as maintenance therapy due to the active EGFR mutation (L858R in exon 21) found in November 2013. Unfortunately, in October 2014, the tumor was evaluated as PD again, which led to second-line chemotherapy involving docetaxel monotherapy for 4 cycles. Ten months later on August 27, 2015, the chest CT showed progressive tumor in the left lung and carcinoembryonic antigen (CEA) also increased; so, gemcitabine and cisplatinum were prescribed as third-line chemotherapy. However, the regimen was discontinued on the first day due to her severe nausea, vomiting, anorexia, and fatigue. Then the strategy switched to paclitaxel monotherapy for 4 cycles. At the same time, the genetic analysis using her peripheral blood sample displayed that T790 M was negative, so icotinib was continued as maintenance therapy. More than 1 year later on February 8, 2017, the patient was admitted to our department complaining of severe cough and white sputum with an Eastern Cooperative Oncology Group (ECOG) performance status (PS) of 2. The chest CT identified PD in left lung (Fig. A) and serum CEA level markedly increased to 715.3 ng/mL. No evidence of metastasis was observed in abdomen, brain, and bone with the CT examination or bone scan. After comprehensive assessment, apatinib alone was prescribed at a dose of 250 mg/d orally to defend against the tumor. Remarkable tumor regression (Fig. B) was observed, and CEA also sharply decreased to normal level 1 month later on March 8, 2017. Therefore, the regimen was continued and the chest CT was performed every 2 months to assess the tumor. On October 23, 2017, the chest CT indicated stable disease in the left lung (Fig. C). But 2 months later on December 15, 2017, the woman attended our hospital for chest pain with a bad ECOG PS of 3. The chest CT verified PD of left lung cancer and serious infection of both lungs. Although received anti-infective and supportive treatment, she died of respiratory failure 2 weeks later. Hypertension of grade 1 occurred in her whole course of apatinib treatment, which was tolerated and manageable with no dose adjustment or drug withdrawal. What deserves to be mentioned was that the patient had been taking icotinib as maintenance therapy between line-to-line chemotherapy until the administration of apatinib in her whole course of anti-tumor treatment.
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pmc-6380822-1
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A 45-year-old man was diagnosed with small intestinal GIST and underwent surgery in August 2001. The tumor was found on the proximal jejunum with a size of 13 × 9 × 7 cm. The tumor mainly consisted of spindle cells with a mitotic count of 8/50 high-power fields (HPFs) by histopathology, and was positive for CD117 by immunohistochemistry. The patient did not receive adjuvant imatinib treatment after surgery. In March 2005, a giant tumor that invaded the hilus of the left kidney and left adrenal was found by a computed tomography (CT) scan during follow-up. The tumor size was about 11 × 8 × 6 cm, and biopsy showed features similar to those of the previous tumor. Thus, the diagnosis of tumor recurrence was established. After 4 months of preoperative imatinib treatment (400 mg/day), the recurrent tumor was completely resected.[ Then the patient received adjuvant imatinib treatment with a dose level of 400 mg/day. The successful treatment of this case was reported in 2007.[ Follow-up was performed every 3 to 6 months including complete blood count, chemistry profile, tumor markers, CT scan, and ultrasonic examination.
In June 2011, the patient was admitted to our hospital because of yellow discoloration of urine, fatigue, and poor appetite. A urine test showed positive urobilinogen (140 μM/L), urine protein (0.5 g/L), and urobilirubin (8.5 μM/L). A liver function test revealed increased levels of alanine aminotransferase (1103 U/L), aspartate aminotransferase (394 U/L), total bilirubin (37.0 μM/L), indirect bilirubin (21 μM/L), direct bilirubin (16 μM/L), and gamma-glutamyl transferase (322 U/L). The hepatitis B markers HBsAg, HBcAb, and HBeAg were also remarkably increased to 545.01 ng/mL, 126.26 PEIU/mL, and 138.514 PEIU/mL, respectively. A diagnosis of acute viral hepatitis B infection was established. Therefore, liver protection and the antiviral drug Entecavir (0.5 g/day) were prioritized and adjuvant imatinib treatment was interrupted for 3 weeks until liver function completely recovered. Adjuvant imatinib treatment was resumed with a reduced dose level of 300 mg/day in consideration of immunosuppression.
Because of worsened post-satiety abdominal distension, the patient received an abdominal CT scan and ultrasonography in February 2017. The CT scan showed chronic cholecystitis, gallbladder stones, and common bile duct stones. In March 2017, the patient was admitted to our hospital. Endoscopic retrograde cholangiopancreatography was performed to remove muddy stones of the common bile duct. After 1 week, laparoscopic cholecystectomy was performed. Imatinib treatment was interrupted again during the 12 days of the hospital stay. Since discharge from the hospital, the patient has been taking imatinib (300 mg/day).
The functional assessment of cancer therapy-general (FACT-G) version 4 questionnaire,[ which encompasses 4 primary dimensions of quality of life (physical well-being [PWB], social/family well-being [SWB], emotional well-being [EWB], and functional well-being [FWB]), was conducted to assess the quality of life of the patient. The total FACT-G score is obtained by summing individual subscale scores (PWB + SWB + EWB + FWB). The total FACT-G score before imatinib treatment was 50 points (PWB 18 points + SWB 24 points + EWB 3 points + FWB 5 points) and increased to 57 points (PWB 1 point + SWB 24 points + EWB 4 points + FWB 28 points) after imatinib treatment. Furthermore, the plasma concentration of imatinib was tested when available. The results on February 13, 2018 showed trough concentration (Cmin) of 1015.7 ng/mL and peak concentration (Cmax) of 1550.5 ng/mL. According to the tolerance assessment, the patient did not suffer any major side effects from long-term (>12 years) imatinib treatment except for visibly pale skin.
The patient has permitted and provided informed consent for the publication of his medical data.
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pmc-6380827-1
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An 82-year-old female without history of disease was admitted to the emergency room because of abdominal pain in December 2009. Left colonic obstruction was revealed by the CT scan of the abdomen. She underwent left hemicolectomy subsequently and pathological examination displayed well-to-moderately differentiated adenocarcinoma (Fig. A) with serosal invasion, lymph node metastases (2/16) and lymph vessel tumor emboli (Fig. B). The stage was IIIB (T3N1M0) based on the NCCN TNM classification system. She refused adjuvant chemotherapy but developed multiple liver metastases (Fig. A) 3 months later. The carcinoembryonic antigen (CEA) also increased to 9.5 ng/ml. Physical examination indicated no significant findings and her ECOG performance status was 0. Considering her old age, capecitabine monotherapy (1250 mg/m2 twice daily on days 1–14, every 3 weeks) was administered as first-line treatment on March 10, 2010. The liver metastases shrunk by 20% and CEA sharply decreased to 3.2 ng/ml when 2 cycles were completed. After 8 cycles, the metastases completely disappeared (Fig. B). The regimen was continued until 12 cycles were completed and another 4 cycles were followed as maintenance chemotherapy. During the whole course, the patient suffered leucopenia of grade 1 and hand-foot syndrome of grade 1, which were mild and controllable. No evidence of recurrence or metastasis was observed and CEA was also within normal range during her routine review. Considering the inspiring long PFS observed, we conducted a genetic test in October 2013, which exposed BRAF V600E mutation and KRAS wild-type, low mRNA expression of thymidylate synthase (TS), low mRNA expression of PTEN. The microsatellite instability (MSI) status was microsatellite stable (MSS) (Fig. ). UP to the latest follow-up in January 2018, no evidence of recurrence or metastasis was observed in liver (Fig. C) and the PFS has reached up 87 months. At present, the female is still alive and enjoying good quality of life.
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pmc-6380839-1
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A 65-year-old Japanese woman was admitted to our hospital for close examination of decreased renal function. Her father had cardiac disease and her mother had liver cirrhosis. When she developed maxillary sinusitis 3 years before, renal insufficiency was pointed out with a serum creatinine level (sCr) of 1.15 mg/dL. One year before admission, her sCr rose to 1.31 mg/dL and urine protein was 2.0 g/gCr, but kidney biopsy revealed interstitial fibrosis and tubular atrophy without any glomerular abnormalities, and the etiology could not be determined. Although she had been treated with valsartan, her sCr gradually worsened to 1.94 mg/dL.
On admission, her blood pressure was 110/60 mmHg, pulse rate was 84/min, and body temperature was 36.2°C. The heart, lungs, and abdominal findings were normal. No lower leg edema, skin rashes, or neurological abnormalities were noted. Urinalysis showed 2+ proteinuria, 2+ occult blood, and no glycosuria. Urinary sediment showed neither granular nor red blood cell casts. Proteinuria was 1.31 g/gCr. Blood examination revealed renal insufficiency [Cr 1.94 mg/dL, estimated glomerular filtration rate (eGFR) 21.0 mL/min/1.73 m2]. No evidence of Fanconi syndrome was noted (uric acid 3.0 mg/dL, sodium 139 mEq/L, potassium 3.9 mEq/L, calcium 8.8 mg/dL, phosphate 3.3 mg/dL). Her immunological data showed normal complement levels [C3 108 mg/dL (normal: 44–102 mg/dL), CH50 40 U/mL (normal: 32–47 U/mL)] but mild elevation of immunoglobulin G (IgG) with decreased levels of IgA and IgM (IgG 2,259 mg/dL, IgA 47 mg/dL, IgM 42 mg/dL). Anti-nuclear antibodies were negative. Immunoelectrophoresis revealed serum monoclonal IgG κ and urine κ Bence-Jones protein. Because bone marrow biopsy showed a plasma cell fraction of less than 10%, the diagnosis of monoclonal gammopathy of undetermined significance (MGUS) was made.
On admission, a kidney biopsy was performed. The renal specimens contained 17 glomeruli, 7 of which showed global sclerosis. The tubulointerstitium showed diffuse interstitial fibrosis with some inflammatory cell infiltration (Fig. A). A substantial number of proximal and distal tubular epithelial cells had a foamy appearance (Fig. A–B) which consisted of eosin- and trichrome-negative pale needle-like crystals (Fig. B). These crystals were also present in the interstitium and glomerular podocytes, showing a foamy appearance (Fig. B–C). The glomeruli showed minor abnormalities (Fig. C). Immunostaining revealed CD68-positive macrophages containing the needle-like crystals in the interstitium (Fig. D). Immunofluorescence showed negative staining of IgG, IgA, IgM, C3, C1q, κ, and λ. Electron microscopy showed accumulation of club-like crystals with high electron density in proximal tubular epithelial cells (PTE) and interstitial histiocytes (Fig. E–G). A similar accumulation of club-like crystals with high electron density was present in podocytes (Fig. F–H). The diagnosis of crystalline light chain inclusion-associated kidney disease was made. Bortezomib and dexamethasone were started and her renal function improved to eGFR 36 mL/min/1.73 m2 after 9 courses of therapy (Fig. ).
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pmc-6381191-1
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A 45-year-old woman originally visited a different hospital because of a focal asymmetric density of the left breast identified by screening mammography. She had a medical history of Sjogren’s syndrome. Ultrasonography showed no abnormality in the left breast, whereas an indistinct hypoechoic mass of 25 mm in diameter was detected in the outer side of the right breast. Although cytology of the right breast mass indicated no malignant feature, she came to our hospital for further examinations.
A lump of 3 cm in diameter was palpable on the outer side of the right breast. Mammography at our hospital showed no abnormality (Fig. ). Ultrasonography showed a well-defined and rough hypoechoic mass of 32 mm in diameter at the site of the lump (Fig. ). With suspicion of breast cancer, an ultrasound-guided vacuum-assisted breast biopsy was performed.
For pathological diagnosis, hematoxylin and eosin staining showed deposits of nonstructural substances in the interstitium (Fig. a). The specimen was positively stained by Congo red (Fig. b) and showed green birefringence under a polarizing microscope (Fig. c). Thus, the mass was diagnosed as an amyloid tumor. She had no systemic symptoms suggestive of systemic amyloidosis. We considered further therapy to be unnecessary, and annual follow-up was recommended.
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pmc-6381192-1
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A 61-year-old male patient without a previous medical history was diagnosed with pancreatic cancer in August 2015 and underwent PD. However, a postoperative pathologic examination yielded a diagnosis of ITPN with associated invasive carcinoma. The patient underwent routine examinations after receiving postoperative chemotherapy with S-1 for 6 months (60 mg, orally administered twice a day for 28 days followed by a 14-day rest period). During hospitalization due to acute pancreatitis in December 2016, ITPN recurrence was diagnosed by detailed examinations.
Although he used to smoke 20 cigarettes and drink 700 ml of beer a day, the patient quit smoking and drinking after the first surgery. There was no remarkable past history.
Laboratory data were normal, except for amylase (298 UI/I; normal, 10-20 UI/l) and lipase (352 UI/I; normal, 10-20 UI/I). Regarding tumor markers, carbohydrate antigen 19-9 (CA19-9) was slightly increased at 37.3 U/ml, but carcinoembryonic antigen (CEA) and DUPAN-2 were within normal limits.
Preoperative computed tomography (CT) showed a tumor with a low-contrast effect approximately 1 cm in the head of the pancreas and dilatation of the upstream main pancreatic duct (Fig. a, b). At the stenosis of the pancreatic duct, there was a tumor that showed a low signal by fat suppression T1WI and a high signal by T2WI and diffusion-weighted imaging (DWI) (Fig. c).
Endoscopic retrograde cholangiopancreatography (ERCP) was performed before the operation. ERCP showed an irregular defect in the main pancreatic duct at the head of the pancreas (Fig. d). No image suggested mucus in the pancreatic duct. Brush cytology of the stenosis revealed only pancreatic duct epithelial cells with low atypia.
Given that pancreatic cancer was diagnosed based on these examinations, subtotal stomach-preserving pancreatoduodenectomy (SSPPD) was performed in August 2015.
The macroscopic findings of the resected specimen showed that the tumor filled the pancreatic duct (Fig. a). A tumor was growing with tubular or cribriform features in the vascular stroma at the main pancreatic duct. The tumor was accompanied by necrosis in some locations and invaded the stroma around the main pancreatic duct (Fig. b, c). Mucus production from the tumor was not observed. The results of immunohistochemical staining were as follows: cytokeratin7 (+), cytokeratin19 (+), MUC5AC (−), MUC2 (−), MUC6 (+), chromogranin A (−), synaptophysin (−), and P53 (+). The Ki-67 labeling index was 35.3%, resulting in a final diagnosis of ITPN with associated invasive carcinoma. A histopathological examination revealed no ITPN at the resection stump of the pancreas.
When recurrence was diagnosed, amylase and lipase levels were as high as 269 UI/I and 784 UI/I, respectively, but the other data were within normal limits. Each tumor marker, such as CEA, CA 19-9, and DUPAN-2, was within normal limits.
The CT showed a low concentration region of 2 cm in size near the pancreato-jejunal anastomosis, which was similar to the primary ITPN (Fig. a). Dilatation of the upstream main pancreatic duct was observed (Fig. b). MRI revealed a tumor showing a high signal by DWI at the stenosis of the pancreatic duct (Fig. c). Positron emission tomography/computed tomography (PET-CT) revealed an accumulation of SUV max 4.0 at the tumor, while any findings suggestive of other metastases were not observed (Fig. d).
As ITPN was not observed at the resection stump of the pancreas by pathological examination of the first surgery, the tumor was diagnosed as recurrence after complete resection rather than residual ITPN in the first operation. A total remnant pancreatectomy was performed in January 2017.
In the histopathological investigation, ITPN polypoid recurrence in the pancreatic duct was observed at a distance of 2.5 cm from the pancreatic stump. Moreover, three tumor masses were observed in the main pancreatic duct at sites distant from the main tumor (Fig. ). The main tumor did not show invasion but infiltrated into the main duct and the branches of the pancreatic duct (Fig. a, b).
Immunohistochemical staining results revealed cytokeratin7 (+), cytokeratin19 (+), MUC5AC (+/−), MUC2 (−), MUC6 (−), chromogranin A (+/−), synaptophysin (+/−), and p53 (+), which were similar to the primary ITPN. The expression of trypsin, which is indicative of acinar cell carcinoma, was negative. The Ki-67 labeling index was 45.1%, which was very similar to the 35.3% of the primary lesion. Three tumor masses were observed floating in the main pancreatic duct at sites distant from the tumor, while there were no obvious malignant findings in the pancreatic duct epithelium at each region (Fig. c–e).
Recurrence was not observed for 23 months after the second surgery.
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pmc-6381193-1
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A 65-year-old man with chronic renal failure due to membranoproliferative glomerulonephritis underwent CAPD. Seven months after starting CAPD, he developed dyspnea. A chest X-ray and computed tomography showed the right hydrothorax (Fig. a, b). PPC was suspected; for performing radioscintigraphy for diagnosis, 99mTc-macro-aggregated albumin (99mTc-MAA) was administered into the peritoneal cavity with dialysate, and 240 min later, a leakage point of the dialysate into the right pleural cavity was detected (Fig. c). Surgical repair for PPC was planned to resume CAPD. Under general anesthesia, the patient was intubated with a double-lumen endotracheal tube and positioned in a left lateral decubitus position. One 2-cm and three 3-cm skin incisions were made at the fourth, sixth, eighth, and ninth intercostal spaces on the posterior axillary lines, respectively (Fig. a). The latissimus dorsi muscle (LDM) was accessed and separated from the lower part to the upper along the muscle fiber, and the half of the muscle was eventually harvested as a pedicled LDM flap (Fig. b). A mini-thoracotomy was performed at the eighth intercostal space of the anterior axillary line and ninth intercostal space on the posterior axillary line, XXS-size wound retractors (Alexis® Wound Retractor, Applied Medical, Rancho Santa Margarita, CA, USA) were placed at both places, and a 30°, 10-mm thoracoscope was inserted at the sixth intercostal space of the anterior axillary line. By carefully inspecting the diaphragm with the thoracoscope, the hole was detected at the right central tendon of the diaphragm (Fig. c). The lesion was closed with two 2–0 absorbable multifilament sutures (Polysorb®, Medtronic, Minneapolis, MN). For avoiding liver damage by suturing, the diaphragm was pulled sufficiently and then sutured. The central tendon around the reinforcement was covered with a sheet of absorbable polyglycolic-acid (PGA) sheet (Neoveil®, Gunze, Osaka, Japan) (Fig. d). For reinforcing the lesion, the harvested pedicled LDM flap was inserted from the ninth intercostal space of the posterior axillary line and allowed to reach the lesion of the diaphragm. The central tendon around the reinforcement was sprayed with fibrin glue (Beriplast P®, CSL Behring, King of Prussia, PA) (Fig. e). A 21-Fr silicone drain (silicone thoracic catheter®, NIPRO, Osaka) was inserted in the right pleural cavity, and a 15-Fr silicone drain (blake drain®, ETHICON, Somerville, NJ) was inserted in the subcutaneous. The chest silicone drain was removed on the fourth postoperative day, because the amount of pleural effusion decreased to less than 100 mL. The subcutaneous silicone drain was removed on the eighth postoperative day, because the amount of drainage decreased. The patient was discharged on the tenth postoperative day. The patient resumed CAPD 7 weeks later, and no recurrence of the right hydrothorax was observed for 14 months.
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pmc-6381195-1
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A 67-year-old man, who had no significant family history and past history, accidentally fell from a stepladder, which was 3 m in height, while he was pruning a plant. Owing to the resulting injuries, he was transported to our hospital. After the fall, his consciousness level was Glasgow coma scale (GCS) E3V5M6, respiratory rate (RR) was 24 breaths per min, SpO 2 was 90% (oxygen 10 L/min reservoir mask), heart rate (HR) was 96 beats per min, and blood pressure was (BP) 173/103 mmHg. On arrival, the airway was opened, RR was 28/min, SpO 2 was 90% (oxygen 5 L/min mask), BP was 148/100 mmHg, HR was 104/min, body temperature was 36.0 °C, and focused assessment with sonography for trauma (FAST) was negative. Electrocardiography revealed sinus tachycardia and heart expansion was not observed in chest X-ray images. There was no jugular venous distention, and there were no heart noises on auscultation. There was no obvious bruise on the skin surface, but he was complaining of occipital pain and left back pain. Bilateral multiple rib fracture, left lung contusion, left hemothorax, and right pneumothorax were observed on plain whole-body CT (Fig. ), but no pericardial effusion was observed. After CT, we performed chest drainage on both sides. Drainage after indwelling was barely observed on the right side, and drainage from the left side was 300 ml. After placing the thoracic drain, he was transferred to the ICU.
The following was the clinical course after the hospitalization (Fig. ): drainage from the left thoracic tube increased and reached almost 800 ml in 4 h from 10 h after admission. It was difficult to visualize his pericardial effusion and pleural effusion using echocardiography. As his circulatory dynamics were intact, CECT (Fig. ) was performed to investigate the cause of the massive hemothorax. Subcutaneous emphysema was found in the chest wall. Furthermore, we found a “flattened heart sign,” suggesting pericardial effusion with extravasation and cardiac tamponade in the pericardium. After returning to the ICU, we were preparing for surgery to stop the bleeding. His HR rapidly deteriorated to 120 beats/min and BP was also 68/50 mmHg. Therefore, we determined that cardiopulmonary arrest due to cardiac tamponade was imminent. After tracheal intubation, we performed left anterior lateral thoracotomy. We identified slight bleeding that included the pulmonary parenchyma after aspiration of blood stored in the thoracic cavity. We stopped the bleeding from his chest wall by applying a thoracotomy device; hence, we thought that his massive hemothorax was caused by bilateral multiple rib fractures. We removed a hematoma that formed in the pericardial fat. Furthermore, there was no obvious open wound on the pericardium. We confirmed that there was no phrenic nerve near the hematoma and we performed a pericardiotomy on the portion where a hematoma had formed. We incised the pericardium, which resulted in a blood spurt. We then removed the hematoma in the pericardium and sutured the ruptured pericardiophrenic artery including pericardial fat, thus achieving hemostasis. The source of the damage to the heart was unclear. After pericardiotomy, his HR did not change at 120 beats/min, but his BP improved to 134/70 mmHg. We performed temporary thoracic closure with negative-pressure wound therapy using the VAC® system (Acelity L.P. Inc., San Antonio, TX) as damage control management. The operation duration was 75 min. The total amount of blood was 530 ml in the thoracic cavity. After 12 h, when we removed the VAC® system and checked the pericardium, hemostasis was achieved. Closure of the pericardium was difficult because the pericardium did not stretch. Therefore, we did not attempt to close the pericardium and we closed the chest. The postoperative course was good. A ninth thoracic spinal burst fracture was associated with the fall; hence, the patient was forced to carry out long-term bed rest. On day 41, he was discharged wearing a corset.
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pmc-6381197-1
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A 38-year-old man visited our hospital complaining of anterior chest pain. He had no significant medical or family history, and the vital signs were stable. Ischemic events were not observed in electrocardiography, but chest X-ray and computed tomography (CT) showed a cystic lesion (6.0 × 7.0 × 10.0 cm) in the anterior mediastinum (Fig. a). Although the cystic capsule demonstrated contrast enhancement, its fluid component had low radiation absorbance. Based on these findings, we suspected the mass to be a thymic cyst. Blood tests indicated the presence of inflammation (white blood cell count 11,200/μL and C-reactive protein 3.38 mg/dL).
Two days after hospitalization, the patient developed dyspnea and his chest pain worsened. Subsequent chest CT showed that the cystic lesion had become inhomogeneous and the radiation absorbance of the cyst’s fluid component had increased (Fig. b). The cyst wall became thickened, and bilateral effusion was observed. Blood tests indicated that hemoglobin levels had decreased from 15.8 to 12.8 g/dL, and levels of inflammatory markers had increased, with the fever exceeding 38.5 °C. Needle aspiration biopsy and tumor wall biopsy with a small skin incision were performed; however, we could not obtain a diagnosis. One week after admission, general condition and laboratory data of the patient gradually improved. A chest CT on day 13 showed that the tumor had become small in size with a thickened wall (Fig. c). The effusion on the right side had decreased and that on the left side had disappeared.
The patient had recovered enough to undergo surgery; the tumor was resected by sternotomy on day 18. The tumor was found to be encased in a smooth, yellow, and elastic coat. The tumor was densely adhered to the junction of the left brachiocephalic vein and superior vena cava, and it was required to detach the tumor from the dense adhesion site carefully. The right phrenic nerve was preserved, and the right pleural effusion was serous. The tumor and thymic tissue were resected en bloc. The operative time was 288 min, and the estimated blood loss was 521 mL. The resected tumor was covered with a thick, fibrous capsule, and the lumen was filled with necrotic tissue and hemorrhagic material (Fig. a, b). The postoperative course was uneventful, and he was discharged on day 26.
The pathological findings showed a fibrotic cyst wall; the cyst was filled with necrotic tissue. The slight proliferation of lymphocytes was confirmed in the necrotic tissue and around the cyst wall (Fig. a, b). The tumor was diagnosed as type B1 cystic thymoma (Fig. c). As the tumor did not appear to have spread beyond the capsule, it was determined to be at Masaoka stage I. Nevertheless, the dense adherence of the tumor to its surrounding tissue indicated the possibility of invasion, and postoperative radiotherapy (50 Gy) was administered.
Two years after the surgery, recurrent metastasis of the tumor was found on the right pleura and the left upper lobe of the lung. The patient was treated with chemotherapy, radiotherapy, and local resection. The patient remains alive 12 years after the first surgery. Following an analysis of the tissue obtained from the resected recurrent tumor, the pathological diagnosis was changed to type B3 thymoma.
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pmc-6381395-1
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A 40-year-old female applied to the outpatient clinic with blurry vision, foreign body sensation, tearing, and photophobia lasting for several years. Her medical history revealed that she had primary adrenocortical insufficiency for 11 years and received hormone replacement (fludrocortisone acetate) therapy.
Best corrected visual acuity was 5/10 in the right eye and 6/10 in the left eye. Slit-lamp examination revealed a dull and irregular reflex from the corneal surface. There was corneal epithelial haze and classic “waterfall” or “whorled” epithelium extending to the central cornea. Superficial peripheral corneal neovascularization was also observed in both eyes (Figure 1 ). Serum cortisone level was lower than normal [31.62 nmol/L (normal range, 64–536)]. Serum parathormone, thyroid hormone, thyroid stimulating hormone, sodium, calcium, potassium, and phosphorus levels were within normal limits in various blood tests. With the history and clinical presentation, the diagnosis was compatible with partial LSCD.
We started treatment with frequent ocular lubricant and topical steroid drops for ocular surface disease in the acute phase to control the inflammation and planned to go on with topical cyclosporin for the long term. The patient was already taking systemic steroid treatment with oral cortisone at the endocrinology department. After 3 weeks, there was no corneal neovascularization and corneal epithelial haze, but a stromal scar remained at the peripheral cornea of both eyes (Figure 2 ).
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pmc-6381396-1
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A 59-year-old female presented with decreased vision in the left eye (OS) for 15 days. She was recently diagnosed with left breast carcinoma. She had been advised mastectomy for the breast malignancy 1 month ago and had not followed up with her oncologist since then. The patient did not have diabetes, hypertension or hyperlipidemia. There was no history of coronary artery disease or stroke. The blood pressure recorded in the clinic was 128/90 mm Hg. Visual acuity in OS was 1/60 and VA in right eye (OD) was 6/6. Intraocular pressure in both eyes was 14 mm Hg by non-contact tonometry. The anterior segment examination in both eyes was normal and the pupil in OS did not show a relative afferent pupillary defect. Fundus exam of OS revealed mild pallor of the optic disc (arrowhead, Figure 1 ). Multiple superficial and deep retinal hemorrhages were striking (arrows, Figure 1 ). Few cotton wool spots were noted supero-temporal to the optic disc (asterisk, Figure 1 ). Preretinal hemorrhage was present at the macula with macular edema. Retinal exam of the OD was normal. Optical coherence tomography of OS showed macular edema (arrowhead, Figure 2A ) with a central foveal thickness of 1,162 microns (normal: 220–240 microns). Backshadowing was present due to retinal hemorrhages. Ultrasound scan of OS showed thickened retina at the posterior pole (arrowhead, Figure 2B ) of the eye suggesting macular edema. There were no apparent ocular, optic nerve or orbital mass lesions.
Hematological investigations showed that the hemoglobin was 9 gm% (normal: 12–15), platelet count was 255,000/mm3 (normal: 150,000–400,000), fasting plasma glucose was 106 mg% (normal: 80–120), blood urea was 34 mg% (normal: 15–40), serum Creatinine was 0.8 mg% (normal: 0.5–0.9), erythrocyte sedimentation rate was 28 mm at one hour (normal: 0–15), hematocrit was 89.8% (normal: 36–46), bleeding time was 2 minutes 05 seconds (normal: 0–7 minutes) and clotting time was 4 minutes 15 seconds (normal: 4–9 minutes). The lipid profile was normal. Peripheral blood smear showed microcytic hypochromic anemia with tear drop cells and Rouleaux formation. Total leucocyte count was normal with differential count showing eosinophilia (19%). The blood sample was negative for human immunodeficiency virus and hepatitis B virus. X-ray mammogram, sonomammogram and elastomammogram of the left breast in the craniocaudal and mediolateral oblique views showed a 2x 2.7 cm ill defined hypoechoeic and hypolucent lesion with irregular margins in the retro areolar region with architectural alterations and nipple retraction. The axillary lymph nodes were enlarged with the largest measuring 1x 0.9 cm. Ultrasound abdomen and magnetic resonance imaging of the head and orbit (axial T2-weighted sequence, Figure 3A ; fluid-attenuated inversion recovery sequence (FLAIR), Figure 3B ) did not show any secondary mass lesions.
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pmc-6381397-1
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A 65-year-old female was referred to our department with pseudophakic cystoid macular oedema (CME) in her left eye (LE). According to her records, she was initially given topical non-steroidal anti-inflammatory drugs followed by steroid drops with no significant improvement in vision.
On examination, the best corrected visual acuity (BCVA) in the LE was 20/120. Fundus evaluation and OCT revealed pseudophakic CME. The decision was made to give PST in LE. After topical anaesthesia, 0.5 ml (Kenalog 40 mg/ml in 1 ml) was injected on the superotemporal quadrant with a 27G needle by a trainee.
Immediately after the procedure in the left eye, inadvertent globe penetration was detected via indirect signs: red reflex became white, severe shallowing of the anterior chamber and immediate profound loss of vision, and a soft eye on digital palpation.
On examination, left eye fundus evaluation revealed sub-retinal triamcinolone with patchy retinal necrosis with macula off superior retinal detachment (Figure 1 ).
The patient underwent immediate pars-plana vitrectomy (PPV) with removal of the subretinal triamcinolone along with silicon oil insertion. During vitrectomy, 1 retinal tear associated with retinal detachment was noted on the superior retina along with subretinal particles of triamcinolone over the macular area. Some triamcinolone particles were also found dispersed in the vitreous cavity. Exploration of the surgical site of the injection was done, with a puncture site detected posterior to pars plana, corresponding to the location of the insertion of the needle. However, the patient developed re-detachment at 3-month follow-up for which she underwent repeat PPV. At 6-month follow-up, the retina was attached under oil with vision of HM (Figure 2 ).
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pmc-6381419-1
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A 27-year-old female patient presented with a progressive visual impairment in both eyes in 2006. She had received charged particle radiation in 1998 for nasopharyngeal carcinoma together with 3 cycles of chemotherapy (each epirubicin 150 mg + cisplatin 150 mg). There was no history of diabetes mellitus, arterial hypertension or any other systemic vascular diseases.
At the initial presentation, the best-corrected visual acuity was 20/100 in the right eye and 20/50 in the left eye (bilateral –3.00 spherical equivalent). The intraocular pressure and slit lamp examination of the anterior segment was unremarkable. Funduscopic examination of the right eye revealed intraretinal hemorrhages, exudates, and a diffuse macular edema. The left retina showed modest intraretinal hemorrhages and microaneurisms at the posterior pole and enlarged arterial calibration (Figure 1 A, B ). Fundus fluorescein angiography (FFA) revealed an enlarged and clear-cut foveal avascular zone with perifoveal telangiectasia, which was more pronounced in the right eye. Diffuse macular leakage was observed in the late venous phase bilaterally (Figure 1 C, D ).
The ischemic macular changes and medical history of radiation therapy suggested us the diagnosis of radiation maculopathy. The patient was subsequently treated with one session focal laser photocoagulation OU and multiple intravitreal injections in between 2006 and 2014 (5 Bevacizumab, 1 Pegaptanib and 6 Ranibizumab injections for OD and 1 Bevacizumab, 2 Pegaptanib, and 2 Ranibizumab injections for OS). Consequently, the macular edema resolved, the visual acuity improved to 20/40 right and 20/30 left, and the patient was followed in longer periodic intervals. During a routine examination in 2013, we noticed retinal crystals, which surrounded and spared the fovea (Figure 2 A, B ). Optical coherence tomography (OCT) showed hyperreflective dots mainly located in the superficial nerve fibre layer, which corresponded to the crystalline deposits and additionally punctate hyperreflectivity in the outer plexiform and nuclear layer (Figure 2 C, D ). However, as the old fundus camera was replaced in 2013 all color pictures could not be reviewed. Only the first colour picture captured at the presentation had copies.
In between 2014 and 2017, functional and morphological findings were stable without necessitating further treatment. However, the crystalline deposits changed throughout slightly.
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pmc-6381420-1
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A 28-year-old female patient presented with a medical history significant for contact lens associated keratitis. She had been treated with several different topical antibiotics for almost three months due to contact lens associated corneal infiltration. Due to increasing anterior chamber involvement, local and systemic steroids had been added after one month. Since the patient’s symptoms failed to improve, she was referred to our clinic. Best corrected visual acuity was 8/20 on her right eye and 20/20 on her left. Intraocular pressure was normal. Slit lamp examination revealed on the right eye a peripheral corneal infiltration with a central ulcer, a deep anterior chamber with a mass on the iris and a hypopyon (Figure 1 ). These features evoked suspicion of a fungal intraocular infection. Steroids were stopped and a biopsy of the mass was performed with bimanual irrigation and aspiration handpiece use (Figure 2 ). Topical treatment with Natamycin 5% and Voriconazole 1.9% eye drops was started hourly, and initially Voriconazole 400 mg intravenously was also given twice a day. First specimen taken showed Fusarium spp. without further subdifferentiation. Intracameral lavage with Amphotericin B (7.4 µg) was performed by tap and inject in the operating room. A second specimen was taken with bimanual irrigation and aspiration handpiece use for further subdifferentiation and antifungal drug susceptibility testing after 3 injections of Amphotericin B.
Initially, anterior chamber lavage was performed once a day for four consecutive days (Figure 3A,B ). Two days later, slit lamp examination revealed small whitish dots on the anterior lens capsule (Figure 3C ). Assuming persistent activity of intraocular infection lavage of the anterior chamber with Amphotericin B was continued once a day for another five days.
Fusarium solani was isolated from the second specimen and sent to a reference laboratory to perform a Sensititre YeastOne microdilution antifungal susceptibility testing. The result took seven days. Amphotericin B had the highest efficacy (2 µg/ml), followed by Natamycin (4 µg/ml), whereas Azoles (Voriconazole, Posaconazole, Itraconazole) were ineffective. Consequently, topical and systemic therapy with Voriconazole was discontinued. At no time did the vitreous or retina show signs of infiltration. Topical treatment was gradually tapered to Natamycin 5 times daily.
The patient was discharged after two weeks of aggressive treatment with easing of local signs (Figure 3D ). After six months, her visual acuity has improved to 200/200 on the right eye and slit lamp examination revealed a cicatrizing peripheral corneal ulcer with closed epithelium (Figure 4 ).
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pmc-6381552-1
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A 55-year-old male with the history of end-stage renal disease (ESRD) on triweekly hemodialysis presented with right flank pain that began in the morning on the day of presentation. Pain was sudden in onset, cramping in type, continuous with intermittent exacerbation, and radiated to the groin. The patient denied history of fever, nausea, vomiting, and pain elsewhere in the back and the abdomen and denied prior history of similar pain in the back or abdomen. He denied diarrhea or constipation. Change in the color of urine could not be assessed as he had been anuric for two years. He had history of diabetes, hypertension, hyperlipidemia, and end-stage renal disease secondary to diabetic nephropathy and hypertensive nephrosclerosis. He did not have history of abdominal trauma, surgery, or renal biopsy. Clinical assessment one day back during last dialysis was normal, and the dialysis session was uneventful. Evaluation of vitals in the emergency department revealed sinus tachycardia with heart rate 120 bpm, blood pressure was 130/70 mmHg, and respiratory rate was 16 breaths per minute with saturation of 95% on room air. Jugular venous pressure was not raised. Examination of the abdomen including back revealed tenderness of right renal angle and flank. Abdominal examination was otherwise unremarkable. Systemic examination of cardiovascular, respiratory, and neurologic systems was within normal limits.
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pmc-6381554-1
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A 57-year-old female presented to emergency room with left lower quadrant abdominal pain. She was afebrile with vital signs within normal limits. WBC count, liver function studies, and lipase were within normal limits.
She reported several episodes of abdominal pain in last 3 years related to recurrent diverticultis. She also reported a remote history of gastric ulcer. She specifically denied any previous history of pancreatitis. She reported a family history of pancreatic cancer (mother in her 80's). She denied any prior h/o trauma. She drank alcohol occasionally and had a 30 pack year history of cigarette smoking.
Due to her history of diverticulitis a CT scan of abdomen and pelvis was obtained which revealed a 6.9 x 6.1 cm cystic mass in the tail of the pancreas (). Tumor markers (CEA and CA 19-9) were within normal range. Subsequently upper GI endoscopy (EGD) with endoscopic ultrasound (EUS) was performed. EGD showed an extrinsic bulge in the gastric fundus presumably secondary to pancreatic tail lesion. There was a small central ulceration and erythematous surrounding mucosa ().
On EUS, a hypoechoic 5 x 5.15 cm lesion with internal anechoic component () was seen in the tail of the pancreas. Using color flow Doppler Fine Needle Aspiration (FNA) was obtained.
Cytology showed no malignant cells and inflamed cyst contents were seen. Cyst fluid showed amylase 8433 and lipase 87352, with low CEA 2.2.
She was discharged home with a plan to repeat EUS with FNA in 3 months.
Prior to repeat EUS she presented to emergency room (ER) with massive hematemesis.
She presented to the emergency room vomiting large volume of blood. She was hypotensive, diaphoretic, and appeared pale. She was hypotensive and tachycardic with hemoglobin of 6.4, presenting vitals and labs are summarized in Tables and .
Despite aggressive fluid resuscitated profound hypotension persisted and vasopressors were commenced. She suffered pulseless electrical activity cardiac arrest; advanced cardiac life support (ACLS) was commenced; she had return of spontaneous circulation after 2 round of standard ACLS protocol. Massive transfusion protocol was initiated; she was transfused 4 units of O negative red blood cells and was continued on vasopressors.
With the previous endoscopy done 3 months ago showing gastric ulcer there was a very high clinical suspicion for an upper GI bleed related to gastric ulcer. Emergent upper GI endoscopy within hour of cardiovascular collapse showed stomach full of clotted blood limiting mucosal visualization. No clear lesion was identified. Immediate surgical consult within hour of EGD was obtained and patient was sent for emergent mesenteric angiogram.
Selective splenic artery angiogram confirmed a pseudoaneurysm with active hemorrhage (). Coil embolization was performed with 6 mm x 7 cm; 3 mm x 7 cm (2), 3 mm x 5 cm (3) Nester ® coils (6 total); postembolization angiography demonstrated no leakage from SAP as well as no forward flow in the splenic artery ().
Repeat EGD was done 5 days later for ongoing drop in hemoglobin with persistent melena. EGD showed no abnormalities in the stomach; therefore the scope was advanced into deep duodenum where a large deep ulcer was seen in the fourth part of the duodenum (). Multimodality imaging confirmed embolization coil to be in close proximity to the distal duodenum/proximal jejunum () further confirming the site of erosion of SAP in distal duodenum.
Patient developed left upper quadrant abdominal pain and fever 48 hours after splenic artery embolization (SAE); splenic infarction was suspected. This was dealt with use of narcotics for analgesia and acetaminophen for fever; broad-spectrum antibiotic was administered for 1 week. Fever gradually resolved over next 3-4 days; however pain persisted for 2 weeks. Patient was discharged home in a stable condition after 14 days. Near complete splenic infarction was confirmed at 2 months on follow-up CT scan (). No recurrent bleeding was noted at 2 and 6 months of follow-up.
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pmc-6381557-1
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A 39-year-old male presented to the emergency department after intentional ingestion of multiple objects including 50 paperclips, 50 screws, eight batteries, and seven razor blades covered in paper (.). His past psychiatric history included major depressive disorder, generalized anxiety disorder, posttraumatic stress disorder, borderline personality disorder, and pica with a history of more than twenty admissions for ingestion behaviors often requiring endoscopic retrieval. Abdominal radiograph confirmed the presence of multiple metallic objects in the stomach and small intestine which were removed endoscopically by the gastroenterologist. The patient was then admitted to the hospital's adult inpatient psychiatric unit for further care.
The patient cited anxiety and an empty prescription for alprazolam as the primary trigger leading to the ingestions. Multiple psychotropic medications, including antidepressants (sertraline, citalopram, escitalopram, mirtazapine, and bupropion), mood stabilizers (lithium and Depakote), antipsychotics (olanzapine, haloperidol, and aripiprazole), and benzodiazepines (clonazepam and lorazepam), failed to control his ingestion behaviors. His explanations for the ingestions have varied (e.g., coping mechanism for prior sexual trauma, relieving impulses, and getting out of “difficult situations”, i.e., jail) but are always nonsuicidal in nature. He denies symptoms of depression but reports multiple symptoms of anxiety including restlessness, feeling tense, and having difficulty with sleep. He denies auditory or visual hallucinations and had no outward signs of paranoid thinking.
During admission, the patient was restarted on alprazolam 2 mg three times daily in conjunction with intensive therapy including Dialectical Behavior Therapy with components of mindfulness, distress tolerance, emotion regulation, and stress management skills. While on the unit, he swallowed a clock battery, screws from the toilet, and a colored pencil. He blamed the ingestion on anxiety and concern that unit staffs were angry with him. He denied the ingestions were a suicide attempt. The patient was subsequently sent back to the emergency department for endoscopy and the objects were successfully removed. He ultimately left against medical advice and no medication changes were made.
The patient was admitted for intentional ingestion four more times that month. During his most recent hospitalization, there was concern for misuse of his alprazolam prescription and he was weaned off and started on venlafaxine 37.5 mg and hydroxyzine 25 mg three times daily as needed for anxiety. He was discharged into a partial hospitalization program for daily psychotherapy groups and medication management. At the time of this writing, he has not been readmitted for pica.
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pmc-6381571-1
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A 51-year-old man was admitted to the Emergency Room in a state of altered sensorium, with motor deficit of the lower limbs. The patient had been suffering from chronic alcohol abuse for 30 years, with an average daily intake of 700 mL/die. Physical examination revealed a Glasgow Coma Scale score of 9 (E2V3M4). No meningeal signs were present. Pupils showed normal size and were reactive to light. The patient did not suffer from diabetes, hypertension, seizure nor other significant diseases. Routine blood test and cerebrospinal fluid studies were negative. Electroencephalographic examination was normal. Brain MRI showed an area of high signal on fast-spin-echo (FSE) T2-weighted images and high signal on diffusion weighted imaging (DWI) with a decreased apparent diffusion coefficient (ADC) value of 670 x10-3 mm2/sec, observed with a region of interest size of 19 mm2, in the splenium of the corpus callosum (Figures –). On the basis of history, findings on physical examination, and MR imaging features, the diagnosis of MBD was hypothesized. He was transferred to the intensive care unit where he required noninvasive ventilation and was treated with thiamine 400 mg/day [] hydration and parenteral nutrition with vitamin supplement, so the electrolyte balance was quickly restored. We did not use steroid therapy. He showed improvement of symptoms with a good recovery in twenty days. Thirty-day follow-up brain MRI showed resolution of the abnormal callosal finding on both T2-weighted images and DWI-ADC maps (Figures –).
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pmc-6381573-1
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A 52-year-old Saudi Arab woman presented to the Emergency Department of a local hospital complaining of right upper quadrant pain accompanied by vomiting of 5 day-duration. The patient had a progressive right upper quadrant abdominal pain for the last five months that increased in severity with fatty meals radiating to the back. She had no history of jaundice, change of urine color, or weight loss. On physical examination, there was a palpable abdominal mass in the right upper quadrant that is 8 cm below the costal margin. Abdominal ultrasound showed the gallbladder to have thick wall with large irregular shaped soft tissue mass arising from the fundus, measuring 8 x 6 cm. This was seen infiltrating the surrounding sub-hepatic fat planes and inseparable from the transverse colon. There were no focal hepatic lesions; dilated intrahepatic biliary radicals or significant enlarged lymph nodes were noted.
The patient was referred to our hospital for evaluation and management. Laboratory work-up revealed normal hematological parameters. Liver function tests revealed an elevated GGT (65 unit/liter), low albumin (32 g/L) and unremarkable total bilirubin, alkaline phosphatase, ALT, and AST. Renal function tests were within normal limits. Serum carcinoembryonic antigen (CEA) and α-fetoprotein (AFP) were normal, but carbohydrate antigen 19-9 (CA 19-9) was elevated (154.33 IU/ml). CT scan of the abdomen showed a gallbladder mass with huge exophytic component, displacing the surrounding structures with few small portal lymph nodes (). No hepatic lesions were identified and a few small bilateral pulmonary nodules of uncertain significance were noted. The patient underwent laparotomy with radical cholecystectomy, transverse colectomy, distal gastrectomy, omentectomy, and liver bed resection.
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pmc-6381577-1
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A 52-year-old man presented to the emergency department with 3-day history of fatigue, dizziness, dark stools, and mild generalized abdominal pain. There was no history of hematemesis, hematochezia, bleeding from any other site, or any similar prior episodes. There was no history of liver disease or NSAIDs. Patient was taking oral rivaroxaban 20 mg/day. His past medical history was significant for extensive portomesenteric thrombosis involving superior mesenteric, splenic, main portal, and right portal veins which was diagnosed 2 years ago. Extensive workup done for the cause revealed heterozygous mutation of factor V Leiden. Another workup showed normal protein C, protein S, and antithrombin III levels. Autoimmune workup, hepatitis B, hepatitis C, and HIV serology were all negative. The patient has no family history of any venous thromboembolism or other bleeding disorders.
On clinical examination he was hemodynamically stable and not in distress. Physical examination revealed marked pallor and normal abdominal examination. Digital rectal examination showed green stool with no evidence of melena at the time of examination.
Laboratory tests revealed a hemoglobin level of 7.5 g/dl, platelet count 210,000/ul, INR 1.1, urea 6.6 mmol/l, creatinine 90 umol/l, and normal liver function tests. He was admitted as a case of probable GI bleeding. His rivaroxaban was stopped. He received transfusion of packed red blood cells for symptomatic anemia. Urgent esophagogastroduodenoscopy (EGD) was done and revealed normal esophagus and stomach; however, a suspicious area distal to 3rd part of the duodenum was seen but could not be reached by the normal EGD scope. Subsequently, push enteroscopy was attempted in the same setting and revealed multiple varices in the proximal jejunum affecting a short segment with red wale signs and submucosal feeding veins (Figures –)
CT abdomen with contrast was sought. It demonstrated total occlusion of superior mesenteric and splenic veins with well-established collateral venous circulation and reestablishment of the portal circulation at the region of porta hepatis (Figures , , and ).
He was started on IV pantoprazole infusion and then given IV terlipressin for 3 days along with ceftriaxone 1 g/day for 5 days after the enteroscopy findings. His anticoagulation with rivaroxaban was stopped. A multidisciplinary team (MDT) meeting between general surgeon, interventional radiologist, internist, and gastroenterologist was arranged. The agreement was to surgically resect the affected small bowel segment for definitive therapy. Patient was observed in the hospital for few days and did not have any further bleeding or drop in his hemoglobin. After explaining all the benefits and risks of surgery to the patient, he decided on conservative therapy. After discussion with the hematologist, patient was kept off anticoagulation considering his high risk of GI bleeding as he did not opt for surgery. Patient was discharged home with follow-up appointment in general surgery, hematology, and gastroenterology clinics. Patient was restarted on anticoagulation with Dabigatran 110 mg twice daily by the hematologist after 4 months of bleeding event. Reduced dose was chosen due to risk of GI bleeding and the drug was chosen due to availability of the antidote idarucizumab. There was no evidence of bleeding again after resumption of the anticoagulation. Patient was doing well after eight months of follow-up, and his hemoglobin level normalized.
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pmc-6381583-1
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The patient is a 7-month-old twin boy who presented to our institution's emergency department with increased work of breathing and desaturations (70 s). He was born at 33 weeks gestational age with Down syndrome, developed chronic lung disease (CLD) of prematurity, and was also found to have a moderate size secundum atrial septal defect (ASD) as a newborn. Prior to the current illness, he had been in the hospital multiple times for failure to thrive and respiratory distress, requiring mechanical ventilation with high amount of supplemental O2 and inhaled nitric oxide (iNO) as he developed pulmonary hypertension (PH). Echocardiography showed progressive enlargement and hypertrophy of his right ventricle and at times bidirectional shunting across his ASD. A diagnostic cardiac catheterization as a preoperative evaluation was performed, which showed elevated pulmonary vascular resistance indexed (PVRi) at baseline (8.8 WU·m2), which decreased with inhaled oxygen alone and iNO (3.8 WU·m2). Additional catheterization data at baseline condition showed a right atrial mean pressure of 6 mmHg, right ventricular end diastolic pressure of 6 mmHg, and pulmonary artery pressure 51/19 mmHg with mean 32 mmHg. The patient was started on home O2 therapy with nasal cannula. The current hospitalization occurred prior to a planned fenestrated patch repair of his ASD.
He was initially admitted to the general ward and soon transferred to the pediatric ICU for severe hypoxemic respiratory failure requiring mechanical ventilation. Respiratory syncytial virus (RSV) infection was diagnosed with the positive antigen test. He continued to have paroxysmal severe hypoxic events compatible with PH crisis. He was treated with sedation and neuromuscular paralysis, increased FiO2, optimization of O2 carrying capacity with packed red blood cells transfusions, and iNO. Milrinone infusion was added as the right ventricular function was depressed on echocardiogram (TAPSE 6 mm, Z-score −4), which demonstrated evidence of systemic to suprasystemic right ventricular pressure and bidirectional shunting across the ASD (Figures and ). No other cardiovascular intravenous drips were given during the ICU stay. Sildenafil was initiated enterally and escalated to maximal dose (2 mg/kg/day) without hemodynamic compromise. He was on diuretic therapy (bumetanide infusion up to 10 mcg/kg/hr) as chest X-ray demonstrated evidence of bilateral interstitial edema with bilateral pleural effusions on admission () and confirmed by chest ultrasound. Bilateral chest tubes were placed after failure of diuretic therapy to reduce effusions on hospital day #6. The drained fluid was milky in appearance bilaterally, with a white blood cell of 1,004/mm3 with lymphocyte predominance (88%) and elevated triglycerides (1008 mg/dl), and hence a diagnosis of chylothorax was made. Low IgG level (249 mg/dl) and hypoalbuminemia (2.5 g/dl) were noted at the time of pleural effusion drainage. Intravenous immunoglobulin and 25% albumin solution were administered. His feeding formula was changed to medium-chain triglyceride formula. The milky drainage became serous; however, the volume of chest tube drainage remained unchanged. Enteral feeding was discontinued and total parenteral nutrition was initiated, which decreased the volume of pleural effluent but small to moderate amount of pleural effusion was intermittently observed by chest X-ray for over sixty three days until the patient's death. Venous Doppler ultrasound of the upper extremities and the neck was performed on hospital day #7 and 4 weeks later, and compression, thrombosis or obstruction of the superior vena cava, and upper extremity were ruled out. A central venous catheter was placed in the right jugular vein soon after admission and was removed on hospital day #7 and replaced by a peripherally inserted central line. The patient required chest tubes for drainage until hospital day #22. Since then, intermittently small to moderate pleural effusion was observed by chest X-ray, but chest tubes were not placed.
He continued to be critically ill with persistent hypoxemic respiratory failure without improvement in PH with several PH crisis episodes. Therapy with an endothelin (ET) receptor antagonist (Bosentan) was added. The hospital course was complicated by bacterial tracheitis from Pseudomonas and E. coli. The patient remained on mechanical ventilator support for 6 weeks due to failed weaning of ventilator support from hypoxemia despite high levels of supplementary FiO2 and iNO. Cardiac catheterization performed 6 weeks after admission showed PVRi of 7 WU m2 on 100% FiO2 and 20 ppm of iNO under general anesthesia, pulmonary venous desaturation, and bidirectional shunting through ASD. Additionally, interval increases in right atrial pressure (mean 13 mmHg), right ventricular end diastolic pressure (12 mmHg), and pulmonary artery pressure (52/24 mean 36 mmHg) were noted. Given his severe and irreversible lung injury from mechanical ventilation in addition to baseline chronic lung disease, he was deemed not a candidate for lung transplant. Considering that the patient had Eisenmenger physiology due to severe PH and poor prognosis, the palliative care team was also consulted. Weaning from the mechanical ventilator was tried multiple times, but failed. At 9 weeks of his ICU hospitalization, he developed severe hypoxemia unresponsive to medical therapy that ultimately caused his death.
An autopsy showed bilateral small straw-colored pleural effusions (right 17 ml and left 10 ml), and the lung parenchyma was red-brown, poorly aerated, and diffusely congested with focal consolidation. The heart had an ASD (0.8 × 1.2 cm) with right ventricular hypertrophy secondary to PH. Microscopically, both lungs showed subpleural cysts lined by pneumocytes and containing macrophages, sloughed pneumocytes, and neutrophils. Acute multifocal bronchopneumonia was present with neutrophils in the bronchioles and alveoli. Chronic interstitial lung disease is diffusely present with alveolar septal thickening, capillary disorganization, and hemosiderosis. Small pulmonary arterial branches demonstrate moderate to marked medial smooth muscle hypertrophy with lumen narrowing, while large pulmonary arteries were normal with minimal changes. No lymphatic dilatation was observed on H&E or D2-40 immunostained slides; therefore, lymphangiectasia was ruled out (). From the autopsy results, hypoxia due to progressive PH was considered as a cause of death.
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pmc-6381618-1
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A 19-month-old Ethiopian baby boy from Addis Ababa, Ethiopia, presented with a left-sided body weakness of 4 days’ duration to Tikur Anbessa Specialized Hospital. The weakness of his left upper and lower extremities was noted by his mother upon awakening from sleep. He also had a low grade intermittent fever and weight loss (not quantified) for the preceding 1 month. His mother had symptoms of cough, sweating, and weight loss for the past 3 months for which she did not seek medical attention.
He was born at term to a primiparous woman, diagnosed as having HIV infection since her second month of pregnancy. Antiretroviral treatment (ART) was initiated along with diagnosis and she delivered via caesarean section. She opted for exclusive breast feeding. The newborn was given nevirapine prophylaxis immediately after delivery but both the mother’s and neonate’s ART were discontinued on the third day of life due to poor social support for the family. The child did not receive any further care for exposure to HIV infection. He had received all the vaccines of the national immunization schedule. His developmental milestones were optimal.
On physical examination, his vital signs were within normal limits. He was stunted with height measuring 71 cm (less than 5th centile for age). He had pale conjunctivae with 1.5 by 1 cm right and left axillary lymphadenopathies. He was fully conscious. A neurologic examination revealed left-sided hypertonia, hyper-reflexia, and weakness (left upper extremity 0/5 and left lower extremity 3/5).
A complete blood count showed white blood cell (WBC) of 5700/mm3 with 64% neutrophils and 23% lymphocytes. His hemoglobin was 7.6 gm/dl, mean corpuscular volume (MCV) 66.1 fl, and platelets 261,000/mm3. Erythrocyte sedimentation rate (ESR) was 107 mm/hour and HIV serology test was reactive. Baseline tests showed a CD4 count of 320/mm3, CD4 percentage of 14%, and a viral load of 690,000 copies/ml. Serum Venereal Disease Research Laboratory (VDRL) test was non-reactive. Cerebrospinal fluid (CSF) analysis had no cells, with normal CSF glucose and protein. CSF VDRL was non-reactive. Organ function tests and lipid profiles were within normal limits. Coagulation profile tests showed a prothrombin time (PT) of 14.4 seconds, activated partial thromboplastin time (PTT) of 23.1 seconds, and international normalized ratio (INR) of 1.13. Testing for serum protein C and protein S levels was not possible in our hospital.
A chest X-ray revealed bilateral, mainly central, nodular opacities. Echocardiography was normal. Multiple hypoechoic splenic lesions and periportal lymphadenopathy were evident on an abdominal ultrasound. A computed tomography (CT) scan of his brain (Fig. a–c) showed right temporoparietal M1 segment of middle cerebral artery territory acute ischemic infarct.
A CT angiography of his brain confirmed the above findings along with hemorrhagic transformation.
A diagnoses list of stunted, disseminated TB (lung, spleen, abdominal lymph nodes, and brain), iron deficiency anemia, left-sided hemiparesis due to ischemic stroke possibly due to tuberculous vasculitis, and a newly diagnosed HIV infection was made. Co-trimoxazole prophylaxis, anti-TB treatment (isoniazid, rifampicin, pyrazinamide, and ethambutol) along with steroids and pyridoxine, aspirin, and iron supplementation were initiated as well as physiotherapy. Within 2 weeks of starting treatment, ART with abacavir, lamivudine and lopinavir/ritonavir was started.
He has currently completed his anti-TB treatment (2 months of isoniazid, rifampicin, pyrazinamide, and ethambutol and 10 months of isoniazid and rifampicin) as well as being on ART. His examination shows normal tone and reflexes with his left upper extremity having a power of 3/5 but his left lower extremity having a power of 5/5.
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pmc-6381626-1
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A 67-year-old man presented to the emergency room for acute chest pain, dyspnea, and chills. On further questioning, he reported 1 month of nausea, vomiting, and dysphagia and an unintentional 90-lb weight loss over the past year. Social history was notable for tobacco abuse of one pack per day and occasional alcohol use. Family history was significant for unspecified malignancy in both parents and a daughter, as well as gastric cancer in a brother and granddaughter. On exam, he was tachycardic (heart rate 110 beats/min), hypotensive (blood pressure 86/68 mmHg), and tachypneic (respiratory rate 40 breaths/min) and had diffuse left costal chest tenderness. Given his history of hypertension, cardiac workup was performed and was negative. Computed tomography (CT) of the chest was obtained and revealed an esophageal perforation and thickening of the gastric pylorus (Fig. ), for which Thoracic Surgery was consulted. A left pleural 14-French (Fr) pigtail catheter was placed at the bedside to alleviate a large hydropneumothorax with tension component, and the patient was taken to the operating room emergently for endoscopic evaluation, wide drainage, and possible stenting.
Esophagogastroduodenoscopy with fluoroscopy (Video 1 ) showed a large perforation of the distal esophagus just proximal to the gastro-esophageal (GE) junction, a large fluid- and food-filled stomach, and a large ulcerative pre-pyloric mass (Fig. ) which was biopsied. The esophageal perforation comprised approximately 30% of the circumference, was over 4 cm in length, and freely communicated with the posterior mediastinum and left pleural cavity (Fig. a). The endoscope was navigated across the perforation and passed alongside the pigtail catheter, using it to exteriorize the guidewire and endoscopic graspers. No 10 Jackson Pratt and 24-Fr Blake drains were then guided endoscopically across the chest wall into posterior mediastinum and sub-pulmonic pleural cavity directly adjacent to the luminal perforation to ensure wide, direct drainage. Bilateral percutaneous postero-apical pleural drainage tubes were then placed. The esophageal perforation was covered with a 23 × 120 mm fully covered stent (Alimaxx-ES, Merit Medical Systems, Utah). A nasogastric tube and 20-Fr percutaneous gastrostomy tube were placed to facilitate decompression in the setting of gastric outlet obstruction. Postoperatively, the patient was transferred to the intensive care unit where he was treated for septic shock with intravenous antimicrobial therapy and supportive care.
The biopsy pathology and touch preparation cytology were discordant, so the patient was taken back to the operating room for repeat endoscopic biopsies when he was clinically stable. At this time, a temporary 23 × 100 mm covered stent was placed in a transpyloric position to alleviate the gastric outlet obstruction. Final pathology confirmed adenocarcinoma (Fig. ).
Approximately 2 weeks later, the pyloric stent had started to migrate distally. In the absence of clinical and radiologic evidence of metastatic disease, surgical staging with possible concurrent oncologic resection was discussed with the patient and family, who elected to proceed. A distal gastrectomy with Billroth II reconstruction was performed, along with the removal of the temporizing transpyloric stent. Given the urgent nature of the procedure in a chronically ill patient still recovering from sepsis, extensive lymphadenectomy was not performed. Final pathology was pT2 pN1 (AJCC eighth edition), with a 1.8-cm moderately differentiated gastric adenocarcinoma with negative margins, and two of two lymph nodes evidencing metastatic disease including focal extra-nodal extension.
The patient required hospitalization for nearly 3 months for infection control, nutritional support, and physical rehabilitation. Four serial endoscopies were performed during this time for esophageal evaluation (Fig. b, c) and transluminal drain adjustments. The esophageal stent was noted to be in an appropriate position and was removed prior to discharge to a skilled nursing facility. After his functional status improved, the patient was referred to the Medical Oncology and Radiation Oncology for evaluation for adjuvant therapy for locally advanced disease. He is currently tolerating a regular diet and is fully ambulatory without support.
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pmc-6381633-1
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We present the case of a 29-years-old woman with history of atopic eczema and contact dermatitis by nickel sulfate, subclinical sensitization to mites and cypress, and cholinergic urticaria. She developed several local and systemic type I hypersensitivity reactions including a severe anaphylactic reaction to different pharmacologic and cosmetic products whose excipients included PEGs.
Two years before consultation, the patient developed generalized urticaria, dizziness, and dyspnea 30 min after using a skin antiseptic (Betadine® solution: iodopovidone and laureth-9 as excipient). Symptoms improved after treatment with dexchlorpheniramine and methylprednisolone. Six months later, 30 min after swallowing 30 ml of a cough syrup (GripaNait®: paracetamol, dextromethorphan, and doxylamine as active ingredients and several excipients, including macrogol 6000), she developed generalized pruritus, dyspnea, severe dizziness, seizures, loss of consciousness, and respiratory arrest, requiring urgent treatment with adrenaline, plasma expanders, and parenteral corticosteroids. In the last 7 years she developed itchy maculopapular rashes in contact with some moisturizing skin creams containing PEG-75 and PEG-100. In May 2017, she reported generalized urticaria after applying soap to a tattooed area and wheals after applying a moisturizing creams on intact skin. In November 2017, she experienced swelling of the gums and tongue after using a toothpaste for which she did not need treatment.
An allergological study was carried out with her prior consent. Levels of C3, C4, IgA, IgG, IgM, and tryptase were all within normal range. Prick test and specific IgE were positive for mites and cypress, but negative for other aeroallergens, latex, anisakis, and several foods. Specific IgE was also negative for ethylene oxide. We detected 1626 IU/ml of total IgE.
Prick tests with GripaNait® (Fig. a) and Betadine® gel and solution were positive. Prick tests with each of their ingredients separately were negative, but positive for PEGs and doxylamine. To test doxylamine separately, we used Dormidina® 25 mg. Doxylamine is a histamine H1 receptor antagonist belonging to the ethanolamines group, such as diphenhydramine. To date few cases of allergy to these antihistamines have been described. One of such cases developed anaphylaxis to diphenhydramine included in the intranasal drops Coldistan® []. It is important to remark that Coldistan® contains PEG as excipient.
We noticed that the preparation of doxylamine used in our prick test (Dormidina® 25 mg) contained PEG 8000. For this reason, we retested doxylamine prick test with Cariban® tablets, a drug used as antiemetic that contains doxylamine plus pyridoxine, but without any PEG. Prick test with this drug resulted negative, as well as other antihistamines without PEG such as chlorpheniramine, diphenhydramine tablets, hydroxyzine, mepyramine, cetirizine solution, bilastine, and loratadine. Table shows other products tested in our study. Of note, only products containing PEGs resulted positive in the prick tests. We also performed a basophil activation test (BAT) to the products listed in Table . Only products containing PEGs resulted positive, except the toothpaste containing PEG-6 that was negative, probably due to cytotoxic effects. All tests were compared with healthy volunteers resulting negative in all of them (Fig. ). Negativity of BAT due to toxic effects was controlled by assaying a battery of decreasing concentrations of antigen. Non-specific activation was ruled out by testing healthy volunteers.
As all the products testing positive in the allergy work up contained PEGs (Table ), its involvement as a causative agent in these reactions was confirmed with pure PEGs of different molecular weights and PEG-derivatives (poloxamer 407 contained in Ziverel® and polysorbate 80) according to the algorithm proposed by Wenande et al. [] for the investigation of patients with suspected immediate-type PEG hypersensitivity. PEG used was of analytical grade and purchased from Merck (Merck, Darmstadt, Germany). The test was negative with PEG 1500 1% and 10%, but positive with PEG 4000 1% (Fig. b). PEG-derivatives also resulted positive in the prick test. BAT resulted positive with PEG 4000 1% and PEG-derivatives (Fig. ). Controls were done in healthy volunteers resulting negative in all of them. Taking into account that there are studies that have reported delayed hypersensitivity reactions to PEGs [], a patch test was performed with Betadine® solution, GripaNait®, Ziverel®, polysorbate 80, and PEG 4000 10%, but it was negative in all products.
The patient was diagnosed with immediate hypersensitivity IgE-mediated to PEG and its derivatives of different molecular weights contained in pharmacological and cosmetic products, with severe anaphylaxis to cough syrup (containing PEG 6000), moderate anaphylaxis to a skin antiseptic (containing PEG-9), contact urticaria or generalized urticaria to moisturizing skin creams (PEG-75 and PEG-100, respectively), contact angioedema by toothpaste (PEG-6), and subclinical skin and in vitro (BAT) sensitivity to poloxamer 407 and polysorbate 80. Interestingly, she does not currently show problems with foods that may contain such products. After recommending avoidance measures to such products by providing her with a list of PEG-free products and their derivatives, she has not experienced any further allergic reactions in the last year. It was recommended to carry on an emergency kit including an auto-injectable adrenaline shot.
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pmc-6381653-1
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A 48 years old diabetic male complained of intermittent high fever associated with chills and rigor, abdominal discomfort and generalized body ache for more than a year. He had visited several hospitals with these complaints and had already been treated with several antimicrobial agents that included antitubercular and antimalarial drugs. However, his symptoms persisted.
He had also visited our hospital six months ago when he was diagnosed as Brucellosis (based on Brucella abortus antibody titre > 1:320) with splenic abscess. He was then treated with doxycycline and rifampicin for three weeks. It should be noted that aminoglycoside was not preferred due to deranged renal function test. Eventually, fever subsided and patient remained asymptomatic for three months. Unexpectedly, the patient re-developed high fever and visited our center again. This time he complained of accompanying pain in the right elbow that was consecutive for five days. A thorough examination revealed that he was anemic but his respiratory and gastrointestinal findings were normal. The lateral aspect of right elbow was tender; however, no swelling or redness was noticeable. In addition, blood examination revealed normocytic normochromic anemia, raised inflammatory markers like ESR and C-reactive protein, deranged renal function test, raised random blood sugar (32 mmol/L) and raised Brucella Ab titre (both IgG and IgM). His chest radiography showed infiltration in left upper and middle zone of lung whereas the ultrasonography of abdomen showed splenomegaly. The patient was treated with ceftriaxone and flucloxacillin and his blood sugar level was maintained to normal by intravenous insulin. But fever didn’t subside instead an abscess developed in lateral part of his right elbow which was drained and pus was sent for evaluation in microbiology laboratory.
The patient’s condition had begun to deteriorate after fifth day of admission, which accompanied high fever (5 spikes with maximum 104 °F), tachycardia, tachypnoea and decreased oxygen saturation below 60%. Therefore, he was immediately shifted to intensive care unit and managed.
Meanwhile, the pus sample showed gram negative bipolar bacilli in the gram stain. The organism formed off white wrinkled colony on blood agar and pinkish wrinkled colony on MacConkey agar at 48 h of incubation. Various biochemical tests were performed that suggested the organism to be Burkholderia pseudomallei which was susceptible to ceftazidime, meropenem and doxycycline but resistant to amoxicillin with clavulanic acid, polymyxin B, colistin and aminoglycoside.
The patient had traveled to Malaysia ten years ago for employment and stayed there for four years, after which he returned to Nepal and indulged in farming. His travel and occupational history accord with the diagnosis of melioidosis. Thus, the patient was treated with intravenous meropenem for the next 28 days. For eradication phase, oral cotrimoxazole and oral doxycycline was prescribed for three months.
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pmc-6381694-1
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A 32-year-old woman (height, 150.8 cm; weight, 50.7 kg; body mass index, 22.3 kg/m2) had been treated with continuous corticosteroids of up to 10 mg/day for Sjögren’s syndrome since age 8 (Fig. ). She had no history of alcohol abuse. At age 32, she had groin pain without any antecedent trigger activities. Plain radiography at the same month after onset did not show obvious abnormalities (Fig. a). T1-weighted magnetic resonance imaging (MRI) at 3 months after the onset of pain clearly showed a low-intensity band within the left femoral head (Fig. b). We diagnosed her with ONFH (type C-2, stage 1) based on the Japanese Investigation Committee (JIC) classification [, ]. There was no obvious abnormality in the right femoral head.
At age 33, ITP developed, which was treated by corticosteroid dose increase (40 mg/day) followed by oral corticosteroid therapy (30 mg/day) for 1 year. After the ITP improved, continuous corticosteroid treatment was administered for Sjögren’s syndrome and ITP using a similar regimen as before (10 mg/day). At age 34, 1 year after the corticosteroid dose was increased, T1-weighted MRI demonstrated a low-intensity band within the right femoral head (Fig. ). Then, she was diagnosed with right ONFH (type C-1, stage 1).
Serum aspartate aminotransferase and alanine aminotransferase levels were elevated after ITP onset and corticosteroid dose increase, and these levels continued to increase over 1 year (Fig. ). To rule out autoimmune hepatitis associated with ITP, she underwent a liver biopsy 1 year after the corticosteroid dose was increased. Subsequently, she was diagnosed with nonalcoholic fatty liver disease (NAFLD) induced by corticosteroid treatment (Fig. ). After the corticosteroid dose was tapered to 10 mg/day, serum liver function improved.
Written informed consent for publication of the case was obtained from the patient.
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pmc-6381698-1
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An 80-year-old Japanese man with a history of hypertension presented to the emergency department for left shoulder pain. Although he was alert and conscious, his systolic blood pressure was 80 mmHg and his pulse was 204 beats/minute. A 12-lead electrocardiogram (ECG; Fig. a) showed ventricular tachycardia (VT). Electrical cardioversion was required because intravenous amiodarone failed to terminate the VT. His baseline ECG 1 month prior to this admission (Fig. b), which was recorded during hospitalization for appendicitis in another center, showed negative T waves in V1–V4 (Fig. b). Two-dimensional echocardiography showed normal left ventricular wall motion but severely reduced wall motion throughout the right ventricle. The right ventricular outflow tract was dilated on both the parasternal long (33 mm) and short (40 mm) axes and the right ventricular fractional area change was 26.2%. Coronary angiography was normal, but right ventriculography showed a right ventricular aneurysm (Fig. a, Additional file 1: Movie 1). The patient had no history of recent endurance exercise or participation in sports. Furthermore, a detailed family history revealed no cases of ARVC or sudden cardiac death. Although the patient didn’t give consent to endomyocardial biopsy, cardiac magnetic resonance imaging suggested diffuse areas of fat tissue in the right ventricular wall and also revealed late gadolinium enhancement in both right and left ventricular walls (Additional file ).
Because this case met three major criteria (right ventricular aneurysm, inverted T waves in right precordial leads, and VT of left bundle-branch morphology with a superior axis), a clinical diagnosis of definite ARVC was established []. Regarding differential diagnosis, we considered cardiac sarcoidosis which can mimic ARVC. Although 18F fluorodeoxyglucose (FDG) positron emission scanning can be positive in some ARVC cases [], cardiac sarcoidosis was deemed unlikely because abnormal FDG uptake was not observed in this patient (Additional file ).
We recommended an implantable cardioverter-defibrillator; however, the patient rejected this suggestion and underwent an electrophysiological study and catheter ablation. A three-dimensional electroanatomical voltage map (Carto, Biosense-Webster Inc., CA, USA; Fig. b) during sinus rhythm showed an extensive low voltage zone in the right ventricle. Linear ablation along the low voltage zones with the pace mapping technique was performed. We then continued oral administration of amiodarone. The patient has been followed up for 3 years without recurrence of VT.
Genetic analysis identified a GATG duplication in exon 8 of PKP2 (1725_1728dupGATG), which causes a frameshift and subsequent premature termination of translation (R577DfsX5) (Fig. c). The variant was not identified in the patient’s two daughters (51 and 49 years old) and is unknown in his parents because they are both deceased. Although this pathogenic variant is not reported in the genome aggregation database (gnomAD), previous reports have described this variant in Japanese ARVC patients [, ].
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pmc-6381704-1
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The patient was a 72-year-old female. When she was 64 years old, a poorly-marginated black legion was found in her left thigh, which was gradually enlarged. Three years after the appearance of the skin legion, skin biopsy was performed in our hospital and she was diagnosed with malignant melanoma. Positron emission computed tomography showed left inguinal lymph node metastases. She was treated with DAVFeron therapy (dacarbazine; 120 mg/m2/day at day 1–5, nimustine; 60 mg/m2/day at day 1, vincristine; 0.6 mg/m2/day at day 1, and interferon β; 3 million units/day at day 1–5), which was followed by resection of the skin legion and intra-pelvic lymph node dissection. At 71 years of age, liver metastases and intra-pelvic lymph node metastases appeared, thus treatment with nivolumab 2 mg/kg every 3 weeks was initiated (day X).
Six months after the day X, biochemical examination of blood revealed mild thyrotoxicosis, which did not need any medical treatment (Fig. ). After that, hypothyroidism accompanied by general malaise appeared [thyroid-stimulating hormone (TSH); 29.3 μU/mL, free T3 (FT3); 2.3 pg/mL, and free T4 (FT4); 0.3 ng/dL] (Fig. ). Anti-thyroperoxidase antibody and anti-thyroglobulin antibody were negative. She was diagnosed with primary hypothyroidism associated with nivolumab. Replacement with levothyroxine (LT4) was started, the dose was gradually increased to 75 μg/day, and thereafter her hypothyroidism was well-controlled (Fig. ).
Eleven months after the day X, the treatment was discontinued because of expansion of liver metastases. After that, best supportive care was performed to her disease. Four months after the discontinuation of nivolumab, general malaise and appetite loss appeared. Two months later, she was admitted to our hospital because these symptoms were worsened, which were accompanied by hyponatremia (Na 120–127 mEq/L) and hypoglycemia (fasting plasma glucose 62 mg/dL). Her ACTH and cortisol levels were low (9.6 pg/mL and undetectable, respectively). Challenge tests were performed to examine the secretion of anterior pituitary hormones. The responses of ACTH and cortisol to corticotropin-releasing hormone were disappeared, although the responses of other anterior pituitary hormones were preserved (Fig. ). Thereby, she was diagnosed with isolated ACTH deficiency. Any lesion to cause hypopituitarism was not observed in the brain including the hypothalamus and the pituitary gland by enhanced computed tomography and magnetic resonance imaging. Her symptoms, hyponatremia, and hypoglycemia were rapidly improved after replacement of hydrocortisone (Fig. ).
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pmc-6381745-1
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In September 2017, an 84-year-old male smoker, who had a history of curative resection of esophageal squamous carcinoma (pT3N0M0, phase IIA, moderately differentiated) 12 months before, presented with aggressive dysuria and penis pain for 1 month. He was in good performance status (ECOG = 1) with stage 2 hypertension for 30 years, which was under control by regular Nifedipine GITS. His physical examination revealed roughly normal appearance of the penis but several smooth, hard, fixed nodules (diameter from 0.5 cm to 2.5 cm) in the right penile corpus cavernosum, which compressed the penis urethra(Fig. a). MRI pelvis protocol scanning confirmed these masses, but did not detect any obvious metastasis in pelvic lymph nodes, bones or lumber, sacral vetebras,(Fig. d). Gastroscopy with biopsy at the anastomosis detected no sign of local recurrence, and there was no radiographic evidence of pulmonary or mediastinal metastases by CT scan. After the failure of urethroscopy, retrograde urethrography showed a 2 cm-length urethrostenosis about 5 cm proximal to external orifice(Fig. b), and he was catheterized (F12, Foley) in case of acute urinary retention. Ultrasonic guided biopsy (Fig. c) from one of the nodules diagnosed metastatic squamous carcinoma from the primary in the esophagus(Fig. e). IHC revealed positive expression of CK8/18, CK5/6, P40, while negative expression of CK7, CK20. He refused positron emission tomography scan with CT, penectomy or chemotherapy. Then after paracentetic suprapubic cystostomy, we offered him accurately modulated conformal radiotherapy (total radiation absorbed dose: 6000 cGy/30 times) and non-steroidal antiinflammatory drugs (NSAIDs) to alleviate the penis pain. But 4 weeks later, the hard nodules in penile corpus cavernosum progressed; furthermore he developed severe back pain. MRI detected metastasis in the 4th and 5th lumber vertebrae. Since he still rejected further chemotherapy or radiotherapy, we treated him palliatively with paraspinal nerve block and three ladder analgesic programs of cancer to temporarily relieve the pain. After 10 weeks, he presented to us with cough, chest pain and recurrent dysphagia. CT scan revealed pulmonary infection, metastasis in both lungs and suspicious local recurrence in esophagus. He was discharged when pulmonary infection was cured, and the therapeutic regime turned to hospice care. In January 2018, he died of multiple metastases and cancer cachexia.
We performed a search using PubMed and Chinese National Knowledge Infrastructure (CNKI), which offers medical literature research in China. As mentioned above, to the best of our knowledge only 9 cases of penile metastasis from esophageal cancer have been reported from 1989 to 2018. From these 10 cases, including the present and previous reports, we analyzed the clinical feature of the primary (Table ) and the metastatic cancer (Table ) in order to get some information for further study about this disease.
The average age was 58.1 ± 3.8 years, ranging from 40 to 84 years. Concerning the treatment to primary cancer, curative resection was conducted in 5 cases, partial esophagectomy in 2, chemotherapy and/or radiotherapy in 3. The pathological diagnoses of these primary cancers were exclusively squamous cell carcinoma, of which moderated differentiated account for 50% (5/10). The TNM stages of the primary cancer were pathological or clinical T3N0M0 to T4N1M1, which indicated the primary cancers were advanced, and metastatic when admitted in 4 cases. The time of penile metastasis since primary cancer diagnosed varied a lot, and the mean time was 9.3 ± 2.7 months, ranging from concurrent to more than 24 months. The clinical manifestation included painless (4/10) or painful mass (3/10), necrosis in glans with pain (2/10), dysuria (4/10), and priapism(2/10). The metastatic site could locate in any portion or the full length of penile corpus cavernosum, but none reported in cavernous spongiosum, skin or foreskin. Furthermore, metastases in other organ or lymph node were reported simultaneously in 6 cases. The present case reported the penile metastasis ad the first site and successively metastasis to other organs in 3 months The prognosis was dismal regardless of the methods of treatment to metastases, since the survival time was 5.4 ± 1.4 months (ranging from 1 month to 12 months).
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