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pmc-6332862-1
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Female 14.5 years old. Delivered full term, by emergency C-section, due to lack of fetal movement, weighing 2.971 Kg, 48 cm long and 33 cm head circumference. Neonatal period had no complications. From the neonatal period onward, she showed difficulty to breastfeed, with low weight gain. At 9 months old, she had myoclonus-atonic type seizures with sudden falling of the head and trunk. Initially precipitated by fever, these seizures became afebrile and daily, several times a day, and were controlled after substituting phenobarbital for sodium valproate (VPA), in low doses. The EEG tests initially showed focal spikes (centro-temporal regions) and only at 4 age, one EEG test showed a theta rhythm (4-5 Hz) in the temporo-occipital regions (T5-O1; T6-O2). At the age of 4 years and 8 months, after remission of seizures for 3 years, and normal EEG tests, VPA was suspended. Starting from 6 years of age, the EEG tests showed persistence of several bursts of irregular generalized polyspike-wave (PSW) and spike-wave discharge (SW), lasting 1–3 s. (Fig. a-p). Despite persisting abnormal EEGs, patient has not presented relapse of seizures and is not on medication.
Patient presented with recurrent otitis episodes and developed conductive hearing loss in left ear. A computed tomography scan of the mastoid showed signs of otomastoiditis in the left ear with obliteration of Prussak’s space and cholesteatomatous process. Orthodontic evaluation conducted at 8 years of age showed dolichofacial pattern, maxillary protrusion, absence of lip seal, delayed eruption of permanent teeth, besides size increase of upper central incisors, with extra mamelar structures and whitish material of incisors and other teeth, compatible with hypoplasia (Fig. a, b). Cone-beam computed tomography of right oral lower-posterior region at 14.5 years of age, revealed dental units partially erupting and the presence of mixed-aspect images located between the dental roots, suggesting bone dysplasia (Fig. ). The skeletal X-ray assessment showed inversion of physiological cervical lordosis (Fig. c); deviation of left dorsal axis, accentuated thoracic and lumbar lordosis and concealed spina bifida at L5/S1 (Fig. f). The proband has also shortening of the distal phalanx of the 5th finger, clinodactyly of the 2th and 5th (Fig. d, e); myopia; bifid uvula with submucous cleft palate; weight and height growth curve below percentile < 5. Neuropsychological analysis at age 8 showed IQ of 73.
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pmc-6332862-2
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Female 13 years old. Showed normal neurological development. At 12 months, she had the first febrile seizure. She had recurring febrile seizures kept under control with low doses of VPA. After 3.8 years with no relapse of seizures and normal EEGs, VPA was suspended. At age 8, the same electroencephalographic pattern observed in her sister appeared on the EEG (Fig. a-p), with persistence of bursts of irregular generalized polyspike-wave (PSW) and spike-wave discharge (SW), less frequent and with shorter extent, with no relapse of seizures and no medication. She presents normal neuro-psychomotor and weight-height development, and an absence of dysmorphic and radiologic alterations.
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pmc-6332900-1
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On a hot spring day, a 45-year-old man was found unconscious outside of his house after having spent about 5 h mowing grass. On admission, the patient was in a deep coma, his axillary body temperature was elevated to 41.9 °C (42.3 °C in the ambulance), and his respiratory and heart rates rose to 30 and 176 bpm, respectively. As initial treatments for this apparent heat stroke patient, we performed an immediate tracheal intubation under general anesthesia along with cooling by iced gastric lavage, cold fluid administration, and an intravascular cooling using Thermogard™. About 4 h after admission, his core temperature fell to 37 °C.
For more than 10 years, he had been taking antipsychotics to treat his schizophrenia, but his disease state had been stable and no changes had been made to the drugs or their dosages. Furthermore, there were no signs of muscle stiffness suggesting neuroleptic malignant syndrome. His procalcitonin level was low (0.087 ng/mL, Fig. a), and the bacteriological examinations showed no evident infection. Other examinations, including whole body computed tomography, also showed no findings suggesting other causes for the elevated fever.
The blood examination on admission showed increases in coagulofibrinolytic activity (thrombin-antithrombin complex [TAT] 97.1 μg/L, soluble fibrin [SF] 13.6 μg/mL, plasmin-α2-plasmin inhibitor complex [PIC] 15.3 μg/mL, fibrin/fibrinogen degradation products [FDP] 14.3 μg/mL; panels c and d) without bleeding tendency. Total plasminogen activator inhibitor-1 (tPAI-1), a bio-substance inhibiting fibrinolysis, did not increase on admission (43 ng/mL, panel d).
About 7 h after admission, gastrointestinal hemorrhage and oozing from catheter puncture sites occurred. The coagulofibrinolytic markers at that time point showed remarkable further increases (TAT 443.5 μg/L, SF 75.6 μg/mL, PIC 44.9 μg/mL, FDP 1014.0 μg/mL; panels c and d) with consumption coagulopathy (platelet [PLT] 4.6 × 104/μL, prothrombin time [PT] 24.5%, fibrinogen [Fbg] 25 mg/dL, α2-plasmin inhibitor [α2PI] 19.5%; panels b and d), eventually complicating with enhanced-fibrinolytic DIC (DIC score: International Society on Thrombosis and Hemostasis [ISTH], 7; Japanese Association for Acute Medicine [JAAM], 8). Diagnosis of the DIC phenotype was made in accordance with Asakura’s criteria []. At this time, tPAI-1 elevation was still relatively mild compared with the coagulofibrinolytic activation (160 ng/mL; panel d). This DIC was complicated by reductions in anticoagulatory factors (AT 45.7%, protein C [PC] 29.3%; panel c). We administered 1000 mg of tranexamic acid and transfused fresh frozen plasma (FFP) with concentrated platelets (upper portion of the Fig. ). Thereafter, the bleeding tendency gradually improved, and the activated coagulofibrinolysis peaked. Still, the consumption coagulopathy was sustained, so continued blood transfusion was needed. Also, liver damage reflected by AST and ALT increases was worsening (panel a).
On day 3, the reductions in anticoagulants (AT 63.0%, PC 42.4%; panel c) continued with sustained hypercoagulation (TAT 54.1 μg/L, SF 70.7 μg/mL; panel c), which could possibly have prolonged the consumption coagulopathy (PLT 7.7 × 104/μL, PT 24.0%; panel b). tPAI-1 gradually increased to the peak level of 720 ng/mL (panel d) with decreasing fibrinolytic activity on the same day (PIC 8.8 μg/mL, FDP 373.4 μg/mL; panel d). Thus, these alterations indicated a change to a suppressed-fibrinolytic type of DIC (DIC score: ISTH, 6; JAAM, 8). Therefore, we administered rh-TM-α (130 U/kg/day) for the purpose of anticoagulation from day 3 (upper portion of Fig. ). On day 4, SF still increased beyond the highest measurable level of 80 μg/mL (panel c), reflecting a continuation of the hypercoagulatory state. That change was followed by an abrupt AT decrease to 49.7% (panel c). We therefore added ATIII concentrate at an initial loading of 1500 U for 3 h followed by a continuous infusion of 1500 U/day for 3 days (upper portion of Fig. ). This combined anticoagulation therapy improved not only the hypercoagulation but also the consumption coagulopathy, resulting in the resolution of DIC (DIC score: ISTH, 0; JAAM, 1). In the amelioration of hepatic dysfunction showing as decreases in highly elevated AST and ALT, there was a particularly dramatic recovery in PT values (panels a and b). After these catastrophic episodes, the patient eventually regained consciousness and was transferred to another hospital for further rehabilitation.
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pmc-6332935-1
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A 34-year-old male, right-hand-dominant professional musician presented with a 48-hour history of severe right shoulder pain of sudden onset following a new weights regime. Initially feeling tight, the right shoulder pain was progressive, interrupted sleep, and was refractory to analgesics. Endone was prescribed at initial presentation to the emergency department 24 hours earlier, following a provisional diagnosis of muscle strain. The patient reported no urinary symptoms and had no significant previous medical history, apart from intermittent recreational cocaine use. On examination, global right shoulder weakness and pain on left lateral cervical flexion was apparent, suggesting a possible compartment syndrome.
MRI () revealed extensive intramuscular signal change suggesting oedema, denervation, and/or tissue damage, with the supraspinatus being the only muscle affected. The severity of the symptoms warranted emergency decompression, at which time a fasciotomy was performed, poorly contracting muscle was noted, and biopsies were taken.
Laboratory investigations revealed normal renal function and normal electrolyte concentrations. All aspects of the full blood examination were within normal limits. Inflammatory markers were normal, with a C-reactive protein of 2 mg/L (normal 0–10) and erythrocyte sedimentation rate of 4 mm/hr (normal < 15). Creatine kinase (CK) was the only abnormal finding, with a peak level of 17,223 U/L (normal 0–240) at presentation and a level of 13,148 U/L five hours later (immediately prior to fasciotomy).
Emergency right supraspinatus compartment fasciotomy was performed and necrotic tissue debrided. Muscle biopsy results demonstrated skeletal muscle fibre rhabdomyolysis with intervening oedema. Scattered clusters of degranulating perivascular eosinophils were also noted, in the absence of other inflammatory infiltrates.
Postsurgical management involved renal “flushing” with high-flow intravenous supplementation over 72 hours in a high-dependency step-down unit. Renal function monitoring via regular testing was instituted until the CK level dropped below 5000 U/L.
Secondary referral was made to a hyperbaric unit for consideration of hyperbaric oxygen therapy (HBOT). The patient completed seven treatments of HBOT over a five-day period, with three treatments within 24 hours post fasciotomy. The patient was discharged with no pain, normal renal function, and a decreasing CK level.
One month later, the patient had a full active range of motion of the right shoulder in the absence of painful symptoms. MRI review at 6 months post fasciotomy () revealed a largely normal right supraspinatus and rotator cuff, with complete resolution of changes seen on previous MRI.
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pmc-6332946-1
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A 14-year-old boy, who was initially examined for continuous coughing, was referred to our hospital owing to an anterior mediastinal mass identified on chest X-ray (). Systematic examination revealed a 20 × 10 cm sized mass at the right anterior mediastinum that involved the right pulmonary vein and elevated levels of alpha fetoprotein (AFP), a tumor marker, at 3825 ng/ml. Needle aspiration was performed, but only necrotic tissue could be collected. We did not analyze the karyotype since the symptoms suggesting the Klinefelter syndrome were not observed. Therefore, a clinical diagnosis of malignant teratoma was made, and three courses of cisplatin-based chemotherapy were administered because AFP levels continuously increased. After chemotherapy, AFP levels decreased, although the size of the tumor did not change, as evident in a computed tomography (CT) scan. Next, tumorectomy and total right lung extraction were performed. The pathological diagnosis of the extracted tumor was malignant teratoma with areas of yolk sac tumor (). No cancer cells were found at the edges of the area where the tumor was removed. Two courses of cisplatin-based postoperative chemotherapy were administered until AFP levels were normal.
After 3 months of follow-up, the patient experienced pain in his right hip joint while AFP was still normal. The 99mTc-methylene diphosphonate bone scan showed increased tracer uptake at the left forehead and right hip joint (). Head and pelvic MRI also revealed signs of metastasis at the left forehead and right hip joint. Abdominal CT showed a metastatic region in the liver. Bone biopsy was performed at the left forehead. The pathological diagnosis was metastatic malignant melanoma originating from an immature teratoma of mediastinum (). Large heteromorphic cells with melanin were found in the original mediastinal malignant teratoma by retrospective re-examination. This suggested that a section of the malignant melanoma in the original malignant teratoma, which was composed of various components, metastasized. Because of the very fast disease progression, after consultation with the family, aggressive treatment was discontinued, and palliative therapy was provided. He died 15 months after diagnosis of the original malignant teratoma.
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pmc-6332952-1
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A 31-year-old Japanese male patient visited our clinic to seek an expert opinion from a thyroidologist. His medical history includes atopic dermatitis and atrial fibrillation, for which he had received cardiac catheter ablation when he was 21 and 25 years old. Although his elevated serum levels of thyroid hormones were apparent at the age of 27, the precise cause had not been identified. The patient was 168 cm tall and weighed 64.8 kg (body mass index was 23.0 kg/m2; the ideal body weight for his height is 62.1 kg). His blood pressure was 137/79 mmHg and pulse rate was 115/min, which were regular. His laboratory data showed elevated serum levels of free T4 and free T3 and a normal level of TSH. Autoantibodies for thyroglobulin and TSH receptor were negative. Ultrasonography revealed diffuse goiter (28 ml in volume), which shows homogeneous isoechogenicity. In routine blood tests, serum levels of lipid, protein, and electrolytes were within normal ranges ().
Because his 33-month-old son also showed elevated serum levels of free T4 and free T3 and a normal level of TSH (), we suspected that they had RTH; therefore, we examined sequences of their THRB genes. Both the index patient and his son presented with the same heterozygous germline mutation in the THRB gene: the 1244th guanine was changed to cytosine (). This point mutation results in the substitution of the 320th wild-type amino acid residue arginine to proline. We could not further examine other family members, because the parents of the index patient had died and his brother and sister could not be contacted.
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pmc-6332954-1
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A 28-year-old transgender man who had been receiving masculinizing hormone therapy presented with a self-palpated left breast mass. Past medical history included gender incongruence for which the patient had been receiving weekly testosterone injection therapy for one year prior to presentation. Gynecological history was unremarkable and menses had stopped approximately one month into gender-affirming therapy. Home medications included intramuscular testosterone enanthate 100 mg weekly, multivitamin, and vitamin D supplement. He had never smoked and denied alcohol or illicit drug use. Family history included mother with hypertension, father with diabetes mellitus, paternal great grandmother with breast cancer, maternal great grandmother with ovarian cancer, maternal grandmother with lung cancer, and maternal grandfather with gastric cancer.
On physical exam, the patient was a well-appearing male with moderate growth of facial hair. Cardiac, pulmonary, abdominal, neurologic, and musculoskeletal exam were all unremarkable. Breast exam revealed a palpable left upper breast lump without skin dimpling or changes in pigmentation. His lab values included total testosterone ranging over the year from 544 to 970 ng/dL (reference range for men: 270-1,734), hemoglobin and hematocrit of 15.1 g/dL (reference range for men: 12.5-16.3) and 44.2% (reference range for men: 36.7-47.0), and normal hepatic function panel.
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pmc-6332957-1
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A 51-year-old female patient came to our clinic with postnasal drainage and intermittent nasal obstruction. Oropharynx examination was normal. There were no features on anterior rhinoscopic examination. On nasopharyngeal endoscopic examination, there was an approximately 1 × 1 cm mass with a smooth surface on the posterior wall of the nasopharynx (). There were no other abnormal features on ENT examination. The nasopharyngeal mass was completely removed with the pedicle under local anesthesia. Pathologic evaluation of the specimen was reported as “pleomorphic adenoma showing chondroid metaplasia” (). Complementary surgery was offered, but the patient did not accept additional intervention. Follow-up with endoscopic examination was performed every 3 months. No recurrence was seen during postoperative 1-year endoscopic follow-up (). No additional masses were found in any head or neck region during the period of follow-up.
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pmc-6332958-1
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A 16-year-old Samoan male with a history of RHD, diagnosed in 2013, subsequently developed SLE in 2018. His initial presentation of RHD included mild aortic insufficiency, arthritis to his fifth metatarsal, positive streptozyme test, anti-DNase B 789 U/ml (normal < 170), ANA < 40, negative rheumatoid factor, and sedimentation rate up to 93 mm/hr. Two days after admission, he had a C-reactive protein 75.9 mg/L (normal < 1). Once his rheumatic fever resolved, he was placed on monthly parenteral benzathine penicillin G prophylaxis (BPG) for which he had incomplete compliance. He remained asymptomatic until he developed SLE five years later.
In January 2018, he developed fever, oral ulcers, pancreatitis, elevated ANA titers, elevated anti-Sm, elevated dsDNA, pancytopenia, and proteinuria. He initially presented after having a fever, coryza, and cough with a sore and hoarse throat. He then developed cold sores on his lips and roof of his mouth. After several days, the cough, runny nose, and fever resolved, but his sore throat persisted with subsequent lip swelling and redness accompanied with painful ulcers on lips and palate. Throughout this period, his solid food intake decreased and he reported a 30-pound weight loss.
He was evaluated in the outpatient setting after developing diffuse abdominal pain without fever, nausea, vomiting, or jaundice. The pain gradually became more constant and localized to the midepigastric and right upper quadrant of his abdomen with a noted blood pressure (BP) of 60/40, but no interventions were reported by his mother. He returned and saw his primary care physician who noted a BP of 84/52. Thus, he was transported to the hospital by ambulance, given a fluid bolus, and admitted for hypotension for potential sepsis and further workup.
His only previous significant medical history, aside from RHD, was stage 1 hypertension resolved at his last cardiology follow-up. Reviewing his outpatient records revealed sporadic BPG administration.
A general physical exam was significant for a fever of 38.3°C, ulcers with erythema on the hard palate, left lower, and upper lip, and oropharynx with petechial spots. Additionally, there was a blanching scaly rash noted to his helices and postauricular areas of ears with extension to the adjacent scalp on the left side. Although his overall abdomen was soft without organomegaly, he possessed tenderness to palpation of his upper quadrants. The lymphadenopathy of his superior left posterior cervical chain was unusual with a small 1-2 centimeter lymph node tender to palpation as well as a small, mobile, nontender lymph node of his left axilla. Further physical exam was otherwise normal.
Initial laboratory findings upon admission were significant for pancreatitis with a lipase of 3,140 U/L (normal < 58), transaminitis (AST 367 U/L and ALT 166 U/L) with elevated PTT, and pancytopenia with mild normocytic anemia, leukopenia, and thrombocytopenia. Bone marrow biopsy was normal after an elevated ferritin level of 2,159 mg/ml (reference range 36–311 ng/mL) was found. Multiple triglyceride and fibrinogen levels were found to be within the normal range which made hemophagocytosis less likely. Urinalysis results revealed proteinuria and trace leukocyte esterase. Initial infectious workup was unremarkable with negative antibodies toward viruses known to cause hepatitis. However, initial imaging on the ultrasound showed mild bilateral kidney enlargement but was otherwise unremarkable.
He was started on piperacillin-tazobactam for a four-day course due to progressive pancytopenia. His serum returned positive for salmonella, typhi, and paratyphi antibodies, so he was started on daily ceftriaxone until gastrointestinal PCR returned negative for salmonella. Rheumatologic workup was as follows: ANA of 1,280, anti-dsDNA of 20,480 (normal < 10), and anti-Sm antibodies elevated at >8. He completed four days of pulse steroids before initiation of steroid taper regimen. Nephrology followed him for lupus nephritis with proteinuria and an initial random protein-creatinine ratio at 610. Despite initiation of steroids, proteinuria persisted. For his pancreatitis, he was first placed on a clear diet, which he did not tolerate, and the diet was changed to nothing by mouth. He was started on partial parenteral nutrition and eventually total parenteral nutrition until he could tolerate diet. Finally, he received his monthly BPG prior to discharge.
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pmc-6332963-1
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A 14-year-old girl was hospitalized in pediatric ICU for abdominal pain, respiratory distress, and progressive alteration of her consciousness. This patient with no medical history or family history of autoimmune disease has been suffering from chronic arthralgia for five years. She was first admitted to the pediatric ward before being transferred five days later to pediatric ICU for clinical exacerbation.
Upon admission, she opened her eyes spontaneously, executed orders but had illogical speech. She was normotensive, tachycardiac at 105 bpm, and tachypneic at 35 cpm, and her peripheral oxygen saturation was 92% at room air. Cardiothoracic auscultation had revealed muted heart sounds and bilateral pleural effusion syndrome. The abdominal examination had found epigastric tenderness and ascites of moderate quantity. In addition, generalized edematous syndromes associated with cutaneous signs were noted (malar erythema, alopecia, and pulpitis of the fingers and toes).
The biological assessment showed a normochromic normocytic anemia at 9.9 g/dl, leukocytosis at 16900 elements/mm3, and thrombocytopenia at 62000/mm3, as well as an impairment of renal function, with urea at 1, 06 g/l and creatinine at 61 mg/l. Her natremia was collapsed (106 mmol/l), and her calcemia and albumin too.
The diagnosis of pancreatitis was based on the measurement of lipasemia at 810 IU/L, with an edematous pancreas on abdominal ultrasonography and intrapancreatic necrosis on abdominal CT (stage C of Balthazar) (). Radiological and ultrasonographic investigations confirmed the presence of pleural and pericardial effusion (Figures and ).
In front of the multisystemic symptoms and following the criteria of the American College of Rheumatology (ACR), an immunological assessment was carried out and the diagnosis of SLE was retained with the existence of nonerosive arthritis, pleurisy and pericarditis, neurological involvement (seizures) renal involvement, hematologic abnormalities as well as immunological disorders confirmed by the decreased complement factors C3 and C4, and the positivity of anti-RNP antibodies, anti-Sm antibodies, anti-SSA as well as anti-SSB; however, antiphospholipid antibodies were negative.
The plan of management started by the correction of metabolic disorders and renal function, and the initiation of an immunosuppressive therapy was based on steroids and cyclophosphamides as a bolus. She died 20 days after her hospitalization by a severe lupus flare with multiorgan failure.
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pmc-6332963-2
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A 14-year-old girl, with no particular history, admitted to the Pediatric ward for prolonged fever associated with polyarthralgia (nondeforming, immovable, and additive) that had been progressing since 6 months with altered general state. His symptoms got worst 15 days before his hospitalization by having headache, behavioral disorders like agitation, and severe epigastralgia with vomiting.
On admission: clinical examination found a confused patient, feverish at 38.5°C, normotensive, tachycardic at 125 bpm, and tachypneic at 36 cpm. Also noted the existence of skin rash on the face, mouth ulcers bleeding on contact, pain in both passive and active mobility in large joints, no inflammatory signs, and general abdominal tenderness. The rest of the somatic examination including the neurological examination was ordinary. Biologically, normochromic normocytic anemia was observed at 7.2 g/dl without signs of haemolysis, thrombocytopenia at 86 000/μl and lymphopenia at 1200/μl, SV at 50 mm at the first hour, and CRP at 69 mg/l, and proteinuria 24 to 16 mg/kg/24 h and normal renal function.
The diagnosis of pancreatitis was strongly suspected and confirmed by hyperlipasemia at 610 IU/L and a swollen form of the pancreas on abdominal CT scan. Cerebral MRI was also mandatory in front of persistent headache and found signal abnormality of subtentorial white matter of the left frontoparietal and right occipital that could be part of neurolupus.
The diagnosis of SLE was retained in front of the multisystemic symptoms and meeting the criteria of the American College of Rheumatology (ACR). The antinuclear antibodies, anti-Sm, and native anti-DNAs were positive associated with C3 hypocomplementemia.
The child was treated with bolus of Solumedrol and cyclophosphamide beside his symptomatic treatment without improvement and then died after one month of hospitalization by a septic shock.
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pmc-6332970-1
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On April 2011, a 62-year-old male patient presented recurrent wheezes and he was diagnosed with bronchial asthma. He was treated with high dose of inhaled corticosteroids, long acting β2 agonist, theophylline, leukotriene receptor antagonist, and anti-IgE monoclonal antibody. However, he often suffered from asthma attacks. One year later, laboratory data revealed hypereosinophilia (blood eosinophil count was 1584 per μL) and serum concentration of myeloperoxidase anti-neutrophil antibody (MPO-ANCA) was elevated at the level of 102 U per mL. For treatment of asthma symptom, he was treated with oral prednisone 30 mg per day from June 2012. We observed an improvement of the asthma control with a rapid decrease of serum concentration of MPO-ANCA at the level of 15.9 U per mL on October 2012. The prednisolone was tapered, and he was on 10 mg per day of prednisolone from May 2013. On August 2013, the patient presented the discomfort of bilateral eyelids and papillary swelling of upper eyelids was observed (Figures and ). The computed tomography (CT) image showed bilateral lacrimal gland swellings and hypertrophy of soft tissue in left pterygopalatine fossa (Figures and ). The serum level of IgE, MPO-ANCA, and IgG4 (ratio of IgG4 to IgG) was 237 IU per mL, 21.4 U per mL, and 119 mg per dL (10.5%). Peripheral blood eosinophil count was elevated at the number of 847 per mm6. A resection of right eyelid was performed. Histology showed a dense lymphoplasmacytic infiltration with lymphoid follicle formation. In immunostaining for IgG and IgG4 plasma cell, the ratio of IgG4 to IgG was 50% (). His serum IgG4 level was 119 mg per dL. After cryothermy coagulations were performed for both eyelid swellings, he had no relapse. No other organ manifestations were found in systemic computed CT for evaluating the progression of IgG4-RD except orbital findings. On May 2014, he felt a pain and revealed livedo reticularis of both legs. Blood eosinophil counts was increased (2260 per μL). A skin biopsy was performed and histology showed perivascular eosinophilic infiltration and deposition of multinucleated giant cells and degenerated eosinophils. The symptom of both legs was caused to the peripheral nerve involvement by mononeuritis multiplex. He was diagnosed as EGPA and treated with steroid pulse therapy. After treatment, the symptom was improved, and blood eosinophil count was decreased to 330 per μL. In this case, serum IgG and IgG4 levels were measured from the first visit (). The serum level of IgG4 and the ratio of IgG4 to IgG were generally increased by the disease course of EGPA. He was followed by oral prednisolone at the dose of 40 mg per day and tapered gradually. Two months later, he was started on intravenous cyclophosphamide therapy for tree times. Additionally, high-dose intravenous immunoglobulin was administered for a residual peripheral neuropathy. He subsequently received oral prednisolone at the dose between 15 to 20 mg per day as maintenance therapy. He was doing well as of January 2018.
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pmc-6332972-1
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This is a case of a 42-year-old male with no significant past medical history. In Feb 2015, he presented with increasing constipation that was later associated with rectal bleeding. In April, there were generalized bone pains involving the chest wall, dorsal spine, and pelvis. PR examination showed a mass almost occluding the lumen located 4 cm from the anal verge.
His baseline blood count results are as follows: white blood cells 11.6K/ml, neutrophils 8.4K/ml, hemoglobin (Hb) 12.6 g/dl, MCV 85 fl, MCH 30 pg, and platelets 202K/ml. His renal and liver function tests were within normal ranges. His baseline carcinoembryonic antigen was 309 ng/dl.
Proctocolonoscopy showed a mass 4 cm from the anal canal extending proximally for 10 cm. When biopsied, histopathologic examination result confirmed a poorly differentiated adenocarcinoma with focal signet ring morphology arranged in sheets and cords with minimal acinar formation.
Pelvic MRI showed a rectal mass with circumferential thickening and stranding extending to the pelvic side wall () with multiple large left iliac and mesorectal lymph nodes reaching a size of 2.8 cm. Multiple foci of T2 hyperintensity and enhancement were detected involving the lumbar and sacral spine, both iliac bones, and proximal femura. Computerized tomography of chest abdomen and pelvis showed a rectal mass (9 × 5.6 × 5 cm), left iliac lymph node (1.3 cm), a right upper lung nodule (0.3 cm), and no liver metastases. Bone scan confirmed the widespread active osseous lesions involving the spine, ribs, and pelvic bones (). SPECT-CT suggested diffuse bone infiltration ().
Between June 1 and 14, he received palliative radiotherapy to the pelvis in a dose of 30 grays over 10 fractions with improvement of the rectal bleeding and was scheduled to start palliative chemotherapy, but the patient became pale and developed progressive and prolonged drop in his hemoglobin and platelet levels (Figures and ). He received multiple units of packed red blood cell transfusions with no improvements in the hematologic parameters. Bone marrow biopsy confirmed the diagnosis of malignant bone marrow infiltration by signet ring cells positive for Ck20 and negative for Ck7 with markedly reduced hematopoietic cells.
The patient had the height of 159 cm, weight of 69 kg, and surface area of 1.75. On July 29th, he started zoledronic acid (4 mg IV) and capecitabine (1500 mg orally twice daily ×14 days) (XELOX protocol) as his condition was not fit to receive FOLFORINOX. He required occasional packed RBC and platelet transfusions during the first few days of capecitabine. Gradually, he started to show clinical improvement in the pains and rectal bleeding as well as in the hematological parameters. At the due time of cycle two on 19/8/2015, his Hb was 8.2 g/dl, platelet was 85K/ml, WBC was 6.2K/ml, and neutrophils were 3.4K/ml. Oxaliplatin in half its usual dose (i.e., 106 mg instead of 212 mg) was added to capecitabine. Zoledronic acid was also given. Anti-EGFR therapy was not added as RAS testing was not yet reported. Bevacizumab was not considered due to thrombocytopenia and the increased risk of bleeding.
At the due time of next cycle on 10/9/2015, his HB was 10.5 g/dl, platelets were 109K/ml, WBC was 6.2K/ml, and neutrophils were 4.1K/ml. At that time, he had oral mucositis grade 2 with dysphagia. Supportive treatment was given, and treatment was hold. On 21/9/2015, his Hb was 10.6 g/dl, platelet was 159K/ml, WBC was 9K/ml, and neutrophils were 7.6K/ml. He showed some improvements of the mucositis and dysphagia. The third cycle was given exactly as the second one (i.e., 50% dose reduction of oxaliplatin in addition to capecitabine and zoledronic acid).
On 29/9/2015, he presented to the Emergency Department with complained of diplopia and nasal regurgitation. His vitals were stable. He had left divergent squint. CT brain showed prominent bilateral hypodense collection more to the left with some linear opacities and diffuse cortical effacement (). MRI brain showed diffuse meningeal thickening and enhancement with evidence of sphenoidal and ethmoidal mucosal thickening (). His carcinoembryonic antigen tripled to 1049 ng/ml. Radiation oncologists did not encourage the start RT for the fear of an infectious process. CSF was not tapped. Empirical antimicrobials were started including antivirals (acyclovir 500 mg IV q 8 hours ×14 days and oseltamivir 75 mg orally twice daily for 8 days) and antibiotics (ceftriaxone 2000 mg every 12 hours for 15 days, levofloxacin 750 mg intravenously every 24 hours ×5 days, vancomycin 1250 mg intravenously every 12 hours ×7 days). All microbiological tests were negative including aerobic and anaerobic blood cultures, sputum acid fast bacilli, H1N1 and MERS coronavirus screening, Aspergillus galactomannan antigen (0.08), serum (s) blastomyces antibody (ab), Brucella abortus and melitensis tests, s. cocci CF and ID, Coxiella burnetii, cryptococcal antigen (ag), serum histoplasma ab, and Syphilis TP. Patient did not show signs of improvements. Later, high-resolution CT chest showed two right lung nodules and the largest is 0.5 cm in diameter. CT abdomen and pelvis showed progression of rectal lesion and newly developed innumerable small hypodense liver lesions of 0.7 cm diameter. The patient ran a grave course and expired on 17/10/2015.
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pmc-6332973-1
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An 11-year-old girl was referred to our hospital. She had been suffering from recurrent right ankle swelling since she was 7 years old. She had no pain in her right ankle, and it showed no limitation of movement. She routinely underwent puncture and drainage of the joint when it swelled up. One month before admission, she had an intermittent high fever with joint swelling in her bilateral knees and right ankle. Magnetic resonance imaging revealed a small amount of fluid collection in the joint space with no evidence of synovitis (). Although she started aspirin, the intermittent fever continued. On admission, she showed joint swelling of the right ankle but no skin rash. No eye involvement was detected upon examination by an ophthalmologist. Blood examination revealed a normal white blood cell count of 9,000/μL (normal: 3,800–10,100/μL) and elevated C-reactive protein level of 15.65 mg/dL (normal: less than 0.2 mg/dL). The serum immunoglobulin G level was also elevated to 2,569 mg/dL (normal: 870–1,700 mg/dL). Antinuclear antibody was borderline. Autoantibodies, including anti-dsDNA and anti-cyclic citrullinated peptide, were negative. Rheumatoid factor was negative. Blood chemistry was unremarkable. Urine tests were normal. Radiographic examination showed no hilar lymphadenopathy and no bone destructive changes in her right ankle despite a history of recurrent swelling. There was no family history of autoimmune diseases, including rheumatoid arthritis. These results led us to diagnose her with sJIA. Bolus methylprednisolone (1 g/day for 3 days), followed by prednisolone (1 mg/kg/day), ibuprofen (30 mg/kg/day), and methotrexate (15 mg/m2/week), was started, and her fever subsided. We attempted to reduce the dosage of prednisolone several times; however, she began to experience swelling of several joints, including the right ankle, along with a high fever. Her sJIA seemed to be corticosteroid-dependent at that time. When she was 16 years old, we discontinued methotrexate to avoid its adverse effects on the lungs. Twelve months after its cessation, she complained of “foggy” vision. Ophthalmologic examination revealed bilateral panuveitis. The findings included mutton-fat keratic precipitates and trabecular nodules in the anterior ocular segment. In addition, chorioretinal atrophy mimicking laser photocoagulation scars, retinal periphlebitis, and snowball-like vitreous opacity was observed in the posterior ocular segment. The most common form of uveitis seen in association with JIA is anterior uveitis []. As the granulomatous lesions spread to both her eyes, she was suspected to have sarcoidosis. However, no hilar lymphadenopathy was observed on repeated chest radiography. The serum concentration of angiotensin-converting enzyme was 9.2 U/L (normal: 8.3–21.4 U/L) and remained within the normal range. We then suspected that she had EOS(SBS). The blood sample was sent to check for a mutation of the NOD2 gene. A missense mutation at p.(R587C) in a central nucleotide-binding and oligomerization domain, also known as a NACHT domain, of the gene was identified. Although we could not perform genetic analyses on her family members, as they had never presented with lesions of the skin, joints, or eyes, the mutation of p.(R587C) that she carried was considered to be a de novo NOD2 mutation. The patient was finally diagnosed with a sporadic case of Blau syndrome. Methotrexate was restarted, and the dosage of prednisolone was increased soon after her panuveitis was diagnosed; however, because the prognosis of eye lesions in EOS(SBS)/Blau syndrome is reportedly poor, she was additionally treated with infliximab (4 mg/kg). Infliximab was extremely effective, and her visual acuity recovered, although partial adhesion of the iris remained. Subsequently, the dosage of prednisolone was successfully reduced to 4 mg/day, and she has remained stable without a uveitis flare. A schematic representation of her disease course is shown in .
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pmc-6332978-1
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A 67-year-old man with a significant smoking history presented with a 4.5 cm enhancing left upper pole renal mass detected on CT scan and treated by radical nephrectomy (). Three years later, he presented with a cough and shortness of breath. A chest CT showed an obstructive central mass associated with distal atelectasis/consolidation and moderate right pleural effusion. There was bilateral extensive mediastinal and hilar lymphadenopathy, and irregular inter-/intra-lobular septal thickening predominantly involving the right middle and lower lobe suggesting lymphangitic carcinomatosis (). CT of the upper abdomen at the same time showed no new mass at left renal bed or in the right kidney.
Gross examination revealed a gray-white, circumscribed, encapsulated, focally necrotic mass measuring 4.8 cm in largest dimension in the superior pole of the kidney. The tumor focally invaded perinephric tissues but was completely resected. Microscopically, the majority (95%) of the tumor showed the morphology of a Type 2 PRCC with a prominent papillary architecture. The cells were polygonal in shape and exhibited abundant eosinophilic granular cytoplasm and Fuhrman grade 3 nuclei (, left). IHC showed positive staining for CK7, Racemase, and CD10 (). Additional IHC performed in retrospect, showing that a small focus of PRCC component was strongly positive for synaptophysin () but negative for CD56 and chromogranin, indicating a neuroendocrine differentiation. A minor component (5%) of the tumor showed features of MTSCC (, right). This component exhibited elongated tubules and cords of uniform, bland, low cuboidal cells with eosinophilic, focally vacuolated cytoplasm and transitions to anastomosing spindle cells. The stroma was myxoid with abundant extracellular mucin. IHC showed this component of the tumor was focally positive for CK7 and Racemase, but negative for CD10, synaptophysin, CD56, and chromogranin. Fluorescent in situ hybridization (FISH) analysis demonstrated no evidence of aneuploidy for chromosome 7 in either tumor area. The nuclei in the PRCC component had three centromere 17 signals consistent with trisomy 17, those in the MTSCC component were negative for trisomy 17 ().
The recent transbronchial biopsy showed an infiltrative tumour with nested and trabecular architecture but no papillary component. Nests and cords of small polygonal cells were surrounded by delicate fibrovascular stroma. The cells had a moderate amount of vacuolated, granular eosinophilic cytoplasm () suggestive of an endocrine neoplasm. Mitoses were quite numerous. The nuclei were medium-sized, many showing a central nucleolus, but lacked the “salt-and-pepper” chromatin pattern typically seen in neuroendocrine tumors. However, IHC showed an endocrine profile, diffusely positive for synaptophysin () and focally for chromogranin and CD56. The tumor was also strongly positive for pan-cytokeratin, renal cell carcinoma antigen (RCC), PAX8 (), and CD10 (), but was negative for TTF1, which supported the diagnosis of a metastatic PRCC with neuroendocrine differentiation. The Ki-67 immunostain showed a proliferative index of 25%.
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pmc-6332980-1
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A 66-year-old woman presented at the emergency department of our hospital complaining of sudden onset dizziness and fatigue over the past thirty minutes. Before her arrival, she was at home relaxing and not engaged in any physical activity. Her past medical history was significant for arterial hypertension, diabetes mellitus, and hypothyroidism. Her medications were tab. vildagliptin/metformin (50/1000) (mg) BID, tab. amlodipine/valsartan (5/160) (mg) once daily, and tab. levothyroxine 75 mcg once daily. She had a known and asymptomatic Left Bundle Branch Block (LBBB) and a normal echocardiogram on previous regular visits at her cardiologist (). Upon palpation of peripheral pulse, a measurement of 32 beats per minute (bpm) was obtained. Her blood pressure was 115/60 millimeters of mercury and her oxygen saturation 96% on room air. A 12-Lead ECG was recorded and revealed a complete heart block (CHB) with sparse QRS complexes with a Right Bundle Branch Block (RBBB) morphology (). Before the insertion of a temporary transvenous pacemaker, atropine 2 mg was administered intravenously as a bolus infusion. Shortly after, sinus acceleration was observed and conversion of the complete AV block into 2nd degree AV block with 2 : 1 conduction (note that the blocked P waves are more visible in Lead V1) (). Eventually, her heart rhythm was restored to SR with LBBB, at approximately 72 bpm (). Laboratory studies revealed a normal complete blood count, normal electrolytes, cardiac enzymes, and Thyroid Stimulating Hormone (TSH). The patient was immediately transferred to the cardiac intensive care unit, hemodynamically stable and under continuous ECG monitoring. Her stay at our clinic remained uneventful until her transfer to a specialized tertiary center for a permanent pacemaker implantation (). Apart from the implantation, a coronary angiography was performed which revealed normal coronary arteries without atherosclerotic lesions ().
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pmc-6332983-1
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A 38-year-old nulliparous woman was pregnant with MCDA twins. The pregnancy was conceived after in vitro fertilization. Ultrasonography (US) was performed at 20 weeks (normal malformation scan) and again at 23 weeks showing intrauterine growth restriction of both twins. A normal fetal echocardiography was performed at week 28. At 31 weeks, the fetal US still showed intrauterine growth restriction (twin A 26% and twin B 31%). It also revealed mild dilation of the gut in twin A.
The mother developed severe preeclampsia around week 28 and was hospitalized. Antenatal corticosteroids were administered to aid fetal lung maturation. Her preeclampsia progressed, and the mother developed hemolysis, elevated liver enzymes, and low platelet count (HELLP syndrome). Caesarean section was performed at a gestational age of 32 weeks and 0 days because of HELLP syndrome. Two live female neonates were delivered. Both twins were small for gestational age with a birth weight of 1200 g for twin A (−3, 25 standard deviation (SD)) [] and 1290 g for twin B (−2, 85 SD). Twin A showed a broad band of a transparent membrane-like material firmly attached to her lower abdomen (). She had normal movement and circulation of the lower limbs. Her twin sister showed no malformations and is well after follow-up at 7 months of chronological age.
Twin A developed respiratory distress syndrome. Initially, she was stable and treated with nasal continuous positive airway pressure. She subsequently developed apneic episodes and increased oxygen requirement and was treated with surfactant. She was mechanically ventilated and developed persistent pulmonary hypertension, complicated by bilateral pneumothorax, which was treated with bilateral needle aspiration and unilateral chest tube. Umbilical lines were inserted, and an isotonic crystalloid solution was given as volume expander. The blood glucose level was normal. Antibiotics were administered. Despite the maximal treatment, she developed hypoxia and increasing metabolic acidosis. Because of twin A's high ventilatory requirement, both infants were transferred by the neonatal transport service to a tertiary neonatal intensive care unit for further stabilization and treatment.
At the tertiary neonatal intensive care unit, treatment of twin A with nitric oxide was initiated, a second chest tube was inserted, and inotropic treatment combined with systemic steroids was established, all without significant effects. She developed increasing lactic acidosis despite bilateral chest tubes, inotropic support, nitric oxide, and volume therapy. With the parents' agreement, intensive support was withdrawn, and twin A died on her second day of life. The family granted permission for postmortem examination.
On autopsy, twin A showed signs of intrauterine growth restriction with body dimensions appropriate for 30–32 weeks of gestation. A broad band of a transparent membrane was found firmly attached in a circumferential severe stricture on the lower trunk at the level of the back, hips, and lower abdomen (Figures and ). No other strictures or amniotic bands were seen. There was pneumothorax, the lungs were hypoplastic, and their weights corresponded to 24 weeks of gestation. Microscopy of the lung tissue showed severe hyaline membrane disease. The attached band-like material was identified as the dividing membrane of the MCDA pregnancy, on one side displaying amnion nodosum as a sign of oligohydramnios (). The placenta was not available for examination.
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pmc-6332995-1
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A 47-year-old woman underwent LAGB in 2005 with a BMI of 41 and after significant weight loss the band was fully deflated in 2010, however kept in situ. The patient developed severe gastroesophageal reflux disease (GERD) symptoms a year later and was treated with omeprazole 20mg twice daily. The patient refused upper gastrointestinal endoscopy until she developed dysphagia and signs of infection of the port site over the past few months. On endoscopy she was diagnosed with a migrated band which has eroded into her stomach in more than 50% of its circumference (). This finding was confirmed on a computed tomography (CT) scan excluding any other pathology.
Endoscopic removal of the band was decided and performed using a conventional JAG wire (Boston Scientific Corporation) and the mechanical emergency lithotripter handle (Olympus).
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pmc-6332995-2
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A 56-year-old woman who had LAGB six years earlier was investigated for epigastric discomfort. On EGD it was demonstrated that the gastric band has eroded into the gastric lumen (). The band was fully deflated and the patient was scheduled for therapeutic endoscopy and gastric band removal. Using the technique described above the eroding band was extracted successfully. The patient had an uneventful course and was discharged on the first postoperative day. Her symptoms resolved as well; however, the patient regained weight and was referred to a bariatric surgeon for further consultation.
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pmc-6332995-3
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A 21-year-old female was admitted to the hospital with postprandial vomiting and epigastric pain. She has undergone LAGB three years ago with a BMI of 43 and at the time she has lost 30% of her excess body weight. On admission the band was fully deflated; however, her symptoms persisted. On abdominal X-ray the band's phi ankle was 0' and proximally migrated. EGD was performed and showed gastric band erosion in about 30% of its waist (). On the following day the patient underwent a successful endoscopic removal of the eroding gastric band, using the above described technique.
After a normal water soluble swallow test on postoperative day 1, her diet was advanced and discharged on the second postoperative day. The water soluble swallow test was performed because the patient complained of epigastric pain and discomfort, without being an absolute requirement for diet build up.
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pmc-6332997-1
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A 20-year-old male collegiate track athlete presented with 8 months of right posterolateral leg pain and paresthesia. The symptoms had begun shortly after starting to use a new pair of orthotics during his season. The symptoms were initially described as a sharp pain, present usually only with activity, rarely symptomatic at rest, and notably worse with going up stairs or from sitting to standing. He was initially treated for shin splints, and after a period of rest, placement in a walking boot, and physical therapy, the symptoms did improve slightly. He continued to have persistent tingling and intermittent shooting pains with long runs, sprints, playing basketball, and with lifting, most notably with squats. Physical exam was remarkable for numbness around the right fibular head with percussion or after exercise.
He was referred to orthopedics where X-rays of the knee were normal (Figures and ). There was concern for a possible lumbar radiculopathy, so imaging of his lumber spine was obtained. He was started on a course of prednisone and was referred to a physical medicine and rehabilitation specialist for further evaluation. There, his symptoms were localized around his fibular head and peroneal nerve, with no spinal involvement. He was sent to neurology for peripheral nerve testing. He underwent EMG and had an ultrasound of his peroneal nerve, which did show bilateral nerve enlargement, but with normal conduction. He was then referred to a primary care sports medicine specialist that performs compartment syndrome testing. These tests were mildly positive, but his symptoms were felt to be somewhat inconsistent with that diagnosis. The athlete was then sent to another primary care sports medicine physician that specializes in musculoskeletal ultrasound so that a dynamic evaluation of the posterior knee could be performed.
The dynamic ultrasound evaluation was performed using a GE S8 ultrasound machine with a 6-15 MHz transducer (General Electric, Chicago, Illinois, USA). The dynamic ultrasound showed a moderate-sized fabella in the posterior knee adjacent to the peroneal nerve, with a dynamic compression of the nerve on knee flexion and nerve enlargement distally (see and ultrasound videos 1 and 2). The patient underwent peroneal nerve hydrodissection with corticosteroid injection 8cc of 1% lidocaine and 1 mg dexamethasone under ultrasound guidance. The patient returned to rehabilitation and physical therapy in the school's training room, with improvement in symptoms with plans to return to compete in the spring season. A month later, he started training for his spring season and the symptoms returned. A repeat hydrodissection with a corticosteroid injection was tried again to get him through the season, but it failed.
Preoperatively, we were able to palpate and mark the fabella with the patient (). A tourniquet is used throughout the case to limit bleeding. We used a longitudinal incision directly over the fabella. The common peroneal nerve was identified, decompressed, and retracted laterally. The lateral gastrocnemius tendon was incised longitudinally directly over the fabella (). The fabella itself was then removed as a single unit and measured 13 mm in length by 10 mm in width (). There was an articulation of the fragment with the posterior femur, which was exposed. Great care is taken to protect the nerve while the exposure is closed in layers.
Postoperatively, the patient reported that the numbness had resolved from before surgery. He was kept touchdown weight bearing to allow the gastrocnemius tendon to heal. Physical therapy was started immediately after surgery to work on a knee range of motion. At 6 weeks, he was allowed to progress with a return to sport protocol and he returned symptom-free to track activities at 12 weeks. He remains asymptomatic over 2 years since his surgery.
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pmc-6333006-1
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An 82-year-old female was transferred to the emergency department of our hospital with general malaise followed by septic shock-like symptoms. She had been undergoing renal dialysis over the past 2 years. The patient's test was negative for HIV, HCV, and human T-cell leukemia virus 1, and she did not have any type of cancer, was not undergoing chemo- or corticosteroid therapy, and showed no evidence of autoimmune diseases, but she had a history of HBV infection. She was not a drinker. Prior to admission, she had been in another hospital where she was diagnosed with end-stage hepatic failure (Child-Pugh stage C) and treated for anorexia, hypotension, and hypoglycemia. On admission, the patient complained of malaise, followed by a state of Japan Coma Scale I-3 (Glasgow Coma Scale E3V1M5), with severe hypotension (blood pressure unmeasurable). She was afebrile, severely anemic, and icteric, with liver dysfunction and hemorrhagic tendency but without peritoneal signs, such as localized guarding. Laboratory tests indicated high serum C-reactive protein levels, increased direct bilirubin, and extremely high hyaluronic acid and type IV collagen levels, in association with reduced total protein and albumin levels, as well as reduced prothrombin time and markedly low choline esterase activity. All these were compatible with decompensated liver dysfunction. For the complement system, reduced 50% hemolytic complement (CH50) and C3 levels, with normal C4 levels, were noted (). Abdominal computed tomography revealed pleural effusion and small ascites (). Pleural effusion was aspirated; cell counts therein were determined to be 272/μL, and the culture was negative. Abdominal paracentesis and spinal tap were not performed. During her admission, she was cared for by intubation in the intensive care unit because of persistent hypotension and low blood oxygen saturation (SpO2). Blood culture on admission yielded Cryptococcus () on day 4 of admission when she died. Also, positive serum cryptococcal antigen (titer; 1:128) was confirmed postmortem. Consequently, the patient was diagnosed as having invasive cryptococcal infection linked to HBV-related hepatic cirrhosis and died prior to receiving antifungal agents. Later, the presence of C. neoformans was confirmed.
Survey of Reports of Japanese Cases. We used the Igaku Chuo Zassi (ICHUSHI; the Japan Medical Abstract Society, www.jamas.or.jp) to survey data for patients in Japan who suffered from invasive cryptococcal infection related to liver cirrhosis and/or failure during the years 1990–2016. The keywords used were “liver cirrhosis”, “peritonitis”, “meningitis”, and “systemic cryptococcal infection”. Cases concurring with cancer were excluded. We identified 11 cases, mostly short abstracts and not full papers [–] (). Including the case described in the current report, a total 12 cases were analyzed. Of these cases, nine patients were over 50 years old and the male/female ratio was 9/3. The following causes of liver cirrhosis were reported: HBV (n=2), HCV (n=2), alcohol (n=2), primary biliary cirrhosis (n=2), and unknown (n=4). Treatment was known for eleven cases except for one. Seven cases received antifungal agents, of which four were alive and three had died at the time of reporting. All four cases not given antifungal agents died. Although detailed information was limited in the retrieved reports, it appears that the outcome may have been better in certain cases who were diagnosed early and had the antifungal treatment been provided in a timely manner.
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pmc-6333014-1
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A 50-year-old male patient presented with a 2-year history of left-sided typical HFS. Painless irregular clonic contraction of the facial muscles began initially in the orbicularis oculi muscle of the lower lid. It gradually spread to other muscles innervated by the facial nerve on the left side of the face, including platysma. The paroxysm was induced or aggravated by emotional tension, stress, and voluntary and reflexive movements of the face. He had significant difficulty in his work and social life despite 2 times of botulinum toxin injection. Medical treatment with carbamazepine (up to 600 mg) and baclofen (30 mg) was not effective. He was referred for surgical treatment. His medical history was unremarkable. His physical and neurologic examinations were normal, including hearing. No tinnitus or discernible noise heard in his left ear was found. Only typical nature of clonic hemifacial spasm was evident. Abnormal synkinesis between the orbicularis oculi and orbicularis oris muscles was found by the electromyographic examination of the blink reflex. Despite typical HFS, there was no discernible vascular structure in the REZ of left facial nerve (). However, a meatal loop of AICA abutting to the cisternal portion of the facial nerve was found.
Under the impression of HFS caused by neurovascular compression of distal facial nerve, standard microsurgical procedure was performed as described previously [, , ]. In addition to intraoperative monitoring of BAEPs, LSR, which is an abnormal muscle response demonstrated by EMG recordings from mimic muscles that are innervated by a different branch of the facial nerve [], was also monitored throughout the operation. The entire course of the facial nerve and offending arteries were exposed under microscopic vision. Upon exposure of the REZ of the facial nerve, there was no offending vessel in the REZ as expected (). The distal, cisternal segment of the facial nerve was found to be bent by a meatal loop of the AICA (). A small piece of Teflon felt was interposed between the facial nerve and the meatal loop of the AICA with extreme care not to stretch the internal auditory artery and the distal facial nerve (). After interposition of Teflon felt, LSR immediately disappeared and BEAP was stable also (). The closure of the dura and wound was performed in routine manner. The HFS resolved completely following the surgery. The postoperative course was uneventful with no signs of facial weakness or hearing impairment by pure-tone audiometry. No recurrence of HFS or neurologic sequelae was evident at a 12-month follow-up.
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pmc-6333014-2
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A 58-year-old female patient presented with a 1-year history of right-sided typical HFS. The nature of spasm was similar to case 1 and identified as typical HFS. It progressively worsened and did not respond to medical treatment and botulinum toxin was effective only for three months. She wanted to have a definitive treatment and transferred to our department. Her neurologic examination was normal except painless irregular clonic contraction of the facial muscles, consistent with typical HFS. In the MRI, although the PICA passed around the REZ of the facial nerve, it did not compress the REZ (). The postmeatal segment of AICA coursed between the vestibulocochlear and facial nerves. Under suspicion of HFS by distal neurovascular compression, MVD was performed with intraoperative monitoring of LSR and BAEP. As expected, the PICA had no association with the REZ or attached segment of the facial nerve (). The postmeatal segment of AICA was interposed between the vestibulocochlear and facial nerves and adhered to the distal cisternal segment of the facial nerve. It was carefully separated from the facial nerve and 2 thin leaflets of Teflon were interposed between the postmeatal AICA and the facial nerve (). Disappearance of LSR was confirmed within 2 minutes (). After awakening from anesthesia, the spasm disappeared. Postoperative course was uneventful with any facial weakness or hearing impairment by pure-tone audiometry. She discharged at the fifth postoperative day and no recurrence was found at 6 months postoperatively.
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pmc-6333016-1
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A 61-year-old man with severe soft tissue infection in one leg was admitted to an emergency hospital. Ceftriaxone, clindamycin, and prophylactic enoxaparin were added to his previous medications (enalapril and simvastatin). Four days later the leg was deemed beyond salvage. Preoperative laboratory findings were unremarkable except for thrombocytopenia (Coulter® LH 750 Analyzer, Beckman Coulter Life Sciences). Platelet counts had dropped from 320x109/L to 8x109/L in EDTA. No platelet increment was observed after three full-dose platelet transfusions over the next two days. Accompanying flags and blood smears were not mentioned in the medical chart. A consultant anesthesiologist suspected PTCP and a blood sample in EDTA, sodium citrate, and heparin was processed at room temperature. Further workup was unnecessary. Platelet counts were 13x109/L in EDTA but 355x109/L in sodium citrate and 310x109/L in heparin. Thrombocytopenia and platelet aggregates were flagged only in the EDTA aliquot. Abnormal platelet histogram and white blood cell (WBC) also suggested in vitro platelet clumping (Figures and ). Amputation under spinal anesthesia was carried out uneventfully.
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pmc-6333054-1
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A three-day-old full-term newborn girl presented to the emergency room with fever, decreased feeding, and absence of urine output of one day duration. She was exclusively breastfed and was passing stools of uncertain consistency in the first 2 days. On physical examination, she was dehydrated, sick looking, febrile (38.8○C, axillary), tachypnic (respiratory rate: 70 breaths/min), and with signs of respiratory distress. Her oxygen saturation was 76% at room air with prolonged capillary refill time (>4 seconds). Pregnancy, labor, and delivery were uncomplicated. She was born to first cousins parents and has an older healthy sibling, and there is no significant relevant family history.
She was intubated, given normal saline bolus (20 cc/kg) and was started on dopamine and dobutamine infusions. She was admitted to the NICU of Jordan University Hospital and started on ampicillin and gentamicin after obtaining bacterial cultures. The laboratory tests showed metabolic acidosis (pH:6.8 and HCO3 of 9.4 meq/L), hypernatremia (189 meq/L), hyperkalemia (11.1 meq/L), renal impairment (Creatinine of 2.9 mg/dL and BUN of 292), and prolonged INR (2.25). She had a normal chest X-ray.
Despite rehydration, she was still anuric and the creatinine and potassium increased which mandated a double volume blood exchange transfusion. Echocardiography revealed normal cardiac structure and renal ultrasound showed normal-sized kidneys without hydronephrosis and an empty bladder. Her condition improved quickly, and the metabolic acidosis resolved with fluid therapy. She was extubated and came off inotropes within 24 hours. Her electrolytes normalized, but the creatinine rose to 7.3 mg/dL on hospital day # 4. She was started on peritoneal dialysis on hospital day # 5, and feeding resumed on hospital day # 7 with expressed breast milk. Blood culture came back negative. Despite continuous dialysis and anuric state, the serum sodium started to rise again. Breast milk sodium was normal.
Based on the clinical picture and the recurrence of hypernatremia with feeding, with query history of diarrhea, Glucose-Galactose Malabsorption (GGM) was suspected. Stool was acidic with a pH of <6. There was no reported diarrhea until hospital day 10 when the baby feeds were increased. The nursing staff and residents thought she was passing urine when in fact it was watery stools. She was started on special formula (galactomine ®- fructose based) and her stools and sodium normalized. The baby continued on peritoneal dialysis and developed hypertension. Her illness was further complicated by intracranial hemorrhage, hydrocephalus, and seizures. She died at the age of 4.5 months.
Genomic DNA was extracted from peripheral blood from the infant and both parents. The entire coding regions of SLC5A1 (NM_000343.3) and corresponding exon/intron boundaries(±8 bp) were sequenced by next generation sequencing (NGS) on MiSeq (Illumina, San Diego, CA, USA). Alignment and variant calling were performed using NextGENe software (SoftGenetics, State College, PA, USA). Sanger sequencing was used to provide data for bases with insufficient coverage and for validation of variants. The classification and reporting of the variants was performed according to the international recommendation.
The infant was found to be homozygous for a variant (c.1006C>T; p.R336C; rs768831308) in SLC5A1, and both parents were found to be heterozygous for the same variant. This variant is not reported in the disease-related literature but is described in the dbSNP without minor allele frequency (MAF) and in the ExAC database with extremely low frequency (0.00082%) and is absent in the Greater Middle East (GME) database, as well as over 3000 ethnically matched control chromosomes from existing sequences. It changes a highly conserved amino acid and is predicted to be probably pathogenic by the protein predictive software PolyPhen and SIFT.
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pmc-6333059-1
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A 77-year-old woman presented in the emergency department complaining of enlarging painful mass in the right groin for the past 2 days. She denied any nausea, emesis, diarrhea, or constipation. The patient was afebrile upon presentation, and the rest of her vital signs were normal. Physical examination revealed a bulging tender mass in the right groin consistent with femoral hernia, which was non-reducible. Laboratories were remarkable for elevated WBC count (13 500/μL) and CRP (34 mg/L). A CT of the abdomen-pelvis showed the top of the inflamed appendix within the femoral sac and a small fluid collection in the femoral canal area (Figure ). A diagnosis of De Garengeot's hernia was made, and the patient was transferred to the operating room. After administration of preoperative antibiotics (cefuroxime 1500 mg, metronidazole 500 mg), a small incision was made (approximately 4 cm) beneath the inguinal ligament under general anesthesia (Lockwood's infrainguinal approach). The femoral sac was carefully dissected to the level of the femoral orifice. The sac was opened, and the inflamed appendix was visualized. The cecum was mobile and easily identified and appendectomy was performed. The hernia sac was reduced and the boundaries of the defect carefully defined. No signs of abscess or perforation were noted, and the patient's wall abdominal condition made a suture repair technique inefficient. Thus, a polypropylene mesh plug was fixed into the defect (with interrupted nonabsorbable prolene sutures) to the inguinal ligament, the Cooper ligament, and the aponeurosis of the transversus abdominis. Subcutaneous tissue and skin were closed after good hemostasis. No postoperative complications were noted. The patient was discharged 7 days after the operation, and complete wound closure was noted during follow up. The pathologic examination of the surgical specimen confirmed the diagnosis of mucosal inflammation of the vermiform appendix.
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pmc-6333062-1
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A 33-year-old, obese female patient presented with a 3-day history of swelling of the right side of the neck, right chest and upper limb pain and shortness of breath when talking. This was 3 days after a laparoscopic cholecystectomy for calculous cholecystitis. She also had a lower segment cesarean section 6 weeks prior to the cholecystectomy. She did not have a history of heavy manual activity involving the upper limbs. There was no history of trauma. She had no history of smoking, chronic illnesses, or autoimmune conditions. There was no positive personal or family history of malignancy. The patient had received Clexane 40 mg subcutaneously once daily, post operatively to prevent deep vein thrombosis after laparoscopic cholecystectomy.
On examination, the patient was in pain with a swelling on the right side of the neck and right upper limb (Figure ). The vitals were Temp 36.2°C, blood pressure 157/101 mm Hg, heart rate 72/minute, respiratory rate 36 breadths per minute, and saturation of 100% on free air. Her weight was 95 kg with a body mass index (BMI) of 40 kg/m2. She had tenderness of the right side of the chest, right upper limb, and right side of the neck. The chest had normal vesicular breath sounds. There were no breast lumps. There was no limb swelling. The abdomen was normal, and the rest of the examination was unremarkable. Investigations done showed the following; full blood count: hemoglobin 9.5 g/dL white cell count 12.5 cells/mm3, platelet 390 × 103/μL, mean corpuscular volume 77. The urea and electrolytes, clotting profile, serum cholesterol and triglycerides, and glycosylated hemoglobin were normal. Antiphospholipid antibodies were negative. Protein C and protein S were not done as they could not be done at the local laboratory. The computed tomography (CT) scan of the chest showed (a) extensive soft tissue swelling of the right neck extending to the mediastinum, (b) thrombosis of the brachiocephalic vein extending into the Superior vena cava (Figures and ), and (c) bilateral pulmonary artery branches filling defects consistent with embolism (Figure ). An ultrasound of the abdomen and Doppler scan of both lower limbs were normal.
The patient was admitted in high dependent unit (HDU), put on oxygen per nasal prongs at 4 L/min, Clexane (Emcure®, Pune, India) 80 mg 12 hourly, Amlodipine 5 mg once daily, analgesia, strict bed rest, and propped up. Because of the recent surgery, there was concern on the use of antithrombolytics. The swelling subsided, and the pain decreased. The patient was started on physiotherapy. The patient did well and was discharged after 2 weeks on Clexane 40 mg subcutaneously daily and analgesia. On review 2 weeks’ post discharge, the patient had fully recovered. A repeat CT scan showed no presence of any thrombi in the right brachiocephalic vein as well as the absence of pulmonary embolism. Unfortunately, we could not monitor the antifactor Xa assay for anticoagulation therapy. This test is not routinely done at our center.
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pmc-6333069-1
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A 15-month-old boy was admitted to the Emergency Room with a history of 3 days of fever, cough, and suspected pneumonia. In his past history, only a slight decline in appetite was reported. Physical examination revealed diminished air entry and crackles at the right hemithorax. A chest X-ray showed a large intrathoracic radiopaque thickening occupying the right hemithorax (Figure ). Laboratory tests revealed: leukocyte count 16.36 × 109/L (of which 74% lymphocytes), normal C-reactive protein, and normal biochemical profile. He was admitted to our pediatric clinic and treated with ceftriaxone (80 mg/kg/d) and clarithromycin (15 mg/kg/d). A chest X-ray after 5 days of treatment revealed an improvement in the thickening of the right lung, but persistence of mediastinal enlargement. A chest computerized tomography scan (CT scan) was done and showed enlargement of the anterior mediastinum, occupied by solid inhomogeneous predominantly hypodense hypovascularized tissue, with a total dimension of 9.6 × 6 × 10 cm, with left paramedian development with minimal imprint on the jugulo-subclavian confluence and on the homolateral anonymous vein. This was associated with pleural effusion of a maximum thickness of about 7 mm. The thymus was not well recognized (Figure ).
Abdominal and neck ultrasounds were normal. Echocardiography showed minimum pericardial effusion but no heart chamber compression by the mediastinal mass. Oncologic markers (α-fetoprotein, vanillylmandelic acid, human chorionic gonadotropin, urinary vanillylmandelic acid, homovanillic acid and 5-hydroxic-indoleacetic acid) were negative. Subsequent complete blood count revealed an increase in lymphocytosis (81.9% of 21.78 × 109/L leukocytes).
A percutaneous biopsy was carried out to exclude malignancy. Fragment analysis was compatible with thymic tissue, making the diagnosis of true thymic hyperplasia (TTH).
Because of clinical improvement and radiological stability of the size of the mass, the patient was discharged. A steroidal therapy (prednisone 2.5 mg/kg/d) was prescribed for 40 days. Radiological investigations showed initially minimal change in tumor size, but subsequently a rapid increase in dimension that reached 10.8 × 11 × 9 cm, with compression of the heart chamber and right main bronchus with atelectasis. The child underwent surgical excision of the mass via right thoracotomy. The mass weighed 492 g and measured 15 × 11.5 × 5 cm. Microscopic finding showed preservation of the normal thymic architecture. Immunohistochemical analysis revealed TTH associated with extramedullary myelopoiesis. Postoperative recovery was uneventful, and the patient was discharged from hospital five days after surgery. Laboratory results (complete blood count and inflammatory indices) at 1 month were normal. A chest X-ray 3 months after surgery was normal. At 10 months of follow-up, the child was asymptomatic and showed regular growth; no recurrence was detected.
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pmc-6333070-1
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A 54-year old moderately obese (BMI = 30.9 kg/m2) man with a past medical history of tonsillectomy due to recurrent tonsillitis was referred to our clinic by an external ENT physician for resection of a suspected parapharyngeal lipoma. The patient had suffered from recent onset of an increasing foreign body feeling associated to daytime sleepiness and impaired concentration at workplace for over a year. The patient's general practitioner had suspected a sleep disorder and sent him to a pneumologist a year previous to our referral. The sleep exam revealed an apnea-hypopnea index (AHI) of 42 per hour compatible with moderate to severe OSAS. Without any further examination, the patient received a continued positive airway pressure (CPAP) for the next 12 months. Despite initial improvement of the sleep architecture and day symptoms, the patient's complaints re-occurred and foreign body feeling increased.
Due to this symptom recurrence further investigations were needed, and he was sent to an external ENT colleague who discovered a bulging of the left tonsillar fossa and lateral pharyngeal wall. Examination of the oropharynx revealed a firm submucosal mass of the parapharyngeal space extending from the lower one-third of the nasopharynx to the lower aspect of the tonsillar fossa (Figure ). Magnetic resonance imaging (MRI) showed a 6 × 4 × 2 cm homogenous parapharyngeal mass which appeared hyperintense on T1-weighted sequences and hypo-intense on T2-weighted sequences (Figure A,B). The mass extended beyond the midline to the right side and caused stenosis of the upper airway with no neck lymphadenopathies. The radiological pictures highly suggested the presence of a large lipoma of the parapharynx. A complete surgical excision of the mass was performed (Figure C) using a transoral approach. Histolopathologic examination confirmed the suspected diagnosis of a lipoma. The post-operative course was uneventful, and the patient was discharged home on the second post-operative day. One month following surgery, the patient reported complete relief of all day symptoms. Follow-up sleep exam 4 months postoperatively showed a decrease of AH index from initially 42 to 11 per hour (without CPAP) and a decrease of the Epworth Sleepiness Scale from 6 to 3 out of 24 points.
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pmc-6333073-1
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A 65-year-old man developed dyspnea on effort and general fatigue in March 2018, followed 3 days later by a fever of 38ºC and appetite loss. He had not complained of cough, sputum, or myalgia. Beginning 4 days after the initial symptoms, the patient found it difficult to walk, and he was transferred to our hospital.
The patient had smoked 10 cigarettes per day from age 18 to 63 years and was diagnosed as having the chronic obstructive pulmonary disease. He also had a history of resection of lung cancer 2 years before presenting to our hospital. He drinks one glass of beer per day and has never been exposed to dust nor vaccinated for influenza or S pneumoniae infections.
On admission, his Glasgow Coma Scale score was E3V4M4 and his vital signs were body temperature 35.1ºC, heart rate 137 bpm, blood pressure 70/30 mmHg, respiratory rate 34/min, and SpO2 78% (under O2 inhalation at 10 L/min). Auscultation did not reveal any murmurs, but the air sounds in his right lung fields were attenuated. Blood gas analysis under O2 inhalation at 10 L/min showed a pH of 7.36, the partial pressure of arterial oxygen of 69.3 Torr, partial pressure of arterial carbon dioxide of 32.8 Torr, bicarbonate of 18.2 mmol/L, base excess of –6.3 mmol/L, and lactate of 5.75 mmol/L. Peripheral blood tests showed a white blood cell count of 1200/mm3 (neutrophils 86.1%, lymphocytes 10.4%, eosinophils 0%, basophils 0.9%, monocytes 2.6%), hemoglobin of 11.8 g/dL, and platelets of 12.8 × 104/mm3. Serum biochemistry and serology tests were as follows: aspartate aminotransferase 55 IU/L, alanine aminotransferase 19 IU/L, lactate dehydrogenase 213 IU/L, total protein 6.3 g/dL, albumin 2.5 g/dL, total bilirubin 4.0 mg/dL, blood urea nitrogen 27 mg/dL, creatinine 1.11 mg/dL, sodium 137 mmol/L, potassium 3.8 mmol/L, chloride 102 mmol/L, C-reactive protein 29.7 mg/dL, procalcitonin 45.91 ng/mL, β-d-glucan <11 pg/mL, and soluble interleukin-2 receptor 2820 U/mL. Rapid urinary antigen test for S pneumoniae was positive, but rapid influenza diagnostic test, urinary antigen test for Legionella sp, and Mycoplasma antigen test using nasopharyngeal swabs were all negative. Sputum and blood culture yielded S pneumoniae. Chest X-ray showed consolidation in the right lung field (Figure A).
Our patient's CURB-65 score was 5 and we diagnosed him as having severe community-acquired pneumonia and started invasive pulmonary ventilation in the ICU. Cefepime, azithromycin, immunoglobulin, and recombinant thrombomodulin were administered. His blood pressure did not improve by fluid replacement rehydration, and noradrenaline and vasopressin were started but failed. Because he was in septic shock, we initiated polymyxin B-immobilized fiber column hemoperfusion, but he developed anuria. Sputum collected on hospital day (HD) 3 yielded S pneumoniae, but other significant pathogens were not isolated, so we changed antibiotics to penicillin G. Platelets were reduced to 6000/mm3, and his serum ferritin value was elevated to 10 758 ng/mL. Bone marrow aspiration test showed an image of hemophagocytosis (Figure B), and we diagnosed him as having HLH/HPS and started corticosteroid therapy. On HD 6, his blood pressure improved, but his serum bilirubin value had increased by 20.3 mg/dL. Abdominal ultrasound test showed neither an ectatic bile duct nor edematous gallbladder. Anemia progressed to a hemoglobin of 6.7 g/dL, and anuria and hyperbilirubinemia indicated TMA. We checked blood smears and found fragmented red blood cells (RBCs) (Figure C). On the basis of a decrease in ADAMTS-13 (a disintegrin-like and metalloproteinase with a thrombospondin type 1 motif, member 13) activity to 0.488 (normal range: 0.78-1.57) and serum haptoglobin of <10 mg/dL, we diagnosed him as having TMA. The patient had not developed diarrhea from admission, and plasma exchange was then started. The number of fragmented RBCs (per 1000 RBCs counted) in peripheral blood smears showed zero from HDs 1 and 2, but 30 cells on HD 3, 50 cells on HD 15, 94 cells on HD 17, 42 cells on HD 24, and 24 cells on HD 29. Urine output improved to 400 mL/day on HD 29, and serum bilirubin value recovered to 0.9 mg/dL on HD 39.
The patient had developed ventilator-associated pneumonia on HD 9, and we switched antibiotics from penicillin G to cefepime. His respiratory and circulatory conditions improved, and he was extubated on HD 24. However, the patient underwent a tracheotomy the next day because he could not fully expectorate sputum. From HD 29, the patient suffered from pneumonia due to Pseudomonas aeruginosa. We administered antibiotics according to antibiotic sensitivity testing, but antibiotic-resistant P aeruginosa was repeatedly isolated, and the patient ultimately died from hospital-acquired pneumonia on HD 43. Paired sera on admission and serum obtained on HD 7 showed a significant increase in antibody titers of influenza B virus (from 10 to 40 titers), and we ultimately diagnosed the patient as having mixed viral and bacterial pneumonia due to influenza virus and S pneumoniae.
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pmc-6333077-1
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We report a case of 6-year-old girl who presented to our hospital with nonspecific symptoms of fever, headache, and vomiting. She was ultimately diagnosed with cerebral sinovenous thrombosis (CSVT) and was managed medically with antibiotics, anticoagulation, and acetazolamide. Surgical intervention was also required and included lumbar drainage and mastoidectomy with myringotomy.
A 6-year-old girl presented to the emergency department with 2 days of fever, vomiting, and headache. She was seen at her pediatrician's office on the day prior to presentation and prescribed amoxicillin for right acute otitis media (AOM). She had bilateral myringotomy tube placement 7 months prior to presentation due to chronic ear infections, otherwise she was healthy and up to date on her immunizations. The patient had no known sick contacts. Family history was significant for maternal history of miscarriages, methylene tetrahydrofolate reductase (MTHFR) mutation, and antiphospholipid antibody syndrome. On arrival; temperature was 36.6°C, heart rate was 70 beats/min, blood pressure was 110/60 mm Hg, respiratory rate was 22 breaths/min with oxygen saturation of 99% on room air. Physical examination revealed a sleepy but easily arousable child. Pupils were round, reactive to light, and extra-ocular muscles were intact. No nuchal rigidity was noted. Both tympanic membranes were erythematous and bulging, but there was no erythema or tenderness overlying the mastoid processes and no protrusion of the pinna bilaterally. The remainder of her physical examination was unremarkable. The patient was initially treated with intravenous (IV) fluids for dehydration, IV Ketorolac for pain, and ceftriaxone for AOM prior to admission to the pediatric ward. Over the following day, her headache progressed, and she developed diplopia noted when she began covering one eye to watch television. Ophthalmic examination revealed bilateral papilledema consistent with increased intracranial pressure (ICP). Computed tomography (CT) of the head with IV contrast showed CSVT with right mastoiditis Figure .
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pmc-6333078-1
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A 55 year-old Caucasian male with a background of Crohn's disease previously on immunomodulating therapy with azathioprine and adalimumab, presented with subacute fevers, epistaxis, and lethargy. He was noted to have pancytopenia and hepatomegaly, and splenomegaly (21 cm) on CT scan (Figure ). Physical examination was remarkable for fevers up to 103°F, a diffuse erythematous pruritic rash and splenomegaly without lymphadenopathy. Laboratory revealed a WBC of 1.4 × 103/mm3, hemoglobin 7.8 g/dL, platelet 44 × 103/mm3, LDH 460 units/L (3.4-4.8 units/L), ferritin 936 ng/mL (16-294 ng/mL), triglycerides 244 mg/dL, and soluble interleukin-2 receptor 1898 units/mL (<1100 units/mL) and normal liver function tests. An infectious workup was unremarkable.
A bone marrow aspirate and biopsy revealed T-cell lymphoma, compromising about 5% of the cellularity as well as a moderate number of hemophagocytes (Figure ). There is bone marrow involvement in most patients at diagnosis, and hemophatocytosis is a recognized but infrequent phenomenon that can develop in patients with HSTCL. The aspirate demonstrated a hypercellular marrow and normal erythroid number and maturation. Myeloid elements also demonstrated normal maturation and megakaryocytes were present in normal number. Lymphocytes overall did not appear increased however occasional atypical forms were recognizable, although identification of lymphoma cells was difficult. The bone marrow biopsy core demonstrated increased cellularity of 80%. A hypercellular bone marrow is also a typical finding at diagnosis., Lymphoid aggregates were not identified but were appreciated within sinusoidal spaces. Iron stains demonstrated adequate iron stores (3+/6) without pathologic ringed sideroblasts, and reticulin stain showed no increase in reticulin fibrosis. Immunohistochemistry (IHC) stains demonstrated the following: CD20 was negative in neoplastic cells and positive in sparse background small B-cells. CD3 was positive in neoplastic cells (Figure ), many within marrow sinusoids, with intermediate nuclei, open chromatin, and a variably prominent nucleolus, overall comprising about 5% of the cellularity. The IHC stain was also positive for KP1 (CD68), highlighting the nuclei of engulfed cells within macrophages (Figure ). Immunophenotyping by flow cytometry demonstrated the following phenotype: CD3 positive (dim/moderate; dimmer than background small T-cells), CD2 positive, CD16 positive, and CD56 positive. CD7 was partially positive. CD5, CD4, CD8, and CD57 were all negative. The population comprised about 1% of the cellularity in about 20% of lymphocytes, the remainder predominated by background small T-cells. HSTCL cells are positive for CD2, CD3, and CD7, and are negative for CD1a, CD5, CD10, TdT, and B-cell antigens. Approximately 75% of cases express CD56 and the majority of HSGDTL cases are negative for CD57, CD4, and CD8., , , , Cytogenetics was negative for isochromosome 7q; however, the majority of HSTCL cases have an isochromosome 7q [i(7q)] chromosomal abnormality., The lack of isochromosome 7q raised suspicion for other diagnoses including T-cell large granular lymphocytic (LGL) leukemia and T-prolymphocytic leukemia. In literature the reported frequency for i[7q] is 25%-68%., , The other cytogenetic abnormality that may be found in HSTCL is trisomy 8, reported to have a frequency of 8%-53%., , The role of these chromosomal abnormalities is uncertain. It is thought that i[7q] is a driver chromosomal anomaly and that trisomy 8 is a probable secondary event.
The constellation of fevers, splenomegaly, cytopenias, hyperferritinemia, elevated soluble IL-2, and hemophagocytes bought the diagnosis of HLH. In light of the hepatomegaly, a liver biopsy was pursued which confirmed a diagnosis of HSTCL involvement in the liver (Figure ). The lymphoma cells infiltrated the liver sinusoids (Figure ), which is a typical finding with HSGDTL., IHC stains were positive for CD3 and CD56. They were negative for CD20, CD30, granzyme, TdT, and CD1a. There was aberrant loss of CD5. In situ hybridization for Epstein-Bar virus (EBER) was negative. EBV is commonly negative in HSTCL.
Systemic therapy with chemotherapy was initiated; however, he was refractory to CHOEP (cyclophosphamide, doxorubicin, vincristine, etoposide, and prednisone), ICE (ifosfamide, carboplatin, etoposide), romidepsin, cladribine, and alemtuzumab. Interestingly his cytopenias responded to steroids. He was eventually readmitted with recurrent fevers and worsening hepatosplenomegaly and he died due to progressive disease.
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pmc-6333079-1
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A 71-year-old Caucasian female with no known past medical history complained of insidious onset low back pain that became constant and severe, associated with generalized weakness and diffuse pain over the course of few days. The patient sought medical care at other facilities on two occasions and each time was prescribed symptomatic treatment including narcotic pain medications and a course of oral steroids. She had no fever or chills. Her family noted that she was increasingly confused therefore; they brought her to this hospital after 2 weeks of complaints. On examination, she was afebrile with tachycardia. She was lethargic but arousable. No meningismus was present. A pan-systolic murmur was present as well as a red painless raised lesion on the pad of her left fourth finger (Figure ). She had midline lower back tenderness with preserved power and sensation in her lower limbs.
Laboratory investigation showed leukocytosis with a left shift, elevated C-reactive protein, and erythrocyte sedimentation rate as well as acute kidney injury. A lumbar puncture revealed 100 white blood cells (100% monocytes) with elevated protein and low glucose. Both her blood and spinal fluid grew methicillin-sensitive Staphylococcus aureus in <12 hours. She was treated with nafcillin. Computed tomography (CT) of the spine revealed a fluid collection in the retroperitoneum concerning for psoas abscess (Figure ). Echocardiography revealed a mitral valve vegetation with severe regurgitation. Numerous foci compatible with acute embolic infarcts were evident on brain magnetic resonance imaging (MRI) while lumbar spine MRI showed vertebral osteomyelitis and discitis with an epidural abscess displacing the spinal cord.
The patient's condition deteriorated rapidly as she developed severe septic shock with multi-organ failure. She was not a candidate for spinal or cardiac surgery given her severity of illness. Unfortunately, she died just shy of a month after her initial complaints began.
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pmc-6333081-1
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A 32-year-old white woman, who was undergoing transgender body modifications and no previous medical history, presented to our emergency department (ED) with a chief complaint of right forearm pain, associated with redness and blistering. The patient was a tattoo fanatic who underwent solar branding on her right forearm approximately 2 weeks before presentation. The patient first noticed the blistering of the branded area 3 days after her body modification. Over the next few days, the entire branded area became very warm, swollen, painful to touch, and developed cellulitis with weeping blisters. Given her dire situation, the patient finally sought medical care in the local urgent care center. The patient was diagnosed with a superficial infection of her right forearm full thickness burn and prescribed oral clindamycin. The patient continued to develop painful blisters for the next week and did not notice any improvements in her cellulitis despite the antibiotic treatment, prompting her to come to our ED for a second medical opinion.
During her physical examination, the patient was noted to have painful blisters, redness, and swelling of the right forearm and hand (Figure ). She did have a full range of motion of the hand; however, there was mild pain noted on the flexion of the hand. There were no signs of sepsis, and her vital signs and her laboratory panel which included white blood cell count were all within normal limits. The rest of the physical examination was also unremarkable. The patient was admitted to the Burn Surgery Service for intravenous (IV) antibiotics and possible operative interventions.
The patient was started on IV clindamycin 600 mg every 8 hours, and once adequate pain control was achieved, a bedside debridement was performed in the Burn Unit. The following day, the patient was taken to the operating room for tangential excision of her wound and split-thickness skin autograft (STSG) placement onto her right forearm. The left anterolateral thigh was chosen as the donor site. The grafted site was dressed with xeroform, followed by a layer of bacitracin ointment and then wrapped with Kerlex and Coban dressings. A right forearm elbow splint was fitted and placed by the occupational therapy service for further graft protection. Postoperatively, the patient was transferred back to the floors without complications, and antibiotics were stopped. The right forearm dressing was taken down on postoperative day 4 to evaluate the STSG. The entire graft was viable and taken. Subsequently, the graft staples were removed on postoperative day 5.
The patient recovered exceptionally well and was discharged home a few days later. Two weeks later, the patient returned to the burn clinic for a follow-up appointment. The skin graft and the donor site healed remarkably well (Figure ). The patient reported no pain and had a full range of motion of the hand and wrist. The patient was discharged from the burn service and advised to use over-the-counter moisturizer or lotion as needed.
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pmc-6333083-1
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A 34-year-old woman was admitted to an outside hospital with severe epigastric abdominal pain. She had no report of cholelithiasis, history of alcohol use, elevated triglycerides, or use of drugs. She was diagnosed with acute pancreatitis on the basis of typical pain with a lipase of 1628 U/L (8-78 U/L). She was treated conservatively and subsequently discharged. Following discharge, her pain never completely resolved. Therefore, MRI of the abdomen and pelvis was performed as an outpatient, which revealed mild heterogeneity and prominence of the pancreatic head with a trace amount of peri-pancreatic fluid. She was readmitted to the hospital two weeks following the initial discharge due to worsening pain. Laboratories at this admission were significant for the following: AST, 597 U/L (8-43 U/L); ALT, 1013 U/L (7-45 U/L); total bilirubin, 5.2 mg/dL (<1.2 mg/dL); alkaline phosphatase, 695 U/L (50-130 U/L); lipase 164 U/L (26-102 U/L). She underwent endoscopic retrograde cholangiopancreatography, which showed a distal common bile duct stricture that was stented. CT of the abdomen and pelvis revealed multiple hypodense lesions in the liver, kidneys, pancreas, and anterior pericardium. She was subsequently transferred to our facility for further evaluation.
At the time of transfer, the patient complained of severe epigastric and right upper quadrant pain as well as intense generalized pruritus. She also complained of drenching sweats and a 12-pound weight loss. Additional laboratory testing revealed an LDH of 486 U/L (122-222 U/L). Ultrasound-guided biopsy of a renal mass showed an abnormal lymphoid infiltrate with abundant necrosis. The infiltrate contained lymphoid cells with large nuclei, irregular nuclear contours, prominent nucleoli, and modest amounts of cytoplasm. There were scattered forms with very large, pleomorphic nuclei (hematoxylin and eosin stain, Figure C). The tumor cells were positive for CD79a, PAX5, CD19, CD22, OCT2, BCL-6, MYC, CD30, and CD45 (CD79a immunoperoxidase stain, Figure D). They were negative for CD20, MUM-1, CD10, and BCL-2. FISH analysis did not show a MYC rearrangement. A final diagnosis of CD20-negative diffuse large B-cell lymphoma was made. She was discharged following adequate control of her pain and pruritus.
Further staging was performed as an outpatient, including F18-FDG PET scan, which showed intense FDG uptake in the anterior mediastinal mass, bilateral renal masses, pancreas, supraclavicular lymph nodes, middle mediastinal lymph nodes, bilateral adrenal glands, anterior left iliac bone, and the T6 vertebral body (Figure A). Analysis of bone marrow and cerebrospinal fluid was negative for lymphoma involvement. She was deemed to have Ann Arbor stage IVB disease with an International Prognostic Index of 3. As such, she was initiated on CHOP [cyclophosphamide (750 mg/m2, intravenous), doxorubicin (50 mg/m2, intravenous), vincristine (1.4 mg/m2, intravenous), and prednisone (100 mg/m2, oral)] with methotrexate (3.5 gm/m2, intravenous) included during odd cycles for CNS prophylaxis. A repeat F18-FDG PET scan after three cycles of CHOP showed marked interval improvement with reduction in size and FDG avidity of all previously demonstrated masses (Figure B).
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pmc-6333084-1
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A female patient had undergone a gastrectomy for gastric cancer when she was 29 years old. Soon after the operation, symptoms developed, including a high-grade fever, back pain, lower abdominal pain, the feeling of residual urine, and left knee joint pain. The symptoms recurred every month for a few days, primarily around the time of menstruation. The patient was examined extensively by computed tomography, esophagogastroduodenoscopy, and colonoscopy, but no abnormal findings were revealed. As the symptoms were also able to be induced by a UTI, with the exception of the knee joint pain, a diagnosis of pyelonephritis was made by a urologist, after a voiding cystography without any abnormal findings. Thereafter, she was treated with antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs) for eight years. She also felt fatigue and experienced appetite loss for a long duration, even during afebrile periods. In recent years, she has tended to stay indoors at all times.
When the patient was 37 years old, she was referred to our hospital for iron deficiency anemia and dysgeusia after the administration of ferric medicine; these conditions were possibly caused by the appetite loss following the periodic fever. On the basis of precise history-taking and laboratory examinations, including elevation of serum amyloid A (SAA), we suspected FMF (Table ).
Colchicine treatment (0.5 mg/d) was initiated, according to the diagnostic criteria for FMF. The symptoms disappeared completely without treatment with antibiotics or NSAIDs. Despite the improvement, Klebsiella pneumoniae (K. pneumoniae) continued to be reproducibly detected at a high titer in consecutive urine cultures before and during menstruation (Table ).
After informed consent was obtained from the patient, DNA sequencing was performed. Recurrent MEFV mutations were not detected in exons 1, 2, 3, or 10 (data not shown).
To further evaluate the deteriorated immune response in the patient, we analyzed SNPs in theTLR2 exon and the promoters of TLR4., The TLR2 exon of the patient showed a G/G allele, corresponding to Arg753Arg, which is a common genotype in the non-UTI control (data not shown). On the other hand, the TLR4 promoter region included six of the eight SNPs that had been found in Swedish patients with ABU (Figure A).
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pmc-6333117-1
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We present a 36-year-old woman with 1-year history of Raynaud's phenomenon, pain, and paresthesia, without clinical signs or symptoms of ischemia or vasculitis. Additionally, she complained of morning pain and stiffness involving interphalangeal and metacarpophalangeal joints, malar rash, subjective hair loss, mouth ulcers, weight loss of 5 kg in the last 3 months, and sicca symptoms. She denied visual disturbances, headache, dizziness, galactorrhea, or amenorrhea at the time of consultation. This clinical picture was associated with PRL levels between 20 and 40 ng/mL (Figure ), despite cabergoline treatment at 0.5 mg twice per week. Interestingly, she presented with familial autoimmunity and one relative with SLE associated with prolactinoma (Figure ).
Hyperprolactinemia was diagnosed in 2002 due to secondary amenorrhea; hence, bromocriptine was started at 1.25 mg per day. No musculoskeletal symptoms were present at the moment of diagnosis. After 2 years with bromocriptine, PRL levels decreased at 72 ng/mL, but at the same time, she developed morning stiffness and arthralgia. Due to symptoms recurrence, she decided to withdraw bromocriptine for 3 years with paradoxical improvement of her musculoskeletal symptoms. In 2007, amenorrhea recurred due to high levels of PRL; therefore, bromocriptine was restarted (Figure ).
After 5 years of treatment, high levels of PRL persisted despite bromocriptine prescription. A magnetic resonance image was performed, disclosing a pituitary microadenoma. Consequently, bromocriptine was changed for cabergoline 0.5 mg twice per week. This treatment showed an evident decrease in PRL concentration. Interestingly, after treatment adjustment, arthralgia, fatigue, and malar rash returned. In 2015, when lower PRL levels were reached, new onset of Raynaud's phenomenon, sicca symptoms, alopecia, and unintentional weight loss were identified (Figure ). At that time, mild leuko-lymphopenia (leukocytes: 4.000/mm3, lymphocytes 1.400/mm3) was observed, and serological tests for infectious diseases (including syphilis, toxoplasmosis, rubella, and HIV) were negative. Renal and hormonal function tests, including thyroid and hypothalamic-pituitary-gonadal axis, were normal.
Blood tests from January 2017 showed mild anemia (11.6 g/dL), peripheral smear with poikilocytosis, ovalocytes, and target cells, and normal renal function. Immunologic tests were positive for ANAs 1:160 (speckled pattern), dsDNA, anti-Sm, anti-SS-A/Ro, anti-SS-B/La, anti-RNP autoantibodies, lupus anticoagulant (LA), and anticardiolipin antibodies (ACA) III IgM and IgG, but negative for rheumatoid factor, anticitrullinated peptide antibodies, antithyroid peroxidase, antithyroglobulin, and β2GP1 antibodies. The minor salivary gland biopsy showed a focus score >1 (Figure A), and the sella turcica nuclear magnetic resonance (STNMR) disclosed pituitary asymmetry (Figure B). She carried HLA-A*01:01:01G/A*24:02:01G, HLA-B*45:01:01G/B*57:03:01G, HLA-C*16:01:01G/C*18:01:01G, HLADRB1*10:01:01G/DRB1*15:03:01G, and HLA-DQB1*05:01:01G/DQB1*06:02:01G.
A diagnosis of PolyA characterized by the presence of SLE and Sjögren's syndrome (SS) was made. Treatment with hydroxychloroquine (200 mg/d), deflazacort (6 mg/d), and acetylsalicylic acid (100 mg/d) was started. Cabergoline was continued (0.5 mg twice per week). One year after follow-up, signs and symptoms improved, including malar rash, arthralgia, and Raynaud's phenomenon associated with levels of PRL below 20 ng/mL.
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pmc-6333251-1
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An 11-year-old girl presented with fever, body aches, diarrhea, and persistent vomiting for two days. She was conscious and alert. Her heart rate was 92/min, blood pressure 115/70 mmHg, and temperature 39.5 °C. There was no pallor, icterus, cyanosis, pedal edema, or lymphadenopathy. The cardiovascular, respiratory, neurological, and abdominal examination was unremarkable. Blood work showed hemoglobin 11.4 g/dl, total leucocyte count 10,200 cell/mm, differential leukocyte count (DLC) 41%, lymphocytes 56%, monocytes 2%, and eosinophils 1%. Liver function tests (LFT), urea creatinine, random blood sugar, and urine analysis were within the normal range.
Diagnosis of an acute viral gastroenteritis was made, and she received symptomatic treatment with intravenous acetaminophen and domperidone. On the second day of admission, she was afebrile, and vomiting stopped. However, she developed involuntary spastic arching of the back and spontaneous involuntary movements of the lips and tongue. Neurology consultation was sought, and after a detailed neurological examination, domperidone-induced acute dystonia was proposed as a probable diagnosis. There was no history of head injury or epilepsy. Rest of the physical examination was unremarkable. LFT, urea creatinine, and urinalysis were repeated and yielded normal results. Domperidone was discontinued immediately and promethazine was prescribed. Within 24 hours, her condition improved and abnormal movements disappeared. The patient was discharged, and during the four-week and six-month follow-up visits, no recurrence was observed.
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pmc-6333252-1
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A 34-year-old male with a past medical history of hypertension, presented to the hospital with a chief complaint of diffuse rash, chest tightness, and difficulty breathing. Earlier that morning, he was experiencing stomach pain, nausea, and diarrhea prompting him to take one tablespoon of his wife’s liquid ranitidine in an attempt to alleviate his symptoms. Approximately 15 minutes after ingestion of the liquid ranitidine, he noticed a diffuse body rash, itching, as well as what felt like throat tightening. He went to a local urgent care and was given diphenhydramine 50 mg, prednisone 60 mg, albuterol inhalation, and epinephrine 0.3 mg intramuscularly. Although his breathing improved he was sent to the emergency department for further evaluation. Soon after arriving in the emergency department, he started feeling a recurrence of his chest and throat tightness. Vital signs at the time were within normal limits and he was saturating at 95% on room air. His physical examination was unremarkable. Routine blood work was significant for white blood cell count of 12.07 K/uL. A chest X-ray ordered showed clear lungs, and his electrocardiogram was normal. He recalls a similar incident a few years ago after taking ranitidine, where he developed a diffuse pruritic rash but denied any difficulty breathing or any throat tightness. He was admitted for monitoring of his anaphylaxis to ranitidine and was given 1-liter normal saline bolus, methylprednisolone 40 mg, and diphenhydramine 50 mg intravenously. The patient's breathing remained stable and his rash improved. His leukocytosis was attributed to the steroids and thus not a concern. He was discharged home later that day to follow up with his primary physician. Additionally, and perhaps most importantly, he was strongly cautioned and warned to avoid taking ranitidine in the future.
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pmc-6333256-1
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An 80-year-old female was admitted to the hospital following thunderclap headache. Medical history was relevant for hypertension, hypothyroidism, congestive heart failure, chronic kidney disease, and valvular AF with a prior ischemic stroke. Her current medications included oral warfarin use. Her last known INR was in therapeutic range. The patient was also taking metoprolol, nifedipine, amiodarone, atorvastatin, levothyroxine, and omeprazole.
At admission, general exam showed a slightly increased blood pressure (130/80 mmHg) and irregular tachycardia. Electrocardiogram confirmed AF. Neurological exam was relevant for stupor and left hemiparesis. Urgent noncontrast enhanced computerized tomography (CT) scan revealed the combination of acute supratentorial subdural hematoma and parenchymal hematomas with the formation of several blood fluid levels in right parietal and occipital lobe, with midline shift and compression of the ipsilateral ventricle (Figure ). Clinical and radiographical findings were highly suspicious for warfarin-induced intracranial hemorrhage.
Laboratory test results were relevant for low hemoglobin of 9.2 g/dL (normal: 14-17 g/dL), prolonged prothrombin time (PT) of 44.20 seconds (normal: 9-12 seconds), prolonged INR of 4.5 (recommended range: 2.0-3.0), and glomerular filtration rate of 9 mL/min. Despite the administration of fresh frozen plasma, vitamin K and prothrombin complex concentrate, the patient became comatose and died eight hours after admission in the intensive care unit.
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pmc-6333258-1
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A 27-year-old African American male, with a past medical history of aphthous and genital ulcers, tuberculous meningitis, brainstem encephalitis, and transverse sinus thrombosis, presented with the onset of sudden massive hemoptysis. Computed tomography angiography (CTA) of the chest demonstrated two, separate pulmonary artery aneurysms in the right middle lobe, associated with a surrounding pulmonary artery hemorrhage (Figure ).
The patient also had acute pulmonary embolisms in the bilateral upper lobes of the lungs. Given the patient’s constellation of symptoms, he was diagnosed with Behcet’s disease. After a multidisciplinary discussion with the intensive care unit and thoracic surgery teams, the decision was made for the patient to receive a pulmonary angiogram with the embolization of the aneurysms and the placement of an inferior vena cava (IVC) filter.
After accessing the right common femoral vein using ultrasound guidance, a seven French, 55 cm guiding sheath was placed into the main pulmonary artery under fluoroscopic guidance. Through the sheath, a five French pigtail catheter was advanced into the main pulmonary artery. A subsequent pulmonary angiogram was performed, which was grossly unremarkable. The pigtail catheter was exchanged for a four French glide catheter, which was then advanced into the right main pulmonary artery. An angiogram was then performed, which demonstrated an aneurysm filling supplied by the lateral pulmonary arterial segment of the right middle lobe.
This artery was selectively catheterized with a microcatheter and microwire. A selective angiogram demonstrated two separate saccular aneurysms. The proximal aneurysm measured 13 by 19 mm, with the aneurysmal neck measuring 5 mm; the distal aneurysm measured seven by six millimeters, with the aneurysmal neck measuring 3 mm (Figure ).
Using the “sandwich technique” for aneurysm embolization, both the proximal and distal aneurysms were embolized by placing a total of 11 metallic coils []. Two Terumo® Azur CX coils (Terumo Medical Corporation, Somerset, NJ, US), six Boston Scientific® Interlock-18 coils (Boston Scientific, Marlborough, MA), and three Terumo® Microvention HydroFrame coils (Terumo Medical Corporation, Somerset, NJ, US), were used to embolize from distal to proximal, up to the origin of the vessels. Post-embolization angiography demonstrated complete obliteration of the aneurysms (Figure ).
Finally, a Bard® Denali (C. R. Bard Incorporated, Murray Hill, NJ, US) infra-renal retrievable IVC filter was placed. The procedure was performed uneventfully without complications. The patient was observed in the hospital for four days post-procedurally and for treatment of the underlying Behcet’s disease. The patient was then discharged home in a favorable condition.
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pmc-6333264-1
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A 57-year-old, otherwise healthy male construction worker, presented to the emergency room (ER) after a mechanical fall from tripping and hitting his occiput on a flower pot. This resulted in reported loss of consciousness for around 10 minutes. He complained of confusion, right-sided weakness, double vision and difficulty in speaking, upon recovering from the fall. On exam, the patient was alert, oriented to time, place and person but had dysarthria, ataxia, nystagmus, right-sided weakness and hyperreflexia (with positive Hoffman’s bilaterally, and up-going plantar response on the left side). The family denied any seizure-like activity during this time or in past. His systolic blood pressure (SBP) in the ER ranged from 202 to 220 mmHg. The initial computed tomography (CT) scan was negative for acute intracranial findings. The MRI scan suggested non-enhancing T2/FLAIR hyperintensities involving the brainstem and extending in the cerebellar peduncles bilaterally (Figure ). T2/FLAIR hyperintensities were also noted in periventricular white matter area (Figure ). The MRI of the cervical spine did not show any herniation of the cerebellar tonsils down the foramen magnum. However, it did suggest some degenerative changes in cervical spine at C5-6 level.
The patient was transferred to the neuro-intensive care unit (NICU) for further management of high blood pressure that included carvedilol 12.5 mg three times a day, labetalol (as needed) with a goal of SBP between 140 and 180 mmHg.
The lumbar puncture showed elevated proteins of 80 mg/dl (normal range: 15–60 mg/dl), and normal white blood cell count (WBC) of 4/mcL (microliter), red blood cell count (RBC) of 17/mcL and glucose of 63 mg/dl with an opening pressure of 13 cm water. All extensive workup for infective and neoplastic causes of brainstem white matter changes was negative for cytology, acid-fast bacilli (AFB), cryptococcus, human immunodeficiency virus (HIV), herpes simplex virus (HSV), venereal disease research laboratory test (VDRL), and West Nile Virus. The levels of vitamin B1, B2, B12, D, E were also within normal limits.
Our patient’s past medical history included ulcerative colitis, hemorrhoids, and colonic polyps. His family history was positive for hypertension, diabetes, and cancer. He denied any alcohol use, but admitted to smoking a pack of cigarette daily. He denied any illegal drug use other than occasional use of marijuana.
Despite aggressive attempts at management of blood pressure, it was refractory to labetalol, spironolactone, nifedipine, and hydralazine. This led to further evaluation of secondary causes of hypertension including renal artery ultrasound and aldosterone to renin ratio. The aldosterone to renin ratio was within normal range but the renal artery ultrasound revealed right renal artery stenosis which was further confirmed by magnetic resonance angiogram (MRA) (Figure ).
Right-sided renal artery stenting was performed by interventional radiology (IR). Post-stenting, his blood pressure returned to normal range. At this time his physical exam was significant for dysarthria and hyperreflexia without any right-sided weakness. He was evaluated by physical therapy/occupational therapy (PT/OT) and discharged to a rehabilitation center. Subsequently, on follow-up in the clinic, a repeat examination showed significant resolution of his dysarthria and improvement in pyramidal and cerebellar signs. The MRI of the brain, during this time, showed marked improvement in T2/FLAIR hyperintensities in the brainstem and cerebellar peduncles (Figure ).
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pmc-6333265-1
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A 67-year-old male with a known past medical history of hypertrophic obstructive cardiomyopathy (HCM) presented to the emergency department (ED) complaining of chest pain lasting for one day. He has a known past medical history of hypertension, dyslipidemia, and coronary heart disease with stents in the left anterior descending artery and left circumflex. However, he was not compliant with his metoprolol and was doing a strenuous activity when he started to feel retrosternal left-sided chest pain, which was pressure-like, non-radiating, and four out of 10 in intensity that was aggravated by lying down. On physical exam, the vital signs were within normal limits, his chest was clear to auscultation, and he had normal S1 and S2 with a harsh systolic murmur best heard over the left sternal border.
Laboratory evaluation was significant for troponins of 1.5 ng/mL (normal: < 0.05). EKG revealed T wave inversions from V3 to V5 on admission (Figure ). Upon this hospitalization, he was urgently taken to the cardiac catheterization lab where he was he was found to have non-obstructive coronary artery disease, patent stents, and an intracavitary gradient of 50 mmHg on pullback (Figure ). This was remarkable as he had not had a left ventricular outflow tract (LVOT) gradient in a previous left heart catheterization three years earlier (Figure ). An echocardiogram after the catheterization revealed that he had a normal ejection fraction with severe hypokinesis of the apical wall consistent with Takotsubo cardiomyopathy (Figures -). There was a dynamic obstruction during Valsalva in the outflow tract, with a peak velocity of 613 cm/s and an estimated peak gradient of 150 mmHg (Figures -). The patient was started on metoprolol succinate daily, and his condition markedly improved. One month later, a repeat echocardiogram showed a normal ejection fraction with a resolution of the apical hypokinesis and an exercise-induced left ventricular outflow tract gradient (LVOT) of 80 mm Hg, consistent with hypertrophic cardiomyopathy. This denotes that the TCM had worsened the patient's LVOT obstruction, and upon resolution of it, the patient's hemodynamics returned back to baseline. The patient was asymptomatic and had no complaints.
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pmc-6333267-1
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A 10-year-old aboriginal boy, belonging to a soil-working family, came from Panama with his relatives to collect the coffee harvest, as done every year. In 2010, he was admitted in a Panamanian hospital after a snake bite, with tissue compromise that required a prolonged hospitalization of approximately six months besides multiple skin grafts.
After this hospitalization, he developed a chronic lymphedema in the right leg, with partial function limitation, but did not seek medical attention at any center. In December 2013, they traveled to Costa Rica where he was seen and referred for clinical evaluation to our center, the only pediatric tertiary referral center in the country (part of the Caja Costarricense del Seguro Social: the social security system in Costa Rica). Because of his extensive lesion and lymphedema, he was hospitalized for diagnosis and treatment.
On admission, we document a eutrophic child, without a history of fever, some skin lesions suggestive of scabies, no cardiopulmonary compromise, and no pathological abdomen findings. The patient presented with lymphedema in the right leg and foot, with hypertrophy of the skin, edema and inflammatory changes, without compromising the pulse rate. There was evidence of multiple verrucous confluent lesions, a few with dark coloration, on the ankle (Figure ).
On admission, his early laboratory report showed no anemia (hemoglobin 14.2 g/dl, 39% hematocrit), white blood cell and differential count of 8360 cells/mm, with normal leucocytes, eosinophilia (2508 cells/mm) and normal platelets (332,000 cells/mm). Urinalysis, blood urea nitrogen (BUN) test, tests measuring the levels of liver enzymes, including aspartate aminotransferase (AST) and alanine aminotransferase (ALT), and albumin test yielded normal results (BUN 11 mg/dl, creatinine 0.4 mg/dl, AST 33 U/l, ALT 21 U/l, albumin 3.8 g/dl). Radiographs of the affected limb showed no bone involvement, with soft tissue inflammation only.
An infectious disease specialist was consulted, and the clinical suspicion of chromoblastomycosis was made. Skin lesions were examined using smears and cultures of dermal scrapings, and sections obtained from skin biopsy were also studied. Oral itraconazole was initiated. and because of clinical suspicion of secondary cutaneous bacterial superinfection, intravenous clindamycin and cefotaxime were administered for seven days, with negative bacterial cultures.
The clinical diagnosis of chromomycosis in this patient was confirmed with direct examination with potassium hydroxide (KOH), documenting the presence of hypha-forms, with fungal culture in Sabouraud's agar positive for P. verrucosa (Figure ).
After a 22-day oral treatment with itraconazole, there was a clinical improvement without functional compromise, and P. verrucosa lesions were less evident (Figure ).
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pmc-6334021-1
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A 39 year-old woman was referred to our institution due
to secondary infertility. Menarche was at 14 years of age,
with regular cycles and slight dysmenorrhoea. She had
experienced a term caesarean section 8 years prior due
to failure to progress, and had been trying to get pregnant
for 3 years. Her past medical history was unremarkable.
On gynaecological examination external genitalia and vagina
were normal; two cervical orifices in an anteroposterior
disposition were clearly visualized ()-this was
confirmed with curetting of the posterior canal, which
revealed “normal endocervical mucosa”, excluding other
pathologies such as uterovaginal/cervicovaginal fistulae.
Menstrual blood was observed exiting both cervical orifices.
Hysterosalpingography (HSG) revealed a normal
uterine cavity and tubes, although contrast was visualized
exiting the posterior endocervical canal (). Transvaginal
ultrasound revealed a normal retroverted uterus, with
one internal cervical OS and two endocervical canals diverging
from it in an anteroposterior arrangement ().
Because both these exams did not suggest a uterine cavity
defect, we chose not to pursue with further tests such
as magnetic resonance imaging (MRI) or hysteroscopy,
having to subject the patient to bothersome and invasive
testing that would not alter clinical conduct. Consent form
was obtained and completed by participant.
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pmc-6334245-1
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A 23-year-old woman, gravida1 partus 0, was referred to our clinic at the 21st week of her pregnancy due to the suspicion of fetal hydrocephalus. The fetal biometry scan showed appropriate biometric measurements, but long bone measurements, including femur, fibula, radius, and ulna were one week shorter than the expected gestational age. The detailed scan showed a female fetus with moderate ventriculomegaly, absence of the cavum septum pellucidum, a dilated third ventricle (), echogenic lenses (), retrognathia (inferior mandibular angle <50°), hypotelorism (binocular distance at 5th percentile and inter-ocular distance at 50th percentile), and microphthalmia (ocular diameter <5th percentile) ().
Karyotyping and fetal magnetic resonance imaging (MRI) were scheduled owing to findings related to a chromosomal anomaly or a syndrome. Fetal MRI showed agenesis of the corpus callosum, ventriculomegaly, hypotelorism, and bilateral congenital cataracts. Amniocentesis and further karyotyping showed 46, XX chromosomes. Intrauterine fetal death occurred at the 23rd gestational week. A 500-gram female fetus was delivered vaginally after cervical preparation and proper induction. Pathologic autopsy showed narrow palpebral fissures, a long philtrum, cupid’s bow upper lips with a thin vermilion border, and facial hirsutism and low-set ears ( and ), bilateral absence of corneal endothelium and Descemet membrane, bilateral optic nerve degeneration ( and ), bilateral cataracts, agenesis of the corpus callosum, and hydrocephalus.
The autopsy council, including ophthalmologists, confirmed the diagnosis of Peters plus syndrome. The parents were not consanguineous, and their relatives did not indicate a history of such anomalies. Further microarray analyses [Affymetrix, GRCh37 (hg19)] revealed normal chromosome copy numbers. Analysis of the genes PAX6 (11p13), PITX2 (or RIEG1) (4p25-26), PITX3 (RIEG/PITX homeobox gene family) (10q25), CYP1B1 (cytochrome P4501B1 gene) (2p22), FKHL7 (Forkhead transcription factor) and B3GALTL gene (13q12.3) revealed no deletions or duplications in these genes. DNA sequencing would inform us about specific point mutations of these genes that have the potential to play a role in Peters plus syndrome. However, due to the scant amount of DNA in our sample, we could not perform detailed sequencing of these genetic regions.
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pmc-6334247-1
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A 27-year-old female, para-3-live-1, with gestational hypertension and oligohydramnios presented to the gynecologic emergency at 34 weeks’ gestation in labor. Emergency lower segment cesarean section was perfomed in view of fetal distress. The child was born with a birth weight of 1.6 kg and was stable. There were no congenital anomalies in the child. The placenta was sent for histopathologic examination. On gross examination, the placenta was complete and measured 12´11´3 cm with the attached umbilical cord measuring 18 cm in length. The umbilical cord contained 5 blood vessels (). On microscopy, sections from the placenta revealed ≥10 capillaries each in ≥10 terminal villi in ≥10 non-infarcted areas examined in ≥3 low power (10´) fields of placenta (). Immunohistochemically, the capillary endothelial cells showed uniform positivity with CD34, demonstrating more capillaries than were easily discernible using hematoxylin-eosin staining (), and staining for smooth muscle actin (SMA) was negative (). There was no evidence of increased cellularity or fibrosis in the stroma. Sections from hemorrhagic areas showed ischemic necrosis (). Sections from the umbilical cord showed 5 blood vessels; 4 arteries and 1 vein () and an omphalomesenteric duct remnant (). Placental membranes were histopathologically unremarkable. A diagnosis of chorangiosis placenta with 5 blood vessels and omphalomesenteric duct remnant in the umbilical cord was given.
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pmc-6334315-1
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We report a case of a 41-year-old male, immunocompetent, with no other comorbidities who went to the hospital to investigate unintentional weight loss in the last three months and to investigate a hard and palpable mass in the left supraclavicular region. He underwent series of laboratory tests and several imaging tests, such as blood cells count, T-cells immunophenotypes, analysis of B and NK-cells, and expression of interferon gamma receptor searching for immunodeficiencies—all in the normal range: neutrophils 5,72 mil/mm3 (reference titles 4,00 -11,00 mil/mm3), lymphocytes 3,69 mil/mm3 (reference titles 1,60 - 7,00 mil/mm3), monocytes 0,55 mil/mm3 (reference titles and eosinophils 0,07 mil/mm3 (reference titles 0,05 - 0,50 mil/mm3); inflammatories parameters like C-reactive protein 151,1 mg/L (reference titles < 5,0 mg/L) were elevated; and inflammatories parameters like DHL 191 mg/L (reference titles 135-225 mg/L) were normal. Cryptococcal capsular antigen dosages were made in the blood and spinal fluid, giving positive results (reagents) with a titre of 1:32. Viral serologies like HIV, hepatitis, and HTLV were all negative; acid-alcohol resistant bacillus (BAAR) spur was negative.
He also performed same imaging studies such as chest X-ray (), chest computed tomography (Figures , , and ), and ultrasonography (), which demonstrate mediastinal and left supraclavicular masses, interpreted as lymph node conglomerates of unknown etiology. Therefore the main diagnostics hypothesis was lymphoproliferative or granulomatous infectious diseases, especially tuberculosis.
He underwent a fine needle aspiration () of the left supraclavicular mass. Histopathology (Figures and ) showed a granulomatous inflammation with fungal identification, and immunohistochemistry was positive for Grocott-methenamine silver nitrate and mucicarmine (Figures and ). The final diagnostic was Cryptococcus neoformans var. gattii. Ziehl-Neelsen coloration was negative (Figures and ).
He was first treated clinically, with intravenous antifungal therapy for almost 60 days (6 days of fluconazol being replaced with 57 days of flucytosine and 59 days of B-amphotericin lipidic complex), but he did not improve, with remaining pulmonary symptoms.
Therefore, a multidisciplinary team decided for surgical resection. The lesion was almost entirely resected (Figures and ). Histopathology and cultures confirmed the lesion as cryptococcoma.
The patient was being followed clinically and radiologically () and had no symptoms or complications so far.
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pmc-6334317-1
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We cared for a 71-year-old man with a 45-year history of type 1 diabetes. He had used an insulin pump for years with a current daily dose of 73 units of insulin. His hemoglobin A1C values had ranged from 5.9 to 7.4% in the last ten years.
The day prior to admission, the patient developed sudden persistent hyperglycemia. He required 326 units of insulin injections within 24 hours, in addition to the 30 units of basal insulin via his pump. His glucose finally decreased to 85 mg/dl six hours before presentation to the emergency department (see ). He had normal vitals on presentation. Evaluation, including complete blood count, chemistry panel, blood cultures, and chest radiograph, was normal. Cortisol was not measured.
Upon obtaining further history, the patient reported being in his usual state of health except for a psoriasis flare for which he had used fluocinonide 0.1% cream in the two days prior to presentation. Although he had used a small amount of cream on his hands before, this time he applied the cream to a larger area, including his abdomen, twice a day, using occlusive techniques to increase effectiveness. While hospitalized, the patient was kept on an insulin infusion, requiring 0.25-3 units/hour. On hospital day 2, he was transitioned to his insulin pump using his prior-to-admission settings. He was discharged home and advised to discontinue using the fluocinonide cream. On outpatient follow-up, he did not report further hyperglycemia.
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pmc-6334320-1
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A 38-year-old female patient came with a chief complaint of difficulty standing up from squatting position since 2 years ago. The patient also suffered heaviness and numbness from her hips that radiated to both of her knees and ankles. The symptoms worsened steadily in the past 4 months with both lower limbs getting weaker. Laboratory results came out normal, with no signs of infection or positive tumor markers. Radiological examination showed no apparent abnormalities as well. An MRI was obtained, and a tumor mass in the intradural region level of T10–T12 was found (). At that time, the patient was offered surgery, but she chose to undergo treatment with a bone setter. Around two months later, the patient returned to hospital with profound weakness on her lower extremity. Her physical examination revealed paresis from her thigh on both lower extremities grade 1-2/5 power in left and right lower limbs, respectively. Increased patellar reflexes were found on both limbs. Another MRI was performed and showed that the mass had grown to lumbar vertebrae L2, accompanied with worsening of the neurological statuses and impaired sensibility, as well as defecating and urinating problems (). From the history, spinal manipulation procedure was performed by a bone setter, although no specific techniques were available for review.
A surgical procedure was proposed for exploration and decompression to the patient. The operation started by opening the lamina on T10–T12 levels, followed with laminectomy and hemostatic procedure to stop the bleeding, until the dura was exposed (). A dense mass from T10 to T12 was palpable from the dura layer. After we exposed the lamina, we observed that the dura was tense from touch, and a solid mass underneath the dura was palpable from T10 to L2. Intradural tumor excision was performed by a sharp 3 mm incision in the midline of the dura and then continued with blunt dissection, opening the dura layer to caudal L2 and to cranial T10. Dura was then parted with stay thread until the vessel-rich tumor mass was exposed. The tumor mass was excised, and the surgical field was contaminated by blood from hematomas from tumor vessels (). Bleeding was found to originate from the anterior part and posterior part of the cord, no bleeding source from the cerebrospinal fluid nor the subarachnoid space. The tumor mass was successfully evacuated with fragments of hematomas and necrotic tissues. The dura layer was then closed with a continuous suture. The tumor mass was fixed and transported for histopathology examination ().
At the time of discharge, the patient did not regain the function on her lower extremities (1-2 out of 5 on neurological motor examination). After six months of follow-up, some improvement on her lower extremity function was noted. Motor strength was returned to 3-4 out of 5, and the patient was able to ambulate using a walker. No improvement of her bowel and bladder symptoms was noted.
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pmc-6334334-1
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A 74-year-old male patient underwent left total knee arthroplasty (TKA) at our institution for degenerative knee osteoarthrosis. He had an uneventful postoperative course with no history of delayed wound healing or persistent drainage. Four years later, he presented with a 2-month history of a gradually developing painless swelling over the anterior aspect of the operated knee; the swelling was associated with a small sinus that was extruding a straw-coloured fluid. He had no history of fever, decreased appetite, or weight loss. He had no other musculoskeletal, respiratory, or systemic symptoms of note. He had no history of antecedent trauma, recent travel, or contact with infectious diseases. The patient is a known hypertensive, but the blood pressure was well controlled with treatment, and he is otherwise healthy. He is a retired teacher with no history of involvement in activities requiring excessive kneeling. He is ambulatory in his community and can walk comfortably with the assistance of a cane.
The patient's general physical examination results were within normal limits; positive physical findings were limited to the involved knee. There was an anterior knee swelling involving mainly the prepatellar area, approximately 7 cm in diameter, fluctuant, and not tender to palpation, with minimal surrounding erythema; the erythema was present mainly at the punctum. The punctum was draining a yellowish discharge on pressure (). There was no bony tenderness at the patella, distal femur, or proximal tibia. There was no detectable knee effusion, instability, or crepitus. The range of motion was well preserved (5–110°), as it was a prosthetic knee. It was only painful at the end of flexion as this movement compressed the prepatellar bursa.
Plain radiographs of the knee showed a prepatellar soft tissue swelling (). There were no obvious bony changes, osteolysis, or loosening at the bone-prosthesis interface. Needle aspiration of the prepatellar bursa yielded 50 mL of slightly turbid straw-coloured yellowish fluid that was sent as per our protocol for cell count determination, microcrystal analysis, Gram staining, and Ziehl–Neelsen (ZN) staining for acid-fast bacilli (). Cultures for aerobic and anaerobic bacteria, Mycobacterium tuberculosis, Brucella, and fungi were requested.
Considering the patient's age, chronic presentation, and the presence of sinus, he was admitted with a diagnosis of infected prepatellar bursitis. The primary aims of admission were wound dressing, awaiting aspiration results, and further work-up. Aspiration results revealed normal cell counts, no crystals, and no organisms on Gram stain. To our surprise, ZN stain revealed acid-fast bacilli consistent with typical tuberculous infection; the bacterium was confirmed on culture 6 weeks later as Mycobacterium tuberculosis-sensitive to rifampicin, isoniazid, ethambutol, and streptomycin. Cultures for bacteria, Brucella, and fungi were negative. Aspiration was repeated and yielded similar results. The blood work-up showed normal total and differential white blood cell count and slight elevation of both erythrocyte sedimentation rate (ESR) (80 mm/hr; normal: 30–70 mm/hr) and C-reactive protein (CRP) (8 mg/L; normal: 0–4 mg/L). Tuberculin skin test revealed a negative result (<5 mm induration at 72 hrs), and further work-up including chest radiograph and echocardiogram revealed no evidence of systemic disease. A triple three-phase bone scan displayed normal uptake both at the bone-prosthesis interface and at the patella. An infectious disease consult was obtained. The patient was started on rifampicin (600 mg/day), isoniazid (300 mg/day), pyrazinamide (1500 mg/day), and ethambutol (800 mg/day) for 2 months and continued on the same dosage of rifampicin and isoniazid to complete a 6-month course.
Three weeks later, the swelling significantly subsided in size and the sinus healed; therefore, the patient was discharged. He was reviewed at 6-week intervals at both the orthopaedic and infectious disease clinics for clinical progression and for any side effects of the medication. At the most recent 6-year follow-up, he was doing well with no evidence of local recurrence or prosthetic loosening ().
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pmc-6334338-1
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A previously healthy 67-year old male presented to another hospital complaining of dry cough, wheezing and mild dyspnea. Physical examination was unremarkable, except for the signs of bronchoconstriction. The laboratory tests revealed a marked increase in the number of eosinophils in the peripheral blood and thus a diagnosis of eosinophilic asthma was made. He was given inhaled bronchodilators and corticosteroids which induced a moderate improvement of symptoms. Four months later his symptoms worsened and was then diagnosed as Chronic Eosinophilic Pneumonia and oral methylprednisolone was added, which induced a minor improvement of symptoms without affecting eosinophilia. In addition, dry cough and respiratory discomfort reoccurred along with tapering the methylprednisolone to 10 mg/day. He was referred to our hospital in July 2016 for further evaluation. He had no smoking history and his medical history was unremarkable. On examination, vital signs were stable except for requiring 1L of nasal cannula oxygen. The SaO2 was 96% on 1L oxygen. He had decreased breath sounds in the lower right lung field with fine crackles. He had no raised JVP, murmurs, gallop or peripheral edema. Chest x-ray revealed right ground glass opacities (GGOs). A high-resolution CT scan revealed GGOs surrounded by consolidation in the right lower lung field.
Main laboratory findings were as follows: WBC 7,770/μl, with eosinophils 52.3%; red blood cells (RBC) 366 × 104/μl; hemoglobin (Hb) 8.6 g/dl; Platelets (Plt) 25.5 × 104/μl; C-reactive protein 2.66 mg/dl (normal <0.3 mg/dl); lactate dehydrogenase (LDH) 243 IU/L (normal range <225 IU/L); IgE 254 IU/ml (normal <232 IU/ml); Soluble IL-2 receptor (sIL-2R) 495 U/ml (normal 150–505 U/ml); serum thymus and activation-regulated chemokine (TARC) 119 pg/mL (Table ).
Bone marrow (BM) aspirate demonstrated infiltration of eosinophils (26.2% of the total BM cells) without dysplasia. The percentage of blast cells in the BM was 2.4% with trilineage dysplasia seen in megakaryocytes, as well as in myeloid and erythroid lineages (Figures ). Chromosomal analysis of BM cells showed 46, XY, +1, der(1;7) (q10;p10) in 13 of 20 metaphases (Figure ). He was negative for PDGFRA, PDGFRB rearrangement or FGFR1, or with JAK2 mutations. Accordingly, a diagnosis of MDS (refractory cytopenias with multilineage dysplasia type) was made, and consequently was categorized as intermediate risk, according to IPSS-R and intermediate-1 risk according to the IPSS scoring.
The patient was treated with 75 mg/m2 azacitidine (AZA) once daily for five consecutive days on a 28-day cycle based (Figure ). After the first cycle of AZA, the number of eosinophils further increased (WBC 6,570/μl with eosinophils 60.2%), which coincided with the tapering of 10 mg/day. After completing the second cycle of AZA treatment and increasing prednisolone to 30 mg/day, we noticed a substantial decrease in the right lung infiltrate. However, before starting the third cycle of AZA, dyspnea, cough and wheezing significantly worsened and a new infiltrate was detected in the left lower lung field (Figure ). The infiltrate was refractory to various antimicrobial regimens combined with methylprednisolone and the patient's condition deteriorated, leading to respiratory failure and death.
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pmc-6334338-2
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A 23-year old male presented to our hospital in April 2005 with maculopapular rash involving >50% of his body and intermittent fever of several weeks of evolution. He had no significant past medical history and denied symptoms of fatigue, body weight loss, or night sweats. Physical examination was unremarkable, except for the presence of a maculopapular rash covering nearly 50% of the skin surface.
Laboratory findings were as follows: WBC 24,300/μl with eosinophils 39.0%; RBC 263 × 104/μl; Hb 10.0 g/dl; Plt 12.5 × 104/μl; C-reactive protein 1.66 mg/dl (normal <0.3 mg/dl); LDH 363 IU/L (normal range <225 IU/L); creatinine 0.95 mg/dl and estimated glomerular filtration rate (eGFR) of 65.7 ml/min/1.73 m2 (according to the modification of the CKD Epidemiology Collaboration Equation for Japanese); IgE 1,156 IU/ml (normal <232 IU/mL). A BM aspirate demonstrated significant infiltration of eosinophils (23% of total BM cells) without dysplasia and a 0.3% of blast cells with dysplasia in the erythroid lineages. Chromosomal analysis of BM cells showed 46, XY, +1, der(1;7) (q10;p10) in 4 of 20 metaphases (Figure ). He was negative for PDGFRA, PDGFRB rearrangement or FGFR1, or with JAK2 mutations.
A diagnosis of MDS (Refractory anemia type) with hypereosinophilic syndrome (HES) was made and was subsequently categorized as low risk according to IPSS-R and intermediate-1 according to the IPSS scoring.
He was initially treated with methylprednisolone (1.0 mg/kg/day) in an attempt to control HES. Within approximately 1 week, significant improvement in the clinical condition was observed, and eosinophil count returned to normal values. However, the maculopapular rash and eosinophilia reoccurred along with tapering the methylprednisolone to 25 mg/day along with a rapid and progressive increase in the serum levels of creatinine (7.61 mg/dl) (Table and Figure ). A renal biopsy was performed for histopathological diagnosis, which showed globally sclerotic glomerulus in four out of 14 glomeruli analyzed by light microscopy. The remaining 10 glomeruli appeared enlarged and the marked diffuse thickening of glomerular basement membranes (GBM) and mesangial cell proliferation were also noted. Mesangial interposition neither endocapillary hypercellularity nor crescent formation in these glomeruli were noted periodic acid methenamine silver staining revealed duplication of the capillary wall (Figure ). A Congo red staining for amyloid protein was negative. A diagnosis of membranoproliferative glomerulonephritis (MPGN) was made, however the patient's condition deteriorated and died from septicemia.
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pmc-6334346-1
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An 85-year-old female patient was admitted to our hospital with fever of 38°C, rigor, right hemiparesis with positive Babinski sign, and strabismus. Her medical history included heterozygous beta thalassemia, hypertension, and diabetes mellitus type 2. Physical examination revealed a blood pressure of 101/66 mmHg with a pulse rate of 81 beats/min and a grade II mitral valve pansystolic murmur. Basal rhonchi were noticed on lung auscultation. No other remarkable findings were revealed from the rest of the physical examination. The patient denied dental problems and had satisfactory oral hygiene. Complete blood count revealed a hematocrit count of 32.6%, a hemoglobin count of 10.3 g/dl (12–16 g/dl), a red blood cell count of 5.36 M/μl (3.9–5.6 M/μl), total white blood cell count of 9.70K/μl (4.0–11.0K/μl) with 58% neutrophils, and a platelet count of 260K/μl (150–400K/μl). Her basal metabolic panel was normal, erythrocyte sedimentation rate was 52 mm/hr, and C-reactive protein levels were 11.50 mg/L (0.0–5.0 mg/L). Her glomerular filtration rate (GFR) was 65 ml/min. Urine and, by omission, only one blood culture was obtained. A brain computed tomography (CT) scan was performed, which excluded intracerebral hemorrhage. Initial treatment included ceftriaxone (2.0 g every day) and clindamycin (600 mg every 8 hours) for a possible aspiration pneumonia and acetylsalicylic acid (325 mg once daily). A second brain CT scan after 4 days revealed ischemic damages to the optic thalamus and the left cerebral hemisphere. A transthoracic echocardiogram revealed mild mitral and aortic regurgitation, a calcified mitral valve, and a mitral valve vegetation of 10 mm. The blood culture was positive for Gemella sanguinis. Gram stain of blood specimens showed Gram-positive cocci in pairs. The specimen in brain heart infusion (BHI) was incubated for 24 h and subcultured in blood agar. The colonies were described as nonhemolytic, tiny, pinpoint, smooth, and translucent to greyish. The organism was finally identified as Gemella sanguinis by a VITEK 2 Compact system. Gemella sanguinis identification via molecular methods was not available not only in the microbiological laboratory of our hospital but, as far as we know, also in the microbiological laboratories of several other hospitals. Furthermore, Gemella sanguinis is included in the VITEK 2 identification Gram-positive card (IGPC), but it is not included in the cards for antimicrobial susceptibility testing (AST) and thus an antibiogram was not feasible by means of this method. Unfortunately, an alternative method was not performed. Moreover, only one pair of blood cultures was taken at admission. However, the patient fulfilled one major (evidence of endocardial involvement) and three minor Duke's criteria (fever, ischemic stroke, and microbiological evidence of active infection with an organism consistent with endocarditis) for infective endocarditis. In the absence of an antimicrobial susceptibility testing for Gemella sanguinis and trying to avoid treatment failure, the treatment was switched, after 5 days, to vancomycin (1.0 g every 12 hours) and gentamicin (80 mg every 8 hours) according to her GFR. Further dental evaluation did not reveal dental lesions. The patient was monitored weekly with multiple transthoracic echocardiograms, and clinical assessment was performed daily in order to identify early the need for surgical intervention. After 1 month of treatment, the echocardiogram showed no definite mobile vegetation, and the patient was kept under conservative treatment. A transesophageal echocardiography after 6 weeks of treatment revealed mild mitral and aortic regurgitation with no definite vegetation or perivalvular abscess. The patient was discharged after having recovered fully.
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pmc-6334347-1
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On March 2010, a 13-year-old female patient referred to the ENT clinic complaining of right sided nasal obstruction, anosmia, intermittent epistaxis, snoring, and hearing loss for 7-month duration. There was no history of trauma, anorexia, or weight loss.
Clinical examination revealed a right sided nasal mass pushing the septum to the left side and extending to the nasopharynx. On throat examination, the soft palate was pushed down by the nasopharyngeal mass. Otoscopy showed dullness and retraction of tympanic membrane bilaterally. Cranial nerves examination was normal. No cervical lymph nodes were palpable. The results of hematological and biochemical investigations were within normal limits.
On radiological evaluation, CT scan revealed an opacification of the right nasal cavity, maxillary, ethmoidal, sphenoid, and frontal sinuses with bone remodeling of the septum to the left side (). Subsequently, the patient underwent endoscopic excision of the tumor that was occupying the right nose, maxillary, ethmoid sinuses, and nasopharynx. The posterior ethmoid, sphenoid, and frontal sinuses were free of the disease. Histopathological analysis showed a small blue cell tumor (). Immunohistochemistry showed the neoplastic cells are positive for CD99 marker (). Molecular study using fluorescence in situ hybridization (FISH) had shown EWSR1 gene rearrangement in 100% of the analyzed nuclei that confirm the diagnosis of ES. The patient was treated with surgery, radiotherapy, and chemotherapy. After a follow-up of 5 years, the patient remains recurrence-free with excellent functional status and quality of life.
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pmc-6334349-1
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A 56-year-old Caucasian female patient underwent Wertheim-Meigs radical hysterectomy as surgical treatment of cervical carcinoma in 1986. Furthermore, radiotherapy of 30 x 8 GY was performed. Her present BMI was 22 kg/m2. She underwent subtotal thyroidectomy because of a cold knot in 2000. Her main medical problem was diarrhea. The patient has been suffering from constant diarrhea for 17 years (stool frequency between 9 and 20 times a day). As part of the diagnostics of the diarrhea H2-breath tests with lactose, fructose and sorbitol were performed. She was diagnosed with a lactose and fructose malabsorption. Furthermore, a Helicobacter pylori eradication is worth mentioning (2013). Several rectoscopies and colonoscopies (2008, 2013, 2014, and 2016) revealed a radiotherapy-induced stenosis in the area of the sigmoid colon. There were never histologic aspects of inflammatory bowel disease. A computed tomography of the abdomen and pelvis revealed a long-range concentric thickening of the rectal wall with blurred confinement and fluid imbibition of the perirectal fatty tissue (2013). These endoscopic and radiologic findings in combination with the clinical picture confirmed the diagnosis of chronic radiation colitis.
Several conservative therapies were performed, including various probiotics such as E. coli strain Nissle 1917, Bifidobacteria (B. bifidum MIMBb75), loperamide, metoclopramid, mesalazine, intestinal tea, psyllium, rice cures, healing earth, etc. None of these therapeutic approaches led to a significant and sustained improvement of her symptoms.
Due to these complaints, the quality of life of the patient was extremely reduced, the social contacts suffered from it, and the patient could hardly leave home due to the diarrhea. Therefore, she asked to have carried out a fecal microbiota therapy in order to improve the intestinal dysbiosis and thus also to improve the symptoms.
On June 27, 2018, after giving informed consent to this individual therapy trial, and after 5 days of pretreatment with rifaximin, the patient had FMT from an unrelated donor with negative serum tests for hepatitis B and C, HIV, CMV, EBV, Treponema pallidum, and negative stool cultures for costridium difficile toxin, parasites, and worm eggs, as well as noro- and rotaviruses. The colonoscopy was performed until the terminal ileum. Between 20 and 40 cm ab ano, a mucosal atrophy and narrowing of the intestinal lumen as a result of radiation colitis was visible. FMT was done with 500 ml stool graft in terms of ileum, coecum, and colon ascendens. After the procedure, she received 2 x 2 mg loperamide and 3 x 2 mg the following day and was discharged without any symptoms. On June 28, 2018, she had stool one time and, on the following day, she developed an increasing nausea and a sense of increasing meteorism without defecation and winds.
On June 30, 2018, the patient was sent to the emergency room due to these symptoms. She had no fever and had no colics.
In a CT scan, a complete small intestinal ileus could be detected; the colon was not involved (see ). Conservative therapeutic attempts were unable to improve the result. That said, the indication for surgery on the following day was made.
A median upper and lower abdominal laparotomy and opening of the abdomen were performed. It came to the protrusion of intestinal loops from the abdominal wall, which were distended. In the distal part of the jejunum there was a strangulation of the intestine with an adhesion.
The adhesion was released and cut. This reversed the strangulation of the bowel. A resection of the small intestine was not required. After surgery, the started diet was well tolerated by the patient. The wounds healed per primam. After discharge from the department of surgery, the gastrointestinal problems had improved for 3-4 weeks, but did then revert to the state before FMT.
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pmc-6334352-1
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This is the case of an 80-year-old G2P2002 Caucasian female with a long history of urge urinary incontinence. She presented to clinic for intravesicular onabotulinumtoxin A injection (150 units). She had undergone this procedure seven times with six- to twelve-month intervals, depending on the return of symptoms, ranging from 50 to 150 units of onabotulinumtoxin A since March of 2011. These treatments have significantly improved her symptoms of urgency incontinence after previously trying several anticholinergic medications and sacral neuromodulation.
Her other past medical history is significant for hypertension, peripheral vascular disease, scoliosis, hypothyroidism, diverticulosis, and open-angle glaucoma. She was diagnosed with paroxysmal atrial fibrillation in the beginning of 2016 and developed renal emboli prior to initiation of warfarin. She was transitioned to rivaroxaban (Xarelto®) in mid-2016 after struggling with frequent clinic visits and limited diet while on warfarin. She tolerated this medication transition well.
The patient had not undergone intravesicular onabotulinumtoxin A injections while on warfarin but however did have a single treatment just one month after initiating rivaroxaban without issues. She returned for the repeat procedure one year later. Using sterile technique, the bladder was filled with 20 mL of 1% lidocaine and 2% viscous lidocaine was administered to the urethra 15 minutes before the procedure. The onabotulinumtoxin A dose was reconstituted in 20 milliliters' saline solution. A 30-degree operative cystoscope was inserted into the bladder. A total of 150 units of onabotulinumtoxin A were injected into the bladder wall in 20 sites with one milliliter in each injection covering the posterior surface of the bladder wall and sparing the trigone. The depth of the injection was set at 3 mm under the urothelium layer with the Laborie injeTAK® (Williston, VT) needle; see Figures –. The patient tolerated the procedure well. There was minor bleeding from a few needle injection sites, but not an atypical amount. She voided immediately after the procedure without difficulty and was sent home from the office feeling well.
Seven hours later, the patient called the clinic and reported two hours of frank blood in her urine with passage of several clots. She reported drinking large volumes of water and frequent voiding without improvement. She was encouraged to keep her bladder full to allow distension to tamponade the bleeding, rather than empty frequently. She was given strict return precautions to present to the emergency department if her bleeding persisted or for any retention symptoms. The following morning, the patient presented to the emergency department in pain with no urine output for the last several hours. She was given intravenous morphine, which alleviated her immediate pain.
A 14-French Foley catheter was placed and slowly drained dark red urine with clots. Only about 200 milliliters returned in the catheter. Several flushes were attempted to alleviate the blockage without success. Continuous bladder irrigation (CBI) was initiated which cleared the obstruction. The patient continued to put out frank blood with the CBI. Her complete blood cell count was normal and did not show a significant drop [15.2/45.8 to 14.0/43.5]. Her pain was completely alleviated with the CBI until new clots developed that caused a repeat obstruction two more times overnight requiring Foley adjustment.
Cardiology was consulted to aid with management of her anticoagulation in the setting of bleeding and her rivaroxaban was held for three days. Following 36 hours of CBI, her urine was lighter, indicating bleeding cessation. The CBI was stopped and the patient was taught to flush the catheter with normal saline.
The patient returned for a scheduled clinic appointment four days later and reported that she only had a few episodes of hematuria that resolved with minimal flushing. The bladder was back-filled with 400 milliliters and the Foley catheter removed. She voided 350 milliliters of clear yellow urine without difficulty. The patient continued on prophylactic nitrofurantoin for ten days. She followed up three weeks later without return of the hematuria. She reported some continued overactive bladder symptoms such as frequent voiding, some urgency incontinence upon standing, and nighttime voids up to four to five times per night; however the frequency of these symptoms was all decreased from prior to her procedure. She continues to find the best solution to manage her symptoms.
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pmc-6334373-1
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A 45-year-old Haitian American female with no significant medical history presented with a six-month history of progressive solid food dysphagia and a one-month history of odynophagia. The patient had lost 15 pounds and was only able to tolerate pureed food or liquids. She had experienced no symptomatic relief on omeprazole 40 mg twice daily for the past two months and did not use tobacco, alcohol, or illicit substances. Her initial blood count and metabolic panel were unremarkable. An esophagogastroduodenoscopy (EGD) revealed erythematous and friable mucosa with ulcerations in the proximal esophagus (). There was a stricture encountered at 15 cm from the incisors through which the gastroscope could not be traversed. Biopsies were taken from the inflamed esophageal mucosa and the proximal lumen of the stricture. Brush cytology was collected through the stricture as there was a concern for malignancy. A subsequent barium esophagram and upper GI series demonstrated 2 cm irregular narrowing in the cervical esophagus, but no abnormalities in the rest of the esophagus, the gastroesophageal junction, stomach, duodenum, or proximal jejunum. Contrast-enhanced computed tomography (CT) of the chest showed no acute esophageal, mediastinal, pulmonary, or cardiac pathology. The esophageal biopsy indicated acute and chronic inflammation with filamentous sulfur granules consistent with Actinomyces; rare fungal hyphal elements were additionally identified (Figures , , and ). The cytology was negative for malignant cells and the acid-fast bacilli (AFB) stain was negative, ruling out Nocardia as a potential pathogen. The patient was started on intravenous (IV) Penicillin for a diagnosis of esophageal actinomycosis and oral Fluconazole for a presumed Candida coinfection given concurrent fungal elements. Her human immunodeficiency virus (HIV) status was negative and her fasting blood glucose was within the normal range. She was discharged on Fluconazole 200 mg daily for 2 weeks and IV Penicillin G 3 million units every 4 hours for 6 weeks followed by oral Penicillin to complete a total of 6 months of antibiotics. Her esophageal culture eventually grew normal oropharyngeal flora and rare Candida albicans. The patient returned to the hospital 6 weeks later due to an acute right upper extremity deep venous thrombosis (DVT) associated with her peripherally inserted central catheter (PICC). Her odynophagia had improved but she was still not able to advance her diet. Repeat EGD was performed, which showed resolution of her esophagitis, but a remaining stricture in the proximal esophagus (). During an attempt to dilate the stricture, a small mucosal tear was induced. The dilation had to be deferred at that point pending mucosal healing. A repeat barium esophagram illustrated the previously identified stricture with no perforation. The patient's PICC was removed and she was discharged on oral amoxicillin 875 mg twice daily to complete the 6-month course. The patient was given a follow-up appointment in our GI clinic where she would be reassessed for esophageal stricture dilation. Unfortunately, she was lost to follow-up.
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pmc-6334378-1
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A 1-year-old male child was transferred to our emergency room with conscious disturbance. He had no history of fever, upper respiratory tract infection, feeding intolerance, abdominal distension, bloody stools or trauma. His medical history included prematurity, gestational age 29 + 3 weeks with necrotizing enterocolitis stage IA. His parents were young and had a history of drug abuse. The initial Glasgow Coma Scale was E1VEM1 when arrived at our hospital. His vital signs were: temperature, 33.5 °C; pulse rate, 124 beats/min; respiratory rate, 18/min; and blood pressure, 58/47 mmHg. A physical examination showed a distended, guarded abdomen and no obvious bowel sounds. The examination was otherwise unremarkable, and there were no signs of skin bruising or retinal hemorrhage. Laboratory studies revealed a hemoglobin level of 13 g/dl and a white blood cell count of 30,240/ul, with 13% neutrophils. Arterial blood gas analysis showed pH, 6.76; pCO2, 22.5 mmHg; pO2, 97.5 mmHg; HCO3, 3.2 mmHg; and standard base excess, − 31.6 mm/L. Biochemistry studies revealed blood urea nitrogen level, 16 mg/dl; creatinine, 1.07 mg/dl; glutamic pyruvic transaminase, 366 U/l; glutamic oxaloacetic transaminase, 485 U/l; Na, 133 meq/l; K, 6.1 meq/l; and Cl 100 meq/l. A chest X-ray showed diffuse bowel gas with dilatation and suspected ileus. A long bone survey showed no bone fractures. Emergency abdominal computed tomography showed acute ischemic bowel over the right-side of the abdomen, pneumatosis intestinalis (Fig. a) and portal vein gas (Fig. b). Brain computed tomography revealed diffuse brain swelling with no subdural or subarachnoid hemorrhage with suspected hypoxic-ischemic changes and severe brain edema (Fig. a). Considering the clinical presentation and image findings, the first impression was septic shock with acute ischemic bowel. We then performed emergency laparotomy which revealed poor perfusion from the ileum to cecum with a necrotic patch on the bowel wall, consistent with acute ischemic bowel. Two weeks later when he was under a stable condition, brain magnetic resonance imaging was arranged which showed subdural hemorrhage of different stages over bilateral fronto-parietal convexities and diffuse axonal injury (Fig. b). Abusive head trauma and abdominal trauma were then diagnosed. He was given total parenteral nutrition, a course of intravenous antibiotics, and ventilatory support. Because of severe brain stem dysfunction, he died on day 43 after admission.
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pmc-6334399-1
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A 67-year-old Japanese man with advanced colon cancer with liver metastasis presented with bowel obstruction in May 2007 and underwent emergency surgery (left hemicolectomy with D3). A pathological examination revealed a well-to-moderately differentiated, type 2, intermediate-type tubular adenocarcinoma (70 × 40 mm) arising in the descending colon. The lesion was associated with pathological evidence of serosal invasion (pSE), an infiltrative growth pattern (INFβ), moderate lymphatic invasion (ly2), and moderate venous invasion (v2). There was no involvement of the proximal margin (pPM0, 150 mm), no distant metastasis (pDM0, 120 mm), and no lymph node metastasis (0/27). A liver biopsy revealed metastatic adenocarcinoma.
His medical history indicated a gastric ulcer in 2003. We did not note any personal or family history of kidney disease, autoimmune disease, or asthma. He worked in an office. He had smoked five cigarettes per day for 50 years and drank alcohol socially.
One month after the operation, he initially received hepatic arterial infusion therapy with 5-fluorouracil (5-FU) from June through to October 2007. After receiving five courses of simplified l-leucovorin plus 5-FU (sLVFU), he had strangulating intestinal obstruction and underwent emergency surgery in January 2008. Second-line treatment with fluorouracil, leucovorin, and irinotecan (FOLFIRI) was started in October 2008 and terminated in May 2009 as a result of renewed progression. From June 2009 he received third-line treatment with modified leucovorin, fluorouracil, and oxaliplatin regimen (mFOLFOX-6) plus bevacizumab. However, in June 2010 a computed tomography (CT) scan revealed progression of liver metastasis again. Considering that our patient had already been treated with the combination chemotherapies FOLFIRI and mFOLFOX-6 and the wild-type RAS status of his primary tumor, treatment with bi-weekly panitumumab monotherapy (500 mg/m2) was initiated on July 20, 2010. He had no adverse events after the initial course of panitumumab. A second course of panitumumab was administered on August 2, 2010. General malaise, leg swelling, and skin rash developed 2 days after the second cycle of panitumumab (2 weeks after the initial dose), and around August 18 the symptoms intensified. However, he had neither joint pain nor abdominal pain during the period. When he visited the out-patient department on August 23, bilateral edema of his legs and bilateral purpura of his forearms had progressed (Figs. and ). Blood tests showed grade III acute renal failure with blood urea nitrogen (BUN) level of 33.8 mg/dL and a creatinine level of 3.10 mg/dL, as well as nephrotic syndrome with a total protein (TP) level of 4.5 g/dL and an albumin level of 1.4 g/dL. Urine analysis showed blood (3+) and urinary protein (4+). Several acanthocytes and 5–9 white blood cell casts were observed in the urinary sediment. He was therefore immediately admitted to our hospital. His height was 164.cm and body weight was 50 kg (6 kg increase in 3 weeks). His blood pressure was 110/60 mmHg and pulse rate was 84 beats per minute. His body temperature was 36.4 °C. The results of his physical examination were relatively unremarkable, except pretibial pitting edema and diffuse purpura on his whole body. There was no neurologic abnormality including mononeuropathy multiplex.
He underwent examinations for differential diagnosis from other kidney diseases: immunoglobulin G (IgG), immunoglobulin A (IgA), immunoglobulin M (IgM), C3, C4, cryoglobulin, proteinase 3-antineutrophil cytoplasmic antibody (PR3-ANCA), and myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA). However, no clinically significant findings were obtained (Table ). Because oliguria (urine volume, 400 mL/day) was present after admission, an albumin preparation (12.5 g twice daily) and furosemide were administered for 3 days. Treatment with prednisolone 40 mg/day was begun immediately. After this treatment, his urine volume increased to 1100 mL, and the generalized edema improved slightly. A skin biopsy was performed to evaluate the purpuric lesions on the lateral lower region of his left leg on August 25, and LCV was diagnosed (Fig. ). A drug lymphocyte stimulation test (DLST) was performed as a supplementary test to differentiate the cause of the drug-induced allergic symptoms. However, the results of all tests were negative for both cetuximab and panitumumab (Table ). As local therapy, betamethasone ointment and moisturizer were applied topically. The skin lesions gradually improved, and only crust remained on August 31. Around August 27, his urine volume decreased to 600–900 mL/day, and edema and his body weight increased. Thus, treatment with indapamide was started on August 31. After this treatment, his urine volume increased to 1500–1700 mL/day. The urinary protein excretion decreased from 7.14 g/day to 6.83 g/day during hospitalization, indicating that he had nephrosis. His kidney function gradually improved after his BUN and creatinine reached peak levels of 60.5 mg/dL and 3.36 mg/dL, respectively, on August 30. His levels of BUN and creatinine on September 9 were respectively 40.1 mg/dL and 2.01 mg/dL, indicating a tendency to decrease, and he was discharged from our hospital on September 13 (Fig. ).
Because the nephrotic syndrome continued, he was hospitalized for kidney biopsy on November 1, but it was cancelled due to emerging hydronephrosis. His serum magnesium level was 1.5 mg/dl (1.9–2.5 mg/dl). This case was discussed at a multidisciplinary conference of the Cancer Institute Hospital. Rechallenge of panitumumab was denied considering the increasing nephrotoxicity. The best supportive care was eventually provided. On November 11, our patient agreed with our decision to provide supportive care. He died of colon cancer progression in May 2011, 48 months after the onset of initial symptoms and after having received 9 months of best supportive care. A needle necropsy of the kidney was performed approximately 40 minutes after death. Global sclerosis was found in 6 of approximately 50 glomeruli, and fibrous crescent formation was recognized in 3 glomeruli, while the components of other glomeruli had collapsed (Figs. and ). On immunohistochemical staining, no deposition of IgA or IgG was found in the glomeruli.
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pmc-6334436-1
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The patient was a 78-year-old man who had consulted the physician for paroxysmal atrial fibrillation (pAf), chronic heart failure, and chronic renal failure. Anti-coagulant therapy was administered to the patient for pAf. At a follow-up examination, the patient complained of tarry stool. The patient had no family history of cancer.
A colonoscopy was performed and revealed a type 2 tumor in the transverse colon measuring 30 × 30 mm (Fig. a). Marking was performed by injecting a black dye into the submucosal layer, near the tumor, for future surgical resection (Fig. b). Biopsy specimens from the tumor suggested a poorly differentiated adenocarcinoma (Fig. a, b). Moreover, laboratory examinations revealed no remarkable abnormality: the carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9) levels were 3.1 ng/ml (< 5.0) and 3.4 U/ml (< 37), respectively. A computed tomography (CT) scan revealed wall thickening, which was the basis for diagnosing the lesion, as the tumor invaded the muscularis propria (T2); moreover, there was no evidence of lung, liver, or lymph node metastases. The clinical diagnosis was T2N0M0, stage I according to the TNM classification (UICC 8th edition).
Laparoscopy-assisted colectomy was carried out 2 months after the initial colonoscopy. The patient did not receive any alternative medications, such as supplements, vitamins, and immunotherapy. We resected the colon, including the marking made during colonoscopy. The resected specimen revealed a 10-mm ulcer with a polypoid lesion of 8.5 mm in the center (Fig. a), but there was no type 2 tumor. The formalin-fixed specimen was cut into 3–5 mm slices. Histological examination demonstrated a marked nonspecific granulation of tissue, indicating fibrillization under the mucous membrane and sloughing off of the epithelium (Fig. b). Moreover, no cancer cells were found in the scar tissue (Fig. c, d). The dissected lymph nodes also did not show the presence of cancer cells. We used immunohistological staining to further evaluate the biopsy specimen. The findings showed that the tumor cells were strongly positive for AE1/AE3 (Fig. c) and positive for p53 (Fig. d), indicating that it was an adenocarcinoma. These findings suggested SR of colon cancer. Hematoxylin-eosin staining showed poorly differentiated adenocarcinoma, with tumor-infiltrating lymphocytes (TILs) in the tumor stroma. Based on these pathological features including poorly differentiated adenocarcinoma and TILs and the tumor location in the proximal colon, we suspected MSI-H CRC (Fig. a, b). Immunohistochemical examination of MMRs showed a lack of MLH1 (Fig. a) and PMS2 (Fig. b) expression in tumor nuclei, in contrast to the positive staining for MSH2 (Fig. c) and MSH6 (Fig. d). The loss of PMS2 expression is known to be followed by the loss of MLH1 expression due to heterodimerization, suggesting that this case was attributed to functional abnormality of MLH1, which is required to generate high level of MSI []. Lynch syndrome was not suspected because of its absence in the family and past histories; therefore, we reached a diagnosis of sporadic MSI-H CRC.
The postoperative course was uneventful. The patient did not receive adjuvant chemotherapy or other anticancer treatment. Six months after surgery, a periodic colonoscopy was performed, and no abnormal findings were seen. Subsequently, there was no evidence of cancer recurrence noted after 1 year.
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pmc-6334462-1
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A 27-year-old white-British female (Patient 1) born to non-consanguineous parents developed intermittent episodes of diarrhea, vomiting and abdominal cramps aged 18, associated with significant weight loss. Symptoms were initially presumed to be post-infectious, given her extensive travel history to Sub-Saharan Africa, South America and South-East Asia. This first episode resolved spontaneously.
Aged 25, she represented with diarrhoea, vomiting, abdominal pain and bloating. Family history was notable for an elder sister (Patient 2) with a diagnosis of Crohn’s disease. Faecal calprotectin was significantly raised (> 600; ref. 0–50⎧g/g). Tissue transglutaminase IgA antibody, serial stool samples for faecal culture, ova, cysts and parasites, and Clostridium Difficile toxin testing, were negative. Gastroscopy revealed appearances consistent with a dilated second part of the duodenum in keeping with possible small bowel obstruction. Colonoscopy was challenging due to a sharply angulated sigmoid colon and significant patient discomfort. Despite multiple attempts, it was not possible to intubate and biopsy the terminal ileum. Colonic biopsies obtained showed a panproctocolitis compatible with inflammatory bowel disease (IBD) (Fig. a). Magnetic resonance (MR) enterography identified a 2 cm segment of terminal ileum with mural thickening and oedema and intermediate enhancement. There was separation of bowel loops in the distal ileal mesentery suggestive of fat proliferation. The remainder of the small bowel and large bowel were normal, with no enlarged nodes, free fluid or fluid collection (Fig. c-e).
A diagnosis of Crohn’s disease was made based on clinical, radiological and pathological findings. Treatment with budesonide and, subsequently, azathioprine was initiated. Four weeks after commencing azathioprine, the patient developed sore throat, headache, myalgia, and pyrexia of 41.1 °C.
On examination, she was of short stature with generalized sarcopaenia. BMI was 16.5 kg/m []. Cardiovascular, respiratory and abdominal examinations were normal with no extraintestinal manifestations of IBD. Higher cognitive function was normal. Cranial nerve, upper and lower limb, and cerebellar examinations were all normal except for depressed reflexes.
She was treated for presumed meningoencephalitis with empirical broad-spectrum intravenous antibiotics and aciclovir, which were stopped following receipt of sterile blood, urine and cerebrospinal fluid cultures. Echocardiography and CT chest/abdomen/pelvis were unremarkable. Withdrawal of azathioprine during admission led to rapid clinical improvement and apyrexia.
Persistent headaches during the episode led to an MRI brain examination (Fig. f), revealing extensive white matter changes that persisted six weeks after stopping azathioprine (Fig. g). Subsequent metabolic investigations identified elevated plasma lactate (5.2 mM), plasma ammonia (56 mM), plasma thymidine (10⎧M) and deoxyuridine (15⎧M), and elevated urine thymidine (0.228 mM) and deoxyuridine (0.203 mM), consistent with thymidine phosphorylase deficiency. Genetic testing revealed two heterozygous TYMP variants: c.401C > A p.(Ala134Glu) [reported previously []] and c.845G > A p.(Gly282Asp) [novel variant], confirming diagnosis of MNGIE. Two years after stopping azathioprine, the patient is well with no active neurological or gastrointestinal symptoms.
Her elder sister (Patient 2) had a longstanding history of diarrhoea with nocturnal symptoms, lethargy, loud borborygmi after eating and difficulty maintaining weight. She too had been diagnosed with Crohn’s disease aged 34 following a colonoscopy that had identified aphthous ulceration in her descending colon (Fig. a) and biopsy findings consistent with inflammatory bowel disease (Fig. b). She had also been treated with budesonide and azathioprine with no improvement in her symptoms. Additionally, she had undergone brain MRI as a healthy control subject for a clinical trial, which identified an incidental leukoencephalopathy (Fig. d). Examination at age 38 revealed bilateral ptosis, reduced upwards gaze and lateral eye movements, generalized sarcopaenia, a mild waddling gait and modified Gowers’ manoeuvre. Speech and cognition were normal. Peripheral tone and power were normal. She was areflexic. There were no cerebellar signs. Her BMI was 14.9 kg/m [].
Subsequent investigations identified elevated plasma thymidine (15⎧M) and deoxyuridine (21⎧M) and elevated urine thymidine (0.6 mM) and deoxyuridine (0.634 mM). Genetic testing identified the presence of the same two TYMP variants c.401C > A p.(Ala134Glu) and c.845G > A p.(Gly282Asp). In the context of having identified TYMP variants, and the common absence of specific histological features of Crohn’s disease, a further retrospective review of colonic biopsies from both patients identified features also suggestive of MNGIE [] (Fig. b, c).
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pmc-6334463-1
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A 20-year-old boy presented with complaints of altered bowel habits and abdominal pain of 6 months duration. The general physical examination and abdominal examination including digital rectal examination were normal. Haematological and biochemical parameters were remarkable, and there was no occult blood in faeces.
A CT scan was carried out that showed a mass in the pelvis arising from rectosigmoid junction; the planes with the bladder were well maintained, and there was no lymphadenopathy or liver/splenic lesions (Fig. ). The patient underwent a colonoscopic examination that showed a proliferative growth in the upper rectum and rectosigmoid junction about 15 cm from anal verge. A biopsy was taken that revealed it to be lymphoma. Immunohistochemistry was performed, and tumour cells were positive for CD20 and CD45 while CD3 was negative (Fig. ). A diagnosis of diffuse large B cell lymphoma was made.
Patient was started on R-CHOP chemotherapy and had a complete response. Patient is on regular follow-up and is disease-free after 2 years.
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pmc-6334469-1
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A 69-year-old female presented with vision reduction and metamorphopsia in her left eye for at least 3 weeks. Her baseline BCVA was 20/70. Fundus photography (Fig. a) showed the intraretinal hemorrhage with a white lesion above the macula. Since the patient was allergic to the fluorescein sodium, there was no FA result. ICGA was not performed due to the short of the contrast agent. OCT scans through the fovea showed serous retinal detachment (SRD) (Fig. b). With the diagnosis of a possible ruptured RAM, the patient received the first intravitreal ranibizumab injection. Four weeks after the first injection, the fundus examination (Fig. c) showed that the bleeding diminished and the white lesion (fibrosis) was more dominant than before. The BCVA did not change. Due to the sustained SRD in the macula (Fig. d), a second intravitreal ranibizumab injection was administered at this visit. Subsequently, one month later, her visual acuity had improved to 20/40. Fundus photography (Fig. e) showed further resolution of the fundus hemorrhage, and only white fibrosis (RAM atrophy) in the superior temporal artery remained. The OCT scan showed the total resolution of SRD (Fig. f). At the one-year follow-up, her BCVA was maintained at 20/30. Fundus examination (Fig. g) confirmed the completed absorption of the hemorrhage, and OCT scans showed a well-preserved macular appearance (Fig. h). Unfortunately, the patient sustained a cerebral infarction after one year, and the remaining follow-up was terminated.
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pmc-6334469-2
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A 76-year-old female developed a deterioration of visual acuity in her right eye for approximately one month. The BCVA was 20/200 in the right eye. Dilated fundus examination (Fig. a) and FA (Fig. a-b) revealed infra-temporal RAM, with surrounding stellate-shaped exudates involving the fovea. The OCT angiogram further confirmed the RAMs (Fig. b). And a heliciform capillary mass in the RAMs was observed in the superficial layer (segmented with an inner boundary at 3 μm beneath the internal limiting membrane and outer boundary at 15 μm beneath the inner plexiform layer). SRD was also observed in the OCT scan through the fovea (Fig. c-d). Her vision was improved to 20/70, accompanied by the increased hard exudate around the fovea (Fig. e) and the resolution of SRD one month after the first intravitreal injection of 0.5 mg of ranibizumab (Fig. f-h). Considering the therapy regimen used for neovascular age-related macular degeneration (AMD), we continued treatment with a second intravitreal injection (ranibizumab). One month after the second injection, the hard exudate diminished (Fig. i-l) and the BCVA improved to 20/50. At the one-year follow-up, the final fundus examination (Fig. m) and FA (Fig. c-d) confirmed the complete absorption of the hemorrhage and the atrophy of RAM. The OCT angiography showed that the capillary mass in the RAM disappeared (Fig. n). The macular anatomy maintained a normal appearance without SRD at the final visit (Fig. o-p).
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pmc-6334469-3
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A 62-year-old female experienced sudden visual loss in her left eye for approximately two weeks. The BCVA was limited to counting fingers in the left eye. Dilated fundus examination (Fig. a) showed preretinal hemorrhage in the macula area. OCT (Fig. b-c) scanning of the fovea showed markedly increased retinal thickness. Considering the dense hemorrhage, we only conducted an ICGA examination. The results showed hyperfluoresence at the inferior temporal area of the edge of the dark area (Fig. a-b). A possible diagnosis of RAM was made. After explaining the possible advantages and outcomes of anti-VEGF therapies, the patient chose intravitreal conbercept (0.5 mg) injection for economic reasons. One month after the first injection, the BCVA did not change. However, the color fundus image (Fig. d) showed the partial absorption of the hemorrhage and a decrease in central macular thickness (673 μm) (Fig. e-f). The patient refused another intravitreal injection for economic reasons. Two months later, the BVCA improved to 20/400, and the corresponding examinations showed satisfactory results (Fig. g-i). At the final clinic visit, six months after the initial visit, her BCVA greatly improved to 20/40, and the ocular findings suggested that the hemorrhage was well absorbed (Fig. j-l). The FA results showed that the macroaneurysm in the inferior temporal artery was fluorescence filled at the early phase (Fig. c) and it did not fade at the late phase (Fig. d). The OCT-A superficial slab also clearly delineated the site of RAM, which was consistent with the FA results (Fig. e-f).
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pmc-6334484-1
|
A 24-year-old patient at 32 weeks of gestation in her second pregnancy, with a
history of recurrent urinary tract infections during pregnancy, was admitted to the
ICU for sepsis secondary to a urinary tract infection with a Simplified Acute
Physiology Score II (SAPS II) of 16 and an Acute Physiology and Chronic Health
Evaluation II (APACHE II) score of 14. At admission, uterine contractions were
confirmed. The patient reported functional class IV (FC IV) dyspnea, while arterial
oxygen saturation (SaO2) was 92%. She was breathing spontaneously with a
Venturi-type O2 mask at 50%, she was using accessory muscles
(supraclavicular retraction), and exhibited RR of 36 cycles per minute (c/m) and
heart rate (HR) of 134 beats per minute (bpm). A frontal view chest X-ray showed
bilateral infiltrates (). The condition
was interpreted as AHRF in the context of sepsis due to urinary tract infection.
NIMV was started, but the patient showed low tolerance to the method and to
different interfaces, leading us to implement an alternative method. HFNC (AIRVO
2®, Fisher & Paykel, New Zealand) therapy was used
initially with an inspiratory flow of 50L/minute (L/m), temperature (Tº) of 37ºC,
and FiO2 of 100%, as indicated by the institution's protocol. The
parameters were immediately adjusted according to patient's tolerance, lowering
support to: inspiratory flow of 30L/m, Tº of 31ºC, and FiO2 of 53%. With
these parameters, a significant clinical improvement was observed as evidenced by
the patient's ventilatory mechanics, arterial oxygenation, SaO2 (97%), HR
(126bpm) and especially the RR (26c/m) (). Four hours after the start of HFNC therapy, delivery was decided due
to persistence of uterine contractions and sepsis. In the operating room, the
patient underwent a cesarean section with spinal anesthesia, without requiring
endotracheal intubation (ETI) and using HFNC during the procedure. The neonate
weighed 2,190 grams, and the 1- and 5-minute Apgar scores after birth were 8 and 9,
respectively.
In the postoperative period, we attempted to discontinue HFNC therapy, but the
patient quickly developed a rapid and shallow breathing pattern with the use of
accessory muscles, and thus, HFNC use was reinstated, with immediate clinical
improvement. Urinary tract tomography revealed a right ureteral stone. A double-J
catheter was placed, and endoscopic lithotripsy was performed. Twenty nine hours
after HFNC therapy was started, this support was discontinued, and O2 via
nasal cannula at low flow was placed, with good tolerance. Three days after
admission to the ICU, the patient was moved to general ward. Mother and baby were
discharged home 8 and 15 days after hospital admission.
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pmc-6334827-1
|
On May 3, 2017, a woman aged 65 years with no preexisting health conditions began
experiencing pain and paresthesia in her right arm while gardening. On May 6, the
patient sought care at an urgent care facility for the arm pain. She received a
diagnosis of carpal tunnel syndrome and was prescribed a nonsteroidal
anti-inflammatory drug and hydrocodone. On May 7, she was evaluated at hospital A
with shortness of breath, anxiety, insomnia, and difficulty swallowing water. The
patient expressed concern about exposure to a toxic substance. Diagnostic test
results including complete blood count, serum chemistry, D-dimer (to rule out
thromboembolism), troponin, magnesium, electrocardiogram, and chest radiographs were
unremarkable. She was given 0.75 mg of lorazepam for a presumed panic attack and
discharged. Upon entering the car, she experienced claustrophobia and shortness of
breath and immediately returned to hospital A’s emergency department (ED),
where she received an additional 0.25 mg of lorazepam and was again discharged.
On May 8, she was transported from her residence by ambulance to the ED of hospital B
with chest discomfort, shortness of breath, progressive paresthesia involving the
right shoulder and arm, and increased anxiety. On examination, she was agitated,
tachycardic, and intermittently tachypneic. Her neurologic exam was notable for
dysmetria (a type of ataxia). Laboratory results were notable for elevated cardiac
enzymes, a serum troponin I level of 1.05 ng/mL (normal <0.02 ng/mL), and a serum
lactate level of 8.8 mmol/L (normal, 0.7–2.1 mmol/L). Electrocardiogram
results suggested acute cardiac ischemia
with atypical chest pain. The patient underwent emergency cardiac catheterization,
which indicated normal coronary arteries.
On the evening of May 8, the patient became progressively agitated and combative and
was noted to be gasping for air when attempting to drink water. Hospital staff
members questioned family about animal exposures, and the patient’s husband
reported that she had been bitten on the right hand by a puppy approximately 6 weeks
before symptom onset while touring in India. According to the husband, the patient
cleaned the wound with the help of the tour operator but did not seek further
medical treatment. The patient had no record of a pretravel health screening, did
not receive rabies preexposure vaccination before the trip, nor had she ever been
vaccinated against rabies.
On the morning of May 9, the patient required endotracheal intubation and mechanical
ventilation for increasing somnolence, oral secretions, and oxygen desaturation;
peak axillary temperature was 100.6°F (38.1°C). Electroencephalography
demonstrated low-amplitude unreactive delta activity suggestive of severe
encephalopathy. In light of the concern for human rabies, the patient was sedated
with ketamine and midazolam, and the Virginia Department of Health was notified;
because rabies PEP is ineffective for treatment of rabies and not indicated after
the onset of symptoms, PEP was not administered. A lumbar puncture was performed.
Cerebrospinal fluid (CSF) lactate was elevated (2.6 mmol/L;
normal = 0.5–2.2 mmol/L), and CSF white blood cell count was 1
cell/μL (normal = 0–5
cells/μL) with 19% polymorphonuclear leukocytes and 81%
mononuclear leukocytes, consistent with encephalitis. CSF, serum, saliva, and nuchal
skin biopsy specimens were collected on May 9 and submitted to CDC for rabies
testing on May 10.
On May 11, rabies was confirmed by the detection of rabies virus RNA by real-time
reverse transcription polymerase–chain reaction (real-time RT-PCR) in saliva
and skin biopsy specimens, and rabies virus antigen by direct fluorescent antibody
testing of the skin biopsy (). No
antirabies virus antibodies were detected in serum or CSF. Sequencing of the virus
identified a canine rabies virus variant associated with dogs in India.
On May 13, the full Milwaukee protocol (an experimental protocol for persons with
rabies that has demonstrated inconsistent, rare success) () was implemented with the addition of
favipiravir (). On May 15,
the patient developed profuse oral secretions. On May 17, aggressive titering of
ketamine and midazolam was initiated to address increased agitation, and
dexmedetomidine was started to limit sympathetic responses during weaning. On May
18, repeat CSF studies continued to demonstrate no white blood cells, normal protein
level of 36.0 mg/dL, and a normalized lactate level of 2.2 mmol/L. Interferon beta
was started May 18 in the hope of stimulating an immune response; however, repeat
CSF analysis demonstrated no evidence of antirabies virus antibodies (). Rabies virus nucleic acid was again
detected in saliva by real-time RT-PCR on May 19. On May 21, the family decided to
withdraw advanced medical support, and the patient died shortly thereafter. Rabies
virus was isolated from brain tissue postmortem.
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pmc-6334887-1
|
A 73-year-old male with a medical history of hypertension and diabetes mellitus type 2, presented with complaints of vomiting for 4-5 days. Vomiting was non-bloody and non-bilious in nature and was associated with nausea and headache. The headache was sudden in onset, bifrontal, sharp in nature, non-radiating, and 8/10 in severity on a numerical rating pain scale (NRS). The patient also complained of constipation for 4-5 days. He denied associated abdominal pain or distension. There were no reports of associated visual disturbances, neck pain, neck rigidity, or fever. The patient also denied recent alcohol intake or unusual food intake prior to the onset of symptoms.
Initial vitals were remarkable for hypotension with blood pressure of 68/54 mm Hg which improved to 94/55 mm Hg after two liters of normal saline infusion. Physical exam was remarkable for dry mucosa but no focal neurological deficits were noted.
Computed tomography (CT) head was reported to be unremarkable with no evidence of acute intracranial pathologies as shown in Figure . Initial blood workup revealed hyponatremia with serum sodium of 128 mmol/L (normal: 137-145 mmol/L) and hypokalemia with serum potassium of 3.2 mmol/L (normal: 3.5-5.1 mmol/L). Serum bicarbonate was 27 mmol/L (normal: 22-30 mmol/L) and serum glucose was 171 mg/dL (normal: 74-105 mg/dL). Blood urea nitrogen and serum creatinine were 56 mg/dL (normal: 9-20 mg/dL) and 3.3 mg/dL (normal: 0.8-1.5 mg/dL), respectively.
The patient was admitted with an initial impression of acute kidney injury secondary to acute volume depletion resulting from vomiting. Aggressive hydration was initiated. Electrolytes were replaced. Over the next several hours, the hypotension resolved with the improvement in kidney function. However, the patient continued to report a persistent headache and nausea. Approximately 12-18 hours later, the patient started to report double vision with the development of left-sided ptosis. Magnetic resonance imaging (MRI) brain without contrast, as shown in Figure , revealed a pituitary mass of 1.2 cm x 1.3 cm x 1.2 cm size, arising from the left side of the pituitary gland within the sella, which was peripherally hyperintense on the T1 image. Also noted was the rightward displacement of the pituitary stalk with a mild extension of the tumor into the suprasellar cistern without displacement of the optic chiasm. Subsequent blood tests revealed an extremely low level of random serum cortisol at 0.69 mcg/dl (normal: 4.46-22.7 mcg/dl). Thyroid stimulating hormone (TSH) level was 0.3 mIU/ml (normal: 0.47-4.68 mIU/ml), free thyroxine (FT4) level was 1.4 ng/dL (normal: 0.78-2.19 ng/dL), and serum prolactin level was 2.6 ng/ml (normal: 3.7-17.9 ng/ml). Pituitary apoplexy was diagnosed and intravenous hydrocortisone was infused. Neurosurgery was consulted immediately and the patient was transferred to a tertiary care hospital for surgical decompression.
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pmc-6334888-1
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A 41-year-old female presented with a two-month history of right breast erythema and nipple erosion (Figure ). Needle core biopsy showed a grade two invasive ductal carcinoma; estrogen receptor 8/8, progesterone receptor 4/8, and human epidermal growth factor receptor two negative via silver in situ hybridization. There was extensive lymphovascular and dermal invasion. Staging workup with axillary ultrasound, chest and abdomen computed tomography (CT), and bone scan revealed a conglomerated lymph node mass measuring 1.5 cm in the right level I-II axilla but no distant metastases (cT4dN1M0 [IIIC]). Thirteen years earlier she had presented with Raynaud’s phenomena, arthralgias, alopecia, malar rash, lupus nephritis, and thrombotic thrombocytopenic purpura. She was diagnosed with SLE according to the American College of Rheumatology criteria and was treated with plasmapheresis, six months of cyclophosphamide, and 24 months of mycophenolate mofetil. She was then placed on irbesartan and maintenance hydroxychloroquine. Over subsequent years her SLE had remained stable with no other organ involvement. A summary of her autoimmune disease activity is listed in Table .
The patient received three cycles of three weekly fluorouracil, epirubicin, and cyclophosphamide followed by three cycles of three weekly docetaxel with clinically stable disease. One month later she had a right total mastectomy, sentinel node biopsy with completion right-sided level I-II axillary dissection, and a prophylactic left-sided mastectomy. Pathology showed a 4-cm residual tumor and 3/15 nodes positive for residual disease (ypT4dN1aM0R0).
The patient healed well after surgery and after thorough discussion which included the indications and risks of adjuvant RT in the setting of well-established SLE, the patient elected to proceed with RT.
Setup and treatment fields for RT were designed to minimize lung and cardiac doses. All nonboost RT treatments were performed with deep inspiration breath hold technique and used a combination of electron and photon fields (Figure ). The plan was field based on 3D CT simulation image sets and aimed to cover a clinical target volume including the chest wall and regional lymphatics. No planning target volume was defined but was accounted for with direct placement of fields. Organs at risk were contoured and included: thyroid, heart, ipsilateral lung, contralateral lung, and liver. The axillary level II-III and supraclavicular nodal regions were treated with an anterior-posterior, parallel opposed pair of fields using field-in-field planning and a mixture of 6 and 15 MV energies to improve homogeneity. A single isocenter was placed at the inferior margin of the nodal fields and was matched to a mixed 6 and 15 MV photon tangent pair to treat the lateral chest wall and level I-II of the axilla. This was matched and feathered medially to an anterior 9 MeV electron beam. A second, 12 MeV electron beam was matched to the medial aspect of the 9 MeV beam to provide internal mammary coverage. A 0.5 cm bolus was used for the lateral chest wall photon beams and the 12 MeV electron beam and 1 cm bolus were used for the 9 MeV electron beam. A 12 cm, clinically delineated boost volume around the surgical scar was treated with a shallow, 6 MV, tangent pair and 0.5 cm bolus using free breathing.
The final isodose distribution for the primary treatment (excluding boost) is shown in Figure . Prescribed dose was 50.4 Gy in 28 fractions (50.4/28) followed by 7.5/3 to the boost volume. The right lung volume receiving 20Gy (V20) and V5 were 13% and 65% (local clinical constraints are V20<30% and V5<80% for the ipsilateral lung). Mean heart dose was 3.59 Gy (clinical constraint: mean dose<4.0 Gy). Thyroid was blocked from the primary fields and received only scatter dose. Varian Medical Systems’ Eclipse software™ version 13.6 (Varian Medical Systems Inc, Palo Alto, USA) was used. Electron and photon dosimetry were calculated using Monte Carlo and the Anisotropic Analytical Algorithm, respectively.
The patient completed RT over 50 elapsed days then started adjuvant exemestane with three-monthly leuprolide injections. She developed CTCAE v4 grade one and subsequently, grade three dermatitis by days 20 and 57 []. This was managed conservatively with twice daily Glaxal Base (R) dressings and daily aeration of the breast. It resolved, leaving her with anhidrosis and mild tanning (Figure ). CT imaging showed only subtle lung scarring and she did not develop clinical evidence of pneumonitis, pericarditis, right upper extremity lymphedema, symptoms of brachial plexopathy or any other signs or symptoms attributable to RT toxicity. At one year she was free of local and systemic recurrence.
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pmc-6334889-1
|
A 19 year-old Caucasian woman presented to the neuromuscular clinic in November 2004 with generalized weakness, left-sided ptosis, fatigue and dyspnea at rest. She was diagnosed with anti-acetylcholine receptor antibody-positive MG and was treated with azathioprine (150 mg), prednisone (60 mg daily) and pyridostigmine (60 mg QID). An associated thymic abnormality was explored, and computed tomography (CT) of the thorax revealed a 4.3 x 5.7-cm (transverse x anteroposterior [AP]) anterior mediastinal mass, suspicious of a thymoma (Figure ). Prior to surgery, her prednisone dose was tapered to 25 mg daily to reduce the likelihood of wound complications, and she underwent three courses of plasmapheresis (5-L exchanges) to reduce the chances of peri-operative worsening in her MG. A trans-sternal thymectomy was performed in April 2005 without complication. The pathology confirmed the diagnosis of a 107-g, 6.5 x 8.5 x 3.5-cm WHO (World Health Organization) type B2 thymoma that was microscopically invasive into the perithymic adipose tissue. No gross invasion was visible, and an octreotide scan revealed no distant metastases. Due to the presence of a thymomatous microscopic invasion, chemoradiation was planned to reduce the chances of local recurrence or intrapleural or systemic metastases.
Plans for chemoradiation were delayed after she presented in May 2005 with episodes of altered awareness and post-ictal confusion. Following thymectomy, she had developed memory loss, receptive aphasia, confusion, lip smacking, delusions and visual hallucinations. Her electroencephalogram (EEG) showed bilateral temporal epileptiform activity, and a CT head showed a subtle loss of gray and white differentiation in the medial aspect of the left temporal lobe. She was admitted to the epilepsy unit and was investigated for herpes encephalitis and LE as the cause for her epilepsy. Magnetic resonance (MR) imaging scan of the head revealed effacement of the left insular cortex and hippocampus posteriorly and T2 hyperintensity in the left temporal lobe (Figure ). Polymerase chain reaction (PCR) testing of the cerebrospinal fluid for the detection of herpes simplex virus (HSV) was negative, but her serum anti-voltage-gated potassium channel antibody (VGKC) was found to be elevated. During the course of her hospital stay (one month), she was started on valproic acid (750 mg BID) and topiramate (200 mg BID) and received a course of intravenous immunoglobulin (IVIg; 2 mg/kg given over three days) for the presumptive diagnosis of immune-mediated epilepsy.
One month later, she underwent three courses of doxorubicin and cisplatin given one month apart. Following chemotherapy, she received 4000 CGy of radiation to the anterior mediastinum in 22 fractions through a conformal technique to avoid damage to the normal tissue. She tolerated her radiation treatment well and did not develop complications to the treatment. As of her most recent CT thorax (July 2016), there was no evidence for a residual thymic tissue or a recurrent thymoma.
Her seizures were well controlled and she was able to discontinue the valproic acid but remained on topiramate (200 mg/day). After her thymectomy and with the medical treatment of her MG, she did well and the doses of her prednisone and pyridostigmine were tapered and discontinued in March 2006. However, in August 2010, she presented with a relapse of MG, which was treated by re-starting 120 mg QID of pyridostigmine and 20 mg of prednisone daily.
In May 2006, she developed polyarthralgias, oral ulcers, patchy alopecia and livedo reticularis on the hands and legs. Her history of thymoma and VGKC immune-mediated LE prompted a workup for autoimmune disease. Bloodwork revealed a positive antinuclear antibodies (ANA) test (1:320), normal complement, a negative rheumatoid factor, a positive extractable nuclear antigen (ENA) test and a double-stranded deoxyribonucleic acid (dsDNA) of 367 IU/mL (reference is less than 15 IU/mL). She was initiated on indomethacin (50 mg/day), hydroxychloroquine (400 m/day) and long-acting nifedipine (Adalat XL 30 mg/day). Her SLE is well-managed on medical treatment.
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pmc-6334890-1
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A 67-year-old man presented for the evaluation of a hard neck mass associated with mechanical pain. He had a four-year history of systemic sclerosis, which has been treated with hydroxychloroquine, calcium channel blockers, and anti-CD-20 (rituximab) infusions. Additional medical history includes controlled hypertension, mixed hyperlipidemia, and restless leg syndrome.
The patient first noticed asymmetric Raynaud’s phenomenon and pigmentation over his hands, with subsequent mild joint swelling, skin dryness, and tightness of hands, fingers, forearms, neck, chest, and face. Physical examination at that time revealed sclerodactyly, pitting scars on several fingertips, nail-fold capillary abnormalities with giant capillary loops and hemorrhages, and matted telangiectasia on the palms, face, and upper chest. No synovitis or tendon friction rubs were noted. Laboratory data revealed the presence of antinuclear antibodies (titer 1:320) and Scl 70 specific antibodies. Pulmonary function tests and transthoracic echocardiographic findings were within normal limits, with no evidence of a restrictive process or the elevation of right ventricular systolic pressure.
Two years later, he complained of a solitary mass on the right side of his neck, which was not present on previous imaging of the area and was slowly increasing in size. He denied neck trauma, dysphagia, odynophagia, or hoarseness but reported mechanical pain, which did not limit his daily activities. There were no other masses in the head, neck, or other parts of his body. Examination revealed a palpable neck mass in the right paramedian region that extended further laterally and anteriorly. Non-contrast computed tomography (CT) of the cervical spine from the skull base through the cervicothoracic junction, with multiplanar reformatted images and CT angiogram of the upper neck revealed a lobulated, calcified mass measuring approximately 3.5 x 2.1 cm centered at the right C3-C4 facet joint with an encroachment of the right transverse foramen. Guided biopsy (not shown) was negative for malignancy and amyloid and consistent with tumoral calcinosis. Positron emission tomography (PET)-CT found minimal hypermetabolic activity centrally within the mass and surrounding soft tissues most likely due to a recent biopsy. Figure shows the CT (A) and PET-CT (B) aspects of imaging of the cervical spine TC in this patient.
Radical resection was not performed at the time, given his minimal symptoms and possibility of injury to the vertebral artery and the need for cervical fusion of his C3-C4 facet joint. Subsequently, his symptoms improved. Repeated examinations revealed no signs of spinal cord involvement. Repeated CT of the neck with and without contrast 18 months after the first CT showed no change in the size of the paraspinal mass. B-cell depleting treatment with rituximab was continued (1000 mg on Days 1 and 15 every six months). Sustained improvement of skin thickening and functional ability was noted. Interestingly, his previous, completely white hair turned gray, which involved not only the scalp but most of the body hair. Recent (March 2018) laboratory serum test values were as follows: creatinine 0.82 mg/dL, calcium 9.6 mg/dL, phosphorus 4.3 mg/dL, albumin 4.3 g/dL, alkaline phosphatase 84 U/L (normal range 38-126 U/L), parathormone (PTH) 37.6 pg/mL (normal range 7.6-77.2 pg/mL), 25-hydroxycholecalciferol 30.8 ng/mL (normal range 30-100 ng/mL). These values have been normal throughout the course of his disease.
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pmc-6335229-1
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A 66-year-old Japanese woman was referred to our hospital with complaints of vomiting. Endoscopic upper gastrointestinal imaging revealed a type 3 tumor at the EGJ (circumference, 56 mm) with stenosis. The epicenter was 3 mm from the EGJ on the gastric side. Computed tomography (CT) showed lymph node metastases along the lesser curvature of the stomach and the proximal splenic artery. The patient was diagnosed with a cT4aN2M0, cStage IIIC lesion according to the Union for International Cancer Control’s TNM classification [].
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pmc-6335233-1
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A 67-year-old man complained of a stomachache and loss of appetite persisting for more than 1 month and was admitted to Fukui General Hospital. The patient’s medical and family history were unremarkable. The patient smoked ten cigarettes a day from the age of 20 to 67 years. The patient also reported heavy alcohol consumption for 10 years or longer but had stopped drinking. A physical examination revealed no anemia, edema, or malnutrition. Additionally, there were no abnormalities in his laboratory data including levels of tumor markers such as carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), SCC antigen, and CA125. Endoscopic examination revealed an ulcerated tumor in the lower esophagus, 33 cm from the incisors (Fig. ). The tumor extended from the lower esophagus to the upper part of the stomach. Biopsy specimens showed poorly differentiated carcinoma without any features of differentiation, suggesting poorly differentiated SCC or undifferentiated carcinoma. Upper gastrointestinal fluoroscopy revealed a transdiaphragmatic, circular ulcerative tumor that measured 7 cm along its major axis (Fig. ). Enhanced computed tomography (CT) showed a swollen lymph node along the left paracardiac region and the left gastric artery. No distant metastasis was detected. According to these diagnostic imaging findings, a preoperative clinical diagnosis of T3N1M0 stage III cancer was made using the Union for International Cancer Control (UICC) classification system.
The patient underwent a lower esophageal resection and total gastrectomy with lymph node dissection in December 2008. He had an uneventful recovery. Adjuvant chemotherapy consisted of three courses of 5-fluorouracil (5FU) plus cis-diamminedichloroplatinum (CDDP) and oral tegafur-uracil (UFT) for 1 year following surgery. The patient did not show recurrence for 10 years.
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pmc-6335660-1
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A 75-year-old man with a past medical history of ischemic cardiomyopathy who underwent orthotopic heart transplantation (OHT) in 1997 (biatrial anastomosis) was referred for pacemaker system extraction. His initial posttransplant course had been complicated by sinus node dysfunction with a slow junctional escape rhythm, and he underwent implantation of a single chamber AAI Medtronic 8088B pacemaker with a Medtronic 4068 lead placed in the right atrium shortly after his transplantation. In 2007, the atrial lead had low impedance and impending failure, so a Medtronic 3830 lead was added in the right atrial appendage at the time of generator change.
He developed end-stage renal disease (ESRD) secondary to calcineurin inhibitor toxicity, and hemodialysis was started in 2012. He developed recurrent infections in his left upper extremity fistula site (initially methicillin-sensitive Staphylococcus aureus but later polymicrobial) in 2016 with eventual pacemaker pocket infection requiring full CIED system extraction.
The Medtronic 3830 lead, which had been indwelling for nine years, was extracted using laser energy application along the proximal portion of the lead. The older Medtronic 4068 lead, indwelling for 19 years, required extensive application of laser energy at multiple points along the lead for removal. The pocket was debrided, and the incision was closed using vertical mattress sutures. There was no temporary pacemaker placed, as he was not pacemaker-dependent. The patient was readmitted within 30 days due to concern that the pacemaker pocket site infection had not been fully cleared. This was ultimately treated by drainage of a complex fluid collection associated with the previous pacemaker site. The patient was admitted six months later due to sepsis secondary to disseminated histoplasmosis and ultimately died secondary to multiorgan failure.
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pmc-6335660-2
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A 59-year-old man with a past medical history of nonischemic cardiomyopathy who initially underwent OHT in 1994 (biatrial anastomosis) was referred for pacemaker lead revision. His posttransplant course had been complicated by transplant vasculopathy, and he ultimately required a second heart transplant in 2002 (bicaval anastomosis). He also developed ESRD and underwent deceased donor kidney transplantation in 2004. He developed ehrlichiosis in 2011 in addition to cryptococcal pneumonia and histoplasmosis requiring chronic treatment with antifungals. In 2013, he had syncope leading to a subarachnoid hemorrhage and was diagnosed with sinus node dysfunction in the setting of intermittent sinus bradycardia to less than 20 beats per minute. He underwent dual chamber pacemaker placement in 2013 (Medtronic ADDRL1) with a Medtronic 5076 lead in the ventricular position and a Medtronic 5592 lead placed in the right atrial appendage after an active fixation lead was deemed to be unstable.
He was admitted for volume overload three years later, and pacemaker interrogation revealed undersensing on the atrial channel due to a gradual P wave amplitude decrease from 4.7 mV at implant to ~0.4 mV, leading to asynchronous ventricular pacing and failure to recognize atrial arrhythmias. No change in lead position was detectable on chest X-ray. An atrial lead addition was planned. However, the left subclavian vein was occluded. He underwent extraction of the atrial lead to obtain venous access. A 12 French Spectranetics SLS II laser sheath was advanced over the lead, and minimal application of laser energy was used to free adhesions. Countertraction using a snare was also employed from the femoral vein. The lead was removed, and subclavian access was retained. A Medtronic 3830 lead was implanted in the right atrium. The patient tolerated the procedure well, and he had no complications within the next 30 days. However, he was admitted with cryptogenic encephalopathy two months later which was thought to be at least partially related to subclinical cirrhosis. He was ultimately discharged to inpatient hospice and died shortly thereafter.
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pmc-6335660-3
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A 60-year-old man with a past medical history of nonischemic cardiomyopathy who underwent OHT in 1994 was referred for pacemaker extraction (biatrial anastomosis). His posttransplant course was complicated by sinus node dysfunction, and he underwent dual chamber pacemaker placement (Medtronic P1501) in 2008 with Medtronic 3830 leads in the right atrium and right ventricle. He also developed ESRD secondary to calcineurin inhibitor toxicity and underwent deceased donor kidney transplant in 2008. He was admitted with sepsis secondary to Escherichia coli in 2014, and a TEE during this admission demonstrated vegetations involving the pacemaker leads. He underwent extraction of the six-year-old system with manual traction alone. His hospital course was complicated by worsening renal graft function thought to be secondary to sepsis, which ultimately required reinitiation of dialysis. He was discharged to a rehabilitation facility with a plan for four weeks of intravenous ceftriaxone but was subsequently readmitted with recurrent sepsis secondary to Escherichia coli within 30 days. He was found to have a left atrial appendage thrombus (despite sinus rhythm). The source of his persistent E. coli bacteremia was unknown; however, it was hypothesized that the left atrial appendage thrombus could have been a nidus for recurrent infection. He was discharged on a 6-week course of meropenem with eventual clearance of the bacteremia and reimplantation of a dual chamber pacemaker 10 months later. He ultimately died three years later after a prolonged hospital stay related to ascending cholangitis and septic shock as well as hemorrhagic shock related to a spontaneous retroperitoneal hemorrhage.
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pmc-6335660-4
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A 68-year-old man with a past medical history of ischemic cardiomyopathy who underwent OHT in 1991 (biatrial anastomosis) was referred for pacemaker lead revision. His course had been notable for paroxysmal atrial fibrillation and sinus node dysfunction developing 25 years after transplantation. He underwent dual chamber pacemaker placement in 2017 (Medtronic A2DR01) with a Medtronic 3830 atrial lead and Medtronic 5076 ventricular lead.
He was admitted for management of atrial fibrillation with rapid ventricular response four months after device implantation. Device interrogation during the admission showed undersensing on the atrial channel. He underwent revision of the atrial lead 8 months after the initial implantation with lead removal via manual traction and new lead placement on the posterior right atrial septum due to poor sensing and pacing thresholds elsewhere. He had no immediate complications and was discharged home the same day. He had no complications within 30 days after discharge. However, he died from complications of recurrent aspiration pneumonia unrelated to the procedure two months after lead revision.
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pmc-6335663-1
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A 38-year-old woman with systemic lymphadenopathy and fever was admitted to a local hospital. Performance status was 2 according to the Eastern Cooperative Oncology Group criteria []. White blood cell count (WBC) was 21 × 109/L, with 91% of nucleated cells being small and mature lymphocytes. Mild anemia (hemoglobin, 10.8 g/dl) and moderate thrombocytopenia (platelet number, 46 × 109/L) were also observed (). Flow cytometric analysis revealed that the increased lymphocytes were positive for CD5, CD19, CD20, CD23, and IgGλ (). IgH/cyclinD1 translocation was negative in fluorescence in situ hybridization analysis. Cytogenetic analysis of bone marrow cells demonstrated the normal karyotype. She also demonstrated elevated levels of aspartate transaminase (156 IU/l; normal 13–30 U/l), alanine transaminase (139 IU/l; normal, 7–23 U/l), lactate dehydrogenase (595 IU/l; normal, 124–232 U/l), and total bilirubin (1.8 g/dl; normal, 0.4–1.5 mg/dl). Soluble interleukin-2 receptor was also markedly elevated (10,400 U/ml; normal, 190–650 U/ml; and ). Contrast computed tomography revealed multiple lymphadenopathy, hepatosplenomegaly, bilateral pleural effusion, and massive ascites. Bone marrow biopsy demonstrated a remarkable infiltration of small mature lymphocytes (57% of the total bone marrow cells). Immunophenotype of the major population was the same as that of peripheral blood lymphocytes. A small number of relatively large, blastic lymphocytes were diffusely observed in the bone marrow. Polymerase chain reaction (PCR) analysis demonstrated a single complementarity determining region (CDR-III) signal, indicating clonal B-cell proliferation. Taken together, she was diagnosed to have CLL (Rai stage IV and Binet stage C).
Because of her aggressive disease presentation and suspect of Richter syndrome, R-CHOP therapy (rituximab 375 mg/m2, cyclophosphamide 750 mg/m2, daunorubicin 50 mg/m2 for one day, and prednisolone 100 mg/body for 5 days) was chosen as an initial therapy. After the treatment, her lymphadenopathy, hepatosplenomegaly, pleural effusion, and ascites were improved and 8 courses of R-CHOP were given. Morphologic CLL cells disappeared in peripheral blood. However, flow cytometric analysis revealed that 0.17% of the total bone marrow cells were leukemic cells and that the same single CDR-III signal as the one detected at the diagnosis was confirmed by PCR. These observations suggested the presence of minimum residual diseases (MRD), even after additional three courses of rituximab monotherapy.
Because of young age, suspect of Richter syndrome, and remaining MRD, the patient was referred to the University of Tsukuba Hospital 21 months after the diagnosis for allo-HSCT. The graft was bone marrow from an unrelated female donor with one-allele mismatched HLA. Nonmyeloablative conditioning regimen was chosen containing fludarabine 30 mg/m2 for 3 days and 2-Gy total body irradiation. Tacrolimus and short-term methotrexate were used for graft-versus-host disease (GVHD) prophylaxis (). On day 14, neutrophil engraftment was achieved, and the MRD judged by PCR for CDR-III became undetectable with the bone marrow cells. Donor-cell chimerism in the bone marrow was 70.4%, when evaluated by short tandem repeat- (STR-) PCR analysis. However, a progressive neutropenia was observed from day 20, when peripheral blood cells showed decreased donor chimerism down to 14.2%. On day 24, STR-PCR of bone marrow cells revealed 100% recipient type, suggesting rejection of the donor graft. Favorably, however, the multilineage cytopenia was gradually improved, and single CDR-III signal was never detected after the transplant. On day 62, WBC was 34 × 109/L with 42.7% neutrophils and 41.8% lymphocytes. Hemoglobin was 10.2 g/dl, and the platelet number was 146 × 109/L. These observations suggested that autologous bone marrow recover with remission of CLL. No apparent acute GVHD was observed. Leukemic cells were never detected in the bone marrow or peripheral blood in flow cytometry even 10 years after the transplant. There were no chronic GVHD-like symptoms or signs. Cytogenetic studies were repeated 15 times over 10 years for the screening purpose to detect emergence of clonal cells. In total, 299 metaphase cells were analyzed, and abnormalities were found in 50 cells (16.7%, ). Abnormalities in 7q22 were found in four cells at 3 independent studies performed at 53 through 61 months after the transplant. However, the 7q22 abnormalities were detected only temporarily and were never found thereafter until 136 months after the transplant. All the other abnormalities were seen only one time. All this agrees with the concept of random chromosomal abnormalities (RCA) seen in automarrow recovery after receiving high-dose ionizing radiation exposure []. Despite the careful follow-up, the patient has been evaluated not to develop any clonal disorders such as myelodysplastic syndromes (MDS). Her blood cell counts and lymphocytes number were within the normal range at the last visit (140 months after the transplant), and there was no dysplastic changes in peripheral blood and bone marrow cells.
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pmc-6335665-1
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The patient is a 76-year-old woman with a two-year history of left elbow pain empirically diagnosed as gout. When her symptoms failed to improve with appropriate management, radiographs were obtained, demonstrating a lesion in the proximal radius () characterized as a mildly expansile lucent lesion with a thin zone of transition but no sclerotic rim. Internal osseous septations were present and there was cortical thinning but no visible cortical breakthrough, periosteal reaction, calcified matrix, or soft tissue mass. The initial differential diagnosis included metastasis, multiple myeloma, and other less common entities such as a primary sarcoma of bone or atypical infectious process. She was referred to our tertiary care hospital to consult with an oncologic orthopedic surgeon. Further history obtained at that clinic visit elicited that 3 years previously she had incidentally discovered lytic lesions in her skull and left clavicle that were evaluated in another medical system. Biopsy of both lesions performed at that time was inconclusive showing a mix of inflammatory and fibrous cells per report. The pathologic specimens were not available for further review. Physical exam at her clinical visit was unremarkable with no palpable lymphadenopathy and no visible abnormality at the symptomatic left elbow. SPEP and UPEP tests were negative.
Her initial imaging work-up included CT of the chest, abdomen, and pelvis; contrast-enhanced MRI of the left forearm; and nuclear medicine bone scan. Her CT scan showed no findings of primary malignancy and—pertinent to her eventual diagnosis—showed no lymphadenopathy or vital organ abnormality. Bone scan demonstrated marked radiotracer uptake at the site of the lytic lesion in the proximal left radius as well as at the previously biopsied skull and left clavicle lesions (). The MR scan of the left forearm showed a marrow replacing lesion within the proximal diaphysis of the radius (). The lesion was T1 isointense, T2 hyperintense and demonstrated avid enhancement. Cortical thinning and small areas of cortical breakthrough not visible on the radiographs were apparent on the MRI. No associated soft tissue mass or perilesional edema was present.
At the request of the orthopedic oncologist, a fluoroscopy-guided percutaneous biopsy was performed by Musculoskeletal Interventional Radiology. This rendered only tiny fragments of tissue that were nondiagnostic at histologic review. The patient then underwent open biopsy and curettage of the lesion with Orthopedic Surgery for both diagnostic and treatment purposes. Lesion histology demonstrated features diagnostic of RDD including emperipolesis (engulfment of intact lymphocytes contained with the cytoplasm of histiocyte cells) and positive S100 immunohistochemical staining (). At her follow-up clinic visit 8 weeks after surgery, the patient reported resolution of her left elbow pain, and repeat radiographs demonstrated partial filling in of the lesion with healing bone (). She was discharged from clinic and instructed to follow up if she developed recurrent left elbow symptoms or similar symptoms at a new site. One year later, she has not sought further care at our institution.
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pmc-6335665-2
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The patient is an otherwise healthy 20-year-old incarcerated man who presented with a 1-year history of intermittent left wrist pain. Left wrist radiographs obtained as part of his initial evaluation () demonstrated a mildly expansile mixed lucent and sclerotic lesion in the distal left radius with multiple internal septations. The zone of transition was less well defined than in case 1 and a greater degree of cortical thinning was evident. He was referred to our facility for further evaluation. Similar to patient 1, physical exam at his clinical visit was unremarkable with no abnormality of the left wrist and no palpable lymphadenopathy. The clinical history did not reveal any additional symptoms beyond his intermittent left wrist pain. Review of a noncontrast MRI of the left wrist from an outside institution () demonstrated a multilobular, septated marrow replacing lesion in the distal radial metaphysis and epiphysis with more heterogenous signal characteristics than seen in case 1. Again, no soft tissue mass or perilesional edema was present
The patient was taken directly to open biopsy, curettage, and bone grafting with Orthopedic Surgery. Intraoperative frozen sections demonstrated an inflammatory proliferation with final diagnosis deferred to permanents. Final histologic analysis showed the same characteristic features of osseous RDD described in case 1. One month of follow-up after surgery, the patient has had relief from his wrist pain and will be followed up expectantly.
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pmc-6335676-1
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A 30-year-old Caucasian male with history of schizoaffective disorder and HIV reported an episode of painful penile erection after he took a single dose of sertraline 50 mg. As reported by patient, he did not seek any medical attention and it subsided on its own within 5-6 hours. He was also taking trazodone 50 mg, bupropion 450 mg, and aripiprazole 10 mg for the past few years. He denied any previous episode of painful or painless penile erection. During the previous visit, sertraline 50 mg was added to target his depressive symptoms. After this episode of priapism, patient stopped taking sertraline and it did not happen again. His HIV medications include dolutegravir (Tivicay) 50 mg daily and emtricitabine/tenofovir disoproxil (Truvada) 200/300mg. He was very distressed and embarrassed with this episode of priapism. He denies any substance abuse or other medical problems. He denies suicidal or homicidal thoughts. His labs were checked and were unremarkable. His CD4 count was 514. He did not have any risk factors like sickle cell disease, oncological malignancy, blood dyscrasias, penile trauma, pelvic injury, or prior episode of priapism.
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pmc-6335686-1
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A 6-year-old Asian girl presented with short, sparse hair over the scalp noticed since birth (). The hair never grew longer than the current length. There were no similar complaints in the family members. Examination revealed tightly coiled and curled light colored hairs thinly distributed over the scalp. Skin, palms, soles, nails, and teeth showed no abnormalities. There were no signs and symptoms suggestive of cardiac abnormalities or any other systemic involvement. Based on these findings, a diagnosis of woolly hair was made. Hematological and biochemical investigations were within normal limits.
Trichoscopy was performed using Firefly DE300 Polarizing Handheld USB Digital Dermoscope (Firefly Global, MA, USA) and photographs were captured by MacBook Pro 2013. Trichoscopy revealed “crawling snake” appearance, with short wave cycles () and trichoptilosis (). Trichoscopy guided plucking of hair was done and a single strand was examined, which revealed kinking of the hair shaft and variation in shaft diameter (). After a complete workup, genetic counseling was done to the mother of the patient.
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pmc-6335709-1
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A 47-year-old female came to our hospital with a 20-day history of gingival bleeding and skin ecchymosis in September, 2014. Complete blood count showed leukocyte count 2,187,000/mm3, hemoglobin 8.6 g/dL, and platelet count 54,000/mm3. A bone marrow aspiration revealed 30% myeloblast. Chromosome analysis revealed 11q23 abnormality. An MLL-AF6 fusion transcript was detected by a reverse transcriptase polymerase chain reaction (RT-PCR). A diagnosis of acute myelogenous leukemia with 11q23/MLL translocations (high risk) was made. She entered remission after induction chemotherapy with idarubicin and cytarabine. She subsequently received two courses consolidation therapy with high dose cytarabine and one course of consolidation therapy with mitoxantrone and cytarabine. Then she underwent HLA-identical sibling HSCT in January, 2015. Conditioning include cytarabing, busulfan, semustine and cyclophosphamide. Graft-versus-host (GVHD) prophylaxis consisted of cyclosporine, methotrexate, and mycophenolate mofetil. Immunosuppression was tapered and then discontinued on September 17, 2015. She achieved trilineage engraftment and leukemia-free survival.
From onset to pretransplantation, monthly monitoring of HBV-related serum markersall showed that anti-HBs and anti-HBc were positive, HBsAg was negative, serum HBV DNA was undetectable, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were normal (below 40 IU/L). Her donor serology showed no previous HBV infection (HbsAg, anti-HBc and anti-HBs negative). The patient received entecavir at a dose of 0.5 mg once daily to prevent HBV reactivation and discontinued simultaneously with the cessation of immunosuppression in September 2015. In December 2015, laboratory tests showed serum transaminase levels were increased (AST 146 IU/L, ALT 163 IU/L), serum anti-HBs and anti-HBc turned negative, HBsAg was still negative and the HBV DNA titer was undetectable, and her renal function was normal. Liver chronic GVHD was considered and methylprednisolone was administered(8 mg/d for 10 days then 4 mg/d for a month). Then her serum transaminase levels returned to normal. She was then discharged from the hospital and told to monitor HBV-related serum markers and liver function monthly. But she did not have follow-up examinations in our out-patient clinic.
In May 2016, she presented to our hospital with moderate edema of both lower limbs and foamy urine for half a month. Her renal function was impaired (creatinine, 112umol/L), and NS was confirmed by low serum albumin (19.0 g/L), high cholesterol (10.21 mmol/L), and proteinuria (11.3 g/day). Detection of HBV-related serum markers showed that HBsAg and HBeAg turned positive, and the quantity of HBV DNAwas 1.7 × 108 IU/ml. ALT and AST were still normal. Her liver and kidneys appeared normal on ultrasound examination. Two kidney biopsies containing 34 glomeruli were analysed morphometrically. Light microscopy revealed 4 glomeruli (11.7%) were completely collapsed; the rest mesangial areas were slightly to moderately widened, with glomerular mesangial cells proliferation and extracellular matrix accumulation; chronic tubulointerstitial damages existed, including focal tubular atrophy, tubular epithelial brush-border loss, focal interstitial fibrosis and monocytes infiltration; the capillary loops were open and there was no thickening of the glomerular basement membrane(Fig. ). Immunofluorescence revealed deposits in segmental glomerular capillary loops and mesangial area; sample fluorescence distribution: IgA+; IgM+; C1q+, IgG-, C3-, HBsAg-, HBcAg-. Kidney pathology was consistent with mesangial proliferative glomerulonephritis.
She was immediately administered entecavirat a dose of 0.5 mg once daily to repress the replication of HBV DNA and valsartan at a dose of 800 mg once daily to reduce urinary protein. Two months later, the level of HBV DNA decreased to 2.4 × 104 IU/ml. However, her renal function was still aggravated. The level of serum albumin was 16.5 g/L and creatinine was 125 umol/L. Then immunosuppressive therapy was started to treat kidney disease. Mycophenolate mofetil at a dose of 500 mg/12 h and prednisone at a dose of 20 mg/d were initiated and then gradually reduced. Her renal function was gradually improved. In April 2017, her serum albumin was 42.2 g/L and serum creatinine was 84 umol/L. But her urine albumin creatinine ratio was 844.13 mg/g and the quantity of HBV DNA was 9.5 × 102 copies IU/ml, which meant she still had clinical albuminuria and persistent HBV replication. In July 2018, she was given mycophenolate mofetil at a dose of 500 mg/d and prednisone at a dose of 8 mg/d, and her urine albumin creatinine ratio declined to 48.57 mg/g. She continued to be treated with immunosuppressive therapy and antiviral therapy.
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pmc-6335722-1
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A 60-year-old woman suffered from left gluteal, thigh, and calf pain along the L5 dermatome for two months. Manual muscle test for the left great-toe dorsiflexion and the ankle dorsiflexion showed grades III and IV, respectively. She also suffered from neurogenic intermittent claudication symptom (50 m). Magnetic resonance (MR) images demonstrated disc extrusion and downmigrated disc herniation combined with spinal canal and lateral recess stenosis at L4–5 level (). Although she underwent a steroid epidural injection with medications, the pain did not improve. Foraminoplastic percutaneous endoscopic lumbar discectomy (PELD) using reamers was performed in the prone position under local anesthesia []. The patient communicated with the surgeon during the entire procedure. The blue stained inferior migrated ruptured disc was seen beyond the partially resected superior articular process (SAP) (). The herniated disc and fibrotic scar tissues were released and removed using endoscopic forceps and radiofrequency. The ventral portion of decompressed traversing root was confirmed. Additional removal of SAP was performed. Part of the L5 upper end plate around the lateral recess was drilled out. The ligament flavum was also removed, reaching the spinal canal by an endoscopic punch (Figures and ). This resulted in the whole traversing root being exposed (). After the operation, her visual analogue scale (VAS) scores of the back and leg pain improved from 6 and 8, respectively, to 2 and 1, respectively. Postoperative MR and CT images () showed complete removal of the ruptured disc fragment and decompressed lateral recess area. The patient was discharged on the day after PELD.
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pmc-6335722-2
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A 50-year-old woman visited the clinic because of severe right-leg radiating pain along the L2 and L3 dermatome. She has a history of fusion surgery five years ago. MR images revealed intracanal and extraforaminal multifocal soft disc herniation at the L3-4 level (). Although she underwent nerve-root block at L3 and L4, the pain sustained. PELD with foraminoplasty using reamers was performed. After removal of the herniated disc in the paracentral area (), working cannula was slightly withdrawn and reapproached with a stiff angle in order to confirm compressed exiting root. Another stained ruptured disc fragment was found at the axilla area of exiting root by a gentle circular twisting motion of working cannula (). It was removed by forceps with caution to avoid the exiting root injury by excessive manipulation. Postoperatively, the patient's preoperative leg pain was resolved without complications. Back and leg pain VAS scores decreased from 6 and 7 preoperatively to 3 and 2 postoperatively. MR images showed successful simultaneous removal of paracentral and extraforaminal double disc herniations ().
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pmc-6335722-3
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A 58-year-old woman presented with acute onset left-leg radiating pain. She also had constant right-leg radiating leg pain for one year. Bilateral straight leg raise test was positive. MR images showed L5–S1 bilateral herniated disc (). Despite conservative treatment with physical therapy and interventional pain management, the patient's symptom did not improve. A working cannula was placed on the interlaminar space via a 0.7 mm skin incision under epidural anesthesia. The ligamentum flavum was then split by the probe in the middle part on the ipsilateral side. A working cannula with endoscope was subsequently introduced into the epidural space through the split ligamentum flavum and the dura sac and nerve root were exposed. After gentle retraction of the ipsilateral S1 root, epidural dissection by various endoscopic instruments, a working channel was inserted into the axillary area of S1 root. Sequestrated disk materials located on the ipsilateral side were found and removed with forceps (). The central portion of the annulus and the posterior longitudinal ligament (PLL) located at the center were cleared and identified to expose the contralateral side. Further exposure of contralateral epidural space by retraction of thecal sac was followed. Another protruded disc was identified under thecal sac on the contralateral side (). Probes were moved to the site to remove and puncture organized disc materials. Forceps were used to remove the contralateral ruptured disc. The working cannula was withdrawn and reapproached over the thecal sac to observe the contralateral side. Decompressed contralateral the traversing nerve root was confirmed. Postoperatively, the patient showed no symptoms radiating to the legs. There were no deficits on neurological examination. Postoperative MR images revealed that preoperative herniated discs were successfully removed bilaterally ().
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pmc-6335722-4
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A 77-year-old woman presented with complaints of radicular pain in the right gluteal region and anterolateral aspect of her thigh and leg for three months. She was also suffering from neurogenic claudication symptom. She could not walk more than 50 meters continuously. MR images of the lumbar spine revealed extraforaminal disc combined with central canal stenosis on L4-5 (). A plain radiograph showed a minimal listhesis. The L4-5 segment was stable. The patient was operated under epidural anesthesia in a prone position on a spinal frame. The skin incision was marked lateral to spinous process contralateral to the side of the foramen to be decompressed and directed towards the side of the stenosis. A 12 mm working cannula was placed on the lower margin of L4 ipsilateral spinolamina junction initially and an endoscope was inserted. Laminotomy was performed with high-speed endoscopic drills. Thinned-out lamina was adequately removed with an endoscopic Kerrison rongeur. The base of the spinal process was then removed to obtain a clear view of the contralateral lateral recess and the foramen. The ligamentum flavum was initially preserved to protect the dura. After completion of bony resections, the ligamentum flavum was removed piecemeal starting from the midline. Lateral margin of thecal sac was exposed. Gentle retraction of the contralateral thecal sac from the lateral to medial direction revealed a protruded contralateral side extraforaminal disc which was removed by endoscopic forceps (Figures and ). Afterward, the opposite lateral recess and the foramen were further decompressed by removing the ligamentum flavum, drilling osteophytes, clearing all disc fragments, and undercutting the medial facet. Finally, successfully decompressed contralateral exiting and traversing nerve root was confirmed (). After the operation, her VAS scores of the back and leg pain improved from 5 and 8 preoperatively to 2 and 2, respectively. Postoperative MR images showed complete removal of ruptured extraforaminal disc fragments and decompressed spinal canal ().
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pmc-6335734-1
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A 63-year-old Japanese man with a medical history of diabetes for 7 years, Fahr’s disease for 4 years, and systemic steroid use for bullous pemphigoid for 2 years had been receiving intravitreal injections of ranibizumab in the left eye for 2 years according to a Pro Re Nata regimen (PRN) for macular edema associated with branch retinal vein occlusion. For his diabetes, the patient had been taking an oral anti-diabetic drug, miglitol, 50 mg, 3 times daily. His steroid therapy for bullous pemphigoid had begun with prednisolone at 20 mg/day, had gradually tapered off, and continued at 5 mg/day for the past 6 months. Twenty days after the last injection, the patient presented with a 1-week duration of left eye pain. Upon examination, his best corrected visual acuity (BCVA) was 20/15 in the right eye (OD) and 20/200 in the left eye (OS), and IOP was 19 mmHg OD and 45 mmHg OS. Slit-lamp examination of the left eye revealed mild edema of the central cornea with mild conjunctival injection, intermediate keratic precipitates (KP), mild anterior chamber reaction, and incipient cataract. Coin-shaped lesions, linear KP, and iris atrophy were not present (Fig. ). Dilated funduscopic examination of the left eye showed macular edema with hard retinal exudates secondary to a branch retinal vein occlusion. The patient’s right eye was completely normal. Endothelial cell density was 2719 cells/mm2 OD and 1733 cells/mm2 OS Additional file .
Laboratory tests including blood cell count, leucocytes, C-reactive protein, and angiotensin-converting enzyme were all essentially normal. Serologic tests were negative for syphilis, human immunodeficiency virus, and human T-cell leukemia virus type 1 (HTLV-1). The results of serologic testing for HHV, herpes simplex virus (HSV), varicella zoster virus (VZV), cytomegalovirus (CMV), and Epstein-Barr virus (EBV) were positive. Based on the patient’s ocular manifestations, bacterial or viral infection was suspected. Multiplex strip PCR, which can detect 24 common ocular infectious disease pathogens [], was performed on biopsied aqueous humor. Results showed that genomic DNA of HHV-6 was present. The 23 other pathogens, e.g., HSV type 1 and 2, VZV, EBV, CMV, HHV-7, HHV-8, bacterial 16s ribosomal RNA (rRNA), and fungal 28s rRNA were however not present. The concentration of HHV-6 DNA was 3.72 × 103 copies/mL, and the PCR product was specific for the HHV-6A variant sequence. Anti-HHV-6 IgG antibodies in blood samples were positive (40 times) and anti-HHV-6 IgM antibodies were negative (< 10 times).
These results led us to make the diagnosis of corneal endotheliitis with anterior uveitis related to an HHV-6 infection. We began treating the patient with 900 mg of oral valganciclovir twice daily, as well as topical 1% ganciclovir and 0.1% betamethasone 4 times per day, without discontinuation of systemic steroids. Topical anti-glaucoma agents (1% brinzolamide twice daily and 0.004% travoprost once per day) were also prescribed. Four weeks after the initiation of therapy, the copy number of HHV-6 DNA in the aqueous humor had decreased to 5.80 × 102 copies/mL. Six weeks later, the corneal edema and KPs were completely resolved. Therefore, oral valganciclovir and topical anti-glaucoma agents were discontinued. Topical ganciclovir with topical steroids was continued for 8 more months. The patient’s BCVA improved to 20/80, the same level as before the episode of corneal endotheliitis, and IOP decreased to 18 mmHg OS without anti-glaucoma agents. At the patient’s one-year follow-up examination, endothelial cell density was 2786 cells/mm2 OD and 2545 cells/mm2 OS Additional file , and the eye was essentially normal without recurrences of corneal endotheliitis and anterior uveitis.
This study was approved by the Institutional Ethics Committee, Medical Review Board of Gifu University Graduate School of Medicine, and it adheres to the tenets of the Declaration of Helsinki. Informed consent was obtained from the patient.
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pmc-6335779-1
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Madam A, 45-year-old Malay lady diagnosed T2DM since age 30 years old, however has never been compliance to treatment. Since 2011 she has been suffering from frequent infections occurring at buccal space, left hand and right foot, requiring antibiotics, incision and drainages. Her glucose control was poor with Hba1c ranged around 12% with serum creatinine ranging around 60–70 μmol/l with proteinuria 4+. She was first seen in Nephrology clinic in March 2015 when she presented with bilateral lower limb swelling and deranged renal profile. Her serum creatinine was 120 μmol/l (eGFR 65 mL/min per 1.73m2) that time with low albumin 28 g/L and persistent nephrotic range proteinuria with urine protein-creatinine index (UPCI) at 0.23–0.3 g/mmol. Ophthalmology review noted bilateral moderate non-proliferative diabetic retinopathy. She was treated with basal bolus insulin, diuretic and statin but subsequently defaulted nephrology follow-up. Patient was referred again from the health clinic a year after (March 2016) for similar complain but this time with much worsening renal function. Her creatinine this time was 222 μmol/l and her medications at this time was amlodipine 10 mg daily, hydrochlorothiazide 25 mg daily, subcutaneous (SC) isophane insulin 6 IU BD and simvastatin 40 mg ON. Patient again did not turn up for her subsequent follow up and admitted on trying alternative medicine for her renal impairment. She came again in August 2016 presented with apparent nephrotic syndrome with grossly edematous lower limb with ascites and poorly controlled blood pressure to the emergency department. Her blood investigations showed serum creatinine 612 μmol/l (eGFR 12 mL/min per 1.73m2), UPCI 1.48 g/mmol, urinalysis: blood 1+/ protein 4+/ leukocytes negative (Table ). Urgent renal doppler ultrasound showed normal size kidneys, no evidence of obstructive uropathy or renal vein thrombosis. In view of sudden drop in renal function a renal biopsy was planned and results showed features of advance diabetic nephropathy, modular glomerulosclerosis pattern with 60% global sclerosis and moderate hypertensive vascular changes associated with severe chronic tubulointerstitial damage. There are also features of interstitial nephritis seen. Diabetic nephropathy (Tervaert Class IV) with moderate hypertensive vascular changes and interstitial nephritis (Fig. ). She was counselled on long term renal replacement therapy and she has been dialysis dependant since then.
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pmc-6335779-2
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Madam C, 33-year-old Malay lady, diagnosed with T2DM since 20-year-old and hypertension at the age of 30-year-old. She was previously under health clinic follow up but was not compliance to her medications including oral hypoglycemic agents. Her Hba1c in 2015 was 11.9% and she was started on basal bolus insulin since a year ago. Her medications consisted of SC short acting insulin 26 IU tds, SC isophane insulin 26 IU on, metformin 1 g bd, amlodipine 10 mg daily, perindopril 4 mg daily and hydrochlorothiazide 12.5 mg daily. Her baseline renal function in April 2015 was normal with serum creatinine 95 μmol/l. During follow up, her BP was always in suboptimal range, and urinalysis showed persistent proteinuria 4+ with glucosuria. She was referred to nephrology clinic in august 2016 for rapid decline in renal function and worsening pedal edema. On examination noted she was hypertensive with BP 180/100 mmHg and bilateral lower limb edema up to the thighs.
Her baseline serum creatinine trend was 165 μmol/l with eGFR 54 ml/min in November 2015. This has deteriorated to 366 μmol/l (eGFR 24 mL/min per 1.73m2) in May 2016 and in August 2016 her renal function further deteriorated with serum creatinine of 557 μmol/l (eGFR 16 mL/min per 1.73m2). Urinalysis showed protein 4+/ Blood +/−, Glucose 4+, Leucocytes negative. Her serum was albumin 25 g/L and Hba1c 10.2%, Anti-nuclear antibody was no-reactive, and her urine protein creatinine index was 1.38 g/mmol (Table ). Ultrasound kidneys showed normal kidney sizes with no obstructive uropathy. Ophthalmology review noted bilateral extensive proliferative diabetic retinopathy. She has admitted to have tried traditional medications. She was counselled for renal biopsy in view of sudden drop in renal function and hemodialysis had to be initiated. Renal biopsy showed Diabetic nephropathy (Tervaert Class III) with moderate to severe hypertensive vascular changes and tubulointerstitial nephritis.
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pmc-6335789-1
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A 40-year-old white man presented to an outside emergency department in June 2018 with sudden-onset right calf pain, swelling, and redness. He had a history of juvenile polyposis syndrome, for which he underwent a partial colectomy as a child, and alcohol use disorder (in remission). He received surveillance colonoscopies at recommended intervals due to his history of polyps, the most recent of which had been unremarkable. Upon presentation, a venous ultrasound revealed an acute, occluding thrombus of his right popliteal, tibial, and peroneal veins. There was no preceding history of trauma or immobilization. He was discharged on rivaroxaban 15 mg twice daily and advised to follow-up with his primary care provider.
One week later, he presented again to an outside emergency department with a 3-day history of melena. An initial laboratory workup was significant for hemoglobin of 5.3 and mean corpuscular volume (MCV) of 55.7, for which he received 3 units of transfused red blood cells. Following stabilization and cessation of rivaroxaban, an abdominal computed tomography (CT) scan revealed a mass-like transmural thickening of the gastric antral and pyloric walls with tumor protrusion into the duodenal bulb. Also visualized were multifocal bilateral segmental and subsegmental pulmonary emboli, as well as a non-occlusive thrombus extending from his right renal vein into his suprarenal inferior vena cava (IVC). He underwent placement of an IVC filter. Subsequent upper endoscopy revealed diffusely irregular, raised gastric mucosa across the entire gastric body, with the appearance of a soft carpeted mass (Fig. ). This finding was suggestive of malignancy. A biopsy specimen of the mass showed gastric mucosa with prominent foveolar hyperplasia, focal granulation tissue, ulceration, reactive glandular changes, and evidence of chronic active inflammation (Fig. ). However, despite the suspicious gross appearance, there was no evidence of dysplasia or malignancy. Immunostaining was negative for Helicobacter pylori. Based on these findings, a probable diagnosis of MND was established. He was discharged on high-dose orally administered pantoprazole and scheduled for repeat upper endoscopy in 1 month.
Approximately 3 weeks later, he once again presented to an outside emergency department with the chief complaint of lumbar and suprapubic pain. An abdominal CT scan again showed a non-occlusive thrombus of his right renal vein, which was now noted to extend slightly above the IVC filter. Also visualized were abdominal varices and cavernous transformation of his portal vein suggestive of previous portal vein thrombosis. Upon this finding, he was admitted to our institution as a direct transfer for symptomatic renal vein thrombosis. A low-dose heparin drip was initiated immediately. Following transfusion of 1 unit of packed red blood cells, his hemoglobin remained between 7.2 and 7.6, and he had no ongoing melena. A comprehensive metabolic panel was notable for serum albumin of 2.4. A serum gastrin level was also elevated to 244 (upper limit of normal, 150). During his admission, he developed painful bilateral lower extremity and scrotal edema, which was managed non-pharmacologically. An urgent repeat upper endoscopy was recommended, but he declined this procedure due to concerns about the risks of endoscopic mass removal. Further intervention was deferred to his primary gastroenterologist, although treatment with cetuximab was discussed as an eventual option. He was bridged to orally administered anticoagulation without incident and was discharged on apixaban 5 mg twice daily for an indefinite duration. During a several-hour window when he was not anticoagulated, further laboratory evaluation of his hypercoagulability was performed; the results are shown in Table .
At 1-month follow-up with his primary care physician, he was tolerating apixaban well, with no further gastrointestinal (GI) bleeding. He was adhering to a high-protein diet with subjective and objective improvement in his edema. His hemoglobin improved to 8.8 and his albumin to 3.2. There were no other significant changes in his laboratory results. He continued to decline repeat endoscopy or mass removal. However, he expressed plans to seek care from an out-of-state oncologist and/or gastroenterologist with expertise in treating MND.
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pmc-6335794-1
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A 71-year-old Chinese man presented with urinary hesitancy, dribbling urination, and prolonged urination and was diagnosed as benign prostatic hyperplasia at out-patient one year ago. The serum creatinine was 101 μmol/L (normal range 53~140 μmol/L) at that moment. He was prescribed with epristeride and tamsulosin. Nine months ago, the patient stopped the oral medication because of loss of appetite. The symptoms of urinary hesitancy, dribbling and prolonged urination worsened gradually and therefore he was admitted to our hospital for surgery. On admission, the renal function test revealed a serum creatinine level of 291.0 μmol/L. The post-void residual was normal. The ultrasonic examination revealed that both kidneys were normal in structure and size (left 11.6 cm × 6.3 cm,right 10.7 cm × 4.4 cm). Obstructive nephropathy was thus excluded and the surgery was canceled for renal dysfunction. The patient was transferred to renal division of internal medicine department where additional tests were performed in order to establish the etiology of his documented renal failure. The results of routine peripheral blood test were as follows: hemoglobin 89 g/L (normal range 130~175 g/L), white blood cells 5.21 × 109/L (normal range 3.5~9.55.21 × 109/L), and platelets 204 × 109/L (normal range 100~300 × 109/L). Urinalysis was positive for 1+ protein. Red blood cells and white blood cells were negative in urine sediment microscopic examination. The 24 h urinary protein determination was 0.67 g. Fecal occult blood testing was positive. In addition, the serum creatinine level increased to 415 μmol/L. The immunology tests revealed the following: anti-nuclear antibody + 1:100, rheumatoid factor 149 IU/ml (normal range < 20 IU/ml), IgG 23 g/L (normal range 8~15.5 g/L), serum IgG4 13.9 g/L (normal range 0.035~1.5 g/L), IgE 288.7 IU/ml (normal range 0.1~150 IU/ml), C3 0.4310 g/L (normal range 0.785~1.520 g/L), C4 0.0362 g/L (normal range 0.145~0.360 g/L). The direct Coomb’s test was negative. The anti-neutrophil cytoplasmic antibodies and anti-glomerular basement membrane antibody were both negative. The abdominal ultrasonography revealed multiple solid nodules in the liver. Magnetic resonance imaging (MRI) confirmed multiple liver parenchymal round shaped long T1 and long T2 signal nodules, with a diameter of between 0.6 and 16 cm. The nodules revealed mild enhancement during arterial enhancement phase with some of them showed a decline of enhancement during portal enhancement period. Since the patient has gastrointestinal symptoms in combination with positive fecal occult blood test and moderate anemia, a gastrointestinal endoscopy was performed and It showed a circular cauliflower shaped, ulcerative mass at the middle section of the transverse colon. Biopsies of the mass revealed adenocarcinoma (Fig. ).
For evaluation of renal dysfunction, a renal biopsy was performed. The pathological findings in light microscopy demonstrated glomerular sclerosis in two of twelve glomeruli whereas the other glomeruli demonstrated only mild lesions. The periodic acid-silver metheramine and Masson’s trichrome stainings showed 75% interstitial fibrosis and tubular atrophy in the tubulointerstitial area. In the fibrotic interstitial compartment, collagen fibers exhibited a storiform pattern, with massive lymphocyte and plasma cells infiltration. Immunohistochemical staining showed more than 30 IgG4-positive plasma cells per high-power field (Fig. a-f). Immunofluorescence testing was negative for IgG, IgA, IgM, C3, C4, C1q, κ chain, and λ chains in glomeruli. A diagnosis of IgG4-related tubulointerstitial nephritis (IgG4-TIN) was thus made.
As previously established, both IgG4-related disease and metastasis of gastrointestinal tumor could cause hepatic occupying lesions. In that sense, liver nodules in the current case could be secondary to either IgG4-related tubulointerstitial nephritis or remote metastasis from colon adenocarcinoma. Prednisone of 1 mg/kg daily was initiated with the objective to treat IgG4-TIN. On the one hand, the treatment might improve renal function, the improvement of renal function would then create better conditions for chemotherapy or surgery of adenocarcinoma treatment. On the other hand, the imaging response of hepatic nodules to glucocorticoid administration might suggest whether the nodules were malignancy or IgG4-related pseudo-tumor. One and a half month later, the serum creatinine had decreased from 415 to 246 μmol/L, and the serum IgG4 level dropped from 13.9 g/L to 5.3 g/L. However, the repeat MRI revealed no diminution of hepatic nodules. A liver biopsy was performed and atypical glands were founded in the specimen (Fig. ). Based on the findings of immunohistochemistry of the specimen and clinical data, a diagnosis of adenocarcinoma with hepatic metastasis was made. Chemotherapy was recommended by the Oncology team although impaired renal function was a contraindication. Prednisone was continued to improve kidney function in order to propitiate conditions for chemotherapy administration. Prednisone was gradually tapered and 14 weeks later, the serum creatinine level was 207 μmol/L and the serum IgG4 level was 1.41 g/L (Fig. ). Unfortunately, five months later, the patient’s general condition deteriorated quickly. The patient suffered from anorexia and poor mental state. During the last follow-up, occurring half-year later, the patient experienced shortness of breath but refused to be admitted and died two days later. The last serum creatinine level tested was 176 μmol/L.
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pmc-6335984-1
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A 66-year-old male patient was admitted to our clinic presenting right hemiparesis and dysarthria. His medical history revealed that he had an ischemic stroke eight years previously. His complaints were fully diagnosed after 30 minutes. Cerebral computed tomography (CT) revealed chronic infarction in the right hemisphere. Cranial diffusion magnetic resonance imaging showed acute ischemic focus in the left hemisphere. As a result of these findings, the transient ischemic attack was diagnosed and he underwent selective carotid angiography. Angiography demonstrated 70% focal stenosis of the left internal carotid artery (LICA) (). He then underwent angioplasty of the LICA stenosis. Acetylsalicylic acid (100 mg/d) and clopidogrel (75 mg/d) were administered for seven days before the procedure. A total of 75 U/kg of unfractionated heparin was administered during the procedure and the Activated Clotting Time value was measured as 275 seconds. A distal protection device (EPI Embolic Protection Inc., Boston Scientific Corporation) was inserted using the transfemoral approach. A 6 to 8 × 40 mm closed cell self-expandable stent (Abbott Vascular, Santa Clara, CA) was implanted and post-dilated using a 5.0 × 20 mm balloon (). Three hours later, the patient developed motor aphasia and right hemiplegia. An emergent cerebral CT scan ordered did not reveal any signs of intracerebral hemorrhage. However, we learned from his deepened anamnesis that he had not taken acetylsalicylic acid and clopidogrel from the start, because he had not adhered to his medical therapy. The patient was then urgently transferred to the catheter laboratory where digital subtraction angiography (DSA) and selective carotid angiography revealed acute carotid stent thrombosis (). After the patient was given 300 mg of clopidogrel, 75 U/kg of unfractionated heparin was administered intravenously and selectively set into the carotid using the transfemoral approach. t-PA of 7 mg was slowly pushed into the internal carotid artery using the intraarterial selective approach and partial lysis was observed in the thrombus on DSA imaging performed after medication (). The patient was taken to the coronary intensive care unit and put on tirofiban infusion. Six hours later, subsequent DSA was performed and showed nearly complete recanalization of the LICA (). Cerebral CT ordered after seven days showed a small infarction. He was discharged with left arm weakness on the tenth post-procedure day with clopidogrel 75 mg 1x1 and acetylsalicylic acid 100 mg.
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pmc-6335991-1
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A 22 year old lady, without any co-morbidities, presented with history of multiple episodes of vomiting three days back, reduced urine output for 3 days and shortness of breath since 2 days. On examination, the patient was conscious, oriented and afebrile. She had a blood pressure of 70/50 mm Hg and a pulse rate of 108/min. She was tachypnoeic with an oxygen saturation of 85% on room air. Her neck veins were engorged and she had bilateral pedal edema. Systemic examination revealed bilateral pleural effusion and ascites. On preliminary blood investigations there was evidence of acute kidney injury (AKI) with a serum creatinine of 1.8. Arterial blood gas analysis was suggestive of Type I respiratory failure. Her ECG showed sinus tachycardia and the chest roentgenogram confirmed bilateral pleural effusion. The patient was resuscitated with intravenous (IV) fluid bolus, oxygen inhalation and dual inotropes (noradrenaline and dopamine). The shock remained unresponsive even after 24 hrs of admission therefore inotropes were stepped up and empirical antibiotics were added. The diagnostic pleural tap revealed a transudative picture. Blood culture and urine culture were sterile and serum pro-calcitonin level was normal. At this stage the family was questioned again and it was revealed that the patient had attempted suicide due to poor academic performance by consuming 900 mg of amlodipine (90 tablets of 10 mg each). The targeted management was started with IV calcium gluconate infusion at 1 g/h, 50% dextrose IV bolus followed by regular insulin 1 U/kg bolus and then regular insulin at 0.5 U/kg/h with IV dextrose 25 g/h. The patient showed dramatic symptomatic improvement. Inotropes were tapered and stopped within 4 hours. Renal function improved with restoration of adequate urine output within 24 hours. The patient was discharged 3 days later with stable vitals and was advised to follow-up in psychiatry OPD.
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pmc-6336208-1
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A 45-year-old, gravida zero para zero, female presented with a one-week history of a fluctuant mass and erythema in the right superior breast. She had a history of seat belt injury to the right breast seven years prior, and had felt stable masses in the breast for two years prior to presentation. After admission to the hospital, intravenous antibiotic therapy was initiated for symptoms of infection. No family history of breast cancer was noted at that time. The work-up for presumed mastitis began with a bilateral diagnostic mammogram. The provided patient history included a possible diagnosis of cellulitis with imaging to rule out an abscess of the right breast. The ordering physician also emphasized the history of seat belt injury. The admission diagnostic mammogram revealed heterogeneously dense breasts, as well as the presence of fat necrosis in the upper outer quadrant of the right breast at the 12 o’clock position (Figure ).
No significant masses, calcifications, or abnormalities were noted in the left breast at that time. Ultrasound of the right breast demonstrated edema with no evidence of malignancy. The patient was diagnosed with cellulitis of the right breast and discharged with antibiotics.
Two weeks later, the same patient returned with exacerbated erythema, hardness, and tenderness in the right breast. In addition, she also noted a new lump in her left breast which she had not noticed before and mentioned this for the first time to the radiologist while ultrasound is being performed on the right side. The right breast showed redness, induration, and tenderness in the upper outer quadrant. Subsequent diagnostic ultrasound of the left breast revealed an irregularly shaped hypoechoic mass with microlobulated margins. The mass measured 21 x 18 x 14 mm and was located at the 3 o’clock position, 3 cm from the nipple (Figure ).
Ultrasonography of the right breast revealed only fat necrosis and edema consistent with the patient history. Overall, the imaging was given a BI-RADS assessment of 4C, which is a moderate concern for malignancy.
Ultrasound-guided biopsy of the left breast revealed invasive ductal carcinoma, a moderately differentiated nature, and a grade of two with components of ductal carcinoma in situ. Follow-up mammography was performed, showing proper placement of a marker in the clinically observable mass (Figure ).
The patient's care was transferred to an outside facility following a definitive diagnosis. The patient ultimately received bilateral mastectomies with sentinel lymph node dissections and adjunctive chemotherapy.
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pmc-6336209-1
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This case report will focus on an 80-year-old female with a history of multiple transient ischemic attacks, cerebral arteriovenous malformation, and deteriorating vision with complete loss of vision in the left eye. She presented to the emergency room with a chief complaint of seeing vivid organisms with tentacles in her food and stool. The patient was well-kept, organized, alert, and oriented to person, place, time, and situation. She provided a very detailed history, stating that the vivid hallucinations started eight weeks ago. She would see them in her eggs when she ate breakfast and when she drank water or juice. She had seen the hallucinations in her stool as well. The patient meticulously collected samples of her food and stool in containers and brought them to an urgent care center for evaluation. From the urgent care center, she was sent directly to the emergency room. During her admission, the patient stated she understands and is fully aware of the fact that the tentacles are visual hallucinations. Her symptoms have been a significant source of worsening stress and anxiety over the past few weeks. Her vitals, labs, blood, and urine cultures were all normal. Her urine toxicology screen was negative. A computed tomography (CT) scan of the head showed no acute intracranial findings and magnetic resonance imaging (MRI) of the brain was negative for any acute changes, as seen in Figure .
Psychiatry was consulted, and our team determined that her insight was fully intact. Her symptoms could not be attributed to an acute psychotic episode. We then began to discuss the possibility of Charles Bonnet Syndrome and Anton-Babinski Syndrome as potential differential diagnoses. Charles Bonnet Syndrome was confirmed because the patient fit all the relevant diagnostic criteria. This included significant visual impairment, persistent visual hallucinations, fully intact insight, no evidence of acute psychosis, no evidence of stroke or hemorrhage, and no other senses other than her vision were affected. Anton-Babinski Syndrome was ruled out because this patient did not have a recent stroke or trauma to the head and there were no definitive confabulations with denial of vision loss. Once the diagnosis was made, the patient and her family were educated on the benign nature of her visual hallucinations. Supportive care was provided and the patient was discharged home.
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pmc-6336210-1
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A 77-year-old gentleman presented with a painless left breast lump of six months duration. The lesion was subcutaneous and skin was intact without any colour change. The patient underwent a mammogram (Figure ) and an ultrasound (Figure ), which revealed an irregular soft tissue mass at the 12-o’clock position, measuring 2.4 x 1.4 cm (T2). There was no calcification but an increased vascularity was noted. No lymph node was palpable or detected by imaging. Subsequently, the patient underwent a core biopsy that revealed sheets of poorly differentiated malignant small blue cells at a high mitotic rate, focally demonstrating rhabdoid-type features. AE1/AE3, neuron-specific enolase, and cytokeratin 20 (CK20) showed typical strong cytoplasmic dot positivity (Figure ). Neuroendocrine markers (synaptophysin and neural cell adhesion molecule (CD56)) and B-cell lymphoma 2 (BCL-2) were also positive, as was cytoplasmic positivity for beta-catenin (Figure ). S100, cytokeratin 5 (CK5), thyroid transcription factor 1 (TTF1), napsin A, GATA3, estrogen receptors (ER), progesterone receptors (PR), and human epidermal growth factor receptor-2 (HER-2)/neu protein were all negative. The immunohistochemical profile and pattern of cytokeratin staining were most in keeping with MCC. Retrospective pathological workup showed the MCC tumor was negative for polyomavirus, and a small amount of tumor infiltrating lymphocytes (TILs) was noted with a cluster of differentiation 3 (CD3) immunoassay. An 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18FDG PET/CT) performed two weeks after biopsy did not show any FDG-avid lesion, except for a nonspecific uptake in multiple mediastinal lymph nodes. The tumor was staged as IIA (T2N0). His scheduled lumpectomy and sentinel lymph node biopsy were canceled since the PET imaging was negative and there was no mass felt on clinical evaluation. A follow-up CT at three months was also normal without any abnormality at the site of the lump. 18FDG PET/CT repeated at nine months showed hypermetabolic activity in multiple lymph node regions and in the spleen. The findings were considered as reactive as opposed to metastatic disease since biopsy of the supraclavicular node demonstrated reactive changes only. The patient is on continued follow-up up to three years to rule out local recurrence or metastatic disease in the future.
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pmc-6336600-1
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A 28-year-old woman, 2 months postpartum, with a 9-month history of nephritic syndrome was referred to our hospital for evaluation of persistent hematuria and proteinuria in July 2007. She was a carrier of HBV, and virological tests revealed that her serum was HBsAg positive, HBs antibody negative, HBe antigen (HBeAg) negative, and HBe antibody positive (HBeAg seroconversion). She had developed nephrotic syndrome with urine protein 3+, urine occult blood 2+, and hypertension in the second month of pregnancy (October 2006). During late pregnancy, her urinary protein excretion was 3 to 10 g/d, resulting in worsening lower leg edema. After giving birth, her hypertension and bilateral leg edema resolved, but urine protein excretion persisted.
At the time she visited our hospital, laboratory findings were as follows: proteinuria (urinary protein: 8.1 g/gCr), microscopic hematuria (urinary occult blood: 3+, 30 to 49 urinary sediment red blood cells per high-power field [HPF]), and hypoproteinemia (serum total protein: 5.3 g/dL; serum albumin: 2.7 g/dL) (Fig. , Table ). She weighed 40.1 kg, with a height of 155.6 cm; her body mass index was 16.6 kg/m2. No history of rash, dysuria, jaundice, photosensitivity, joint pains, or previous blood transfusions was reported. On physical examination, her temperature was 36.5 °C; pulse rate, 68/min; respiratory rate, 16/min; and blood pressure, 125/85 mmHg. Other examinations were unremarkable. Her renal and abdominal ultrasound examinations were normal. Laboratory analyses on the first visit showed the following: hemoglobin, 11.0 g/dL; white blood cells, 6300/mm3; platelets, 345,000/mm3; prothrombin time (INR), 0.79; blood urea nitrogen, 17 mg/dL; serum creatinine, 0.6 mg/dL; sodium, 140 mEq/L; potassium, 3.9 mEq/L; total bilirubin, 0.3 mg/dL; alkaline phosphatase, 135 IU/L; γ-glutamyl transferase, 10 IU/L; aspartate aminotransferase, 26 IU/L; alanine aminotransferase (ALT), 25 IU/L; total protein, 5.3 g/dL; albumin, 2.7 g/dL; total cholesterol, 456 mg/dL; and C-reactive protein, 0.06 mg/dL. Urinalysis revealed that urinary protein excretion was 8.1 g/gCr and urinary red blood cell count was 30 to 49 per HPF. Immunological studies showed that immunoglobulin (Ig) G was 720 mg/dL (normal, 607–1879); IgA, 243 mg/dL (normal, 62–370); IgM, 322 mg/dL (normal, 43–300); C3c, 117.5 mg/dL (normal, 45–102); C4, 22.3 mg/dL (normal, 10–40); and CH, 50 46.2 IU/mL (normal, 30–45). Rheumatoid factor (30.8 IU/mL) and antinuclear antibodies (×80) were both present. Antineutrophil cytoplasmic antibodies and cryoglobulin were not detectable. Based on the hepatitis serologic testing, the patient tested positive for HBsAg, HBeAb, and HBcAb and negative for HBsAb and HBeAg. The serum titer of HBV DNA increased to 7.5 LGE/mL. Tests for hepatitis A virus, hepatitis C virus, and human immunodeficiency virus antibodies showed negative results. The serum level of HBsAg was 16,485 IU/mL and the HBV genotype was type C. She was breastfeeding and her renal impairment could have been secondary to pregnancy; therefore, we observed her after childbirth without providing any treatment. However, spontaneous remission after childbirth was not achieved, and urine protein levels persisted at 1 to 3 g/d. Approximately 10 months after childbirth, elevations in the serum levels of liver enzyme (ALT, 83 IU/L), HBV DNA (7.5 LGE/mL), and urinary protein excretion (2.9 g/gCr) were observed; therefore, a renal biopsy and liver biopsy were performed to decide the treatment strategy.
The first renal biopsy that was performed in March 2008 revealed large renal corpuscles, glomerular hypertrophy and MPGN (Fig. A), which was accompanied by focal deposits of HBsAg in the glomerular capillary wall (Fig. , bottom left A). The patient was diagnosed with hepatitis B-related MPGN (HBV-MPGN). The glomeruli had diffuse hypercellularity with a moderate increase in mesangial cells. The glomerular capillary loops were diffusely thickened and double contours were seen on silver staining. On immunofluorescence examination, C1q was not detected, and IgM, IgA, and C4d were detected along the capillary loops in a granular pattern. IgG and C3c were also present but to a lesser extent (Fig. ). No C1q was observed in the glomeruli. On immunostaining, the deposition of HBsAg and the corresponding immune complexes in the glomeruli were observed (Fig. , bottom side A); HBcAg was not detected. Immunohistochemical staining with Papanicolaou staining showed mild-to-moderate glomerular C5b-9 expression along the glomerular capillary loops (Fig. A). On electron microscopy, the glomeruli demonstrated mild foot process fusion of the epithelial cells. The capillary loops were thickened with small and large electron-dense deposits on the subepithelial (1+), intramembranous (2+), and subendothelial sides (3+) of the basement membrane, which was compatible with MPGN type III (Fig. A). Mesangial interposition was frequently observed with a marked degree of mesangial proliferation (3+). A subsequent liver biopsy demonstrated portal inflammation and changes consistent with mild chronic hepatitis (A1, F0) (Fig. ).
After liver biopsy, she was started on entecavir at a dose of 0.5 mg once daily in March 2008. Serum HBV DNA became undetectable after 1 month of entecavir treatment; subsequently, the ALT levels normalized within 3 months of entecavir treatment. However, regarding the kidney injury, urine protein excretion did not decrease to <2 g/d. In October 2008 (7 months after entecavir was started), her urinary protein increased to 3 g/d despite showing negative results for HBV DNA. Since no studies at the time had reported on entecavir treatment for HBV-MPGN, we decided to confirm the therapeutic effects with a repeat renal biopsy.
The second renal biopsy was performed 7 months after entecavir treatment; at the time, her laboratory data were as follows: serum ALT (14 IU/L), HBV DNA (<3.7 LGE/mL), and urinary protein excretion (3.4 g/gCr). Light microscopy showed large renal corpuscles, glomerular hypertrophy, and MPGN accompanied by periodic acid–Schiff (PAS)-positive deposits (Fig. B). Thickening and double contour of the glomerular capillary walls persisted with a moderate increase in mesangial matrix and mild mesangial hypercellularity. As the active lesions of the glomeruli persisted in the second renal biopsy, prednisolone (PSL) was started at an initial dose of 30 mg/d. After starting PSL treatment, proteinuria improved to 0.1 g/gCr within 3 months and serum albumin remained normal thereafter (Table , Fig. ).
The third renal biopsy was performed 7 months after PSL treatment (5 mg/d of PSL) to evaluate the efficacy; at the time, her laboratory data included serum ALT of 11 IU/L; HBV DNA, <3.7 LGE/mL; and urinary protein excretion, 0.3 g/gCr. The third renal biopsy showed remarkable decrease in the activity of HBV-MPGN with a significant decrease in mesangial proliferation and immune complex deposition compared with previous biopsies (Figs. –). On light microscopy, no obvious PAS-positive deposits and no mesangial hypercellularity were observed (Fig. C). Immunofluorescence microscopy showed resolution of the deposition of IgM and IgA in the glomeruli (Fig. , top right, and top middle). Immunohistochemical staining with Papanicolaou staining revealed resolution of C5b-9 deposition in the glomeruli (Fig. B). On electron microscopy, deposition of electron-dense deposits decreased in the capillary loops, especially in the subendothelial region. It was compatible with inactive MPGN type III, which showed electron lucent-dense deposits (Fig. B). Reactivation of HBV was not observed during the PSL treatment, and PSL was discontinued after 10 months.
Although her daily urine protein excretion increased to 0.7 to 0.9 g/d at follow-up, once the PSL treatment was discontinued, protein excretion did not increase to >1 g/d. Entecavir was discontinued after 30 months of therapy. Currently, she is regularly followed-up in the clinic without any treatment and remains free of edema, with normal renal function and serum levels of ALT, albumin, and cholesterol. She also remains HBsAg-positive and HBeAg-negative. The serum levels of HBsAg gradually decreased without antiviral therapy to 2482 IU/mL at the last visit in 2017. Although HBV DNA in her serum was detected again in 2011 (3.3 Log copies/mL, TaqMan), her urine protein was maintained at <1 g/d for >8 years (Table , Fig. ).
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