_id stringlengths 7 16 | description stringlengths 55 95.2k |
|---|---|
pmc-6480983-1 | A 54-year-old transgender African American female with a history of bilateral breast augmentation presented to our clinic with a long history of right breast discomfort. She began hormonal therapy in 1987, and socially transitioned from male to female in 1990. In 2000, she underwent breast augmentation surgery, receiving bilateral silicone implants. In 2009, she developed pruritus and hyperpigmentation of the skin overlying her right breast but did not seek medical care. Several years later, she noticed an enlarging mass in her right breast. After acquiring health insurance, she presented to her primary care physician in December 2017 to discuss further care.
Physical examination at that time revealed a 1.5 cm nontender, fixed right breast mass with overlying hyperpigmented skin. Mammogram and right breast ultrasound in January 2018 showed a suspicious breast mass encasing the right implant at 4:30, 7 cm from the nipple (Breast Imaging Reporting and Data System [BIRADS]-4). Ultrasound-guided right breast biopsy revealed atypical T-cells positive for CD30, EMA, and CD2, and negative for CD3, CD43, CD20, and PAX5. The findings were consistent with BIA-ALCL. Biopsy of the hyperpigmented area was benign, consistent with seborrheic keratosis.
An initial positron emission tomography/computed tomography scan (PET/CT; ) demonstrated 4 abnormal hypermetabolic soft tissue densities surrounding the right breast implant (SUV [standardized uptake value] maximum 4.8) and a 1.3 × 0.5 cm hypermetabolic enlarged right axillary lymph node (SUV maximum 3.2). Though core needle biopsy of the right axillary lymph node was insufficient for diagnosis, she was presumed to have Ann Arbor Stage IIE, TNM Stage III BIA-ALCL.
The patient subsequently underwent bilateral breast implant removal, capsulectomy, and sentinel lymph node biopsy. Surgical pathology revealed BIA-ALCL inside and outside of the right breast capsule, 2/2 right sentinel axillary lymph nodes positive for BIA-ALCL, and benign skin of the left and right breast. The patient was then presented to the multi-disciplinary tumor board at our institution, which recommended that she receive adjuvant chemotherapy and/or radiotherapy.
The patient received 4 cycles of cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) before undergoing repeat PET/CT, which showed a favorable response to treatment as evidenced by an interval decrease in the FDG (fluorodeoxyglucose)-avid soft tissue foci in the right breast (SUV maximum 2.4) and no hypermetabolic lymphadenopathy. She then received 2 more cycles of CHOP. Post-chemotherapy PET/CT () showed FDG-avidity in the right axilla (SUV maximum 2.4) and right chest (SUV maximum 2.1).
Following chemotherapy, the patient went on to receive adjuvant radiation therapy. She received 3000 cGy over 15 fractions to the right chest, right axilla, and right supraclavicular lymph nodes, followed by a cone down consisting of 600 cGy in 3 fractions delivered to the right axilla (). Her treatment was delivered utilizing 3-dimensional conformal technique. She tolerated the treatment well without any difficulties. |
pmc-6480984-1 | A 75-year-old white woman with history of hypertension and endometrial cancer was admitted for radical hysterectomy and hernia repair. Her intraoperative course was uneventful, but on postoperative day 2, she developed acute onset of right-sided weakness and was subsequently diagnosed with a stroke. There was no intracranial bleed on non-contrasted computed tomography imaging, but due to her recent surgery, she did not qualify for thrombolytic therapy and further neurologic workup was initiated. Magnetic resonance imaging of the brain showed multiple areas of restricted diffusion in the occipital and temporal lobes suggestive of acute embolic events.
During diagnostic workup to determine the embolic source, a transesophageal echocardiogram revealed no intracardiac thrombus but a 1.2 cm × 0.9 cm echo-density arising from the sinotubular junction of the ascending aorta was discovered. This lesion was in proximity to the left main coronary artery (). Long- and short-axis views showed punctate calcifications within the stalk of the lesion and displayed an “anemone”-like appearance. Electrocardiographically, she was found to be in sinus rhythm with no evidence of arrhythmias.
Subsequently, a cardiac magnetic resonance imaging was performed for better tissue characterization. T2-weighted images confirmed the presence of a mass at the sinotubular junction, and a prior non-gated computed tomography scan of the chest showed a similar finding. A multidisciplinary team discussion with the patient and her family was held, and it was determined that she was at high risk for curative surgical resection due to multiple comorbidities. Therefore, pathological evaluation of this lesion was not possible. However, given the various imaging modalities used with concordant findings, a general consensus was reached that this lesion was most likely a PFE arising from the sinotubular junction. The patient was subsequently discharged to inpatient rehabilitation on anticoagulation and was unfortunately lost to follow-up. |
pmc-6480988-1 | We present a case of a 78-year-old male with extensive cardiac history, including paroxysmal atrial fibrillation, essential hypertension, chronical renal dysfunction (III-IV, conservative therapy), stenosis of the right external carotid artery, and stenting of the right coronary artery. The patient underwent cardiac surgery including aortic valve replacement (Medtronic Hancock II, 23 mm) and coronary artery bypass grafting (LIMA-LAD, LIMA-PLA T-Graft) 1½ years prior this presentation.
He was admitted to the hospital with a 5-day history of exertional dyspnea NYHA III (New York Heart Association Class III) and expectoration. On admission, he had a tympanic temperature of 38.5°C, a heart rate of 71 beats/min, blood pressure of 148/68 mm Hg, and oxygen saturation of 97% of room air. During his physical examination, there was an aortic systolic murmur (4/6) on auscultation. His medications included mucolytic, aspirin, β-blocker, statin, diuretic, pantoprazole, and rivaroxaban. He was admitted for progressive heart failure with a fever of 38.5°C and chills.
Admission laboratory results were significant for a white blood cell count of 20.1 × 109/L, a C-reactive protein level of 209 mg/L, and an interleukin-6 level of 24.93 pg/mL (<6.4 pg/mL). Four blood cultures were drawn, and it was then started to treat the patient with empirical antibiotics (vancomycin, gentamicin, and rifampicin) due to concern for prosthetic valve IE.
Three out of 4 blood cultures were positive for gram-positive chain cocci, and 4 more blood cultures were drawn. After 48 hours, L garvieae had grown in all 3 positive blood cultures. L garvieae was also found in the repeated blood cultures ().
Lactococcus garvieae was susceptible to ampicillin, vancomycin, cefotaxime, ceftriaxone, penicillin, and gentamicin (high level). It was resistant to clindamycin, which has previously been described in other cases. Empiric antibiotic treatment was completed for 6 weeks with 4 million units of penicillin given every 4 hours. During the first 2 weeks, gentamicin was also given, initially 320 mg given every 24 hours, then later reduced to 240 mg every 24 hours.
A transesophageal ultrasound (TEE) was performed and we obtained the results described below. Left atrial appendage without detection of thrombotic material with good flow velocity (>0.5 m/s). Atrial septum without detection of atrial septal defect or patent foramen ovale. Aortic valve replacement (Hancock II, 23 mm) morphologically with degenerative stenosis (Vmax 5.42 m/s, Pmax 117 mm Hg, and Pmean 71 mm Hg) and visually impaired pocket valve separation (AVAI [indexed aortic valve area] = 0.6 cm2) and pedunculated echogenic material of 10-mm diameter on the prosthetic aortic valve, no paravalvular leak. No vegetation was seen on pacemaker leads. Mitral valve with degenerative change emphasizes posterior mitral leaflet/anulus with central mitral valve insufficiency I°/II°. Tricuspid valve was inconspicuous as far as visible. No tricuspid valve insufficiency. Aorta with evidence of arteriosclerotic changes. An abdominal ultrasound showed shrunken kidneys and an enlarged spleen.
Five days after admission, the patient underwent surgery for the repeated procedure. After careful preparation, the heart valve was removed, and the vitreous deposits were extracted. Intraoperative findings showed thrombotic/fibrinous flat deposits, which were attached to the valve leaflets. After the explanation of the prosthetic aortic valve and the removal of the infected tissue, an aorta ascendens enlargement plastic (Manugian) was needed and performed. A Medtronic Hancock II Porcine, 21 mm, was inserted into the aortic valve position. The intraoperative TEE showed no evidence of paravalvular leaks or prosthetic heart valve insufficiency. The following intensive care stay was uneventful, as well as the rest of the patient’s hospitalization.
Microscopic examination of the prosthetic aortic valve showed sclerotic tissue, and microbiological testing detected L garvieae bacterial as well as inflammatory cells, in the form of granulocytes. Microbiological testing of the blood culture detected L garvieae by using MALDI-TOF mass spectrometry. The final diagnosis was IE caused by L garvieae.
The patient was discharged on postoperative day 8, after 11 days of intravenous antibiotics, which were continued during the patient’s post-hospitalization rehabilitation. The patient underwent a total course of 6 weeks of penicillin and 2 weeks of gentamicin.
During the 6-month follow-up period, the patient was free of L garvieae IE (). |
pmc-6480994-1 | A 33-year-old Caucasian woman with history of unconfirmed pulmonary sarcoidosis presented to our emergency department with a 1-month duration of progressive shortness of breath. In the emergency department, she was tachypneic and hypoxic to 88% oxygen saturation on 8 L of supplemental oxygen. Chest X-ray was consistent with pulmonary venous congestion. Bi-level positive airway pressure and diureses with intravenous furosemide was started. Computed tomography (CT) pulmonary angiogram was negative for pulmonary embolism (PE) but showed ground glass opacities, hilar and mediastinal lymphadenopathy, bilateral pleural effusions, and increased prominence of the interlobular septa (). Echocardiogram showed evidence of severe pulmonary hypertension with estimated pulmonary artery pressure of 85 to 90 mm Hg, normal left ventricle, dilated right ventricle and right atria, and severely decreased right ventricle systolic function. Right heart catheterization showed normal filling pressures and pulmonary capillary wedge pressure but elevated pulmonary artery pressure and pulmonary vascular resistance ( ). Laboratory workup was negative for HIV, antinuclear antibody, abnormal thyroid stimulating hormone, rheumatic factor, ANCA, anti-SCL70, or elevated erythrocyte sedimentation rate (). Pulmonary function tests (PFTs) showed normal lung volumes with severely decreased diffusing lung capacity for carbon monoxide (DLCO). Ventilation/perfusion lung scan (V/Q scan) showed perfusion defects scattered throughout the entirety of bilateral lungs with several areas of perfusion/ventilation mismatch (), which raised the suspicion of CTEPH, and patient was started on heparin infusion. Lower extremities duplex was negative for acute or chronic deep venous thrombosis and a repeat CT pulmonary angiogram showed findings as mentioned above and no PE. Those CT findings were not consistent with CTEPH. CTEPH CT usually shows disparity in segmental arteries size, calcifications/dilatation of central pulmonary arteries, mosaic perfusion, and enlarged bronchial arteries. Bronchial dilatation without bronchial wall thickening is the most specific CT feature for CTEPH. Small peripheral PEs should not cause that severe PH without these CTEPH CT findings. CTEPH was ruled out and heparin infusion was stopped. With the previous clinical diagnoses of pulmonary sarcoidosis and the current chest CT findings, sarcoidosis remained in the differential for the etiology of her PH. Bronchoalveolar lavage showed hemosiderin-laden macrophages, but no diffuse alveolar hemorrhage. Transbronchial biopsy had focal mild fibrosis with no carcinoma or granuloma, and endobronchial ultrasound guided transbronchial needle aspiration also did not show carcinoma or granuloma. All microbiology was negative. Based on the above-mentioned results, sarcoidosis was less likely. The patient had mild improvement with diuresis and remained hypoxic after 8 days of hospitalization requiring 3 liters of oxygen on nasal cannula.
Based on the above-mentioned findings, a clinical diagnosis of PVOD was suspected. The patient was referred to another facility for lung transplantation evaluation. The patient was to be admitted to the coronary care unit for close monitoring and titration of epoprostenol while being evaluated for lung transplant. Unfortunately, patient died before initiation of medical therapy or lung transplantation evaluation. |
pmc-6480995-1 | A 34-year-old male diagnosed with CF as a child was found to have CFRD at age 20 after joining our tertiary care clinic. He was diagnosed with CFRD based on fasting glucose and HbA1c levels along with symptoms of polyuria and polydipsia. He was started on insulin therapy the year following diagnosis () with 1 unit of rapid acting insulin analogue, insulin aspart, per 20 g of carbohydrates, and no basal insulin. Eight years after being diagnosed with CFRD, he was approved to start a new therapy, ivacaftor 150 mg orally twice daily for treatment of his CF based on his G551D mutation. Pre-ivacaftor, his insulin regimen was unchanged as he generally averaged between 4 and 6 units of insulin aspart per meal consistent with a carbohydrate content of 100 to 120 g per meal. This dose was consistent with what he received as an inpatient during admissions with stable postprandial levels not requiring additional correction. Within 6 months of starting ivacaftor, he reported recurrent hypoglycemic episodes and stopped insulin therapy. Between starting ivacaftor and the 3 subsequent years, the patient had been hospitalized for CF exacerbations 8 times at our institution. On these admissions, he rarely required insulin with only low-dose sliding scale insulin aspart as needed for elevated blood sugars. Fasting blood sugars during these exacerbations on ivacaftor were variable but similar to those pre-ivacaftor, with fasting blood sugars ranging between 70 mg/dL and 140 mg/dL. His HbA1c levels were monitored at each of these admissions (). During 2 of these exacerbations, he did receive single-dose intravenous methylprednisolone in the emergency room prior to admission: June 2012 and May 2015. On all other exacerbations, he was admitted directly from clinic for intravenous antibiotics without steroid administration. Notably, he did have sinus infection in 2015 and received PO (per os) dexamethasone from otolaryngology service. Due to concern for medication-associated hypoglycemia, fluoroquinolones and sulfamethoxazole and trimethoprim were avoided when possible. In the first 4 years after receiving ivacaftor, he did not receive sulfamethoxazole and trimethoprim. He did eventually receive a course of sulfamethoxazole and trimethoprim as an outpatient in June 2017 as part of therapy for sinus-related issues. He was lost to follow-up for approximately 11 months during his fourth year of therapy with ivacaftor. On reestablishing care, he had a random finger-stick blood glucose >200 mg/dL with HbA1c 6.5% and was restarted on insulin aspart, 1 unit per 25 g of carbohydrates. At subsequent follow-up appointments, he complained of struggling with highly variable self-monitoring blood glucose levels ranging from 70 to 300 mg/dL, with the lows occurring postprandially and with exertion. His fasting finger-stick blood glucose values were consistently around 100 mg/dL. He was advised to follow a low-carbohydrate diet with <20% calories from carbohydrates as it was thought increased simple carbohydrates was increasing glucose and insulin secretion postprandially. On returning to diabetic specialty clinic over the past year, he had elevated HbA1c measurements of 8.8% and 8.6%, respectively. His current regimen consists of long-acting insulin, glargine 5 units at night, and rapid acting insulin aspart, 6 units before meals. Prior to starting ivacaftor, the patient had a consistent decline in lung function (), which improved after starting therapy (). Concurrent weights are provided in and showing consistently higher weights during ivacaftor therapy. |
pmc-6480996-1 | A 24-year-old male presented to the hospital with acute onset shortness of breath. Initial evaluation revealed cardiogenic shock, acute kidney injury (serum creatinine 2.54 mg/dL), and thrombocytopenia (platelet count 69 000). Heart catheterization revealed ejection fraction of 20%. Laboratory evaluation also revealed hematuria with red blood cell casts, proteinuria (0.7 g/dL), anemia (Hb 11.5 g/dL), low haptoglobin levels (<8), low C3, C4, and CH50 activity. ADAMTS 13 levels were normal (84% activity). There was no history of diarrhea, and STEC polymerase chain reaction (PCR) in stool was negative. ANA, p-ANCA, c-ANCA, hepatitis panel, and antiphospholipid Ab results were negative. Given the clinical picture, aHUS diagnosis was established and immediate initiation of treatment was advised. The patient also developed a skin rash on his arm during his hospital stay, which was biopsied. Histopathology showed features consistent with thrombotic microangiopathy with positive staining for fibrin and C4d confirming a diagnosis of complement-mediated microangiopathy or aHUS. He underwent spontaneous remission before complement blockade therapy could be initiated due to patient’s reluctance about the safety profile of immunotherapy medications and because of his wish of a second opinion. The patient was discharged after significant improvement of renal function, cardiac function, and normalization of platelet count, with a close follow-up at a higher level center. |
pmc-6481097-1 | 62-year-old woman with medical history significant for aortic stenosis and chronic atrial fibrillation presented to the emergency department with fatigue and progressively worsening shortness of breath with minimal exertion. She was asymptomatic at rest and denied chest pain, orthopnea, paroxysmal nocturnal dyspnea, leg swelling, presyncope, or syncope. She was incidentally found to have a systolic murmur during her pregnancy 20 years prior to this presentation. Notably, she had been offered aortic valve replacement in the past but declined.
Vital signs were normal with blood pressure of 110/60 mmHg, pulse rate of 79/min, temperature of 97.2°F, and respiratory rate of 16 breaths/min with normal oxygen saturation of 100% on ambient air. Physical examination was significant for irregularly irregular heart rhythm, and ejection systolic murmur was loudest in the aortic area with radiation to the carotids. Her lungs were clear to auscultation, and no pedal edema was noted. Electrocardiogram revealed atrial fibrillation with voltage criteria for left ventricular hypertrophy. Her most recent transthoracic echocardiogram revealed a thickened calcified aortic valve with decreased excursion with 4.6 m/s velocity suggesting a peak of 86 mmHg and mean of 36 mmHg suggestive of severe aortic stenosis. No other significant valvular abnormalities noted. Cardiac catheterization revealed widely patent coronary arteries.
Based on the presence of worsening symptoms and the risk of sudden cardiac death, the decision was made to proceed with surgical aortic valve replacement. Given her history of chronic atrial fibrillation, she was also planned for left atrial appendage exclusion and Cox Maze IV procedure simultaneously with the aortic valve replacement. Intraoperative transesophageal echocardiogram revealed quadricuspid aortic valves confirmed during surgical exploration (). The native stenotic quadricuspid aortic valve leaflets were excised, and a 21 mm Saint Jude Medical Trifecta valve was implanted. The left atrial appendage was excised, and Cox Maze IV procedure was performed. Postoperatively, she remained in junctional rhythm and underwent uneventful placement of the dual chamber pacemaker on postoperative day 3. She recovered without further complications and was discharged on the eight postoperative day. |
pmc-6481097-2 | 53-year-old female with past medical history of aortic regurgitation and hypertension presented to the cardiology office for routine follow-up. She denied chest pain, shortness of breath, orthopnea, dyspnea, or leg swelling. Physical examination revealed normal vital signs. Cardiac auscultation revealed diastolic murmur loudest at the 3rd left intercostal space. The remainder of physical examination was unremarkable. Transthoracic echocardiogram (TTE) 3 months earlier revealed a trileaflet aortic valve with moderate aortic insufficiency. TTE also noted a poorly defined subaortic membrane which prompted further assessment of valve anatomy by transesophageal echocardiogram (TEE) which confirmed the presence of quadricuspid aortic valve with severe aortic regurgitation from incomplete coaptation of the valve leaflets. Given that she was asymptomatic, we planned to continue surveillance by clinical and echocardiographic monitoring. |
pmc-6481098-1 | A 76-year-old nonsmoker male with history of Obstructive Sleep Apnea presented for elective a Left Knee Total Arthroplasty. Next day, after a successful intervention the patient developed a nonproductive continuous cough. A Chest X-Ray (CXR) was obtained and showed a nodular, irregular opacity in the right lung (). Computerized Tomography (CT) of the Chest followed and demonstrated a 3.2x2x4.3 cm mass in the superior segment of the right lower lobe as well as a 1.6 cm subcarinal lymph node (). A Positron Emission Tomography (PET) Scan revealed activity in the right lower lobe on both early and delayed imaging (). No other focal abnormalities were seen in the rest of the body. A core biopsy of the right lower lobe revealed an invasive, poorly differentiated, malignant melanoma ( and ). He was instructed to follow with pulmonary medicine after discharge and two months later, he underwent elective bronchoscopic wedge resection of the right lower lobe with lymph node dissection and biopsies, as well as biopsies of multiple structures in the respiratory tract. Ultimately, he was diagnosed with 3.7 cm malignant melanoma with negative margins and no evidence of metastasis; thus, no chemotherapy or radiation was indicated (). Serial Repeat CXR and CT scans have shown stable postoperative changes but no signs of recurrence. To date, three years and eight months after diagnosis, the patient continues to follow with his pulmonologist and oncologist every 6 months for surveillance visits; no recurrence has been documented so far. |
pmc-6481107-1 | A 36-year-old right-handed female tourist was admitted to the emergency department with her arm held in external rotation, complaining of severe pain and inability to move her right shoulder, which occurred while swimming breaststroke technique in the sea. After 15 minutes of breaststroke swimming, she suddenly felt her shoulder going out of place and was unable to continue swimming. In the initial physical examination, the shoulder joint was in slight abduction and external rotation. Her right shoulder had a typical “squared-off” appearance, with a prominence of the acromion. A careful neurovascular assessment proved normal. A radiograph of her right shoulder showed anterior dislocation (). The patient was sedated with pethidine (100 mg in 2 ml), and reduction was attempted. The right shoulder was easily reduced using Kocher's technique and confirmed by radiograph (), and her arm was immobilized (in adduction and internal rotation) in an arm sling. Our written discharge instructions pointed out the need for the restriction of arm movement, a magnetic resonance imaging in order to evaluate the soft-tissue structures, and an orthopaedic follow-up one week later in her home country.
The patient's history revealed a longstanding antiepileptic treatment period, recreational swimming participation, and one previous incidence of right ASD 3 months previously. The patient had received regular physiotherapy in her home country, and she had followed a scheduled rehabilitation program with swimming breaststroke technique (from the 10th week of her rehabilitation program and after) in order to follow this program during her 10-day vacation in Greece. |
pmc-6481114-1 | The patient is a 74-year-old Caucasian male with a history of atrial fibrillation, CHA2DS2-VASc score of 6, unprovoked deep venous thrombosis, and pulmonary embolism on long-term warfarin, who was initially found to have aortic stenosis (AS) in 2015 during preoperative cardiovascular evaluation for surgery on his right foot. His echocardiography at the time revealed moderate aortic stenosis (peak gradient of 32 mmHg, mean gradient of 22 mmHg), an ascending aorta diameter of 3.7 cm, and a severely enlarged left atrium (left atrial volume index of 66 mL/m2). His atrial fibrillation was controlled with propafenone and warfarin. Subsequently, his AS was followed clinically and echocardiographically every 6-12 months according to the guidelines.
By the end of 2017, he developed a worsening dyspnea on exertion and persistent atrial fibrillation along with episodes of symptomatic bradycardia (heart rate in 30-40 s) for which he underwent pacemaker implantation. His echocardiography revealed worsening aortic stenosis; the calculated valve area was 0.8 cm2 with a peak gradient of 45 mmHg and a mean gradient of 27 mmHg. The left ventricular systolic function was mildly reduced with an ejection fraction (LVEF) of 40%.
Upon further evaluation which included transesophageal echocardiography (TEE) and dobutamine stress echocardiography (DSE), it was felt that his clinical features were consistent with a low-flow, low-gradient severe AS. He was subsequently referred for evaluation for transcatheter aortic valve replacement (TAVR).
While awaiting TAVR, his symptoms continued to progress as he developed syncopal episodes. Furthermore, as part of his pre-TAVR evaluation, he underwent CT angiography of his chest which revealed a worsening of his ascending aortic aneurysm with an aortic root diameter measuring 4.6 cm (). A shared decision was made to let him undergo open heart surgery to repair both pathologies. By February 2018, he underwent a successful complex surgical procedure with bioprosthetic AVR (27 mm Edwards Perimount Magna pericardial valve), ascending aortic aneurysmal repair (30 mm Hemashield tube graft), mitral valve repair (36 mm Edwards flexible annuloplasty), left-sided maze procedure, and left atrial appendage excision and ligation (the LAA was ligated at its base and excised, and the stump was oversewn in 2 layers using #4-0 prolene sutures). He was placed back on warfarin and aspirin. He was discharged after an uneventful hospital course with referral to our outpatient anticoagulation clinic and cardiac rehabilitation program.
His anticoagulation was closely monitored. Four months later, however, he presented with persistent frank hematuria. A shared decision was made to stop his warfarin since it had been more than 3 months from his bioprosthetic valve replacement and more than 10 years from the onset of his lone PE. He was subsequently referred for further urological workup. Two months later, while his hematuria had resolved, it was accidentally discovered that he had a sizable left atrial thrombus upon undergoing surveillance CT chest imaging for his ascending aorta, which was further delineated using TEE (). Subsequently, he was restarted back on warfarin with a heparin bridge, while no decision was made to pursue surgery.
He had a follow-up TEE 4 months later which showed a very little to no change in the size of the thrombus despite adequate anticoagulation. Fortunately, there has not been any thromboembolic event up to date. |
pmc-6481116-1 | A 32-year-old male with a history of intravenous drug abuse had infective endocarditis treated for 6 weeks with appropriate antibiotics and mitral valve repair and annuloplasty due to severe mitral regurgitation (MR) and tricuspid regurgitation (TR) 9 months ago. At that time, he presented to the ER for fevers, poor appetite, and lethargy which was gradually worsening over a week duration. On presentation, he was found to be febrile with a temperature of 102°F. Physical examination was pertinent for a systolic murmur best heard at the apex beat and tachycardia of 118 beats per minute. Lab examinations were notable for a WBC of 15 × 103/mcl, a hemoglobin (Hb) level of 9.1 g/dl, and a lactic acid level of 3.2 mg/dl. Blood culture was done, and the patient was started on antibiotics with vancomycin and piperacillin/tazobactam. Blood culture grew Gram-positive cocci in pairs, which were later identified as methicillin-resistant Staphylococcus aureus. He was continued on vancomycin. Transthoracic echocardiography revealed vegetation in the mitral valve with severe MR and TR; this was confirmed with transesophageal echocardiography. He was subsequently taken to the OR for mitral valve repair and annuloplasty. The postsurgery period was uneventful, and he improved clinically and was discharged to complete a 6-week course of vancomycin.
The patient re-presented 9 months later to the emergency room with a history of shortness of breath on exertion and fatigue. He did report a history of recent intravenous drug use after completion of antibiotics for IE and reuse of needles after washing them. On physical examination, he was febrile with a temperature of 100.7°F and tachypneic with a respiratory rate of 27 breaths per minute. Lungs were clear to auscultation, and no jugular venous reflux, no pedal edema, and no skin lesions were noted. A 4/6 systolic murmur was noted. Lab examinations were pertinent for a hemoglobin level of 8.3 g/dl, a WBC of 12.0 × 103/mcl, and a creatinine level of 1.5 mg/dl. Blood culture was done, and the patient was started on antibiotics with vancomycin and cefepime. Transesophageal echocardiogram showed severe mitral regurgitation (MR) status after mitral annuloplasty and a posterior directed eccentric MR jet. The MR is mostly from the P3/A3 area with rudimentary posterior leaflets and relatively A2 and A3 prolapse. A mildly thickened tricuspid valve with severe tricuspid regurgitation (TR) was also seen. No vegetations or abscesses were noted. Blood cultures grew back positive for B. cepacia in one bottle.
Given this, the patient was taken to the operating room for repeat sternotomy 72 hours after admission, mitral valve replacement with a St. Jude Medical mechanical mitral valve prosthesis of 27 mm, and tricuspid valve annuloplasty with a 30 mm ring. The postoperative course was uneventful. The patient remained afebrile with a normal blood cell count. The pathology report of the specimen (native heart valve) was positive for fibrous tissue and fibrinous material with few inflammatory cells. Cultures of the heart valve grew Burkholderia cepacia which was sensitive to trimethoprim/sulfamethoxazole, meropenem, levofloxacin, and ceftazidime. Based on Duke's criteria, the patient was diagnosed with IE.
The patient was started on treatment with intravenous levofloxacin 500 mg daily and was discharged after one week to complete 6 weeks of intravenous antibiotics at a rehabilitation center. Repeat blood cultures prior to discharge were negative for any organism. He was started on anticoagulation with warfarin and discharged to a rehabilitation center.
After 2 months, at follow-up, the patient remained free from mechanical valve-related events, had no new occurrences of fever, and had no other symptoms of infection. He reported good exercise tolerance. He denied any drug use since discharge. |
pmc-6481117-1 | To our knowledge, this is the first reported case of an index finger MCP joint dislocation surgically treated by a lateral approach.
The authors describe a case of a 16-year-old male who suffered a fall onto his outstretched right hand during a soccer game. The patient presented to the ER with pain and deformity of the index finger MCP joint. Volarly, the prominence of the second metacarpal head was evident ().
Radiographs confirmed a dorsal index finger MCP joint dislocation and showed a small dorsal osteochondral fragment (Figures and ).
After multiple unsuccessful reduction attempts under ring block by different physicians, the patient was referred to surgery.
Under general anesthesia, a lateral surgical approach () was performed on the MCP joint. A straight longitudinal incision was made over the lateral aspect of the MCP joint; the volar neurovascular bundle and the dorsal branch of the digital nerve were identified and retracted with Farabeufs.
Interposition of the volar plate () preventing the reduction was observed. Applying gentle traction and flexion, the MCP joint was reduced, and proximal volar plate reinsertion with a 4-0 Vicryl suture was performed.
The posterior joint capsule was identified and split longitudinally, above the collateral ligament. Once adequately exposed, a small osteochondral fragment was found (). Reduction and retrograde fixation of the osteochondral fragment with a 1.7 mm screw were performed, burying the screw head in the cartilage.
The joint capsule, subcutaneous layer, and skin were closed using appropriate sutures. Reduction was confirmed by intraoperative fluoroscopy.
The patient was placed in a volar splint with approximately 45° of flexion and discharged on postoperative day zero without any complications.
Immobilization was removed by week 3. Radiographic control revealed joint congruence, and the patient was encouraged to actively mobilize the finger.
At week 6, the fracture was consolidated (Figures and ). The joint was painless and presented slight stiffness (ROM 0-70°). The patient could return to competition with protective syndactyly.
One year postoperative, there was no pain, growth disturbance, or joint stiffness, with full ROM of the index finger. |
pmc-6481118-1 | A 78-year-old woman with an unremarkable past medical history presented to the clinic with symptoms of progressively worsening myelopathy including gait dysfunction and impairment of upper extremity fine motor skills. Noncontrast MRI of the cervical spine demonstrated multilevel degenerative disease and a dorsal intradural extramedullary lesion extending from C3-C6.
The patient underwent an elective posterior C3-7 decompression, C3-T1 instrumented fusion, and resection of intradural tumor. Final pathology was psammomatous meningioma. The patient tolerated the procedure well and postoperatively was transferred to the neurological ICU for close monitoring.
The patient was initially discharged from the hospital to an inpatient rehabilitation facility on POD 6. At the time of discharge, she was awake, oriented, and followed commands in all extremities with some mild weakness in the right deltoid and biceps, graded 4/5; the remaining muscle groups were 5/5. On POD 10, the patient developed progressive lethargy and was readmitted to the hospital for further evaluation. Upon readmission, she opened her eyes to verbal command, had incomprehensible speech, and would move all extremities spontaneously with strength 3/5 but did not follow commands. She was afebrile with WBC = 6.9 and no metabolic abnormalities. Given her recent intradural surgery, a lumbar puncture was performed. CSF cytology demonstrated 397 WBC, 20 RBC, 291 protein, and 40 glucose. CSF PCR was positive for HSV 1. Interestingly, intracranial imaging did not demonstrate the typical findings associated with herpes encephalitis (). She was initially placed on broad spectrum antibiotics in addition to antiviral therapy. She was also connected to continuous EEG monitoring, found to be in status epilepticus, and required escalating therapy to the point of intubation with midazolam infusion. Seizure control was ultimately achieved, and she was maintained on levetiracetam 1500 mg q12H for 30 days and lacosamide 200 mg q12H for 7 days. The remainder of her infectious work-up was unremarkable, allowing her to be narrowed to only a 21-day course of IV acyclovir 500 mg q12H. Due to acute respiratory failure from encephalopathy, she underwent tracheostomy and PEG placement (POD 29); she underwent repeat MRI approximately 2 weeks after HSV diagnosis which still lacked typical findings of HSV (). However, she continued to improve clinically; at the time of discharge, she would open her eyes spontaneously and followed simple commands in all extremities. Approximately 3 months out from being diagnosed with HSV encephalitis, she was oriented twice and followed commands in all 4 extremities with 5/5 strength in the bilateral upper and 3/5 in the bilateral lower extremities.
At a three-month follow-up, the patient presented no new symptoms. The PEG was still in place and EEG revealed excessive theta waves during wakefulness and bilateral midtemporal delta slowing (left more prevalent than right). Though the patient had dysarthria and poor attention/processing, she followed commands in all 4 extremities consistent with her last evaluation. Vimpat 200 BID and 1500 mg of Keppra were prescribed for ongoing clonus spasticity. All other medications were continued as prescribed. In the following month, the patient had a normal LOC, very slight dysarthria, and improved situational awareness. No recent seizures had occurred. Lacosamide was reduced to 150 mg every 12 hours and Vimpat was reduced to 150 BID. Upon final examination, she followed commands in all 4 extremities with 5/5 strength in the bilateral upper and 4-/5 in the bilateral lower extremities. |
pmc-6481122-1 | A 33-year-old Caucasian woman presented with one day of hematochezia and hematemesis and an enlarging left lower quadrant inguinal mass over the prior six months. She had a 9 × 9 cm tender mass in the left inguinal region and a diffusely tender abdomen. Initial laboratory tests showed hemoglobin 9.9 g/dL, platelets 154K/cumm, INR 3.51, PT 35.5 seconds, PTT 35.4 seconds, serum fibrinogen < 30 mg/dL, elevated D dimer, and serum lactate 3.9 mmol/L. Serum creatinine was 0.96 mg/dL, alkaline phosphatase 51 U/L, AST 35 U/L, ALT 17 U/L, total bilirubin 1.1 mg/dL, and LDH 615 U/L. Computerized tomography scans showed multiple small pulmonary nodules, small bowel dilatation, a 6.8 cm left pelvic mass associated with peritoneal caking, and lympadenopahy in the neck, central mesentery, and inguinofemoral chain.
The patient underwent emergency laparotomy for a hemoperitoneum and small bowel intussusception secondary to a small bowel metastasis of melanoma (later determined to have BRAF v600E mutation). On postoperative day 3, she developed dusky discoloration of the nose and several digits and was treated with unfractionated intravenous heparin. Her course was further complicated by intra-abdominal hematoma, necrotic bowel secondary to microthrombi requiring resection, extensive limb necrosis requiring amputations, and acute tubular necrosis requiring hemodialysis.
A primary cutaneous melanoma was not identified. The patient received dabrafenib and trametinib and experienced prompt resolution of DIC and improvement of renal function. Unfortunately, control of malignancy was brief (<4 weeks), and she died of disease without recurrent DIC. |
pmc-6481123-1 | A 71-year-old woman was prescribed analgesics at another orthopedic clinic because of pain and swelling in the right carpal area. Half a month later, she could not flex the index finger of her right hand. She had no past history of trauma, carpal bone and joint disorders, or inflammatory disease and had not taken any steroid injection recently. She has been a farmer for a long time. On clinical examination, she was not able to actively flex the distal interphalangeal joint of her index finger. The proximal interphalangeal joint could be flexed to 40°. The anterior-posterior and lateral plain radiographs showed a bony spur arising from the volar ulnar aspect of the distal radius (Figures and ). Computed tomography revealed that the bony spur from the radius was a part of DRUJ OA ().
During surgery, under general anesthesia and using tourniquet control, a zig-zag incision was made at the level of the DRUJ on the palmar side. Surgical exploration confirmed that at the wrist joint level, the flexor digitorum profundus (FDP) of the index finger had undergone degeneration and complete rupture. The flexor digitorum superficialis (FDS) of the index finger was elongated and thinned. The FDP of the middle finger had undergone slight degeneration; however, tension of the FDP of the middle finger was normal (). The bony spur toward the volar side was covered with a joint capsule (). The volar capsule of the DRUJ had a pinhole-sized perforation (). There was synovial fluid from the pinhole-sized perforation (). Resection of the bony spur and the DRUJ capsule repair were performed. Then we performed single-stage reconstruction of the FDP of the index finger with a right palmaris longus bridge graft using interlacing 4-0 nylon sutures. |
pmc-6481125-1 | A 17-year-old right-hand dominant female presented with atraumatic, progressive, activity-related right wrist pain for five months. Clinical examination showed tenderness over the scaphoid with a limited range of motion and decreased strength compared to her left wrist. Wrist radiographs revealed a lytic lesion of the scaphoid with a nondisplaced pathologic fracture (), and MRI demonstrated a marrow-replacing expansile lesion with extraosseous extension and multiple fluid-fluid levels (Figures –).
An open biopsy from the volar approach and intraoperative frozen section revealed the giant-cell tumor of bone. A volar approach for the biopsy was selected to allow complete access to the scaphoid since the lesion was Campanacci grade 3 and a dorsal approach may have limited the operative area. The lesion was curetted, electrocautery was applied to the surfaces of the defect, and it was packed with iliac crest bone autograft including a corticocancellous strut; pathology confirmed the diagnosis (Figures and ). The patient tolerated the procedure well. She wore a long-arm thumb spica cast for 12 weeks and used a bone stimulator from week 6 to 12. At her 4-month follow-up, she was transitioned to a splint and began occupational therapy, and her X-rays showed early consolidation of the graft without displacement or obvious local recurrence (). At her 4-month exam, she had 25 degrees of wrist flexion and 25 degrees of extension. She had full motion and function of all of her fingers and could oppose all fingers to her thumb without difficulty.
At her 1-year follow-up visit, she complained of increased tightness and intermittent pain in her wrist. She had lost the ability to comfortably flex her wrist, but otherwise, her exam was unchanged. Her wrist X-rays showed an interval lucency within the scaphoid, and CT scan demonstrated cystic appearance within the scaphoid and demineralized cortical rim, concerning for tumor recurrence (Figures –).
Fifteen months after her initial procedure, she underwent complete excision of her scaphoid and a four-corner wrist fusion. Intraoperative pathology assessment confirmed recurrence of the giant-cell tumor of bone. She was placed in a thumb spica splint for 6 weeks, then transitioned to a removable splint. At 12 weeks postoperative, she began occupational therapy. At her one-year follow-up from her excision and fusion, she was back to work and pain-free. She could extend her wrist 20 degrees and flex 15 degrees. She had 70 degrees of pronation and supination. She could radially deviate her wrist 5 degrees and ulnarly deviate her wrist 10 degrees. At her one-year follow-up, her grip strength was 5/5. Her follow-up X-rays taken at that visit showed a well-healed fusion of the lunate to the capitate to the hamate to the triquetrum (Figures and ). |
pmc-6481130-1 | A 24-year-old male complained of a sinus tract located in the buccal gingiva of the mandibular left posterior area for 12 years. The patient experienced spontaneous toothaches in his left posterior region of the mandible which vanished when antibiotics and anti-inflammatory agents were taken 12 years ago. Subsequently, a sinus tract was found in the buccal gingiva of the patient's mandibular left posterior area. Although the patient felt uncomfortable while eating, he did not have it checked by any dentist until this hospital visit.
Intraoral examination revealed a violet-blue patch in the buccal gingiva of tooth #20 with a diameter of 2 mm. At the center of the patch, a closed sinus tract was noticed (). Abraded dens evaginatus was found in the center of the occlusal surface of tooth #20, and a fine explorer could not be inserted into the center of the fractured dens evaginatus (). The tooth showed a negative response to the cold test with Endo Ice and hot test with heated base plate gutta-percha, sensitivity to percussion, and no mobility, whereas there was no significant periodontal pocket around. An immature root with a blunderbuss apex and a periapical shadow with the size about 4 mm × 3 mm were demonstrated by X-ray radiography (). Thus, the clinical diagnosis of tooth #20 was pulp necrosis with chronic periapical periodontitis.
Without anesthesia, the tooth was accessed. Accompanied by a copious hemorrhage, the patient experienced mild pain upon reaching the apex area with a barbed broach. The pulp chamber was abundantly irrigated with 3% hydrogen peroxide and 0.9% saline until no significant hemorrhagic secretion was noticed. As the tooth had a blunderbuss apex, accurate root canal length cannot be measured by electronic root canal length measurement devices; thus, the length of the canal was measured with an X-ray by placing a #40 gutta-percha in the canal and measuring the length of the gutta-percha. The canal was carefully dried, and a little cotton pellet was put into the canal as drainage. One week later, the patient reported no symptoms since the first appointment. There was no hemorrhage upon reentry, and the Ca(OH)2 paste mixed with silicone oil was placed into the root canal. Glass-ionomer cement was used to seal the access (). Three months after the first Ca(OH)2 treatment, the patient remained asymptomatic, and the patch disappeared. The X-ray examination showed Ca(OH)2 absorption in the canal (). After removing the Ca(OH)2 paste by 0.9% saline, a thin hard barrier was detected, while an open apex was still detectable by X-ray in the treated tooth (). Therefore, a second injection of Ca(OH)2 paste was applied and the access was closed with glass-ionomer cement similar to the initial treatment. Seven months after the first Ca(OH)2 treatment (four months after the second treatment), periapical radiography demonstrated the absorption of Ca(OH)2 paste, significantly narrowed root canal, obviously established root-end barrier, and progressively healed periapical bone with minor radiolucency around the apex (). An apical probing with a #40 K-file was used to confirm the apical barrier, and there was no exudate drainage evident. Then, the canal was washed, dried, and filled with gutta-percha (). The tooth was rebased with glass-ionomer cement and sealed with composite resin.
An intraoral examination done two years after the composite resin sealing showed tooth #20 without discoloration and disappearance of the patch in the buccal gingiva (). The patient did not return for subsequent follow-ups. |
pmc-6481134-1 | A 37-year-old female with a medical history significant for intravenous drug abuse initially presented to the Emergency Department (ED) complaining of right upper extremity pain and swelling of over the past day. Suspecting superficial thrombophlebitis, she was discharged from the ED with a prescription for clindamycin. However, the patient subsequently returned to the ED two days later with worsening right upper extremity pain and swelling now associated with fever and chills.
Vital signs on admission were notable for temperature 38.1°C, blood pressure 152/90 mmHg, and heart rate 124 beats per minute. Physical exam revealed the right forearm to be significantly swollen on the medial aspect, with the area notably erythematous and warm to touch. Laboratory data showed a leukocytosis of 14,300/μl predominantly neutrophilic. Chest X-ray showed bilateral airspace disease, and subsequent computed tomography (CT) chest revealed innumerable right pulmonary septic emboli. Transthoracic echocardiogram and transesophageal echocardiogram were negative for vegetation. Broad spectrum antibiotics were initiated pending blood culture data, which resulted by the second day as positive for methicillin resistant staphylococcus aureus (MRSA) bacteremia in 4 out of 4 bottles. The patient was then transitioned to vancomycin monotherapy for an extended time course.
Surveillance cultures done on the fourth day of hospitalization were negative. In the interval, the patient underwent multiple incision and drainage procedures of several abscesses on her right upper extremity, the largest of which measured 3 cm in diameter.
Despite appropriate antibiotic therapy, the patient was spiking intermittent fevers. Investigation with repeat CT scan of the chest revealed bilateral loculated empyema. The patient subsequently underwent bronchoscopy and eventually right video-assisted thoracic surgery (VATS) procedure that was converted to open left thoracotomy for evacuation of loculated empyema, decortication, and placement of chest tube. Pleural fluid cultures were positive for MRSA.
The patient remained persistently febrile, with workup not revealing an identifiable cause. Surveillance blood cultures remained negative. Repeat CT scan of the chest revealed new small filling defect in the left lower lobe segmental pulmonary artery; however, the right sided filling defects had resolved. CT scan of the abdomen was pursued searching for other causes of fever but was unremarkable.
On day 22 of vancomycin therapy, liver enzymes were noted to be uptrending, with aspartate aminotransferase peaking at 2,563 units/L, alanine aminotransferase peaking at 1,192 units/L, and alkaline phosphatase peaking at 1,076 units/L (). Within two days, new leukocytosis was noted and continued to uptrend for the next few days. On day 25 of vancomycin therapy, a diffuse maculopapular rash erupted involving bilateral upper and lower extremities as well as the upper chest (Figures and ). At this time, suspecting vancomycin-induced DRESS syndrome, antibiotic therapy was switched to ceftaroline. By day 29, the eosinophil count began uptrending, with absolute eosinophil count noted at 600/μl on day 35 (). She concurrently developed acute kidney injury with blood urea nitrogen peaking at 27 mg/dL and serum creatinine peaking at 1.4 mg/dL (baseline creatinine 0.6 mg/dL). Multiorgan system involvement was noted as hepatic and renal dysfunction was evident on laboratory workup, and the patient subsequently developed cardiopulmonary instability requiring management in the medical intensive care unit. The patient eventually improved on glucocorticoid management that was planned for an extended taper over 12 weeks. The antibiotic was changed to Linezolid to finish six-week course of antibiotic for MRSA bacteremia. |
pmc-6481135-1 | A 67-year-old woman with a history of asthma presented to the Emergency Department (ED) with chest pain lasting 3 hours before admission. The 12-lead ECG revealed myocardial infarction with ST segment elevation (STEMI) (elevation present in the inferior and V5/V6 leads) (Figures –). The patient was hemodynamically stable with normal blood pressure and Killip status I. After applying a bolus dose of acetylsalicylic acid (300 mg) and ticagrelor (180 mg) orally, an urgent coronary angiography was performed which showed a middle segment left circumflex artery (LCx) occlusion and a collateralized total occlusion of the proximal segment of RCA. Three drug-eluting stents (DES) were implanted in the LCx, and due to unsatisfactory postprocedural TIMI flow (TIMI I), GP IIb/IIIa inhibitor eptifibatide was applied after the procedure (180 mcg/kg as a IV bolus—15,3 mg, followed by a continuous infusion of 2 mcg/kg/min up to 75 mg of eptifibatide in total) (Figures –). Postprocedural ECG revealed satisfactory ST segment resolution, and the patient had no chest pain. Laboratory tests revealed elevation of cardioselective markers (admission values: hsTI 51 ng/L and creatine kinase 106 U/L; peak values during hospitalization, 18 hours after the intervention: hsTI 24100 ng/L and creatine kinase 1348 U/L). Echocardiography during the first day after procedure showed a preserved left ventricular ejection fraction (50%) with a inferoposterior wall hypokinesis, with no other significant pathology. The patient was treated with beta blocker, ACE inhibitor, and statin permanently as well as with a 100 IU/kg dose of low-molecule heparin (enoxaparin) twice a day during the first 4 days. On the 5th day of the hospitalization, the patient reported nonspecific chest discomfort, without cardioselective enzyme reelevation, but due to nonspecific changes in the inferior leads of the ECG, the new onset of the ischemia could not be excluded, so the coronary angiography was repeated. The second coronary angiography revealed CTO of the RCA and an in-stent thrombosis with occlusion of stents in LCx (). Due to unsuccessful recanalization of the LCx using the guidewire and the TIMI I flow at the end of the first procedure, optimal anti-ischemic therapy was proposed including isosorbide-mononitrate, trimetazidine, ranolazine, in addition to ticagrelor, acetylsalicylic acid (ASA), nebivolol, ramipril, and atorvastatin. After the following four days of uneventful hospitalization, the patient was discharged with chronic therapy which included all the abovementioned medications. Three months later, at the planned outpatient follow-up visit, the patient presented with stable angina pectoris symptoms during moderate physical activity and a new coronary angiography was scheduled. After admission, coronary angiography was performed showing a spontaneous recanalization of the RCA, with a nonsignificant stenosis of the proximal-to-middle RCA segment, a 50% stenosis of the posterior descending artery, and no collaterals from left anterior descending artery (LAD) as well as persistent in-stent occlusion in the LCx with new collaterals from the first marginal artery (). Dobutamine stress echocardiography was performed the day after the coronary angiography, showing no ischemia progression during testing in the RCA- and LCx-supplied myocardium. Due to stress echocardiography finding, no coronary intervention was indicated. Medical therapy was continued after dose optimization (80 mg of isosorbide-mononitrate daily instead of 40 mg and 1000 mg of ranolazine daily instead of 750 mg). Before discharge, an optimal ECG stress test was performed and no pain or ECG signs of ischemia were reported. |
pmc-6481136-1 | A 43-year-old woman, gravida 4, para 2, was referred due to a suspicious finding on 1.5 T contrast-enhanced MRI; the indication for MRI by the referring gynecologist was family history, with one close relative with breast cancer (her mother diagnosed at age 50). The patient's personal medical history was unremarkable. In particular, she had no prior history of breast disease or breast injury and she had not taken any exogenous hormones in the past; there was no palpable mass, skin changes, or axillary lymphadenopathy. Diagnostic full-field digital mammography and breast ultrasound were also unremarkable. However, on MRI, a small lesion with irregular margins measuring approximately 6 mm was detected in the right breast, in the lower inner quadrant. After gadolinium contrast medium administration, a type 3 curve, with rapid initial rise, followed by reduction in enhancement (washout) in the delayed phase was noted, raising suspicion for malignancy. In , representative MRI views of the lesion are presented. The lesion could not be visualized on second-look targeted breast ultrasound and full-field digital mammography reevaluation. After thorough discussion with the patient and signed informed consent, a wide local excision was performed after 3 T MRI-guided hook wire localization. The suspicious lesion was excised with clear margins. Macroscopically, it was ovoid, soft, spongy, and dark red-brown with a maximal diameter of 5 mm. On microscopy, diagnosis of cavernous hemangioma was established; it consisted of dilated, congested hyperemic blood vessels, lined with endothelial cells; there were no signs of malignancy or atypia in the lesion and surrounding tissue. In , representative microscopic views of the lesion are presented. Follow-up MRI two months later confirmed removal of the whole lesion. Today, almost five years later, the patient remains in good health without any signs of recurrence or any findings on imaging tests (annual mammography and ultrasound). |
pmc-6481144-1 | A 79-year-old male with past medical history of hypertension, atrial fibrillation (CHA2DS2-VASc score = 4, only on Aspirin), type 2 diabetes mellitus, and right lower extremity leiomyosarcoma with lymphedema of the affected limb treated with surgical resection and radiotherapy presented to the emergency department with exertional dyspnea, worsening of lower extremity edema, and weight gain. On arrival vitals shows blood pressure 140/95, heart rate 80, and SpO2 98. Physical examination was remarkable for irregular heartbeat, decreased bilateral lung sounds, and bilateral grade 3+ lower extremity edema up to the sacrum. Electrocardiogram (EKG) showed atrial fibrillation with new left bundle branch block (LBBB) (). The laboratory workup was significant for brain natriuretic peptide (BNP) 2,233 pg/ml, troponin 0.38 ng/ml, and d-dimer 1.81 mg/l. Otherwise, he had normal basic metabolic panel (BMP) and complete blood count (CBC). Chest X-ray (CXR) and computed tomography (CT) of the chest showed cardiomegaly and moderate pleural effusion in bilateral lung fields ().
Transthoracic echocardiogram (TTE) showed left ventricular ejection fraction of 20% and severe global hypokinesis. Coronary angiogram revealed minimal coronary artery disease. The patient was diagnosed with nonischemic cardiomyopathy and was treated with lisinopril, metoprolol, spironolactone, diuretics, and enoxaparin. Despite medical management, he remained in atrial fibrillation for which he was scheduled for rhythm restoration with transesophageal echocardiogram- (TEE-) guided DC cardioversion (DCCV). TEE revealed a large multilobulated mobile thrombus in the left atrial appendage, and sessile irregular echogenic material attached to the wall of the left atrium was visualized (). Accordingly, cardioversion was aborted. The patient refused anticoagulation with Coumadin therapy and instead opted for rivaroxaban, aware of risks of possible anticoagulation failure or adverse events, as he would not be on standard of therapy. The patient was discharged with guideline-directed management for coronary artery disease and heart failure as well as rivaroxaban 20 mg daily. On subsequent outpatient follow-up three months later, repeat TEE showed no visible thrombus (). No evidence of clinical thromboembolic events was noted between initial and follow-up encounters. |
pmc-6481150-1 | A 65-year-old Caucasian male with a pertinent history of ischemic stroke, subarachnoid hemorrhage, and recent onset of simple partial seizures 2 months prior to admission presented with a 4 week history of worsening diplopia, vertigo, nausea, and vomiting. These symptoms were initially intermittent but had become unremitting during his initial presentation. The patient denied focal neurologic deficits, ataxia, hallucinations, headaches, fevers, chills, or night sweats. The patient underwent an MRI and magnetic resonance venography (MRV) upon seizure onset that revealed 2 areas of chronic hemorrhage but was otherwise unremarkable ().
On admission, vital signs were stable. Physical exam demonstrated rightward horizontal nystagmus, 20/40 visual acuity bilaterally, and subtle bilateral dysmetria on finger-to-nose test. A complete neurologic exam was otherwise normal. Labs were unremarkable.
An MRI showed a 2.5 × 1.8 × 1.7 cm homogenously enhancing mass that extended from the roof of the 4th ventricle (). Perilesional edema was present without mass effect or obstructive hydrocephalus. The patient was started on dexamethasone and underwent a posterior fossa craniotomy with stereotactic biopsy that showed locally invasive disease extending from the roof of the 4th ventricle into the cerebellar vermis. Intraoperative frozen sectioning revealed sheet-like arrangements of highly pleomorphic lymphoid tumor cells with atypical mitotic figures and focal necrosis, suggestive of lymphoma. Permanent sections confirmed the findings and highlighted the diffuse and angiocentric nature of the lymphoma, which was comprised primarily of large-sized lymphoma cells (). Relevant immunohistochemical staining was positive for CD45, CD20, CD79a, MUM-1, MIB-1 (Ki-67: 80% proliferation rate), Bcl-6, and Bcl-2 and negative for CD3, CD5, CD10, CD30, C-MYC, and EBER in situ hybridization. The final histopathologic diagnosis was DLBCL with a postgerminal center phenotype. The patient had peripheral blood flow cytometry with 1% clonal B cells coexpressing CD5 with surface kappa light chain restriction, possibly representing a monoclonal B cell lymphocytosis. Cerebrospinal fluid (CSF) flow cytometry was negative for malignancy. Lactate dehydrogenase (LDH) was within normal limits. Positron emission tomography (PET) indicated increased uptake (SUV of 19.3) in the 4th ventricular mass as well as a small focus of uptake in the right pituitary gland (). Staging workup with computed tomography (CT) of the chest, abdomen, and pelvis, as well as whole body PET scan, was otherwise negative for metastasis.
The patient was initiated on rituximab, methotrexate, and cytarabine, followed by intrathecal methotrexate and a combination of cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD), with plans for subsequent treatment with temozolomide and whole-brain radiation. After receiving his first dose of rituximab and methotrexate, he noted significant improvement in his symptoms. After his second cycle of Hyper-CVAD, repeat imaging showed resolution of the masses; he has been on single agent ibrutinib as maintenance therapy since and without recurrence for 10 months. |
pmc-6481151-1 | A 40-year-old female patient presented at the Emergency Department of our institution with complaints of back pain for the last three days that started after moderate physical exertion. The patient referred no pain relief after taking anti-inflammatory drugs and denied respiratory symptoms such as chest pain, dyspnea, or cough. No weight loss, anorexia, or other symptoms were reported. There was no referral of previous surgeries or medications. A different, stronger anti-inflammatory drug was prescribed, but three days later she returned to the hospital, where a lumbar radiograph revealed the presence of a lytic lesion in the L4 vertebra. Due to the nonspecific appearance of the lesion, the patient underwent an MR of the lumbar spine. The exam revealed the presence of a heterogeneous, T1-hypointense mass in the body of L4, causing its partial destruction, and nerve root compression (). A CT-guided biopsy was performed in order to assess the etiology of this mass. The pathology report described the presence of tumor fragments of mesenchymal origin with smooth muscle differentiation that were diffusely positive for estrogen and progesterone receptors. No obvious nuclear atypia or mitotic figures were identified. Ki-67 proliferation index was less than 1%. The final report stated that the lesion was compatible with BML.
Subsequently, a contrast-enhanced CT was performed to evaluate if other organs were affected: there were several soft tissue density round masses in the thorax, the largest being located in the left lung, measuring 44 mm (). There was a 12 cm mass in the left iliac crest that enhanced after intravenous contrast. This mass had a lytic component and exhibited an intrapelvic bulky element (). There was enlargement of the uterus due to the presence of several leiomyomas ().
The clinical conduct included vertebral subtotal tumor removal, laminectomy, and pedicle screw fixation on L3-L5 () to decompress the nerve roots and reduce the symptoms. Oophorectomy and hysterectomy were performed and confirmed the benignity of the leiomyomas. Outpatient treatment consisting of anastrozole, an aromatase inhibitor, was prescribed. At the 6-month follow-up CT examination, the nodular pulmonary and iliac crest masses kept the previous dimensions and no new lesions were observed. Long-term follow-up was recommended in this case.
Regarding the low back pain, the patient referred a moderate improvement. Despite this, she needed to resort frequently to taking anti-inflammatory drugs after some physical exertion. The patient also reported a sensation of pressure in the pelvic region, especially in the lateral decubitus, most likely associated with the mass of the iliac bone. |
pmc-6481245-1 | Our patient is a 58-year-old African American woman who initially presented to an outside facility of difficulty swallowing, neck pain, fatigue, and shortness of breath for 3 months. She had bilateral neck swelling, greater on the left side, that started about a year prior to her presentation. This patient also had a 4-day history of productive cough and nasal drainage. She had a 30-pack year history and consumed approximately 12 beers daily for years.
She reported a history of CLL and having been treated with chemotherapy, but she was unsure of the regimen. Examination findings and computed tomography (CT) scan of neck at the outside facility were concerning for impending airway compromise, and she was transferred to our hospital to be evaluated by an otorhinolaryngology or oral and maxillofacial surgery service.
During her evaluation in our emergency department, she was noted to have a muffled voice with mild gurgling of secretions with speech. Large, fixed cervical and submandibular lymph node, and a large left neck mass were present. Enlarged axillary lymph nodes were palpated bilaterally. The uvula and posterior oropharynx were not visible due to her tongue and left neck mass. White blood cell (WBC) count was 83 600/mm3. She was started on dexamethasone to reduce the compression of the neck mass on the airway. The oral and maxillofacial surgery service team evaluated her and determined that a definitive airway was not indicated. She was admitted to the medical intensive care unit for close airway monitoring.
The oncology team became involved at this time. Her CLL was the suspected etiology of the neck mass and lymphadenopathy, and intravenous fluids and allopurinol were started to prevent tumor lysis syndrome. Further laboratory workup showed the predominantly lymphocytic, elevated WBC count as before and a normocytic anemia, hemoglobin 10.6 g/dL. Smudge cells were present on the peripheral blood smear. Iron studies, B12, and folate were normal. Flow cytometry was pending ( and ).
CT chest showed lymphadenopathy of the mediastinum, right hilum, bilateral axilla, submental, and supraclavicular lymph nodes. Consolidative and ground glass opacities were also present in the bilateral lung fields ().
Partially confluent retroperitoneal, mesenteric, pelvic, and inguinal lymphadenopathy were noted on CT abdomen and pelvis. These findings were consistent with known CLL.
In addition to CLL, diagnoses considered included Richter transformation. We proceeded to obtain biopsies of the left neck mass.
Around this time outside records were received. Our patient had been treated with rituximab and chlorambucil 5 months prior after presenting with similar symptoms. She had been incidentally found with a WBC count of 40 000/mm3 several years before. She was lost to follow-up after both occasions. We started her on rituximab for treating CLL with possible Richter transformation. The tentative plan was to treat with fludarabine, cyclophosphamide, rituximab (FCR) if CLL or rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone (R-CHOP) if Richter transformation had occurred.
Flow cytometry showed a CD5+ mature B-cell lymphoma consistent with CLL, 13q deletion, and mild CD38 positivity. Over the next few days, she had improvement in her neck pain. The mass and lymph nodes decreased in size. The WBC count decreased to 40 000/mm3. Biopsy of the neck mass showed squamous cell carcinoma (SCC) with extensive necrosis involving lymphoid tissue.
With evidence of a second malignancy with possible significant oropharyngeal involvement, direct laryngoscopy with biopsy was pursued ( and ).
Direct laryngoscopy was performed and showed a large mass involving the right tonsil extending to midline of the posterior oropharynx. Biopsies were obtained. Posterior oropharynx, right tonsil, and right nasopharynx biopsy contained invasive keratinizing SCC, moderately differentiated, with basaloid features. The nasopharyngeal biopsy also included atypical lymphoid infiltrate consistent with involvement by CLL.
This patient’s case was discussed at the tumor board. Given the widespread involvement of her disease, she was diagnosed with Stage IV oropharyngeal SCC. She was not at candidate for resection and was to be treated with high-dose cisplatin (25 mg/m2) weekly for 6 cycles and radiotherapy. Treatment was to be delayed for her Rai Stage III CLL out of priority since her airway compromise was attributed to the SCC and the CLL component had been partially treated with rituximab.
At time of discharge, she had continued improvement of her symptoms. The plan was for her to follow with our medical oncology and radiation oncology teams as an outpatient. However, due to long distance from home, she established care at an outside facility. |
pmc-6481263-1 | A 10-month-old male child was placed for repair of cleft lip and palate. Following uneventful surgery under GA where Halothane was used as an inhalational agent, he developed a high fever (107°F) and right-sided focal convulsion in the recovery room. Shifted to PICU with continuing convulsions, he also developed generalized hypertonia and hematuria along with decreasing urine output and increasing urea and creatinine. Serum creatine phosphokinase (CPK) was 15970 U/L. Treatment was commenced with hyperhydration and cold sponging. Next day, though renal function improved, hyperthermia continued with convulsions, rising CPK (>18000) and disseminated intravascular coagulation (DIC). In the face of poor GCS and deteriorating respiratory pattern, he was intubated and put on mechanical ventilation. Multiple units of FFP, platelet, and PRBC were transfused. Following 7 days of mechanical ventilation, he was extubated, only to be reintubated 2 days later, owing to secondary sepsis and profuse pulmonary hemorrhage and was again ventilated for 14 days (). Following extubation, he improved gradually but had severe developmental regression. MRI brain revealed multiple infarcts in the brain (). On follow up he gained his milestones up to a certain extent but was still having a global delay. |
pmc-6481263-2 | A 1-year-old male child was admitted for definitive repair of Hirschsprung's disease with a colostomy already in place since the neonatal period. The child underwent routine investigations and was operated under GA with Halothane, but the operation was unsuccessful. In the recovery room, just after 25 minutes of completion of the surgery, he developed high-grade temperature (105.8° F) followed by one episode of GTCS and was immediately shifted to PICU. He developed refractory status epilepticus with the irregular respiratory pattern, generalized hypertonia, after that to protect airway he was intubated and ventilated. Keeping the possibility of malignant hyperthermia in mind, relevant investigations were sent. He was loaded with multiple antiepileptic drugs, all possible neuroprotective strategies were taken, in spite of that repeated episodes of convulsion continued, and he succumbed to death after the third cardiac arrest after 14 hours of PICU admission. Blood reports revealed a CPK 16400 U/L, serum potassium 7 mEq/L, serum calcium mg/dL, with metabolic acidosis in the blood gas (pH 7.19, PCO2 55 mm Hg, HCO3 10 mEq/L). |
pmc-6481263-3 | A two-year six months-old male child underwent corrective surgery for developmental dysplasia of the hip. After the corrective surgery when the plastering of the limbs was being done in the operation theater he started having high spikes of temperature (106.6°F) followed by tachycardia, tachypnea, convulsions, and muscular rigidity. He was shifted to PICU, put on mechanical ventilation and emergency supportive management was started. Serum CPK came out to be 15200 U/L along with hyperkalemia and metabolic acidosis (pH 7.15, PCO2 60 mm Hg, HCO3 11 mEq/L). Hyperhydration with rapid correction of electrolyte and the acid–base balance was done. Whole body cooling was started with ice packs and cold saline infusion. The baby responded to treatment and was extubated after 48 hours of mechanical ventilation. |
pmc-6482026-1 | A 74-year-old man was hospitalized with the diagnosis of non–ST-elevation myocardial infarction. Diagnostic coronary angiography showed 100% stenosis of left anterior descending (LAD) artery with retrograde flow to the RCA and 80% stenosis in obtuse marginal branch of the left circumflex artery. During the right coronary angiogram in right anterior oblique position, to confirm RCA occlusion, a coronary artery dissection extending into the proximal ascending aorta was noticed without hemodynamic compromise. (
,
). Transthoracic echocardiography demonstrated no pericardial effusion. Immediate computed tomographic angiography showed no evidence of dissection in the ascending aorta (
). The initial and subsequent echocardiogram examinations showed no pericardial effusion or dissection flap. Because the patient was stable with an intact aortic valve and aorta, we decided to pursue a conservative management strategy. Coronary artery bypass surgery was planned for his coronary lesions. A saphenous vein graft to the obtuse marginal branch of the circumflex artery and a left internal thoracic artery to the LAD coronary artery were performed. There was no evidence of the dissection in the aorta (
). The patient tolerated the surgery well and was discharged 10 days later. |
pmc-6482042-1 | A 70-year-old man was emergently referred to the Cardiac Surgery Department due to a confirmed diagnosis of acute IE. The patient had a previous clinical history of arterial hypertension and atrial fibrillation. He had two previous cardiac surgery procedures. He underwent, 10 years ago, a full aortic root replacement with a composite graft (Dacron graft with mechanical valve, Bentall-De Bono procedure) associated with triple coronary bypass (IMA to anterior descending artery and vein grafts to intermediate branch and posterior descending artery).
The second procedure was performed 6 months before the current episode, when the patient suffered from a native mitral valve IE episode (
Staphylococcus epidermidis
). He was admitted in cardiogenic shock with confirmed endocarditic involvement of the mitral valve. The critical preoperative status did not permit a preoperative angiogram. No signs of myocardial ischemia were present, so the patient underwent an emergent mitral valve replacement by a mechanical prosthesis performed through a right thoracotomy approach, to avoid possible complications related to the previous coronary grafts. The postoperative course was uneventful, and the patient was discharged home after completing 6 weeks of intravenous antibiotic treatment with daptomycin and rifampicin.
The current episode started when the patient was readmitted to our institution in a critical clinical state, with congestive heart failure and sepsis. The patient presented with persistent fever, dyspnea, orthopnea, and paroxysmal nocturnal dyspnea. On physical examination, no peripheral stigmata of endocarditis were found. A diastolic murmur was heard along the left sternal border. Three blood cultures were positive for
Staphylococcus aureus
. Antibiotic treatment was initiated with intravenous oxacillin, rifampicin, and gentamicin. Complete imaging studies were conducted.
Transesophageal echocardiography revealed a mitral peri-prosthetic leak that caused severe mitral valve regurgitation. There were vegetations on both the aortic and mitral prosthetic valves. Annular involvement was diagnosed, with the presence of a large perivalvular aortic abscess (
).
The coronary angiography showed atherosclerotic coronary disease of the anterior descending and distal circumflex arteries. All the previous bypasses were not patent. It was not possible to selectively make an injection in the previous vein grafts. Comparison with the previous angiogram was impossible, as no coronary angiography was performed for the previous mitral IE surgery due to the urgency of the intervention.
A preoperative thoracic computed tomographic (CT) scan was performed, which revealed a huge collection of unknown origin in the anterior mediastinal space (100 × 55 × 75 mm), adjacent to the Dacron composite graft, in its anterior aspect, and in close contact with the thoracic wall (
). This was a clearly delimited collection, with dense and heterogeneous content. As there were no images of flow of contrast inside this collection, it was suspected to be purulent material. Soft tissue attenuation was described around the mechanical aortic valve, suggestive of active IE. After a period of stabilization (13 days) and antibiotic therapy, the patient underwent surgery.
Before opening the sternum, because of the suspected high risk of rupture, arterial cannulation was performed in the axillary artery and venous cannulation in the femoral vein. Cardiopulmonary bypass and hypothermia were established. During the sternal opening, a massive acute bleeding occurred. The bleeding was partially controlled by occlusion of the bleeding point by digital pressure through the partially opened sternum. After completing the sternal opening, the site of bleeding was identified. It was caused by the complete detachment from the aorta of the previous vein graft anastomosis, due to endocarditic involvement. The institution of cardiopulmonary bypass before sternal opening allowed the medical team to maintain a stable hemodynamic situation, and the bleeding site was controlled.
All the affected tissues were excised, including debridement of all infected and necrotic regions. The patient underwent a mitral valve replacement and a full root replacement with a mechanical composite graft (Medtronic Inc.). It was not possible to mobilize the native coronary ostia because of the firm adhesions due to the previous surgeries and the severe IE, so the new Bentall-De Bono procedure was performed with the Cabrol modification,
with an 8-mm Dacron graft. As there was no critical ischemic heart disease in the preoperative checkup, no new coronary bypasses were constructed. Despite the prolonged aortic cross clamp time (206 minutes) and pump time (300 minutes), no temporary circulatory support was necessary. The patient was transferred to the intensive care unit in a stable hemodynamic situation, with low-dose inotropic drugs and good perfusion.
During the first 24 hours after the intervention, it was possible to reduce the dose of inotropic support because of the stable hemodynamic state of the patient. Unfortunately, on the second postoperative day, the patient had fever and worsening of infectious parameters. The patient suffered from an episode of septic shock due to
Klebsiella pneumoniae
(Carbapenemases producer) that triggered multiorgan failure with acute renal failure, coagulopathy due to low flow hepatic failure, intestinal ischemia, and respiratory involvement. He died due to an acute multifactorial etiology shock refractory to medical treatment. |
pmc-6482159-1 | A 51-year-old woman was hospitalized for the occurrence of two bilateral painful skin ulcers with undermined, erythematous-violaceous edges in the mammary region, which had begun 6 months before and had rapidly developed from pustular lesions (). The skin lesions were refractory to antiseptic and antibiotic therapies which had been administered in another dermatology department.
Skin biopsy showed a dermal-hypodermal neutrophilic infiltrate, suggesting PG (). Laboratory work-up ruled out any underlying inflammatory condition. Pulse-therapy with intravenous methylprednisolone 125 mg daily for 5 consecutive days was given with clinical improvement, followed and followed by prednisone at progressively tapering dosages in combination with cyclosporine 300 mg daily, inducing progressive healing of the lesions (). During hospitalization, chest computerized tomography revealed a multinodular goiter. Neck US disclosed a 12.4 mm solid hypoechoic nodule in the upper pole of the left thyroid lobe, and another 8.5 mm hypoechoic nodule in the lower pole of the same lobe. Fine-needle aspiration (FNA) of the dominant nodule was performed, and the cytological exam resulted in Tir4 category according to 2014 SIAPEC (Società Italiana di Anatomia Patologica) classification, equivalent to “suspicious for thyroid carcinoma” (). A total thyroidectomy was performed, and the histological examination was consistent with multicentric classical PTC, with focal extension to extra-thyroidal soft tissues and surgical resection margins. Histopathologic stadium was pT3(m)Nx according to AJCC (American Joint Committee on Cancer) TNM VII Edition Staging System ().
Postoperatively, she received radioactive iodine ablation treatment with 3700 MBq under human recombinant α-thyrotropin stimulation (Thyrogen®). The post-treatment Whole Body Scan showed no uptake outside the thyroid bed. The stimulated Tg serum value was 2.6 ng/ml.
Given these findings, the patient was classified at intermediate risk of recurrence according to 2015 ATA score system. Due to the neoplasm, cyclosporine was replaced by immunomodulating therapy with dapsone, without recurrence of skin manifestations.
As shown in , at the 6-month follow-up examination, there was no clinical, biochemical or US evidence of tumor persistence or recurrence. Serum Tg concentrations were undetectable during replacement thyroxine therapy (unstimulated Tg measured several times by an high-sensitive assay always <0.04 ng/mL) in the absence of interfering anti-Tg antibodies. However, US examination of the neck performed 12 months after thyroid surgery revealed two hard hypoechoic avascular areas with irregular margins in the thyroid bed, which measured 16 mm and 15 mm in their maximum diameter, respectively (). No suspicious lymph nodes were detected. Serum Tg levels were still undetectable, with negative anti-Tg antibodies. FNA of the two above-mentioned lesions was performed under the impression of PTC recurrence; the cytologic specimen revealed numerous neutrophils, together with scattered erythrocytes, lymphocytes, histiocytes, and few thyrocytes without cytological alterations. Gram staining as well as bacterial and mycobacterial cultures of the FNA specimen were negative. Blood exams revealed increased inflammatory markers and neutrophilia.
The clinical, biochemical and cytological clues were consistent with PG infiltration of the thyroid bed. Therefore, the patient underwent again pulse therapy with intravenous methylprednisolone under a strict US follow-up. Following steroid treatment, the two cervical lesions appeared to be dramatically reduced on neck US (with one lesion passing from 10.9 mm in maximum diameter after the first week, to 8.6 mm after 1 month; the second cervical area passed from 15 to 9.2 mm in maximum diameter at the same time points). Both lesions mentioned above were no more visible after 10 months () confirming thyroid bed involvement by PG. |
pmc-6482199-1 | A 35-year-old man presented at a local hospital with epigastric pain. Esophagogastroduodenoscopy (EGD) showed that an IVC filter strut had penetrated the third portion of the duodenum (arrow, Fig. ), and this was confirmed by computed tomography (CT) (arrow, Fig. ). In order to retrieve the IVC filter, the patient was referred to our department. He had a history of testicular cancer with para-aorta lymph node metastasis. Left renal vein thrombosis developed because of neoadjuvant chemotherapy before RPLND, and anticoagulants were administered before RPLND. Three years previously, he had undergone left orchiectomy, retro-mediastinal lymph node dissection, and RPLND at the previous hospital. The left common iliac vein was intraoperatively damaged during RPLND. Because the previous surgeon was worried about the high incidence of postoperative DVT and PTE, anticoagulant therapy was continued after RPLND. However, because DVT developed in the left common iliac vein after the initial surgery, a retrievable IVC filter (ALN, France) was placed in the IVC caudal to the renal vein to prevent PTE, and the patient had been receiving anticoagulant therapy. Because follow-up CT after IVC filter placement showed that DVT persisted at the left common iliac vein despite anticoagulant therapy, the IVC filter could not be retrieved at the previous hospital.
Enhanced CT also revealed that DVT remained in the left common iliac vein. Because ultrasound examination showed organized DVT, an IVC filter was considered unnecessary. An endovascular approach was considered unfeasible for retrieval because two of the filter struts had penetrated the duodenal wall. An extensive discussion with an internal medicine specialist was performed. Because DVT remained with no remarkable changes in CT images for 3 years and the incidence of PTE caused by DVT in the left common iliac vein would be low, we chose surgical treatment for this patient in order to prevent bleeding at the duodenum.
The IVC filter was retrieved through cavotomy, and the duodenal penetration site was repaired using intraoperative EGD clipping. The operation lasted 5 h and 54 min, and the intraoperative bleeding volume was 1172 mL. Because it was not possible to mobilize the duodenum due to adhesions resulting from the previous surgery, the IVC at the sites caudal to the renal vein could not be explored. However, a mesenteric incision caudal to the third portion of the duodenum enabled encircling and taping of the IVC (Fig. ). After clamping the IVC cranial and caudal to the duodenum, a 5-cm vertical incision was made on the IVC cranial to the duodenum and the IVC filter was retrieved (Fig. a). Although the head of the IVC filter had penetrated into the IVC intima, we were able to bluntly peel the filter head from the intima. The IVC incision was closed using a continuous 5-0 Prolene suture (arrow, Fig. b). The IVC clamping time was 22 min. Intraoperative EGD revealed no bleeding at the duodenal penetration site (Fig. ). To prevent duodenal bleeding or perforation, the penetration site was repaired by EGD clipping. Retrieved IVC filter was presented as (Fig. ). The patient did not develop any postoperative complications and was discharged on postoperative day 16. |
pmc-6482201-1 | A 49-year-old woman had a history of treatment for a cranial meningioma that was diagnosed histologically as a hemangiopericytoma two decades previously. Currently, she had no co-morbidities and no alcohol abuse, and she was negative for hepatitis B/C virus. She presented with a 1-month history of malaise of unknown cause and abdominal bloating. Analysis of serum tumor markers revealed none that were elevated, including α-fetoprotein (3.5 ng/ml), protein induced by vitamin K absence or antagonist-2 (21 mAU/ml), carbohydrase antigen 19–9 (19.2 U/ml), and carcinoembryonic antigen (0.8 ng/ml). Other parameters were within their normal ranges.
The patient underwent abdominal computed tomography (CT), which revealed a large mass involving almost the entire right lobe of the liver. It measured 14 cm in maximum diameter and was compressing the inferior vena cava (Fig. a). Contrast-enhanced CT showed marked heterogeneous enhancement in the periphery of the mass during the arterial phase (Fig. b), with the enhancement becoming centripetal and more pronounced in round unenhanced areas related to necrotic or cystic changes during the portal phase (Fig. c). It finally progressed to persistent, less heterogeneous enhancement during the delayed phase (Fig. d).
Abdominal magnetic response imaging (MRI) showed low intensity on T1-weighted images and heterogeneously high or iso intensity on T2-weighted images (Fig. a, b). Furthermore, it showed higher intensity than that of normal liver parenchyma on diffusion-weighted imaging (DWI) with a high b value of 1000 (Fig. d, e). Gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid-enhanced magnetic response imaging (EOB-MRI) revealed a hypointense mass during the hepatobiliary phase (Fig. c). [18F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) showed no accumulation of [18F]-FDG (Fig. f). Radiological evaluation found nothing to suggest the presence of a tumor mass anywhere in the body, including no cranial or spinal lesions. Gastroscopy and colonoscopy findings were normal. According to radiological examination, the preoperative diagnosis was a malignant tumor, such as scirrhous hepatocellular carcinoma (HCC), sarcomatous HCC, GIST, or hemangiosarcoma. The patient then underwent central bisegmentectomy of the liver.
Macroscopically, the maximum diameter of the tumor was 13.3 cm, and the tumor itself was firm and yellowish-white with an intact capsule. Hemorrhagic areas and horizontal intertwined fiber bundles were observed on the cut surface of the tumor (Fig. a). Microscopically, the tumorous tissue showed proliferation of oval to short spindle-shaped cells arranged in no particular pattern, accompanied by focal fibro-collagenous or myxoid stroma and a few hemangiopericytomatous branching vessels. Foci of hemorrhage and necrosis were observed. Mitotic figures were present, although rare, highlighted by hematoxylin and eosin (HE) staining [< 1/20 high-power fields (HPFs)] (Fig. b). There was no vascular or parenchymal invasion.
Immunohistochemically, the tumor cells were negative for CD34 (Fig. c) but positive for STAT6 (Fig. d) and vimentin (Fig. e). No markers of HCC (hepatocytes, glypican-3) or GIST (S100 protein, cKIT, DOG1) were conspicuous in the specimen (not shown in Fig. ). The Ki67 labeling index was < 5% (Fig. f). NAB2–STAT6 fusion gene was detected by reverse transcription-polymerase chain reaction (RT-PCR) and direct sequencing. Gel electrophoresis of PCR products identified various NAB2–STAT6 fusions with heterogeneous exon compositions in the tumor using seven primer pairs (Fig. a). Direct sequencing showed the junction breakpoint in a stretch of NAB2 intronic sequences between the 3′-end of NAB2 exon 6 and the 5′-end of STAT6 exon 16 (Fig. b). Thus, SFT of the liver was diagnosed definitively based on these histological and genetic results. The surrounding liver showed mild inflammation in the normal portal area. Following surgery, the patient recovered uneventfully. At present, 12 months postoperatively, she remains well with no evidence of tumor recurrence. |
pmc-6482231-1 | A 71-year-old woman presented bilateral gonalgia predominant on the left side and related to knee osteoarthritis for 20 years. There was a context of overweight (weight: 125 kg; height: 1.60 m; body mass index: 48.8 kg/m2). Initially, pain had “mechanical” features, occurring only while standing or walking and limiting physical activities. The diagnosis of bilateral, tri-compartmental knee osteoarthritis predominant on the left side was confirmed radiologically. However, about 4 years ago (2014), knee pain became more intense, diffuse, and permanent, even at rest. In parallel, the patient developed sleep and mood disorders. Intra-articular injections of corticosteroids and hyaluronic acid had only very modest and transient effects. Then, an attempt to use opioids was undertaken for a period of time (fentanyl transdermal patch 25–50 μg/h/day), associated with paracetamol on demand (1,000–3,000 mg/day). This treatment was also ineffective and the patient had to reduce her physical activity even more. In September 2015, her walking distance was limited to 50 m with the aid of a cane. However, X-ray examination did not reveal any aggravation of osteoarthritic lesions.
In June 2016, the patient was referred to our center. She was unable to walk and essentially restricted to wheelchair. She scored her average daily pain intensity at 9/10 on a numeric rating scale (NRS), while NRS scores for sleep disorders and fatigue were 7/10 and 6/10, respectively. Anxiety and depression scores were both 12/21 on the hospital anxiety and depression scale (HAD) (). The lequesne index of severity for osteoarthritis (LISO) score () was 20/24, corresponding to an extremely severe handicap. The LISO sub-scores were 7/8 for “pain or discomfort,” 7/8 for “maximum walking distance,” and 6/8 for “activities of daily living.” A rTMS therapeutic trial was proposed, first because total knee replacement surgery was considered too risky for the patient and then because of the clinical arguments in favor of a central sensitization phenomenon. Actually, pain was no more strictly related to joint mobilization, but rather permanent, even present at rest. In addition, pain showed an expanded distribution outside the primarily affected knee joint on the left, as evidenced on pain drawings (). This is known to be a reliable way for identifying the occurrence of a central sensitization phenomenon in the context of knee osteoarthritis (). There were also burning and tingling sensations, as well as mechanical allodynia and hyperalgesia (but no wind-up phenomenon) in the area of referred pain on the left side. Pain had neuropathic characteristics, as evidenced by a score of 6/10 for the DN4 questionnaire (). A more ambiguous result was observed for the modified painDETECT questionnaire (mPDQ) (), with a score of 13/38, which is the gray zone between improbable neuropathic pain (score < 12) and highly probable neuropathic pain (score > 19). Nevertheless, this mPDQ score was compatible with a central sensitization phenomenon, as the cut-off score was set at > 12 in a recent study of patients with knee osteoarthritis (). This was further confirmed on the central sensitization inventory (CSI) (), which assesses both somatic and emotional complaints related to central sensitization and was validated in the context of knee osteoarthritis (). On a short version of the CSI (), the patient had an initial score of 20/36 corresponding to moderate/severe central sensitization. In addition, sleep and mood disorders were in the foreground of the clinical picture and no clear worsening of arthritic lesions was observed on X-ray examination. Conversely, on the right side, pain had lower intensity (≤4/10), with only “mechanical” features limited to knee joint.
A rTMS protocol was applied as for the treatment of focal neuropathic pain (). The stimulation was delivered over the motor cortex contralateral to the predominant painful region, i.e., right motor cortex stimulation to treat left knee pain. The stimulation parameters for one session were as follows: 20 trains of 70 rTMS pulses delivered at high frequency of 10 Hz (train duration: 7 s; inter-train duration: 55 s), i.e., 1,400 pulses for a session lasting about 20 min. The stimulation intensity was set at 80% of the resting motor threshold, which was determined in a conventional way by means of motor evoked potential recording (). One rTMS session was performed each month. Assessment was performed during the week after each session (pain, sleep, fatigue) and after the 10th session for all variables, including DN4, mPDQ, CSI, HAD, and LISO.
Pain intensity began to decrease in the week following the third rTMS session, but more clearly after the sixth rTMS session (from 9/10 before to 3/10, 67% improvement) (). After 10 sessions, pain was no longer permanent and only occurred when the patient was rising from a sitting position and for walking distance longer than 200 m. Burning sensations, as well as mechanical allodynia and hyperalgesia, disappeared at the left knee. Neuropathic pain scores decreased by 67% (DN4, from 6 to 2/10) to 85% (mPDQ, from 13 to 2/38), and the CSI score by 70% (from 20 to 6/36). Thus, at this stage, pain could no longer be considered neuropathic and central sensitization was absent or at most subclinical (). Conversely, pain intensity did not change on the right side.
After the 10th session compared to baseline, sleep disorders (NRS score) also improved by 57% (from 7 to 3/10), fatigue (NRS score) by 67% (from 6 to 2/10), anxiety (HAD score) by 50% (from 12 to 6/21), depression (HAD score) by 42% (from 12 to 7/21), and handicap (LISO score) by 40% (from 20 to 12/24). The LISO sub-scores improved by 71% for “pain or discomfort” (from 7 to 2/8), 14% for “maximum walking distance” (from 7 to 6/8), and 33% for “activities of daily living” (from 6 to 4/8). Analgesic medications were stopped gradually from 3 to 4 months after rTMS therapy initiation to be completely withdrawn at 7 months (after the seventh rTMS session). At this time, body mass index was 48.0 kg/m2 and returned to its baseline value (48.8 kg/m2) at 10 months. Pain remains fully controlled to date by monthly rTMS sessions. A written informed consent was obtained from the patient for the publication of this case report. |
pmc-6482239-1 | A neutered, male, 6-year-old Yorkshire Terrier weighing 1.76 kg was referred to the Animal Medical Center (AMC) at the Tokyo University of Agriculture and Technology with pericardial effusion of modified transudate. Recurrent effusion could not be controlled with standard treatment including antibiotics and steroids at a primary veterinary clinic. |
pmc-6482258-1 | A 2 years and 7 months old boy was referred to our hospital with recurrent hypoglycemia and seizure for more than 2 years.
The infant was G1P1, a full-term baby, with a birth weight of 3.6 kg. The neonate experienced two episodes of hypoglycemic convulsions on days 5 and 13 and was therefore admitted to the neonatal intensive care unit (ICU). From 6 months old to 28 months old, the infant was hospitalized many times because of recurrent hypoglycemia (his blood glucose value range 0.1–1.3 mmol/L) and convulsions, which occurred because of fever, low calorific intake and diarrhea.
At the age of 2 years and 7 months, the patient was referred to our hospital because of recurrent hypoglycemic convulsions for more than 2 years. On initial physical examination, the patient weighed 16.6 kg (≥P97) and was 103 cm long (≥P97). He showed decreased activity and weakness, with special appearance (hypertelorism, narrow palpebral fissures, epicanthus, low-set ears, auricular malformation, and transverse palmar crease in right hand). The boy had normal IQ. No disturbances in the neuro-psycho-motor development. Jaundice appeared on the fourth day after birth. Total bilirubin (316.6 μmol/L) was tested on the 6th day, indirect bilirubin (303.9 μmol/L) was dominate. Jaundice gradually declined after intermittent phototherapy and completely disappeared on day 19. No signs of liver disease.
Laboratory investigations revealed low plasma cortisol and ACTH concentrations. There was no obvious circadian rhythm of ACTH and cortisol levels. An ACTH test was failed to stimulate the production of cortisol. The thyroid function tests, kidney function, and electrolytes were all normal. Except thyroid-stimulating hormone (TSH), the anterior pituitary hormone concentrations were normal (). The blood sugar was normal under non-stress condition with continuous glucose monitoring system (range 4.7 ± 0.6 mmol/L). Based on the profile of the hormonal and clinical characteristics, CIAD was suspected.
Written informed consent was obtained from the patient's legal guardians to perform genetic analysis, publish the manuscript and fully explain the purpose and nature of all the procedures used. Data of next generation sequencing showed two novel heterozygous variations (c.205C>T (p.R69W) in exon 2 and a large fragment deletion). Molecular analysis revealed that c.205C>T was inherited from mother and fragment deletion (from g.168,247,374 to g.168,278,264) was inherited from father. c.205C>T was confirmed by Sanger sequencing (). The fragment deletion (from g.168,247,374 to g.168,278,264), including exon 2 to exon 8, was confirmed using quantitative real-time (qPCR) (). Karyotype and gene copy number variation screening were normal.
The patient was treated with hydrocortisone supplementation with total daily dose of 15 mg/m2.d given three times a day. He was discharged home and with treatment of hydrocortisone replacement therapy for life-span. On the final examination, his weight was 17.9 kg (P90-P97) and length was 107 cm (P90–P97). After treatment with hydrocortisone over 1 year and 8 months, the height of boy is less than P75. Insulin-like growth factor 1 (IGF1) was measured (153 ng/mL), which is in the normal range (50–286 ng/mL). Although his level of cortisol was up-regulated to the normal level and showed a regular circadian rhythm, there was still no obvious circadian rhythm of ACTH. Without treatment with thyroid hormone, increased levels of TSH also returned to the reference range (). Compared with the first initial examination, the infant had more energy for normal activities.
The patient has continued to follow-up with the pediatric clinic and continues to show significant improvement, i.e., no more seizures or hypoglycemic episodes have occurred. He is now under the care of his local pediatricians. |
pmc-6482499-1 | The second child (Fig. ) of a 29-year-old woman was spontaneously born at 39 + 4 weeks of gestation after an unremarkable pregnancy. Birth weight was 3510 g (50th percentile), length 55 cm (75th percentile) and head circumference 33.5 cm (20th percentile). Apgar scores were 9/10/10. At the age of 3 months the girl was seen by a general pediatrician and consecutively referred to our hospital because of a recently developed mass on the left temple. The subcutaneous swelling was about 2 cm in diameter, non-moveable, not reddish or overheated and not painful. Furthermore, the mother reported recurrent fever spikes up to 38.5 °C without signs of inflammation for about 4 weeks. Defecation and drinking habits were adequate, vomiting was denied. However, a weight loss of 200 g within 3 weeks was obvious. In addition to a pale skin color and three pinhead-large livid subcutaneous lesions located on the trunk and the lower extremities, there was a left-sided rib hump situated at the level of Th6 to Th10; a secondary finding was oral candidiasis. Laboratory values on admission showed: hemoglobin 85 g/l, hematocrit 0.24 L/l, thrombocytes 380 G/l, lactate dehydrogenase 308 U/l, alpha-1-fetoprotein 225.6 ng/ml, beta-human chorionic gonadotropin < 1 mU/ml, c-reactive protein 10.13 mg/dl, interleukin-6 45.8 pg/ml and procalcitonin 0.31 ng/ml. To define the extent of disease, whole-body magnetic resonance imaging (MRI) (Fig. ) was performed. An intraosseous soft tissue lesion in the left sphenoid bone (diameter 18 × 20 mm), a big paravertebral thoracic tumor conglomerate (diameter 85 × 59 mm), multiple papules to nodules in the liver (7 mm), in both kidneys (6 mm) and lungs (3 × 4.3 mm) and in the pancreatic head (3.5 mm), as well as cutaneous (5 mm) and intraosseous lesions were found. A vertebra plana of Th9, together with infiltration of the adjacent Th8 and Th10, resulting in a kinking of the spinal column compromising the spinal canal and obliteration of nerve roots by soft tissue tumor mass was seen. Due to the lesion in the skull and the vertebra plana, Langerhans cell histiocytosis was one of the primary differential diagnoses. But the histology of one cutaneous lesion of the trunk did not confirm this diagnosis. Rapid deterioration with paraplegia prompted us to administer immunosuppressive treatment immediately. Based on the presumed diagnosis of a neoplasia of the Ewing / PNET group the patient was initially treated according to the Euro-Ewing protocol. After the third biopsy and histological examination two independent pathology centers confirmed the diagnosis of xanthosiderohistiocytosis, which is not well-defined and is regarded as a morphologic variant of xanthoma disseminatum – a type that most often occurs in adult patients with monoclonal gammopathy (Fig. ). In keeping with the established diagnosis, Langerhans cell histiocytosis-based chemotherapy treatment was administered. Following the arm for the high-risk group, the chemotherapy agents included prednisone, vinblastine, 6-mercaptopurine and methotrexate. With this therapy the primary tumor mass decreased. Clinical and radiologic examinations at the age of 3 years show partial remission after 1 year maintenance chemotherapy with puri-nethol and methotrexate. |
pmc-6482511-1 | A 10-year-old boy (weight, 32.1 kg; height, 138.7 cm) in Sichuan province was admitted to the hospital with neurological symptoms of headache, dizziness and vomiting for one day. Physical examination showed left facial paralysis and no rash. His temperature is 36.5 °C, breath is 21 times per minute, pulse is 109 beats per minute, and the blood pressure is 103/72 mmHg. Additionally, he had no previous history of infection for these days.
According to the general medical tests, we found the percentage of neutrophil in peripheral blood increased to a number of 85.2% (reference range 23.6–75%), which suggests the presence of inflammation. In addition, we punctured cerebrospinal fluid for accurate examination. The CSF biochemical examination showed that the protein (136.8 mg/L), glucose (3.85 mmol/L), chloride (127 mmol/L) and lactate dehydrogenase (12 U/L) were all in the reference range. The cerebrospinal fluid cytology (CSFC) tests showed that the CSF was colorless and transparent, containing 25 × 106/L nucleated cells and 13× 106/L erythrocytes. Among the nucleated cells, lymphocytes and monocytes account for 98 and 2% respectively. These results indicated the presence of infectious encephalitis. However, the ink staining, gram staining and acid fast staining of CSF were all negative. Besides the bacteria culture of CSF for 5 days was negative as well. Therefore, the child was suspected to have acute viral encephalitis.
The pathogenesis of acute viral encephalitis involves a variety of viruses. Due to the small volume of CSF in children, the diagnosis of encephalitis related pathogens in CSF is very difficult, especially when the clinical symptoms are not obvious. In this case, we firstly test the IgM and IgG antibodies of herpes simplex virus (HSV), because HSV is the main virus that causes viral encephalitis [, ]. The results of electrochemical luminescence test showed that both antibodies were negative. Therefore, HSV infection was excluded and further experiments were needed to determine the etiology of encephalitis.
Advanced fragment analysis (AFA) is a molecular technique, which provides an alternative method for high-throughput multiplexed quantitative pathogens related gene expression. AFA integrates multiplex PCR and capillary electrophoresis to offer a simple and effective way to analyze dozens of specific genes in a single tube []. In this experiment, 300 μl CSF was used for total DNA and RNA extraction (ZD Biotech, China). 18 kinds of common encephalitis related pathogens can be detected at same time, including enterovirus (EV), Cryptococcus neoformans (CN), neisseria meningitidis (NM), Streptococcus pneumoniae (SP), epstein-barr virus (EBV), varicella-zoster virus (VZV), cytomegalovirus (HCMV), tuberculosis (TB), herpes simplex virus-1 (HSV-1), herpes simplex virus-2 (HSV-2), mycoplasma pneumoniae (MP), Escherichia coli (E.Coli), Listeria monocytogenes (LM), group B streptococcal (GBS), mumps virus (MuV), human herpes virus-6 (HHV-6), Haemophilus influenzae (HI) and acinetobacter baumannii (A.B) (Fig. ). Briefly, for the multiplex PCR, we put 4.5 μl PCR Mix, 0.5 μl enzyme and 5 μl nucleic acid together (Health Gene Technologies, China). All reactions were run on an ABI 7500 real-time PCR system (Life Technologies, CA, USA) using the following cycling parameters: 25 °C for 5 min; 50 °C for 30 min; 95 °C for 15 min; 6 cycles of 94 °C for 30 s, 65–60 °C for 30 s and 72 °C for 60 s; 29 cycles of 94 °C for 30 s, 60 °C for 30 s and 72 °C for 60 s; and a final elongation step of 72 °C for 15 min. For capillary electrophoresis, the SIZE-500 Plus dissolved in Hi-Di formamide was used as the DNA size maker. All reactions were run on 3500Dx (Life Technologies, CA, USA) and the cutoff value is set to 500. Different sizes of PCR fragments represent different pathogens. With the AFA technology, the turn-around time is greatly reduced to 4 h, which is conductive to rapid diagnosis, timely treatment and prognosis of the encephalitis.
Subsequent advanced fragment analysis of the pathogens gene suggested the presence of VZV infection as we found a fragment peak at 160 bp of capillary electrophoresis (Fig. a). It is worth mentioning that the child initially presented with left facial paralysis, but did not appear chicken pox. We know that primary infection with the VZV usually manifests with chickenpox, however reactivation of VZV can present with different clinical manifestations. Reactivation of VZV from the geniculate ganglion, the nucleus of the sensory root of the facial nerve, can cause peripheral facial weakness as well as rash around the ear, known as Ramsay Hunt syndrome []. Therefore, even if the patient’s parents denied that the child has a history of chickenpox infection, the child may have latent VZV infection in the genicular ganglion in the past. To verify the above results, on subsequent real-time fluorescence quantitative PCR was used to detect the VZV DNA in both CSF and serum samples using commercial kits at the time of acute disease (Sansure Biotech, China). Briefly, 10 μl of extracted DNA was amplified with PCR super mix reagent in 25 μl reaction volume for 35 cycles using the Life PCR System ABI 7500 (Life Technologies, CA, USA). Results were considered positive when a clear amplification curve of the expected site was obtained (Ct < 40). Consistent with the previous results, VZV DNA was detected in both CSF and serum (Fig. b). As shown in Fig. b, peripheral blood showed high viral load during the acute stage of the disease, though the viral load is less in the cerebrospinal fluid (CSF). Therefore, it is proved that the AFA technology is efficient and fast in detection the etiology of encephalitis.
Taken together, this report outlines the potential difficulties in differentiating and diagnoses pathogens in patients with encephalitis, which has particularly important implications for patient segregation and infection treatment. Our study might be of great importance to explore the application of the AFA technology in clinical diagnosis of encephalitis related pathogens in CSF. Still now, only a few isolated cases of VZV associated encephalitis have been reported. |
pmc-6482534-1 | A 5-year-old Chinese girl who had exhibited sensory exotropia in her right eye for 2 years and had been losing her vision for 6 months was referred to our department. There was no history of postnatal asphyxia and no family history of tumors, or other ocular disorders. A general examination of the child revealed no other abnormalities. On examination, the visual acuity in the right eye revealed no light perception and an intraocular pressure of 7 mmHg. The anterior chamber reaction and pigment cells in the vitreous were observed. A fundus examination showed a large, yellowish-white, elevated, subretinal mass lesion in front of and inferior to the disc that showed hemi-inferior-quadrant retinal detachment (Fig. a). The retina was greyish-yellow with scattered yellow spots. Examination of the left eye showed no abnormalities. B-scan ultrasonography and fluorescein angiography (FA) of the right eye revealed an intraocular solid mass located in front of the disc (Fig. b). The mass measured 11.0 mm in diameter and had moderate-to-high internal reflectivity, a distinctive border and no calcification on B-scan ultrasonography. Fundus fluorescein angiography showed double circulation and mottled fluorescence on the mass, with no obvious leakage (Fig. c). Computed tomography of the orbit revealed a semi-round, slightly high-density shadow with a CT value of approximately 46 Hu (Fig. d). Then, a vitreous biopsy for tumor cells produced negative results. After 9 months, the parents of the child agreed to further diagnosis and treatment, and a vitrectomy with lensectomy and neoplasm resection with silicone oil tamponade were performed to achieve a histopathological examination. The tough mass had a distinctive border and no obvious capsule and showed no involvement of the extraocular muscles, optic nerve or orbital tissues. Histopathologic examination of the intraocular mass revealed a GCT (Fig. e). The tumor cells were positive for CD68, NSE, S-100 (Fig. f), and CD163 expression but negative for GFAP, Syn, and CD123 expression. The Ki-67 index was 1%, which strongly suggested that this tumor was benign. At the last follow-up, which was performed more than 2 years after the first visit, no GCT recurrence was noted and the right eye remained stable, but with permanent blindness eventually. |
pmc-6482547-1 | The patient in this case report (Additional file : Figure S1), is a 62-year-old woman with a 35-pack year smoking history, who presented with an enlarging, non-tender right neck mass, hoarseness and a twenty-pound weight loss. The initial differential included primary head and neck cancer versus metastatic disease. A subsequent neck biopsy reveled adenocarcinoma consistent with primary lung disease (Fig. a): found to be positive for thyroid transcription factor 1 (TTF-1) and negative for p40 and thyroglobulin (Fig. b).
Molecular studies of the patient’s biopsy were ordered. Wild type EGFR and no ALK or ROS1 rearrangements were detected, precluding the patient from targeted tyrosine kinase inhibitors. However, immunohistochemical (IHC) staining indicated that 80% of the patient’s tumor cells expressed PD-L1 (Fig. c), predicting a favorable response to immune checkpoint inhibition (Fig. ; Additional file : Table S1) [, , ]. The patient was started on a three-week cycle of 200 mg pembrolizumab.
The primary mass on baseline staging was a 17 × 13 mm left upper lobe lesion consistent with primary lung cancer as well as multiple positron emission tomography (PET) avid lesions. PET/computed tomography (PET/CT) imaging for staging revealed multi-station mediastinal adenopathy, the right paratracheal region, the pre-carinal region, the right neck and the aortopulmonary window; left hilar adenopathy was also seen, and a single splenic lesion was also identified (Fig. d). The patient was therefore diagnosed with stage IV lung cancer (cT1aN3M1b).
The patient responded well to pembrolizumab and significant reduction in tumor burden was observed within ten weeks. Imaging showed reduction in size of the left upper lobe mass, the mediastinal lymphadenopathy and a reduction in the size of the splenic mass: collectively consistent with treatment effect for metastatic disease (Fig. a). Of note, after nine weeks of treatment, the patient’s thyroid function dropped precipitously, and the patient was diagnosed with hypothyroidism secondary to immunotherapy, necessitating levothyroxine treatment.
Regrettably, the patient experienced a second, more serious irAE, in the form enteritis, presenting in a clinically atypical form, without diarrhea. Constipation and abdominal discomfort developed around week eight of treatment. At that time, the patient presented to the direct referral unit at our center and imaging showed possible partial small bowel obstruction. The patient was hydrated and treated with metoclopramide; she declined an NG tube. Furthermore, she declined hospital admission. She progressively started to feel better for another four to five days after this discharge. An outpatient gastroenterology referral was placed, which the patient did not follow-up on.
The symptoms worsened significantly after the week ten-treatment cycle of pembrolizumab, forcing the patient to seek emergent medical care. The patient presented to the emergency department with anorexia, worsening continuous abdominal pain, nausea, vomiting and tachycardia, lasting for about ten days. On physical examination, the patient had involuntary guarding and rebound tenderness in the lower abdominal quadrants. Laboratory results indicated an elevated total white blood cell (WBC) count of 15.1. CT imaging with contrast of the abdomen and pelvis showed signs concerning for mural thickening of the proximal to mid jejunum, in the area of the mid pelvic cavity, with mucosal and submucosal edema and enhancement, concerning for a target sign and suggestive of ischemic etiology. Additionally, the patient had a cluster of mesenteric vessels concerning for mesenteric volvulus or internal hernia in the midline region of the pelvic cavity (Fig. b). Several small foci of non-dependent extraluminal air adjacent to the bowel and a trace amount of free fluid were detected (Fig. c).
Exploratory laparotomy revealed one liter of purulent ascites. Part of the ileum was extremely erythematous and signs of perforation with significant inflammatory changes were evident. The concerning part of the small bowel was resected, and a primary anastomosis was created. The cecum, ascending colon, transverse, descending colon, sigmoid and rectum were without signs of injury. Surgical pathology of the resected portion of the small bowel showed focal, nonspecific, mesentery, non-caseating granulomatous inflammation, negative for tumor (Fig. a). Other commonly cited features were partially appreciated: there was indeed a lack of prominent intra-epithelial lymphocytes and crypt rupture; however, lamina propira expansion and villous blunting was not prominent [].
Mesenteric vessels were negative for vasculitis and thromboembolism (Fig. b). Trichrome stain demonstrated loss of outer muscular wall due to ischemia and inflammation (Fig. c). Based on the pathological and surgical findings, the patient was diagnosed with pembrolizumab-associated small bowel perforation. Anti-TNF-α medications were not an appropriate treatment option due to fact that perforation of the bowel had occurred []. The patient recovered well from surgery. After extensive discussions, and with consideration of the patient’s remarkable response to treatment and the fact that she was resuming working full time and preferred to avoid chemotherapeutic side effects, the decision was made to resume pembrolizumab. Immunotherapy was restarted on post-operative day twenty-eight. Currently, twelve months since the start of treatment, the patient is continuing her immunotherapy with ongoing partial response and is able to continue her full-time job. |
pmc-6482549-1 | A 51-year-old woman who presented with diarrhoea containing mucus and blood had initially been diagnosed with acute severe ulcerative pan-colitis and backwash ileitis at the age of 49 years at Peking Union Medical College Hospital (PUMCH) in December 2014. She had poliomyelitis when she was very young, and there was nothing special regarding her family or psychosocial history. Serology was positive for perinuclear antineutrophil cytoplasmic antibody (pANCA) and negative for anti-Saccharomyces cerevisiae antibody (ASCA). Her condition was refractory to steroids and complicated by Cytomegalovirus (CMV) infection. Ultimately, she underwent sub-total colectomy and ileostomy in February 2015. Pathological examination of the resection specimen showed diffuse pan-colitis consistent with UC and no indications of Crohn’s disease (Fig. ). She did well in the following 11 months; prednisone was tapered and stopped within 2 months, and she gained 5 kg of weight after the ileostomy. In January 2016, a scheduled restorative ileal pouch-anal anastomosis (IPAA) with proximal neo-ileostomy was performed.
From one month after the IPAA, her 24-h stool collection slowly increased to 1.5–2 L. Next, she noticed decreased urine output since April. In early May 2016, she presented to our emergency room with repeated unconsciousness over the course of 10 days. Her vital signs were as follows: blood pressure (BP), 74/50 mmHg; heart rate (HR), 90 bpm; additionally, she exhibited a poor nutritional status (160 cm; 39 kg). On physical examination, active bowel sounds were noticed to occur approximately 7–9 times per minute. Her serum creatinine level was 183 μmol/L, indicating acute kidney injury. Treatment with fluid replacement and noradrenaline maintained her BP at 80–90/50–60 mmHg and gradually normalized her creatinine level. However, her 24-h watery stool collection persisted, and she developed fever and vomiting. While many leukocytes were found in stool collected from the diverted ileostomy, repeated stool cultures and tests for Clostridium difficile toxins were negative. Tests for CMV-DNA, CMV-pp65 and EBV-DNA were performed and were all negative. The patient was not on any medications, including NSAIDs, upon verification. Her treatment with steroids was stopped before the end of April 2015. Empirical treatment with antibiotics, including ceftazidime, metronidazole and oral vancomycin, was administered with no response. Due to her reliance on noradrenaline, relative adrenal insufficiency was suspected, and hydrocortisone was initiated at 50 mg q6 h intravenously. Her stool volume decreased to less than 500 ml per day quickly, by which time the treatment with noradrenaline was successfully stopped. The levels of D-lactate, endotoxin and diamine oxidase indicated that the barrier function of the intestine was compromised and that bacterial translocation may have occurred. Oedematous inflamed mucosa with patchy superficial ulcers was observed in the diverted pouch by pouchoscopy. Although an upper endoscopy and an endoscopy through a stoma revealed a normal gross appearance in the stomach, duodenum and pre-stomal ileum (Fig. a, b), the histological examination of tissue biopsies of both the duodenum and pre-stomal ileum revealed enteritis, as indicated by moderate villous atrophy, cryptitis, decreased goblet cells, and severe active inflammation with neutrophil infiltration in the lamina propria, as well as negativity for intraepithelial lymphocytosis (Fig. a-d). From these lines of evidence of histological enteritis presenting in the duodenum, pre-stomal ileum and diverted pouch, we considered pan-enteritis to be present, and we diagnosed the patient with post-colectomy enteritis. The patient was treated with methylprednisolone at 30 mg intravenously once a day with tapering by 5 mg every 7 to 10 days; however, her stool volume from the ileostomy still gradually increased to 3–4 L. After a multidisciplinary team discussion, ileostomy closure was debated as the final rescue treatment and was performed in August 2016. Two months later, her stool volume decreased to less than 1 L per day, and she gained 2.5 kg of weight. Azathioprine at 50 mg/d was prescribed during the tapering of prednisone. Until the last follow-up in March 2018, she performed well, with an increase in body weight to 50 kg, and daily defecation approximately 5–6 times at less than 1 L/day, sometimes with form (Additional file ). Gastroduodenal endoscopy and pouchoscopy were repeated annually and showed normal villi in the descending duodenum and neo-ileum in March 2018 (Fig. c, d). Gradually, the histology changed, showing recovery of the villous atrophy, cryptitis and inflammation in the lamina propria to normal (Fig. e-f). |
pmc-6482561-1 | A 49-year-old man with a history of acromegaly was admitted to our hospital with the concern of recurrent shortness of breath and dyspnea on exertion during the previous 2 years, and he had experienced an episode of presyncope 2 weeks prior without any further evaluation. He was a chef in a local restaurant for almost 30 years. He had no family history of any diseases and no past history of hypertension, diabetes mellitus, sleep apnea, or sudden cardiac death. He did not smoke or consume alcohol. The patient provided a history of stereotactic radiosurgeries twice in a decade or so and adherence to treatment with a somatostatin analog (octreotide given 40 mg once per month through intramuscular injection) at the time of diagnosis 20 years before. The patient was overweight and moderately nourished. He was 1.85 m (73 inches) tall, weighed 134 kg, and had a body mass index of 39 kg/m2. His blood pressure was 110/60 mmHg, and his heart rate was 92 beats/min with sinus rhythm. He had distinct skeletal features that included prominent superciliary arches and nose bridge, enlargement of the tongue and lip, and large hands and feet. Cardiac auscultation revealed irregular premature beats and pathological third heart sound, and a systolic murmur was discovered over the apex and aortic area. Bilateral extensive borders of cardiac dullness were noted. His physiological reflexes were present without any pathology. An electrocardiogram demonstrated sinus rhythm with wide (160 ms) QRS duration of left bundle branch block (LBBB) (Fig. ). The patient’s condition was classified as New York Heart Association (NYHA) stage III–IV.
On admission, magnetic resonance imaging showed pituitary macroadenoma. Given the symptoms described, we arranged blood testing of myocardial injury markers showing an elevated brain natriuretic peptide level of 740 pg/ml indicating cardiac failure (Table ). Hormone laboratory tests performed subsequently demonstrated excessive secretion of GH and IGF-1, twofold greater than the reference normal upper limit, which was consistent with pituitary macroadenoma (Table ). Other routine analyses of liver and renal function were roughly normal.
A Holter monitor was ordered for underlying arrhythmias to explain the patient’s dyspnea, chest discomfort, and presyncope. It demonstrated sinus rhythm with an average heart rate of 68 beats/min, frequent ventricular premature beats, and nonsustained ventricular tachycardia (up to 2200 ms) (Fig. ).
A chest x-ray showed a cardiothoracic ratio (CTR) of 78%. Echocardiography showed diffuse impairment of left ventricular (LV) systolic motion, reaching an LVEF of 16%. We noted hypertrophy of the ventricular septum at 18 mm, ventricular dilation, with LV diameter of 72 mm. The right ventricle and atrium and the left atrium were also dilated with moderate mitral regurgitation and mild tricuspid regurgitation. There was no associated systolic anterior motion (SAM) of the mitral valve. Dyssynchrony of the biventricular systolic motion was apparent.
Given an exertional component to the symptoms together with echo presentations in order to better exclude ischemic cardiomyopathy, coronary angiography was performed, which showed normal coronary arteries without stenosis, and left ventriculography applied simultaneously revealed an EF of 20% with diffuse LV hypokinesis.
Given the patient’s previous medical history of acromegaly, the absence of obstructive coronary artery imaging findings or segmental dyskinesia, family history of hypertrophic cardiomyopathy (HCM), symmetric hypertrophy, as well as absence of SAM of the mitral valve, acromegaly-induced cardiomyopathy was confirmed, which was absolutely opposed to coronary heart disease (CHD) and HCM.
These results indicated that it was probably not a case of hereditary cardiomyopathy; therefore, we diagnosed the patient as having secondary dilated cardiomyopathy due to acromegaly, even taking it a step further progressing to congestive heart failure secondary to acromegaly-induced dilated cardiomyopathy.
Chronic excess of GH and IGF-I secretion affects cardiac morphology and performance [], so etiological treatment for acromegaly-induced cardiomyopathy is crucial to suppressing GH secretion or blocking GH action for the sake of reversing acromegaly-induced cardiomyopathy. The mainstay of treatment acknowledged globally is surgical resection of the pituitary adenoma [], which was unfortunately considered high-risk given our patient’s cardiac condition (NYHA stage III–IV). Although stereotactic radiosurgery combined with somatostatin analogs and GH antagonists administrated previously were effective in suppressing hormones, they could not help his cardiac function. Therefore, we carefully administered diuretics, vasodilators, angiotensin-converting enzyme inhibitor (ACEI), β-blockers, and spironolactone for management of heart failure following the current guidelines []; in the meantime, octreotide (200 μg/day) was administered for the control of GH excess. After good compliance of pharmacotherapy and a regular medical examination regimen for nearly half a year, the serum GH and IGF-1 concentrations decreased from 32.50 ng/ml to 1.98 ng/ml and 627.00 ng/ml to 229.10 ng/ml, respectively, but the patient was hospitalized again because of uncontrollable cardiac failure. Accompanied by the normalization of GH and IGF-1 levels, the patient’s cardiac function did not seem to take a favorable turn upon readmission. Though echocardiography showed a recovered EF value from 16% to 28%, a significant ventricular mechanical dyssynchrony was detected as formerly. Electrophysiological study was performed using a nonaggressive stimulation protocol, which revealed a nonsustained ventricular monomorphic tachycardia []. In the presence of overt ventricular dyssynchrony, complete LBBB, LVEF< 35%, inducible ventricular tachycardia, and symptomatic heart failure despite guideline-directed medical therapy, surgical indication was rarely assessed by neurosurgeons, and stereotactic radiosurgery together with pharmacotherapy produced infinitesimal effects. Therefore, we boldly recommended cardiac resynchronization therapy with defibrillator (CRT-D) implantation based on device implantation official guidelines [, ]. The patient underwent CRT insertion finally and was discharged to home 5 days later, pharmacotherapy continued as usual (Fig. ).
Telephone follow-up was arranged, and the patient claimed symptom improvement following the device insertion 1 month later and was basically back to normal life. We required that he return for follow-up at 1 month, 3 months, and 6 months after the interventional therapy. The patient has been followed in our outpatient clinic for nearly half a year now. During his last visit, echocardiography identified improved LVEF of 54%, and a chest x-ray showed reduced CTR of 60%. The patient was in NYHA functional class II (Fig. ). |
pmc-6482571-1 | A 14-year-old Asian girl presented to our emergency department with intermittent claudication as a chief complaint and with discoloration of her left big toe of 2 weeks’ duration. The claudication was located around her left foot, worsening day by day, and it made her unable to walk properly and limited her physical activity. A physical examination was performed at our emergency department: her blood pressure was 110/70 mmHg, pulse was 80 beats per minute (bpm), respiratory rate was 20 times/minute, and her temperature was 37.3 °C. A localized examination was performed on the big toe of her left foot; it showed black discoloration, low pulsation, and positive localized tenderness (Fig. a, b). A neurological examination showed decreased sensation in the big toe of her left foot; motor function and physiologic reflexes were within normal limits and no pathological reflexes were found. Other physical examinations were unremarkable. Laboratory results showed CRP of 1.16 mg/dL and D-dimer of 2.28 uG/mL. We performed a computed tomography (CT) angiogram, and its result showed near total occlusion of the popliteal artery; CLI was confirmed (Fig. ).
One month before admission, she had symptoms of photosensitivity, myalgia, arthralgia, and a rash around her face and she was hospitalized. Laboratory tests showed positive antinuclear antibody (ANA) test, positive anti-double-stranded DNA (DS-DNA) test, positive anti-ribosomal protein P (RIB), and complement C4 (7.4 mg/dL); she was diagnosed as having SLE and started on prednisone 5 mg twice a day as the main treatment. Social, environmental, and familial history were unremarkable. She did not smoke tobacco or consume alcohol. She had received no past relevant intervention.
Peripheral arteriography was performed with a goal to improve the flow; a soft wire smoothly went through the lesion (Fig. a, b). After multiple dilatations with an over-the-wire balloon, there was persistent recoil and significant stenosis although the flow was improved; however, the procedure was stopped since there was an inflammation of the vessel, which gave rise to a risk of dissection (Fig. a, b). Warfarin 10 mg, atorvastatin 40 mg, and prednisone 5 mg twice a day were given after the procedure, and she was discharged. She attended follow-up at our out-patient department (OPD) 1 week later, there was a little improvement in the discoloration, and she did not complain about claudication anymore (Fig. ). We changed the warfarin to cilostazol 100 mg twice a day and clopidogrel 80 mg. She was also scheduled for debridement and told to come back 2 months later for a second follow-up. On the second follow-up, the improvement in discoloration was better than the improvement in the first follow-up (Fig. ). A third follow-up, 5 months after the second follow-up, showed improvement in symptoms and we planned to do an angiography to make sure about the lesion (see timeline, Fig. ). |
pmc-6482581-1 | A 70-year-old woman presented to the clinic with a history of epigastric distress. Her medical history was significant for Helicobacter pylori infection, which was resolved five years prior; and RA, for which she had been taking MTX (6 mg per week) for the past 6 months. Her symptoms were investigated with esophagogastroduodenoscopy (EGD), which initially revealed no abnormality apart from atrophic gastritis. Following a two-month course of acid-suppressing drugs, she remained symptomatic; therefore, a repeat EGD was conducted, which revealed the emergence of multiple elevated lesions. As a result, she was referred to our hospital.
Physical examination at that time revealed the abdomen to be soft and flat, with no hepatosplenomegaly or lymphadenopathy. Laboratory tests showed elevated levels of lactate dehydrogenase (312 IU/L; reference range, 120–250 IU/L) and soluble interleukin-2 receptor (sIL-2R) (1430 IU/mL, reference range, 145–520 IU/mL). The lymphocyte count was 2375/μl (19%, reference range, 19–61%).
EGD performed at the time of admission to our hospital revealed multiple “dish-like” lesions in the stomach and duodenum (Fig. a, d). Indigo carmine spraying revealed that the lesion elevation was relatively steep, the surface structure was equivalent to that of the background mucosa, and ulceration with white coat was observed in the central part of the lesion (Fig. b). Narrow band imaging revealed meandering irregular microvessels without loops (Fig. c). These results suggest that a solid tumor growing from the submucosa was ulcerated and exposed at the central part of the lesion. The histology of biopsy specimens obtained from the ulcerated lesions showed infiltration of large atypical lymphocytes. Immunohistochemical studies revealed the expression of cluster of differentiation (CD)5, CD20, and Ki-67 antigen, but the absence of cyclin D1, CD10, CD30, B-cell lymphoma (BCL)-2; Epstein–Barr virus (EBV)-encoded small RNA in situ hybridization (ISH) demonstrated that the EBV was absent (Fig. a–i). We carried out positron emission tomography–computed tomography (PET–CT) to evaluate the extent of disease. PET–CT showed abnormal uptake of radioactive tracers in the stomach, duodenum, and a few adjacent nodes, with a maximum standardized uptake value of 21.0 (Fig. ). Based on these findings, and along with the patient’s history of RA treated with MTX, she was diagnosed with MTX-LPD showing features of stage II1 diffuse large B-cell lymphoma (DLBCL) (Lugano classification).
Initial management consisted of the discontinuation of MTX, which resulted in symptom improvement and reduction of sIL-2R level. Two weeks after the withdrawal of MTX, the lymphocyte count increased from 2375/μl to 5616/μl (52%). EGD conducted 1 month after discontinuation revealed a reduction in the number of lesions with some scarring (Fig. ). Pathological findings confirmed residual tumor cells. Three months after discontinuation, epigastric distress worsened and the sIL-2R level reached 1973 IU/mL. A third EGD showed the recurrence of multiple lesions. PET–CT showed abnormal uptake of radioactive tracers with a maximum standardized uptake value of 44.6 in the stomach (Fig. ). We suspected MTX-LPD relapse and started six courses of rituximab, cyclophosphamide, hydroxydaunorubicin, oncovin, and prednisolone (R-CHOP) chemotherapy. After starting chemotherapy, her symptoms and the sIL-2R level improved rapidly. We carried out EGD and PET–CT 1 month from chemotherapy commencement that revealed the disappearance of the lesions and no evidence of lymphoma on pathological evaluation. One year after the cessation of chemotherapy, she remained asymptomatic, and the complete response of MTX-LPD was confirmed on the EGD, pathological examination, and PET–CT (Fig. ). |
pmc-6483113-1 | An 18-year-old Caucasian male with no prior psychiatric hospitalizations was sent to the local emergency room after his parents called 911; they were concerned that their son had become uncharacteristically irritable and paranoid. The family observed that their son had stopped interacting with them and had been spending long periods of time alone in his bedroom. He had also reportedly not been sleeping well and had started talking to himself. For over a month, he had not attended school at the local community college. His parents finally made the decision to call police when their son started screaming at them; the police were monitoring him at their request, soon after he threatened them with a knife. The police took him to the local emergency room for a crisis evaluation.
When the patient arrived at the emergency room, he was given intramuscular lorazepam 1 mg and haloperidol 5 mg because he attempted to strike the nursing staff and security guards. Following administration of the medication, he tried to escape from the emergency room, contending that the hospital staff was planning to kill him. The patient appeared to be internally preoccupied and his mood labile. He refused to cooperate with anyone attempting to conduct a meaningful psychiatric evaluation. He eventually slept for approximately four hours. When he awoke, he reported to the crisis worker that he had been diagnosed with attention-deficit/hyperactive disorder (ADHD) a month ago. At the time of this ADHD diagnosis he was started on 30 mg of lisdexamfetamine dimesylate to be taken every morning in order to help him focus and become less stressed over the possibility of poor school performance.
After two weeks, the provider increased his lisdexamfetamine dimesylate dosage to 60 mg every morning. The provider also started him on dextroamphetamine sulfate tablets (10 mg) that he took daily in the afternoon in order to improve his concentration and ability to study. The patient claimed that he might have taken up to three dextroamphetamine sulfate tablets over the past three days because he was worried about falling asleep, unable to adequately prepare for an examination. These were the series of events that brought him to the emergency department.
Prior to the ADHD diagnosis, the patient had no known psychiatric or substance abuse history. The urine toxicology screen taken upon admission to the emergency department was positive only for amphetamines. Other routine laboratory workups were within normal limits. He had no current history of any serious medical condition, no history of seizures or head trauma. There was no family history of psychotic or mood disorders. There were no vegetative depressive symptoms. There were no symptoms consistent with mania or hypomania. The patient denied using any illegal drug prior to this incident. He was not a victim of abuse.
The stimulant medications were discontinued by the hospital upon admission to the emergency department. The patient was treated with an atypical antipsychotic, risperidone 1 mg BID. He tolerated the medications well. He started psychotherapy sessions, and his parents visited him daily until his release five days later. On the day of discharge, there were no delusions or hallucinations reported. He was referred to the local mental health center for aftercare follow-up with a psychiatrist. |
pmc-6483115-1 | A 58-year-old obese female patient with hypertension, diabetes mellitus, and a 32.7 kg/m2 body mass index (BMI) was admitted to the operating room. The patient was planned to undergo gastric bypass surgery. After standard monitoring (electrocardiogram and pulse oximetry) and arterial line placement, the induction of general anesthesia was achieved using 2 mg/kg propofol, 2 µg/kg fentanyl, and 0.6 mg/kg rocuronium intravenously. In our clinic, central venous catheters are routinely placed to the IJV for patients undergoing bariatric surgery. Thus, we planned to place a central venous catheter in the right IJV under ultrasound guidance with a short axis (out-of-plane) technique using a linear US probe. In one attempt, we accessed the jugular vein and placed the guidewire, however, the aspirated blood color appeared bright red, which made us suspicious of a carotid artery cannulation. We checked with the linear probe to verify the location of the guidewire in the IJV. With a linear probe view, there was an image showing that the guidewire was placed in the carotid artery (Figure ).
This image could be just a reverberation artifact of the guidewire extending into the artery and not actually the wire itself. We could not verify the placement of the guidewire in the jugular vein with manipulation under US visualization. For this reason, we thought that the guidewire should also be checked with an endocavity micro-convex probe before the dilatation of the vessel. We visualized the right brachiocephalic vein using an endocavity micro-convex probe by placing it in the triangular area, which is called the omoclavicular acoustic window (Figure ).
The omoclavicular acoustic window is described as the triangular fossa bordered by the clavicular head of the sternocleidomastoid muscle medially, the clavicle inferiorly, and the inferior belly of the omohyoid muscle posteriorly. We used a 5-8 MHz micro-convex endocavity probe (Mindray® Bio-Medical Electronics Co Ltd., Shenzhen, China) with an optimal imaging depth, which was set at 8 cm. With this method, a Y-shape is visualized, representing the jugular, subclavian, and brachiocephalic veins in the coronal plane (Figure ).
Another method to visualize the brachiocephalic vein with an endocavity micro-convex probe is placing it on the supraclavicular fossa in the coronal plane at about 30-45 degrees from the neck (Figure ).
The US probe can be slid anteriorly with the application of a slight alignment maneuver. The tilting maneuver could be applied as well to facilitate the visualization of the Y-shape of the veins. In our case, we successfully visualized the IJV, SV, and right BV forming a Y-shape (Figure ) and confirmed that the guidewire was in the BV (Figure ).
Then, we placed a triple-lumen 7 French central venous catheter (Arrow-Howes; Arrow International, Reading, PA, US) over the guidewire and fixed it in the proper position. |
pmc-6484054-1 | A 21-year-old female patient was referred from the department of orthodontics to our clinic for orthognathic surgery after the completion of pre-surgical orthodontic treatment. Clinically, she showed anterior open bite with Angle’s class II molar relationship. She also showed hyperplasia of the maxilla and excessive exposure of the maxillary anterior teeth at rest. Her pre-operative radiographs showed a short mandibular body length with a small SNB angle and slight maxillary canting. Her medical history was unremarkable.
The patient underwent orthognathic surgery under general anesthesia. For the maxilla, 2 mm of total impaction with an additional 2 mm of posterior impaction, and canting correction was performed using LeFort I osteotomy. For the mandible, 2 mm advancement with a counterclockwise rotation was performed to close the patient’s anterior open bite and establish proper occlusion according to the maxillary movement. After these procedures, genioplasty was performed to establish the patient’s esthetic facial contour. As the required advancement amount of genioplasty was large (8 mm), a double genioplasty was performed. After all of the surgical procedures, 20 units of botulinum toxin (Meditoxin Type A, Medytox, Seoul, Korea) was injected into the anterior belly of the patient’s digastric muscle using a 1-cc syringe immediately after surgery (Fig. ).
Relapse was evaluated via a clinical examination and a lateral cephalometric radiograph after the completion of the post-surgical orthodontic treatment. The patient’s overbite was 1.9 mm immediately after surgery and 3.2 mm 15 months post-operatively (Table ). Her overjet was 3.9 mm immediately after surgery and 3.7 mm 15 months post-operatively (Table ). The patient showed stable occlusion without any signs of relapse (Fig. ) and was satisfied with the esthetic results. |
pmc-6485048-1 | A 20-year-old Japanese woman with a 4-month history of severe lower back pain was referred to our out-patient department. She had no history of fever, trauma, weight loss, or previous infection.
Radiographic analysis showed collapse of the left side of the L3 vertebral body and swelling of the iliopsoas muscle. Spinal computed tomography (CT) revealed an osteolytic lesion involving the L3 vertebral body and surrounding soft tissue, causing vertebral body collapse (Fig. a, b). Magnetic resonance imaging (MRI) of her lumbar spine showed the tumor extending toward the left side of the paravertebral soft tissue and into the left pedicle (Enneking SIII) (Fig. c, d). Pathological and immunohistochemical analyses of a needle biopsy specimen showed a GCT with multinucleate giant cells surrounded by neoplastic stromal cells (Fig. a). A phase 2 trial showed no adverse effects or complications of denosumab, so she was prescribed six cycles of monthly subcutaneous injections of 120-mg denosumab []. Lumbar CT during denosumab treatment showed that the tumor included a paravertebral lesion with progressive calcification (Fig. b–d).
Following denosumab treatment, she underwent two-stage (anteroposterior) L3 TES. Stage 1 utilized a posterior approach for resecting the posterior vertebral component; the total operation took 5 hours 16 minutes and the total bleeding was 1520 ml. Stage 2 utilized an anterior retroperitoneal approach for resecting the anterior vertebral component followed by intervertebral cage insertion; the total operation took 6 hours 43 minutes, and the total bleeding was 2320 ml (Fig. a, b). The day before the second-stage operation, preoperative angiography and segmental artery embolization from L3 to L4 were performed to reduce intraoperative bleeding. The vertebral body was removed completely after the discectomies, and the bilateral psoas muscle was released from the L3 vertebral body (Fig. c, d). There were no complications during or after the surgery. She was discharged on the seventh postoperative day, ambulatory and without neurological deficits. Two years after surgery, she has not experienced GCT recurrence or implant failure. |
pmc-6485059-1 | A 40-year-old male, weighing 65 kg, suffered from flame burns of 45% total body surface area (TBSA) (40% full thickness) combined with inhalation injury, affecting his face, neck, trunk, upper extremities, and right lower extremity. He was rescued by the firemen from the accidental site and directly sent to the local hospital, which provided sufficient fluid resuscitation during hypovolemic stage post-burn. Negative personal medical history and family history were confirmed while the patient was transferred to our hospital for further treatment on the post-burn day (PBD) 3. Topical usage of 1% silver sulfadiazine (1%SD-Ag cream) was served as wound management together with surgical procedures of escharectomy (upper extremities and right lower extremity) and heterograft on PBD 4, consecutively 2 autografting on PBD 10 and 16. Broad-spectrum antibiotics, Meropenem® (1.0 g three times daily), was applied intravenously since PBD 3 as the empirical therapy for extensive burn patients and continued for ensured Pseudomonas aeruginosa-positive of the wound in this patient (Fig. ). Calorie intake of Fresubin® 1000 mL/day was commenced on PBD 5 via gastrointestinal (GI) tube as a supplemental nutrition other than oral intake of normal food, except on those days of surgical procedures. Not until PBD 13 did the patient show the signs of infection, such as chill, high fever, wounds infiltration, delirium, and neutrocytosis (Figs. and ), while his hemodynamic status remained stable, all coagulation criteria within normal range. Wound and blood culture were both reported Klebsiella pneumoniae-positive (multi-drug-resistant strain, tigecycline medium). Hence, treatment with tigecycline (0.5 g three times daily) was initiated intravenously on PBD 13, together with Meropenem®, and worked well in controlling those infections till PBD 18. All lab findings coordinate with the severity of the patient during that period of time, including his coagulation status.
Nevertheless, concurrent with remission of signs of severe infection, there came the abnormal oozing of blood on the donor site during the third autografting and uncontrolled bleeding while removing the central venous line on PBD 23, which related to the prolonged activated partial thromboplastin time (APTT) 61.5 s, normal range 25.1–39.5 s, while prothrombin time (PT) 15.6 s, normal range 10.0–16.0 s, and the international normalized ratio (INR) 1.32 were normal. An intravenous bolus of 10 mg vitamin K1 was applied during the procedure and continued in the following 5 days. Further investigation of the patient’s coagulation status was launched after the operation. There was no sign of DIC at this time, with normal value of platelets (227 × 1012/L), fibrin degradation products (FDP) 4.7 mg/L, normal range 0-5 mg/L, D-dimer 1.68 mg/L, normal range < 0.55 mg/L, and slightly reduced fibrinogen (Fg) 1.8 g/L, normal range 1.8–3.5 g/L. Complete screening of patient’s coagulation factors was carried out on PBD 26 (Table ). von Willebrand factor (vWF) level and activity were within the normal range, lupus anticoagulant (LAC) was negative, and coagulation factor VIII and V were normal, deficiency of multiple coagulation factors (Table : coagulation factor II, coagulation factor VII, coagulation factor IX, and coagulation factor X activities were 39%, 35%, 45.1%, and 28% respectively on PBD 26) that related to vitamin K deficiency (VKD) was indicated as the reason for coagulopathy in this patient. Unfortunately, specific detection of serum vitamin K concentration and protein induced in vitamin K deficiency (PIVKD) were not available in our hospital. However, what really mattered was to relief further risk of bleeding and coagulation crash as quickly as possible. Thereafter, supportive therapies, such as 200 ml fresh frozen plasma (FFP), was administered daily for consecutive days and 600 IU prothrombin complex was infused on PBD 26 when the patient was diagnosed of hypothrombinemia. Although the coagulation status remained abnormal on PBD 27, surgical debridement of the neck, trunk, and right lower extremity and grafting were performed. There was no abnormal bleeding either on the donor site or burn wounds, and wound healing of any sites was not interfered. At the same time, application of vitamin K1 intravenously increased to 20 mg daily for another 15 days, but showed mild effect to reverse the surging APTT level.
Nothing should be considered as the first priority, except finding out the exact reason for VKD. Concerning no short of vitamin K intake, no impairment of liver function, and vitamin K recycling occurred in this case, but scarcity of endogenous vitamin K generated by intestinal bacterial flora soon came to our view. Meropenem® application was discontinued on PDB 34. Interestingly, 2 days after, APTT improved to 47 s and came back to the normal range on PDB 39 along with normal value of coagulation factor II, VII, IX, and X (Figs. and ), even with combined usage of tigecycline (0.5 g three times daily) and fosfomycin sodium (4.0 g three times daily) intravenously, started on PBD 38, dealing with multi-resistant strain of Klebsiella pneumonia (tigecycline resistant). Another two operations were performed for grafting on PBD 40 and 52. Tigecycline and fosfomycin sodium were applied in the same dosage as previously used for multi-drug-resistant Klebsiella pneumonia still detected in wound culture. The patient was discharged on PBD 67 with all burn wounds recovered and no abnormality in coagulation status (Fig. ). |
pmc-6485064-1 | A 44-year-old man was admitted to our clinic because of left knee pain. He had pulmonary tuberculosis at 6 years old. He presented pus-forming arthritis, which was presumably tuberculous arthritis, in the left knee after 2 years, with spontaneous remission after closure of the draining sinuses. Thereafter, no recurrent symptom of infection was observed. However, the deformity and growth disturbance progressed with the knee pain. He had limb lengthening and alignment correction for the leg length discrepancy and genu valgum. However, his left knee pain continued despite the deformity correction. Radiographs showed a fused knee with severe tricompartmental arthritis (Fig. ). Severe limitation in range of motion was observed on the left knee. We planned to perform one- or two-stage primary TKA depending on the presence of infection [].
Intraoperatively, a large subchondral abscess was found in the lateral femoral condyle and lateral tibial plateau after takedown of the fusion (Fig. d). On the basis of the necrotizing inflammation with granuloma in the frozen-section biopsy, active tuberculosis was suspected. Aggressive debridement and curettage of the infected and necrotic bone and soft tissues were performed.. After bone cuts and soft tissue balancing to prepare for TKA, articulating cement spacers (vancomycin 4 g and streptomycin 2 g per 1 batch) were made intraoperatively and applied to the tibial and femoral sides in sequence using intraoperative cement molds with a previously described technique [, ] (Fig. ). Relative medial and lateral stabilities were confirmed intraoperatively after inserting the articulating cement spacers. The diagnosis of tuberculosis infection was confirmed by isolating Mycobacterium tuberculosis from cultures. We decided to delay the TKA for at least 6 to 9 months to allow the administration of antituberculous drugs []. Evaluation at 1-year follow-up revealed no recurrent infection after sufficient antituberculous drug treatment. Therefore, we recommended TKA surgery as planned. However, the patient was comfortable with the articulating cement spacers. He refused a conversion to TKA for personal reasons. At every visit thereafter, he consistently wanted to delay the second-stage surgery.
Painless activities were possible, including gait, step ascent and descent, and rising from a chair with full load bearing. No evidence was found that suggested recurrent infection or systemic toxicity. Laboratory markers of infection, and renal and hepatic toxicities were followed up once in a year. No abnormal finding was identified. A slowly progressing small bone loss was observed at the bone-cement interface. However, no notable mechanical problem such as subluxation, dislocation, periprosthetic, or implant fracture were observed on the serial knee radiographs (Fig. a and b). At the 7-year follow-up, the patient complained of left knee pain for 2 months. Radiographic and computed tomographic evaluations revealed collapse of the medial femoral condyle with fracture of the femoral articulating spacer component (Figs. and ).
At 7 years after the implantation of spacers, we converted the articulating spacers to TKA using the NexGen Legacy Constrained Condylar Knee system (Zimmer, Warsaw, IN, USA). The appearance of the knee joint and the finding from the intraoperative frozen-section examination suggested no residual infection. The femoral component of the cement spacer, along with the imaging study, showed a bisecting vertical fracture (Fig. a). The tibial component was intact (Fig. b). After removing the cement spacers, the dense fibrotic granulation tissue surrounding the bone surface was exposed, especially in the medial femoral condyle (Fig. b). Excisional biopsy of the tissues was performed. Considerable bone loss with cortical bone breakage was observed in the medial femoral condyle after the debridement of the granulation tissue and necrotic bone (Fig. c). We conducted wiring for the cortical bone breakage, and an allogenous morselized bone graft was performed for the bone loss. Augmentation blocks were additionally used for the remnant bone defect. In the proximal tibia, the considerably contained bone defect was restored with an allogenous morselized bone graft (Fig. a). Histological examination of the specimens from the bone surface of the medial femoral condyle showed marked fibrosis with a significant foreign body reaction characterized by infiltration of giant cells and macrophages (Fig. ). Direct visualization of polymethyl methacrylate (PMMA) particles was impossible because PMMA in the bone cement was dissolved in the organic solvent used during the routine histological processing. However, a negative pattern of the surrounding foreign body giant cells was observed, with various sizes [, ]. Many tiny particles were assumed to be abraded zirconium dioxide, an X-ray contrast medium used as an ingredient in the Palacos R bone-cement []. These particles were mainly located within the cytoplasm of mononuclear macrophages. No evidence of infection or malignant lesion was found.
At the 2-year follow-up, the patient had a passive range of motion from 0° to 90°, with stability. TKA was maintained without osteolysis (Fig. b). He was satisfied with the clinical outcome after TKA conversion. |
pmc-6485089-1 | A 54-year-old Japanese woman visited our ophthalmology department after experiencing proptosis, lid swelling, diplopia, and retro-orbital pain in her left eye lasting for 1 day. She had a medical history of poorly differentiated adenocarcinoma of the stomach, which had metastasized to her ovary and mesentery, diagnosed 2 years earlier. She had undergone four regimen courses of chemotherapy, yet these had failed and she thus received palliative treatment. There were metastases to subcutaneous tissue of her neck and thoracic bone marrow 3 months before her initial visit to our ophthalmic department. She had been admitted to our hospital 5 days previously without symptoms in either eye. She had undergone stenting in her esophagus against eating difficulties but she lived a self-reliant life at home.
At her first visit, an external examination showed lid swelling, red coloration, and proptosis of her left eye. A motility examination revealed an adduction deficit of − 4.0 and an abduction deficit of − 1.0. Ophthalmological examinations revealed a best-corrected visual acuity of 20/20 and an intraocular pressure of 15 mmHg in both eyes. No abnormal findings were found in the anterior segment. Her pupils were equally reactive without any relative afferent pupillary defect. A funduscopic examination showed partial optic disc edema in her left eye (Fig. a). No choroidal masses or striae were noted.
A CT scan performed 10 days before her initial visit to our ophthalmology department revealed enlargement of the left medial rectus muscle. Retrospectively, similar findings were seen on a CT scan performed 3 months previously, and had worsened in the interim. Yet, a CT scan that had been performed 6 months previously showed no remarkable findings (Fig. ). There was no enlargement of other extraocular muscles and no swelling or mass lesion in other orbital tissues during the 6 months. So, gastric cancer metastasis to the medial rectus muscle of her left eye was suspected. Radiation therapy for metastasis to the subcutaneous tissue of her neck and thoracic bone marrow was effective; she received a total of 20 Gy/5 courses of radiation therapy to the orbit. A few days after completion of radiation therapy, lid swelling, red coloring, and pain disappeared. Two weeks post-radiation therapy, a motility examination revealed an adduction deficit of − 4.0 and Hertel’s exophthalmometry measurements with a 108-mm base were 14 mm (right eye) and 19 mm (left eye). At 1.5 months post-radiation therapy, a motility examination revealed an adduction deficit of − 2.0 and Hertel’s exophthalmometry measurements (108-mm base) were 14 mm (right eye) and 13 mm (left eye). A posterior ocular segment examination showed a normal left optic disc (Fig. b). She died 3 months after her initial presentation to our ophthalmology department. |
pmc-6485116-1 | A 74 year-old Caucasian multiparous female with a history of ductal carcinoma in situ (DCIS) of the breast presented with significant postmenopausal bleeding, requiring blood transfusion, and a rapidly enlarging pelvic mass. DCIS was diagnosed 6 months prior to presentation and treated by unilateral total mastectomy and Tamoxifen which was transitioned to anastrozole at the onset of postmenopausal bleeding. She had a known history of uterine leiomyomas and no family history of uterine malignancy. Abdominal imaging by ultrasound and computerized tomography (CT) revealed a 15 cm heterogeneous mass located centrally within the anterior mid body of the uterus (Fig. ). The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy.
The uterus with attached bilateral fallopian tubes and ovaries weighed 635 g. Grossly, the uterus contained a 15.5 cm well-demarcated intramural mass. The cut surface was white-tan to yellow with regions of necrosis. One section per centimeter of tumor was evaluated. Microscopically, the tumor was a cellular spindle cell neoplasm with anastomosing fascicles interrupted by thick-walled blood vessels or fibrous regions (Fig. a). A wispy or delicate hyaline extracellular matrix was seen throughout the tumor (Fig. b). The tumor cells had moderate eosinophilic cytoplasm, round to ovoid nuclei with fine chromatin and small nucleoli. The cells exhibited uniformly mild cytologic atypia. The mitotic index was no greater than 2 figures per 10 high power fields. Ischemic/hyaline-type necrosis was present, but no evidence of tumor cell/coagulative necrosis was identified. Immunohistochemically, the tumor strongly and diffusely expressed desmin and h-caldesmon and exhibited patchy, strong expression of CD10. Aside from two benign endometrial polyps, the remainder of the specimen was unremarkable. The intramural mass was classified as a cellular leiomyoma. The patient’s post-operative course was uneventful, and six months after surgery she remains asymptomatic without recurrence. She elected to discontinue all hormonal modulator therapy.
At the time of grossing, a sample of tumor was submitted for chromosomal karyotyping and RNA sequencing (RNA-Seq) according to a previously described protocol []. In brief, mRNA isolation, cDNA synthesis and library preparation utilized Illumina TruSeq Library Preparation Kit version 2 according to the manufacturer’s protocol. Sequencing was performed by the Illumina HiSeq 2500. A customized bioinformatics pipeline for RNA-Seq analysis known as MAP-RSeq was used to assess fusions and gene expression []. RNA-Seq gene expression analysis compared gene expression by the tumor to normal uterine tissue from the Genotype-Tissue Expression (GTEX) database ().
A conventional karyotype showed complex chromosomal abnormalities, which included numerous structural and numeric abnormalities: 45–46, X,der(3)t(1;3)(q21;q26), t(5;15)(q31;q22) add (6)(q25), ins(10;?)(q22;?),ins (11)(p15q21q23),+ 0-1mar[cp20]. RNA-Seq revealed a gene fusion involving KAT6B (10q22.2) and KANSL1 (17q21.31). The fusion joined exon 3 of KAT6B to exon 11 of KANSL1. RT-PCR generated the expected fragment size of 165 bp and Sanger sequencing confirmed the fusion (Fig. ). Gene expression analysis of MED12, HMGA1 and HMGA2 revealed overexpression of HMGA2 and HMGA1 and normal expression of MED12 relative to normal uterine tissue (Fig. ). |
pmc-6485144-1 | A 57-year-old Caucasian woman presented to our institution with severe muscle weakness, fatigue, and weight loss for the past 2 years. Her medical history included well-controlled migraines and depression, which were treated with sumatriptan and citalopram, respectively. In addition, she had chronic hypokalemia leading to multiple visits to the emergency department for muscle weakness. These episodes were treated with potassium supplementation, with only transient improvement. She denied smoking, drinking alcohol, or using recreational drugs. On further questioning, she complained about dry eyes and dry mouth for the past 5 months. Also, she mentioned unintentional weight loss of 8 pounds during the same time. Upon examination, her vital signs were within acceptable limits. She was cachectic, with marked temporal wasting, dry mouth, and poor dentition. No thrush was noticed. Her cardiopulmonary evaluation was unremarkable, and no organomegaly was palpated. Her neurological examination revealed decreased muscle strength in upper and lower extremities, both proximally and distally. Furthermore, her tendon reflexes were decreased throughout. However, her sensory and vibratory function was intact.
Biochemical studies showed hyperchloremia (122 mEq/L), nonanion gap (non-AG) metabolic acidosis (HCO3−, 16 mEq/L; AG corrected for albumin, 7.8 mEq/L), and severe hypokalemia (2.5 mEq/L). In addition, her serum creatinine (Cr) was 1.3 mg/dl (estimated glomerular filtration rate [eGFR], 42 ml/min/1.73 m2 per the Modification of Diet in Renal Disease formula [MDRD]), and her blood urea nitrogen was 16 mg/dl. The remaining electrolytes, including calcium, magnesium, and phosphorus, were within normal limits. Her arterial blood gas showed pH 7.29, partial pressure of carbon dioxide 26 mmHg, and partial pressure of oxygen 134 mmHg. Her urine biochemistry revealed specific gravity 1.004, urine osmolality 175 mOsm/L, and pH 7.0. On further evaluation, the patient had a high urine anion gap (UAG) of + 23 and an inappropriately high potassium-to-creatinine ratio (K/Cr) of 3.9 mEq/mg. Repeated urine studies showed persistent alkaline urine (pH range, 6.5–7) with no evidence of glycosuria or phosphaturia. These findings were concerning for dRTA complicated with severe symptomatic hypokalemia. Additionally, her urine sediment was notable for sterile pyuria, as well as the presence of eosinophils, which suggested an ongoing tubulointerstitial process.
She had mild polyclonal gammopathy with predominance of immunoglobulin G (IgG) antibodies and undetectable IgG4 levels. Furthermore, antinuclear antibody titers (1:1280, speckled pattern), antibodies against Sjögren’s syndrome antigen A (116.4; reference, 0–19.9), and antibodies against Sjögren’s syndrome antigen B (58.3; reference, 19.9) were very high, suggesting Sjögren’s syndrome (SS). The patient had no antibodies against salivary protein 1 or parotid-specific proteins. Antibodies against carbonic anhydrase (CA) type VI were negative as well. A renal biopsy was conducted, which revealed acute tubulointerstitial nephritis (TIN) with abundant eosinophils and significant lymphocytic and plasmatic cell infiltration (Fig. a and b). We concluded that our patient had primary SS with acute TIN.
The patient received aggressive therapy with potassium chloride (180 mEq/day), sodium bicarbonate (1960 mg/day), and amiloride (10 mg/day). In addition, she was treated with immunomodulatory therapy, including hydroxychloroquine (HCQ; 300 mg/day), azathioprine (50–100 mg/day), and a taper of prednisone. The patient tolerated the therapy and was reevaluated as an outpatient. After 2 weeks of inpatient treatment, her potassium level remained stable (3–3.5 mEq/dl), and she was minimally symptomatic. She was discharged with close follow-up.
Her strength and weight increased over the following 5 months. However, her renal function remained decreased with a serum Cr of 1.3–1.5 mg/dl, mild hypokalemia (K+, 3.1–3.4 mEq/dl), and mild metabolic acidosis (HCO3−, 20 mEq/L), punctuated by recurrent episodes of severe hypokalemia and acidosis when she was unable to maintain the high-dose potassium and bicarbonate supplementation. Figure shows the trajectories of serum potassium levels and renal function as well as the influence of medical therapy during the clinical course of the patient. Her clinical course was affected by her intermittent compliance with prednisone owing to its side effects, most importantly edema and lipodystrophy. She developed chronic kidney disease (CKD) in the setting of TIN. |
pmc-6485150-1 | A 94-year old woman presented with high fever associated with decreased oral intake and appetite loss and was admitted to our institute. She had been diagnosed as having diabetes mellitus, mild chronic kidney disease, chronic heart failure and stayed at a nursing home. She was a wheelchair-user. At the initial presentation, the patient had a body temperature of 40.2 °C, blood pressure of 183/81 mmHg, and pulse of 74 beats per min. Hypoxemia was not confirmed. The physical examination was unremarkable. Chest X-ray and urine test were normal. Laboratory tests revealed an elevation of blood urea nitrogen 23.8 mg/dl, creatinine 1.14 mg/dl and C-reactive protein 1.93 mg/dl. Platelet count was low at 105,000/μl. White cell count, hemoglobin and liver function tests were within normal range as shown in supplementary file. Two sets of blood cultures for aerobic and anaerobic bacteria, mycobacteria and fungi were drawn. Then, the patient was started empirically on meropenem and teicoplanin for broad-spectrum antibiotic coverage. In addition to blood cultures, a urinalysis with culture and a chest X-ray and CT were performed and found to be normal. The patient had no clinically evident sites of infection by history or physical examination. On day 2, a coryneform organism was recovered for 32 h by BACTEC (BD, Tokyo, Japan) from both the aerobic and anaerobic tubes of all blood cultures. Brevibacterium species were identified by Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). The score value was 2.36. On gram-stained smears from the culture plates, the organisms appeared as Gram-positive, club-shaped, slightly curved rods, and some coccal forms were present (Fig. a). The bacteria were subcultured on Trypticase Soy Agar II with 5% Sheep Blood (BD, Tokyo, Japan) at 35 °C in 5% CO2, which resulted in a gray-white, smooth, non-hemolytic colonies after a 48-incubation (Fig. b). Subsequently, genetic investigation by 16S ribosomal RNA analysis was performed in order to identify the organism. Finally, the result identified this pathogen as Brevibacterium paucivorans with 99.5% homology on the Ez taxon database ().
For comparison of a hydrolysis of casein in the organism, we obtained a type strain of B. casei, JCM 2594T and of B. paucivorans, JCM 11567T, from the Japan Collection of Microorganisms (JCM). Pyrazinamidase test was performed using PZA broth (Kyokuto Pharmaceutical Inc., Tokyo, Japan). Casein hydrolysis test was performed as follows. 1) inoculate the organism on a skim milk agar, 2) incubate the plate at 37 °C, 3) examine the plate for zone of hydrolysis following incubation. Both the organism and JCM 11567T showed a lack of hydrolysis of casein, while a hydrolysis of casein was confirmed in JCM 2594T as shown in Fig. . The organism had an absence of pyrazinamidase, while JCM 2594T showed a presence of pyrazinamidase. Additional microbiological tests by API 50CH showed that utilization of D-arabinose and gluconate was negative. These results were consistent with the organism as B. paucivorans. Antimicrobial susceptibility testing revealed that the organism was susceptible to MEPM. Although the peripheral venous catheter site showed no erythema or tenderness, the catheter was removed without culture, and a follow-up blood culture remained negative after therapy lasting for 7 days. The patient’s fever finally abated and labs were also improved. On day 14, the antibiotic therapy was discontinued. On day 28 from admission, fever recurred and blood cultures were performed. Candida parapsilosis was isolated by 2 sets of blood cultures, and she was diagnosed as having candidemia. While L-AMB was started for Candida parapsilosis bacteremia, she died by candidemia on day 35.
Antimicrobial susceptibility testing was performed for the strain using the broth microdilution method (Dry Plate®, Eiken Chemical co., Ltd., Tokyo, Japan) according to the Clinical and Laboratory Standards Institute guidelines []. The isolate was susceptible to gentamicin [minimum inhibitory concentration (MIC) = 1 μg/ml], ciplofloxacin (MIC = 0.25 μg/ml), vancomycin (MIC≦0.5 μg/ml), meropenem (MIC≦0.5 μg/ml) and rifampicin (MIC≦0.12 μg/ml), and was resistant to clindamycin (MIC> 4 μg/ml), and was intermediately resistant to ceftriaxone (MIC = 2 μg/ml),and cefepim (MIC = 2 μg/ml) as shown in Table . |
pmc-6485155-1 | A 70-year-old male was admitted to our hospital for “abdominal pain, abdominal distension for 1 month, and no exhaustion or defecation for 4 days” as the chief complaint on April 10, 2017. He had no fever, nausea or vomiting.
The physical examination revealed abdominal distension (Fig. a), full abdominal tenderness and weak bowel sounds (1 beat/min). The following laboratory data were observed: WBC: 9.02 × 109/L, NET%: 78.90%, and CEA: > 60.00 μg/L. No obvious electrolyte, coagulation or liver biochemistry abnormalities were noted.
A CT scan of the abdomen revealed peritoneal effusion and bowel dilatation (Fig. b). The admitting diagnoses that were investigated were acute intestinal obstruction and abdominal effusion. On the first day, a transabdominal ultrasound-guided biopsy was performed, and a characteristic yellow jelly-like mucus containing microscopic mesothelial cells, fibrous tissue and lymphocytes with mild atypia was extracted (Fig. a-c). Therefore, PMP was suspected.
Operation: Because the patient complained of increasing abdominal distension and his abdominal pressure reached 35 mmHg, he underwent an emergency exploratory laparotomy. A significant amount of yellow, jelly-like mucus (approximately 5000 mL) was found during the operation (Fig. a). Numerous metastases were noted on the omentum and mesenteric root. After removing the mucus, we identified a hard mass measuring 10 cm × 15 cm with an unclear boundary and an abundant blood supply on the ileocecal junction (Fig. c). After carefully separating the appendix, the gangrenous rupture of the ileocecal tumour was observed, and the appendiceal lumen was interlinked with the abdomen. The patient’s small intestine and colon were expanded, but the colon’s expansion was more obvious, corresponding to low intestinal obstruction (Fig. b). Considering that explanations other than paralytic intestinal obstruction caused by the significant accumulation of intraperitoneal mucus might be plausible, we further explored the pelvic cavity. A hard mass measuring 4 × 5 cm with an unclear boundary infiltrating the rectal muscle layer was identified in the upper rectum (Fig. d). The peritoneal cancer index (PCI) was estimated intraoperatively, and the aggregative score of 13 abdominopelvic regions reached 20. We performed cytoreductive surgery (CRS), enterolysis, intestinal decompression and special tumour treatment to remove the lesions and relieve the obstruction as much as possible. Although some residual cancer remained, there was no nodule larger than 2.5 mm in diameter. Thus, we performed CC1 cytoreduction on the patient. Radical resection of the rectal carcinoma was also performed because the patient had PMP accompanied by rectal cancer.
The postoperative course was uneventful. The patient was discharged on postoperative day 15.
The postoperative histological pathologic diagnoses were appendiceal mucinous neoplasm, rectal cancer and PMP. The rectal cancer was a medium differentiated adenocarcinoma, approximately 50% of which was a mucinous adenocarcinoma. Serosa invasion, intestinal ulcerations and perineural invasion were noted, but vascular invasion was not observed (Fig. a). In the appendiceal mass, a crowded glandular epithelium with mild nuclear abnormalities, including the pseudo-layer arrangement, was noted. The tumour was LAMN (Fig. b). Moreover, numerous cavities containing mucus were observed in the fibrous tissue (Fig. c). The immunohistochemical staining of the rectal tumour revealed the following: PTEN (++), ERRCC1 (++), VEGF (++), TS (−), EGFR (++), HER2 (0), PMS2 (+), MLH1 (++), MSH2 (+++), MSH6 (+++), and MGMT (+) (Fig. d).
Hyperthermic intraperitoneal chemotherapy (HIPEC) was not performed during the surgery because of disagreement among the patient’s family members. We strongly recommended that the patient receives chemotherapy or radiotherapy after surgery. However, to date, the patient did not receive these treatments due to economic difficulties. At the 1-year follow-up visit, no tumour recurrence was discovered by CT. |
pmc-6485166-1 | A 26-year-old Japanese man was referred to our hospital in February 2008 with a chief complaint of swelling in the alveolar region of a maxillary anterior tooth, which had been present for the prior month. An intraoral examination revealed alveolar swelling on the labial side of the maxillary anterior tooth region. The mucosa of the retromolar region exhibited a normal color and no evident swelling (Fig. a). A panoramic radiographic examination revealed well-demarcated radiolucent lesions in the maxillary anterior tooth and the right retromolar regions (Fig. b). On computed tomography (CT), well-demarcated low-density areas, measuring 35 × 30 mm and 17 × 12 mm, were observed in the maxillary anterior tooth and right retromolar regions (Fig. c). The lesions were clinically diagnosed as a radicular cyst of the left lateral incisor and an additional suspected tumor of the right retromolar region. Pathological examination of the biopsy specimens revealed a radicular cyst of the left maxillary lateral incisor, and a suspected case of odontogenic myxoma in the right retromolar region. In May 2008, resection of the maxillary cyst and tumor of the retromolar region were performed under general anesthesia. The mucosa lining the retromolar region and the soft tissue of the bone defect were resected. No recurrence of either condition was observed at the final follow-up examination, 2 years later.
Histopathological examination identified stellate-shaped and spindle-shaped fibroblasts interspersed in an abundant myxoid matrix. Sparsely intercalated fibrous connective tissue was also observed (Fig. a, b). Alcian blue and periodic acid–Schiff (PAS) staining of the mucinous substrate of the tissue demonstrated a positive reaction with Alcian blue and a negative reaction with PAS (Fig. c). Sparse formation of reticular fibers was observed via the silver impregnation method (Fig. d). S-100 positive cells were not identified in immunohistochemistry (Fig. e). There was no clear encapsulation of the tissue mass, and an odontogenic epithelial island was also absent. Further, invasion of the peripheral bone by the tissue mass was not observed (Fig. f). A histopathological diagnosis of OFM was made. |
pmc-6485166-2 | A 60-year-old Japanese woman visited our department in January 2015 with a chief complaint of a mass at the maxillary right canine and first premolar region, which had been identified during a visit to a private dental clinic in April 2014 for dental treatment and was still present at follow-up in January 2015. An intraoral examination revealed a 7 × 6-mm mass with elastic hardness and no mobility on the buccal gingiva at the maxillary right canine and first premolar region. The surface mucosa was a normal color, and the mass was painless and non-pedunculated (Fig. a). Dental radiographs did not show any obvious resorption of bone at the maxillary right canine and first premolar region (Fig. b). A clinical diagnosis of epulis of the gingiva was made. The mass was resected under local anesthesia in February 2015. No recurrence of the mass was observed at the final follow-up, 2 years after the surgical procedure.
Histopathological examination identified a myxomatous stroma with well-delineated borders and few fibers (Fig. a, b). The myxomatous stroma was positive for Alcian blue and negative for PAS. Silver staining did not identify the presence of any reticular fibers. S-100-positive cells were not observed. OFM was diagnosed based on the aforementioned findings. |
pmc-6485166-3 | A 47-year-old Japanese woman presented to our department in October 2016 with a chief complaint of a mass on the buccal gingiva at the maxillary right canine and first premolar region, which she had been aware of since September 2015. An intraoral examination revealed a 10 × 10-mm mass with elastic hardness and no mobility on the buccal gingiva at the maxillary right canine and first premolar region. There was partial redness of the surface mucosa, and the mass was painless and non-pedunculated (Fig. a). No clear evidence of bone resorption at the maxillary right canine and first premolar region was observed on the dental radiograph (Fig. b). A clinical diagnosis of epulis of the gingiva was made. The mass was resected under local anesthesia in November 2016. No recurrence was observed at the final follow-up, 1 year after the surgical procedure.
On histopathological examination, the gingival growth was well delineated with a myxomatous stroma characterized by a sparsity of fibers. There was mild infiltration of plasma cells around the periphery of the blood vessels (Fig. a, b). The myxomatous stroma was positive for Alcian blue and negative for PAS, but no reticular fibers were identified on silver staining. No S-100-positive cells were observed. A histopathological diagnosis of OFM was made. |
pmc-6485174-1 | A 40-year-old woman consulted us with multiple café-au-lait spots, family history of neurofibromatosis, and prior diagnosis of NF1 by her primary doctor. Her chief complaints were numbness of the upper limb and gait disturbance from 1 month prior. Neurological examination revealed a spastic gait. The Romberg test was positive. The one leg standing test showed instability in both legs. Hyperreflexia showed a deep tendon of the biceps, triceps, patella, and Achilles on both sides. In the manual muscle test, only finger extension was reduced to 4 on the left hand. The sense of pain was reduced on the right side of her body.
Radiography showed expansion of the atlanto-dental interval at the neutral position of the cervical spine (Fig. a), while canal stenosis was observed by computed tomography and magnetic resonance imaging (Fig. b, c, e). An abnormality of the left side vertebral artery inside of the C1 lamina was observed by computed tomographic angiography (Fig. d). Magnetic resonance imaging showed dural ectasia from C2 to T2, and AAD. There was no neurofibroma between the atlas and the odontoid (Fig. e, f).
We performed surgery to prevent the progression of myelopathy caused by AAD. We initially planned a long posterior fixation. However, we achieved a good closed reduction of the AAD under general anesthesia. Thus, we tied an ultra-high molecular weight polyethylene cable (Nesplon; Alfresa, Inc., Osaka, Japan) to the C1 lamina and spinous process of C2 to maintain the position of the reduced AAD. Furthermore, we tied two nesplon cables® to the sublamina of C1 and C2 according to the Brooks technique. The iliac bone was grafted on between the C1 and C2 laminae (Fig. ). The operative time was 1 h 35 min, and bleeding was < 50 ml. After the operation, the patient showed improvement of neurological symptoms. She wore a Philadelphia brace continuously. However, at 5 months after surgery she felt neck pain and consulted us again. Computed tomography showed fracture of the C1 lamina and recurrence of AAD (Fig. ).
We reoperated using a long posterior fusion. Because of the existing abnormal vertebral artery inside of the C1 lamina, we gently removed scar tissue using a subperiosteal approach, and revealed the C1/2 facet under direct vision. We then introduced two intra-articular titanium spacers (KiSCO, Kobe, Japan) for fixed bilateral atlanto-axial joints.
Vertex select® (Medtronic, Minneapolis, MN, USA), a plating system for occipital bone, was used for posterior fixation of the occipital bone and cervical spine. Facet screw fixations were inserted on the right side of C2/3 and both sides of C3/4. Lateral mass screw fixation was performed on both sides of C4. Two pre-bending rods were connected to these screws on both sides of the cervical spine, and two rod couplers were connected to the pre-bending rods at the height of C2 and C4. To avoid stress concentration and refractures, sublaminar taping was performed at C2, C3, and C4 using nesplon cables®. Finally, her right side iliac bone was grafted between the occipital bone and the back of the C1 lamina using the Newman technique (Fig. a, b). The operative time was 3 h 56 min, and bleeding was 425 ml. She wore a Philadelphia brace for 1 year after the second operation. At 4-year follow up, there was no AAD recurrence (Fig. c, d) and her neck pain had improved. She could walk independently, and a manual muscle test showed ‘normal’ for every muscle. |
pmc-6485518-1 | A 92-year-old female patient with a past medical history of hypertension, hyperlipidemia, mechanical aortic valve replacement, coronary artery bypass to three vessels 15 years prior, and a history of breast cancer treated with mastectomy and radiation therapy presented with a one-week history of progressive dysphagia to solids then liquids. The patient is Arabic, originally born in Egypt, and admitted to a 20 pack-year smoking history, but denied alcohol or illicit drug use. Prior to admission, the patient experienced one episode of hematemesis, in which she vomited specks of frank blood after eating. The patient denied any chest pain, nausea, diarrhea, abdominal pain, and bloody or dark-colored stools. The patient had been on warfarin therapy for the last 15 years and after having blood in her vomitus, her family brought her to the emergency department for further evaluation. The patient’s home medications included ascorbic acid 500 mg daily, calcium carbonate 600 mg daily, losartan 100 mg BID, metoprolol 100 mg BID, simvastatin 40 mg QHS, and warfarin 3 mg daily. Upon presentation, she was admitted to the hospital for further investigation of her upper gastrointestinal bleeding and dysphagia.
Initial laboratory studies were significant for normocytic anemia with a hemoglobin of 10.5 g/dL, mean corpuscular volume of 83.3 fL, a prothrombin time of 21.9 seconds and an international normalized ratio of 1.91. Vitals were stable. The patient underwent CT with contrast of the neck and chest which was significant for a large gas and fluid-containing, rounded mass in the posterior mediastinum (Figure ).
Differential diagnosis at this point included a mediastinal mass, Zenker’s diverticulum, esophageal tumor, and achalasia. After abnormal findings were reported on CT imaging, the patient elected to undergo upper endoscopy with possible biopsy of the lesion. Endoscopy was performed and during the procedure, a large, obstructing esophageal mass with adherent clot was visualized in the proximal third of the esophagus (Figure ).
Biopsies of the mass were obtained and the procedure was aborted as the endoscope could not be advanced safely around the mass. Due to the underlying coagulopathy from warfarin therapy and high risk of bleeding of the mass itself, the patient was started on a proton pump inhibitor infusion, which was continued for the duration of her hospitalization. Tissue biopsies from the esophageal mass were fixed and routinely stained (Figure ).
Pathology results revealed tumor cells demonstrating dual expression with p40 and vimentin immunohistochemical (IHC) stains thus confirming the diagnosis of sarcomatoid squamous cell carcinoma. Smooth muscle actin, CD117, and pan-keratin stains were negative.
After counseling the patient and family about the diagnosis, the patient elected to undergo palliative therapy with the placement of an esophageal stent in order to alleviate her dysphagia. The patient wished not to pursue further diagnostic testing for the purpose of staging the tumor, as she did not want to undergo major surgery, chemotherapy, or radiation therapy for her disease. The patient underwent successful placement of an intraluminal esophageal stent. The patient was monitored in the acute care setting post-operatively and subsequently discharged in stable condition. The patient was instructed to follow up in the outpatient clinic, as she could possibly benefit from radiation therapy in the future. |
pmc-6485519-1 | A 48-year-old-male with a history of inferior ST-elevation myocardial infarction (STEMI) status post percutaneous coronary intervention (PCI) with drug-eluting stent (DES) to the distal right coronary artery (RCA) eight months prior, presented with recurrent angina, described as pressure-like, substernal, radiating to both arms, and similar to his previous STEMI presentation. His angina occurred at rest and was alleviated with sublingual nitroglycerin. The patient was compliant with guideline-directed medical therapy with dual antiplatelet therapy (DAPT), statin, and beta-blocker (BB). His family history did not have any history of premature coronary artery disease or of sudden cardiac death. He never smoked and rarely consumed alcohol. His vitals on presentation to the emergency room were: blood pressure (BP) 146/82 mmHg; heart rate (HR) 88/min; respiratory rate (RR) 16/min; afebrile; and oxygen saturation of 98% on room air. His physical exam, including cardiac and pulmonary exams, were unremarkable. His electrocardiogram (EKG) demonstrated signs of prior inferior infarct with no acute signs of ischemia or ST-changes (Figure ). Serum troponin was initially 0.37 ng/L (normal <0.05 ng/L) and subsequently peaked at 1.93 ng/L. The patient was diagnosed with non-STEMI. A heparin infusion was started per acute coronary syndrome (ACS) protocol. Given the diagnosis of non-STEMI, left heart catheterization was performed, revealing severe focal stenosis just proximal to the previously placed stent. A decision to proceed with PCI was made. Immediately after guidewire passage into the RCA, acute spasm developed, resulting in diffuse, severe stenosis, extending over previously normal segments to the proximal RCA. This completely resolved with intracoronary nicardipine and nitroglycerin, including the initial focal stenosis (Figure ). The patient was diagnosed with vasospastic angina (VSA). He was continued on DAPT, BB, and statin with the addition of the non-dihydropyridine calcium channel blocker (CCB), verapamil. Despite this, the patient continued to experience intermittent angina and verapamil was increased to the maximum dose. An oral long-acting nitrate was additionally added but quickly discontinued due to intolerable headaches. Various second CCBs were added, including a dihydropyridine CCB, but intermittent angina continued. At this point, the patient was diagnosed with refractory VSA. Clonidine (alpha-2-agonist) was also tried, with no benefit. Eventually, a nitroglycerin patch was added with reduced headaches and a modest decrease in the frequency of angina episodes. |
pmc-6485520-1 | We present a 23-year-old female with a past medical history of polycystic ovarian syndrome (diagnosed at the age of 15) and diabetes mellitus. She complained of persistent hoarseness, cough, and a decreased range of motion of her right neck, shoulder, and odynophagia. She rated her pain as six out of 10. Her pain was 100% relieved with tramadol. She lost 41 pounds in two months. A computed tomography (CT) scan of her neck showed a markedly enlarged, right level, 2/3 lymph node measuring 3.5x4.1x4.6 cm (Figures -). There was also left level, 2/3 lymph nodes measuring up to 0.8x1.5 cm. The right aspect of the supraglottic larynx was asymmetrically thickened at 10 mm versus 3 mm on her contralateral left side.
The patient was evaluated by Ear, Nose, and Throat (ENT). Fiber-optic laryngoscopy showed her epiglottis was thickened and the right side was pushed to the left. She had a right pyriform mass with a fixed right true vocal cord and thickening of her right false vocal cord. Positron emission tomography (PET) scan showed a prominent, right-sided, hypopharyngeal, hypermetabolic mucosal mass consistent with a primary tumor involving her right vallecula, epiglottis, piriform sinus, and supraglottis (Figures -).
Ipsilateral hypermetabolic 4.9 cm level 2A and 3 hypermetabolic lymph nodes were seen. Subcarinal and left hilar hypermetabolic lymphadenopathy suspicious for nodal chest involvement was noted. An ultrasound-guided biopsy and fine needle aspiration (FNA) of the anterior cervical lymph node showed a small round cell tumor, favoring high-grade neuroendocrine carcinoma (Figure ). A bone marrow biopsy showed normocellular bone marrow. No morphological or histochemical support for metastatic tumor was noted.
Pathology confirmed tumor expression of the p16 marker related to high-risk HPV (Figure ). Eight HPV subtypes 16, 18, 31, 33, 35, 45, 52, and 58 were identified by ribonucleic acid (RNA) in-situ hybridization.
She received a total of six cycles of chemotherapy with cisplatin and etoposide. Two cycles were given neoadjuvantly, three were given concurrently with 70 Gy of localized radiation therapy, and the last cycle was given post-radiation therapy. After an initial two cycles of chemotherapy, a repeat PET scan showed a decrease in fluorodeoxyglucose (FDG) metabolism of the mass with no additional FDG-avid metastatic lesions. Resolution of the previously seen subcarinal and left hilar lymphadenopathy with no FDG uptake was also noted. After treatment, she had subjective improvement with increased neck range of motion, reduced odynophagia, and hoarseness. |
pmc-6485522-1 | An 86-year-old male with a decade-old history of prostate cancer that mitigated with subsequent radiation therapy presented to a local hospital with complaints of black stools for one day as well as an episode of syncope. Further inquiry revealed that his current predicament had been preceded by bouts of nausea and poor appetite for the last four weeks, supplemented with an unintentional weight loss of fifteen pounds in the previous six months.
Initial laboratory workup revealed a low hemoglobin of 11 mg/dL, a considerably elevated serum creatinine of 14.83 mg/dL (from a baseline of 1.00 mg/dL), while urinalysis (UA) eluded to a large amount of dysmorphic red blood cells (RBCs), 2+ urine protein but no evidence of an underlying urinary tract infection (UTI). A resultant renal ultrasound ruled out obstructive uropathy as the perpetrating cause. The patient underwent two separate sessions of hemodialysis which reduced the serum creatinine to baseline levels. A prior history of prostate cancer warranted the use of a non-contrast computerized tomography (CT) scan of the abdomen and pelvis which revealed new osteoblastic lesions in the L2 vertebra as well as an asymmetrical thickening of the bladder wall which was concerning for a recurred metastatic disease (Figure ).
During the course of his admission, the patient frequently passed melanotic stools which precipitated to a second syncopal episode with a drastic decline in hemoglobin levels to 6 mg/dL. The patient was subsequently transferred to our medical facility for further management. He was initially transfused with two units of packed RBCs and then later underwent an esophagogastroduodenoscopy (EGD) which revealed a non-bleeding duodenal ulcer that was remedied with bipolar cautery and clipping. Following the EGD, the patient was noted to have shortness of breath (SOB). A subsequent chest CT scan without contrast revealed emphysematous changes in bilateral lung fields, with interstitial fibrosis and nodular formations (Figure ).
Owing to the inference of an underlying autoimmune etiology, the patient underwent an autoimmune workup (Table ).
A high titer of autoantibodies in the autoimmune profile further suggested that the underlying cause of the patient's findings can be attributed to a pathology of anti-glomerular basement membrane disease which was later confirmed via a left renal biopsy which showed necrotizing granulomatous crescentic glomerulonephritis and an immunofluorescence of the histological section which showed linear deposits along the basement membrane (Figures -).
We subsequently established a diagnosis of anti-glomerular basement membrane disease. The patient was managed on the same line with an initial administration of steroid pulse therapy with methylprednisolone for three days followed by an oral administration of 60 mg prednisone for one week. He was also started on a renal-adjusted course of vancomycin and ciprofloxacin because of elevated levels of procalcitonin and scheduled for five sessions of plasmapheresis with concomitant hemodialysis owing to his declining renal function which precipitated to considerable lethargy. Following a harm-benefit analysis, the fifth session of plasmapheresis was abandoned. Prednisone was tapered to 30 mg on the fourteenth day of admission with an aim to tail off the dosage by 10 mg every week.
A tunneled catheter was placed for subsequent outpatient dialysis visits and the patient was discharged to hospice after fourteen days of inpatient care. |
pmc-6485526-1 | A 49-year-old Hispanic female with no significant past medical history presented to the emergency department with progressive dysphagia to liquids and solids and 40-pound unintentional weight loss over the last eight months. She denied a history of alcohol abuse, herbals, supplements or environmental exposures. Upon presentation, blood pressure was 99/57 mmHg and the pulse rate was 122/minute. On examination, she was cachectic, had 4 to 4+ power in all extremities, bilateral wrist swelling, bi-basilar crackles, and bilateral pedal edema. Her body mass index (BMI) was 22; her BMI one year ago was 30. Liver enzymes, a year prior to the presentation, were normal.
Labs were significant for blood urea nitrogen 7 mg/dL, creatinine 0.3 mg/dL, albumin 1.6 g/dL, total bilirubin 1.2 mg/dL, direct bilirubin 0.9 mg/dL, alkaline phosphatase 722 units/L, gamma-glutamyl transferase 958 units/L, aspartate aminotransferase 325 units/L, alanine aminotransferase 82 units/L, hemoglobin 10.3 g/dL, ferritin 2468 ng/mL, transferrin saturation 85%. Her creatine kinase (CK) was 55 units/L (normal range 0-163), aldolase 10.4 units/L (normal range < 8.1) and C-reactive protein was 1.71 mg/dL (normal range < 0.6). Antinuclear antibody (ANA), anti-Jo-1, and anti-topoisomerase I antibody were negative. There were no documented liver function tests prior to presentation. Computed tomography (CT) of the chest, abdomen, and pelvis revealed ground glass opacities involving bilateral lung apices and dependent portions of the lower lobes, consistent with aspiration pneumonia, and hepatomegaly with hepatic steatosis (Figures -). Anti-mitochondrial antibody assay, HFE gene mutation analysis, ceruloplasmin, viral hepatitis panel, alpha-1 antitrypsin level and anti-smooth muscle antibody assay were sent to evaluate the elevated liver enzymes and were negative. Magnetic resonance cholangiopancreatography (MRCP) did not reveal any biliary pathology. A bedside swallow evaluation revealed oropharyngeal dysphagia and X-ray of the hands revealed juxta-articular osteopenia (Figure ).
An ultrasound-guided liver biopsy revealed severe diffuse macrovesicular hepatic steatohepatitis involving 80%-90% of the liver parenchyma, mild intracanalicular cholestasis, prominent Mallory-Denk bodies within ballooning hepatocytes and bridging fibrosis on trichrome stain (Figures -). Neurologic electrophysiology studies showed normal nerve conduction, fibrillation and positive waves in all muscles and low amplitude motor unit action potentials in the majority of the muscles studied, particularly in the proximal muscles. In summary, it showed electrophysiologic evidence of a diffuse myopathy with features of muscle membrane irritability. A subsequent muscle biopsy revealed atrophic fibers with a perimysial distribution (as seen in Figure ), increased immunohistochemistry (IHC) labeling for major histocompatibility complex (MHC) 1 (as seen in Figure ), and capillary complement staining (as seen in Figure ), suggesting an autoimmune myositis. There were no features to suggest autoimmune hepatitis. Near the end of her hospitalization, she developed confusion, progressive hypoxia, and succumbed to multi-organ dysfunction. |
pmc-6485530-1 | A 47-year-old Haitian male with no known past medical history presented to the emergency department in May 2018 with a one-year history of gradually progressive dry cough and dyspnea. He endorsed associated fevers, night sweats, anorexia, and symmetric polyarthralgias in the hands, wrist, elbows, shoulders, and knees. Review of systems was negative for weight loss, alopecia, dry eyes, dry mouth, mouth sores, and photosensitivity. The patient denied sick contacts, recent travel, tick bites, pets, or exposure to birds. He works as a cook, and denied any industrial exposure, alcohol consumption, smoking, or illicit drug use. He has no known family history. He has no allergies and takes no medications or supplements.
On initial presentation, he was in mild respiratory distress, tachycardic, and febrile. He was normotensive and saturating 98% on room air. Pulmonary exam revealed fine inspiratory crackles diffusely over the bilateral lung fields. He did not have any abnormal heart sounds or murmurs. The abdomen was soft and non-tender without organomegaly. Musculoskeletal exam revealed symmetric swelling and tenderness of the bilateral wrists, elbows, shoulders, and knees. Several metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints of the hands were also affected. There was no muscle tenderness or decreased strength or sensation. Several shallow ulcers and fissures were present on the fingertips along with hyperpigmentation of the knuckles and creases of palms (Figure ).
Electrocardiogram was normal aside from sinus tachycardia. Initial laboratory studies demonstrated a marked lymphopenia, erythrocyte sedimentation rate 40 and aspartate aminotransferase 95. Otherwise, renal, liver, and thyroid tests were normal. Creatinine kinase was near the upper limit of normal at 179 units per liter. Chest computed tomography (CT) revealed a large right basilar consolidation, diffuse ground-glass opacities, small bilateral effusions, and diffusely and enlarged mediastinal lymph nodes. No honeycombing or cavitary lesions were identified. The patient was started empirically on antibiotics for pneumonia. Blood, sputum, and urine cultures were negative. His CD4 returned at 158 cells per microliter, although human immunodeficiency virus (HIV) screening was negative despite repeated testing of both antibodies and polymerase chain reaction (PCR). Subsequent infectious workup including mycoplasma, legionella, tuberculosis, hepatitis, syphilis, and parvovirus, was negative. Initial rheumatologic workup revealed a weakly positive anti-nuclear antibody (ANA) titer of 1:80 dilution. Anti-rheumatic factor (RF), anti-cyclic citrullinated protein (CCP), anti-neutrophilic cytoplasmic autoantibodies (ANCA), anti-smith, anti-ribonucleoprotein (RNP), and myositis panel were nonreactive. Fiberoptic bronchoscopy with bronchoalveolar lavage was performed for diagnostic clarity, which revealed no fluid, hemorrhage, or tumor. Lavage samples were negative for infections including pneumocystis. Transthoracic echocardiogram was unremarkable without evidence of heart failure, valvular abnormalities, or endocarditis.
During hospitalization, the patient continued to have dyspnea and fevers as well as worsening joint pains. The differential diagnosis at this time included inflammatory arthritis, seronegative rheumatoid arthritis, idiopathic inflammatory myopathies, anti-synthetase syndrome, and cryptogenic organizing pneumonia. Less likely etiologies included allergic interstitial pneumonia, sarcoidosis, vasculitis, paraneoplastic syndrome, lymphoma, cytomegalovirus (CMV) pneumonia, and human T-lymphotropic virus infection. Due to the progressive arthralgias, lack of response to antibiotics, and unremarkable infectious workup, an autoinflammatory disease was favored. Rheumatology was consulted and prednisone was initiated with a subsequent rapid symptomatic improvement of his polyarthralgia in the subsequent days, although his dyspnea on exertion only minimally improved. The patient was discharged home on a prednisone taper but returned to the hospital several months later with worsening dyspnea and recurrent polyarthritis.
After a repeated bronchoscopy was unrevealing, a thoracoscopic wedge biopsy was performed and was consistent with cryptogenic organizing pneumonia. Repeat myositis panel at this time showed positive antibodies to MDA5 by line immunoassay. Autoimmune testing was otherwise unchanged. Peripheral blood smear and bone marrow biopsy showed no evidence of blood cell dyscrasias. Imaging of the head, chest, abdomen, and pelvis was unremarkable. A repeat echocardiogram showed new-onset heart failure with an ejection fraction of 30% to 35%. Cardiac ischemic workup was negative. Cardiac magnetic resonance imaging (MRI) was negative for wall motion abnormalities or infiltrating diseases.
A diagnosis of dermatomyositis (DM) was made based on clinical findings, anti-MDA5 positivity, and lung biopsy. The subclinical muscle enzyme elevation led to a more specific diagnosis of hypomyopathic DM. Despite the absence of muscle weakness on examination, the slight elevations of muscle enzymes such as creatinine kinase and aspartate aminotransferase prevent this from being classified as amyopathic DM. This diagnosis was obscured by the initial negative myositis panel as well as the idiopathic CD4 T-lymphocytopenia, which is not well described in hypomyopathic DM patients. The patient was placed on immunosuppression therapy with mycophenolate mofetil and continued on low dose prednisone. He continued close outpatient follow-up with rheumatology, pulmonology, and cardiology. |
pmc-6485538-1 | A 55-year-old morbidly obese female with insulin-dependent diabetes mellitus type 2 (IDDM2), hypertension (HTN), and hyperlipidemia (HLD) was admitted to the medical intensive care unit (MICU) for septic shock with a complicated hospital course, including an upper GI bleed due to a large ulcer on the anterior wall of the duodenal bulb with a pulsating vessel. Esophagogastroduodenoscopy (EGD) was performed and two clips were deployed on the bleeding vessel. Interventional radiology (IR) performed elective prophylactic arterial embolization and placed five coils in the gastroduodenal artery (GDA) with post-embolization contrast administration imaging which demonstrated lack of flow in the GDA.
The patient’s clinical course improved over the next 11 days and she was extubated with her blood pressure (BP) at 97/57. That evening, the patient was found with a BP at 50s/30s, worsening mental status, and over 1 L of melena on physical exam. GI was consulted stat for EGD, IR and surgery consults were called, massive transfusion protocol (MTP) was initiated, intravenous (IV) access was obtained, proton pump inhibitor (PPI) bolus was given, empiric antibiotics (abx), blood work was drawn, fluids and levophed was given, and anesthesia reintubated the patient. An arterial (A) line that was then placed measured systolic BP at 60s after five units of packed red blood cells (pRBC) and fresh frozen plasma (FFP). The patient was placed on vasopressin. The patient continued to have active melena with new bright red blood per rectum and hematemesis. She began second MTP and an EGD was attempted at bedside and aborted with the following findings: large amounts of clotted blood in the lower third of the esophagus and large amounts of bright red blood and clots in the entire stomach impairing visualization. The patient was started on third MTP and the computed tomography angiogram (CTA), as seen in Figure below, showed active extravasation within the duodenum likely arising from the superior pancreaticoduodenal artery. The patient was taken to the IR suite, was started on the fourth MTP, was responsive to the MTP and pressors, and maintained a BP of 90s/70s. The results of IR intervention were as following: celiac angiography showed some coils packed in GDA, superior mesenteric artery (SMA) angiography showed active extravasation of contrast from the superior pancreaticoduodenal artery, successful glue embolization of the superiorpancreaticoduodenal artery, completion angiography of the celiac axis, and SMA showed no active extravasation. The patient returned from IR with a stable BP of 90s/70s. Over the next 20 minutes, over 1 L of bright red blood was collected from the oral gastric tube (OGT) suction without new melanotic stool and the BP started to decrease. The MTP number five was started and the patient went with surgery to the OR.
In the OR, surgery found and performed the following: in the peritoneal cavity, a distended stomach with blood was noted along with blood within the small intestine. A longitudinal duodenotomy was performed and bright red blood as well as clots was visualized. A 2-cm ulcer was noted in the posterior wall of the first portion of the duodenum. Within the ulcer, oozing of blood was noted. The previously placed endoscopic clip was noted. Also noted was what appeared to be coils, probably from the IR procedure. Two stay sutures were then placed at 12 o'clock and 6 o'clock positions using 3-0 silk suture material. Following this, exposure of the ulcer was obtained by suctioning the blood out. A 3-0 silk suture was then placed just superior to the ulcer in the posterior wall of the duodenum. This was then ligated. A similar suture was placed at 12 o'clock in the posterior wall of the duodenum just along the inferior edge of the ulcer. This was then tied down. A silk suture, using 2-0 silk, was then placed to ligate the transverse branch. Following this, hemostasis was obtained. The area was then irrigated and observed to make sure that there was no further bleeding. In the OR, the patient received another three units of pRBC, two units of FFP, and one unit of platelets. At this time the patient had a received a total of 28 units of pRBC, 27 units of FFP, and six units of platelets. The patient was then transferred to the surgical intensive care unit (SICU) and remained on the service for 10 more days with stable hemoglobin not requiring additional transfusion. During the SICU course, the patient had few episodes with melena, no episodes of bright red blood per rectum (BRBPR), and one episode of hematemesis. After 10 days the patient was transferred to the medicine floor team and is currently stable and clinically improving. |
pmc-6485539-1 | A 60-year-old man with a history of heavy ethanol abuse presented with three weeks of worsening shortness of breath associated with positional chest pressure improved by sitting forward. He denied other upper respiratory symptoms including nasal congestion, sore throat, or cough. An electrocardiogram (EKG) showed new-onset atrial fibrillation and diffuse ST segment elevations (Figure ).
Subsequently, a transthoracic echocardiogram was done revealing a large, greater than 2 cm, pericardial effusion with greater than 30% variation of mitral inflow velocity with impairment of the right ventricular filling consistent with tamponade physiology. The patient underwent a pericardial window which yielded 300 mL of serous fluid with evidence of epicardial and pericardial inflammation. Pericardial fluid studies were significant for inflammation without an infectious or malignant source at that time. Other studies including human immunodeficiency virus (HIV), antineutrophil cytoplasmic antibodies (ANCA), hepatitis panel, Ehrlichia chaffeensis titers, and Lyme titers were all negative. Computed tomography (CT) angiography of the chest ruled out pulmonary embolism but revealed a right lower lobe pulmonary nodule. For the nodule, he underwent a CT-guided lung biopsy demonstrating organizing pneumonia (Figure ).
Repeat EKG was performed for worsening respiratory distress and demonstrated a moderate pericardial effusion and constrictive pericarditis with severe right ventricular dysfunction. The patient decompensated requiring intubation, Swan-Ganz catheter placement, and vasopressor and inotropic support. At this time, pericardial fluid studies, bronchoalveolar lavage, and respiratory cultures were done earlier started to grow N. farcinica, prompting consultation of the infectious disease team and initiation of antibiotics including imipenem/cilastatin, linezolid, and sulfamethoxazole/trimethoprim for disseminated nocardiosis. In this case, the only predisposing factor for disseminated nocardiosis was his chronic alcohol abuse. |
pmc-6485757-1 | In February 2018, a previously healthy 19-month-old boy was admitted to our hospital because of febrile illness. Nine days previously he had a fever of unknown origin at 38°C without rash, runny nose and cough. Before admission, he received 4 days’ treatment of pediatric paracetamol, artificial cow-bezoar, ibuprofen suspension, and cefatriaxone, however, after the treatments; he still had fever up to 39.5°C. He developed paroxysmal barking cough at 1 day before admission. On admission, he was found with hoarse voice, mild breathing dyspnea in quiet, no irritability and cyanosis, throat swabs virus test showed “influenza A virus antigen positive”.
On examination, he was alert and upset. He febrile to 38°C had a pulse rate of 138/min, respiratory rate of 38/minute, blood pressure of 85/52 mmHg, and blood oxygen saturation of 94% in room air. His hips were slightly flush, and his finger-end (toe-end) was red but not swollen. No rash in the body, no tenderness, no hyperemia in his bulbar conjunctiva, no chap, and no strawberry-like tongue was noted. There was weak positive tri-retraction sign, and double lung had a laryngeal conduction sound. The heart sounds were normal, the abdomen was flat and soft, the liver and spleen were not touched under the ribs, and the systema nervosum was not abnormal. Chest radiograph and electrocardiogram were normal.
Blood test showed that leukocytes count was 11.15 × 109/L (49% neutrophils; 34% lymphocytes), platelet count was 195 × 109/L, C-reactive protein was 42.88 mg/L, Hypersensitive C reactive protein>50 mg/L, erythrocyte sedimentation rate was 69 mm/h, procalcitonin was 0.25ng/mL, liver and kidney function, myocardial enzyme, electrolyte were normal. Both EBV-DNA and antibody series were negative. Mycoplasma pneumoniae, Chlamydia pneumoniae antibody and tuberculosis antibody were negative. Respiratory syncytial virus, adenovirus, and parainfluenza virus antigen were negative. Blood culture was negative. Further examination of influenza virus nucleic acid for nasopharyngeal secretions was positive, and the influenza virus confirmed as influenza A (H1N1) pdm09 virus. B lymphocyte ratio (CD19+/CD45+) was 26%, B lymphocyte count (CD19+) was 840 cells/μL, Th/Ts ratio (CD4+/CD8+) was 3.79, and the counts and proportions of T lymphocytes and NK cells were normal.
Admission diagnosis was “influenza, acute laryngitis and second-degree larynx obstruction”. After admission, he received treatments including paramivir, latamoxef, dexamethasone, oxygen therapy, and so on. However, his fever was not relieved after the treatments. On the seventh day of the fever onset, B-ultrasound showed that the inner diameter of the left main coronary artery was dilated, and the double coronary artery was not smooth. After consultation with experts in KD, he was diagnosed as IKD and received treatments including human immunoglobulin (2 g/kg), aspirin (30∼50 mg/kg.d) and dipyridamole (3∼5 mg/kg.d). After 24 hours of human immunoglobulin infusion, his body temperature returned normal. After hospitalization for 6 days, his symptoms disappeared and discharged from the hospital. He continued to receive oral aspirin (10–15 mg/kg.d) treatment after discharge. The fiftieth days after the onset of the disease, the coronary artery was checked by echocardiography, and he was well-recovered. The results of disease course and the related inflammatory markers for this child were shown in Table . |
pmc-6485822-1 | A 60-year-old woman was referred for surgery with the diagnosis of right ovarian mature teratoma. The diagnosis of ovarian teratoma was made due to a “fat fluid level” noted on transvaginal ultrasound, and confirmed on computed tomography (CT) scan (Fig. ). The patient was asymptomatic, tumor markers were in the normal range. The adnexa and the uterus appeared to be normal at laparoscopy, a 5-cm retroperitoneal capsulated solid mass was noted in the posterior sheet of the right broad ligament (Fig. ). The mass was radically resected and retrieved in a bag. Prophylactic bilateral salpingoophorectomy and endometrial biopsy were also performed. On hystology, adipocyte proliferation with different maturation stages was noted, as well as spindle cells with hypercromatic nuclei, inflammatory cells, and mast cells. The diagnosis of WDLPS (Fig. ) was made. The patient's postoperative course was uneventful. Upon discharge, abdominal and pelvis CT scan as well as magnetic resonance image (MRI) were offered alternately every 6 months. Eighteen months after WDLPS resection the patient was disease free.
Ethical approval was not necessary for case report publication; and patient written informed consent was obtained to collect data and images for publication. |
pmc-6485828-1 | A 50-year-old male presented with a 1-day history of abdominal bloating and distension, without nausea, vomiting, or diarrhea, and with normal defecation. He denied any history of diabetes or prediabetes, obesity, abdominal trauma, gallstones, and any surgical history. On physical examination, abdominal bulging and mild epigastric tenderness was detected. On the first day of admission, laboratory evaluation showed a normal hematocrit, amylase, lipase, glycerin triglyceride, total protein, and total bilirubin (Table ). Urinalysis and chest x-ray were unremarkable. Abdominal ultrasound showed a normal gallbladder and liver with normal intrahepatic and extrahepatic bile ducts. Computed tomography (CT) of the abdomen and pelvis showed no fluid in the abdominal cavity, no swelling in the pancreas, and no bowel edema, hematoma, bowel distension, or ileus (Figs. and ). We therefore diagnosed pancreatitis. The patient was treated with fasting, gastrointestinal decompression bowel rest, intravenous rehydration, and somatostatin. After 2 days of treatment, abdominal distension was significantly relieved. On the fourth day of admission, laboratory evaluation showed that leukocytes and neutrophils were restored to normal, and amylase, lipase, and liver findings were also normal (Table ). Computed tomography (CT) of the abdomen and pelvis showed a hypodense lesion in the pancreas surrounded by a moderate amount of peripancreatic fluid (Fig. ). The patient was discharged on the seventh day of admission. At the 3-month follow-up, the patient had no recurrence of pancreatitis. The study was approved and monitored by the ethics committee of Zhejiang Provincial People's Hospital (KT2017030). |
pmc-6485830-1 | Our patient is a 54-year-old female with a past medical history of hypothyroidism and very severe obesity (BMI 48 kg/m2). She underwent laparoscopic gastric sleeve surgery in the year 2012. Results were non-satisfactory in terms of weight loss with a difference of 6 kg/m2 in BMI post-procedure. So after six years, she underwent a laparoscopic biliopancreatic diversion with a duodenal switch. She had an uneventful postoperative recovery period. An upper gastrointestinal (GI) study contrast post-procedure did not reveal any evidence of obstruction or leak. The patient was discharged home two days after the procedure. A few days later, she started experiencing three episodes of nausea with brown-colored vomitus. She was found to be septic, with a heart rate of 110 beats per minute and temperature of 100.2oF. Her white blood cells count was 12/mm3.The source of infection was presumed to be intraabdominal considering her symptoms. Computed tomography (CT) of the abdomen and pelvis showed mildly dilated proximal small bowel loops. The patient was started on empiric antibiotic therapy with ceftriaxone 1 gm intravenous (IV) daily and metronidazole 500 mg IV every eight hours. Symptoms did not improve, so she was taken back to the operating room for diagnostic laparoscopy. Partial small bowel obstruction was noted along with ischemia of a segment of the ileum that was part of the duodenoileostomy due to mesenteric dissection. She underwent an open revision of the small bowel anastomosis with resection and anastomosis for the obstruction revision of the duodenoileostomy. Her hospital stay post-surgery remained uneventful. Diet was advanced gradually throughout the hospital course and a week later, the patient was discharged home with outpatient follow-up. Three weeks after that procedure, she noticed a productive cough with thick, yellow, foul-smelling phlegm and shortness of breath. She saw her primary care physician. A chest X-ray performed showed a right lung infiltrate with a right-sided pleural effusion. She was started on treatment with augmentin 500 mg/125 mg every eight hours. Her symptoms became worse so she came to the emergency room. Her vitals showed blood pressure 129/79 mmHg, heart rate 86 beats per minute, respiratory rate 20 breaths per minute, and temperature 98.6oF. Pulse oxygen saturation was 97% on room air. Mild leukocytosis was evident (white blood cells count 11.4/mm3 with no bands or left shift). A chest CT showed loculated, right-sided hydropneumothorax with almost total collapse of the right lung (Figure ).
There was a fistulous connection evident, extending from the surgical anastomosis in the stomach/bowel in the right upper quadrant through the right hemidiaphragm to the right hemithorax. These CT scan findings were new as compared to a CT scan obtained for this patient six months prior to the duodenal switch when she presented to the emergency department for non-specific left-sided chest pain. To analyze the anatomy of the fistula further, an upper gastrointestinal fluoroscopic contrast study was performed that showed a large fistula from the distal stomach prior to the duodenal bulb opening to the right pleural cavity (Figure ).
Consultations from gastroenterology and cardiothoracic surgery teams were obtained. Chest tube drains were placed with the plan of eventually performing a video-assisted thoracoscopic surgical decortication. Post-procedure CT showed patent chest tubes draining the right pleural cavity. The drained fluid was exudative in nature as per Light’s criteria (fluid lactate dehydrogenase > 12,000 u/L and total protein ratio = 0.7) and culture from the right lung empyema grew Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, and Candida albicans. An infectious disease consultation was placed at this time. The patient was started on levofloxacin 750 mg IV daily for two weeks as per the sensitivity result obtained for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa. Micafungin 100 mg IV daily was started for the infection with Candida albicans. This was later switched to Diflucan 400 mg IV daily for a total of two weeks. Repeat cultures from the draining fluid were negative toward the end of the second week.
For treatment of the fistula, the patient was transferred to another facility for esophagogastroduodenoscopy (EGD) and possible clipping of the fistula due to the unavailability of that particular service in our hospital. As a result, there was a delay of 16 days from admission to the treatment of the fistula. When the EGD was performed, it showed that there was no anastomotic leak from the previous surgery. No evidence of any stricture was identified at the previous anastomosis. A small fistulous tract was noted in the distal part of the antrum likely secondary to ulcer formation that was noted in very close proximation to the fistula tract. An endoscopic clipping was performed. A post-procedure contrast study performed on the same day revealed complete closure of the fistulous opening. The patient was transferred back to our facility after the procedure. An upper GI contrast study performed two days later showed residual leakage from the distal stomach to the right upper quadrant. A repeat EGD was performed along with fulguration of a fistulous opening with argon beam coagulation and repeat orthoscopic clip application with complete obliteration of the fistula tract. This was confirmed by an upper gastrointestinal contrast study showing no persistent fistulous communication between the post-bulbar duodenum and pleural space (Figure ).
After confirmation of fistula obliteration, a video-assisted thoracoscopic surgery was performed followed by the washout of the right pleural space with the placement of a right-sided chest tube. The patient was discharged home after the procedure and has been followed by multidisciplinary teams on an outpatient basis. |
pmc-6485835-1 | A 17-year-old male was transferred to our hospital on Feb 2, 2018, for prolonged fever (1 month) and disturbances in consciousness lasting 3 days. Before illness he had been healthy, but upon admission, pulmonary computed tomography (CT) scans (Fig. [A]) and Xpert analysis of cerebrospinal fluid (CSF; positive for Mycobacterium tuberculosis) indicated tuberculous meningitis. After hospitalization, anti-tuberculosis drugs (rifampin, isoniazid, pyrazinamide, ethambutol, and linezolid) and low-dose dexamethasone were administered via intrathecal infusion; intracranial pressure was managed via dehydration, diuresis, and intracranial drainage (Fig. [B]).
Nine days after admission, the patient's mental status had not improved. Moist rales and sputum in the cavum oris had significantly increased, and the patient experienced a sudden onset of fever (40°C) with symptoms of restlessness and shortness of breath. His peripheral oxygen saturation dropped to 75%. Tracheal intubation was performed; IV piperacillin-tazobactam (4.5 g every 8 h) was administered for infection and the patient was transferred to the intensive care unit.
On the 24th day, a slight fever remained. Amikacin (0.5 g daily) was added to the patient's antibiotic regimen and he underwent a tracheotomy, but the low fever persisted (around 38°C). A moderate amount of yellow sticky phlegm was duly aspirated from an incision in his trachea.
On the 30th day, the high fever returned. The patient's temperature rose to 39.5°C and he began experiencing chills. His CSF turned yellow and obviously turbid. His white blood cell (WBC) count was13.8 × 109/L, neutrophilic granulocyte percentage (NEUT%) was 87.10%. Results of routine CSF tests were as follows: cell count, 1560 × 106/L; WBC, 310 × 106/L; and acid-fast stain, negative. Empirical treatment with vancomycin (1 g every 12 h) and meropenem (1 g every8 h) combined with fosfomycin (4.0 g every 8 h) was initiated.
On the 36th day, the patient's CSF culture implied an XDRAB infection that was only sensitive to tigecycline (minimum inhibitory concentration [MIC] = 1 μg/mL). A magnetic image of the patient's skull indicated an intracranial infection (Fig. [C]). In light of the poor BBB permeability of tigecycline, off-label IVT injections were considered. A therapeutic schedule of IVT tigecycline was instituted with permission from members of the patient's family. A clinical pharmacist performed a literature search to determine the dosage. Per her recommendation, tigecycline was diluted in saline up to a total volume of 5 mL, and 4 mg of tigecycline was slowly injected into the patient's ventricular system every 12 hours. During that procedure, his drainage tube was temporarily closed for approximately 2 hours. Meanwhile, meropenem was changed to cefoperazone-sulbactam (3 g every 8 h), and IV tigecycline (47.5 mg twice a day) and fosfomycin (4 g every 8 h) were added to the patient's regimen.
On the 40th day, the patient's body temperature began to gradually decline; but on the 45th day, his temperature showed an upward trend with an apex of 38.5°C. His CSF culture suggested an XDRAB infection that was sensitive only to tigecycline (MIC = 2 μg/mL). The clinical pharmacist advised changing from IVT to intrathecal infusions of tigecycline (4 mg daily) rather than increasing the IVT tigecycline dosage and changing cefoperazone-sulbactam to IV meropenem (2 g every 8 h) using an optimized 2-step infusion process (1 g over 0.5 h, then 1 g over 2.5 h). The pharmacist also suggested that fosfomycin is infused in dual venous channels; this was adopted by the clinician.
On the 52nd day after admission, the patient's CSF culture suggested an XDRAB infection that was only sensitive to tigecycline (MIC = 1 μg/mL).
On the 55th day, the patient's temperature returned to normal. The results of routine CSF tests were as follows: cell count, 30 × 106/L; WBC, 10 × 106/L.
On the 75th day, the patient's cultures were negative for 3 consecutive tests, and CSF acid-fast stains were negative. At that point, the antibiotics were discontinued, but the patient remained on anti-tuberculosis therapy. He was transferred to the rehabilitation unit for functional restoration.
At the 4-month follow-up, the patient was in good clinical condition without signs of CSF infection and tuberculosis (Fig. [D, E]).
Changes over the course of the patient's treatment are shown in the following table and figures: Table shows changes in the CSF; Figure shows changes in serum leukocyte and procalcitonin levels; Figure shows changes in the patient's body temperature. |
pmc-6485881-1 | An apparently healthy 33-year-old man had a 6-month history of primary infertility. He exhibited a well-developed male phenotype and was 175 cm tall and weighed 60 kg. Physical examination showed a normal male habitus except for slightly smaller testes. Scrotal echography showed the left and right testes were approximately 10 and 12 mL in volume, respectively. Repeated semen analysis revealed oligoasthenozoospermia. Hormone analysis showed FSH, LH, E2, serum PRL, and T levels were within the normal limits. Cytogenetic analysis showed that the patient had unbalanced Y-22 chromosome translocations, although the exact position of breakpoints was unclear. With informed consent, the patient's parents refused to undergo cytogenetic investigations. Male patients suggested the presence of the SRY gene. Hence, we assumed that the karyotype was 45,X,der(Y;22) (Fig. ). After genetic counseling, karyotype analysis showed his father was 45,X,der(Y;22). We further examined AZF microdeletions. Clinical features of this patient included oligoasthenozoospermia, which suggested the presence of the Y chromosome AZF gene. The sequencing results showed the presence of SRY. Y-chromosome microdeletion analysis showed the presence of AZFa, AZFb, and AZFc regions, and the deletion of b2/b3 and duplication of b3/b4 regions. After genetic counseling and informed consent, this patient will seek assisted reproductive technology treatment combined with preimplantation genetic diagnosis. |
pmc-6485888-1 | A 20-year-old Chinese man complained fever, cough, and weakness for 2 months. In May 2016, he was referred to our hospital. The patient had no family history of malignancy. Blood routine examination indicated severe anemia (hemoglobin 42 g/L), visible immature cells (12%). There was 72% blasts in bone marrow aspirate and flow cytometric analysis revealed a population of abnormal cells (86.53%) with immunophenotype of CD19+, cCD79a+, CD34+, HLA-DR+, TDT+, CD10+ (partially), dimCD22+, dimCD33+, CD20−, cCD3−, CD7−, which suggested ALL (common B-ALL). As the chromosome was normal and no BCR/ABL fusion gene was found, he was diagnosed with Philadelphia chromosome-negative ALL. Then he was treated with a cycle of VDCP (vincristine, doxorubicin, cyclophosphamide, prednisolone)-like induction chemotherapy. At the end of 1st cycle, the bone marrow minimal residual disease (MRD) was <0.01%, which indicated molecular complete remission (CR). Then he was administrated 2 courses of HD-MTX (high-dose methotrexate), 1 course HD-MTX plus l-asparaginase, 3 courses of CAM (cyclophosphamide, cytarabine, 6-mercaptopurine), 1 course of MA (mitoxantrone, cytarabine) as consolidation chemotherapy, and 6 intensive intrathecal injections of methotrexate, dexamethasone, and cytarabine to prevent central nervous system (CNS) infiltration. During this period, bone marrow morphology or MRD all suggested molecular CR. In December 2017, he felt right ear progressive hearing loss, otalgia, aural fullness. Hospitalized in Department of Otolaryngology in January 2018, oto-endoscopic examination revealed a pitchy mass occluding the right external auditory canal (EAC) and tympanic membrane was not visible. Pure tone audiometry showed a right conductive hearing loss. The temporal bone computed tomography (CT) scan showed a soft-tissue density occupying the right EAC, middle ear, and mastoid antrum (Fig. ). Then a mass excisional biopsy was performed, the histologic examination indicated a small round cell tumor. The immunohistochemistry (IHC) analysis was positive for MYC (45%), BCL-2 (70%), CD10, CD79a, PAX-5, and negative for MUM-1, BCL-6, CD3, CD20 (repeated 3 times), and CD5 (Fig. ). The immune-proliferative activity (Ki-67 index) was about 80%. The patient was diagnosed with CD20-negative DLBCL coexpressing MYC/BCL-2. According to the Hans classifier,[ it was classified as germinal center B (GCB) type. Given the lack of CD20 expression, specimens were sent to the West China Hospital, Sichuan University for pathology consultation. They obtained similar IHC staining with a higher Ki-67 index (90%), MYC (70%), and BCL-2 (80%). Moreover, MYC, BCL-2, and BCL-6 translocation was negative in fluorescence in situ hybridization examination. He was hospitalized again in the Department of Hematology 1 month later in February 2018. Bone marrow morphology was CR for ALL. Laboratory examination showed elevated erythrocyte sedimentation rate 71 mm/h (normal: 0–15 mm/h). The lactate dehydrogenase, β2-microglobulin, human immunodeficiency virus (HIV) showed no abnormality. It was a pity that the patient was not examined by positron emission tomography–CT and we were unable to determine the disease stage accurately. The patient was administrated a course of EPOCH (etoposide, cyclophosphamide, doxorubicin, vincristine, prednisone)-like chemotherapy regimen. He eventually gave up and died of severe infection in June 2018. |
pmc-6485890-1 | A 53-year-old woman with a more than 23-year history of chronic indigestion, reflux, abdominal pain and excessive diarrhea, and a more than 21-year history of CD presented to the clinic on December 11, 2017. The patient had no specific medical conditions within her family history. She had no prior history of alcohol consumption and she was a nonsmoker.
The patient first experienced symptoms of persistent diarrhea and abdominal pain in 1994. In 1997, she underwent comprehensive testing including stool cultures, gastroscopy, colonoscopy, and small bowel biopsy and numerous blood tests, which ultimately confirmed very active small bowel CD and a small patch of colitis at her terminal ilium, palpable hemorrhoids, lactase deficiency, and shallow duodenal ulcers. Thorough treatment of the duodenal ulcers and a lactose-free diet made no difference to her complaints. Stools were greater than 10 per day without medication and often 1 or 2 at night.
CD was managed with pharmacologic therapy mesalazine (500 mg Bid Po), prednisone (75 mg Qd Po to induce remission and 5 mg Qd Po as ongoing maintenance dosage), and azathioprine (50 mg Bid Po). Although medication helped the patient to return to work and resume her daily life, the condition was not well controlled. She continued to suffer from blockages and symptoms of pain and vomiting, for which she required frequent hospitalization and in 2005 she underwent a bowel resection. Pharmacologic therapy was continued after surgery and helped to maintain symptom remission; however, the patient continued to experience blockages, accompanied symptoms of pain and vomiting, which occurred on a monthly frequency. As a result, in 2013, the patient received a second bowel resection and repair of strictures.
Following surgery in 2013, pharmacologic therapy was continued to manage the patient's symptoms mesalazine (500 mg Bid Po), prednisone (increased to 100 mg Qd Po to induce remission and 5 mg Qd Po as ongoing maintenance dosage), and azathioprine (increased to 50 mg Tid Po). Due to long-term side effects of the drug, prednisone was stopped in May 2017.
The patient presented with chronic indigestion, reflux, abdominal pain characterized by sensation of heat, and excessive diarrhea which caused her discomfort and decreased the quality of her daily life. The symptoms were chronic and were also aggravated by stress. She experienced abdominal pain and diarrhea 5 to 6 times a day. She continued to be managed using pharmacologic therapy azathioprine (50 mg Tid Po) and mesalazine (500 mg Tid Po). At the start of treatment, in addition to her daily regular medication, she was also taking Mylanta (Infirst Healthcare Inc., Westport, CT) (magnesium hydroxide 800 mg, aluminum hydroxide-dried 800 mg), and Gastro-Stop (Aspen Pharmacare Australia Pty Ltd, Victoria, Australia) (loperamide hydrochloride 4 mg Bid Po). The therapeutic effect was nevertheless poor; reflux and indigestion were unable to be relieved, and only minimal reduction was seen in diarrhea. Medication was unable to make apparent improvement to her symptom spectrum or improve quality of life.
The patient received acupuncture treatment on December 11, 2017. She was treated with acupuncture at an approximate frequency of once per week for a total of 21 sessions until November 5, 2018. The acupuncture points selected in this case are generally used to treat digestive and gastrointestinal diseases. The patient was in a supine position during acupuncture treatment. After the skin at the site of needle insertion was sterilized, disposable sterilized acupuncture needles were inserted at Ququan (LV 8), Quchi (LI 11), Zhongwan (CV12), Qihai (CV6), Zusanli (ST36), and Sanyinjiao (SP6). All points were needled bilaterally except for CV12, CV6, and LV8 which was needled on the left side. Deqi (the patient's feeling of heaviness and dull aching sensation due to the needles) was obtained at all points. Needles were retained for another 20 minutes without further stimulation. On February 5, 2018, the patient was commenced on granule-form Chinese herbal medicine (CHM) formula Tong Xie Yao Fang for 2 weeks.
During the intervention, the patient did not receive any further treatment from any other clinics or hospitals. In addition to receiving acupuncture treatment she continued taking her regular medications azathioprine (50 mg Tid Po) and mesalazine (500 mg Tid Po), Mylanta (magnesium hydroxide 800 mg, aluminum hydroxide-dried 800 mg), and Gastro-Stop (loperamide hydrochloride 4 mg Bid Po).
The therapeutic effect of acupuncture treatment was positive. Over the duration of the treatment period, the patient experienced marked improvement in her symptoms. By March 2018, the patient's symptoms were well managed; flare-ups of diarrhea, indigestion, reflux, and abdominal pain, occurred sporadically, and only due to diet-related factors. From March 2018, patient reported reduction of Gastro-Stop from 2 tablets per day to 1, reduction of abdominal pain and diarrhea from an average of 5 to 6 times a day to an average of 3 times a day. She reported that her symptoms were no longer aggravated during times of stress. She continued to receive acupuncture on a monthly basis from August 13, 2018 until November 5, 2018. At the end of the treatment period she reported 100% resolution in all of her symptoms: chronic indigestion, reflux, abdominal pain, and diarrhea.
Furthermore, the therapeutic effect of the CHM formula Tong Xie Yao Fang was also positive. The patient reported provided immediate relief of indigestion, reflux, and abdominal pain after taking CHM. She continued to take the formula only on an as-needed basis, whenever she experienced flare-ups of indigestion, reflux, and abdominal pain caused by diet-related factors. |
pmc-6485895-1 | We reported a case report of a 55-years-old male who received resection of right cerebellar occupying lesions 3 years ago. Postoperative pathology suggested large cell neuroendocrine carcinoma of the lung. In the past year, the patient had instable gait, dizziness, headache, and cough, and visited our hospital due to continuously aggravating symptoms. Positron emission tomography-computed tomography (PET-CT) examination suggested left cerebellar lesion with local hemorrhage, and chest computed tomography (CT) suggested soft tissue nodules in the left and right main bronchi (Fig. ). Based on relevant examinations, the patient was diagnosed to have recurrence of pulmonary large cell neuroendocrine carcinoma with intracranial metastasis. As the patient had a special lesion in the airway, our anesthesiologist advised the patient for further detailed examination. Yet during the preparation of examination, the patient developed aggravated conditions of sleepiness and dyspnea, and blood gas analysis indicated type II respiratory failure. Thus, emergency operation was performed immediately.
After entering the operation room, the patient was given intravenous drip of compound lactated Ringer's injection at 7 mL/kg/h. EGF monitoring and dorsalis pedis artery cannulation were performed for monitoring SpO2 and arterial pressure and provided a mask for oxygen inhalation at 6L/min. The baseline characteristics of the patient showed BP of 145/85 mmHg, SpO2 94%, HR 110 beats/min, and ECG showed no abnormalities. Anesthesia induction was performed using intravenous administration of sufentanil 20 μg, etomidate 20 mg, and rocuronium 50 mg. After 60 seconds of assisted ventilation with low tidal volume, a #7.5 tube was cannulated under glidescope guidance, and the depth was fixed at 23 cm. Auscultation of both lungs showed no significant abnormalities, so the ventilator was connected, the mode was set as mechanical ventilation, VT at 400 mL, and RR at 13 times/min. Anesthesia was maintained by 1.5%∼2.5% sevoflurane in combination with 50% O2 and 50% N2O, and intravenous infusion of remifentanil was also given to maintain BP within 120 to 140 mmHg, HR 80 to 100 beats/min, SpO2 95% to 100% and PETCO2 25 to 30 mmHg. Intraoperative hemodynamics remained stable, and the arterial blood gas analysis showed no significant abnormalities. However, during the operation, the patient showed 3 times of unexplained SpO2 declination, and the lowest level reached to 90%. After giving lung expansion, the SpO2 was increased to 95%. During surgery, the patient was asked to lie in a prone position, and the operation lasted for 3 hours and 47 minutes. 1.7U of red blood cells was infused, and the volume of compound lactated Ringer's injection was 1260 mL, colloid 1000 mL, and urine 450 mL. When the patient was recovered from anesthesia and showed spontaneous breathing, 1 mg of neostigmine was used for antagonizing muscle relaxation, and 0.5 g of doxapram for the excitation of respiratory center. However, when performing sputum suction, the sucking-tube was obstructed, and the SpO2 was dropped rapidly to 80% after sputum suction. Immediately, lung expansion with pure oxygen was performed, which led to no remission, but the SpO2 further declined to 55%. We then auscultated both the lungs and found no breathing sounds in the hilum, upper and lower lobes of the left lung. Blood gas analysis suggested pH: 7.281, PaCO2: 37.4mmHg, PO2: 38.8 mmHg, and Lac:4.2mmol/L. Thus, an intravenous infusion of 120 mL sodium bicarbonate was given, and lung expansion was continued with 100% O2 as well as sevoflurane. About 8 minutes later, the SpO2 was increased gradually to 100%. After that, the patient was sent to ICU, and he showed intolerance to tracheal cannulation approximately 20 minutes later. The doctor even after withdrawing the cannulation, the patient again showed breathing difficulty and sudden drop of SpO2, with the lowest level of 65%, and oxygen mask failed to relieve the condition. Auscultation of both lungs at the moment showed moist rales of the left lung, and the patient had much white foam secretions from his mouth. After full oral cavity aspiration, the trachea was cannulated and connected to a ventilator for assisted ventilation. The patient was also given symptomatic treatment including nebulization, diuresis and anti-inflammation, and reached weaning indications after 3 days of operation. Auscultation suggested weak respiratory sounds in the hilum and upper field of the left lung, and some moist rales were still audible from the lower left lung. The ventilator was weaned and cannulation was withdrawn, and the patient underwent CT examination. The results showed no abnormalities except for a slight increase in the amount of fluid in the left thoracic cavity (Fig. ). After that, the patient showed no breathing difficulties and was discharged on day 8 after surgery. |
pmc-6486389-1 | This case is of a 55-year-old female who initially presented with a palpable left neck mass. The mass had been noted by the patient 8 years ago and had progressively grown in size. A computed tomography (CT) of the neck was obtained, which demonstrated a 3.5 × 2.3 × 4.6 cm lesion deep to the left sternocleidomastoid (SCM) muscle in addition to a smaller 1 × 1 × 1.8 cm left posterior neck-enhancing mass. A fine needle aspiration (FNA) had been performed 2 years prior at an outside hospital with pathology indicating a low-grade spindle cell proliferation. She was thus referred to our institution for further evaluation. At the time of initial presentation to our group, the patient had noted dysphagia, left ear ache and tinnitus, and neck pain localized to the two masses. A positron emission tomography (PET) CT was performed, which demonstrated increased fluoro-2-deoxy-
d
-glucose uptake in the high cervical mass and, to a lesser degree, in the mass located within the posterior triangle of the neck (
). The outside tissue blocks were reviewed at our institution and felt to be consistent with a peripheral nerve sheath tumor compatible with schwannoma from both lesions. Because of the patient's ongoing symptoms and because malignancy could not be completely excluded based on the results of the prior FNA, the decision was made to proceed with surgical excision of both lesions. Prior to proceeding, a magnetic resonance neurogram was obtained (
). Tractography demonstrated that the two lesions appeared to originate from the spinal accessory nerve and that apparent diffusion coefficient values were elevated in both masses, supporting the diagnosis of a less aggressive tumor (
).
The patient was taken to the operating room for surgical resection. The patient was positioned with her head turned slightly to the right with the neck extended (
). The smaller lesion was approached first through the posterior triangle of the neck. Stimulation mapping of the tumor was conducted. The tumor was found to be located on the distal spinal accessory (cranial nerve XI) nerve, with evidence of trapezius activation with nerve stimulation (
). After identifying no overlying nerve fibers, the tumor was removed en bloc. A separate incision was made in the upper cervical region to approach the larger second mass located lateral and deep to the SCM muscle, which was reflected medially (
). During dissection of the tumor away from the nerve, motor evoked potentials (MEPs) to the trapezius were lost. As the tumor was of significant size, view of the proximal aspect of the afferent nerve was initially obstructed. Distally, the tumor was mapped, and the fascicle of origin was identified, which appeared to activate the SCM. After significant debulking of the mass, the proximal fascicle of origin was identified but did not provide any muscle activation after stimulation. The tumor was therefore removed in its entirety. All parameters for brachial plexus monitoring remained stable.
Pathology for both lesions was consistent with schwannoma without malignant features. Next-generation sequencing analyzing the coding regions of 479 cancer genes as well as select introns of 47 genes using the UCSF 500 Cancer Gene Test revealed a small in-frame insertion at codon p.R177 of the Sox 10 gene. There were no identifiable alterations in NF1, NF2, LZTR1, SMARCB1, and TRAF7 genes. Despite the change in MEPs, the patient was noted to be full strength in all muscle groups in the left upper extremity including shoulder shrug and head turning immediately postoperatively. At follow-up, her neck pain and prior dysphagia had improved significantly. |
pmc-6486600-1 | A 10-year-old Caucasian male with a history of ASD, ID, attention deficit hyperactivity disorder (ADHD), hypotonia, growth and developmental delay was born to non-consanguineous parents of Ashkenazi Jewish ancestry, as a product of an in vitro fertilization twin pregnancy. He was delivered by Caesarian section at 34 weeks gestation, weighing 3 lb, 2 oz. He had poor growth with height and weight below the third percentile. A magnetic resonance imaging (MRI) of the brain at 2 years of age identified hypoplastic olfactory nerves and unusual configuration of the corpus callosum, showing a short dimension in anterior-posterior diameter and thinning of its body. His medical history is remarkable for delayed motor and speech milestones, hypotonia, bilateral cryptorchidism (surgically repaired), bilateral strabismus (surgically repaired) and constipation. He was diagnosed with ASD (age 5), ADHD (age 7), and ID (age 8). He takes Clonidine for ADHD and melatonin for trouble initiating sleep and frequent night awakenings.
G-banded karyotype, fragile X testing and chromosome microarray (CMA) were normal. WGS identified a de novo KMT2A frameshift variant, c.10324delG (p.Ala3442Profs*17; Supplementary Fig. ). He was then clinically assessed at age 10 and diagnosed with WSS on the basis of characteristic facial features (Fig. ), short stature, microcephaly, generalized hypertrichosis, and aforementioned history of growth and developmental delay, hypotonia, constipation, and strabismus (details in Supplementary Table ).
As a part of this study, neurodevelopmental testing at 10 years, 3 months of age (Table ) was consistent with his previous diagnoses of ID, ASD, and ADHD. This assessment also identified emotional dysregulation and extremely low language and adaptive skills, but relative strength in vocabulary skills. We observed many repetitive and restrictive behaviours (e.g. fixation with technology, buses, music). Of note, he struggles with transitions between settings and activities, becoming easily upset and oppositional. Despite overall difficulties with social-communication, he demonstrates some appropriate skills, such as making good eye contact, sustaining short conversations, and asking/offering information, particularly when the topic revolved around his area of interest. |
pmc-6486600-2 | A 12-year-old Caucasian female with a history of ADHD, ID, growth and developmental delay, and hypotonia was born to non-consanguineous Caucasian parents at 36 weeks gestation with a birth weight of 5 lb, 9 oz. She had poor growth in infancy, with height and weight below the third percentile. Her medical history is remarkable for delayed motor milestones, a ventricular septal defect (which closed spontaneously), strabismus, hypotonia, constipation, recurrent upper respiratory tract infections, and Klippel−Feil anomaly. An MRI of the brain at 10 months of age identified mildly prominent cerebral spinal fluid spaces with age appropriate myelination. At 12 years of age she presented with episodes of rigidity and flexion of the arms with tremulous movements. An electroencephalography (EEG) was normal and the neurology team suspected the movements could represent self-stimulating behaviours. She was diagnosed with ADHD and ID (age 9) and generalized anxiety disorder (age 10). She also has obsessive compulsive traits (compulsive hand washing) and has received behavioural therapy throughout childhood to present.
Clinical genetic assessments at 1 year 8 months of age included clinical CMA, fragile X testing, and metabolic screening. The latter two tests were normal; the microarray analysis identified a maternally inherited 295 kb deletion at chromosome 4q31.3 (chr4:151,378,576−151,673,967) that was not suspected to be clinically significant. After we identified a de novo KMT2A frameshift variant, c.7087_7090del (p.Ser2363Leufs*12; Supplementary Fig. ) via WES, she was then clinically re-assessed at age 12 and diagnosed with WSS on the basis of characteristic facial features (Fig. ), generalized hypertrichosis (Fig. ), and the history of growth and developmental delay, hypotonia, constipation, and strabismus (Supplementary Table ).
As a part of this study, neurodevelopmental testing at 12 years, 2 months of age (Table ) was consistent with the previous diagnosis of ID, ADHD and anxiety disorder. The assessment also identified emotional dysregulation and extremely low language and adaptive skills, but relative strength in vocabulary skills. Standardized testing for ASD revealed that she met criteria on the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), but did not meet criteria on the Autism Diagnostic Interview—Revised (ADI-R). Based on overall clinical impression, she did not receive a diagnosis of ASD. Nevertheless, a pattern of restricted and repetitive behaviours was identified on the ADOS-2, ADI-R and parent report. She struggles with changes to routine and becomes easily frustrated. Of note, clinical impressions were of a socially motivated girl, whose relative strength in vocabulary masks her areas of difficulty and she presents as having a higher level of comprehension. |
pmc-6486600-3 | A 13-year-old Caucasian male with a history of ASD, growth and developmental delay and hypotonia was born to non-consanguineous Caucasian parents at term by caesarean section with a birth weight of 6 lb, 14 oz. His mother was on citalopram during the pregnancy for treatment of depression. He was diagnosed with grade five vesicoureteral reflux in infancy with a dysplastic kidney on the left. He experienced absence seizures at 3 months of age and again at 9 years. An EEG at 9 months of age was normal. A computed tomography scan of the brain at three months showed delayed myelination. A brain MRI at two and a half years showed hypoplastic olfactory nerves, a Klippel−Feil anomaly, and incomplete myelin maturation in the inferior frontal lobes and temporal tips. Growth parameters were at or below the third percentile throughout childhood. He was hypotonic and there was a history of severe constipation. All of his developmental milestones were delayed. At about two and a half years, he was diagnosed with ASD. At about 11 years of age, he had symptoms of anxiety and Oppositional Defiant Disorder (ODD) although no official diagnosis was given. He was trialled on several anti-anxiety medications with no effect and is currently on resperidone. He has received extensive behavioural therapy from the time of ASD diagnosis to the present.
Clinical genetic assessments at 3 and 5 years of age did not identify a specific genetic diagnosis. Clinical CMA, fragile X testing, and metabolic testing were reported to be normal. We identified a de novo KMT2A frameshift variant, c.6169del (p.Val2057Tyrfs*18; Supplementary Fig. ) via WGS. He was then clinically re-assessed at age 13 and diagnosed with WSS on the basis of characteristic facial features (Fig. ), microcephaly, hypertrichosis and history of growth and developmental delay, hypotonia, constipation, and ASD (details in Supplementary Table ).
As a part of this study, neurodevelopmental testing at 13 years and 1 month of age (Table ) confirmed previous diagnoses of ASD and ID. The assessment also identified emotional dysregulation and extremely low language/vocabulary and adaptive skills and symptoms of anxiety and ODD as reported previously. Concerns with attention were also endorsed by parents. Of note, he has significant difficulty with restricted and repetitive behaviours as identified by scores on the ADOS-2, as well as observations during the assessment. He struggled with transitions between settings and activities, becoming easily upset and requiring frequent breaks from work. Despite overall difficulties with social-communication, he demonstrates emerging skills, such as interest and engagement in social interactions as observed clinically and on multiple items on the ADOS-2. |
pmc-6486600-4 | A 25-year-old Caucasian male who was born to non-consanguineous Caucasian parents with a birth weight of 6 lb, 11 oz. has a history of short stature with growth consistently at the third percentile, hypotonia and delayed motor milestones. He was diagnosed with ASD (Asperger syndrome) at 10 years of age and had hyperlexia and symptoms of Tourette syndrome, specifically verbal tics.
Chromosomal microarray was performed on a research basis and the results were normal. After we identified a de novo KMT2A frameshift variant, c.7695_7696del (p.Glu2566Lysfs*14; Supplementary Fig. ) via WGS, he was clinically re-assessed at age 25 and diagnosed with WSS on the basis of characteristic facial features (Fig. ), history of generalized hypertrichosis, and history of growth and developmental delay, cryptorchidism, hypotonia, and ASD (Supplementary Table ).
Neurodevelopmental testing, as part of this study, at 25 years, 3 months of age (Table ) confirmed previous diagnoses of ASD. He has developed good social-communication skills over the years, which contributed to an ADOS-2 score below clinical cut-off. However, based on overall clinical impressions he continues to meet criteria for ASD with notable difficulties being flexible in conversations, providing insight into others’ emotions, and understanding subtle nuances in social situations. Abnormality in speech rhythm, intonation and volume were also noted. This assessment identified borderline cognitive skills, low average adaptive skills, and average language and vocabulary skills. No concerns around anxiety, attention, aggression and emotional regulation were endorsed by parents or through clinical observation. |
pmc-6486600-5 | A 5-year-old Caucasian male with a history of ASD, growth and developmental delay, microcephaly, hypotonia, and esotropia was born at term to non-consanguineous Caucasian parents and had a birth weight of 6 lb, 7 oz. At 2 months of age he was hospitalized for investigation of nonepileptic paroxysmal events, with recurrent agitation, fist clenching, movement of arms and legs and screaming. Investigations including EEG and barium swallow were reported to be normal. At 3 months of age he began experiencing feeding difficulties with poor growth (weight below the third percentile). Due to ongoing feeding difficulties, a G-tube was inserted at 11 months. A brain MRI at 11 months identified cystic lesions in the pineal region and the pituitary fossa. Repeat MRI at 3 years also noted a dysplastic corpus callosum, hypoplastic optic nerves and a Klippel-Feil anomaly. His medical history is also remarkable for microcephaly, hypotonia, esotropia, constipation, bilateral orchidopexy and surgery for a tongue-tie release. All of his developmental milestones were delayed. He was subsequently diagnosed with ASD at 5 years of age and is on the waitlist for behavioural therapy.
Initial clinical genetics assessment at 8 months of age included clinical CMA, metabolic investigations and molecular testing for Prader−Willi syndrome and spinal muscular atrophy, which were all negative. At 19 months of age, a gene panel of 392 ID genes (University of Chicago) identified a maternally inherited variant in CHRNA4 and not suspected to be clinically significant. To date, he does not have evidence of seizures. At three and a half years of age WES was clinically requested and identified a de novo missense variant in KMT2A, c.8543 T > C (p.Leu2848Pro). He was clinically re-assessed at 5 years of age and noted to have facial features characteristic for WSS (Fig. ), generalized hypertrichosis and the history described above (Supplementary Table ).
Neurodevelopmental testing, as part of this study, was conducted at 5 years, 1 month of age (Table ) and confirmed the previous diagnosis of ASD. Based on the ADOS-2, ADI-R, and clinical observations, he had most difficulty with flexibility, following another person’s lead, and sensory-seeking behaviour. Despite difficulties with areas of social-communication, he demonstrated motivation for social interaction and appropriate use of facial expressions. This assessment also identified extremely low cognitive, language and adaptive skills, leading to a diagnosis of ID. Of note, when his demands are not met, he exhibits aggressive and self-injurious behaviours as reported on the Child Behavior Checklist (CBCL) and ADI-R. We observed concerns around attention and scores on the CBCL were significantly elevated. Assessment of emotional regulation showed significantly elevated scores, indicating dysregulation. |
pmc-6486600-6 | A 5-year-old Caucasian male who was born to non-consanguineous Caucasian parents at term by Caesarian section with a birth weight of 7 lb, 11 oz. had poor growth in infancy, with height and weight below the third percentile. His medical history is remarkable for feeding difficulties with gastroesophageal reflux, a ventricular septal defect (which closed spontaneously), hypotonia, severe constipation (requiring hospitalization for bowel cleanout on several occasions) and recurrent urinary tract and upper respiratory infections. At 22 months of age he experienced seizures during the process of bowel cleanout. These were suspected to be related to hypoglycemia secondary to fasting. Investigations did not identify a metabolic aetiology for the hypoglycemia. An EEG identified abnormal epileptiform discharges. MRI identified a pineal cyst, craniocervical junction stenosis and a Klippel−Feil anomaly. He subsequently experienced several seizure-like episodes with eye-rolling and arm extension in association with intercurrent illnesses and stress related to medical procedures. A repeat EEG was reported to be normal. It was suspected that these episodes may be due to atypical vasovagal syncope. All of his motor milestones were delayed. A school behavioural assessment at 4 years of age noted concerns around non-compliance, physical aggression and tantrums, disruptive behaviours, and touching/taking other’s possessions. No diagnosis was given at this time, but extensive accommodations were implemented at school.
Initial clinical genetics assessment at 23 months of age included clinical CMA, and molecular testing for Russell−Silver syndrome and Smith−Lemli Opitz syndrome, which were all negative. He was re-assessed at 31 months of age and based on the observation of hypertrichosis (arms and back), dysmorphic facial features, failure to thrive and constipation, targeted testing of KMT2A was requested clinically, which identified a de novo nonsense variant, c.8095 C > T (p.Arg2699*). He was clinically re-assessed at 5 years of age as part of this study and noted to have facial features characteristic for WSS (Fig. ), generalized hypertrichosis and the history described above (see Supplementary Table ).
His first neurodevelopmental assessment was conducted as part of this study at the age of 5 years, 9 months (Table ), at which time he received a diagnosis of ASD and ID. He met criteria for ASD based on the ADOS-2, ADI-R and clinical judgement. He had most difficulty with repetitive interests, fixations with items, and transitions and changes in routine. He demonstrated shared enjoyment during social interactions, appropriate eye contact and facial expressions, and was able to point to objects of interest, indicating a relative strength in social-communication. This assessment also identified extremely low language and adaptive skills, but relative strength in receptive vocabulary skills. Of note, he demonstrates rigidity and poor flexibility in his behaviour and difficulty regulating his emotions, becoming easily upset and anxious when things are not done his way, which can lead to aggressive behaviours. Concerns around attention were significantly elevated based on the CBCL and clinical observations. He is currently on a waitlist for behavioural therapy. |
pmc-6486654-1 | A 67-year-old female patient who comes to emergencies for presenting lower extremity paraplegia She had a 3-year history of atrial fibrillation on treatment with apixaban 5 mg per day.
Patient presented sudden onset with dorsal pain followed immediately by bilateral lower extremity paresis that progressed to complete paraplegia with bowel and bladder dysfunction over 15 min. The patient was taken to a local hospital where an MRI was performed that demonstrated a SSDH extending from T4 to T7 with some intramedullary enhancement noted (Figs and ). Loss of sensory level from T10 up to ~T8 level. She denied upper extremity complaints.
Patient is taken to the operating room immediately, where a wide laminectomy was performed from T4 to T7, durotomy and drainage of subdural hematoma (Figs and ). No complications during surgery.
The 24 h post-operative patient persists with bowel and bladder dysfunction, mobilizes lower extremities (muscle strength 2/5). She initiates physical therapy and rehablitation.
Three months post-operative, full recovery of muscle strength, but still persists with bladder problems, but since they are mild.
One year post-operative, full recovery, she used for 4 months posture corrector (brace) for risk of kyphosis, control radiographs do not show increased thoracic kyphosis. Patient with complete satisfaction. |
pmc-6486685-1 | A 15-year-old Japanese boy was admitted to our hospital because of bloody stool. He had chronic otitis media at the age of approximately 2 years and purpuric lesions on his face and feet at the age of 9 years. At the age of 12 years, he had erythrocytopenia and thrombocytopenia (total white blood cells, 3.1 × 103/μl; red blood cells, 2.63 × 106/μl; hemoglobin, 9 .6 mg/dl; platelets, 7 × 103/μl) and was diagnosed with aplastic anemia.
Since progression of his aplastic anemia, treatment with steroid had been performed after high-dose gamma-globulin therapy at the age of 14 years at another hospital.
He had no smoking or drinking habit. His two brothers and parents had no symptoms. His parents are not consanguineous (Fig. ). On examination, his temperature was 36.4 °C, pulse 72 beats/min, blood pressure 132/64 mmHg, respiratory rate 20 breaths/min, weight 47 kg, and height 165 cm. He had no developmental disorders or intellectual disability. The results of his physical and neurological examinations were normal. His laboratory findings were as follows: hemoglobin 8.7 g/dl; hematocrit 26.1%; white blood cell count 1660/mm3 with 53% neutrophils, 32% lymphocytes, 13% monocytes, and 2% eosinophils; platelet count 47,000/mm3; red blood cell count 2,860,000/mm3; sodium 138 mmol/L; potassium 3.5 mmol/L; chloride 104 mmol/L; urea nitrogen 10 mg/dl; creatinine 0.54 mg/dl; glucose 95 mg/dl; total protein 7.2 g/dl; albumin 3.8 g/dl; alanine aminotransferase 30 U/L; aspartate aminotransferase 34 U/L; alkaline phosphatase 561 U/L; total bilirubin 0.8 mg/dl; and C-reactive protein < 0.3 mg/dl. His urinalysis values were as follows: specific gravity 1.020, protein negative, and glucose negative. Test results for antibodies to hepatitis B virus surface antigen, hepatitis C virus antibodies, human immunodeficiency virus antibodies, and Treponema pallidum antibodies were negative. Karyotype examination of peripheral blood was normal (46,XY).
Endoscopic examination showed an ulcerative tumor in the rectum (Fig. a), and barium enema demonstrated an excavated lesion with raised margins in the lower rectum (Fig. , arrowhead). Lower anterior resection with left lateral lymph node dissection were performed for rectal cancer. The tumor was a protruding 2.8-cm × 2.5-cm mass in the rectum with well or moderate differentiation (Fig. b) and full-thickness infiltration (pT4N1M0, stage IIIB). Neither KRAS nor BRAF mutation was detected in the rectal cancer. Dilation of the splenorenal shunt vein (7 mm), moderate splenomegaly, an accessary spleen, dilation of the portal vein system, and hepatomegaly were also observed. The patient had neither chronic hepatitis nor hepatic cirrhosis. Oral leukoplakia was observed when he was 17 years old. He was admitted to this hospital again because of bloody stool at the age of 18 years. On examination, his temperature was 36.8 °C, pulse 74 beats/min, blood pressure 102/56 mmHg, respiratory rate 23 breaths/min, weight 43,8 kg, and height 168 cm. The results of his physical and neurological examinations were normal. Endoscopic examination showed a superficial elevated tumor in the rectum (Fig. c). Metachronous rectal cancer was resected through transanal partial proctectomy. The tumor was a protruding 3.5-cm × 1.5-cm mass in the rectum with well or moderate differentiation (Fig. d) and submucosal infiltration (pT1N0M0, stage I). One year later, the rectal cancer recurred, and persistent anal bleeding and progressive pancytopenia were observed. The patient underwent bone marrow transplant at the age of 20 years. However, he died of progressive hepatic failure at the age of 21 years. Autopsy has not been performed. Because this patient developed juvenile-onset multiple rectal cancers and hematological malignancy, we suspected constitutive mismatch repair deficiency (CMMRD) syndrome, which is a childhood cancer predisposition syndrome especially including brain tumor, colorectal tumor, and hematological malignancies involving biallelic germline pathogenic variants of mismatch repair genes. However, microsatellite instability (MSI) testing with tumor tissue demonstrated low-level MSI, indicating that the possibility of CMMRD was low. In order to pursue further causes, whole-transcriptome analysis of frozen rectal cancer samples of the patient was conducted to elucidate the characteristics of the tumors, and the missense variant c.361A>G (p.Ser121Gly) in the DKC1 gene on chromosome X was detected (Fig. a). It was confirmed as a germline hemizygous variant in normal tissue. |
pmc-6486692-1 | An 83-year-old Japanese man presented to our hospital because of a third recurrence of HCC. He had nonalcoholic steatohepatitis-related cirrhosis, and underwent radiofrequency ablation for a partial HCC of S4/S8 in his liver 3 years ago. Because abdominal computed tomography (CT) revealed multiple HCC of S4/S8 and S2 in his liver 1 year ago, he underwent TACE therapy with an emulsified mixture of Lipiodol (ethiodized oil) and Farmorubicin (epirubicin) together with gelatin sponge particles for multiple tumors. After the second TACE, abdominal CT revealed sufficient Lipiodol (ethiodized oil) retention and the inefficacy of this treatment. However, follow-up CT showed a HCC recurrence in the left lobe 2 months ago. His medical history included reflux esophagitis, hypertension, and pancreatic carcinoma and he underwent pylorus-preserving pancreaticoduodenectomy approximately 5 years ago. His medications included amlodipine 5 mg, candesartan 4 mg, and esomeprazole 20 mg, all once daily. He was nondiabetic, did not smoke tobacco or drink alcohol, and had no history of any drug or food allergies. His family and social history were unremarkable. He appeared well on presentation. His body mass index was 26.2 kg/m2, with no noticeable body weight changes. He had an axillary temperature of 36.0 °C, a heart rate of 70 beats/minute, and blood pressure of 118/52 mmHg, with an oxygen saturation of 98% on room air at admission. No conjunctival pallor, icterus, cyanosis, or spider nevi were detectable on physical examination. Cardiovascular and respiratory examinations indicated normal jugular venous pressure and heart sounds, with no detectable murmurs, and normal breath sounds, with no crackle or wheeze. There were no particular abnormal physical findings. Laboratory studies indicated elevated creatinine and α-fetoprotein levels (Table ). Abdominal ultrasonography showed several hypoechoic masses in his liver; an abdominal plane CT showed multiple lesions with the greatest extent more than 40 mm in the left lobe of his liver (Fig. ).
Owing to our patient’s high risk of liver abscess after TACE because of his medical history of pancreaticoduodenectomy, the treatment course was carefully decided after consultation with our patient and his family. He underwent TACE with a hepatic arterial infusion of 20 mg epirubicin, followed by 4 mL Lipiodol (ethiodized oil) (Fig. ). A few days after undergoing the procedure, he was generally well except for mild symptoms attributed to postembolization syndrome. Despite antibiotic therapy (cefmetazole 3 grams daily) to prevent infection, he complained of fever, nausea, and hematuria on the sixth day after the procedure. He appeared unwell, severely jaundiced, and extremely restless. When his condition deteriorated, he had an axillary temperature of 39.0 °C, a heart rate of 110 beats/minute, and blood pressure of 90/40 mmHg. He presented with deterioration in hemoglobin levels and renal function, anemia, and a coagulation dysfunction. Furthermore, total bilirubin and direct bilirubin levels increased. Because elevated bilirubin and lactate dehydrogenase due to destruction of red blood cells showed hemolytic anemia, we performed a Coombs test for autoimmune hemolytic anemia to detect the presence of antibodies against red blood cells. However, the results for both the direct and indirect Coombs tests were negative. Based on our patient’s severe clinical course and laboratory data suggestive of hemolysis, intravascular hemolysis secondary to C. perfringens sepsis was suspected.
Because the embolic and necrotic lesion after TACE was suspected to be the focus of infection, we initiated antibiotic therapy (piperacillin/tazobactam 4.5 grams and clindamycin 600 mg) combined with surgical debridement. However, he died within 6 hours following unsuccessful cardiopulmonary resuscitation. An autopsy showed a 4-cm local, necrotic, hepatic tumor. The cut surface revealed a tumor with an internal spongiform appearance, which was a pseudocystic and partially necrotic lesion (Fig. ). In addition, a diffuse spread of Gram-positive rods in multiple organs including the heart was histologically confirmed (Fig. ). The culture obtained by fluid aspiration from the hepatic abscess revealed C. perfringens. |
pmc-6486694-1 | An otherwise healthy 43-year-old African Sudanese-Darfurian woman presented with a large genital mass causing difficulty in urination and sexual discomfort. The patient first noticed this “sometimes itchy mass” when it was very “tiny” while she was a teenager, and then it started growing over the last 10 years. The patient, who was married at the age of 16, had three full-term spontaneous vaginal deliveries at home without any complications. In her past medical history, there were no other chronic diseases or surgeries, except for FGM. She is living in a village with a large extended family and not working professionally. She does not consume alcohol and or smoke. The patient decided to seek medical attention at her husband’s request because she has not been able to tolerate coitus over the last 5 years because of the pain caused by the mass, which has been negatively affecting their family life because they wish to conceive again. The patient has a history of type III FGM when she was 8 years old. The FGM was performed by a nonmedical traditional practitioner in her village, without any additional history of trauma or surgery. After genital mutilation, she did not have any problem, and for this mass she had received no other treatment for years.
When she was admitted to our hospital, her blood pressure was 110/72 mmHg, and her body temperature was 36.8 °C. Her cardiac rhythm was regular, and all pulses were palpated normal. Her physical examination revealed no pathological findings other than the genital mass. The result of her neurological examination was normal. Perineal examination revealed a 6 × 10-cm, well-circumscribed, mobile, nontender, rounded, cystic swelling in the right periclitoral area that was obstructing the urinary meatus and vaginal introitus. The multilobulated mass was along the line of the previously performed type III FGM scar (Fig. ). The rest of the examination was normal. Ultrasound imaging suggested benign lobulations and septations in a cystic swelling. After informed consent was obtained, an elective surgery was performed with the patient under general anesthesia for total excision of the clitoral mass. Intraoperative findings included the presence of a well-demarcated, encapsulated subcutaneous cystic mass with a volume of 6 × 7 × 10 cm, filled with dark yellow “cheesy” keratinous material (Fig. ). In the microscopic examination, the cyst had a squamous epithelial wall with evidence of keratinous material in the lumen, and therefore it was diagnosed as an epidermoid inclusion cyst (Fig. ). The postoperative period was without any complications, and by the third-month visit, the patient had no anatomic or functional problems in the perineal region. The patient stated that the complete resolution of her complaints improved her quality of life as well as her relationship with her husband. In her follow-up, by the sixth and ninth visits, the operative side was clear, and there was not any hypertrophic scar tissue. The patient told us that she had not had any pain during intercourse after her surgery. |
pmc-6486957-1 | A 68-year-old Caucasian woman presented to our emergency department complaining of acute onset of severe abdominal pain in the right lower quadrant that began approximately 48 hours earlier; she had a temperature of 39.1 °C and heart rate of 98/minute. She denied any recent fever, chills, hemoptysis, hematochezia, or change in bowel habits. She had no history of trauma or surgery; she did not take any regular medication; she did not use an intrauterine device (IUD) or other local contraceptive. She had normal sex activity with the same partner (last sexual relationship 20 days before surgery). No relevant history of infection in her family was reported. On her presentation to our emergency room, a physical examination revealed a localized peritonism in the right lower quadrant. At rectal examination, a normal sphincter tone was found with no palpable masses and normal stool. Other features were unremarkable. Laboratory values on admission showed an hemoglobin of 13.3 g/dL, 36.4% hematocrit, with 19.00 × 103/uL white blood cells (WBC). C-reactive protein (CRP) value was 5 mg/dl (normal value < 0.5). A computed tomography (CT) scan (Fig. ) revealed no pathognomonic signs of appendicitis. Due to the diagnosis of acute abdomen, with provisional clinical diagnosis of acute appendicitis and secondary peritonitis, antibiotic treatment with amoxicillin-clavulanate 2 .2 g three times a day was initiated and she was taken to our operating room. During the operation, a small amount of free intra-abdominal fluid was found with uterus, ovaries, and fallopian tubes being macroscopically normal. Appendicitis was therefore suspected and appendectomy was performed. Ascitic fluid culture was sent to the Microbiology Laboratory in suitable means of transport. The sample was processed with the classic method by sowing on culture-enriched media, searching for aerobic and anaerobic bacteria []. Streptococcus pneumoniae was isolated after 24 hours of incubation in CO2. The organism was identified as S. pneumoniae 99.9% with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry (bioMérieux Clinical Diagnostics). An antibiotic susceptibility test was performed using E-test method and interpreted using European Committee on Antimicrobial Susceptibility Testing (EUCAST) guidelines 2017 []. The organism was susceptible to antibiotics tested with minimum inhibitory concentrations (MICs) of benzylpenicillin 0.01 μg/ml, ampicillin 0.02 μg/ml, linezolid 1 μg/ml, ceftriaxone 0.01 μg/ml, meropenem 0.50 μg/ml, levofloxacin 0.5 μg/ml, clindamycin 0.02 μg/ml, trimethoprim/sulfamethoxazole 0.5 μg/ml, and vancomycin 0.1 μg/ml while blood cultures were negative. Our patient’s postoperative course was unremarkable and the antibiotic therapy was stopped after 4 days. She was discharged on the fifth postoperative day asymptomatic with a good performance status. In order to understand the source of this rare form of peritonitis we performed an evaluation of serum oncological markers and immunological status (procalcitonin, interleukin 5, interleukin 10), which were all negative. We also tested markers for HIV and hepatitis C virus (HCV) that gave negative results. A chest CT scan was also performed without any evidence of an active source of infection. Furthermore, histological examination of her appendix did not show signs of appendicitis but revealed a form of peritonitis (Figs. and ). A 30-day follow-up was performed. At day 10 an evaluation of our patient’s immunological status was performed and the results were negative; at day 20 a chest CT was done and results were negative for any source of infection. |
pmc-6487001-1 | A 56-year-old male patient came to the emergency room due to a right-sided occipital headache and vertigo, which suddenly began three days before the visit, and a symptom of tilting to the right, which began one day before the visit. There was no history of an external injury within the past one week. The patient did not have any underlying diseases, history of migraines, or risk factors for stroke, except for smoking. He also did not have a history of taking antiplatelet agents. When the patient visited the emergency room, his blood pressure was 160/100 mmHg, the pulse rate was 62/min, breathing rate was 19/min, and body temperature was 36.5 °C. The results of a neurological examination showed lateropulsion to the right side, hypoesthesia on the right side of the face, ataxia in the right upper and lower limbs, and the NIH stroke scale was 2. The results of serological studies and electrocardiography were normal.
The diagnosis was determined to be an acute ischemic stroke because the diffusion weighted imaging (DWI) of MRI revealed a high signal intensity area in the right lateral medulla. CT angiography (CTA) was taken first at 3 days after the symptom occurred. HR vw-MRI was taken a day after (at the 4th-day). The right PICA was not observed in the first CTA, and partial spontaneous recanalization was observed on the time-of-flight MR angiography (TOF-MRA), which was taken one day after. Moreover, the sagittal 3D T1 weighted HR vw-MRI showed a T1 hyperintense intramural hematoma in the right proximal PICA (Fig. ). However, a T2 weighted 3D curved MPR image revealed the luminal dilation and intimal flap in the right proximal PICA (Fig. ). The patient was diagnosed with spontaneous isolated PICA dissection on the basis of the neurological symptoms and imaging. He was treated with antiplatelet agents and the neurological symptoms of the patient improved during course of admission. |
pmc-6487001-2 | A 38-year-old male patient came to the emergency room due to vertigo and vomiting that had started suddenly one day before the visit. The patient complained of a left-sided occipital headache that began two days before the visit. He had no history of trauma within 1 week prior to admission. The patient did not have any underlying diseases, history of migraines, or risk factors for stroke except for smoking and alcohol consumption. His blood pressure was 170/100 mmHg, the pulse rate was 70/min, breathing rate was 20/min, and body temperature was 36.5 °C. A neurological examination showed ataxia in the left upper extremity and the NIH stroke scale was 1. The results of serological studies and electrocardiography were normal.
The patient was determined to have an acute ischemic stroke because the DWI of MRI showed a high signal intensity area in the left PICA territory. CTA was taken at 2 days after the onset of a headache and at 1 day after the onset of neurological symptoms. Moreover, HR vw-MRI was taken at 6 days after the onset of a headache and at 5 days after the onset of neurological symptoms. Although the left PICA was not observed on the TOF-MRA, other vessels including the left vertebral artery were normal. An intraluminal high signal intensity and mild dilation of the left proximal PICA was revealed on routine 3D HR vw-MRI, but pathognomic signs of dissection was not seen. Curved MPR image reconstructed from 3D T2 weighted HR vw-MRI showed dilation and an intimal flap in the left PICA origin and post dilation stenosis in the left proximal PICA (D). (Fig. ). The patient was diagnosed with spontaneous isolated PICA dissection based on the neurological symptoms and imaging. The patient was treated with antiplatelet agents and discharged after his neurological symptoms improved. |
pmc-6487006-1 | Mr. A is a 21-year-old single man, who lives with his mother. He was admitted to our inpatient psychiatric unit in 2018, following a suicide attempt by hanging. His suicide attempt was the result of a fine-grained “logical analysis”, which he described to several professionals in a detached and didactic tone, detailing it step by step. He saw no point in “living his life until the end”, comparing it to a movie whose first scenes “did not thrill him”. He also gave a similarly meticulous, unemotional breakdown of his reasoning in the presence of his mother. His suicidal thoughts were not part of a depressive episode: no reduced activity, low energy or mood or anhedonia were reported. On the eve of the suicide attempt, the patient went to school, and performed his usual daily activities, including his hobbies (e.g., playing the piano). He saw his psychiatrist and his mental status was stable. His score on the Beck Depression Inventory (BDI) [] was in the normal range (3/63): he reported only a slight loss of appetite (1/3), along with suicidal thoughts (2/3). No trigger for his hanging attempt was identified. During the dinner before said attempt, he had a dispassionate philosophical discussion with his mother on the topic of suicide, in which he advocated his right to end his life. He reports that he had not yet decided to attempt suicide by then, but thought it was his responsibility to prepare his mother to the possibility. The attempt failed due to a mechanical problem with the rope and the hanging point. He then quietly went to bed and fell asleep. However, he forgot to switch off the bathroom light and to remove the rope, leading his mother to find out what had happened during the night.
Mr. A. reported that his suicidal thoughts started when he was 18, following an unrequited infatuation with a classmate – the result of a rational decision: he had decided to “fall in love” with her. His love remained unrequited and the girl had a short romantic relationship with a friend Mr. A. had introduced to her. While he did not mind the relationship per se, upon learning that it was short-lived, and thus just “for fun”, Mr. A. became upset. He started having “obsessive negative thoughts”, and attempted suicide by jumping from a window. He survived and was hospitalized for 8 months, first at an intensive care unit, then at a rehabilitation unit. His outpatient psychiatric follow-up began at that time. No psychotropic drugs were prescribed to him. However, his suicidal thoughts lingered, characterized by a restrictive, rigid pattern, which was not associated with a depressive mood.
When we met him, Mr. A. was a first-year engineering-student in the south of France. He liked school and said he had a few friends, but his relationships with his peers lacked spontaneity – i.e., he had to study their behavior in order to know “what to say”. When prompted, he told us he felt his emotions were “overwhelming”, and that he was unable to regulate them. There was a discrepancy between the content of his speech and his facial expressions, which were neutral. His communication skills were qualitatively rigid, as it was difficult for him to grasp the implicit meaning of a number of phrases. Many open-ended questions had to be rephrased, as he considered them “too vague”. His speech was monotone, but his vocabulary was rich, precise, and displayed no morphological abnormalities. He exhibited an adherence to non-functional routines; for example, he always took his shower in the exact same way, and studied on the same table since childhood. Mr. A. presented with motor stereotypies, such as rocking back and forth when he felt anxious or pensive. Sensory abnormalities were also reported concerning his hearing, temperature perception and nociception. For example, Mr. A. has never reacted to painful stimuli, and wears the same clothing irrespective of the weather. Restricted and all-consuming interests were also reported: as a child, Mr. A. showed periodical interest in topics such as Ancient Egypt and Middle-Age History, which became his sole topics of discussion. When we met him, his spontaneous communication was limited. Mr. A. explained that he disliked chatting, as he did not know what to say. His discussion topics were limited to his areas of interest (i.e., computer science), but he could also easily talk about his suicidal thoughts. His developmental history, as well the current clinical picture, were consistent with ASD diagnosis according to the DSM-5. ADI-R [] scores were also consistent with the diagnosis, as results were above the cut-off in the three ASD core domains of social interactions (score 10; cut-off ≥10), communication (score 9; cut-off ≥8) and behaviors (score 4; cut-off ≥3).
A comprehensive neuropsychological battery was administered. Mr. A.’s scores on the Wechsler Adult Intelligence Scale -Forth Edition (WAIS-IV) [] indicated that he had an above-average IQ (FSIQ = 115), with very high verbal abilities (VCI = 128), whereas his perceptive reasoning and working memory abilities were 1 standard deviation above average (POI = 114; WMI = 112, respectively). Processing speed (PSI = 89) and selective attention were the main weaknesses in his functioning (circa 1 SD below-average). Sustained and divided attention performance were average on the Test for Attentional Performance []. Set-shifting, verbal initiation and inhibition abilities were above average, as were verbal and spatial working memory abilities. Planning was efficient but required much time, as assessed by the Tower of London []; verbal and non-verbal long-term learning were also efficient. However, peculiarities were observed in the California Verbal Learning Test [], as he learned the word list in order of appearance, instead of clustering words in a semantic fashion. Furthermore, his learning curve was irregular, owing to attention and executive difficulties as well as to idiosyncratic learning strategies. His copying style of the Rey-Osterrieth Complex Fig. [] was detail-based: he drew a small part of its outline before including details into the frame. Performance on the Reading the Mind in the Eyes Test [], assessing facial emotion recognition, was particularly slow, hence not spontaneous. Mindreading skills were rigid in the faux-pas task [], with the same sentences repeatedly produced to describe others’ mental states. Overall, our results are suggestive of attentional and processing speed difficulties; planning skills and facial emotion recognition are efficient, but costly and lack spontaneity; information processing is concrete and detail-based; mentalization abilities are rigid. |
pmc-6487008-1 | A 35-year-old Caucasian man fell laterally on his right shoulder due to a hoverboard accident. On X-ray at our emergency room (ER), a displaced comminuted right middle third clavicle fracture, with clavicle shortening was diagnosed (Fig. a). He was otherwise healthy with no routine medications or allergies. He is right-handed; his occupation is car electrician and he wished to regain his hand function in order to get back to work as soon as possible. Considering his age, level of physical activity, fracture pattern, and his expectations, surgery was advised. The operation was performed 10 days later. A superior approach to his clavicle using right-sided Acumed Locking Clavicle Plate was applied. Intraoperative and postoperative imaging were performed (Fig. b, c). After the operation he was treated with analgesia, his shoulder was immobilized in a sling, and physical therapy was recommended with restricted range of motion of < 80° abduction. He was asked to return to a standard follow-up examination after 2 weeks, in which a standard X-ray demonstrated the fracture fixated by the locking plate (Fig. ). He reported feeling good and was released with the recommendation of continuing physical therapy while avoiding lifting heavy weights.
Five weeks later, he returned to our ER. He described picking up a grocery bag with two packs of sugar, 1 kg each, hearing a breaking sound and feeling his whole shoulder falling down. To our surprise, an X-ray demonstrated a breakage of the fixation clavicle plate with a displacement of the fracture (Fig. ). He was operated on again: the fracture and implant were exposed, the plate and screws were removed completely, and a new longer fixation plate was implanted (Fig. ). Furthermore, we used a cancellous bone graft to refill the fracture site. The broken plate was sent back to the factory for inspection.
Our patient gave his consent after he was informed that data concerning his case will be used for research purposes and publication. |
pmc-6487026-1 | In June 2017, a 15-year-old boy was admitted to the emergency department following blunt abdominal trauma after being hit by a car while he was observing a car race.
The patient was intubated and was haemodynamically stable (blood pressure 100/60 mmHg, pulse rate 88/min); therefore, laboratory tests and CT-scan were performed.
The computed tomographic scan of the thorax and abdomen showed bilateral pleural effusions with rib fractures and a large haemoperitoneum associated with a traumatic rupture of the spleen with multiple injuries (grade III of the Organ Injury Scale, of AAST []) and a 7-cm mass at the left side of the retroperitoneal space (Fig. ). A thoracic drain was inserted on the left side of the thorax, and non-operative management for the spleen started.
Haemoglobin decreased from 14.4 to 8.9 g/L during hospitalization with four hours of conservative treatment, with appearance of haemodynamic instability that was considered an indication for surgery.
An incision was made on the midline. The abdomen was packed and explored. The operation began with clearance of the haemoperitoneum. The spleen appeared with multiple longitudinal lesions in the visceral aspect. It was gently grasped and displaced medially towards the incision. The avascular peritoneal attachments and ligaments are incised with by electrocautery, followed by dissection of the splenogastric ligament and ligation of the short gastric vessels near the spleen to avoid injury or late necrosis of the gastric wall. The splenorenal, splenocolic and splenophrenic ligaments were divided. To avoid pancreatic injuries, dissection was carried out in close proximity to the hilum of the spleen, where the splenic artery and veins were identified, carefully dissected, doubly ligated and fixed with suture ligatures. After removal of the spleen, haemostasis was obtained and confirmed in a systematic fashion through careful inspection of the left subphrenic area, the greater curvature of the stomach and the short gastric vessel area, as well as the splenic hilum. Inspection of these areas showed an accessory spleen connected to the omentum by a vascular pedicle that was moved to the splenic fossa and fixed to the diaphragmatic peritoneum by prolene stitches to protect it from future traumatic injuries [] (Fig. ). A closed drainage was placed in the splenic fossa. Assuming that the 7-cm mass on the left side of the retroperitoneal space was an accessory spleen, given the vascular dynamics of the mass at the CT scan with contrast, it was decided to leave the retroperitoneal mass.
The postoperative course was uneventful, and the patient was discharged on the 7th postoperative day. He was followed up for 7 months, during which he was well with no complications. A CT scan performed a couple of months after the surgical procedure showed the viability of the small spleen close to diaphragm. Radiological examination revealed the mass in the retroperitoneal space confirming a second accessory spleen (Fig. ). |
pmc-6487039-1 | An 82-year-old male was admitted to the emergency department for worsening shortness of breath and hypoxia. He was admitted a week after he was diagnosed with a left ninth rib fracture secondary to a fall. He had long-standing history of chronic obstructive pulmonary disease, coronary artery disease, and peripheral vascular disease. Chest radiographs revealed a left pleural effusion and possible infiltrate. The patient was initially treated with a nebulizer, prednisone, and empiric antibiotic coverage with ceftriaxone and azithromycin. The patient failed to improve with the medical interventions and a therapeutic thoracentesis was performed. The thoracentesis was completed with ultrasound guidance, with the puncture made above the 11th rib at mid chest on the left. The pleural effusion was found to be frank blood. No immediate complications were noted, and the patient was taken to recovery. The next day the patient was found to be in respiratory distress. A chest x-ray revealed an opaque left hemithorax that was likely rapid accumulation of pleural fluid (Fig. ). A follow-up contrast-enhanced computed tomography (CT) of the chest performed during the arterial phase revealed a left intercostal pseudoaneurysm with hemothorax and adjacent compressive atelectasis (Fig. ). Ultrasound of the left chest wall was performed (Fig. ) directly over the thoracentesis site and doppler flow revealed bidirectional fluid flow, indicating the presence of a large pseudoaneurysm (Fig. ).
Following identification of the left intercostal pseudoaneurysm, the patient underwent a thoracic aortogram and multiple-level left intercostal angiogram (Fig. ) under IV conscious sedation. Selective catheterization of the T5, T6, and T7 intercostal arteries was unsuccessful in identifying the pseudoaneurysm. Selective catheterization of T10 and T11 intercostal arteries was performed with a C2 Cobra catheter, following multiple catheter exchanges due to the patient’s atherosclerotic vessels. The pseudoaneurysm was ultimately found to have a left T10 origin and the C2 Cobra catheter was exchanged for a microcatheter. Once access was gained, coil embolization of the pseudoaneurysm was performed with a series of 15 Axium micro coils. Significant room was left on both sides of the pseudoaneurysm and a follow-up angiogram was performed via the microcatheter, then a 5-French Cobra catheter. The follow-up angiogram demonstrated no further filling of the pseudoaneurysm (Fig. ). The catheter was removed and a Perclose device was placed in the left groin for hemostasis. Following completion of the procedure, the patient was taken to recovery. The patient proceeded to return to his baseline following medical management during the remainder of his hospital stay and was discharged home after 5 days. |
pmc-6487072-1 | A 34-year-old Caucasian man presented to the emergency department with a 15-day history of left neck edema, local pain, and fever. He was in good general condition, awake, lucid, oriented but discretely dyspneic. He had trismus (70%); a painful, warm, red, hard left neck bulging of 10 cm in length without signs of fluctuation; fever (temperature 38.8 °C); ventilator-dependent pain in the right hemithorax; respiratory rate of 23 breaths/min; pulse rate of 100 beats/min, and abdominal discomfort in the right hypochondrium. His blood pressure was within normal range at 110/70 mmHg. He had no alterations in cardiac auscultation and a reduced vesicular murmur at the right hemithorax. His abdomen was discretely distended, and he had considerable pain in the right hypochondrium. His Murphy’s sign was negative, he had no sign of peritonitis. He did not present with any neurological symptoms.
The patient and his wife and children lived in a small house with a monthly income of approximately 410 dollars. There was no record of a permanent job, but he formerly worked in construction as a bricklayer. He had no significant past medical history, but he reported daily smoking (20 cigarettes/day) for 20 years and alcohol consumption of 500 ml of distillate drinks on a daily basis for 10 years. He denied illicit drug consumption.
Seventeen days prior to presentation, he had undergone odontogenic surgical treatment in a dental clinic. He received oral amoxicillin 500 mg/8 h two days prior to the dental procedure, and after that, he received it for five more days with dipyrone (1 g/6 h) and nimesulide (100 mg/12 h). After the dental procedure, seven days before his admission to our unit, he went to another emergency room (ER) with the same symptoms, and there he received empirical intravenous antibiotic therapy (ciprofloxacin 400 mg/12 h) for seven days. Realizing that he was not improving, he left the first ER and presented to our hospital.
Upon his admission to our hospital, we started to manage the sepsis with an intravenous isotonic saline solution and empirical broad-spectrum antibiotics (1000 ml of 0.9% sodium chloride solution + ceftriaxone 1 g/12 h + clindamycin 600 mg/6 h). We planned antibiotic administration for 21 days, and it was given as intravenous dipyrone (1 g/6 h) for fever and tramadol (100 mg/8 h) for pain. Laboratory examinations did not show meaningful changes (Table ). The patient underwent serological screening to rule out possible causes of immunodeficiency (Table ), and blood cultures were collected. He underwent cervicothoracoabdominal computed tomography (CT) (Figs. and ). CT of the neck demonstrated soft-tissue infiltration and edema of the muscular tissue; left retromandibular, submandibular, parapharyngeal, and vascular space collections; and another left upper encapsulated fluid mediastinal collection. CT of the thorax and abdomen demonstrated bilateral pleural effusion, right subphrenic collection, and a small amount of liquid between intestinal loops.
Initially, based on these data, it was concluded that the patient had deep neck space infection (with involvement of the cervical fascia) from a dental focus, descending necrotizing mediastinitis, and subphrenic abscess; therefore, the patient underwent cervical, thoracic, and abdominal aggressive operative drainage. After bronchoscopic intubation without muscle blockers, the surgery was started by left cervicotomy, evidencing an abscess cavity in the submandibular and retromandibular spaces in addition to a small amount of thick liquid in left vascular and retropharyngeal spaces and upper mediastinum. The procedure consisted of extensive debridement and drainage of the cervical and mediastinal collection with tracheostomy to secure the airway (Fig. ). Drainage tubes were left in place, and samples were taken for culture and an antibiogram. Afterward, a right posterolateral thoracotomy was performed, evidencing serum pleural effusion and mediastinal and pericardial thickening. Mediastinal and pleural drainage was done via large-bore chest tubes. An abdominal approach through median supraumbilical laparotomy revealed a right subphrenic abscess. After drainage of 2000 ml of purulent secretion (Figs. and ), drainage tubes were also left in place, and samples were taken.
The following day, the patient had septic shock and needed vasoactive drugs. The antibiotic treatment was changed to intravenous piperacillin and tazobactam 4 g/6 h and vancomycin 1 g/12 h.
The bacteriologic results from materials obtained from the abdomen revealed only Candida albicans. Aerobic and anaerobic liquid cultures were collected with sterile syringes in the surgical field and were stored in dry tubes for aerobic pathogens and in appropriate liquid contents for anaerobes. We don't have information about how was made the transportation of the tubes. There was no growth in the neck, pleura, and mediastinum material. The blood culture was also negative. Gram staining did not detect any bacteria. These were probably due to the patient’s previous use of antibiotics. Fluconazole (400 mg/12 h) was added to the treatment.
After three days in the intensive care unit, the patient was hemodynamically stable with apparent improvement, and he was transferred to the head and neck ward. He had 21 days of antibiotic treatment (2 days of ceftriaxone 1 g/12 h + clindamycin 600mg/6 h, 19 days of piperacillin and tazobactam 4 g/ 6 h) and 15 days of antifungal treatment (fluconazole 400 mg/12 h), and then he was discharged from the hospital on the 22nd postoperative day, without drains or tracheostomy. His outpatient discharge occurred six months later, without any sequelae. At his last appointment, the scars had a good aspect, with no keloids or hypertrophy, and he had no complaints about swallowing, breathing, or vocal hoarseness. He was able to get back to his work with no restrictions. |
pmc-6487122-1 | A 38-year-old gravida 1 para 0010 Russian female presented with irregular menses every 2-3 months and a 15-year history of infertility. Prior to presenting to our institution, she was seen by a fertility specialist in Russia where a karyotype analysis was performed. A copy of the result was not available for review by our clinicians, but the patient believed that she was found to have a 46,XY karyotype. The patient was unaware of any other relevant lab results. The patient underwent menarche at the age of 15 and had irregular menses every 2-3 months since then. She had an early first trimester spontaneous abortion which was detected with a positive home urine pregnancy test without clinical ultrasound or pathological confirmation. She had a history of a laparoscopic appendectomy with a concurrent right salpingectomy. She did not have any other significant medical or family history. Specifically she had no family history of irregular menses, infertility, or premature ovarian failure.
On exam, she was 160 cm tall and weighed 55 kg with a BMI of 23. Her vital signs were normal and she had normal female secondary sex characteristics with Tanner stage V breast development, Tanner stage V pubic hair growth, a normal vagina and cervix, and no hirsutism or clitoromegaly. She was without short stature, scoliosis, high palate, hearing loss, short or webbed neck, shield chest, cubitus valgus, shortened fourth metacarpals or metatarsals, genu valgum or varum, or Madelung deformity of the forearm and wrist.
Laboratory studies showed premature ovarian insufficiency with a follicle stimulating hormone level of 104.9 mIU/mL, a luteinizing hormone level of 35.5 mIU/mL, an estradiol level of < 5 pg/mL, and a total testosterone level of <12 ng/dL. Liver function and thyroid function tests were within normal limits. A peripheral blood karyotype analysis of 5 cells at a 400-550 band resolution showed a normal 46,XY male karyotype (Chromosome Analysis Blood, Quest Diagnostics). Although this karyotype is consistent with complete gonadal dysgenesis (Swyer syndrome), the patient's clinical history of breast development and menses did not fit this diagnosis. A FISH analysis was performed on 50 cells for evaluation of SRY and the X centromere to evaluate for possible Swyer syndrome or low-level mosaicism. This showed 41 cells with 46,XY and 9 cells with 45,X (FISH SRY/X Centromere, Quest Diagnostics) which was clinically correlated to a diagnosis of mosaic Turner syndrome.
Sonographic examination revealed a small uterus measuring 4.4 × 2.3 × 1.2 cm, a right ovary measuring 1.4 × 1.2 × 0.9 cm with two simple cysts measuring 8 mm and 9 mm, a left ovary measuring 1.3 × 0.9 × 0.8 cm, and a 6 mm endometrial echo complex. A CT scan of the abdomen and pelvis showed normal kidneys. An echocardiogram was performed and showed no cardiac anatomical abnormalities. A dual-energy X-ray absorptiometry (DEXA) scan showed lumbar osteoporosis with a T-score of -3.5.
Due to the increased risk of gonadoblastoma, the patient was offered and accepted laparoscopic bilateral gonadectomy and left salpingectomy (her right fallopian tube was surgically absent) with pelvic washings. On pathologic review, the bilateral gonads were found to possess hypoplastic ovarian tissue () with two small right ovarian serous cysts () and no evidence of malignancy. For her osteoporosis, she was prescribed calcium and vitamin D supplementation and she preferred to be on cyclic combined oral contraceptives rather than standard hormone replacement therapy. She was counseled that pregnancy is an option for her through in vitro fertilization with donor eggs and she intends to pursue this when ready for family building. She was counseled that bisphosphonates are not recommended in women considering future pregnancy and referred to medical endocrinology for treatment of osteoporosis with other non-bisphosphonate medications. |
pmc-6487124-1 | A 14-year-old boy was referred to our Paediatric Endocrinology Center due to short stature. He was the first son of two children, with a healthy sister and irrelevant familial history. Familial target height was on percentile 3–10. Uneventful pregnancy, delivery, and neonatal period were seen. At the age of 5, he was submitted to correction of aortic coarctation and had arterial hypertension diagnosis, beginning treatment with enalapril (follow-up at Cardiology). He had an adequate psychomotor development. Height growth was on percentile 10–25 until he was 11, with growth deceleration since then. On first appointment with pediatric endocrinology, the patient's height and growth velocity were below percentile 3. His weight evolution was on percentile 25–50 until the age of 7, with exponential rise afterwards until percentile 97 (body mass index of 31 kg/m2).
At observation, besides height and weight disproportion already mentioned (weight 62 kg and height 141.2 cm), the patient presented round and red face, large and short neck, cervical acanthosis nigricans, well-muscled body, and melanocytic nevus on the back and limbs. Pubertal development: axillary hair present; pubic hair at Tanner stage 2; penis covered by prepubic fat (length 5.5 cm) but normal consistency; and testis in the scrotum, with a bilateral testicular volume of 4 ml3.
Laboratorial and imagiologic evaluation:Blood count, albumin, renal and hepatic function, ionogram, and phosphocalcic metabolism were normal Lipidic and glucidic profile: total cholesterol 219 mg/dL (reference range: <200 mg/dL), HDL 55 mg/dL (r.r.: >60 mg/dL), LDL 141 mg/dL (r.r.: <130 mg/dL); triglycerides 115 mg/dL (r.r.: <150 mg/dL); HbA1c 5.8%; glucose/insulin ratio 3.7 (low, suggestive of insulin resistance) Celiac disease: negative anti-gliadin and anti-transglutaminase antibody measurements Thyroid function was normal Adrenal function evaluation: normal basal 17-hydroxyprogesterone and dehydroepiandrosterone-sulfate for Tanner stage 2. Normal basal and stimulated values for 17-hydroxyprogesterone, 11-deoxycortisol, and delta-4-androstenedione in ACTH stimulation test IGF-1 and IGFBP3 were normal Left hand and wrist X-ray: 15-year-old bone age, for a chronologic age of 14 years and 4 months Renal ultrasound: no anomalies
Considering growth deceleration, arterial hypertension, round and red face, acanthosis nigricans, and hypercholesterolemia, the first hypothesis was hypercortisolism. However, 24 h urinary cortisol was normal (230 μg/24 h, to r.r.: 55.5–286 μg/24 h) as well as overnight 1 mg-dexamethasone suppression test (0.6 mg/dL, to r.r.:<1.8 mg/dL).
Because there was growth deceleration and nonevolving puberty, as well as an advance in the bone age, pituitary-gonadal axis was evaluated: normal prolactin measurement, undetectable gonadotrophins (LH and FSH), and total testosterone determinations, which could be compatible with a prepubertal stage or hypogonadotropic hypogonadism. Cranial magnetic resonance imaging showed no anomalies. In order to differentiate hypothalamic or pituitary origin for this hypogonadism, the next step should have been the LH-RH test. However, this was not performed as the patient started exogenous testosterone after seeking a second medical opinion.
The patient was then referred for medical genetic evaluation, and a molecular analysis was requested. ArrayCGH (Comparative genomic hybridization, PerkinElmer® CGX-HD 180K, Genoglyphix v3.1) identified a mosaicism involving chromosome Y (). This rearrangement was further characterized by karyotype and FISH (fluorescence in situ hybridization) with probes for the SRY and for the X (DXZ1) and Y (DYZ3) centromeric regions (Cytocell©) in the blood and buccal mucosa (Figures and ). This procedure confirmed the existence of two cell lines:a major line with a single hybridization signal for the chromosome X centromeric region, i.e., with 45 chromosomes and no Y chromosome, present in 72% and 51% of the lymphocytes and oral epithelial cells, respectively. a minor line with a hybridization signal for chromosome X centromeric region and a double hybridization signal for Y centromeric region compatible with a dicentric chromosome, present in 28% and 49% of the cells of peripheral blood and the oral mucosa, respectively. To further characterize this rearrangement, an SRY probe was used and a double hybridization signal for the Yp11.3 region was detected, at interphase. At metaphase, this minority line shows only a condensed hybridization signal for the SRY locus on the isodicentric chromosome, confirming the absence of only a small part of the short-arm terminal region distal to Yp11.32. In other words, this line is formed by 46 chromosomes with a structurally modified Y constituted by two long arms and part of the small arm, with loss of short arm terminal region at Yp11.3-idic(Y)(p11.3).
Together with the arrayCGH findings, the patient karyotype wasmos 46,X,idic(Y)(p11.3)[12]/45,X[10].ish idic(Y)(SRY+).nuc ish (DXZ1x1)[300/415]/(DXZ1x1,SRYx2)[115/415].arr[GRCh37] Xp22.33/Yp11.32(296520_1211406)x0∼1,Yp11.32q12(246520_59049419)x0∼1
Considering this mosaicism, a testicular ultrasound (US) was performed with no anomalies detected.
Nowadays, the patient is kept under surveillance in Pediatric Endocrinology, under therapeutics with 200 mg testosterone enanthate (intramuscular) monthly. A secondary sexual characteristics progression was observed: development of axillary and pubic hair and testicular volume growth to 8 ml3. On last appointment, the patient was 68.7 kg and 144.5 cm tall. There has been nutritional and regular physical activity counselling as well as natural vegetable steroid ingestion encouragement in order to control obesity and dyslipidemia.
In the future, it is crucial to maintain follow-up and early detection of potential gonadic alterations, with regular testicular US (there is no consensus on periodicity, but the majority recommends annual evaluation; when in doubt a testicular biopsy should be performed), and preconception genetic counselling. |
pmc-6487125-1 | A 53-year-old male presented to our centre with a one-month history of worsening right mandibular swelling, pain, and progressive trismus. He had been diagnosed with an odontogenic infection by emergency physicians and was treated in the emergency room with 2 g of intravenous (IV) cefazolin daily over four days without relief before being ultimately referred to our care.
The patient's past medical history was remarkable for a benign Rathke's cleft cyst involving the pituitary gland, which was previously resected. His medications included hydrocortisone, levothyroxine, and testosterone as hormone replacement, as well as codeine on an as-needed basis for migraines. He was otherwise healthy, with no allergies. He reported a 20-pack year smoking history, as well as occasional, but infrequent, alcohol and marijuana use.
On presentation, he was in no distress and was afebrile with stable vital signs. Clinical examination revealed mild, firm, and nonfluctuant swelling of his right posterior mandible with no overlying skin changes. Palpation elicited diffuse tenderness along the right submandibular region but no palpable cervical lymphadenopathy was appreciated. Cranial nerve exam revealed paresthesia and loss of sensation along his right lower lip. No other cranial nerve deficits were noted. There was marked trismus with a maximum incisal opening of 16 mm. Intraoral examination revealed a healthy dentition with no obvious decay. There was some minor erythema of the mucosa distal to the right mandibular second molar, which was tender to palpation. Otherwise, there were no obvious mucosal changes. Flexible nasopharyngoscopy showed no abnormalities in the pharynx. The remainder of neurological, cardiovascular, abdominal, and musculoskeletal exams was unremarkable. Imaging of the patient's facial bones via orthopantomogram and computed tomography (CT) was also obtained (Figures and ).
A vertically impacted right mandibular third molar was present in the posterior right mandible, with an associated ill-defined radiolucency (). This had a “moth-eaten” appearance, which extended posteriorly to involve the mandibular ramus. The lesion obscured the continuity of the mandibular canal. There was no pathological fracture. The lamina dura of the posterior dentition was poorly defined with no root resorption of the posterior dentition, although the right mandibular second molar appeared to be tipped slightly distally. No bony expansion or periosteal reaction of the inferior border could be detected. Caries was also incidentally noted on the distal of the right mandibular second molar.
CT imaging revealed destruction of the right posterior mandible by the radiolucent lesion described above, which measured 12 × 7.3 mm in dimension (). The right mandibular third molar remains deeply impacted in the mandibular angle/ramus region. The osteolytic lesion had eroded through the lingual cortical plate and also involved the buccal cortex as well. The inferior alveolar nerve canal could still be visualized but was in very close proximity to the lingual aspect of the right mandibular third molar. There was evidence of surrounding soft tissue reaction and inflammatory changes. There were several subcentimeter, nonnecrotic right perifacial and jugulodigastric nodes (levels IB, IIA). The presence of a focal abscess could not be ruled out on CT imaging alone.
Given the patient's clinical and radiographic presentation, our working diagnosis was an odontogenic infection secondary to impacted right mandibular third molar. Therefore, the decision was made to treat the presenting condition as an odontogenic infection by performing an incision and drainage under general anesthetic. In light of the progression of the patient's symptoms over the previous four days despite cefazolin therapy, it was felt that antibiotics alone would not be sufficient treatment.
Following the administration of a general anesthetic, a distal-releasing incision of the mucosa overlying the right mandibular second molar was made, followed by elevation of a full thickness mucoperiosteal flap. No mucosal ulcerations were detected along the right posterior mandible. The impacted right mandibular third molar was removed without complications. This was successful only after the removal of abundant surrounding soft tissue which had a gelatinous texture. We also noted very minimal soft or bony tissue hemorrhage intraoperatively. The mesial and inferior mandibular walls of the third molar socket were deemed to be intact. The lingual wall was thin and barely intact, and the distal wall was poorly visualized owing to the large concavity of the socket. Approximately 1.5 cm of aggregate soft tissue along with the extracted right mandibular third molar was submitted for histopathological and microbiological analysis. Although it was near the surgical bed, the inferior alveolar nerve was identified and preserved.
Histopathological analysis showed multiple fragments of soft tissue that were nearly completely replaced by moderately differentiated invasive keratinizing squamous cell carcinoma (Figures and Supplemental ). A molar tooth was also submitted which was not examined microscopically. The patient was informed of the diagnosis on follow-up, and CT imaging of the thorax showed no evidence of metastatic disease in the thoracic cavity. Therefore, staging of the tumor was determined to be T4A N0 M0. The hospital's head and neck tumor board recommended that he undergo oromandibular resection, selective neck dissection, and fibular free flap reconstruction for his SCC, two weeks from the time of diagnosis. He was also planned for adjuvant radiation therapy.
After consent was obtained, the patient was brought to the operating theatre for a tracheostomy, oromandibular resection, selective neck dissection, and right fibula free flap reconstruction. Following induction, he underwent a successful orotracheal intubation, which was followed by tracheostomy in standard fashion. We planned a half apron incision, with a vertical midline limb to facilitate a lip split; care was taken to avoid communication with the tracheostomy incision. Following the incision and subplatysmal flaps, level IA/B neck dissection was commenced. Nodes in this compartment were adherent to the inferior border of the mandible, involving the marginal branch of the facial nerve, which was sacrificed. The right mandibular canine was extracted, defining the anterior limit of the mandibulectomy, performed using a reciprocating saw. The tumor was infiltrating the parotid gland laterally. The lingual nerve was involved inferomedially, necessitating sacrifice of the lingual nerve. Soft tissue along the floor of the mouth extending to the retromolar trigone and palatoglossus was included in the resection. The posterior mandibulectomy was completed 1 cm away from the tumor. The specimen was removed en bloc, followed by a selective neck dissection of levels II-III. Frozen sections obtained were all negative. The defect was reconstructed with a right fibula free flap, with a 6 × 8 cm laterally-based skin paddle (). Vascular anastomoses were secured to the right facial artery and left external jugular vein, and an implantable arterial Doppler was placed. The flap donor site was closed with a split thickness skin graft. The patient was allowed to slowly awaken from the anesthetic. He was fed on the 7th postoperative day, and the Doppler was removed on the 9th postoperative day. His hospital stay was uncomplicated and his flap was healthy on discharge.
The main resection specimen was a right oromandibular resection with level IA/B neck dissection and partial parotidectomy. There was a 1.5 cm eroded mucosal defect in the retromolar area that corresponded to the site of the biopsy. A 3 cm mass extended from this defect into the underlying bone. The tumor was predominantly intraosseous but also involved the surrounding soft tissue. Microscopy confirmed an invasive squamous cell carcinoma that extended from the eroded defect into the bone (Figures and Supplemental ). Focal mild dysplasia was noted in the retromolar mucosa, suggesting an origin from this area rather than an intraosseous origin. The bone, soft tissue, and mucosal margins were all free of malignancy, as were 23 levels I-III lymph nodes. Microbiology results from culture and sensitivity testing showed no growth of any microorganisms after 48 hours of incubation. |
pmc-6487135-1 | A 21-year-old woman was consulted in February 2015 for bleeding gingival enlargement evolving for 12 months. She complained of esthetics, discomfort, and difficulties of plaque control. According to medical history, the patient had received a kidney transplantation 2 years earlier (2013). She has been administrating a daily immune suppressor treatment based on cyclosporin A 125 mg, prednisolone 5 mg, and mycophenolate mofetil 500 mg per day as a prophylaxis against organ transplant rejection.
The patient had a very poor oral plaque control; the plaque index PI [] and gingival index GI scores [] were high which were, respectively, 2 and 2.75.
The clinical examination revealed an erythematous, edematous gingival overgrowth localized at the buccal and lingual side of the anterior teeth. The gingival overgrowth appeared as localized nodular enlargement of the interdental papilla (Figures –).
The amount of the gingival overgrowth was obtained according to the GO score of Seymour et al. [].
A GO score was assigned to each buccal and lingual interdental papilla (gingival unit) of the six anterior upper and lower teeth. Then the sum of the horizontal and the vertical enlargement components was made.
The first component measured the degree of gingival thickening (horizontal enlargement) labially and lingually by means of a three-point scale (0 = normal width, 1 = thickening up to 2 mm, and 2 = thickening of more than 2 mm). The second component measured the extent of encroachment (vertical enlargement) of the gingival tissues on the labial and lingual aspects of adjacent tooth crown; it ranged from 0 to 3 (from no clinical evidence of overgrowth to an overgrowth covering three-fourths of the tooth crown). Likewise, a total of 20 papillae are examined, presenting a potential maximum GO score of 100, which could be expressed as a percentage [].
The gingival overgrowth is considered as clinically significant if the GO score is ≥30% [].
In the present case report, the GO score was 30.5%, so that it was classified as clinically significant gingival overgrowth.
A suitable probing revealed deep pockets with negative recessions, due to the gingival overgrowth (indicating coverage of clinical crowns ≥ 2 mm). Underlying calculus was localized mainly at the anterior teeth. The pocket values and clinical attachment loss varied from 5 to 7 mm and from 2 to 3 mm, respectively.
X-ray examination showed a marginal (coronal third) horizontal alveolar bone loss which was more pronounced at the lower incisors (). So the patient had a periodontitis beside the gingival enlargement.
The final diagnosis was CsA-induced gingival overgrowth with underlying localized moderate periodontitis stage II grade B. The periodontitis was classified according to the new classification system of periodontal diseases and conditions from the American Academy of Periodontology and the European Federation of Periodontology 2018 [] (Tables and ).
The management strategy consisted of a nonsurgical periodontal therapy based, initially, on oral hygiene instruction. On the second-time round, a full-mouth scaling and root planning were performed a week later as well as polishing of all the rough dental surfaces. Extraction of the remaining root of tooth #26 was done at the same appointment.
The treatment was conducted under appropriate antibiotic prophylaxis based on amoxicillin plus clavulanic acid 1 g (intraoral) 2 times per day for 8 days as suggested by the patient's nephrologist. The antibiotic prophylaxis was performed in order to cover the infectious risk related to the systemic health status.
Two months after the periodontal treatment (hygienic phase), the clinical evaluation showed a successful regression of the inflammation and improvement of periodontal parameters. We have noted a reduction of pockets' depth and plaque and gingival index scores which become, respectively, PI: 0.5 and GI: 0.8.
Thus, a supportive therapy was established including the reinforcement of oral hygiene instruction and full-mouth scaling every 2 months. The whole treatment resulted in the total disappearance of gingival overgrowth without any surgical procedure. The last clinical and X-ray evaluation after 2 years of regular follow-up shows the good stability of the results (Figures –). |
pmc-6487140-1 | We present a case of a 60-year-old female who presented to the hospital with complaints of dull substernal chest pain. She had chronic atrial fibrillation, chronic obstructive pulmonary disease with home oxygen, osteoarthritis, and anxiety disorder as her comorbid conditions. On examination, she did have chronic dyspnea and was on home oxygen. She did not have any cyanosis, palpitations, paroxysmal nocturnal dyspnea, or orthopnea.
She was initially evaluated with a nuclear stress test that did not show any reversible ischemia but dilation of the right ventricle (RV); ejection fraction was identified to be 54%. The patient was further evaluated by a transthoracic echocardiogram (TTE) in order to evaluate the RV dilatation. TTE identified a complete absence of IAS and a CA (). The findings were confirmed with a positive bubble study (). Transesophageal echocardiogram (TEE) was performed that confirmed the absence of IAS, demonstrated free mixing of color flow, moderate to severe tricuspid regurgitation, normal mitral valve structure, normal left ventricular ejection fraction, and enlarged right atrium (RA) and RV.
The patient was evaluated with cardiac computed tomography angiogram (CCTA) that demonstrated the right coronary artery to be the dominant artery, all coronary arteries to be ectatic/aneurysmal and measuring up to 8-10 mm, a complete absence of IAS, marked dilation of CA and both ventricles, a coronary arteriovenous fistula (CAF) between the distal left anterior descending and coronary sinus, massive dilation of pulmonary arteries, and no mitral or aortic valvular abnormalities; left ventricular ejection fraction was measured to be 59% (Figures –).
The patient underwent an invasive angiography (IA) which demonstrated many abnormal findings. It showed that the patient had coronary artery aneurysms measuring 0.7 cm to 1 cm (). IA was instrumental in taking measurements regarding oxygen saturation and pressure at multiple levels identifying a large interatrial shunt with a 10% increase in oxygen saturation from IVC to RA. IA measured RV pressure to be 98/5 mmHg denoting severe pulmonary hypertension, RV end-diastolic pressure at 12 mmHg, mean RA pressure as 10 mmHg, and left ventricular (LV) end-diastolic pressure as 6 mmHg; oxygen saturation in the inferior vena cava (IVC) was 68.3%; oxygen saturation in RA was 79.8%; oxygen saturation in RV was 79.1%, and oxygen saturation in the femoral artery was 88%.
The patient had survived into adulthood with these congenital abnormalities. The patient did not have any muscular, skeletal, ophthalmologic, or vascular abnormalities to signify that her abnormalities were part of any congenital syndrome. Cardiothoracic surgery had been consulted; however, due to the technical implications of surgery, the patient was managed conservatively with no intervention to correct the congenital abnormalities. The patient was not considered for a transcatheter approach of fixing the atrial septal defect as there was a complete absence of the septum. The decision to approach conservatively also included factors such as the age of the patient, comorbid conditions, and the ability of the patient to tolerate this defect (without Eisenmenger syndrome). |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.