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1,300 | 6051554-1 | 30,034,966 | comm/PMC006xxxxxx/PMC6051554.xml | Adult Cystic Lymphangioma of the Parotid Gland: An Unwonted Presentation | A 50-year-old post-menopausal female presented to the outpatient surgical department with complaints of a slowly growing swelling and a dull aching pain over the right parotid region for the past two years. She had no past history of trauma, surgery or infection of the right parotid. On examination, there was a non-tender, cystic swelling of 5×5 cm in the right parotid region causing lifting of the earlobe. The swelling became more prominent on clinching the teeth. The swelling was not fixed to the skin or any underlying structures. Examination of the oropharyngeal and facial nerves showed no abnormalities. There was no cervical lymphadenopathy.\nRoutine blood tests were within normal limits. Ultrasonography (USG) of the parotid gland revealed a cystic lesion measuring 5×6 cm involving the superficial lobe of the right parotid gland. Fine needle aspiration cytology (FNAC) performed on the lesion was inconclusive.\nThe patient was posted for surgery. Intra-operatively, it was discovered that she had a multiloculated cyst arising from the superficial lobe of the right parotid (Figure ).\nThe cyst was excised in toto. The patient recovered well post-operatively. The histopathological examination found the cyst wall had a flattened outlining. The cyst wall had fibrocollagenous and proteinaceous material along with scattered lymphocytes and macrophages (Figures -).\nThere was serous salivary gland tissue along with some adjacent cyst wall suggestive of lymphangioma of the parotid gland (Figure ).\nThe patient was kept under medical surveillance for six months to watch for any local recurrence, but none occurred. | [[50.0, 'year']] | F | {'22190807': 1, '11169893': 1, '12524603': 1, '22442559': 2, '15452823': 1, '11801972': 1, '34251596': 1, '30034966': 2} | {'3304185-1': 1} |
1,301 | 6051555-1 | 30,034,972 | comm/PMC006xxxxxx/PMC6051555.xml | A Benign Rare Lesion of the Breast: Giant Epidermal Inclusion Cyst | A 37-year-old multiparous female patient presented to our outpatient clinic with complaints of right breast swelling and stiffness. A physical examination of the patient revealed a well-defined firm mass in the upper outer quadrant of the right breast, approximately 10 x 5 cm in size, extending beneath the areola. An axillary examination of the patient revealed no lymphadenopathy. Breast ultrasonography showed a lobulated, contoured, well-defined, large, hypoechoic multiple solid lesions of heterogeneous pattern in contact with each other in the right breast parenchyma; the largest had a diameter of 7-8 cm and a breast Doppler examination showed no marked vascularization on the mass (Figure ).\nA unilateral mammography was requested. Right breast mammography revealed smooth, contoured, multiple nodular opacities close to the skin without any ductal structure extending to the skin, the largest with a diameter of 6-7 cm (Figure ) and a bilateral breast magnetic resonance imaging (MRI) was requested.\nThe breast MRI revealed several, smooth, contoured lesions close to each other, almost completely filling the right breast with equivocal signal feature changes like breast structures, which might partly be consistent with debris and with a complicated appearance; the largest had a size of 7.7 x 4.1 cm. After an intravenous (IV) contrast injection, peripheral contrast enhancement in the cyst wall was observed without marked mural nodular or solid field enhancement at the cyst level. (Figures -).\nA Tru-cut biopsy was performed on the mass. In the pathological examination, benign breast tissue was observed, including tissue fragments lined with keratinized squamous epithelium, keratin materials, and two ductal structures as a separate fragment. Available histomorphological findings were considered consistent with epidermal inclusion cysts. Then, total tumor excision with negative surgical margins and an intraglandular flap reconstruction was performed on May 17, 2017. A post-operative pathological examination yielded epidermal cysts. In the pathological examination, macroscopically, there was a 10-cm-diameter mass with well-defined borders and multiple lobulations (Figure ); microscopic evaluation reported an epidermal cyst (Figures -). | [[37.0, 'year']] | F | {'17256408': 1, '26870262': 1, '17986812': 1, '12869930': 1, '15728019': 1, '14994255': 1, '17856704': 1, '33730901': 2, '31015391': 1, '16145584': 1, '9447386': 1, '30034972': 2} | {'8166397-1': 1} |
1,302 | 6051557-1 | 30,034,971 | comm/PMC006xxxxxx/PMC6051557.xml | Limitations of Coronary Computed Tomography Angiography in Predicting Acute Coronary Syndrome in a Low to Intermediate-risk Patient with Chest Pain | A 46-year-old female with a past medical history of essential hypertension and dyslipidemia, treated with amlodipine, hydrochlorothiazide, labetalol, and atorvastatin, presented to the emergency department (ED) with chest pain. Family history was non-significant for CAD or diabetes, and social history was remarkable for active tobacco smoking. The patient had been having intermittent substernal chest pain for two weeks. On the day of the presentation, she described an episode of acute onset, sub-sternal chest pain lasting for approximately 20 minutes while at her desk job. The pain had subsided gradually over the next 20-30 minutes, was not associated with any dyspnea, diaphoresis, nausea, vomiting, upper extremity or neck discomfort, or a headache. The patient drove herself to the hospital and while in the waiting room, she had a return of chest pressure that was similar to the earlier episode. Her chest pain improved greatly with nitroglycerin. An electrocardiogram (ECG) showed a normal sinus rhythm with left ventricular hypertrophy, with no significant ST or T wave changes (Figure ). Cardiac biomarkers showed normal creatine kinase-muscle/brain (CK-MB) with mild troponin elevation (0.14 ng/ml), which subsequently normalized. Other labs were normal. Transthoracic echocardiography demonstrated a normal left ventricular size and function, with a normal ejection fraction (55%-65%) and wall motion. Nuclear exercise stress testing did not demonstrate ischemia (Figure ). Because of high clinical suspicion, a CCTA was performed even though the stress test was negative; it did not reveal occlusive CAD, showing only a mild stenosis of the proximal left anterior descending (LAD) artery (Figure ). She was discharged on aspirin and pantoprazole for suspected gastroesophageal reflux disease. After two weeks, the patient returned to the ED complaining of a similar chest pain, occurring at rest, with radiation to the neck, and partial response to nitroglycerin. The ECG demonstrated ST elevation in leads V1-V2 and aVR, with ST depression in the lateral leads (Figure ). The patient was emergently taken to the cardiac catheterization lab and was found to have a significant proximal LAD lesion, requiring a percutaneous coronary intervention (PCI) with the placement of a drug-eluting stent (Figure ). Post PCI, the chest pain and ECG changes resolved. Troponin levels peaked at 3.1 ng/ml. The patient had an uneventful course in the hospital. She was discharged after two days on dual antiplatelet treatment, high-dose statin, and a beta blocker, with a close cardiac follow-up recommendation. | [[46.0, 'year']] | F | {'17207724': 1, '29744011': 1, '18691486': 1, '27717539': 1, '31357630': 1, '29655953': 1, '25047587': 1, '29744012': 1, '28785696': 1, '22172438': 1, '33919942': 1, '22980117': 1, '27522574': 1, '20884832': 1, '29273636': 1, '23940450': 1, '18929245': 1, '20349139': 1, '19007693': 1, '18286291': 1, '30034971': 2} | {} |
1,303 | 6051559-1 | 30,034,970 | comm/PMC006xxxxxx/PMC6051559.xml | Pseudotumor Cerebri Following Nexplanon® Implantation | A 27-year-old woman was referred by her ophthalmologist to our gynecologic office for evaluation after papilledema was found on her ocular examination. Upon further questioning, she complained of a subacute onset of intractable headaches, worse in the morning and aggravated by leaning forward, vision loss in her right visual field, nausea, vomiting, and balance problems. She stated that these problems began in January. The patient had a Nexplanon device implanted in November. She denied any other changes in her medical history or medication since that time, except for an unsuccessful trial of over-the-counter non-steroidal anti-inflammatory drugs in an attempt to relieve her headaches. She had minimal weight gain (3 pounds, 2 ounces) during this period. Neurologic exam was non-focal. She demonstrated a marked right visual field defect on confrontation testing.\nHer Nexplanon was removed in the office and she was sent to the Emergency Department for imaging and a lumbar puncture. Computerized tomography (CT) and magnetic resonance imaging (MRI) of the head were both normal. A section from the MRI imaging is shown in Figure . Lumbar puncture was performed and the opening pressure was 46 centimeters (cm) of water. The cerebrospinal fluid analysis was normal, and the results are noted in Table . Fourteen milliliters were drained during the puncture to a closing pressure of 16 cm water. The patient noted that immediately following lumbar puncture her headache improved. Within eight hours, her visual field deficit had resolved and her headache was reduced from an 8/10 intensity to a 2/10 intensity. Per modified Dandy criteria, which are outlined in Table , the patient was diagnosed with pseudotumor cerebri and discharged after the lumbar puncture on acetazolamide with instructions to follow-up for outpatient management. Arrangements were made to place a Paragard® intrauterine copper device (CooperSurgical, Inc., Trumbull, CT) as an alternative form of contraception. | [[27.0, 'year']] | F | {'26240745': 1, '27886895': 1, '27928370': 1, '25420176': 1, '25002568': 1, '28861212': 1, '7760885': 1, '26834960': 1, '30034970': 2} | {} |
1,304 | 6051562-1 | 30,034,968 | comm/PMC006xxxxxx/PMC6051562.xml | An Unusual Case of Chronic Kidney Disease with Mediastinal Lymphadenopathy | A 37-year-old male with a past medical history of hypothyroidism and recent contact with a meningitis patient was transferred to our tertiary care center after presenting to a previous hospital for a one-day history of altered mental status, headache, and presumed lymphocytic predominant meningitis. At the previous institution, the patient was given 2 gm of ceftriaxone, as well as an opioid medication for his headache. A lumbar puncture performed there showed a negative gram stain, an elevated white blood cell count of 19 x 10/µL with 89% lymphocytes, an elevated protein of 54 mg/dl, and an equivocal glucose of 65 mg/dl. Cultures from this initial spinal fluid sample were pending at the time of presentation with ensuing results showing no growth at three and four days. On general physical examination, he had generalized weakness, the vitals were stable, and the systemic examination was completely normal without any neck rigidity or pain, skin rash, palpable lymph nodes, or hepatosplenomegaly.\nSerum laboratory studies showed a normocytic anemia with hemoglobin of 8.4 g/dL (normal range: 13.5 - 17 g/dL) and a normal white blood cell count with differential. His initial serum basic metabolic panel (BMP), however, was concerning for azotemia with a blood urea nitrogen (BUN) of 98 mg/dl (normal range: 8 - 24 mg/dL) and a creatinine of 11.90 mg/dl (normal range: 0.6 - 1.3 mg/dL) without a known baseline creatinine. The patient’s estimated glomerular filtration rate (GFR) at that time was decreased to 6 mL/min/1.73m2. The initial serum metabolic panel additionally showed a metabolic acidosis with an elevated anion gap of 19 mEq/L and a bicarbonate of 18 mmol/L with a repeat BMP later that day showing similar values. Urinalysis on the day of admission showed an elevated protein of 30 mg/dl with a small amount of blood, and random urine protein was elevated at 107 mg/dl. Random urine creatinine was 42 mg/dl, with a urine protein to creatinine ratio of approximately 2.5 gm/gm of creatinine. The patient’s remaining labs, including serum lactic acid, serum uric acid, phosphorus, and magnesium, were unremarkable. Human immunodeficiency virus (HIV) testing was negative.\nConsidering his progressively worsening renal function, a renal ultrasound and nephrology consult were obtained. The ultrasound showed a 1 cm non-obstructive renal calculus in the inferior pole of the left kidney with no evidence of hydronephrosis and a normal-appearing right kidney.\nInvestigation of the patient’s altered mental status and suspected lymphocytic predominant meningitis consisted of immediate blood cultures, as well as a computed tomography (CT) of the head and chest x-ray completed on the day of his admission. The head CT was unremarkable, while the chest x-ray showed an ill-defined opacity overlying the mediastinum with a differential including tumor, vascular aneurysm, foreign body, or lymphadenopathy (Figure ). Further investigation with a chest CT showed diffuse mediastinal, bilateral hilar, and right supraclavicular lymphadenopathy concerning for lymphoma with partial compression of the hilar bronchi secondary to hilar lymphadenopathy (Figure ). Although central nervous system (CNS) lymphoma was considered higher on the differential than meningitis, the patient was empirically started on ceftriaxone, vancomycin, and acyclovir until culture results were available. Cerebrospinal fluid obtained by a lumbar puncture at the previous hospital was sent to our institution and tested through BioFire PCR (BioFire Diagnostics, Salt Lake City, UT) against a meningitis/encephalitis panel of 14 pathogens, all of which returned as negative. The patient’s blood cultures remained negative for growth after five days. Over the next several days, the patient’s cerebrospinal fluid analysis, flow cytometry, and viral panel were negative. However, his kidney function and overall status continued to deteriorate.\nTwo days after admission, the patient had a right supraclavicular lymph node core biopsy and had a repeat lumbar puncture with spinal fluid analysis on the third day, both at the recommendation of the hematology-oncology consultant, to assess for possible CNS lymphoma. The repeat spinal fluid analysis was unremarkable but the lymph node biopsy showed scattered loose aggregates of histiocytes (loose granulomas) without necrosis. Per the pathology report, the loose aggregates of histiocytes did not demonstrate the tight, organized granuloma formations most commonly found in sarcoidosis; however, it was noted that the granuloma architecture could not reliably distinguish among the causes of non-caseating granulomas. Special stains did not reveal acid-fast or fungal organisms. There was no evidence of lymphoproliferative disease, and this pathology report was later found to be consistent with a previous lymph node biopsy in 2011 which was done for asymptomatic lymphadenopathy and had shown non-necrotic granulomatous tissue. The diagnosis of CNS lymphoma was effectively excluded with these findings; however, no reliable diagnosis for this granulomatous change could be made.\nDuring this period, the patient’s kidney function and azotemia continued to worsen with the BUN reaching 133 mg/dl and creatinine reaching 10.40 mg/dl three days after admission. His metabolic acidosis with an elevated anion gap continued to rise as well, and three days after admission, the patient was started on hemodialysis for symptoms suggestive of uremia. A kidney biopsy was also obtained, considering the worsening renal function, which displayed granulomatous, interstitial nephritis with mild, interstitial fibrosis and variable tubular atrophy (Figure ). The absence of crescents on the renal biopsy placed glomerulonephritis low on the differential. There was no obvious thickening of the glomerular basement membrane and the periodic acid-Schiff (PAS) stain showed only mild atrophic change. As in the patient’s lymph node biopsy, special stains for acid-fast bacilli and Grocott's methenamine silver (GMS) stain for fungus were negative for organisms within the poorly-formed granulomas. The pathologist determined that these ill-defined granulomas were not typical of sarcoidosis. The differential diagnosis for granulomatous change was expanded to include the possibility of drug-related granulomatous interstitial nephritis (GIN) or granulomatosis with polyangiitis (GPA). A diagnosis of GPA, although entertained, was unlikely in the absence of crescents or vasculitic changes. An antineutrophil cytoplasmic autoantibody (ANCA) panel was negative and the serum angiotensin-converting enzyme level was normal. The patient was tested for levels of anti-double-stranded deoxyribonucleic acid (DNA) antibody, anti-scleroderma antibody, cyclic citrullinated peptide (CCP) antibody, rheumatoid factor, and Sjogren’s syndrome-A extractable nuclear antibody, all of which were negative.\nOver the course of his stay, the patient received five sessions of hemodialysis and his labs, including his azotemia and anion gap, improved immensely on this therapy. Upon discharge, 10 days after admission, the patient’s azotemia and metabolic acidosis had resolved completely and he had returned to baseline mental status. The anemia he had on admission, presumably due to chronic disease, had also resolved. The renal consultants recommended that he continue hemodialysis three days per week and be discharged on prednisone, 40 mg daily, to be tapered 10 mg every two weeks.\nAfter the one-month trial of prednisone, he was seen in the clinic and continued to require dialysis as kidney function did not improve. | [[37.0, 'year']] | M | {'17699417': 1, '21993585': 1, '22236893': 1, '12543881': 1, '26847105': 1, '30034968': 2} | {} |
1,305 | 6051770-1 | 30,034,810 | comm/PMC006xxxxxx/PMC6051770.xml | Azygos vein varix mimicking bronchial cysts | A 79-year-old female patient presented with abnormal shadows on a chest X-ray during an annual check-up. The patient had a history of asthma and skin cancer. There was no history of trauma. Blood tests, including for haematology, renal, and hepatic function, were within normal ranges. There were no abnormal findings on electrocardiograms. A plain chest CT showed a well-defined tumour approximately 66 X 65 X 45 mm in size behind the trachea. The tumour was homogenous with 45 Hounsfield units (HU) (Fig. ). Calcification or fat components were not found. Bronchogenic cyst, neurogenic tumour, Castleman disease, and malignant lymphoma were considered possible definitive diagnoses. A high signal on T2W1 images from an MRI indicated a cystic tumour. After explaining the side effects of the contrast agent in patients with asthma, the patient refused an enhanced CT scan. Diagnosed as a bronchogenic cyst, a cyst excision was scheduled. Upon observation with a thoracoscope, a dark purple-red saccular tumour was observed continuing on to the azygos vein (Fig. ). The top of the tumour adhered to the superior vena cava (SVC). The peripheral and proximal sites of the varix were excised using a linear stapler, and the tumour was removed. While waiting for the normalization of liver function, the patient was discharged 6 days after the operation. The patient is alive and well 4 years after the operation. | [[79.0, 'year']] | F | {'20401718': 1, '16538163': 1, '8293650': 1, '15107328': 1, '27014359': 2, '30034810': 2} | {'4805573-1': 1} |
1,306 | 6051949-1 | 30,022,275 | comm/PMC006xxxxxx/PMC6051949.xml | Laparoscopic resection of idiopathic jejunal arteriovenous malformation after metallic coil embolization | A 50-year-old woman presented to our hospital with hematochezia and anemia. 1 year earlier, she experienced severe anemia (hemoglobin 4.0 g/dL) that was treated with a blood transfusion at another hospital. The diagnosis at that time was a hemorrhagic gastric ulcer, and she was treated with a proton pump inhibitor. Contrast-enhanced abdominal computed tomography (CT) done just before the first administration to our hospital showed multiple liver lesions of arterioportal and portal venous shunts, hemangiomas, and a large focal nodular hyperplasia. She had hematochezia and anemia (hemoglobin 7.0 g/dL) again and was referred to our hospital for further examination. Upper and lower gastrointestinal endoscopies including double-balloon enteroscopy did not reveal any bleeding lesions in her esophagus, stomach, duodenum, proximal jejunum, colon, or rectum, although she had grade 1 esophageal varices. Angiographic examination revealed an AVM, with signs of extravasation, at the jejunal branch of the superior mesenteric artery (SMA; Fig. a). Three vasa recta branches of the jejunum at the AVM lesion were embolized with metallic coils to stop the bleeding (Fig. b). The patient was then discharged from the hospital without any complications. Three months after the embolization, she experienced hematochezia and anemia again and was admitted to our hospital. Repeat angiography showed rebleeding from the same AVM, and an additional 3 vasa recta branches were treated with metallic coil embolization (Fig. ). The coil embolization was temporarily successful again. However, because of the risk of another rebleeding from the same AVM in addition to the risk of necrosis of the coil-embolized jejunum, we considered resection of the affected jejunum to be the optimal treatment and recommended this to the patient.\nElective laparoscopic surgery was performed under general anesthesia. Although initial investigation under laparoscopy alone failed to localize the lesion, X-ray fluoroscopy showed a clear image of the metallic coils embolizing the AVM (Fig. a). Subsequently, the small bowel was taken out through the umbilical incision, and the metallic coils were confirmed by palpation under direct vision. Partial resection of the jejunum was performed, followed by functional end-to-end anastomosis using linear staplers (Fig. b). Pathological examination revealed fibrous thickening of the vessels and infiltration of inflammatory cells in the mesentery, suggesting a focal inflammation in response to the coil embolization (Fig. ). There was no necrotic intestine caused by the embolization (Fig. ). She had no complications after surgery and was discharged within 1 week. She did not have any hematochezia after resection of the AVM during 8 months of follow-up. | [[50.0, 'year']] | F | {'24571577': 2, '28189987': 1, '305773': 1, '32890897': 1, '27846454': 1, '9516497': 1, '27117962': 1, '23689262': 1, '313759': 1, '7369806': 1, '25473391': 2, '29358892': 2, '3485353': 1, '27110342': 2, '31108451': 1, '25460480': 1, '31235995': 1, '23008375': 1, '16494547': 1, '299801': 1, '30022275': 2} | {'4241646-1': 1, '4835636-1': 1, '5757121-1': 1, '3938034-1': 1} |
1,307 | 6052139-1 | 30,050,490 | comm/PMC006xxxxxx/PMC6052139.xml | Action Semantics at the Bottom of the Brain: Insights From Dysplastic Cerebellar Gangliocytoma | Patient NA is a 35-year-old, Spanish-speaking, right-handed Argentine man with 14 years of formal education. The patient reported a family history of neurological disease (his grandfather had dementia), psychiatric disease (his grandmother suffered from depression), and an antecedent of sudden death (his older brother died 3 months after birth).\nOn December 20, 2015, at age 33, NA experienced vertigo, low pressure, and generalized body weakness. Four days later, he manifested progressive dysarthria. At the end of January 2016, he suffered from sudden loss of consciousness but resumed normal activities after a few days. Throughout the following month, persistent signs of dysarthria were accompanied by reduced right-hand agility and progressive gait instability – mainly due to right-leg abnormalities. FLAIR and T2 MRI sequences revealed mild hyperintensity on the cerebellum without contrast enhancement, alongside thickened folia, small cysts, and sparing of the fourth ventricle. A posterior biopsy, together with histological and immunohistochemical studies, confirmed the diagnosis of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) as WHO stage IV.\nIn March 2016, NA started pharmacological treatment, shifting between Valcas (250 mg qd), Logical (200 mg tid), and Gabapentin (100 and 200 mg tid). That same year, on September 27, NA was hospitalized after experiencing aggravated vertigo, oscillopsia, and ataxia. Motor-system impairment was variously documented. In addition to right-sided horizontal gaze nystagmus (grade 2) and hearing deficits (negative Rinne’s test on the right side and left-lateralized Weber’s test), neurological examination revealed mild dysarthria, loss of balance (positive Rhomberg’s test), right-dominant muscular hypotonia with preserved force, motor nerve disturbances (positive Hoffman’s test on the right side), and ataxic gait. A follow-up MRI revealed an expansive right cortical-subcortical cerebellar lesion, characterized by hypointensity in T1 and corresponding hyperintensity in T2 and FLAIR, weighted signals with pseudocystic formations and no contrast enhancement, perilesional edema with mass effect on adjacent structures and the fourth ventricle, a right cerebellar nodular mass corresponding to a primary neo-proliferative lesion, and a discrete intensity change on the left cerebellum. No other signs of atrophy or malformations were observed, and lesions were essentially restricted to cerebellar structures. Given the rarity of Lhermitte-Duclos disease – with roughly 220 cases reported by 2006 ()–, alongside its highly focal compromise of the cerebellum and its pervasive impact on motor function (; ), this case offers a unique opportunity to test our hypothesis. | [[35.0, 'year']] | M | {'28296213': 1, '34356122': 1, '16791141': 1, '23036522': 1, '22734053': 1, '28122198': 1, '27679483': 1, '22161499': 1, '28131052': 1, '21302172': 1, '19828143': 1, '28413070': 1, '27811304': 1, '20451552': 1, '17189619': 1, '19068489': 1, '27606341': 1, '22482695': 1, '21462259': 1, '19635178': 1, '26312952': 1, '8880711': 1, '29496261': 1, '28642698': 1, '12039605': 1, '34637999': 1, '26660067': 1, '16099349': 1, '19020203': 1, '17627124': 1, '23996631': 1, '24956569': 1, '15739807': 1, '26803393': 1, '18319727': 1, '12427565': 1, '23798501': 1, '25263602': 1, '17383218': 1, '24967634': 2, '23624313': 1, '17488209': 1, '9169209': 1, '24324434': 2, '24971062': 1, '27189784': 1, '7507615': 1, '26185182': 1, '19002543': 1, '24318484': 1, '11771995': 1, '23887813': 1, '19361785': 1, '9827776': 1, '32848757': 2, '16330501': 1, '16766208': 1, '15670683': 1, '23412746': 1, '15910118': 1, '18692577': 1, '15817019': 1, '26152329': 1, '24594627': 1, '18470815': 1, '20739194': 1, '27501386': 1, '21843884': 1, '22910144': 1, '15959465': 1, '15068918': 1, '20936548': 1, '28205494': 1, '16005477': 1, '12360550': 1, '28764852': 1, '16459996': 1, '30327599': 1, '23792983': 1, '15736871': 1, '28779872': 1, '28119603': 2, '27138646': 1, '11373140': 1, '27834777': 1, '19383506': 1, '28734837': 1, '34758783': 1, '28780312': 1, '19233459': 1, '11931923': 1, '10322473': 1, '11886354': 1, '28080965': 1, '20479175': 1, '26103601': 1, '21126178': 1, '21458788': 1, '2000148': 1, '1953406': 1, '30050490': 2} | {'3840614-1': 1, '7411310-1': 1, '5222788-1': 1, '4072534-1': 1} |
1,308 | 6052489-1 | 30,038,913 | comm/PMC006xxxxxx/PMC6052489.xml | Prostate Abscess Caused by Community-Acquired Methicillin-Resistant Staphylococcus aureus | A 60-year-old male presented to our emergency department with complaints of sudden onset of fever, chills, shortness of breath, and nonproductive cough for 1 day. He also reported having malaise, nausea, and rapid heartbeat. His past medical history included type 2 diabetes mellitus, hypertension, benign prostatic hyperplasia, deep venous thrombosis, hyperlipidemia, and chronic kidney disease stage 3. He denied any associated abdominal pain, diarrhea, dysuria, frequency, hematuria, or perineal discomfort.\nIn the emergency department, his temperature was 40.1°C, blood pressure was 111/51 mm Hg, heart rate was 121 beats per minute, and oxygen saturation was 95% on room air. He was alert, awake, and oriented. Pulmonary, cardiovascular, abdominal, and neurological examinations were unremarkable.\nLaboratory data were significant for white blood cell count of 11.4 × 103/uL (reference: 4.5-11 × 103/µL), serum creatinine of 1.3 (reference: 0.7-1.3 mg/dL), lactic acid of 3.0 mg/dL (reference: 0.5-2.2 mg/dL), and glucose of 355 mg/dL (reference: 80-115 mg/dL). Urinalysis showed 10 to 15 red blood cells/high-power field, with other parameters within normal limits. Liver function tests were normal. Chest X-ray showed chronic hyperventilatory changes. Contrast-enhanced computed tomography (CT) scan of lungs did not reveal any pulmonary embolism or obvious lung consolidation. One set of blood cultures obtained grew gram-positive cocci. Urine culture was pending.\nThe patient was empirically started on intravenous (IV) vancomycin. He continued to have fever and chills, and also reported lower abdominal discomfort and hematuria. As there was no exact source of bacteremia at this point, CT scan of his abdomen and pelvis was obtained for further evaluation, which revealed a focal hypodensity in the right side of the prostate that could be related to a neoplasm or an abscess. Urology team was consulted and a second set of blood cultures was obtained, and IV piperacillin-tazobactam was added to his antibiotic regimen for gram-negative coverage. Subsequently, MRI of prostate confirmed the findings of CT scan, revealing an enlarged prostate pressing on the base of the urinary bladder and a cystic lesion measuring 3.7 × 2.5 × 3.8 cm within the right aspect of the prostate gland ( and ). Final result of first and second sets of blood culture reported methicillin-resistant Staphylococcus aureus (MRSA). Subsequently, a third set of blood culture was also positive for MRSA, making it a total of 3 sets of blood cultures positive for MRSA.\nThe patient underwent transurethral resection and unroofing of the prostate abscess with drainage, and a Foley catheter was placed for urinary drainage. He had significant improvement of his symptoms. Foley catheter was taken out, and the patient was able to void without any problems. Tissue pathology reported benign prostatic chips exhibiting foci of necrosis with mixed inflammation and scattered bacterial colonies, features consistent with abscess. Repeat sets of blood and urine cultures did not report any growth, showing adequate response to treatment. A peripherally inserted central line was placed as the patient required IV vancomycin therapy, and he was discharged in a stable condition. Patient was seen at our hospital by our Urology team about 3 weeks later, and he did not have any urologic issues. Blood and urine cultures were also repeated that did not report growth of any organism. He received a total of 1 month of antibiotic therapy. | [[60.0, 'year']] | M | {'3773105': 1, '15745464': 1, '26019960': 1, '24331435': 1, '18673079': 1, '9490969': 1, '34805434': 1, '32899474': 1, '17940231': 1, '3287559': 1, '14154548': 1, '31430373': 1, '1613887': 1, '5704839': 1, '24085239': 1, '6022479': 1, '28732492': 1, '17030219': 1, '16914702': 1, '32211277': 2, '30038913': 2} | {'7083255-1': 1} |
1,309 | 6052517-1 | 30,021,526 | comm/PMC006xxxxxx/PMC6052517.xml | Pulmonary blastomycosis presenting as primary lung cancer | A 54-year-old African American man initially presented to his primary care provider (PCP) with a two-week history of a non-productive cough and night sweats. The patient was a former smoker (~ 25 pack years) but otherwise had no other significant medical history and his HIV status was negative. Additionally, patient’s travel history as well as pet, home, and occupational exposures were non-contributory. The patient’s PCP prescribed a five-day course of azithromycin for acute bronchitis but he reported no improvement in symptoms. He was subsequently prescribed prednisone and albuterol for bronchospasms but the patient’s cough and night sweats worsened. In addition, the patient reported a 4.5 kg weight loss since the onset of his illness.\nGiven his worsening symptoms, 3 weeks later he underwent a chest x-ray (CXR), which revealed a left hilar mass with extension into the anterior segment of the upper lobe (Fig. ). A computer tomography (CT) scan revealed a 4.2 × 6.4 × 7.2 cm mass in the left upper lobe (LUL) with numerous satellite nodules concerning for primary lung malignancy. A positron emission tomography (PET)/CT revealed 18-fluoro-2-deoxyglucose (FDG) uptake in the LUL mass with a maximum standardized uptake value (SUV) of 24.3 as well as FDG uptake in left hilar lymph nodes with a maximum SUV of 4.3. There was also FDG uptake within a subcutaneous nodule along the superior left gluteal cleft with a maximum SUV of 21.1. The patient reported that this area was initially cystic looking and had been developing for a few weeks to months but was first noticed to be draining purulent fluid around the time of his illness. He was placed on doxycycline by his PCP after the PET/CT result for suspected pilonidal cyst. Bacterial culture from this lesion yielded no growth.\nGiven the concern for primary lung cancer, the patient was referred to cardiothoracic surgery to obtain a tissue diagnosis. His radiographic findings were thought to be consistent with primary lung cancer at a T2N2M0 clinical stage. The patient was taken to the operating room (OR), about 5 weeks after his initial presentation, and underwent a flexible fiberoptic bronchoscopy with biopsies of the LUL mass as well as cervical mediastinoscopy with biopsy of regional lymph nodes. These biopsies revealed no evidence of malignancy and thus the decision was made to pursue video-assisted thoracoscopy surgery (VATS) with lobectomy to obtain a definitive diagnosis and for therapeutic purposes. The patient underwent this procedure the following week. During the procedure, the mass was found to be adherent to the mediastinal pleura in the region of the phrenic nerve and thus not amenable to wedge resection. An intraoperative frozen section of the mass revealed necrotizing granulomatous inflammation. Given this information, the plan for resection was aborted and flexible bronchoscopy with washings for cultures was performed to rule out infection.\nThe biopsy of the LUL mass again revealed no evidence of lung cancer on histopathology. However, yeast forms were seen on the biopsy concerning for Cryptococcus. Concurrently, the fungal cultures obtained from the patient’s bronchial washings had yeast on staining with growth of a mold on culture. These findings were consistent with a dimorphic fungus. This prompted mucicarmine and Fontana-Masson staining of the lung tissue which revealed 5 to 15 μm yeast forms with a double cell wall appearance consistent with Blastomyces (Fig. ). A DNA probe was performed on the positive cultures and this confirmed that the fungus was B. dermatitidis. A fungal culture on his gluteal lesion also grew a mold consistent with B. dermatitidis. In addition, the patient had a positive B. dermatitidis urine antigen. Rest of the patient’s laboratory workup remained negative including Cryptococcus and HIV serology were negative.\nThe patient was started on posaconazole for disseminated blastomycosis for a planned 6–12-month course. He started his course of posaconazole about 7 weeks after his initial visit to his PCP. A repeat CXR 1 month into posaconazole therapy revealed interval decrease in the size of the LUL mass (Fig. ). At his two-month follow-up appointment, the patient reported resolution of his cough and night sweats. He lost about 10 kg over the course of his illness but reported that his weight was stabilizing while on therapy. On examination, his left gluteal cleft lesion had completely healed (Fig. ). | [[54.0, 'year']] | M | {'4872945': 1, '11888958': 1, '33269079': 2, '18365999': 1, '32963686': 1, '24043490': 1, '22564845': 1, '16913971': 1, '13275854': 1, '3685662': 1, '32742488': 1, '8723494': 1, '17072135': 1, '5067267': 1, '5820331': 1, '22116687': 1, '24285817': 1, '13791477': 1, '15472368': 1, '1988756': 1, '14145217': 1, '11816782': 1, '16915161': 1, '17641724': 2, '17495283': 1, '21251563': 1, '18482276': 1, '20375357': 1, '4885288': 1, '30021526': 2} | {'1906866-1': 1, '7685023-1': 1} |
1,310 | 6052571-1 | 30,021,537 | comm/PMC006xxxxxx/PMC6052571.xml | Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report | The 31-year old male proband presented with symmetrical scaling when he was young, which was more prominent on the extensor surfaces of the limbs, along with dark brown, tightly adherent polygonal scales (Fig. ). The soles and palms were unaffected. The proband is the fourth child, and his mother had a similar but less severe phenotype. His father was unaffected. Two of the elder sister had similar phenotype with their mother, and one of them had a 4-year old boy without phenotype. Another elder sister presented slight scaling, whose 12-year old boy presented slight phenotype. In the extended family, 4 affected females had a slight phenotype. The family tree was drawn (Fig. ).\nTo investigate the genetic defects for patients with ichthyosis, a panel of 25 genes (ABCA12, ALOX12B, ALOXE3, CLDN1, COL17A1, COL7A1, CYP4F22, FLG, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MBTPS2, NIPAL4, PLEC, PNPLA1, SLC27A4, SNAP29, SPINK5, ST14, STS, and TGM1) underlying the most common genetic defects for ichthyosis was detected by NGS (BGI-Wuhan). Briefly, all exons with the adjacent 10 bp introns of the 25 genes covering 100,596 bp in length listed above were captured by using a microarray chip, and were further sequenced with Illumina HiSeq2000. Base calling was performed with the Illumina Pipeline. Mutations were identified using the BWA (Burrows Wheeler Aligner) software package against the hg19 human genome reference. The average sequencing depth for target region was 272.2 -fold, and the average coverage was 98.84%. 97.02% of the target region was sequenced for more than 30-fold. Mutation identified by NGS was validated by Sanger sequencing. The detection of exonic deletions using target capture and deep sequencing data was performed using the script for the detection of exonic deletions as previously described []. Deletion of STS gene was further validated by real-time quantitative PCR of genomic DNA isolated from peripheral blood.\nA total of 153 mutations were identified by NGS in the proband. After data processing and filtering referred to inherited model, minor allele frequency (MAF) in 1000G, ExAC, and gnomAD databases, splice effect, computer prediction and so on, hemizygous STS deletion of exon 1–10 (NM_000351) and heterozygous FLG NM_002016: c.3321delA (p.Ser1107SerfsTer15) frameshift mutation were identified as pathogenic mutations in the proband. The deletion of STS gene was confirmed by real-time quantitative PCR using a healthy female and a male subject as control. FLG c.3321delA mutation was confirmed by Sanger sequencing.\nSeveral family members were included. STS deletion of exon 1–10 and FLG c.3321delA mutation were validated in these included family members (Figs and ).\nIn this family, the male proband presented the most severe scaling (Table ). He carried hemizygous STS deletion of exon 1–10 and heterozygous FLG c.3321delA mutation. His mother and one elder sister showed obvious but less sever symptom than the proband harbored heterozygous STS deletion of exon 1–10 and heterozygous FLG c.3321delA mutation. Another elder sister and 12-year old nephew showed slight phenotype carried only heterozygous FLG c.3321delA mutation. Another 4-year old nephew carried only heterozygous FLG c.3321delA mutation had no clinical symptom yet. The proband’s father was unaffected and neither mutation was detected. | [[31.0, 'year']] | M | {'21945601': 1, '17657246': 1, '32158904': 1, '21496060': 1, '25032985': 1, '12838398': 1, '29054605': 1, '34692268': 1, '23301728': 1, '26945532': 1, '20236202': 1, '28875980': 1, '9252398': 1, '28710038': 1, '28407221': 1, '32005174': 1, '12708996': 1, '26421812': 1, '24480088': 1, '26387488': 1, '16444271': 1, '28253503': 1, '30021537': 2} | {} |
1,311 | 6052603-1 | 30,021,525 | comm/PMC006xxxxxx/PMC6052603.xml | A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report | Patient V.3 is a 11 years old boy (Patient V.3, Fig. ), was born at full term by a normal vaginal delivery after uneventful pregnancy, antenatal ultra-sound revealed microcephaly and postnatal head circumference was 30 cm (< 5th centile) and birth weight: 2.8 kg (< 10th centile). He did not suffer any significant postnatal problem. For the developmental history; the patient walked independently at 3 years of age and suffered considerable delayed fine motor skills, mostly a difficulty in the hand-eye coordination movements like writing, zipping a zipper or folding clothes. At clinical examination at the age of 11, this patient presented with short stature at 120 cm (< 5th centile), weight delay at 30 kg (< 5th centile), and head circumference at 45.5 cm (< 5th centile). | [[11.0, 'year']] | M | {'31788460': 2, '25951892': 1, '14192065': 1, '33921653': 2, '21668957': 1, '20978018': 1, '12355089': 1, '10573015': 1, '20729831': 1, '7777856': 1, '11262728': 1, '26846091': 1, '16900296': 1, '20890278': 1, '19931588': 1, '27852057': 1, '20890279': 1, '8930059': 1, '16673149': 1, '19850369': 1, '34728968': 1, '19433002': 1, '25303973': 1, '28940170': 1, '27114917': 1, '33042990': 1, '30021525': 2} | {'6052603-2': 2, '8072659-1': 1, '8072659-2': 1, '6854001-1': 1} |
1,312 | 6052603-2 | 30,021,525 | comm/PMC006xxxxxx/PMC6052603.xml | A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report | Patient V.4 is a female (Patient V.4, Fig. ), 9 years old, who had a similar clinical presentation to her brother (patient V.3); showing developmental delay and microcephaly. She had a reduced head circumference of 42 cm (< 5th centile) and a height of 110 cm (< 5th centile), with aggressiveness and excess salivary production. She was born at term, by normal vaginal delivery after normal pregnancy with birth weight: 2.750 kg and head circumference: 29.5 cm.\nOtherwise, the neurological history in the two siblings didn’t reveal any symptom of hypotonia, seizures, ataxia or cerebral palsy. Moreover, the ocular checking with fundus examination for the two patients proved normal.\nMagnetic resonance imaging scan of the two patients showed a reduced volume of the two cerebral hemispheres with no brain architecture abnormalities, suggesting a proportionately small-sized brain. Based on clinical information and pedigree (Fig. ) the patients were diagnosed with primary autosomal recessive microcephaly.\nInformed consent was obtained from the parents prior to initiation of laboratory work. Peripheral blood was collected from the probands and their parents. Genomic DNA was extracted from blood using QIAamp DNA Blood Mini Kit (Qiagen Valencia, CA). WES was performed in probands (Patients V.3 and V.4, Fig. ); 500 ng of fragmented DNA (enzymatic fragmentation, Kapa Hyper Plus Kit) was amplified in compliance with user guide, and was subjected to enrichment with SeqCap EZ Human Exome v3.0 (Roche Nimblegen). The 64 enriched megabases were sequenced using an Illumina HiSeq 2500 system in rapid run paired-end mode (2x100bp). Raw data (bcl files) was converted to FASTQ files using bcl2fastq v1.8.4 (Illumina). Sequences were analyzed as recommended by GATK best practices: mapping was performed using BWA-MEM, variant calling using GATK (haplotype caller). Annotation and filtering steps were performed using VariantStudio (Illumina). Variants files of parents and index case were confronted: only variants that fulfilled recessive inheritance pattern were selected. Among them, variants with allele frequencies above 1% in ESP6500 exome project, and variants not predicted to be deleterious were excluded.\nThe established variants were cross-checked with the 1000 genomes database (/), with the Exome Variant Server (), HGMD () and with the « clinvar » database ().\nUpon WES, we detected a homozygous mutation c.1027C > T; p.Gln343* in exon 8 of the WDR62 gene (Fig. ). Findings from Whole Exome Sequencing (WES) were confirmed by Sanger sequencing. Reference sequence identifier for wild-type WDR62 was obtained from GenBank; Accession: NG_028101, Version: NG_028101.1. Primers of exon 8 of WDR62 (NM_001083961) were designed using Primer express software V3.0. The exon 8 of WDR62 gene was amplified with Taq PCR Master Mix Kit (Qiagen Valencia, CA) using a standard amplification protocol, the sequencing reaction was set up with Big Dye Terminator 3.1 (Applied Biosystems) and remaining dye nucleotides were removed with SephadexTM G-50 superfine (GE Healthcare). Analysis of the amplicons was performed on automated sequencer Applied Biosystems Prism 3130 DNA Analyzer. Obtained sequences were aligned to the reference genome (GRCh37/hg19) using DNA Variant analysis software (Mutation Surveyor® software).\nSegregation of the mutation in the family was confirmed by sequencing which showed, as expected, this mutation in the affected children and demonstrated that their parents carry this mutation in heterozygous state (Fig. ).\nThis mutation was previously unreported in various databases (dbSNP, 1000-genomes, Exome Variant Server) and also in our 40 samples of Moroccan exome data results (personal data). This mutation leads to a stop codon 343. | [[9.0, 'year']] | F | {'31788460': 2, '25951892': 1, '14192065': 1, '33921653': 2, '21668957': 1, '20978018': 1, '12355089': 1, '10573015': 1, '20729831': 1, '7777856': 1, '11262728': 1, '26846091': 1, '16900296': 1, '20890278': 1, '19931588': 1, '27852057': 1, '20890279': 1, '8930059': 1, '16673149': 1, '19850369': 1, '34728968': 1, '19433002': 1, '25303973': 1, '28940170': 1, '27114917': 1, '33042990': 1, '30021525': 2} | {'6052603-1': 2, '8072659-1': 1, '8072659-2': 1, '6854001-1': 1} |
1,313 | 6052688-1 | 30,021,595 | comm/PMC006xxxxxx/PMC6052688.xml | Kikuchi-Fujimoto disease in children: two case reports and a review of the literature | Timeline\nA 12-year-old boy was admitted to our hospital with fever (38–39 °C) of 4 days’ duration and bilateral cervical lymphadenopathy. Five years earlier, while living in Sri Lanka, he had been admitted to the local hospital for intermittent fever of 12 days’ duration, mild cough, abdominal pain and significant bilateral cervical lymphadenopathy. Blood tests revealed very high LDH levels (2360 IU/L) and cytomegalovirus (CMV) antibodies (IgG and IgM). An abdomen ultrasound scan (US) was normal. Given the persistent fever and LDH levels, excisional biopsy of a cervical lymph node was performed, on the suspicion of a malignant lymphadenopathy. The histological analysis showed a lymphoid follicular hyperplasia with paracortical expansion and large areas containing immunoblasts, histiocytes and apoptotic cells, while atypical cells were absent. The clinical signs associated with the histological features suggested the diagnosis of KFD.\nOn his first examination after admission to our Emergency Pediatric Department, the patient was febrile and had a painful lymphadenopathy (3 cm in diameter) in the right side of the neck. His physical development was normal. Initial investigations revealed a mild increase in CRP (1.79 mg/dL) and hepatic enzymes (AST 51 IU, ALT 81 IU). Viral markers showed a past CMV infection while markers for Epstein Barr Virus (EBV), Toxoplasma gondii, Adenovirus and Parvovirus were negative. Angiotensin-converting enzyme (ACE) levels were normal. A chest X-ray was normal, while a neck US showed the presence of two hypoechoic and slightly inhomogeneous lymph nodes, with rich vascularized hilum and no evidence of colliquative phenomena. Some other small lymph nodes were also found in the submandibular region. Given the association of fever, cervical lymphadenopathies and mildly elevated inflammatory index, intravenous antibiotic therapy with cefotaxime (100 mg/kg/day) and analgesic oral therapy with paracetamol were started.\nA tuberculin intradermal reaction was negative. As the blood tests confirmed the increase in hepatic enzymes, an abdomen US was performed, showing severe steatosis. Hepatitis B and C and HIV viral markers were negative; hepatic autoantibodies and LKM were negative, ANA and ASMA were mildly positive (ANA 1:80 homogeneous pattern, ASMA 1:80 vascular pattern), anti ds-DNA and the complement fraction (C3 and C4) were normal. Thyroid function, cholesterol (LDL and HDL) and A and B apolipoprotein were normal. Blood and urine copper and serum ceruloplasmin levels were normal. Urine galactose and fructose were normal.\nDue to the persistence of intermittent fever, lymphadenopathy and the appearance of a diffuse erythematosus and itchy rash on the trunk, arms, and legs, an excisional lymph node biopsy was performed. The cytometric investigation showed B lymphocytes with non-malignant features, with just a reduced CD4 to CD8 lymphocyte ratio. The histologic exam revealed histiocytic necrotizing lymphadenitis, confirming the diagnosis of recurrent KFD (Fig. , Fig. ). The microscopic and cultural exams were negative.\nThe intermittent fever lasted 15 days, then the patient’s general condition improved, with progressive complete normalization of blood tests. The boy was discharged without therapy. Seven days later, at the follow-up visit, he was still afebrile and in good general condition. | [[12.0, 'year']] | M | {'12923340': 1, '22520354': 1, '27056102': 1, '25974073': 1, '24714877': 1, '10874877': 1, '16893860': 1, '25213279': 1, '16538388': 1, '3662766': 1, '15578393': 1, '20121621': 1, '11091837': 1, '2787597': 1, '32523919': 1, '12649409': 1, '15545615': 1, '15272543': 1, '21075702': 1, '27777431': 1, '7841711': 1, '26555310': 1, '14671650': 1, '24240133': 1, '7793478': 1, '2186643': 1, '18067022': 1, '33768826': 2, '3509749': 1, '21291855': 1, '32411416': 1, '10979202': 1, '26852178': 1, '30021595': 2} | {'6052688-2': 2, '7981657-1': 1} |
1,314 | 6052688-2 | 30,021,595 | comm/PMC006xxxxxx/PMC6052688.xml | Kikuchi-Fujimoto disease in children: two case reports and a review of the literature | Timeline\nA previously healthy 16-year-old Chinese girl came to the Emergency Pediatric Department with progressive fever, cough, headache and tender right cervical lymphadenopathy of four days’ duration. She also complained of intense fatigue and dizziness and had had two episodes of syncope. She was initially treated at home with oral amoxicillin/clavulanate for four days, without improvement. On physical exam, she had a tender right retro-angulo-mandibular lymphadenopathy of 3 cm in diameter, without hepatosplenomegaly, and hyperemic pharynx. An initial US revealed the presence of multiple bilateral lymphadenopathies of different sizes (the largest 2.7 cm) with inflammatory characteristics (hypo-anechoic and hypervascularized nodes with perilesional hyperechoic tissues). CRP was 2.06 mg/dL (normal value < 0.5 mg/dL). A complete blood count revealed leukopenia with a white blood cell count (WBC) of 3690 cells/mm3. A broad-spectrum intravenous antibiotic therapy was started (cefotaxime 100 mg/kg/day), with partial regression of the lymphadenopathies and resolution of the fever. After six days, she recommenced having two daily fevers of up to 41 °C with progressive enlargement of the lymphadenopathies, which became extremely painful. New tender bilateral lymphadenopathies appeared in the inguinal and axillary areas. Blood tests revealed a worsening leukopenia with WBC 1930 cells/mm3, neutrophils 760 cells/mm3, ESR 33 mm/h (normal value < 20 mm/h), ferritin 1303 ng/dL, LDH 857 U/L. Due to persistent dry cough, oral clarithromycin was started (15 mg/kg/day). A thorax X ray and abdominal US were normal, while lymph node US was unchanged. EBV, human immunodeficiency virus (HIV), CMV and multiple other viral, bacterial and fungal serum tests were all negative. Mantoux and Quantiferon Test were negative. Autoimmune lymphoproliferative syndrome was ruled out, due to the absence of α/β double-negative T cells.\nGiven her history suspicious for hematological disorders, bone marrow aspiration was performed, which revealed a slightly hypocellular marrow, with focal evidence of hemophagocytosis. Flow cytometry was negative for lymphoproliferative disorders and cytogenetic testing was normal. Perforin gene mutations were absent. Due to the persistence of high fever and painful lymphadenopathies, cefotaxime was replaced by piperacillin/tazobactam (150 mg/kg/day) and vancomycin (40 mg/kg/day). After 24 h, there was regression of the fever by lysis and regression of the systemic lymphadenopathies, associated with an improvement in inflammatory markers, except for persistent neutropenia.\nOne week later, the fever returned and the patient reported intense fatigue, malaise and progressive enlargement of the previous lymphadenopathies, which were extremely painful and swollen. An excisional cervical lymph node biopsy was then performed, which was diagnostic for KFD (Fig. ): as in case 1, the biopsy revealed wedge-shaped subcapsular necrotic foci composed of fibrinoid material with karyorrhectic debris, histiocytes with plasmacytoid features and crescentic nuclei, and several mitotically active immunoblasts; no granulocytic component was found. While in case 1 the finding was focal in the lymph node (that showed an overall preserved architecture with hyperplastic germinal centers) but extensive in the tissue fragments, in this case the lymph node was effaced by numerous necrotic foci. Immunohistochemistry revealed in both cases a T-cell phenotype (CD3+, CD2+, CD5+, CD7+, CD43+, CD8+ > CD4+) for the immunoblasts, along with focal and weak positivity for CD30, and a high proliferation index (Ki-67 / MIB-1 = 60%); ALK-1, EMA, CD25, CD56 and TdT were all negative. The B-cell markers CD20 and PAX5 highlighted only a few, scattered B-cells. Plasmacytoid histiocytes stained positively for CD68PG-M1 and CD123. In situ hybridization for Epstein-Barr virus was negative.\nThis histological picture suggested a T-cell neoplasm as the main differential diagnosis [, ]: however, the absence of T-cell antigen loss and of polyclonal T-cell receptor gamma chain rearrangement [] were not indicative of a T-cell malignancy. Additionally, the clinical history, and the somewhat peculiar histological features (presence of a histiocytic component with typical plasmacytoid morphology in the background of fibrinoid necrosis, and absence of a granulocytic component), were indicative of KFD (relapsed in case 1) in the “proliferative” phase [–].\nAfter 4 days, the fever spontaneously disappeared. However, inflammatory markers were still elevated, with alteration of liver enzymes and coagulation pattern (ALT 875 U/L, AST 342 U/L, LDH 1682 U/L, CRP 3.65 mg/dL, ferritin 9329 ng/mL, APTT 1.30, D-Dimer 2888 ng/mL, WBC 1500 cells/mm3, neutrophils 760 cells/mm3), suggestive of initial HLH. The patient was started on pulsed methylprednisolone therapy (1 g/day for 3 days) followed by prednisone (1.5 mg/kg/day) in combination with cyclosporine (4 mg/kg/day). A rapid improvement in her lymphadenopathies, fever and constitutional symptoms was seen soon after immunosuppressive therapy was started. A progressive normalization of blood analysis was also observed, with improvement of the leukopenia.\nAlthough her symptoms improved with high doses of prednisone, the clinical course was complicated by the development of glucocorticoid-induced diabetes and hypertension. After four days of steroid treatment, the patient had a sudden rise in blood pressure (162/108 mmHg) associated with headache and malaise. Some hours later, she presented two generalized tonic-clonic seizures with cyanosis, requiring the administration of oxygen and intravenous diazepam. We performed an urgent computerized tomography (CT) brain scan, which was normal. Given the combination of generalized seizures, high blood pressure and immunosuppressive therapy, magnetic resonance imaging (MRI) of the brain was then performed, which showed pathological alterations suggestive of posterior reversible encephalopathy syndrome (PRES). An electroencephalogram (EEG) proved abnormal and antiepileptic therapy with Levetiracetam (750 mg/day) was started, achieving good control of the crisis. The hypertension was treated with amlodipine (10 mg/day). Follow-up brain MRI and EEG after 10 days showed a complete normalization of the previously described neurological alterations, thus confirming the diagnosis of PRES. Levetiracetam was then stopped and the anti-hypertensive therapy was gradually reduced. The patient continued high dose corticosteroids with a slow taper over several months in combination with cyclosporine and was discharged in good clinical condition. | [[16.0, 'year']] | F | {'12923340': 1, '22520354': 1, '27056102': 1, '25974073': 1, '24714877': 1, '10874877': 1, '16893860': 1, '25213279': 1, '16538388': 1, '3662766': 1, '15578393': 1, '20121621': 1, '11091837': 1, '2787597': 1, '32523919': 1, '12649409': 1, '15545615': 1, '15272543': 1, '21075702': 1, '27777431': 1, '7841711': 1, '26555310': 1, '14671650': 1, '24240133': 1, '7793478': 1, '2186643': 1, '18067022': 1, '33768826': 2, '3509749': 1, '21291855': 1, '32411416': 1, '10979202': 1, '26852178': 1, '30021595': 2} | {'6052688-1': 2, '7981657-1': 1} |
1,315 | 6052696-1 | 30,021,659 | comm/PMC006xxxxxx/PMC6052696.xml | First evidence of Besnoitia bennetti infection (Protozoa: Apicomplexa) in donkeys (Equus asinus) in Belgium | In July 2016, a private veterinarian referred a donkey characterised by poor body condition and chronic skin lesions to the Faculty of Veterinary Medicine of Liège (Belgium).\nA two year old male donkey (Grand Noir du Berry breed), was purchased in May 2016 in poor body condition (weight loss, alopecic areas, pruritus mainly on neck and head, dirty long and matted hair) by the present owner in Le Roeulx in Belgium (50°31'49.48"N, 4°06'56.33"E). This jack came from a milk producing donkey farm in Frasnes-lez-Buissenal, Belgium (50°40'11.31"N, 3°37'11.19"E; Fig. ). A treatment with phoxim (Sarnacuran®) was given with no improvement.\nShortly after its purchase, the animal was shorn revealing crusts and hyperkeratosis (on both flanks and the neck). The animal was anorexic and in poor body condition. A closer clinical examination in August highlighted scleral pinhead sized cysts (pearl) in the right eye and between nares (Fig. ). The rest of the examination was unremarkable.\nAnother ten year old female donkey (Grand noir du Berry breed), purchased several years ago in France (Loire region) by the same owner and sharing the same accommodation, was in good clinical condition. However, further clinical examination showed the presence of numerous cysts on the inner face of upper labial mucosa.\nThe two donkeys were kept in a fenced area (below 1 ha). The animals were fed a standard donkey food regimen composed of hay, supplemented with protein-containing grain (oats) and occasional fruits and vegetables. Previous medical treatments included routine vaccinations and prophylactic deworming (based on ivermectin). Other animal species (cats, dogs, chickens and rodents) had free access to the farm and the paddock buildings. Numerous flies were observed in the paddocks (Stomoxys calcitrans and Musca spp.).\nSkin scrapings were performed in different places (mainly flanks and neck where the lesions were the most obvious) on both animals. A culture on Sabouraud dextrose agar-chloramphenicol (0.5 per 1000 m/w for three weeks at 37°C) yielded a negative result for ringworm. Microscopic examination of the hair revealed neither fungal spores nor ectoparasites. A Giemsa staining of an impression smear also gave negative results.\nSeveral skin biopsies were taken using an 8 mm biopsy punch. Histopathology and DNA extraction for qPCR and PCR were performed on those skin samples. After collection of the sample, the material was stored in 10% phosphate-buffered formalin for histological examination and in 70% ethanol for molecular analyses. The formalin-fixed sample was bisected and embedded in paraffin wax at 56 °C, sectioned at 4 μm, cut and stained with haematoxylin and eosin for routine evaluation. This technique was performed by a veterinary diagnostic laboratory (Medvet, Antwerpen, Belgium).\nIn the clinically affected patient, focal spongiosis epidermis was observed. In the dermis, there was a perivascular eosinophilic infiltrate and in the deep dermis a large thick-walled (28 μm) cyst (313 × 344 μm) packed with bradyzoites present (Fig. ). With the exception of a perivascular eosinophilic infiltrate, the histopathological preparation from the other animal was unremarkable.\nSeveral blood samples were taken for haematology and biochemistry analysis from both patients. A blood sample from the male gave unremarkable results except a light anaemia [haemoglobin 10.1 d/l (normal range 11–19 d/l), red blood cells 5.22 106/mm3 (normal range 6.5–12.5 106/mm3), haematocrit 30% (normal range 32–52%)], an eosinophilia [15.5%; 1631/mm3 (normal range < 5% and < 500/mm3, respectively)] and an increased gamma globulin fraction [32.8%; 23.9 g/l (normal range 13–21% and 5.5–19 g/l, respectively)]. A blood sample from the female revealed only an eosinophilia (12.7%, 916/mm3).\nAn in-house western blot was performed to detect specific antibodies in both donkeys. The procedures were adapted from previous publications []. Sera were tested from two sampling dates (4th August 2016 and 9th September 2016) at 1:50 dilution for each donkey. Peroxidase-labelled goat anti-horse IgG conjugate [anti-horse IgG (Whole molecule)-peroxidase, Sigma-Aldricht, Saint-Quentin Fallavier, France] was used at 1:150 dilution. A molecular weight marker was used (Precision Plus Protein standards, Bio-Rad, Basel, Switzerland). Serum from a cow chronically infected with B. besnoiti was used as a positive control, whereas serum samples from uninfected cattle and donkeys were used as negative controls. Serum was considered positive when at least four out of ten bands of specific tachyzoites antigens (45, 40, 37, 34, 30, 27, 22, 17, 16 and 15 kDa) were observed [, ]. Figure shows the results of the western blot. Serum from the male donkey exhibited a strong positive result according to criteria defined by others [] and was even stronger one month later; the female donkey yielded a similar observation.\nDNA from skin biopsies (50 mg) from both donkeys were extracted with the QIAmp® DNA Mini Kit (Qiagen, Courtaboeuf, France) according to the manufacturer’s recommendations. Besnoitia spp. internal transcribed spacer 1 (ITS-1) amplification was performed with the commercial PCR kit AdiaVetTM Besnoitia (AES Chemunex, Bruz, France). The quantitative PCR was performed with the Stratagene MX3005P thermal cycler (Agilent Technologies, La Jolla, CA, USA), and results were analysed using the MxPro QPCR version 4.10 software (Agilent Technologies). A threshold cycle (Ct) value equal to or greater than 40 corresponded to a negative result []. Sterile water and genomic DNA from healthy donkeys were used as negative controls. A positive control was provided by a genomic DNA extract of purified B. besnoiti tachyzoites cultivated on Vero cells []. The skin sample from the male was highly positive with a Ct of 25 but no Besnoitia DNA was detected in skin sample from the female.\nFollowing qPCR results, only the positive Besnoitia DNA sample was used for specific identification. A portion of ribosomal DNA cistron containing 5 genes [18S, ITS1, 5.8S, internal transcribed spacer 2 (ITS2) and 28S] was amplified using the primers Bes-F and Bes-R as designed by others [] and synthesized by Eurogentec (Angers, France). The PCR reaction was performed in a total volume of 50 μl per sample with 5 μl DNA template, 10 pmol of each primer and 25 μl of the Taq PCR Master Mix® (Qiagen) containing (final concentrations) 1.5 mM MgCl2, 200 μM of each dNTP, 1.25 units of Taq polymerase and Qiagen PCR Buffer 1× (pH = 8.7). The PCR was performed in a GeneTouch Thermal Cycler (Bioer, Hangzhou, China) using the following program: 94 °C for 3 min (initial denaturation), 35 cycles at 94 °C for 45 s, annealing at 61 °C for 60 s and extension at 68 °C for 60 s, with a final extension step at 68 °C for 10 min. Positive and negative controls were the same as those used for qPCR. PCR products were sequenced directly in both directions with the primers used for DNA amplification at the genomic facility GeT-Purpan (Federative Institute for Bio-medical research, Toulouse, France). The 938 bp rDNA sequence containing complete sequences of 5.8S and internal transcribed spacers (ITS1 and ITS2), and partial sequences of 18S and 28S is deposited in GenBank under the accession number MG652473. This sequence was aligned to other sequences of besnoitiosis agents available in the GenBank database, B. besnoiti (DQ227419, DQ227418, AY833646, DQ227420) and B. caprae (HM008988), using Muscle in the Mega 7 software [] (Fig. ). Sequences of Toxoplasma gondii (GenBank: X75429) and Neospora caninum (GenBank: GQ899204) were also included as outgroup. Phylogenetic relationships were inferred using three different molecular methods: neighbour joining (NJ), maximum parsimony (MP) and maximum likelihood (ML) with selection of the best model for nucleotide substitution by the Find Best DNA Model test implemented in Mega 7 (for NJ and ML methods). Reliability of the phylogenetic trees using Tamura-3 parameter + I model (NJ and ML) was tested using 1000 bootstrap replicates (NJ, ML and MP).\nBesnoitia bennetti infection was confirmed by the ITS1 sequencing. The ITS1 sequence (244 bp) was completely identical with B. bennetti ITS1 sequences already deposited in the GenBank database (AY827839, AY665399 and JQ013812). ITS1 sequence comparisons between B. bennetti, B. besnoiti, B. caprae and B. tarandi have been previously performed [] and emphasized the close relationship between besnoitiosis agents infecting ungulates []. Moreover, as 5.8S (164 bp), ITS2 (393 bp) and partial 18S (56 bp) and 28S (81 bp) sequences are not currently available in the GenBank database for B. bennetti, phylogenetic tree reconstructions were performed using this partial 938 bp rDNA sequence with B. besnoiti and B. caprae rDNA sequences. The phylogenetic tree reconstructed using the NJ method supported an identical topology to that of the ML and MP analyses (Fig. ). These trees confirmed that B. bennetti isolated from the equid host (donkey) was a distinct species to Besnoitia species (B. besnoiti and B. caprae) from bovid hosts (cattle and goat, respectively).\nTaking all these results a diagnosis of besnoitiosis was established in both animals.\nA daily treatment based on sulfamethoxazole and trimethoprim (Emdotrim 60% Mix®, 30 mg/kg) was given orally to the affected animal and some improvement was noticed.\nFollowing the diagnosis, the affected animal was treated for four months with sulfamethoxazole and trimethoprim alongside a discontinued hepatoprotective treatment (Sédochol®). The animal gained weight and no more skin conditions were visible. | [[2.0, 'year']] | M | {'19143129': 1, '25227418': 1, '20378250': 1, '32493413': 1, '17317014': 1, '24694568': 1, '21906696': 1, '22607601': 1, '33723661': 1, '23830145': 1, '15862579': 1, '4203448': 1, '8410950': 1, '20941630': 1, '23064799': 1, '16822616': 1, '28490374': 1, '26143866': 1, '16025209': 1, '17089758': 1, '27004904': 1, '25096291': 1, '22742966': 1, '27198769': 1, '30021659': 2} | {} |
1,316 | 6052887-1 | 30,050,867 | comm/PMC006xxxxxx/PMC6052887.xml | Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature | A 39-year-old Hispanic male of Salvadoran ancestry and no significant past medical history and a nonspecific family history of cancer, presented to the hospital with epigastric abdominal pain, nausea, and vomiting. Abdominal ultrasound showed multiple hypoechoic hepatic masses measuring up to 4.5 centimeters (cm) and the appearance favored metastatic disease. A follow-up computed tomography scan of chest, abdomen, and pelvis showed bilateral pulmonary embolus, retroperitoneal lymphadenopathy, and re-demonstration of the hepatic lesions (Figure ). The patient underwent an ultrasound-guided liver biopsy, with pathology showing moderately to poorly differentiated adenocarcinoma with immunohistochemical stains favoring pancreatobiliary origin. A subsequent esophagogastroduodenoscopy and colonoscopy identified no definite primary malignancy. Due to the small amount of tumor tissue obtained on biopsy, comprehensive cfDNA analysis (Guardant360) was ordered with the goal of finding a targetable therapeutic mutation.\nOver the 2 weeks following his clinical evaluation, the patient’s symptoms worsened and he was re-admitted to the hospital for intractable nausea and vomiting, abdominal pain, and subjective fever and chills. Further workup showed no evidence of bowel obstruction; however, the findings were highly suspicious for ischemic enteritis due to tumor obstruction of the portal vein. Given patient’s extremely debilitated state and poor performance status with an ECOG of 3, he was deemed not to be a candidate for further systemic therapy. He was discharged to home on hospice care and died within a few days.\nGuardant360 is a New York State Department of Health-approved comprehensive cfDNA NGS assay that evaluates tumor derived genomic alterations in up to 73 genes and is performed at Guardant Health (Redwood City, CA, USA), a CLIA certified, College of American Pathologists (CAP) accredited laboratory. The gene list was selected to prioritize the identification of genomic alterations that are actionable—therapeutically targetable for an approved or late stage therapy, prognostic or predictive of therapeutic response, or informative of the presence of tumor-derived cfDNA. Point mutations in 73 genes, small insertions and/or deletions (indels) in 23 genes, copy number amplifications (CNAs) in 18 genes, and fusions in six genes are evaluated. single-nucleotide variants (SNVs), indels, and fusions are reported with a corresponding mutant allele fraction (MAF), calculated as the percentage of calls at a specific genomic position that are mutant over those that are wild type or mutant [mutant/(mutant + wild type)]. The reportable range for SNVs, indels, fusions, and CNAs is ≥0.04, ≥0.02, ≥0.04, and ≥2.12 copies, respectively (). The median (or 50th percentile) MAF across more than 5,000 clinical samples tested on Guardant360 is 0.39%.\ncfDNA was resulted after the patient’s death and were notable for the following four alterations and their corresponding MAF: BRCA2 R2520* (66.02%), TP53 L344P (20.92%) and R337G (19.26%), and MET Y989fs (0.21%) (Table ). The BRCA2 MAF twofold higher than the TP53 MAF and within the range suspicious for germline variants. This finding, in combination with the patient’s young age at cancer diagnosis and nonspecific maternal family history of an early onset abdominal malignancy, raised the suspicion for a hereditary cancer syndrome.\nThe genetic counselor was contacted by the medical oncologist to discuss the identification of the potentially germline BRCA2 alteration identified in cfDNA. ClinVar and PubMed were both searched to determine if this particular alteration had been previously identified in the literature as a pathogenic germline mutation. R2520* corresponds to dbSNP:rs80358981 and in the clinical literature is reported as c.7558C > T (p.Arg2520*) or as 7786 C > T (R2520X). This nonsense mutation is located in exon 15 of the BRCA2 gene and creates a premature stop codon. It is classified as pathogenic in ClinVar by all reporting clinical laboratories as well as by ENIGMA curation (). A literature review found multiple publications that included reports of families with this mutation (–) and confirmed clinical history of HBOC.\nThe patient’s medical oncologist reviewed the cfDNA results with the deceased patient’s wife and offered her a genetics consultation to further discuss the findings and their potential implications. The patient’s wife was very interested in obtaining more information and a consult was scheduled with the medical oncologist and genetic counselor. During this visit, a discussion was held as to the role of somatic and germline mutations in cancer etiology and subsequently the parents contacted the counselor within 2 weeks of the initial consultation, confirming that they would participate in a consultation. The genetic counselor met with both parents and expanded on the family history previously reported. The 62-year-old mother confirmed that her father (patient’s maternal grandfather) was diagnosed with and died of stomach cancer at age 49 and her mother (patient’s maternal grandmother) died at 85 with no personal history of cancer. The 70-year-old father reported a maternal uncle (patient’s paternal great-uncle) with prostate cancer, diagnosed at an unknown age, and several first cousins with colorectal and uterine cancers, at unknown ages of diagnosis. After genetic counseling and a discussion of the limits and benefits of genetic testing, both parents underwent clinical genetic testing utilizing a multi-gene panel (Invitae Corporation, San Francisco, CA, USA). In addition, both consented to an USC IRB approved cancer genetics registry (0S-12-4). All family members agreed to publication or presentation of the results for scientific purposes and their agreement is noted in their medical records. No mutations were identified on the father’s analysis, but the mother was found to carry the same BRCA2 mutation (c.7558C > T; R2520*) identified on the patient’s cfDNA analysis, confirming the diagnosis of HBOC within the family.\nBoth parents, as well as the deceased patient’s wife, presented to review the results of the genetic testing. The patient’s mother is 62, with one ovary intact; so, the personal implications for cancer risk management and prevention were discussed. In addition, she has other adult children who each has 50% probability of having inherited the BRCA2 mutation. A family member letter was provided to facilitate communication of the patient’s mother’s genetic test results to her offspring. The deceased patient’s wife was counseled that given her children’s current age, no testing was indicated, as it would not impact their care. However, once they are adults they should discuss testing with their health-care providers, as breast cancer risk management begins at age 25 for mutation-positive women. | [[39.0, 'year']] | M | {'27993330': 1, '29423521': 1, '25646187': 1, '25123297': 1, '26324357': 1, '27469594': 1, '26590952': 1, '21990146': 1, '23836314': 1, '28466157': 1, '28947568': 1, '28978556': 1, '26556299': 1, '29872715': 1, '25877891': 1, '26209359': 1, '26101870': 1, '28873162': 1, '25863477': 1, '27854360': 1, '25682074': 1, '26787237': 1, '28989037': 1, '27083775': 1, '27601595': 1, '22397650': 1, '29263839': 1, '26667234': 1, '30050867': 2} | {} |
1,317 | 6053254-1 | 30,034,975 | comm/PMC006xxxxxx/PMC6053254.xml | Varied Clinical Presentations, the Role of Magnetic Resonance Imaging in the Diagnosis, and Successful Management of Cervical Leiomyomas: A Case-Series and Review of Literature | Case 1: Giant cervical fibroid polyp mimicking incarcerated procidentia\nA 47-year-old woman presented with the complaint of huge irreducible mass protruding out of vagina since last two months. She also had complaint of heavy menstrual bleeding and dyspareunia since last one year. General physical examination, systemic examination and per abdomen examination was unremarkable. On local examination, a 13 cm x 13 cm x 8 cm solid fleshy pedunculated mass was seen dangling from the vaginal introitus (Figure ).\nThe surface was irregular, friable and necrotic. It had an offensive odor owing to large epithelial tissue slough. The surrounding vaginal walls were hypertrophied & inflamed. On per vaginum examination, pedicle was felt but exact origin could not be ascertained. Bimanual examination was restricted due to mass and neither cervix was felt separately nor uterus was made out. Therefore the exact origin of the mass couldn’t be recognized and the presumptive differential diagnosis of incarcerated procidentia or chronic inversion of uterus or degenerated fibroid polyp was made. Transabdominal ultrasound revealed a normal-sized uterus inside pelvis with a huge protruding vaginal mass. The cervix could not be appreciated separately on ultrasound. MRI pelvis helped us in making the diagnosis of prolapsed cervical fibroid polyp clearly. It showed uterus which was normally placed inside the pelvis & a huge mass measuring 13 cm x 8 cm lying outside introitus originating from cervix (Figure ).\nThe patient was managed with parenteral broad spectrum antibiotics, regular dressings of the mass with glycerine-acroflavin solution along with saline irrigation before surgery. Pre-operative biopsy from the surface of the mass revealed only chronic inflammation along with necrosis at the surface without any malignant changes. Actual anatomy of the mass and its relationship with surrounding structures was delineated when the patient was examined under anesthesia in operation theatre. After retracting the mass, we could visualize the external os and a huge fibroid polyp was seen originating from the posterior lip of the cervix surrounded by hypertrophic vaginal walls (Figure ).\nAfter amputation of the cervical fibroid polyp, normal anatomy of the cervix, surrounding vagina and pelvic floor was identified. We proceeded with hysterectomy as patient also had abnormal uterine bleeding and desired hysterectomy. Intra-operative blood loss was average and there were no intra-operative or post-operative complications. Histopathology of the specimen also confirmed the diagnosis of leiomyoma with degenerative changes at the surface. | [[47.0, 'year']] | F | {'14712998': 1, '23065174': 1, '22935303': 1, '25775880': 1, '9594689': 1, '24997386': 1, '18977609': 1, '8866393': 1, '21973154': 1, '31406544': 1, '22960976': 1, '9656118': 1, '12640157': 1, '30034975': 2} | {'6053254-2': 2, '6053254-3': 2} |
1,318 | 6053254-2 | 30,034,975 | comm/PMC006xxxxxx/PMC6053254.xml | Varied Clinical Presentations, the Role of Magnetic Resonance Imaging in the Diagnosis, and Successful Management of Cervical Leiomyomas: A Case-Series and Review of Literature | Case 2: Cervical fibroid polyp mimicking pelvic organ prolapse\nA 45-year-old multiparous lady presented with the complaint of a mass coming out of vagina since last three years which was gradually increasing in size over the time. The mass was reducible and the protrusion of the mass was usually preceded by prolonged standing, sitting in squatting position and straining. She also had complaints of lower abdominal pain, dragging sensation, and dyspareunia since last two years. The symptoms mimicked the clinical presentation of pelvic organ prolapse. General physical examination, systemic examination and per abdomen examination was unremarkable. On inspection, a 5 cm × 5 cm mass was seen with overlying stretched vaginal wall (Figure ) and mimicked cystocele.\nHowever, on per vaginum examination, the mass was felt arising from anterior lip of cervix and didn’t transmit cough impulse. On bimanual examination, the normal- size uterus was felt separately from the mass. On further examination, no cystocele/ rectocele/ utero-cervical descent were found. Transvaginal ultrasound revealed a similar sized mass arising from the cervix along with a normally placed uterus. MRI pelvis revealed a 5 cm × 5 cm sized cervical leiomyoma with whorled appearance, arising from anterior lip of cervix (Figure ).\nPatient underwent successful vaginal myomectomy without any intra-operative and postoperative complications. Histopathology of the resected specimen confirmed leiomyoma without any secondary changes. | [[45.0, 'year']] | F | {'14712998': 1, '23065174': 1, '22935303': 1, '25775880': 1, '9594689': 1, '24997386': 1, '18977609': 1, '8866393': 1, '21973154': 1, '31406544': 1, '22960976': 1, '9656118': 1, '12640157': 1, '30034975': 2} | {'6053254-1': 2, '6053254-3': 2} |
1,319 | 6053254-3 | 30,034,975 | comm/PMC006xxxxxx/PMC6053254.xml | Varied Clinical Presentations, the Role of Magnetic Resonance Imaging in the Diagnosis, and Successful Management of Cervical Leiomyomas: A Case-Series and Review of Literature | Case 3: Huge cervical fibroid presenting with acute urinary retention\nA 30-year-old nulliparous lady presented to emergency room with the complaint of inability to pass urine for last one day along with lower abdominal pain. She also had complaints of excessive bleeding during menses and dyspareunia for the last one year. On clinical examination, the vital parameters were stable. She had mild pallor. Systemic examination was unremarkable. On per abdomen examination, a huge mass was felt reaching upto the umbilicus. Patient was catheterized and bimanual examination was done which revealed a huge mass sized 15 cm x 15 cm, firm in consistency with irregular surface arising from the cervix and occupying the whole pelvis. Ultrasound revealed a same-sized pelvic mass arising from the lower body of uterus and cervix (which was not visualized separately). MRI pelvis revealed a mass of 15 cm × 15 cm size with typical whorled appearance which was arising from cervix and lower uterine body. The uterus was normal sized and was placed just above the cervical fibroid giving it a typical “Lantern of St Paul’s dome” appearance (Figure ).\nMRI also showed mild bilateral hydroureters and hydronephrosis. Her kidney function test and urine analysis were unremarkable. Urine culture didn’t show any growth. Pre-operatively, her hemoglobin was optimized to 12 gm/dl. Considering the complication of obstructive uropathy due to huge cervical fibroid & her parity, we proceeded with abdominal myomectomy. On laparotomy, a large central cervical fibroid measuring 15 cm x 15 cm x 9 cm was seen impacted in the pelvis and displacing the uterus upwards. After careful delineation of the surrounding structures and bladder dissection, successful intra-capsular enucleation of cervical fibroid was done. There were no intra-operative complications and patient stood the surgery well. Histopathology of the mass confirmed the diagnosis of leiomyoma. Her postoperative ultrasound showed resolution of bilateral hydronephrosis. | [[30.0, 'year']] | F | {'14712998': 1, '23065174': 1, '22935303': 1, '25775880': 1, '9594689': 1, '24997386': 1, '18977609': 1, '8866393': 1, '21973154': 1, '31406544': 1, '22960976': 1, '9656118': 1, '12640157': 1, '30034975': 2} | {'6053254-1': 2, '6053254-2': 2} |
1,320 | 6053285-1 | 30,038,878 | comm/PMC006xxxxxx/PMC6053285.xml | Central Odontogenic Fibroma: A Case Report | A 16-year-old boy reported to the clinical department of Armed Forces Institute of Dentistry (AFID), Rawalpindi, Pakistan, with a slow-growing swelling on the left side of his face for the past two years. He had no other active complaints apart from a slight discomfort upon mastication. His past medical, family, and social history were considered non-contributory to the case.\nUpon extraoral examination, marked facial asymmetry extending from the left parasymphysis to the angle of the mandible on the left side of the face was noticed, but no ulceration or change of color of the overlying skin was observed. The submandibular lymph node of the left side was palpable (Figure ).\nAn intra-oral inspection revealed a swelling extending from tooth 32 to the ramus of the mandible (involving the retromolar area of the left side), causing a displacement of teeth 34, 35, and 37. A bicortical expansion of the mandibular plates was noticed, but there was no evidence of paresthesia.\nAn orthopantomogram of the patient showed a large unilocular radiolucency extending from the left parasymphyseal area of the mandible up to the ramus; the inferior alveolar canal was displaced toward the lower border of the angle of the mandible. Root resorption of teeth 33, 34, 35, and 37 was seen along with the residual roots of tooth 36. The margins of the lesion appeared well defined (Figure ).\nConsidering the clinical and radiographic evidence, a differential diagnosis of an odontogenic keratocystic tumor, unilocular ameloblastoma, and odontogenic myxoma was made.\nAn incisional biopsy revealed a fibro-osseous lesion and the section of the soft tissue showed fragments of fibrocollagenous tissue with a mild lymphoplasmacytic infiltrate. Sections from the bony tissue showed trabeculae of lamellar and woven bone with osteoblastic rimming and intervening spindle cell stroma.\nSurgical excision of the lesion was planned two months after the biopsy. The lesion, along with spongy bone, was removed after being exposed intra-orally through the extraction site of teeth 34, 35, 36, and 37 (Figures -).\nAfter washing the cavity with normal saline, Cornoy’s solution was applied, taking special care of the inferior alveolar nerve. A bismuth iodine paraffin paste (BIPP) dressing was applied (Figure ) and the specimen was sent for histopathological evaluation to the Armed Forces Institute of Pathology.\nThe histopathological report concluded the presence of tissue fragments lined by stratified squamous epithelium with dense lymphoplasmacytic infiltrate. Other fragments from the specimen revealed loose spindle-shaped cells in fibrocollagenous stroma with a myxoid appearance in some areas. Moreover, nests of odontogenic epithelium were also seen in between the fibroblastic stroma (Figure ).\nComplementing previous findings with conclusive histopathological results, a final diagnosis of central odontogenic fibroma was established. The patient was scheduled for further follow-ups; on the third-month follow-up, a significant decrease in the patients extraoral swelling was observed (Figure ). | [[16.0, 'year']] | M | {'16313094': 1, '11507519': 1, '15356466': 1, '10587271': 1, '8986968': 1, '31420001': 2, '15995576': 1, '7898916': 1, '6936527': 1, '30038878': 2} | {'6697953-1': 1} |
1,321 | 6053508-1 | 30,057,591 | comm/PMC006xxxxxx/PMC6053508.xml | Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome | Individual 1 is a 41 years old female admitted to hospital at the age of 36 years. She was the second born child of healthy, unrelated, mid-30 parents with no family history of congenital defects. She was born at 38 weeks of uncomplicated gestation. Her birth weight, birth length, and the head circumference were 2900 g (-0.65 SD), 48 cm (-1.04 SD), and 30 cm (-3.31 SD), respectively. She presented with hirsutism and mild musculoskeletal anomalies were also noted including small hands and feet, together with bilateral clinodactyly of the fifth finger. A mild craniofacial dysmorphism was also observed (Figure and Table ).\nAt infancy she exhibited a slight hypertonia, poor sucking reflex and a poor weight gain. At the age of 2 years she started to suffer from constipation. She was able to sit unsupported around the age of 8 months, walk independently around the age of 13 months. She started to pronounce syllables around the age of 2 years, used simple words around the age of 3 years, but only at the age of 4 years she started to speak with full sentences. She finished regular primary and secondary school with a great help from her parents. She is a very nice person, easily making contact with other people. Currently, with her parents’ help, she is taking care of her son (Individual 2). Her first pregnancy terminated with a miscarriage at the 23rd week of gestation, but prenatal genetic tests were not performed in that case. All clinical features are summarized in Table .\nIndividual 2, the 8 years old son of Individual 1, was the first-born child of 33-year-old mother and 34-year-old healthy father. The pregnancy was complicated by gestational diabetes, regulated by diet and insulin. He was born at 38 weeks of gestation by cesarean section due to placental insufficiency. His birth weight, birth length, and the head circumference were 2870 g (-1.01 SD), 49 cm (-0.91 SD), and 32 cm (-2.07 SD), respectively. His hands and feet were small but not malformed. Bilateral clinodactyly of the fifth finger was evident. He presented with hirsutism and mild craniofacial dysmorphism (Figure and Table ).\nHe demonstrated cryptorchidism and inguinal hernia. In addition, transient hypoglycemia, icterus, and lack of the sucking reflex were observed. During infancy, he had clinical features compatible with gastroesophageal reflux disease (GERD), although it could not be confirmed by pH-metry and endoscopy. The audiometry and auditory brainstem response (ABR) performed at the age of 1 year revealed a mild bilateral sensorineural hearing loss (20 dB). Hand roentgenograms performed in the age of 3 years revealed a delayed bone age.\nThe patient exhibited motor and language delays. He was able to sit unsupported around the age of 12 months and to walk independently around the age of 18 months. He started to speak syllables around the age of 2 years, simple words around the age of 4 years. At the present time, he still has limited speech abilities. He presents with autistic-like features, some episodes of aggression, and self-injurious behavior. All clinical features are summarized in Table . | [[41.0, 'year']] | F | {'15146185': 1, '26054435': 1, '16604071': 1, '26925417': 2, '26671848': 1, '23505322': 1, '22885700': 1, '17273969': 1, '20331678': 1, '30538663': 1, '24918291': 1, '22633399': 1, '24038889': 1, '34326454': 1, '29155047': 1, '31157197': 1, '15146186': 1, '26701315': 1, '26931183': 1, '24635725': 1, '30057591': 2} | {'4746300-1': 1} |
1,322 | 6053624-1 | 29,741,153 | comm/PMC006xxxxxx/PMC6053624.xml | Prolonged detection of dengue virus RNA in the semen of a man returning from Thailand to Italy, January 2018 | In January 2018 a previously healthy Caucasian man in his early 50s returning from Thailand to Italy was admitted to the National Institute for Infectious Diseases ‘Lazzaro Spallanzani’ (INMI) in Rome, Italy, for primary dengue fever (DF) diagnosed in Thailand with a commercial rapid test. At the patient’s admission on day 9 from symptom onset (DSO), he was still symptomatic (arthralgia, asthenia and nausea). DF diagnosis was confirmed by detection of dengue virus (DENV)-specific antibodies (IgM and IgG, titre 1:160 and 1:40, respectively), using indirect immune fluorescence assay (IFA, Arboviral Fever Mosaic-2, IgM and IgG, Euroimmun, Hamburg, Germany), and viral RNA using real-time RT-PCR (CDC DENV-1–4 Real-Time RT-PCR Assay, Atlanta, United States (US)) in samples from different body fluids.\nIn particular, DENV-RNA was detected in serum (cycle threshold, Ct: 38.5) and in unfractionated samples of urine (Ct: 37.2) and semen (Ct: 31.8) (see also Table 1). A pan-flavivirus genus-specific nested RT-PCR targeting the non-structural protein (NS)-5 gene (modified from Moureau G et al.) [], followed by the amplicon sequencing, showed DENV type 2 in all samples.\nRoutine laboratory tests reported a slight decrease in platelet count (122 x103/µL; norm: 150–450 x103/µL) and increased levels of alanine aminotransferase (46 U/L; norm: 5–40 U/L), gamma-glutamyltransferase (53 U/L; norm: <45 U/L) and unfractioned bilirubin (1.20 mg/dL; norm: 0.2–1.0 mg/dL). Rapid test, thin and thick smear and PCR for malaria were negative; chikungunya and Zika (ZIKV) virus specific IgM and IgG were negative as well as specific RT-PCR in serum and urine. | [[52.5, 'year']] | M | {'9431381': 1, '18020965': 1, '32337177': 1, '30063220': 1, '28499872': 1, '32325652': 1, '29112766': 1, '31357540': 1, '32854298': 1, '34441280': 1, '28883959': 1, '33133043': 1, '27074370': 1, '29241605': 1, '29176348': 1, '28838639': 1, '28857045': 1, '28056096': 1, '29058663': 1, '32121148': 1, '31616923': 1, '27882301': 1, '29741153': 2} | {} |
1,323 | 6053720-1 | 30,029,601 | comm/PMC006xxxxxx/PMC6053720.xml | Fatal interstitial lung disease associated with Crizotinib pathologically confirmed by percutaneous lung biopsy in a patient with ROS1-rearranged advanced non-small-cell lung cancer: a case report | A 47-year-old female Chinese patient was admitted to our hospital in January 2018 due to complaints of continuous cough and a feeling of breathlessness for more than a week. The patient did not have a history of alcohol consumption or smoking. She refused to reveal a special occupational history and the medical history of her family.\nA chest computed tomography (CT) scan revealed a large, irregularly shaped mass on the upper right lobe, accompanied by multiple nodules, plaques and consolidated masses of different sizes, randomly distributed in both lung fields. Nodular thickening of the interlobular septa and fissures, which suggested lymphangitis carcinomatosa, hilar and mediastinal lymphadenopathy and bilateral pleural effusions, was identified by the CT scan as well (Fig. ).\nAn immediate drainage was conducted for the right pleural effusion, followed by a series of tests. Methylprednisolone (MP) at 80 mg/day was administered to alleviate dyspnoea associated with lymphangitis carcinomatosa. With oxygen therapy via a nasal catheter at a flow rate of 6 L/min, her arterial blood gas was measured to have values of a PaO2 of 55.0 mmHg, a PaCO2 of 32.0 mmHg, and a pH of 7.49. The carcinoembryonic antigen (CEA) level in hydrothorax was 7.5 μg/L (normal 0–5 μg/L), whereas the serum CEA level was 12.4 μg/L. The rest of the important blood and sputum test indicators are described in Table .\nWith a poor performance status (PS = 4), the patient was unable to withstand tissue biopsy acquisition. A great number of tumour cells positive for thyroid transcription factor-1 (TTF-1) and cytokeratin 7 (CK 7) were confirmed by pathological haematoxylin-eosin (HE) staining examination of hydrothorax, combined with immunohistochemical staining. These observations led to a diagnosis of advanced lung adenocarcinoma with extensive dissemination in the chest (Fig. ).\nNext-generation sequencing was then conducted on tumour cells of hydrothorax. The SDC4-ROS1 fusion gene was detected at an abundance of 19.8% in the malignant pleural effusion (MPE). Other mutations, such as those in the EGFR, ALK, KRAS, BFAF, HER2, PIK3CA, MET, and RET genes, were not detected (Fig. Z17L06517, Fig. ). The patient was thus orally administered crizotinib at a dose of 250 mg twice per day. After three days of crizotinib treatment, the orthopnoea was greatly relieved, and MP medication was withdrawn. However, oxygen therapy was still required within a one-week time frame of administration. On the tenth day of medication, the patient had a low-grade fever and slight aggravation of dyspnoea. A chest CT re-scan revealed a significant shrinkage of intrapulmonary neoplastic lesions, lymphadenitis and lymphadenectasis. However, multiple new-onset ground-glass opacities and consolidations were detected throughout both lungs (Fig. ). The patient was then additionally treated with cefoperazone/sulbactam to exclude the possibility of infection.\nIn addition, a re-examination of blood tumour markers, infection-related indicators, and characteristics of hydrothorax, combined with percutaneous lung biopsy, was undertaken to clarify the cause. CEA in the pleural fluid and serum increased to 13.6 μg/L and 52.7 μg/L, respectively, after crizotinib medication. Other important indicators are described in Table . Consistent with the CT scan, the pathology of hydrothorax suggested a significantly reduced number of tumour cells. Three columnar specimens of percutaneous biopsy from the new-onset consolidation area on the lower left pulmonary were collected promptly, all of which were 1 cm in length and 18 gauge in diameter. Histological observation of these biopsies revealed a diffuse alveolar oedema, thickening of the septa (Fig. ), macrophages or foamy macrophages prominently present in differently sized alveolar spaces (Fig. ), mild infiltration of inflammatory lymphocytes, monocytes, fibroblasts, and myofibroblasts in the interstitium (Fig. ), rare and atypical hyaline membrane formations in alveolar spaces (Fig. ), multiple hyaline thrombi (microthrombi) in pulmonary arterioles of partial areas (Fig. ), and atypical hyperplasia of type II alveolar epithelial cells in localized areas (Fig. ). There was no evidence of infections and invasion of tumour cells. All these pathological changes were consistent with acute lung injury. The pathological stage was assumed to be a transition from exudation to organization. The patient denied having previous pulmonary-related diseases, and there were no other drugs that might potentially cause lung toxicity during crizotinib treatment. Therefore, we made a diagnosis of crizotinib-induced ILD.\nMP pulse therapy (0.5 g once per day) was immediately substituted for the original crizotinib treatment and applied for three days. Tracheal intubation and mechanical ventilation were also undertaken because of progressive deterioration leading to respiratory failure. All necessary and additional treatment procedures were conducted to prevent ILD, but the patient died 20 days after the first administration of crizotinib. Upon approval of her family, next-generation sequencing analysis of a lung biopsy sample was performed, which revealed a de novo exon 19 deletion mutation in EGFR, not detected in MPE before treatment with crizotinib (Fig. Z17L03579, Fig. ). On the other hand, the frequency of ROS1 rearrangement decreased after crizotinib treatment (Fig. ). The occurrence of this phenomenon deserves special consideration and investigation of current crizotinib treatment in NSCLC patients.\nWritten informed consent has been obtained from the patient’s family for the publication of this case report and accompanying images. | [[47.0, 'year']] | F | {'28428274': 1, '28088512': 1, '24349229': 1, '24872405': 1, '27575422': 1, '22661537': 1, '23169500': 1, '28373069': 1, '25264305': 1, '22215748': 1, '26200268': 1, '30029601': 2} | {} |
1,324 | 6053764-1 | 30,029,635 | comm/PMC006xxxxxx/PMC6053764.xml | Reversible cataract after exposure to distilled water: a case report | A 20-year-old male was admitted to our clinic for refractive surgery. The patient’s uncorrected distance visual acuity (UDVA) was 20/300 in both eyes, and the best corrected distance visual acuity (BCDVA) was 20/20 in both eyes (right eye − 3.50 –4.00 × 180, left eye − 3.00 –5.50 × 175). The patient’s cornea and lens were clear under a slit-lamp microscope. Specular microscopy showed no morphological abnormality of the corneal endothelial cells, with an endothelial cell density of 3145 mm2 in the right eye and 3165 mm2 in the left eye. With a diagnosis of complex myopic astigmatism, the patient was scheduled to have small incision lenticule extraction (SMILE) surgery after the astigmatism was reduced by full-thickness astigmatic keratotomy in both eyes.\nBilateral astigmatic keratotomy was performed on the right and left eyes with informed consent. Briefly, 5.7-mm-long full-thickness incisions were made in the 12:00 o’clock direction in the right eye and the 12:05 o’clock direction in the left eye; the rest of the surgery was performed as described previously []. During the surgery, anterior chamber reformations were performed by infusing 12 mL of syringe fluid into the right eye and 3 mL of syringe fluid into the left eye. Shortly afterwards, a decrease in corneal transparency and opaque anterior chambers in both eyes were noted under a surgical microscope. We examined the infused fluid and found that distilled water had mistakenly been loaded into the syringe instead of BSS. The anterior chambers of both eyes were promptly irrigated thoroughly with BSS, and the surgery was completed.\nImmediately after surgery, very dense superficial punctate keratitis appeared in both eyes, involving the entire cornea. The anterior chamber reactions were difficult to observe, and moderate corneal edema was evident. The patient complained of blurred vision with mild pain in both eyes. Topical 1% prednisolone acetate (Pred Forte®; Allergan, Westport, Ireland) and 5% NaCl (Muro128®; Bausch and Lomb, Rochester, NY, USA) eye drops were applied every 4 h to treat the bilateral inflammation induced by intracameral infusion of distilled water.\nThe next day, the patient’s BCDVA was 20/50 in the right eye and 20/40 in the left eye. Intraocular pressure was 12 mmHg in the right eye and 11 mmHg in the left eye. The patient still complained of blurred vision but had no pain in either eye. Corneal edema persisted with pachymetry showing a central corneal thickness (CCT) of 650 μm in the right eye and 580 μm in the left eye, but the extent of the diffuse superficial punctate keratitis decreased, with the anterior chambers showing reactions of 4+ in the right eye and 3+ in the left eye. Thin vacuolar anterior subcapsular opacity was seen in the lens of the right eye (Fig. ), although the lens of the left eye was clear. Anterior segment optical coherence tomography (OCT) confirmed the opacity was located beneath the anterior capsule (Fig. ). One week after surgery, the patient’s BCDVA was 20/30 in the right eye and 20/25 in the left eye. The corneal edema of both eyes decreased slightly with a CCT of 592 μm in the right eye and 555 μm in the left eye. The anterior chamber reactions in the right eye and left eye were 2+ and 1+, respectively. The thin anterior subcapsular cataract decreased in a centripetal pattern, allowing partial recognition of the clear lens in the nondilated state (Fig. ). Two weeks after surgery, the patient’s BCDVA was 20/25 in the right eye and 20/20 in the left eye. Mild corneal edema remained with a CCT of 560 μm and 523 μm, respectively, and the anterior chamber reactions in the right eye and left eye decreased to 1+ and trace, respectively. The cataract became smaller, showing a marginal moth-eaten appearance (Fig. ). One month after surgery, the corneal and anterior chambers were clear in both eyes. The cataract further decreased in size (Fig. ) and exhibited a starry appearance (Fig. ). The patient’s UDVA was 20/300, and the BCDVA was 20/20 in both eyes (right eye − 4.75 –1.25 × 10, left eye − 4.50 –1.00 × 175). Corneal endothelial cell densities were 1852 mm2 in the right eye and 2762 mm2 in the left eye.\nAs the inflammation in the anterior segment subsided and refraction became stable in both eyes, SMILE surgery was performed at 2 months after the astigmatic keratotomy. One week after the SMILE surgery, the patient’s UDVA was 20/20 in both eyes. Three months after the SMILE surgery, the UDVA was 20/25 and the BCDVA was 20/30 in both eyes (right eye + 0.50–0.25 × 180, left eye + 0.25–0.25 × 180). No surgical complications, such as keratitis or keratectasia, manifested during the 3-month postoperative follow-up, and the subcapsular cataract of the right eye became fainter (Fig. ), clearly showing a decrease in the center and the 4 o’clock direction of the opacity (Fig. ). | [[20.0, 'year']] | M | {'4278188': 1, '1267929': 1, '2373160': 1, '16374041': 1, '34441906': 1, '977257': 1, '11377915': 1, '8352312': 1, '23056872': 2, '5660376': 1, '26418429': 1, '8430734': 1, '18235923': 1, '6978258': 1, '30029635': 2} | {'3448229-1': 1, '3448229-2': 1} |
1,325 | 6053866-1 | 30,038,911 | comm/PMC006xxxxxx/PMC6053866.xml | Fatal Type B Lactic Acidosis Associated With Metastatic Colorectal Cancer: A Case Report With Review of Literature, Pathogenesis, and Treatment | A 64-year-old Caucasian female presented with complains of right side upper abdominal pain and nausea for 2 months. The pain was progressively getting worse and exacerbated with food. She had lost 10 lbs during this period due to nausea. She did not have any fever, diarrhea, sick contacts, trauma, or recent medication changes. She had chronic hypertension but was not on any medication at home. She had diagnostic colonoscopy 2 months before this admission as outpatient, which showed a partially obstructing mass in the ascending colon, but she was unable to follow-up. She did not have any other surgical history. She was an active smoker with 20 pack-year smoking history. She denied any alcohol or drug use, allergies, and family history of cancer. Her ECOG (Eastern Cooperative Oncology Group) performance status before admission was 1.\nShe was normotensive (134/76 mm Hg), afebrile, and not tachycardic (94/minute). Her physical examination was remarkable for mild abdominal distention. She had moderate right upper abdominal quadrant tenderness to palpation. There was no guarding, rebound, rigidity, or organomegaly. No masses could be palpated on examination. Her neurological, cardiovascular, pulmonary, and dermatological examination was normal.\nLaboratory studies on day of admission showed hemoglobin 8.2 gm/dL (normal = 12.0-16.0 gm/dL), white blood cells 19 200/mL (normal = 4500-11 000/mL), platelets 618 000/mL (normal = 140 000-440 000/mL), serum sodium 131 mEq/L (normal = 135-145 mEq/L), potassium 3.9 mEq/L (normal = 3.3-4.6 mEq/L), chloride 90 mEq/L (normal = 101-110 mEq/L), bicarbonate 14 mEq/L (normal = 21-29 mEq/L), anion gap 27 mEq/L (normal = 4-16 mEq/L), blood urea nitrogen 23 mg/dL (normal = 6-22 mg/dL), creatinine 0.7 mg/dL (normal = 0.6-1.1 mg/dL), and uric acid 5.4 mg/dL (normal = 3-8.2 mg/dL). Her glucose, phosphorus, calcium, urinalysis, and lipase were normal. Lactic acid was elevated 7.2 mmol/L (normal = 0.7-2.7 mmol/L). Liver enzymes were also elevated with aspartate aminotransferase 222 IU/L (normal = 14-33 IU/L), alanine aminotransferase 58 IU/L (normal = 10-40 IU/L), total bilirubin 3.5 mg/dL (normal = 0.2-1.0 mg/dL), normal partial thromboplastin time, and normal international normalized ratio. Arterial blood gas showed pH 7.43 (normal = 7.35-7.45), pCO2 29 mm Hg (normal = 35-45 mm Hg), pO2 52 mm Hg (normal = 80-100 mm Hg), and pHCO3 19.6 mmol/L (normal = 23-29 mmol/L). CEA was 50 ng/mL (normal less than 2.5 ng/mL). HIV and hepatitis tests were negative.\nRadiological evaluation with computed tomography scan of the chest, abdomen, and pelvic showed multiple subcentimeter pulmonary nodules, diffuse hypodense lesions throughout the liver resulting in pseudo-nodular appearance of the hepatic contour, subcentimeter retroperitoneal lymph nodes, and within the proximal ascending colon approximately 3.9 cm mass ( and ).\nUltrasonogram of the abdomen showed no intrahepatic or extrahepatic ductal dilatation. The patient was admitted for further evaluation. She was started on broad spectrum antibiotics. Blood, urine, and stool cultures were obtained. There was no evidence of organ hypoperfusion, sepsis, drug use, or malabsorption. The cultures remained negative. After ruling out other causes of lactic acidosis it was deemed due to malignancy associated lactic acidosis. The patient was continued on intravenous fluid with addition of bicarbonate with multivitamin supplementation. On day 3 the patient had liver biopsy of one of the lesions in the liver. Throughout the hospital stay, her laboratory parameters were progressively getting worse, as shown in .\nOn day 6 of admission the patient became confused, hypoxic, and unable to maintain airway. Arterial blood gas showed pH 6.99 (normal = 7.35-7.45), pCO2 46 mm Hg (normal = 35-45 mm Hg), pO2 68 mm Hg (normal = 80-100 mm Hg), and pHCO3 11 mmol/L (normal = 23-29 mmol/L). She was intubated for airway protection. Biopsy of the liver mass demonstrated metastatic poorly differentiated adenocarcinoma () with immunohistochemistry stains positive for CK-20, CDX-2, and negative for CK-7, suggesting colorectal primary.\nThe family was informed about her condition and they decided against intensive care or aggressive interventions and requested comfort measures only with hospice care. The patient passed away on the sixth day of hospitalization. | [[64.0, 'year']] | F | {'17632264': 1, '25977687': 1, '10698099': 1, '21855042': 1, '34703431': 2, '26043862': 2, '25588681': 2, '25394449': 1, '25719593': 2, '16869054': 1, '21789467': 1, '28620552': 1, '26800971': 1, '27661862': 1, '25755446': 1, '21444936': 1, '12110638': 1, '21768714': 1, '10048478': 1, '32076124': 1, '15543020': 1, '32041182': 1, '25548327': 1, '30038911': 2} | {'5588234-1': 1, '4375706-1': 1, '8460932-1': 1, '4325955-1': 1} |
1,326 | 6054328-1 | 30,042,914 | comm/PMC006xxxxxx/PMC6054328.xml | Paraneoplastic Inflammatory Arthritis | A 51-year-old male with a history of well-controlled HIV infection on anti-retroviral treatment presented to the rheumatology clinic for the evaluation of a two-month history of symmetric polyarthritis involving bilateral knees, ankles, and feet. The joint was aching, and the pain was present at rest and with activity. The pain is associated with joint swelling and morning stiffness lasting approximately one hour. He was previously treated with a two-week course of prednisone 20 mg daily without any improvement of his symptoms. The patient was diagnosed with HIV at the age of 33 and he was on ART regimen, including efavirenz 600 mg, emtricitabine 200 mg, and tenofovir 300 mg. His most recent CD4 count was 382 with an undetectable HIV viral load.\nThe patient’s vital signs were within normal limits. The physical examination was remarkable for tenderness to palpation in his feet and knees. There was ankle synovitis with moderate effusion, limiting the range of motion. Cervical lymph nodes were enlarged, mobile, and non-tender. There was no other lymphadenopathy or hepatosplenomegaly on examination.\nRadiographs of both knees revealed bilateral large suprapatellar effusions. Left knee arthrocentesis was performed and demonstrated a white blood count of 27,900 cells/mm3 (0-200 cells/mm3) with no crystals. Erythrocyte sedimentation rate and C-reactive protein were elevated at 54 mm/hr and 122 mg/L, respectively. Other studies, including synovial fluid gram stain, cultures, antinuclear antibody, rheumatoid factor (RF), cyclic citrullinated peptide antibody, and rapid plasma reagin were all negative. The patient’s symptoms did not improve with a trial of a higher dose of prednisone - 40 mg daily and intramuscular triamcinolone injection. The addition of sulfasalazine and methotrexate did not provide any relief to the patient’s symptoms. He developed progressive swelling of his cervical lymph nodes, decreased appetite, nausea, and recurrent emesis. The patient lost approximately 12 kg (26 lb) over the period of three months. On initial evaluation, the calcium level was normal but eight weeks later, his calcium level increased to 13 mg/dl. Computed tomography revealed extensive lymphadenopathy involving the cervical lymph nodes (Figure ).\nImaging studies also demonstrated further lymphadenopathy in the mediastinum, abdomen, and pelvis with the largest measuring 9.5 x 15 cm, as well as splenomegaly (Figures -). There was no evidence of any bony lytic or sclerotic lesions. The patient gradually developed an altered mental status, requiring hospital admission. Initial admission laboratory studies were significant for a calcium level of 19.3 mg/dL, creatinine of 2.04 mg/dL, and uric acid level of 17.6 mg/dL.\nThe patient’s overall clinical presentation was consistent with tumor lysis syndrome from hematologic malignancy. He was treated in the intensive care unit for severe hypercalcemia and he received intravascular fluids, zoledronic acid, and calcitonin. This resulted in an improvement in renal function and hypercalcemia.\nWorkup for the hypercalcemia showed an elevated parathyroid-hormone-related peptide level of 6.1 pmol/ml (normal level < 2.5), low parathyroid hormone at the level of 6.4 pg/ml (normal 10-65), and normal levels of 1,25-hydroxyvitamin D and 25-hydroxyvitamin D, supporting a paraneoplastic etiology for the hypercalcemia. A right submandibular lymph node biopsy was performed that yielded the effacement of the lymphoid architecture by a diffuse sheet-like proliferation of large lymphoid cells that had enlarged irregular nuclei with vesicular chromatin and prominent nucleoli (Figure ).\nImmunoperoxidase stains showed that the neoplastic cells were strongly and diffusely positive for CD20, CD79A, BCL2, and LCA and negative for CD10, BCL-6, CD5, and cyclin D1. These findings were consistent with diffuse large B-cell lymphoma (DLBCL). Bone marrow biopsy and cerebrospinal fluid cytology excluded bone marrow and central nervous system involvement. Based on these results, our patient was diagnosed with HIV-associated diffuse large B cell lymphoma (DLBCL). | [[51.0, 'year']] | M | {'9110138': 1, '6644712': 1, '1410900': 1, '2936936': 1, '8867541': 1, '16150940': 1, '17604284': 1, '3662644': 1, '10621879': 1, '16371804': 1, '30042914': 2} | {} |
1,327 | 6054329-1 | 30,042,917 | comm/PMC006xxxxxx/PMC6054329.xml | Topical Treatment of Eyebrow Hypotrichosis with Bimatoprost 0.03% Solution: Case Report and Literature Review | A 60-year-old healthy Caucasian woman presented for evaluation and treatment for eyebrow alopecia; she did not have any other site of hair loss. She reported having thin eyebrows and would previously shape her eyebrows by plucking the hairs with tweezers. She did not have any other medical conditions.\nExamination of the eyebrows revealed sparse and thin black hairs (Figure ). Examination of her scalp and face did not reveal alopecia elsewhere; specifically, neither frontal hairline recession nor temporal cobble stoning were noted. Similarly, she had no additional areas of hair loss on her body.\nThe patient was diagnosed with idiopathic eyebrow hypotrichosis. She was prescribed bimatoprost 0.03% solution for use to the affected areas daily. The patient was educated that improvement in her eyebrow hypotrichosis would be gradual. Periodic follow-up every two months was performed. At each visit, the patient reported compliance with once a day application of the bimatoprost 0.03% solution; increased hair growth and thickening of the eyebrow hairs was observed. She had no treatment-associated side effects. After eight months, she had complete regrowth of her eyebrows (Figure ); her daily topical treatment with bimatoprost 0.03% solution is being continued. | [[60.0, 'year']] | F | {'18039016': 1, '24471459': 1, '25006850': 1, '20384750': 1, '23617229': 1, '22206085': 1, '21457389': 1, '29503529': 1, '22594928': 1, '31824136': 1, '27124878': 1, '24017987': 1, '28264599': 1, '24945645': 1, '16286616': 1, '30042917': 2} | {} |
1,328 | 6054358-1 | 30,042,921 | comm/PMC006xxxxxx/PMC6054358.xml | Nonrecurrent Laryngeal Nerve: Precise Detection by Electrophysiological Nerve Monitoring | A 53-year-old woman presented to our department with signs and symptoms of multinodular goiter (MNG). Bulky hypertrophy of the thyroid gland at the anterior neck was determined by inspection. Larger nodules with regular margins were palpated in both lobes by physical examination. Serum thyroid-stimulating hormone and free thyroxine levels were normal by biochemical analysis. Thyroid ultrasound revealed multiple nodules in both lobes. Bigger nodules were a 50 x 36 x 40 mm hypoechoic solid nodule in the right lobe and a 33 x 25 x 37 mm isoechoic solid nodule in the left lobe. Fine needle aspiration from dominant nodules revealed benign cytology. The diagnosis was MNG. Total thyroidectomy under the guidance of IONM was planned as the surgical treatment. Informed consent was obtained from the patient.\nThe right thyroid lobe was partially mobilized after ligation of the middle thyroid vein. The carotid sheath was incised, and the right vagus nerve (VN) was located behind the carotid artery and the jugular vein. Direct stimulation of the VN with the stimulator probe at a standard distal point did not create a sound signal. The absence of a distal V1 (d-V1) signal revealed the early proximal separation of the inferior laryngeal nerve and eventual presence of the non-RLN. The carotid sheath incision was extended toward the cephalic direction. The right VN was proximally followed under the guidance of IONM with serial electrophysiological stimulation to identify the separation point of the inferior laryngeal nerve. A positive signal from a proximal point of stimulation (p-V1 = 648 µV) helped us to locate the separation point of the right inferior laryngeal nerve. Stimulation of the inferior nerve when first identified at the separation point posterior to the carotid artery created a positive sound signal and wave amplitude (R1 = 661 µV). Both lower and upper poles of the right lobe were carefully dissected, and the lobe was mobilized medially. The right non-RLN arising from the proximal VN was identified and fully exposed until laryngeal entry (Figure ). Vagus signals were negative if the stimulator probe’s contact point was located distal to the non-RLN separation and positive if it was located proximal to the separation. Post-dissection non-RLN (R2 = 721 µV) and proximal VN (p-V2 = 663 µV) signals and wave amplitudes were obtained and recorded after full mobilization of the right lobe. The left lobe was also dissected and mobilized. The left RLN was identified at the usual anatomical position that was both fully exposed and preserved during thyroid surgery. Left V1, R1, R2, and V2 signals and amplitudes were also obtained and recorded. A total thyroidectomy was performed under the guidance of IONM. Both pre- and post-dissection stimulation showed functional integrity of the laryngeal nerves. The postoperative period was uneventful. Postoperative laryngoscopy confirmed normal vocal cord function. The patient was discharged on the second postoperative day. The histopathological diagnosis was follicular nodular disease. The patient is euthyroid with levothyroxine (LT4; 100 µg/day) replacement. | [[53.0, 'year']] | F | {'26832987': 1, '21306793': 1, '22955954': 1, '31057255': 1, '32384495': 1, '27861937': 1, '29119329': 1, '24387189': 1, '26330239': 1, '25042210': 1, '27819021': 1, '25142438': 1, '23269396': 1, '30042921': 2} | {} |
1,329 | 6054359-1 | 30,042,908 | comm/PMC006xxxxxx/PMC6054359.xml | Management of Persistent Hyponatremia Induced by Long-acting Injectable Risperidone Therapy | History and physical examination\nA 55-year-old Caucasian male presented to the emergency department with the complaint of fainting spells with associated dizziness that persisted for several days. The patient stated that he had no associated alleviating or aggravating factors and had a significant tobacco use history. The patient reported a significant medical history of chronic obstructive pulmonary disease (COPD), hyperlipidemia, congestive heart failure, and gastro-esophageal reflux disease (GERD). In addition, the patient reveals that he is receiving treatment for psychiatric disorders that include schizophrenia and anxiety disorder. His medications included pantoprazole 40 mg once daily, risperidone 50 mg of intramuscular injections every two weeks, atorvastatin 10 mg oral once daily, buspirone 10 mg oral twice daily, clopidogrel 75 mg oral once daily, metoprolol 25 mg oral once daily, and nifedipine 60 mg oral once daily. The patient denied any recent changes in medication or travel history. He denied any fever or chills, orthopnea, or paroxysmal nocturnal dyspnea (PND). In addition, he denied any recent weight changes, nausea, vomiting, diarrhea, melena, odynophagia or dysphagia, heartburn, or intravenous drug abuse. No other symptoms of arthritis, mouth sores or mouth ulcers, photosensitive rash, or redness or swellings in the small joints of the hands were reported.\nUpon physical examination, the patient seemed to be in no acute distress. He did appear slightly confused upon questioning, but was oriented in time, place, and person with no signs of focal neurological deficits. The functioning of all cranial nerves was intact. The patient appeared to be euvolemic at the time of examination and vital signs were within normal limits. Pulmonary examination revealed diffuse expiratory wheezes in both the anterior and posterior lung fields. The rest of the physical examination was unremarkable.\nHospital course\nLaboratory workup of the patient revealed a critically low serum sodium level of 114 mmol/L. His serum osmolarity was 212 mOsm/kg and urine osmolality was 320 mOsm/kg. His urine sodium level was 63 mmol/L and serum uric acid level was 2.3 mg/dL. Given the patient's low serum osmolarity, high urine osmolarity, and urine sodium level greater than 40 mmol/L, these findings directed the medical team towards the diagnosis of SIADH.\nA chest X-ray was taken to look for any abnormalities, given his bilateral wheezing on physical examination. The findings showed a right-sided lobar consolidation and a widened mediastinum, as shown in Figure . A noncontrast computed tomography (CT) scan of the chest was clear of any abnormal masses, as shown in Figure . He was treated with ceftriaxone and azithromycin for pneumonia and his breathing difficulty reduced, but his hyponatremia still persisted. There was a high suspicion that his long-acting risperidone had contributed to this hyponatremia as an adverse effect, as he had been on chronic injections of risperidone for years. The medical team decided to withdraw the patient’s risperidone. However, this did not change his serum sodium levels as it was still severely low. This was expected because long-acting risperidone has a half-life of about four to six days in the body []. Water withdrawal and hypertonic saline were also initiated, but his serum sodium levels persisted at levels less than 120 mmol/L. Some 30 mg of tolvaptan was then administrated. Following the administration of 30 mg of tolvaptan, the patient’s serum sodium levels improved over the course of two days and subsequently remained above 130 mmol/L. His serum sodium level was 133 mmol/L during his two-week and one-month outpatient follow-up. This is still below normal, but it is definitely an improvement compared to his initial sodium levels, and his signs of mental confusion were not present on follow-up. | [[55.0, 'year']] | M | {'17981159': 1, '14728058': 1, '15710053': 1, '23121377': 1, '9475627': 1, '20082537': 1, '22120090': 1, '17208069': 1, '30042908': 2} | {} |
1,330 | 6054362-1 | 30,042,910 | comm/PMC006xxxxxx/PMC6054362.xml | A Rare Pathology Mimicking the Gallstone: Heterotopic Pancreas in the Gallbladder | A 48-year-old female patient presented to the surgery clinic with complaints of three years of epigastric pain, which had increased for the last six months, and nausea after eating fatty foods. A complete blood count revealed a white blood count of 9550 cells/mm3 (4600–10200 cells/mm3) and a hematocrit level of 38% (40%–54% ). Her electrolytes, liver function tests, blood urea nitrogen, and creatinine were normal. A 7-mm polyp in the gallbladder was detected (Figure ) in the abdominal ultrasonography of the patient with a normal physical examination and no known disease. The patient underwent a laparoscopic cholecystectomy and was discharged on the first postoperative day, uneventfully. A pathologic examination of the specimen revealed an 8-mm polyp (Figure ), including mononuclear cell infiltration consistent with chronic cholecystitis, thickening in the gallbladder wall, fibrosis, and 6x4 mm heterotopic pancreatic tissue located in the submucosal area of the fundus (Figure ). No further complications occurred in the three-month follow-up of the patient. | [[48.0, 'year']] | F | {'21904070': 1, '12350037': 1, '9265676': 1, '10469405': 1, '27994347': 1, '17446856': 1, '21116430': 1, '22406610': 1, '17226916': 1, '33564313': 2, '18182740': 1, '16775679': 1, '23776830': 2, '19734631': 1, '21386642': 1, '15300920': 1, '23646318': 2, '23907949': 1, '30042910': 2} | {'6054362-2': 2, '3641372-1': 1, '3678697-1': 1, '7867455-1': 1} |
1,331 | 6054362-2 | 30,042,910 | comm/PMC006xxxxxx/PMC6054362.xml | A Rare Pathology Mimicking the Gallstone: Heterotopic Pancreas in the Gallbladder | A 39-year-old male patient presented to the surgery clinic with a one-year history of right upper quadrant pain. The complete blood count revealed a white blood count of 7200 cells/mm3 (4600–10200 cells/mm3) and a hematocrit level of 45% (40%–54% ). His electrolytes, liver function tests, blood urea nitrogen, and creatinine were normal. A 6-mm polyp and sludge were detected within the gallbladder in the abdominal ultrasonography of the patient (Figure ) with a normal physical examination and no known disease. The patient underwent laparoscopic cholecystectomy and was discharged on the first postoperative day uneventfully. A pathologic examination revealed sludge, mononuclear cell infiltration consistent with chronic cholecystitis, thickening in the gallbladder wall, fibrosis, and 7-mm heterotopic pancreatic tissue in the gallbladder corpus (Figure ). No further complications occurred in the three-month follow-up of the patient. | [[39.0, 'year']] | M | {'21904070': 1, '12350037': 1, '9265676': 1, '10469405': 1, '27994347': 1, '17446856': 1, '21116430': 1, '22406610': 1, '17226916': 1, '33564313': 2, '18182740': 1, '16775679': 1, '23776830': 2, '19734631': 1, '21386642': 1, '15300920': 1, '23646318': 2, '23907949': 1, '30042910': 2} | {'6054362-1': 2, '3641372-1': 1, '3678697-1': 1, '7867455-1': 1} |
1,332 | 6054363-1 | 30,042,913 | comm/PMC006xxxxxx/PMC6054363.xml | Resolution of Sleepwalking Behavior after Initiation of Sodium Oxybate in a Patient with Narcolepsy Type 2 | A 44-year-old male veteran was seen in follow-up of long-standing daytime sleepiness, characterized by sudden onsets of sleep, even while standing up, and lost time of up to 30 minutes. He denied cataplexy, hypnogogic hallucinations, or sleep paralysis. Initial evaluation was performed in another state in 1993; the report from the sleep studies done at that time indicated “32 awakenings, 2 apnea/hypopnea spells, mean sleep onset 5.9 min x 5 naps (no sleep on one nap), observed to enter REM sleep in at least two naps and possible four of five naps.”\nHe relocated and subsequently presented for re-evaluation to our sleep disorders center in 2004, with persistent complaints of excessive daytime sleepiness, not on specific treatment. He also reported ongoing sleepwalking episodes: some episodes involved walking on the roof of a chemical plant where he was working or smoking a cigarette on his front porch. An overnight polysomnogram (PSG) and MSLT were repeated. There was no significant sleep-disordered breathing, or abnormal increase in muscle tone or unusual activity during REM or non-REM sleep. During the MSLT, sleep occurred on all four nap opportunities, the mean sleep latency was 10 minutes and there were no sleep onset REM periods. Initial treatments included stimulant medications and extension of the nocturnal sleep period. Methylphenidate at 20 mg per day was ineffective in maintaining wakefulness; doses up to 60 mg per day resulted in unacceptable irritability and anger. A trial of modafinil was not tolerated due to adverse gastrointestinal effects.\nA repeat PSG (Figure ) and MSLT (Figure ) were performed in 2008. On this occasion, the PSG showed excellent sleep efficiency (96.5%), normal REM latency (93.5 minutes), REM sleep comprised 16.8% of the total sleep time, and slow wave sleep and periodic limb movements of sleep were absent. Mild obstructive sleep apnea was present, with an apnea-hypopnea index of 9.1 events per hour of sleep and low oxygen saturation of 89%. During the subsequent MSLT, sleep occurred on all five nap opportunities, the mean sleep latency was 2.6 minutes, and REM sleep occurred on naps two and three.\nThe patient did not tolerate a trial of continuous positive airway pressure (CPAP) due to nasal obstruction from a prior nasal fracture. He again did not tolerate effective doses of traditional stimulant medications. For treatment of narcolepsy without cataplexy, sodium oxybate was initiated, 2.25 grams at bedtime and repeated four hours later, in addition to methylphenidate at 20 mg per day. On follow-up, the patient reported consolidated sleep, vivid dreams, and improved daytime sleepiness; he additionally reported a substantial decrease in the frequency of sleepwalking episodes and no related injuries. | [[44.0, 'year']] | M | {'11833860': 1, '23415568': 1, '21206549': 1, '28366329': 1, '19010351': 1, '17310860': 1, '21261767': 1, '9456462': 1, '30042913': 2} | {} |
1,333 | 6054365-1 | 30,042,915 | comm/PMC006xxxxxx/PMC6054365.xml | A Case Report on Refractory Moschcowitz Syndrome | A 44-year-old female with no significant past medical history presented in the emergency department with complaints of fatigue, hematuria and nausea for two days. She had also noticed bruises present on her arms. On examination, she was hemodynamically stable. Blood workup showed hemoglobin of 9.9 grams per deciliter (g/dl), platelet count of 8000 per cubic millimeter (mm3), creatinine of 2.4 milligram per deciliter (mg/dl) and normal coagulation profile. Total bilirubin was 2.9 milligram per deciliter (mg/dl) with indirect bilirubin of 2.3 milligram per deciliter (mg/dl), Lactate dehydrogenase (LDH) of 1131 units per liter (IU/L) and haptoglobin of less than 10 milligram per deciliter (mg/dl). Urinalysis revealed proteinuria and hematuria along with granular casts. Due to complaints of chest discomfort, troponin levels were done which were found to be elevated at 1.43 nanogram per milliliter (ng/ml) although electrocardiogram (ECG) did not show any abnormalities. Meanwhile, peripheral smear demonstrated red cell fragmentation and schistocytes. As the laboratory values were indicative of a microangiopathic disorder, the patient was transferred to intensive care unit while ADAMTS-13 (A Disintegrin And Metalloprotease with ThromboSpondin type 1 motif-member 13) activity assays were requested. A central line was inserted and plasmapheresis was initiated along with intravenous corticosteroids. However, patient's condition deteriorated the next day and intubation was performed due to depressed mental level and hypotension. Blood workup showed platelet count of 2000 per cubic millimeter (mm3), Aspartate aminotransferase 1672 units per liter (IU/L), Alanine aminotransferase 1163 units per liter (IU/L), Lactic acid of 22.8 millimole per liter (mmol/L) and creatinine of 4.1 milligram per deciliter (mg/dl) with decline in urine output. Computed tomography (CT) head showed acute bilateral infarcts involving the basal ganglia (Figure ).\nAt this time, the results of ADAMTS-13 assay depicted activity level of <5% with inhibitor levels >60% thus confirming acquired TTP. Hematology team decided to initiate Rituximab therapy in addition to plasmapheresis and corticosteroids due to initial inadequate response. Meanwhile, nephrology was consulted who advised to start CRRT (Continuous renal replacement therapy) for the progressive renal insufficiency. In view of rising troponin levels 1.43 to 3.6 nanogram per milliliter (ng/ml) and reduced ejection fraction of 45% plus global hypokinesia as seen on echocardiogram, she was suspected to have cardiogenic shock which was treated with vasopressors.\nAfter being aggressively treated, the patient started showing clinical improvement by day five as evident by increasing platelet count of 48000 per cubic millimeter (mm3) and minimal vasopressor requirement. She was taken off vasopressors on day seven of admission and successfully extubated. As she continued to be hemodynamically stable, she was shifted to hemodialysis which was later on stopped due to adequate urine output and stable renal parameters. During 25 days of hospital stay, she received total four doses of Rituximab and 15 cycles of plasmapheresis before being discharged to a sub-acute rehab facility while on a steroid taper. Laboratory values at the time of discharge showed platelet count of 112,000 per cubic millimeter (mm3), creatinine of 1.7 milligram per deciliter (mg/dl) and ADAMTS-13 activity of 116%. | [[44.0, 'year']] | F | {'9828245': 1, '16672704': 1, '24360024': 1, '12588343': 1, '25988072': 2, '23213646': 1, '12033285': 1, '26418759': 1, '30042915': 2} | {'4370012-1': 1} |
1,334 | 6054366-1 | 30,042,909 | comm/PMC006xxxxxx/PMC6054366.xml | Energy Drinks and Myocardial Infarction | An otherwise healthy 25-year-old man presented to the emergency department with a substernal chest pain for an hour accompanied by shortness of breath, nausea, and vomiting. The chest pain was sudden in onset, 8/10 in intensity, and radiating to his right arm. The chest pain was slightly relieved on lying flat and aggravated by walking. He had no associated symptoms such as fever, cough, runny nose, or rash. He did not have any antecedent infection.\nPatient’s past medical, surgical and family history was unremarkable, and he had no modifiable or non-modifiable cardiovascular risk factors. He had no known allergic reaction to food or drugs. He was a nonsmoker and did not use any illicit drugs. A comprehensive history revealed a daily intake of seven to nine cans of caffeinated energy drinks for the past week. The patient reported significant improvement in his chest pain after receiving sublingual nitroglycerin and diamorphine intravenously.\nHis vital signs on examination were (1) Temperature: afebrile, (2) Blood Pressure: 155/95 mmHg in his right arm and 150/90 mm Hg in his left arm, (3) Respiratory Rate: 25 breaths/min, d-Heart Rate: 110 beats/min. Pulse oximetry showed 98% oxygen saturation on room air. Cardiac examination revealed S4 on auscultation of the chest. On palpation of the chest, there was no point tenderness. Rest of the systemic examination was unremarkable.\nThe initial electrocardiogram (EKG) on admission (Figure 1) showed sinus rhythm with ST depression in precordial leads V2-V6. Chest X-ray was insignificant with no signs of pulmonary congestion. Laboratory findings were as follow: (1) an elevated level, 32.22 µg/ml, of 12-h troponin I (normal range <0.07); confirming definite acute coronary syndrome. (2) d-Dimers were 380 ng/ml (normal range <500). (3) Thrombophilia and drug screen were negative. After appropriate initial resuscitation for the coronary syndrome, the patient was transferred to the catheterization laboratory for the percutaneous coronary intervention.\nCoronary angiography showed normal coronary arteries. Transthoracic echocardiography (TTE) showed ejection fraction of 60% with left ventricular diameters within normal limits. The patient was discharged after five-day observation period and was counseled to limit/stop the ingestion of energy drinks. He was discharged with aspirin, spironolactone, perindopril, and atenolol.\nOn the post-hospital follow-up visit, the patient had completely stopped consuming energy drinks and was symptom-free. TEE at this visit revealed ejection fraction of 62% with preserved global left ventricular function. | [[25.0, 'year']] | M | {'18595815': 1, '20103032': 1, '21037046': 1, '8998103': 1, '18809264': 1, '22426157': 1, '34277730': 1, '33450301': 1, '22730801': 1, '19120009': 1, '34444666': 1, '30042909': 2} | {} |
1,335 | 6054367-1 | 30,042,906 | comm/PMC006xxxxxx/PMC6054367.xml | Histopathological Findings in an Unclassifiable Case of Empty Nose Syndrome with Long-term Follow-up | Herein we report the findings in a 50-year-old male. The patient presented with chronic right-sided headache, foul discharge and complaints of a stuffed nose in 2011. Previous medical history included maxillary osteomyelitis in 2009 with multiple interventions resulting in a complex mediofacial resection, with a subtotal defect of the hard plate, maxillary sinus, and nasal septum. Concomitant diseases included depression and type two diabetes mellitus on peroral therapy.\nA nasal endoscopy and computed tomography (CT) showed a huge pathologic cavity resulting from communication between the oral cavity, right maxillary sinus, and nasal cavity, with a minor communication with the right orbit (Figures -).\nDue to the past medical history and the severity of the case biopsy specimens were obtained under general anesthesia. The tissues were fixated in 10% buffered formaldehyde solution and later embedded in paraffin (FFPE) for staining with hematoxylin and eosin (H&E) and Azan.\nThe sections showed severe but unspecific changes of the nasal epithelium with areas of minimal remaining preserved respiratory epithelium (Figure ). These changes included zones of reserve cell hyperplasia, epithelial erosions, and ulcers, squamous cell metaplasia with acanthosis and zones of abundant keratinization (Figure ). Evident unspecific changes were also present in the submucosa with squamous cell metaplasia of the submucosal glands in some cases leading to complete replacement of the glandular epithelia and resulting in submucosal squamous cell nests, without signs of cellular atypia (Figure ). The interstitium was also severely affected by abundant zones of granulation tissue, fibrosis, and signs of chronic inflammatory infiltrate with lymphocytes and plasma cells, however giant cells were absent (Figure ). The adjacent bones showed no signs of active inflammation.\nBased on the clinical data and the endoscopic, radiologic and histomorphologic data, despite the case is not applicable to the current classification of ENS, the diagnosis of ENS was accepted based on the combined extensive but unspecific findings. Due to the current classification criteria, however, the case was concluded to be ENS not elsewhere classified (NEC) as the currently used classification does not include such an entity.\nThe patient was discharged following training for self-lavage of the neocavity, due to refusal for obturator placement to compartmentalize the neocavity and restore physiological relation of its sections. A seven-year follow-up period included multiple hospital admissions for monitoring of the condition and extensive sinus lavage. No advancement was noticed on endoscopy and CT. No further histological evaluations were performed due to the steady clinical course and lack of evidence for malignant transformation of the now squamous epithelial lining of the neocavity. | [[50.0, 'year']] | M | {'19328896': 1, '24978195': 1, '20878413': 1, '19328895': 1, '25430954': 1, '22513047': 1, '30042906': 2} | {} |
1,336 | 6054368-1 | 30,042,918 | comm/PMC006xxxxxx/PMC6054368.xml | Temporal Arteritis Presenting as an Isolated Bilateral Abducens Nerve Palsy: A Rare Case of a 65-year-old Male | A 65-year-old right-handed Caucasian male presented with recurrent episodes of diplopia. Prior two episodes were brief and self-resolving; however, the current episode started two months ago and progressively worsened. He started perceiving objects brighter in the right eye. He also reported malaise, shoulder pain bilaterally, and approximately 15 lbs weight loss in the last few months. Exam showed bilateral CN VI palsy (right more than left) without any other focal neurological finding. Myasthenia gravis was earlier suspected and was ruled out clinically by negative blood tests and electromyography. Endocrine workup including thyroid panel was unremarkable. Computerized tomography (CT) angiogram of the head and neck did not show any flow limiting vessel stenosis. Magnetic resonance imaging (MRI) of the brain did not show any diffusion restriction. Cerebrospinal fluid (CSF) analysis for infectious and inflammatory processes and serum autoimmune workup was negative. Occult malignancy was excluded by a whole body CT. Erythrocyte sedimentation rate (ESR) and c reactive protein (CRP) was remarkably elevated. Due to concerns of generalized malaise, weight loss, and elevated inflammatory markers in an elderly individual; TA was considered. A patient was empirically started on 1 g IV methylprednisolone (solumedrol) for three days followed by a gradual taper while waiting for the temporal artery biopsy results. Temporal artery biopsy showed necrotizing pan-arteritis consistent with GCA (Figure ). The patient was discharged on 60 mg prednisolone. At one and two-month follow-up, the patient had improvement in diplopia and steroids were tapered off. | [[65.0, 'year']] | M | {'2266315': 1, '15665362': 1, '3599012': 1, '8670331': 1, '184766': 1, '12190776': 1, '16854506': 1, '3397655': 1, '7713213': 1, '9735061': 1, '2817676': 1, '16286553': 1, '20512338': 1, '17710891': 1, '18640460': 1, '7880191': 1, '25194431': 1, '18052956': 1, '2942576': 1, '7598301': 1, '30042918': 2} | {} |
1,337 | 6054369-1 | 30,042,919 | comm/PMC006xxxxxx/PMC6054369.xml | Myelopathy from Intradural Extramedullary Metastasis as an Initial Presentation of Metastatic Melanoma | A 63-year-old morbidly obese male presented with a three-month course of progressively worsening symptoms of neck pain, inability to walk, and numbness and weakness in the distal upper extremities. Neurological examination demonstrated 4/5 strength in the triceps and hand intrinsics, 2/5 in the iliopsoas, and nondermatomal distal upper extremity sensory loss with an upper thoracic pin level. Deep tendon reflexes were diminished, but Babinski and Hoffmann signs were bilaterally present. Later in the hospital stay, a subtle left-sided visual field deficit was appreciated.\nMagnetic resonance (MR) imaging revealed an enhancing IDEM 1.5 cm × 1.0 cm mass at C2 causing severe cord compression. A similar lesion was noted at the C7 level (Figure ). Subsequent MR of the remainder of the neuroaxis revealed a 3 cm right-sided posterior temporal lobe mass with small hemorrhagic foci and surrounding edema and matting of the roots of the cauda equina (Figure ).\nA systemic work-up revealed a scalp lesion over the right ear which was subsequently shown on biopsy to be a melanoma, but without any visceral metastasis.\nThe patient underwent resection of the C1/C2 and C7/T1 spinal masses during the same procedure. The lesions were rubbery, tan, and hemorrhagic; and they were readily separable from the neural elements and dura. Pathology confirmed a diagnosis of melanoma (Figure ). A fusion was also performed at the C6-T1 laminectomy site to prevent postoperative deformity. Two weeks later, the patient underwent craniotomy for resection of the temporal lobe lesion. The patient tolerated the procedures well and had a mild improvement in motor and sensory functions but not sufficiently enough to become ambulatory. At six months follow-up, the patient had sustained improvement in neurological function, but had developed visceral metastatic disease. | [[63.0, 'year']] | M | {'7207769': 1, '7077385': 1, '10599812': 1, '635178': 1, '15254054': 1, '31632701': 1, '28114258': 1, '22245271': 1, '3258107': 1, '8755750': 1, '25983836': 2, '20960525': 1, '30042919': 2} | {'4431023-1': 1} |
1,338 | 6054370-1 | 30,042,916 | comm/PMC006xxxxxx/PMC6054370.xml | Intraventricular Anaplastic Pleomorphic Xanthoastrocytoma: Very Rare Localization and Early Recurrence of a Rare Tumor | Preoperative evaluation\nA 65-year-old female, who had been previously healthy, presented to the emergency department at our institution with a six-month history of memory impairment, urinary incontinence, and ataxia. On physical examination, she was alert and oriented, but with difficulty remembering recent and past events. Her cranial nerves were intact, and she demonstrated a normal motor and sensory examination. She had no history or clinical findings of tuberous sclerosis. Contrasted magnetic resonance imaging (MRI) of the brain demonstrated a 4.9 X 3.0 cm heterogeneously enhancing intraventricular mass, centered on the septum pellucidum and extending into the lateral ventricles, with associated obstructive hydrocephalus (Figures -).\nOperation and postoperative course\nThe patient was then taken electively to the operating room for the resection of the intraventricular ventricular mass via a left frontal craniotomy, with a corticectomy through the middle frontal gyrus. Once the ependymal layer of the left lateral ventricle was opened, a grayish slightly vascularized mass was found. An interface between the ventricle and the tumor was developed and a dissection plane was created between the anterior portion of the tumor, which was located underneath the corpus callosum, and the medial component centered on the septum pellucidum. Postoperatively, the patient experienced a transient mutism, which began to resolve a few weeks after the operation. A gross total resection was achieved (Figures -) and a ventriculoperitoneal shunt was placed due to the presence of a continued postoperative hydrocephalus. Upon confirmation of the pathological diagnosis of anaplastic pleomorphic xanthoastrocytomas (at the time of the surgery, pleomorphic xanthoastrocytoma “with anaplastic features”), adjuvant radiotherapy was considered but, in light of the transient mutism, postponed. Three months later, the patient experienced an episode of confusion with worsening gait instability. Repeated imaging revealed the recurrence of the tumor now involving the lateral and third ventricles (Figure ). Due to the extent of the disease, the patient’s clinical condition and her wishes against pursuing the further invasive or adjuvant treatments, conservative and supportive management only were followed.\nHistopathological and immunohistochemical examination\nFormalin-fixed paraffin-embedded histologic sections stained with hematoxylin and eosin disclosed a moderately cellular neuropil-forming tumor with cells arranged in fascicles or sheets. Neoplastic cells displayed abundant pink cytoplasm and many had enlarged multilobed or bizarrely-shaped nuclei with frequent cytoplasmic pseudo-inclusions. Xanthomatous change was not conspicuous in neoplastic cells and eosinophilic granular bodies (EGBs) were prominent in the background. Lymphocytes were scattered among tumor cells and around blood vessels. Mitoses were absent. Blood vessels showed prominent congestion without cellular proliferation or glomeruloid formations. There were several foci of necrosis characterized by smudged granular pink debris containing karyorrhectic fragments. A few of these necrotic zones were surrounded by radially oriented spindled tumor cells, imparting a pseudopalisaded appearance. Reticulin stain showed the focal reticulin investment of individual tumor cells and small tumor nests (Figures -). Calcification was not detected microscopically. Immuno-histochemical staining demonstrated that tumor cells were strongly and diffusely positive for glial fibrillary acidic protein (GFAP) and focally positive for CD34. Tumor cells did not mark with a synaptophysin immunostain. Ki-67 immunostain yielded a proliferation index of 2%. Immunostain for p53 disclosed positivity in 33% of neoplastic nuclei (Figures -).\nNuclear pleomorphism, abundant EGBs, the absence of mitoses and vascular proliferation, reticulin investment of tumor cells, and GFAP and CD34 immunopositivity with a low proliferation index were morphologic features leading to the classification of this tumor as PXA. The recognition of the microscopic foci of necrosis resulted in a final diagnosis of APXA, a diagnosis to which the WHO grading system for CNS tumors now assigns a grade III.\nIn an adult astrocytic tumor with exaggerated nuclear pleomorphism, one is more likely to see tumor necrosis and significant p53 immunopositivity in giant cell glioblastoma than in PXA. The investment of tumor cells by reticulin and perivascular lymphocytic infiltrates have also been observed in giant cell glioblastoma. The absence of mitoses and vascular proliferation and the abundance of EGBs caused us to favor a variant of PXA rather than a glioblastoma subtype. | [[65.0, 'year']] | F | {'9888706': 1, '12946225': 1, '16498222': 1, '15455217': 1, '17537486': 1, '19164434': 1, '18184267': 1, '12234421': 1, '33543147': 2, '12762893': 1, '16850961': 1, '10223246': 1, '30534452': 2, '15608490': 1, '21274720': 1, '15912255': 1, '8113873': 1, '6194876': 1, '20051018': 1, '11465399': 1, '498051': 1, '30042916': 2} | {'7849951-1': 1, '7849951-2': 1, '7849951-3': 1, '6252228-1': 1} |
1,339 | 6054728-1 | 30,029,642 | comm/PMC006xxxxxx/PMC6054728.xml | Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome | The proband is a 19-year-old male born from non-consanguineous parents of Caucasian origin, after a normal pregnancy at 40 weeks of gestation with normal birth measurements (weight 4150 kg, length 52 cm, and cranial circumference 36 cm). Both parents and the 18- year-old brother are healthy (Fig. ).\nNystagmus, convergent strabismus, and mild lower spasticity appeared at 7 months of age as the first symptoms of the disease, and subsequently, developmental psychomotor regression was observed. In particular, the child at 14 months lost the ability to walk alone, presenting ataxic signs, and at 16 months chorea of the arms and dystonia of the trunk appeared.\nWe performed the first MRI showing the typical pattern of Leigh Syndrome with the presence of bilaterally hyperintense signals in the basal ganglia and thalami and of periventricular white matter (Fig. ); proton magnetic resonance spectroscopy (1H MRS) showed a lactate peak at 1.33 ppm.\nThe metabolic pattern was characterized by increased levels of plasma lactate, alanine, and valine and reduced levels of citrulline; an increase in 3 methylglutaconic acid was observed in urinary organic acids. Electroencephalogram (EEG) did not show epileptic discharges. A muscle biopsy performed at 18 months showed signs of a mild myopathic process with non-specific abnormalities of oxidative reactions. Respiratory chain activities revealed a slight reduction of complexes II and III.\nAt 26 months the child presented a dyskinetic tetraparesis associated with hyposthenia of the trunk and limbs. No cardiac, endocrine, gastrointestinal nor renal involvement was observed. The Griffiths scale, which examines the cognitive profile, showed a moderate intellectual disability. The clinical condition remained stable up to 9 years of life, when he presented drug resistance and generalized tonic clonic and myoclonic seizures. Spastic tetraparesis worsened and neurological changes, such as dysarthria/dysphagia, loss of eye contact, and axial and limb dystonia were occurring during acute viral infections. Cognitive deterioration was progressively evident in association with a regression of language skills.\nIn order to treat the severe spasticity and associated dystonia, an intratecal baclofen pump was implanted, and at 10 years the child was continuously fed by parenteral gastrostomy (PEG). During this period, he also presented constant rhythmic jerky movements of the right arm and of the soft palate, which were indicative of palatal myoclonus status. EEG recording over time showed recurrent focal seizures clinically associated with motor manifestations and during palatal myoclonus, suggesting an ongoing non-convulsive status epilepticus, treated with carbamazepine and benzodiazepine in combination with phenytoin, already administered. No adverse effects were observed, and remission of the seizures was completely obtained; subsequently, phenytoin was gradually reduced and stopped.\nAt 11 years and 8 months of age, the spastic tetraparesis associated with dystonic movement disorders was complicated by severe scoliosis. The boy also presented a severe intellectual disability, an epileptic encephalopathy, and cerebral visual impairment. Bilateral optic atrophy and sensorineuronal deafness were discovered at 13 years: flash visual evoked potential was not identifiable, whereas brainstem acoustic evoked potential was altered with pons and mesencephalon wave involvement. At around 12 years of age, a second MRI was performed, which showed marked progression of basal ganglia involvement with enlargement of lateral and third ventricles, evident signs of global cerebral atrophy (Fig. ). A mild double peak of lactate was evident on 1H MRS. A new analysis of muscle tissue and oxidative-phosphorylation enzymes was performed at the age of 13 years, and despite the severe clinical picture, only mild changes in the reduction of complexes II and III were confirmed. Over the course of the disease, limb spasticity with stable elbow and knee contractures were evident, but dystonic movements diminished, and no spontaneous movements were visible. Cardiac and renal function remained unchanged. Constipation was observed.\nA tracheostomy was performed at 17 years when he had a bronchopneumonic infection, and his respiratory condition worsened. At 19 years, the patient showed a persistent vegetative state with partial symptomatic drug-resistant epilepsy, pendular nystagmus as seen in blind patients, spastic tetraparesis with hip dislocation, valgus pronatus deformation of the feet, severe scoliosis, and stable flexion of the right arms.\nWES analysis was performed on the proband and the asymptomatic father’s and mother’s DNA. After filtering criteria (described in detail in Additional file ) were applied, only four missense mutations were left. None of the missense variants were exclusive of the affected individual (Table ) except one in the ECHS1 gene: the c.713C > T/p.Ala238Val mutation was present in the proband in an apparent homozygous state, whereas the father was found to be heterozygous. This mutation, present in the ExAC Browser (/; MAF = 0.000016), is predictably damaging when examined in silico using Polyphen2 and has already been reported in the compound heterozygous form in a family presenting with LS [].\nManual inspection of bam files by Integrative Genome Viewer (IGV) as well as Sanger sequencing of the flanking region revealed the lack of this mutation in the mother (Fig. ). To further investigate the chromosomal region containing ECHS1, we used CeQer, a software program able to detect copy number variation from exome data. We detected a deletion in an extended region of chromosome 10 (from 135,120,573 to 135,187,238) involving five genes: ZNF511, CALY, PRAP1, FUOM, and ECHS1. This deletion was present in the proband and in his mother but not in the father (Additional file : Figure S1).\nThe array CGH identified in the proband a microdeletion of at least 35 kb in 10q26.3 (Additional file : Figure S2). This deletion was also detected in the mother. The maternal grandmother was negative; therefore, it is likely that this deletion was inherited from the grandfather (sample not available). In order to confirm whether the deletion led to a loss of copy number of the five included genes, a real-time PCR assay was performed. The results showed that the patient and his mother had a decreased copy number in all genes compared with that of the father (Fig. ). The Additional file describes all the methods used in this paper and the additional file figures not shown in the text. | [[19.0, 'year']] | M | {'25197272': 1, '26506407': 1, '33112498': 1, '24299452': 1, '21280146': 1, '32642440': 1, '18805359': 1, '25125611': 1, '25419155': 1, '32329585': 1, '26081110': 2, '26725255': 1, '24731534': 1, '16372356': 1, '34627336': 1, '26099313': 1, '20011588': 1, '26000322': 1, '33931985': 1, '21749722': 2, '25393721': 1, '30029642': 2} | {'3148968-1': 1, '4474341-1': 1, '4474341-2': 1} |
1,340 | 6054734-1 | 30,029,636 | comm/PMC006xxxxxx/PMC6054734.xml | A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report | An 8-month-old Iranian male infant, a product of consanguineous marriage, was admitted to our center with history of persistent thrombocytopenia from birth, sepsis, and recurrent gastrointestinal bleeding. In family history, the proband had a sibling who died with similar phenotypes. Initial laboratory findings at different ages were suggestive of idiopathic thrombocytopenic purpura (ITP) (Table ), therefore; intravenous immunoglobulin (IVIG) was administered for him. At the age of 1 month, he showed mild skin thickening and bone marrow aspiration revealed moderate hypo-cellular marrow with decreased megakaryocyte. However, TORCH study, rheumatologic work up, and levels of complement components such as C3, C4, and CH50 were in normal range. At the age of 4 months, he had increased levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) and decreased levels of hemoglobin (Hb) and mean platelet volume (MPV), indicating thrombocytopenia. Therefore, IVIG and platelet were administered for the patient.\nBased on the patient history and clinical and laboratory findings described above, WAS disease was clinically suspected; therefore, we performed immunological assays. For instance, flow-cytometry showed normal results but the level of antibodies for IgG, IgA, and IgE was high (IgM was in normal range) (Table ). At that time, to control the sepsis, broad spectrum of antibiotics (Vancomycin and Meropenem) were administered for the patient. At the age of 8 months, the patient had poor feeding, abdominal distension, and lower gastrointestinal bleeding. At that time, the patient was febrile and he was in respiratory distress. Generalized skin petechia and perianal skin tag were also detected. Due to rectal bleeding, endoscopy and sigmoidoscopy were also performed and results revealed severe erythema, erosion, and nodularity in antrum of stomach and nodularity and erythema in the bulb of esophagus. In sigmoidoscopy, skin tag, fistula, fissure in the perianal area, severe and diffused ulcer, and polypoid lesion and decreased vascularity in rectum were detected (Fig. ). Colon and rectum biopsy showed chronic colitis with severe activity in favor of inflammatory bowel disease (Fig. ). Histological examination of biopsies from the patient also revealed cryptitis and crypt abscesses (Fig. ). Since there was no an infectious etiology, these observations were in support of chronic colitis and/or IBD. To find the genetic cause of the disease in our patient, we performed Next Generation Sequencing (NGS) technique to sequence all exons of protein-coding genes.\nWhole Exome Sequencing (WES) using Illumina NextSeq500 for pair-end 150-nucleotide sequencing was performed on DNA sample from proband. The NGS results were analyzed using bioinformatics tools, including BWA aligner [], GATK [], Annovar [], and open access bioinformatics tools. Totally, more than 120 K annotated variants were identified with hetero/homo ratio of 1.6 to 1.8, which were then filtered based on their frequency, position, functional consequences, pattern of inheritance and mainly clinical phenotype. NGS data of the proband, revealed a novel, private, hemizygous splice site mutation (NM_000377:exon3:c.360 + 1G > C, Chromosome X) in WAS gene. This identified mutation was not reported previously, therefore, is categorized as the variant of unknown significance (VUS). However, due to lack of any other mutation that can explain the phenotype in this patient, almost complete phenotypic correlation between the disease and identified mutation, and disrupting nature of splice-site mutations, we believe this is a pathogenic mutation. We will deposit into the Clinar database (submission number: SUB3969419). Additionally, as the mutation has no reported frequency in our database (Bayangene) or any other available public variant databases, it was considered as a private mutation.\nTo confirm the identified novel mutation, genomic DNA was prepared from whole blood samples of family members of the proband by QIAamp DNA Blood Mini Kit (Qiagen, Germany) according to the company’s protocol. Then, PCR was carried out for the proband and his parents using following primers: FWAS-E3: GCTCCCAAATCCAGACAC and RWAS-E3: CTTGCACTAGAGGACTCAC (PCR product: 561 bp) for amplification of exon 3 of WAS gene. After that, Sanger sequencing was performed for PCR products on 3130XL Genetic Analyzer (Applied Biosystems USA) according to ABI BigDye Terminator Cycle Sequencing Kit (Applied Biosystems, USA). Sanger sequencing results were analyzed with the use of NCBI BLAST and CodonCode Aligner software in which it confirmed hemizygous status in proband, heterozygous in his mother and normal in his father (Fig. ). Different bioinformatics software and websites were also used to identify the features and the consequences of mutation in the given position of the protein and also to provide the family pedigree, including Human Splicing Finder (HSF, ), STRING (functional protein association networks, ), and Pedigree Chart Designer from CeGat (). Following evidences can confirm that this mutation is led to WAS: 1- WES detected only this mutation to be linked with observed clinical and laboratory findings suggestive of WAS in the proband. 2- Sanger data given in Fig. , confirmed the presence of the mutation in the proband as hemizygous, his mother as heterozygous, and his father as normal, confirming the X-linked segregation of the disease. 3- Mutation is located within the donor splice site which is expected to be highly damaging since another mutation in this nucleotide (c.360 + 1G > T, with ID number of CS972885 and CS961711in HGMD) could affect splice site. 4- Using HSF tool, it predicted that the wild type (WT) splice site will be broken and alteration of the WT donor site, most probably affects splicing. 5- Exon 3 is within WH1 domain which is important for binding to a Pro-rich ligand; therefore, skipping of this exon can be very damaging and most probably cause the sever form of the disease [].\nIn our study we also used STRING tool to predict the association network between WAS protein and other proteins. Its results revealed that WASp has interaction with several main proteins involved in different biological pathways and cellular component. | [[8.0, 'month']] | M | {'7795648': 1, '8643625': 1, '3749445': 1, '17065640': 1, '11133739': 1, '15383456': 1, '10779443': 1, '20601685': 1, '10358777': 1, '8069912': 1, '25177856': 1, '7579347': 1, '8931701': 1, '19451168': 1, '32810968': 1, '15774550': 1, '20644199': 1, '10551801': 1, '23527602': 1, '17890224': 1, '30029636': 2} | {} |
1,341 | 6054848-1 | 30,031,381 | comm/PMC006xxxxxx/PMC6054848.xml | Face-to-face intubation using a lightwand in a patient with severe thoracolumbar kyphosis: a case report | A 65-year-old male, 155 cm tall and weighing 53 kg, was scheduled to undergo mesh cage insertion and posterior spinal fusion from T6 to L5 for severe kyphosis due to spinal tuberculosis. Preoperative chest radiography revealed severe kyphosis of the thoracolumbar spine; however, there was no active lesion in the lungs. Thoracolumbar magnetic resonance imaging and computed tomography revealed spinal fusion at the level of T9–L3, with volume decrease and deformity associated with severe kyphosis. The kyphotic angle was approximately 115 degrees (Fig. ). Preoperative pulmonary function tests revealed a mild restrictive pattern with a forced vital capacity (FVC) of 1.81 L (63% of normal), a forced expiratory volume in 1 s (FEV1) of 1.53 L (73% of normal), and an FEV1/FVC ratio of 85%. Preoperative electrocardiography revealed normal sinus rhythm. In the preoperative visit, the patient exhibited limited neck motion because of severe kyphosis; he was Mallampati class III.\nIn the operating room, the patient was monitored using three-lead electrocardiography, pulse oximetry, non-invasive blood pressure monitoring, and bispectral index. Due to inability to lie on his back without any supportive devices, the head of the operating bed was raised approximately 30–40 degrees, and anesthesia was induced in the semi-recumbent position. Anesthesia was induced using a target-controlled infusion of propofol (Schnider model) and remifentanil (Minto model); rocuronium bromide 0.6 mg/kg was administered to facilitate tracheal intubation. Before tracheal intubation, preoxygenation was performed for 5 to 10 min with 100% oxygen in a face-to-face approach, with bimanual mask holding and mechanical ventilation. Although the awake intubation technique may be considered in cases of anticipated difficult intubation, the cause of difficult intubation in the present case was attributed to a kyphotic change, and not the airway itself, such as an anteriorly deviated glottis or soft tissue swelling; therefore, the authors believed that the patient’s airway could be adequately maintained using bimanual mask-holding in a face-to-face position. Initially, direct laryngoscopy and video laryngoscopy were attempted; however, it was exceedingly difficult to visualize the vocal cords because of the patient’s semi-recumbent position, his short stature, and the relatively large bed size. Moreover, a conventional lightwand technique from the head end of the patient was also difficult to perform. Although fiberoptic bronchoscopy can be considered as a first choice, it was temporarily unavailable because of an insufficient number of devices and well-trained staff. As the conventional overhead approach using laryngoscopy or lightwand was difficult, an alternative face-to-face approach using a lightwand was attempted. After all lights in the operating room were turned off, the anesthetist opened the patient’s mouth while facing him, and slowly inserted the tracheal tube-launched lightwand, of which the tip was bent at an angle of 90 degrees along the base of the tongue in the midline. The bright red light at the tip of the stylet was transilluminated and positioned at the center of the neck; subsequently, the tracheal tube was gently inserted at the location of light on the neck. (Fig. ). Face-to-face lightwand intubation was successful on the first attempt, and no specific complications, such as hemodynamic instabilities, intraoral traumas, or others, were encountered. After tracheal intubation, invasive arterial blood pressure was monitored through a cannula placed in the left radial artery using a hemodynamic monitoring device (EV1000 clinical platform, Edward Lifesciences Corp., Irwin, CA, USA). The surgery lasted approximately 7 h, during which vital signs were adequately maintained. After completion of surgery, neuromuscular blockade was reversed using sugammadex 200 mg followed by extubation in the operation room. Adequacy of respiration was confirmed, and the patient was transferred to the intensive care unit with continued monitoring. Although there was no postoperative sore throat or hoarseness of voice, there was suspicion of pulmonary congestion on chest radiography. On arterial blood gas analysis, the partial pressure of oxygen (PaO2) while breathing room air was 64 mmHg. However, the patient was not dyspneic, and pulmonary congestion and PaO2 improved over time. On postoperative day 2, the patient was transferred to the general ward without any significant problems. | [[65.0, 'year']] | M | {'11867394': 1, '24891196': 1, '19299790': 1, '29598840': 1, '10702469': 1, '1768556': 1, '22037225': 1, '26161424': 1, '25664151': 1, '22560270': 1, '16143575': 1, '29082910': 1, '30031381': 2} | {} |
1,342 | 6054852-1 | 30,031,391 | comm/PMC006xxxxxx/PMC6054852.xml | Early anal gland adenocarcinoma with a characteristic submucosal tumor-like appearance: a case report | A 62-year-old man was referred to our hospital for treatment of a rectal SMT detected during a medical checkup at another hospital. Digital examination of the anus and rectum revealed a 20-mm elastic hard tumor palpable on the right and ventral sides of the anal canal and located 2 to 3 cm proximal to the anal verge. Laboratory examination showed no elevation of either carcinoembryonic antigen or cancer antigen 19-9. Colonoscopy showed a 20-mm SMT in the anal canal (Fig. ). Abdominal computed tomography (CT) showed a 20-mm cystic tumor on the right site of the lower rectum with no evidence of lymph node or distant metastases (Fig. ). Magnetic resonance imaging (MRI) also showed a 20-mm cystic tumor on the right site of the lower rectum (Fig. ). These findings strongly suggested a benign cyst in the anal canal; therefore, the patient underwent trans-sacral resection for precise diagnosis of the tumor. The pathological diagnosis of the resected tumor was a mucinous adenoma with high-grade dysplasia (Fig. ) with negative surgical margins. The patient was observed in ambulatory practice. Follow-up CT and MRI 14 months after surgery showed a new cystic lesion near the site of the removed tumor (Fig. ). To evaluate whether the new cystic tumor was a recurrence, the patient underwent trans-sacral resection of the cystic tumor again. Pathological examination of the second resected tumor revealed that the tumor was a mucinous adenocarcinoma of the lower rectum (Fig. ) with a possible remnant tumor at the local site. After providing sufficient informed consent, the patient underwent anal sphincter-preserving intersphincteric resection (ISR) with partial resection of the external sphincter along with prophylactic lymph node dissection. Pathological examination showed that the tumor cells were located at the anal gland under the mucosa of the anal canal and that these cells produced mucin and fibrosis (Fig. ). Immunohistochemical analysis showed that the tumor cells were positive for cytokeratin 7 (CK7) and negative for CK20 (Fig. ). The final diagnosis was an early mucinous adenocarcinoma arising from the anal gland without an invasive appearance. The TNM classification was pT1N0M0 stage I, and the surgical margin was negative for tumor tissue. No adjuvant chemotherapy was performed for this patient. At the time of this writing, 79 months after surgery, the patient was alive without recurrence and active in society. | [[62.0, 'year']] | M | {'11596018': 1, '24705191': 1, '22707467': 1, '9038740': 1, '19630115': 1, '9264365': 1, '22643253': 1, '8458266': 1, '7953423': 1, '11473461': 1, '11485523': 1, '27510691': 1, '30031391': 2} | {} |
1,343 | 6054855-1 | 30,031,375 | comm/PMC006xxxxxx/PMC6054855.xml | Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report | A 61-year-old man acutely developed diplopia and balance disorders. 24 h after onset, he was admitted in the hospital due to ascending paresthesias and an emerging tetraparesis. On day 4 after onset, examination showed a drowsy patient with ophthalmoparesis, areflexia and severe tetraparesis. Plantar responses were flexor. The cerebrospinal fluid study was normal. IgM to Mycoplasma Pneumoniae and IgG anti-GQ1b (1:2560) were detected. IgG and IgM anti- GM1, −GD1a, −GD1b and -GM2 were absent. Two MRIs of the brain, one with gadolinium, were normal. The patient was treated with intravenous immunoglobulin (IVIg) (0,4 g/kg/day X 5 days) but worsened to complete ophthalmoplegia, tetraplegia and coma needing mechanical ventilation. Considering the severity of the condition a second IVIg course was started on day 24. A few days later he began to improve, with initial resolution of the drowsiness and bulbar symptoms, and partial resolution of the ophtalmoplegia. The patient was weaned off ventilation on day 41 and transferred to rehabilitation on day 57 with improved muscle strength (MCR scale: 2–3/5 in the lower and 2/5 in the upper limbs). After considering the results of the nerve conduction studies performed on days 72 and 128, we searched for antibodies to Neurofascin155, Contactin1 and Contactin associated protein1 that resulted negative. On the other hand, five months after the onset of symptoms, the anti GQ1b IgG rate remained elevated (1:2560).\nA third IVIg course was started on day 179. On day 240, the patient had recovered muscle strength, except in the right upper limb (MCR scale: 3–4/5) and showed mild gait ataxia.\nFour serial conduction studies were performed (Table , Fig. ). On day 4 compound muscle action potentials (CMAPs) were not recordable or were very reduced in amplitudes with slightly prolonged distal motor latencies (DML) and normal motor conduction velocities (MCVs). Sensory nerve action potentials (SNAPs) showed reduced amplitudes in the right sural nerve and were not recordable in the five other nerves. On day 72, distal CMAPs, previously undetectable, were measured at 5.3 and 2.6 mV in the median nerves, and 1.1 mV in the left ulnar nerve. CMAP amplitude of the right ulnar nerve was increased by 512%. Partial CBs, defined as > 30% decrease of proximal CMAP amplitude without abnormal temporal dispersion of proximal CMAP (< 30% increased CMAP duration) [], emerged in intermediate nerve segments of both median and ulnar nerves with decrements of proximal CMAP amplitudes ranging from 30.2 to 73% (Fig. ). An additional partial CB was detectable in the right median nerve in the Erb’s point-axilla segment (Fig. ). MCVs were slow. SNAPs with reduced amplitude were recordable in 7/8 nerves. On day 128, distal CMAP amplitudes furtherly increased with however persistently low distal CMAP amplitudes for the common peroneal nerves. Partial CBs improved in the intermediate segments of left median and right ulnar nerves.\nThe last study on day 240 showed distal CMAP amplitudes in the normal range, except in the left peroneal nerve as well as the resolution of CBs in all nerves with the exception of the emergence of a partial CB in the intermediate segment of the left peroneal nerve, possibly revealed by the increased distal CMAP amplitude due to the resolution of a distal CB. MCV were still slow in some nerve segments. SNAPs amplitudes remained reduced reaching the normal range in only 1/8 nerves. | [[61.0, 'year']] | M | {'22984203': 1, '21504501': 1, '19145655': 1, '21316711': 1, '2710368': 1, '25072194': 1, '8837021': 1, '26969889': 1, '25699569': 1, '29248893': 1, '8229054': 1, '22480600': 1, '22767382': 1, '1514781': 1, '28521265': 1, '13436795': 1, '11118247': 1, '28025664': 1, '9708542': 1, '20870864': 1, '7964875': 1, '13334797': 1, '20082412': 1, '27974981': 2, '23584494': 1, '23639374': 1, '14617715': 1, '30031375': 2} | {'5128697-1': 1} |
1,344 | 6055355-1 | 30,046,662 | comm/PMC006xxxxxx/PMC6055355.xml | Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy | A 2-year old girl presented to the neurology clinic at the Children's Hospital of Philadelphia (CHOP) for hypotonia and mild gross motor delays. Neurologic examination at presentation was only remarkable for hypotonia and a 1-handed Gower maneuver, suggestive of mild weakness. Family history was unremarkable. Laboratory workup found elevated creatine kinase (CK) (616 U/L, normal 60–305) and lactic acidosis (3.76 mM, normal 0.8–2.0) levels; therefore, muscle biopsy and subsequent genetic testing were pursued. Clinical testing for nuclear mitochondrial disease genes and full mitochondrial DNA (mtDNA) sequencing (in blood and muscle) were obtained via the next-generation sequencing panel. | [[2.0, 'year']] | F | {'32728477': 1, '31618756': 1, '18508266': 1, '34827632': 1, '31195097': 1, '34683364': 1, '31021000': 1, '34731606': 1, '27693233': 1, '23401503': 1, '24474793': 1, '27001633': 1, '33923309': 1, '15670820': 1, '10926541': 1, '33608280': 1, '32783608': 1, '16155110': 1, '34350863': 1, '25857778': 1, '26469001': 1, '32340404': 1, '30046662': 2} | {} |
1,345 | 6055544-1 | 30,046,443 | comm/PMC006xxxxxx/PMC6055544.xml | Intrathoracic scapular dislocation following lung cancer resection | A 64-year-old man who underwent a right upper lobectomy in our institute, involving an extended resection of the posterior chest wall to treat a stage IIIA lung cancer. The dorsal portion of the third to fifth rib was additionally cut during the procedure, and the defect of chest wall was covered using Gore-Tex® Dual Mesh (Japan Gore-Tex Inc., Tokyo, Japan), which is a pure and unique expanded polytetrafluoroethylene (ePTFE) prosthesis, consists of two functionally distinct surfaces [].\nPostoperative acute course was uneventful. However, at postoperative Day 6, he experienced acute severe pain in the right shoulder. The slightly purulent drainage through drainage tube positioned on the mesh was also found. Pus culture from the drain discharge isolated Corynebacterium atrium. Computed tomography (CT) revealed that when the symptoms appeared, abnormal position of the right scapula with the inferior angle of the scapula was caught inside the top of the sixth rib (Fig. ). The conservative treatment failed to improve the scapular dislocation. We performed a redo surgery. We found that all suture threads which attached Mesh to sixth rib were cut, and the dislocation of the right scapula with the inferior angle of the scapula protruding into the right intrathoracic cavity though his thoracotomy defect (Fig. ). We also found a local infectious change at the head side of the Mesh (not the site of scapular dislocation), and found no macroscopic intrathoracic infectious changes. A removal of mesh was carried out. After improving the scapular dislocation and removal of mash, washing with 10 L of physiologic saline was carried out. We did not want to use synthetic materials because of infection. In this case, however, the infection was localized and titanium plate is reported to be resistance to infection [], we performed titanium plate fifth rib fixation to avoid the recurrent dislocation of the scapula (Fig. ). After the redo surgery, continuous lavages with physiologic saline of the thoracic cavity and antibiotic therapies were also performed for 21 days. The repeated culture of the drainage showed no bacterial isolation. After removal of drainage tube, there was no recurrence of infection and scapular dislocation. He had full range of motion of his right shoulder without pain. Patient is now doing well with free from recurrences of cancer, infection and scapular dislocation, 16 months after the redo surgery. | [[64.0, 'year']] | M | {'9843320': 1, '23397830': 1, '28348908': 2, '23790678': 1, '8149273': 1, '8682836': 1, '2592397': 1, '21051382': 1, '22390984': 1, '20724421': 1, '30046443': 2} | {'5350483-1': 1} |
1,346 | 6055585-1 | 30,057,742 | comm/PMC006xxxxxx/PMC6055585.xml | Food protein-induced eosinophilic enteritis with intestinal stricture in a neonate: a case report and review of the literature | A 21-day-old boy with vomiting, abdominal distention and feeding intolerance presented to our institution. He was born at 36 weeks and 6 days of gestation, weighing 2220 g, with Apgar scores of 8 at 1 min and 8 at 5 min. For the first 4 days of life, he was both breast- and formula-fed. After hospital discharge, he was exclusively breast-fed. He experienced occasional vomiting until 19 days of age, when he developed frequent vomiting. When he was 20 days old, he was taken to the doctor for several days of watery stools, a single episode of bilious vomiting, and feeding intolerance. He was admitted to a local hospital at a weight of 2685 g. Abdominal radiography showed partially dilated loops of bowel with intestinal gas (Fig. a), and a gastric tube was inserted for frequent vomiting. At the age of 21 days, he was transferred to our hospital for further examination. A gastrointestinal X-ray series and an enema revealed gastric volvulus and gastroesophageal reflux, without intestinal malrotation or a change in intestinal caliber. We admitted the patient for observation. The following day, an abdominal radiograph showed complete passage of contrast, which indicated the absence of intestinal atresia or obstruction. However, the volume of bile discharged through the gastric tube was gradually increasing, and he had little passage of feces, even with a glycerin enema. We decided to re-evaluate for intestinal obstruction and injected contrast into the gastric tube. Follow-up abdominal radiography showed obvious intestinal dilation with gas and retention of the contrast medium (Fig. b and c). Based on his clinical course and radiological findings, we suspected distal intestinal obstruction. When the patient was 24 days of age, we performed laparotomy, which revealed a caliber change in the ileum with a stricture ~10 cm proximal to the ileocecal valve (Fig. a). A 6-cm length of bowel around the stricture site was resected, and an end-to-end anastomosis was performed. On gross findings of the resected specimen, the lesion was noted to be 1.5 cm in length, featuring a stricture and erosion/ulceration (Fig. b and c). On microscopic examination, the margins of resection showed <20 eosinophils per high-power field (HPF) (×400) (Fig. a). However, mucosal eosinophilia was recognized in distant position from the ulcer (Fig. b and c). The presence of eosinophil accumulation in the lesions presented more than 20 eosinophils per high-power field (HPF) (×400). The eosinophils were oriented towards the epithelium and diffusely distributed throughout the tissue. In the stenotic portion of the specimen, the layers between the mucosa and the muscularis propria were notably absent, and granulation and fibrotic tissues were found (Fig. d).\nBased on these findings, the suspected diagnosis was eosinophilic enteritis. However, laboratory data on admission showed no hypereosinophilia (white blood cell count, 4800/μL with 1.4% eosinophils). Serum allergy investigation revealed no remarkable elevation in non-specific IgE, although the C-reactive protein level was slightly elevated (Table ). Nevertheless, we strongly suspected a food protein-induced allergy to cow’s milk or breast milk. An allergen-specific lymphocyte stimulation test was performed for kappa (κ)-casein, lactoferrin and human alpha (α)-lactalbumin (outsourced to Bio Medical Laboratories [BML, Inc, Tokyo, Japan]) []. The lymphocyte response to lactoferrin was markedly increased (7489 counts per minute; stimulation index, 10.11; cutoff index, 3.9) (Table ). He was finally diagnosed as eosinophilic enteritis with intestinal stricture caused by an allergy to either cow’s milk or breast milk. After surgery, the patient was fed with a pediatric elemental formula. His subsequent hospital course was uneventful, and he was discharged with no symptoms and good weight gain on the 19th postoperative day. At 5 months of age, he was able to eat baby food with no recurrence of symptoms. At 1 year of age, favorable growth and development were confirmed. | [[21.0, 'day']] | M | {'27288868': 1, '26841092': 1, '2406081': 1, '2318432': 1, '21912174': 1, '25034379': 1, '16029913': 1, '30057742': 2} | {} |
1,347 | 6055724-1 | 29,885,069 | comm/PMC006xxxxxx/PMC6055724.xml | Durable clinical remission of a skull metastasis under intralesional Viscum album extract therapy: Case report | A 68-year-old woman was diagnosed with deep rectal cancer with lung metastases. She was of normal body weight, was a nonsmoker, had a normal diet with low meat consumption, and was physically active (swimming, hiking, and tennis). With regard to family medical history, her sister had gastric cancer, and her father had diabetes.\nThe primary tumor was excised via deep anterior rectum resection and classified as moderately differentiated adenocarcinoma with expression of carcinoembryonic antigen and specifically p53 (pT2, pN1 [2/9], cM1, and G2). After surgery, a chemotherapy regimen with 4 cycles of folinic acid, 5-fluorouracil, irinotecan hydrochloride (FOLFIRI) was started and led to stable disease; the regimen was then changed to 2 cycles of folinic acid, fluorouracil, and oxaliplatin (FOLFOX), again resulting in stable metastatic lesions. Epidermal growth factor receptor testing was positive; therefore, the patient was treated with cetuximab and irinotecan, which had to be stopped after the first cycle due to dermatologic side effects; the number and size of pulmonic metastases remained unchanged under this treatment.\nA year after the initial diagnosis, osteolytic bone metastases were found in the parietal bone and left pubis. The pelvic metastasis was treated with radiation (36 Gy). A palliative chemotherapy regimen with bevacizumab, irinotecan, fluorouracil, and leucovorin had to be stopped after 2 cycles because of elevated liver enzymes and a recurrence of hepatitis C; additionally, diabetes mellitus was found. The cancer lesions remained stable for 10 months, when new metastases of the cervical spine with infiltration of the neuroforamina were found. Radiation of the cervical spine was performed (40 Gy), bisphosphonate therapy was started (zoledronic acid 4 mg every 3 weeks), and another 6 cycles of FOLFOX4 chemotherapy were given. Under these therapies, the existing metastases remained stable, although a new metastasis appeared on the right chest wall. A maintenance treatment with capecitabine was started (1000 mg/m2 d1-d14 2×/d). Two months later, the patient had a pathologic fracture of the right hip and received a hip prosthesis and radiation of the right hip (36 Gy). Surprisingly, pathologic investigation of the hip bone from surgical replacement showed a metastasis of a follicular thyroid carcinoma; as the thyroid of the patient had been nearly completely removed in a stromal thyroidectomy several years before and the patient's condition was described as palliative, no further investigation regarding this diagnosis was carried out.\nAt the same time, radiotherapy of the skull with 42 Gy was performed due to progression of the osteolytic lesion of the parietal bone into a calvarian skull metastasis crossing the suture to the occipital bone. Despite radiotherapy, the calvarian metastasis progressed, as did further metastasis of the head region (frontal left sinus with infiltration of the orbita and occipital). Another round of radiotherapy of the other head metastases was performed (occipital = 40 Gy; frontal sinus = 36 Gy) without response.\nAt this point, the patient presented with the painful progressing calvarian skull metastasis of 9.3 × 9.3 × 5.2 cm (Figure ) despite radiotherapy (42 Gy, 4 months before), chemotherapy (capecitabine), and bisphosphonate therapy at the Center for Complementary Medicine at the University of Freiburg, Germany.\nThe metastasis had necrotic cavities within the tumor mass, from which liquid containing no viable tumor cells could be drawn. Weekly injections of VAE into the calvarian skull metastasis were started (Abnobaviscum fraxini 40-100 mg). After 2 treatments, the patient reported a reduction of pain and tenderness of the previously tense area of metastasis. As a result of this positive effect, the treatment was continued. The patient experienced mild fever, which was self-limiting, and eosinophilia up to 47% (normal range <5%), which decreased over time. The size of the metastasis decreased considerably to 6 × 5 × 2 cm (>50%) during the course of treatment and remained stable for 2 years with continued VAE treatment. (Later in the course, the application was reduced to once every 2 weeks.) During the VAE therapy, 1 new bone metastasis appeared at the left clavicle and was treated with radiotherapy. No further metastases appeared, and the other sites of metastases (lung, pubis, and cervical spine) remained stable. After this time, the lesions progressed, and the patient died at the age of 74 years (77 months after initial diagnosis and 39 months after the initiation of intratumoral VAE treatment; for details, see Figure ).\nThe patient was treated with bisoprolol for hypertension, with insulin for diabetes mellitus type 2. She had a medical history of appendectomy and hysterectomy; and hepatic cysts were present.\n“[My] whole well-being has changed, and I've got more power to do my things. Beforehand, there were days where I felt completely powerless and I wanted to give up. The mistletoe treatment helped me there.” | [[68.0, 'year']] | F | {'21871125': 1, '23890767': 1, '26501975': 1, '20483874': 1, '33618582': 2, '14710208': 1, '27485618': 1, '17507307': 1, '23133496': 1, '32917288': 1, '19661299': 1, '27207233': 1, '17532738': 1, '25082867': 1, '28529185': 1, '23394841': 1, '24278797': 1, '29885069': 2} | {'7905720-1': 1} |
1,348 | 6056067-1 | 30,083,301 | comm/PMC006xxxxxx/PMC6056067.xml | Effectiveness of a lightweight portable auto-CPAP device for the\ntreatment of sleep apnea during high altitude stages of the Dakar Rally: a case\nreport | A 57-year-old man with severe obstructive sleep apnea who had been using an auto-CPAP\ndevice (DreamStarT Auto, SEFAM, France) for 4.5 years consulted his home care\nprovider a few weeks prior to participating in the 2017 Dakar Rally in view of\nobtaining a portable system. At the time of diagnosis in Grenoble, France (1000\nfeet) his OSA parameters were as follows: Apnea Hypopnea Index (AHI)=60 events/hour,\nobstructive AHI=39,3 events/hour, central AHI=4,1 events/hour, mixed AHI=13,8, mean\nSpO2=90.1% and Oxygen Desaturation Index: 61.8 events/hour; % of\nsleep time <90% = 35.8). At 4.5 years, the parameters were: min-max pressures=6-8\ncmH2O, average nightly use=4.5h/night and residual AHI=7.9\nevents/hour).\nComorbidities included obesity (body mass index-BMI=34.9 kg/m2) and\nhypertension treated by angiotensin II antagonists, with no cardiovascular events.\nAt Grenoble, in France (altitude <900 feet) the arterial blood gas test showed\nPaO2=86mmHg, PaCO2=38mmHg and pH=7.39. The exercise test\nshowed a high ventilatory response to hypoxia (0.87 L/min/% SpO2/kg),\ni.e. above the threshold associated with an increased risk of acute mountain\nsickness. Acetazolamide\nwas not prescribed because potential adverse effects could not be assessed before\ndeparture.\nThe patient was equipped with the Transcend auto™ mini CPAP device, set to his\nusual minimal and maximal pressures and using his usual mask (nasal); tolerance was\ngood. He was asked to note the altitude at which he slept each night. On return to\nFrance, data from the built-in CPAP software were extracted and analyzed. and show the variations in 95th percentile pressures and the\nresidual apnea-hypopnea index for each bivouac altitude.\nThe 95th percentile pressure was highest at the highest altitudes (La Paz\nand Copacabana). The residual AHI, estimated by the built-in software, closely\nfollowed the different altitudes. Medication that could potentially impact sleep\napnea severity (hypnotic,\nsedative drugs or opiods) were not used during the trip. Alcohol consumption was not\naccurately documented; the patient reported a consumption <3 units of alcohol per\nday. | [[57.0, 'year']] | M | {'21856702': 1, '19318347': 1, '24377340': 1, '23372276': 1, '23232895': 1, '19201929': 1, '24811331': 1, '27735059': 1, '22219335': 1, '6412339': 1, '19228987': 1, '22599358': 1, '25973669': 1, '20435865': 1, '22071330': 1, '7497764': 1, '20469814': 1, '26229000': 1, '30083301': 2} | {} |
1,349 | 6056071-1 | 30,083,300 | comm/PMC006xxxxxx/PMC6056071.xml | Severe obstructive sleep apnea treatment with mandibular advancement\ndevice: A case report | A 49-year-old CPAP-intolerant male patient was referred by an\notorhinolaryngologist for MAD treatment. In the anamnesis, no orthodontic,\northopedic or surgical intervention was reported in the craniocervical complex.\nThe patient’s main complaint was excessive daytime sleepiness, persistent\nfatigue, frequent and loud snoring and witnessed apneas. He scored 10 points in\nthe Epworth Sleepiness Scale\nand presented a body mass index (BMI) of 32.9 kg/m. In basal PSG, the patient presented a sleep\nefficiency of 80.6%, AHI of 80.5 events/h (apnea index = 36.1, hypopnea index =\n44.4). The mean of SpO2 was 93%, the minimum of SpO2 was\n46%, and the percentage of time below 90% was 32.7%. Regarding the sleep\narchitecture, it presented 4.3% of N3, 7.4% of REM and 64.3/h of arousal\nindex.\nThe patient did two full night polysomnography recordings: the baseline\nrecording, and with MAD titrated in situ. A type III home sleep portable\nmonitor, the ApneaLink, was also used to monitor the patient. This device\nrecords 4 channels from 3 non-invasive sensors which measure respiratory effort,\nairflow, pulse rate, and oxygen saturation.\nThe full night polysomnography (PSG) was performed in a sleep laboratory.\nPolysomnography included electroencephalography, electromyography,\nelectrocardiogram, oxygen saturation measured by a finger pulse oximeter and\nelectroculogram. The respiratory variables recorded by pressure nasal cannula\nand thermistor. Respiratory effort was measured using a respiratory inductance\nplethysmography. Snoring was recorded by a microphone and body position was\nmonitored using a piezoelectric sensor.\nPolysomnographic recordings were scored according to the guidelines of the\nAmerican Academy of Sleep Medicine. Obstructive apnea was defined as a = 10-second cessation of\nair flow on the pressure nasal cannula, associated with an oronasal thermal\nsensor. Hypopnea was defined as a = 50% reduction in airflow, or a reduction of\nairflow <50% on the nasal pressure cannula accompanied by a decrease = 3% in\noxygen saturation (SpO2) or an arousal. Central apnea was defined by\nthe absence of respiratory effort throughout the entire period of absent air\nflow; and mixed apnea was defined by the onset of the respiratory event with no\nairflow and no respiratory effort during the first half of the event and, at the\nsecond half of the event, the absence of airflow persisted even after a\nresumption of inspiratory effort. The minimum SpO2 (SpO2\nnadir) was also recorded.\nComplete orthodontic documentation was requested, including cephalometric\nanalysis (). The patient presented\nsatisfactory dental and periodontal conditions and was capable to perform\nprotrusive, latero-protrusive, opening and closing mandibular movements in a\ncoordinated way. The oropharyngeal inspection revealed an elongated soft palate,\nMallampati Grade IV and palatine tonsil Grade II.\nThe treatment was conducted with a MAD (Lateroprotrusive Plate -\nPLP®) (). The\nabsolute range of maximal mandibular protrusion was measured (in mm) with the\nuse of the George Gauge (Great Lakes Orthodontics, Ltd., New York, USA). The\nconstruction bite was registered at 50% of the maximum mandibular protruded\nposition (patient’s maximum protrusion was 9.0 mm) and progressive advances were\nperformed up to 7mm. In this position the MAD was optimally titrated resulting\nin symptoms resolution and the patient reported no complaints of symptoms in the\ntemporo-mandibular joints.\nThe time interval between fitting the MAD and the monitoring PSG exam with the\nMAD was 5 months. After fitting and titrating the MAD the patient continued to\nreturn to the annual follow-up visits. There were no complaints related to\ntemporomandibular disorders or masticatory muscles. However, there were discrete\nalterations in dental occlusion, which were carefully managed. | [[49.0, 'year']] | M | {'32764565': 1, '23928873': 1, '10450601': 1, '27128710': 1, '25845897': 1, '26094920': 1, '23731062': 1, '16282178': 1, '19820814': 1, '18250209': 1, '16494092': 1, '18725495': 1, '16553024': 1, '26754931': 1, '15781100': 1, '28591236': 1, '23413266': 1, '19147401': 1, '16494093': 1, '30083300': 2} | {} |
1,350 | 6056498-1 | 30,062,063 | comm/PMC006xxxxxx/PMC6056498.xml | Combined effects of FH (E404D) and ACOX2 (R409H) cause metabolic defects in primary cardiac malignant tumor | In November 2011, a 40-year-old man presented with sudden chest pain and shortness of breath after slight exertion. The patient had a 20-year history of smoking cigarettes and drinking alcohol. In 2003, he had undergone an operation and medicinal treatment as a result of tuberculous pleurisy. The patient had no drug/food allergy history and no history of heredity diseases in his family. However, three siblings of Patient-1's parents were diagnosed with malignant tumors and another sibling died of an unknown cause (Fig. ). Chest X-rays showed an enlarged cardiac shadow and abnormal cardio-thoracic proportions (Fig. ). Electrocardiogram detected a right bundle branch block and ST-T abnormalities. Transthoracic echocardiogram revealed pericardial effusion, space-occupying lesions, and an obstruction in the RV outflow tract with a round mass 10 × 5.5 cm2 in size (Fig. ). A full-body computed tomographic and abdominal ultrasound examination excluded tumors in other organs. Although the patient received a complete surgical resection of the abnormal tissue, he died secondary to a recurrence of the tumor 2 months post-surgery.\nPeripheral blood samples were collected for heparin anticoagulation prior to surgery. Tumor and adjacent tissue samples were taken during surgery and subsequently sent to the following medical facilities for pathologic evaluation: the Shanghai No.6 People’s Hospital, Shanghai, China; the Huashan Hospital affiliated with Fudan University, Shanghai, China; and the MD Anderson Cancer Center, Houston, TX, USA. Immunohistochemical analysis was performed following the standard manufacturer’s protocols. The diagnostic report included a positive reaction for Vimentin(+), CK(+), and WT-1(+) and negative reaction for MyoD-1(−), CD31(−), CD34(−), Desmin(−), SMA(−), S100(−), MSA(−), EMA(−), Myogenin(−), CK5/6(−), HBME-1(−), and PGM-1(−) (Fig. ). Hematoxylin and eosin staining indicated that the cells contain many multinuclear cells and abnormal nuclei. Finally, this patient was diagnosed as having a primary cardiac MFH in the RV. | [[40.0, 'year']] | M | {'27647924': 1, '27774647': 1, '26819376': 1, '26266975': 1, '29069586': 1, '18043974': 1, '28400508': 1, '19924273': 1, '18428421': 1, '25583473': 1, '11813848': 1, '26701847': 1, '18824772': 1, '25252913': 1, '16098467': 1, '26266985': 1, '32727112': 1, '26403419': 1, '24334767': 1, '13298683': 1, '27580029': 1, '7516873': 1, '11865300': 1, '26467256': 1, '26580448': 1, '28617436': 1, '32489430': 1, '15811617': 1, '19460998': 1, '11689955': 1, '30062063': 2} | {} |
1,351 | 6056531-1 | 30,038,349 | comm/PMC006xxxxxx/PMC6056531.xml | SCN4A as modifier gene in patients with myotonic dystrophy type 2 | Patient 1. The proband, a 30 years old man, was admitted to the Department of Neurology of the IRCCS Policlinico San Donato because of muscular stiffness and grip myotonia since the age of 12. The patient complained difficulties in fine finger movements and diffuse muscle stiffness especially when he woke up in the morning. These symptoms progressively worsened over time and with cold, while improved with repetitive movement. Neurological examination revealed normal muscle strength (grade 5 MRC in all muscles tested) and tone, a lid lag, eyelid and mild tongue myotonia. Severe grip myotonia was evident, with a positive warm-up phenomenon. Deep tendon reflexes were normal. The EMG showed diffuse signs of myotonic discharges in all muscles tested. EKG, Holter electrocardiographic recordings and echocardiogram were normal. Laboratory studies demonstrated normal electrolyte, urea, creatinine, and lactate dehydrogenase levels. CPK was 231 U/L (normal values < 190 U/L). AST (56 U/L; normal values < 41 U/L) and GGT (106 U/L; normal values 8–61 U/L) were mild increased. Lipid profile showed high levels of total (260 mg/dl; normal values < 200 mg/dl) and LDL (174 mg/dl; normal values < 159 mg/dl) cholesterol and triglycerides (356 mg/dl; normal values < 200 mg/dl) with the evidence of hepatic steatosis at the abdomen ultrasound. | [[30.0, 'year']] | M | {'28078562': 1, '11486078': 1, '12796551': 1, '34234810': 1, '27714768': 1, '30341596': 1, '9620781': 1, '33325393': 1, '22407275': 1, '25660391': 1, '14742629': 1, '23097607': 1, '19345584': 1, '27653901': 1, '12150905': 1, '18807173': 1, '18807109': 1, '26505324': 1, '25548669': 1, '11486088': 1, '25880512': 1, '25088311': 1, '28265756': 1, '1339144': 1, '33458578': 1, '14608015': 1, '19015483': 1, '12898257': 1, '20237798': 1, '15718211': 1, '28427807': 1, '21204798': 1, '24516722': 1, '30038349': 2} | {'6056531-2': 2} |
1,352 | 6056531-2 | 30,038,349 | comm/PMC006xxxxxx/PMC6056531.xml | SCN4A as modifier gene in patients with myotonic dystrophy type 2 | Patient 2. The proband’s mother was 64 years old when she was admitted to our department. She complained muscular stiffness, difficulties in climbing stairs and rising from the squatting position since the age of 57. Bilateral cataracts surgery before 60 years old and asthma were referred. Neurological examination revealed normal muscle strength except for facial mimetic muscles, neck flexors (grade 4 MRC), shoulders abductors (grade 4 MRC), brachial biceps (grade 4 MRC) and hip flexors (grade 4 MRC). Deep tendon reflexes were uniformly diminished. Clinical myotonia was absent. Muscle tone was normal except for bilateral gastrocnemius hypertrophy. The EMG study showed myotonic discharges in all muscles examined, but no myopathic changes. EKG, Holter electrocardiographic recordings, and echocardiogram were normal. Routine laboratory studies were normal except for serum creatine levels (229 U/L; normal values < 190 U/L) and mild hypercholesterolemia.\nNeurological examination of the father resulted negative and for this reason he refused to undergo further investigations. | [[64.0, 'year']] | F | {'28078562': 1, '11486078': 1, '12796551': 1, '34234810': 1, '27714768': 1, '30341596': 1, '9620781': 1, '33325393': 1, '22407275': 1, '25660391': 1, '14742629': 1, '23097607': 1, '19345584': 1, '27653901': 1, '12150905': 1, '18807173': 1, '18807109': 1, '26505324': 1, '25548669': 1, '11486088': 1, '25880512': 1, '25088311': 1, '28265756': 1, '1339144': 1, '33458578': 1, '14608015': 1, '19015483': 1, '12898257': 1, '20237798': 1, '15718211': 1, '28427807': 1, '21204798': 1, '24516722': 1, '30038349': 2} | {'6056531-1': 2} |
1,353 | 6056637-1 | 30,065,917 | comm/PMC006xxxxxx/PMC6056637.xml | Cantrell Syndrome—A Rare Complex Congenital Anomaly: A Case Report and Literature Review | A 31-year-old woman, gravida 2 para 1, presented for a prenatal ultrasonographic examination at 36 gestational weeks owing to a suspicion of a fetal thoracic wall defect. Her personal history revealed a spontaneous abortion and no consanguinity. She underwent routine ultrasonographic examinations at 13, 22, and 30 gestational weeks at a regional hospital; however, at 35 gestational weeks, ultrasonography revealed an abnormal fetal thoracic wall.\nPrenatal ultrasonography revealed a fetal thoracoabdominal wall defect with partial displacement of the left ventricle and the liver associated with rotation and elongation of the heart and a high index of clinical suspicion for intracardiac malformations such as tricuspid atresia, a ventricular septal defect, and pulmonary artery hypoplasia (Figures –).\nBased on the aforementioned findings, she was admitted to the Obstetrics and Gynecology Clinic in Târgu Mure at 39 gestational weeks, where she underwent a cesarean section. The male newborn weighed 3,100 g with an APGAR score of 7. Clinically, he demonstrated a superior abdominal wall defect, a partial extrathoracic displacement of the heart, and a partially herniated liver (these structures being covered by a very thin skin layer), and also a diastasis of the sagittal suture (Figure ). The newborn was intubated, and we applied a saline-soaked gauze pad on the thoracoabdominal and cranial defects to maintain humidity.\nPostnatal echocardiography confirmed the prenatal diagnosis and also showed a partial extrathoracic and extra-abdominal displacement of the heart and liver, a large ventricular septal defect, great arteries originating from the left ventricle with the aorta situated anteriorly, a posterior deviation of the outlet septum causing severe subpulmonary stenosis, hypoplasia of the pulmonary artery, and a large hourglass-shaped left ventricle secondary to narrowing of the heart at the level of its extrathoracic displacement.\nWe also performed thoracoabdominal CT-angiography, which showed complex cardiac malformations consisting of large ventricular and atrial septal defects, an increased left ventricular volume, with apical extrathoracic aneurysmal dilatation below the xiphoid process at the level of the abdominal midline, hypoplasia of the right ventricle, and a reduced caliber of the pulmonary trunk artery. Abdominal CT revealed partial transparietal herniation of the left hepatic lobe adjacent to a left ventricular diverticulum, and an increase in the size of the right adrenal gland with hyperdense contents suggesting an adrenal hematoma. Cranial CT revealed a diastasis of the sagittal suture causing subcutaneous herniation of the venous sagittal sinus.\nFollowing admission to the Neonatal Intensive Care Unit, the newborn was administered ampicillin and amikacin, fluconazole, prostaglandin E, and phenobarbital (because he presented with multiple seizures), and also received daily dressing changes. During the first week of life, he showed multiple episodes of bradycardia and low oxygen saturation despite undergoing orotracheal intubation; therefore, surgical intervention was postponed until he was hemodynamically stable. He underwent surgical intervention at 14 days of age, consisting in the replacement of the heart inside the thorax via a systemico-pulmonary shunt procedure, with vascular prosthesis, the ligature of both persistent arterial canal and pulmonary artery trunk, and repair of the diaphragm defect. The abdominal wall defect was also sutured, but the thorax remained open. The surgical procedure was performed in extracorporeal circulation, and lasted 4 h and 15 min.\nPostoperatively, the newborn developed multiple episodes of tachyarrhythmia and low cardiac output suggesting an inability of the heart to adjust to the intrathoracic pressure. Unfortunately, the newborn died 5 h postoperatively secondary to progressive hemodynamic deterioration, metabolic acidosis, and hypoxia. | [[31.0, 'year']] | F | {'17354250': 1, '21768372': 1, '4263752': 1, '31590448': 2, '21484999': 1, '2353320': 1, '25802780': 2, '33832161': 2, '10477886': 1, '3189399': 1, '17674044': 1, '25727890': 1, '13592660': 1, '23035158': 1, '19586929': 1, '12420845': 1, '26265899': 1, '25092102': 1, '24497721': 2, '34659606': 1, '18582820': 1, '28503337': 1, '12614821': 1, '27957373': 2, '11316317': 1, '25926914': 1, '30065917': 2} | {'3897151-1': 1, '5120199-1': 1, '6826365-1': 1, '8036021-1': 1, '4352946-1': 1} |
1,354 | 6056775-1 | 30,046,624 | comm/PMC006xxxxxx/PMC6056775.xml | Intramural Ectopic Pregnancy Following Myomectomy | A 34-year-old multiparous woman re-presented for review with vaginal discharge and\npain in the right iliac fossa on a background of a positive β-HCG. She had been\nreviewed 1 year previously in the gynecological outpatient clinic for opinion about\nan incidental finding of a benign asymptomatic fibroid discovered on a pelvic\nultrasound performed by her local doctor for investigation for gastric symptoms.\nUltrasonography performed with her local doctor revealed a 63 × 60 × 56 mm\nintramural fibroid in the right lateral posterior uterine wall and a smaller 58 × 30\n× 19 mm fibroid adjacent to the external cervical os. Despite extensive counselling\nagainst surgical management, the patient underwent an open myomectomy privately.\nShe re-presented 1 year post open myomectomy with vaginal discharge and pain in the\nright iliac fossa with a 12-week pregnancy by her last menstrual cycle. This\npregnancy was spontaneously conceived, and her past obstetric history included 2\nnormal vaginal deliveries. On review, she was clinically well and a transvaginal\nultrasound was performed, which revealed a live intramural ectopic pregnancy, with a\nthin 3-mm layer of myometrium surrounding the pregnancy ( and ). Placental invasion was also seen, thought\nto be over the previous myomectomy site. An MRI was performed following the\nultrasound to help aid management and determine if fertility sparing intervention\noptions could be considered. MRI revealed a gestational sac (8.0 × 7.9 × 7.0 cm)\ncontaining a mobile fetus within the myometrium of the right uterine cornua, with\nmarked thinning of the overlying myometrium to 3 mm, with no clinical features of\nhemoperitoneum ().\nInitial management options that were considered included medical management with\nintra-sac and multidose methotrexate, uterine wedge resection, or hysterectomy. The\npatient’s desires to conserve fertility were considered, and hence, all conservative\nmanagement options were explored at multidisciplinary clinical meetings.\nSubspecialty experts in gynecological surgery and ultrasound were involved in this\nclinical decision-making process. Unfortunately, medical management with intra-sac\nand multidose methotrexate was deemed inappropriate due to the advanced gestation\nage of the pregnancy. Wedge resection of the uterus was also excluded as a viable\nmanagement option as the location and size of the intramural ectopic pregnancy would\nresult in a large amount of uterine tissue needing to be excised. Senior clinicians,\ntogether with the patient, made a uniform decision that it would be safest to\nproceed with hysterectomy.\nA midline laparotomy, total abdominal hysterectomy, and bilateral salpingectomy was\nperformed. Blood loss was minimal, and the patient remained well postoperatively.\nShe was discharged home 3 days later after an uneventful recovery. | [[34.0, 'year']] | F | {'26819788': 2, '32041575': 2, '15695311': 1, '34778327': 1, '23375906': 1, '22567521': 1, '20607850': 1, '23312255': 1, '24034539': 1, '16869015': 1, '25860721': 1, '28454372': 1, '12519047': 1, '23417903': 1, '28626980': 1, '32720824': 2, '16785724': 1, '7714169': 1, '30046624': 2} | {'7011315-1': 1, '4706881-1': 1, '4706881-2': 1, '4706881-3': 1, '7388108-1': 1} |
1,355 | 6056926-1 | 30,061,934 | comm/PMC006xxxxxx/PMC6056926.xml | The largest reported papillary thyroid carcinoma arising in struma ovarii and metastasis to opposite ovary: case report and review of literature | A 42-year-old Indonesian female, presented at Hamad General Hospital in Doha, Qatar complaining of an on and off lower abdominal pain mainly in the right iliac fossa. She had a normal delivery 15 years ago, had regular menstrual cycles, and no previous medical illnesses.\nShe was vitally stable, with no significant lymphadenopathy or pedal edema. Abdominal examination revealed midline palpable firm mass with mild tenderness. The mass arose from the pelvis, extending 2 cm below the umbilicus. There was no ascites. Complete blood picture, renal and liver function tests were normal except for hemoglobin of 11.7 g/dl, and CA 125 was elevated (251 KU/L).\nAbdominal ultrasound showed a large solid cystic mass in the right adnexa region, reaching the midline (≈6 × 13 cm) with mild vascularity in the solid component. Both ovaries were not separately visualized. There was mild left hydrosalpinx and mild ascites. Transvaginal ultrasound did not show the left ovary, but the right ovary was visualized separately (2.5 × 2.1 cm) and confirmed the presence of complex solid cystic mass in the middle of the pelvis. The mass (13.5 × 9.8 cm) extended to the left adnexa, with cystic area (9.2 × 5.9 cm) and a solid component (9.1 × 7 cm) that had increased vascularity. Further chest/abdomen/pelvis CT and MRI (Fig. ) confirmed the size and solid/ cystic nature of the mass and showed no metastatic lesions, and also deviation of uterus to the left side.\nThe patient’s clinical picture was discussed at our gynecologic multidisciplinary meeting and total abdominal hysterectomy (TAH), bilateral salpingo-oopherectomy (BSO) and lymphadenectomy were decided. Patient underwent TAH + BSO plus infracolic omentectomy. During surgery, a freely mobile left ovarian mass was found with irregular surface and intact capsule. Right adnexa and uterus were normal. Patient had a smooth post-operative recovery and was discharged. Microscopic examination revealed an 11.0 cm left ovarian papillary thyroid carcinoma arising in SO (Figs. and ), with metastatic papillary thyroid carcinoma to the right ovary. No malignancy was found in right fallopian tube, uterus or cervix and there were negative lymph nodes. Following the histopathology results, patient had thyroid function tests (TSH, free T4, thyroglobulin) that were all normal. Thyroid ultrasound revealed 7 × 11 mm complex nodule, a 6 × 6 mm complex nodule and a 3 × 4 mm cyst in the left thyroid lobe. No lesions were observed in the right thyroid lobe. The patient’s clinical findings were discussed at our thyroid multidisciplinary meeting where total thyroidectomy and radioactive iodine therapy were decided; however the patient refused further surgical management, and was lost to follow up as she left the country.\nUpon histopathologic examination, a papillary thyroid carcinoma was identified arising in SO tumor (11.0 cm in greatest dimension) of the left ovary (Figs. , and ), and a small metastatic focus measuring 0.1 cm in the right ovary. There was no malignancy in right fallopian tube, uterus or cervix and negative lymph nodes. Thyroglobulin immunohistochemical stained section highlighted the thyroid tissue in a background of ovarian tissue with SO, and confirmed the origin from thyroid tissue (Fig. ). AJCC Pathologic tumor staging was p T1b and FIGO stage was IB. | [[42.0, 'year']] | F | {'19696610': 1, '22682753': 2, '21151690': 2, '16910883': 1, '18560398': 1, '27297016': 1, '31952290': 2, '18689908': 1, '29264493': 1, '19289330': 1, '12798728': 1, '28615984': 2, '15251841': 1, '10365682': 1, '23645304': 1, '17974173': 1, '32256692': 2, '21269611': 1, '22787184': 1, '25375817': 1, '15350384': 1, '26374222': 1, '22181336': 1, '18584410': 1, '18317221': 1, '23575091': 1, '22776228': 1, '24217901': 1, '19471561': 1, '17721188': 1, '11127011': 1, '20339953': 1, '26791568': 2, '22083503': 1, '18636616': 1, '20441513': 1, '22883659': 1, '25419058': 1, '21892277': 2, '24421920': 1, '19620939': 1, '20532676': 1, '28572843': 2, '25402391': 1, '22335029': 1, '20407319': 1, '32391231': 2, '22369392': 1, '19898969': 1, '17365830': 1, '30061934': 2} | {'5450076-1': 1, '3161682-1': 1, '2991076-1': 1, '7205381-1': 1, '7168171-1': 1, '7105337-1': 1, '3407026-1': 1, '5462550-1': 1, '4721013-1': 1} |
1,356 | 6056934-1 | 30,062,013 | comm/PMC006xxxxxx/PMC6056934.xml | Preserving fertility in an unconscious patient with Goodpasture syndrome—medicolegal and ethical aspects | The 24-year-old, adipose (BMI 41, 9 kg/m2) male patient had a 2-week history of bloody sputum accompanied by progressive dyspnea, urine of light pink color, and fever up to 39 °C. Because of a long duration car travel to Serbia and Montenegro prior to his complaints, a lung CT scan in the emergency department excluded pulmonary embolism. However, bilateral ground glass opacities and bihilar lymphadenopathy were documented—findings that were new as compared to a CT scan 2 years prior, which had been performed after suspected trauma. Together with the changes in the lungs and an elevated CRP of 47 mg/l as well as leukocytosis of 17.3 G/l, an empirical antibiotic regime with ceftriaxone and levofloxacin was started. Because of an increasing oxygen demand, he was admitted to the intensive care unit (ICU). On the ICU, oxygenation deteriorated rapidly under non-invasive ventilation so that the patient had to be immediately intubated with mechanical ventilatory support.\nIn addition, an acute impairment of kidney function with a calculated glomerular filtration rate of 42 ml/min was present, suggesting an autoimmune process with kidney and pulmonary involvement. Laboratory analysis showed positive results for anti-GBM with a high titer of 151 E/ml, and diagnosis of Goodpasture syndrome was made. Other autoimmune antibodies (ANCA) were negative. Besides, at this point, the mother stated of having a GS herself with kidney transplantation several years ago. Because of rapid aggravation of kidney function and alveolar hemorrhage, therapy with steroids, plasmapheresis, and cyclophosphamide was immediately required. Knowledge of the negative impact on fertility brought up the question about sperm cryopreservation. Assessment of the patient’s will with consultation of the patient’s mother revealed that he presumably would wish to reproduce in the future, even though there were no concrete plans known to the mother at the moment. The situation was discussed in consultation with specialists from the reproductive endocrinology and urology department, leading to the interdisciplinary decision for a testicular sperm extraction in the absence of the possibility to obtain the patient’s informed consent. The procedure took place on the ICU during nighttime in order to avoid a delay in life-saving treatment. Immediate chemotherapy was initiated and continued according to the CYCLOPS study protocol []. Alongside a step down regimen of corticosteroids adapted to anti-GBM value as well as daily plasmapheresis for a total of 14 days took place. Following initial therapy, acute kidney failure developed with need of continuous hemodialysis. A septic shock following a non-occlusive mesenteric ischemia required a specific antibiotic therapy as well as terminal ileum resection with ileostomy, subtotal colectomy, and Hartmann procedure. Because of a severe metabolic-toxic and possibly medication-induced delirium, weaning from mechanical ventilatory support failed and a dilative tracheotomy was performed. Finally, the patient recovered from the acute illness with successful removal of the tracheal cannula but ongoing need for renal replacement therapy. Regularly, he is scheduled for an intermittent hemodialysis. For control of GS, he receives a low dosage of steroids (prednisone 5 mg/day) together with close monitoring of anti-GBM antibodies (actually 14 E/ml). After recovery, the patient was informed about the interventions (especially TESE) performed during his stay on the ICU, which he received extremely positively. Informed consent for further storage of the sperms was obtained from the patient at this point. | [[24.0, 'year']] | M | {'12969182': 1, '11388816': 1, '24669162': 1, '3080145': 1, '56532': 1, '7179435': 1, '15968690': 1, '12544317': 1, '22128076': 1, '17120112': 1, '23715580': 1, '10440699': 1, '28028414': 1, '11919248': 1, '10369193': 1, '17895238': 1, '24657897': 1, '27283219': 1, '10573025': 1, '15388679': 1, '18080664': 1, '26816757': 1, '12187223': 1, '9308794': 1, '11169946': 1, '30062013': 2} | {} |
1,357 | 6057000-1 | 30,037,329 | comm/PMC006xxxxxx/PMC6057000.xml | The application of fibular free flap with flexor hallucis longus in maxilla or mandible extensive defect: a comparison study with conventional flap | Case 1 is a male, 65 years old, having squamous cell carcinoma of upper gingiva.\nThe emergency situation in flap harvesting was the perforator vessel variation. When seeking perforator, we found that the perforator was not from the peroneal artery. It resulted in the unavailability of the skin paddle. The patient had both bone defect and soft tissue defect. We had to abandon the unavailable skin paddle and seek substitution to replace it. The operator flexibly used the FHL to close the intraoral defect (Fig. ). The FFF was without skin paddle. To accelerate the intraoral mucosa forming, we used an artificial biological membrane to cover the myofascial surface of FHL and used an iodoform cotton wrapping for pressing. The skin paddle was sutured in situ. One week later, when we removed the iodoform cotton wrapping, the intraoral mucosa recovered well. (Fig. a–d) And the fibular flap survived and had no infection and necrosis. The patient was satisfied with the appearance and oral functional recovery. | [[65.0, 'year']] | M | {'11743385': 1, '32113474': 1, '11786822': 1, '1410031': 1, '19884849': 1, '24776301': 1, '9393913': 1, '8516391': 1, '20098112': 1, '28420035': 1, '8183115': 1, '1096183': 1, '7638283': 1, '18688766': 1, '14703466': 1, '22949008': 1, '8220852': 1, '34073752': 1, '21321612': 1, '2734406': 1, '22721258': 1, '12960856': 1, '27617706': 1, '8035668': 1, '30037329': 2} | {'6057000-2': 2} |
1,358 | 6057000-2 | 30,037,329 | comm/PMC006xxxxxx/PMC6057000.xml | The application of fibular free flap with flexor hallucis longus in maxilla or mandible extensive defect: a comparison study with conventional flap | Case 2 is a male, 67 years old, having squamous cell carcinoma of lower gingiva.\nThe emergency situation in flap harvesting was not enough flap tissue volume. Beyond our expectation, the tumor violated the facial skin. When we removed the violated facial skin, the skin paddle could not meet the intraoral defect and facial defect simultaneously. The operator flexibly used skin paddle repair facial defect and used it as a extraoral “window” that made it convenient to observe flap survival (Figs. and ). The FHL was used to repair the intraoral defect. And in case 1, we used an artificial biological membrane and an iodoform cotton wrapping. Ten days later, the intraoral mucosa recovered well (Fig. a–c). And the fibular flap survived and had no infection and necrosis. The patient was satisfied with the appearance and oral functional recovery. | [[67.0, 'year']] | M | {'11743385': 1, '32113474': 1, '11786822': 1, '1410031': 1, '19884849': 1, '24776301': 1, '9393913': 1, '8516391': 1, '20098112': 1, '28420035': 1, '8183115': 1, '1096183': 1, '7638283': 1, '18688766': 1, '14703466': 1, '22949008': 1, '8220852': 1, '34073752': 1, '21321612': 1, '2734406': 1, '22721258': 1, '12960856': 1, '27617706': 1, '8035668': 1, '30037329': 2} | {'6057000-1': 2} |
1,359 | 6057011-1 | 30,041,670 | comm/PMC006xxxxxx/PMC6057011.xml | Lobectomy for lung cancer in a myelodysplastic syndrome patient with decreasing platelet aggregation: report of a case | A 72-year-old man presented with cough. He was referred to our hospital because of an abnormal shadow found on a chest x-ray. His medical history included chronic obstructive pulmonary disease and hyperlipidemia. Chest computed tomography revealed a 12-mm solid nodule in the left lower pulmonary lobe without notable mediastinal lymph node enlargement (Fig. ). 18-Fluorodeoxyglucose-positron emission tomography/computed tomography showed a nodule in the left lower lobe with an increased uptake (maximum standardized uptake value of 5.3). Contrast-enhanced magnetic resonance imaging of the head was negative for metastasis. A primary lung cancer (cT1bN0M0-stageIA2) was suspected; and the patient underwent bronchoscopy, which did not produce a definitive diagnosis. Presurgical evaluation of cardiac function revealed an electrocardiographic abnormality. Coronary angiography showed moderate stenosis of the left anterior descending artery, but lobectomy was judged possible. Laboratory testing found a white blood cell count of 2600/μL with 16% neutrophils; hemoglobin, 11.5 g/dL; and platelet count, 155,000/μL; along with giant platelets in a blood smear, which suggested a hematologic disease. A bone marrow biopsy led to a diagnosis of MDS. The bone marrow biopsy revealed normocellular with 3.2% blasts. The chromosome study showed a 46,XY,+1,der(1;7)(q10;p10). The patient’s bleeding time, prothrombin time, and activated partial thromboplastin time were in the normal range. Platelet dysfunction was a concern because of the giant platelets, and platelet aggregation was tested by the agonists ristocetin, epinephrine, adenosine diphosphate (ADP), and collagen before surgery. Ristocetin-induced platelet aggregation was normal, but epinephrine-, ADP-, and collagen-induced platelet aggregation was severely decreased (Fig. ). We ordered platelet preparations for possible intraoperative bleeding. The patient underwent left lower lobectomy and subsequent lymph node sampling by video-assisted thoracoscopy. Intraoperative examination of the frozen section revealed non-small cell lung cancer. The surgery initially was performed without bleeding or other complications; however, just before the chest was closed, oozing from the intercostal muscles was observed, and hemostasis by electrocoagulation could not be obtained. The patient received 20 units of platelet concentrates, and bleeding from the intercostal muscles was controlled thereafter. On histopathology, tumor cells with a very big nucleus were forming a fuller nest and proliferating. Immunostaining of the tumor cells was positive for p40 and CK5/6, but negative for napsin A and TTF-1. The pathological diagnosis of the tumor was poorly differentiated squamous cell carcinoma. The patient’s postoperative course was uneventful and without bleeding complications. He was discharged on postoperative day 10. Two years after surgery, the patient is alive without any signs of lung cancer recurrence. | [[72.0, 'year']] | M | {'28009056': 1, '15167910': 1, '17366593': 1, '21708407': 1, '3107665': 1, '9058730': 1, '26018680': 1, '24656536': 1, '19548919': 1, '30041670': 2} | {} |
1,360 | 6057040-1 | 30,037,336 | comm/PMC006xxxxxx/PMC6057040.xml | A 0.8-cm clear cell neuroendocrine tumor G1 of the gallbladder with lymph node metastasis: a case report | A 64-year-old man presented to our hospital with epigastric pain. He exhibited no hormone-related symptoms, such as flushing, diarrhea, stomach aches, or hypoglycemia, and had no past or family history of VHL disease. On admission, the abdomen was nontender and laboratory data showed mild elevation of liver enzymes (AST, 474 IU/L; ALT, 231 IU/L) and the white blood cell count (11 × 103/μL). Abdominal ultrasonography showed the gallbladder and common bile duct stones and a low echoic nodule in the neck of the gallbladder preoperatively suspected as Rokitansky-Aschoff sinuses (Fig. ). Contrast-enhanced abdominal computed tomography (CT) also revealed gallbladder and common bile duct stones but did not reveal a mass in the neck of the gallbladder. The patient underwent endoscopic sphincterotomy, and common bile duct stones were extracted successfully.\nAlmost 1 month after endoscopic treatment, laboratory data were within normal limits. We did not check the levels of tumor marker, urinary 5-hydroxyindoleacetic acid, or plasma serotonin because neither cancer nor NET was suspected at that time. He underwent laparoscopic cholecystectomy. Macroscopically, the specimen contained a yellowish submucosal nodule, located in the neck of the gallbladder, the size of which was 0.8 × 0.8 cm (Fig. ). Histologic examination revealed nests or trabecular growth of clear cells containing small round-to-oval nuclei with inconspicuous nucleoli (Fig. ) and showing no mitosis. The tumor surface was covered by intact epithelium. Immunohistochemically, tumor cells showed the expression of chromogranin A (Fig. ) and synaptophysin (Fig. ), and a Ki-67 index < 1.0% (Fig. ). Pathologic diagnosis of the tumor was NET G1 according to the WHO 2010 classification and a clear cell variant without VHL disease. The tumor invaded the muscular layer and showed no extension to the perimuscular connective tissue, but had metastasized to a cystic duct node.\nA radical second resection with regional lymphadenectomy of the gallbladder was performed, and histologically there was no metastasis. An R0 resection was confirmed, and he received no adjuvant therapy. After discharge, he was followed up every 1–3 months on an outpatient basis with physical examination, laboratory tests, and/or contrast-enhanced abdominal CT, which showed no evidence of recurrence. He remains alive and well 10 months after the definitive resection. | [[64.0, 'year']] | M | {'12741904': 1, '31037470': 1, '33990639': 1, '18565894': 1, '1535733': 1, '32103876': 2, '26708705': 1, '12725316': 1, '21808296': 1, '26590096': 1, '1157019': 1, '20375728': 1, '11688471': 1, '10690596': 1, '11342771': 1, '31398710': 1, '23205114': 1, '18043250': 1, '33388069': 2, '32269610': 1, '32064098': 1, '21455598': 1, '25206300': 1, '8165988': 1, '9030993': 1, '11960212': 1, '22143420': 1, '30037336': 2} | {'7029351-1': 1, '7778816-1': 1} |
1,361 | 6057066-1 | 30,057,715 | comm/PMC006xxxxxx/PMC6057066.xml | Fusion of permanent teeth as post-traumatic sequelae of trauma in primary dentition: A case report with fifteen years of follow-up | A healthy 5 years-old boy was referred to the Centre for the Study and Treatment of Dental Trauma in Primary Dentition (NETRAD- Federal University of Pelotas, Brazil), after 3 years and 5 month of follow-up in private dental clinic. Reportedly, at 21 month of age, he had experienced a fall from the proper high, while riding his scooter that caused subluxation of the primary right and left maxillary central incisors, and partial intrusive luxation of the primary maxillary right lateral incisor.\nClinical and radiographic examination revealed crown discoloration of both primary maxillary right and left central incisors and the maintenance of the intrusion of the primary maxillary right lateral incisor. Also, mobility of the primary maxillary right central incisor and pulp necrosis of the primary maxillary left central incisor was detected. Endodontic treatment was performed in the primary maxillary left central incisor. Extraction of the primary maxillary right lateral incisor was performed, because of the lack of re-eruption. The patient was oriented to regular follow-up every 6 months.\nBy the time the patient had eight years and 5 months of age, developmental disturbances like hypoplasia and crown dilaceration of the permanent maxillary right central incisor were confirmed, as previously observed radiographically (Fig. ). For aesthetic reasons, restorative treatment was performed with resin composite for both labial and palatal surfaces. After 2 years, in another follow-up assessment, the absence of eruption of the permanent maxillary right lateral incisor was diagnosed and cone bean computed tomography was requested. Bond between the crowns of maxillary right central and lateral incisors through enamel bridge was observed.\nA multidisciplinary treatment plan, involving periodontist, orthodontist and pediatric dentists, was outlined in an attempt to expose the teeth through gingivectomy for the orthodontic traction. During the gingivectomy procedure, an attempt was performed to display the crown of the maxillary right lateral incisor, the junction between the crowns of the maxillary right lateral and central incisor was separated using diamond bur, allowing the bracket bonding for orthodontic traction.\nTraction of the lateral incisor was attempted using brackets and later using cantilever systems. However, due to lack of results through the traction attempts, new cone beam CT was requested and it was noticed that the enamel bridge between central and right lateral incisor still stayed (Fig. ). Thus, periodontal surgery was conducted and complete separation of the enamel bridge was obtained, in an attempt to allow the eruption of the maxillary right lateral incisor. Thereafter, indirect facet in composite resin was made to this element.\nCurrently, the patient is 16 years (Fig. ) and continues in regular clinical and radiographic follow-up. The informed consent of the patient was obtained for this publication. | [[5.0, 'year']] | M | {'23856808': 1, '23991268': 1, '7890101': 1, '19820735': 1, '15709500': 1, '25351433': 1, '21199335': 1, '20831640': 1, '19302202': 1, '17697108': 1, '22583659': 1, '16957796': 1, '28349653': 1, '11203944': 1, '30057715': 2} | {} |
1,362 | 6057077-1 | 30,057,717 | comm/PMC006xxxxxx/PMC6057077.xml | Pseudoaneurysm in internal maxillary artery after \ngunshot wound: Critical review and case report | A 40-year-old male patient came to the hospital emergency after a gunshot lesion in the cervical region. He was conscious, hemodynamically stable, and without signs of active bleeding or cervical spine injuries. Physical examination showed significant edema in the region of the mandibular angle, trismus, restriction of mandibular movements, absence of rhinorrhea or epistaxis, and soft tissue injury compatible with the bullet entrance orifice in the right posterior cervical region without clinical signs of exit bullet orifice.\nComputed tomography showed a comminuted fracture of the coronary and mandibular right ascending branches associated with ipsilateral zygomatic-orbital fracture (Fig. ) and the presence of artifacts compatible with the firearm projectile, suggesting an upward trajectory toward the face (Figs. ,).\nAfter physical and imaging evaluation, vascular surgery and neurosurgery teams opted for conservative treatment. However, the maxillofacial surgery team indicated surgical removal of the bone fragments due to the restrictions of the mandibular movements and removal of the fragments of the projectile due to discomfort and superficialisation in the genic region.\nOn the third day after trauma, under general anesthesia, removal of the bone fragments was initiated by intraoral access in the ascending ramus of the mandible, which evolved intraoperatively with an intense arterial bleeding, incompatible with the surgical procedure. Local compression maneuvers were performed using compresses, attempts to pinch with instruments after local exploration and the use of hemostatics, but they were not enough to contain the bleeding. After failure, it was decided to submit the patient to angiography of the external carotid artery.\nThe examination was performed by percutaneous puncture of the right femoral artery and selective catheterization of the external carotid artery and internal maxillary artery, which verified the presence of an PA (Fig. ) with indication of emergency embolization procedure. Through the catheter, the embolization was performed from the installation of 02 micro-platinum springs until the complete arterial occlusion and consequent end of the blood flow of the PA (Fig. ). The selective angiography of the left internal maxillary artery was then performed in different projections to rule out another possible source of bleeding and the possibility of compensatory revascularization.\nThe patient was transferred and remained under observation for 12 hours in the intensive care unit. A new angiography was performed after 24 hours for control, confirming the complete resolution of the PA. The patient was submitted to a second surgery 72 hours after the hemorrhagic episode when a large part of the bone fragments were removed by intraoral access. Also the palpable and superficial portion of the projectile located in the genic region by infraorbital access was removed.\nThe patient was hemodynamically stable, with no complaints and was discharged after 48 hours, without postoperative bleeding recurrences. He had no more complications after 8 months of follow-up. | [[40.0, 'year']] | M | {'26942333': 1, '9393413': 1, '11709682': 1, '24739746': 1, '27833712': 1, '17368382': 1, '9746094': 1, '19305260': 1, '16903644': 1, '3467038': 1, '15085521': 1, '22855307': 1, '17719403': 1, '34752442': 1, '8113425': 1, '19305254': 1, '8089794': 1, '30057717': 2} | {} |
1,363 | 6057080-1 | 30,057,718 | comm/PMC006xxxxxx/PMC6057080.xml | Use of 3D printed model as an aid in surgical removal \nof a rare occurrence of a compound odontome in the \nanterior mandible associated with impacted teeth | A 12 year old female patient visited the Pediatric dental clinic with the complaint of missing teeth in the anterior region of the jaw (Fig. a). Intraoral Examination revealed clinically missing 31, 32 with patient giving no history of previously extracted teeth. A CBCT (Cone beam computerized tomography) scan revealed the presence of impacted 31 and 32, along with the presence of an odontome (Fig. b,c). The CBCT image also seemed to suggest a cystic lesion present with relation to the impacted teeth. Hence a joint team of pedodontists, oral surgeons, orthodontics and prosthodontists was consulted to formulate a treatment plan. The treatment plan was divided into two phases: An immediate treatment phase consisting of surgical removal of the impacted teeth with enucleation of the cystic lesion; followed by a long term treatment plan of implant placement and orthodontic correction after the patients growth was complete. The patient and her parents were educated about the surgical procedure, its significant risks and advantages and an informed consent was obtained from the parents for carrying out the procedure. In order to assist in surgical planning, it was decided to obtain a 3D model of the patient’s mandible. A 3D printed model (Fig. d) was obtained from the DICOM data of the CBCT scan. The DICOM data was converted into STL file using KISSlicer software and printed using a 3D printer (Medibot Jr ™ by Acton Engineering). A virtual bony window was prepared to expose the cystic lesion associated with the impacted teeth using Osirix software (Fig. d). A castroviejo caliper (Ortho Max, India) was used to accurately measure the dis-tance of the impacted teeth from the alveolar crest on the 3d model (Fig. e). After all the measurements were recorded, the surgical procedure was undertaken under general anesthesia.\nThe patient was subjected to oro-tracheal intubation. Following this, 5 ml of lignocaine with 1:100000 adrenalin was infiltrated into the labial vestibule in relation to teeth 33,32,31,41,42 and 43. A crevicular incision was made from the distal aspect of 33 till the distal aspect of 43. On both sides, vertical releasing incisions were given, and a full thickness mucoperiosteal flap was raised (Fig. a). As per the measurements made on the 3D model (Fig. e), a mini-mally invasive bony window of 5 mm radius was made 10 mm below the alveolar crest (Fig. f). The impacted teeth (31 and 32) including the odontome were exposed and surgically re-moved (Figs. a-e,a). Enucleation of the cystic lesion was carried out in toto, followed by thorough curettage of the surgical defect (Fig. b,c). Following this, 10 ml of blood was derived from the medial cubital vein of the patient’s left arm. It was then transferred into a test tube (without anti-coagulant) and centrifuged (REMI Model R-8c, India) at 3000rpm for 10 minutes to obtain platelet rich fibrin (PRF). After centrifugation, the test tube showed acellular platelet poor plasma in the top portion, PRF clot in the intermediate portion and red blood cells at the bottom portion. PRF was removed from the test tube with the help of a sterile tweezer and placed in a dappen dish. The post-surgical defect was filled with a combination of autogenous scrapes harvested from the chin, xenograft (Geistlich Bio-Oss®) and PRF (Fig. d). Wound closure was done using 4-0 vicryl (Fig. e), following which the patient was extubated une-ventfully. Regular follow ups done at 1 week, 1 month and 3 months showed uneventful wound healing. A CBCT scan taken 1 year later confirmed sufficient regeneration of bone at the site of the defect (Fig. f). The second long term phase of treatment of implant place-ments followed by orthodontic space closure has been planned for after the growth of the pa-tient is complete. | [[12.0, 'year']] | F | {'15573658': 1, '23871811': 1, '22676986': 1, '26015880': 1, '21216634': 1, '24679954': 1, '25206112': 2, '24233187': 1, '15718805': 1, '20881338': 1, '24233186': 1, '22436025': 1, '24288392': 1, '23394423': 1, '30057718': 2} | {'4086559-1': 1} |
1,364 | 6057102-1 | 30,041,689 | comm/PMC006xxxxxx/PMC6057102.xml | Surgical treatment for dropped head syndrome with cervical spondylotic amyotrophy: a case report | A 79-year-old man became aware of paralysis of his left fingers 2 years earlier. He was diagnosed as having cervical spondylotic amyotrophy and underwent a percutaneous endoscopic cervical posterior herniotomy at another hospital. However, after his surgery, his left finger became completely paralyzed. Furthermore, from 6 months after the initial surgery, he became aware of paralysis of his right upper extremity, gait disturbance, and dropped head. One month of conservative treatment using collar immobilization was used at the other hospital. Despite the treatment, his symptoms did not improve, and ultimately he presented to our hospital. He had a history of hypertension and diabetes. At his initial visit, he had a severe chin-on-chest posture (Fig. a). Neurological examination revealed severe paralysis of his right-side deltoid, biceps, wrist extensor, finger flexor (MMT grade 3), finger extensor (MMT grade 2), and abductors (MMT grade 1). By contrast, his left side upper extremity showed almost complete paralysis. The deep tendon reflex was increased at his lower extremity bilaterally, although it was absent at his upper extremity bilaterally. Because of sustained clonus of his ankle joint bilaterally, he had severe spasticity and could not walk unaided. However, sensory dysfunction was not observed. The Japanese Orthopaedic Association (JOA) score was 9.5 points. X-ray images showed severe kyphosis at the upper thoracic level. The center of gravity line from the head to C7 sagittal vertical axis (CGH-C7 SVA), which measured the deviation of the center of gravity of the head-plumb line (extending from the anterior margin or the external auditory canal) was 135 mm. The C2–C7 angle showed 2° lordosis. Otherwise, the C2–Th5 angle showed 38° kyphosis. Pelvic incidence was 44°, lumbar lordosis was 49°, and C7 sagittal vertical axis (C7-SVA) was 0 mm from the whole spine X-ray image. As the result, he had dropped head due to cervical and upper thoracic kyphosis and thoracolumbar sagittal balance was maintained (Fig. ). MRI and CT myelography revealed spinal canal stenosis at the level of C5–6 because of ossification of the posterior longitudinal ligament of the spine and C6 root compression on the right side because of a foraminal osteophyte (Fig. ). Although paraspinal muscle intensities were not observed in MRI, serum CK was increased to 584 (U/L). Electromyography showed chronic denervation at lower cervical level (C5–C8) and myogenic pattern at the paraspinal muscles was not observed that suspected the possibility of secondary myopathy. Parkinsonism was not also observed. Diabetes neuropathy, amyotrophic lateral sclerosis (ALS), myopathy, and Parkinson’s disease were excluded by the neurologist because of nerve conduction velocity and findings from electromyography. From the neurology, imaging, and electromyography findings, we diagnosed the pathogenesis of the DHS in this patient as follows: C5–6 anterior horn damage caused DHS as a consequence of back muscle atrophy at the C7 to upper thoracic levels and paralysis of the right finger; right side C6 anterior root damage caused paralysis of the deltoid and biceps; and the C5–6 pyramidal tract sign caused severe spasticity of the lower extremity bilaterally. Despite conservative treatment by collar immobilization, neither the DHS nor paralysis were improved. Therefore, surgical treatment was chosen. A C2–Th5 posterior fusion with C3–C6 laminoplasty and C5–6 foraminotomy on the right side were performed. Immediately after surgery, the complaint of dropped head was improved significantly and bilaterally finger motion was improved slightly. The neck position was maintained (Fig. b) and the patient could walk using a circular walker mobility aid at the final follow-up 1 year after surgery. The JOA score was improved up to 10.5 points and the recovery rate of JOA was 13%. At the final follow-up, X-ray imaging showed CGH-C7 SVA decreased to 50 mm and C2–Th5 angle increased to 4° lordosis (Fig. ). Unfortunately, the patient died of pneumonia 2 months after the 1 year follow-up. | [[79.0, 'year']] | M | {'19647927': 1, '12700323': 1, '17330586': 1, '25217239': 1, '16703588': 1, '31607092': 1, '8780064': 1, '33674300': 1, '26445933': 2, '23001450': 1, '23203936': 1, '33489397': 2, '27335311': 1, '27034870': 2, '21247445': 2, '30041689': 2} | {'7787856-1': 1, '3037290-1': 1, '4808527-1': 1, '4596507-1': 1, '4596507-2': 1} |
1,365 | 6057103-1 | 30,041,615 | comm/PMC006xxxxxx/PMC6057103.xml | Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly | The proband (II.1), a 22-year-old male, was the eldest son of three children born to 1st degree consanguineous parents of Sri Lankan origin (Fig. ). Pregnancy and delivery were uneventful. He was diagnosed to have bilateral postaxial oligodactyly limited to upper limbs at birth. Radiological studies showed bilateral fusion of the 4th and 5th metacarpal bones (Figs and ). He has no noticeable facial dysmorphism, renal impairments or cognitive impairments. The second child (II.2), a 16-year-old boy, was normal. The youngest child (II.3), a 13-year-old girl, also has postaxial oligodactyly (Fig. ) and a few mild facial dysmorphic features. Both patients do not show visible lower limb deformities or oligodactyly. By whole exome sequencing of the proband, we identified a deleterious homozygous mutation in LRP4 c.1348A > G, p.Ile450Val. Mutations in this gene were reported to cause CLS syndrome. | [[22.0, 'year']] | M | {'9182770': 1, '18978656': 1, '27776117': 1, '23636941': 1, '20005801': 1, '22333904': 1, '19561590': 1, '19858363': 1, '4298043': 1, '20381006': 1, '22290330': 1, '29524275': 1, '20354512': 1, '12868467': 1, '15710123': 1, '4843792': 1, '32933589': 2, '30041615': 2} | {'7493856-1': 1} |
1,366 | 6057141-1 | 30,050,362 | comm/PMC006xxxxxx/PMC6057141.xml | Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation | The patient was an Asian 10-month-old male (individual II-3 in ) who was bom full term with a birth weight of 3.75 kg (66 percentile). His parents were half-first cousins and had 2 healthy daughters (). The proband had mild contractures in major joints at birth but was otherwise noted to be healthy. At 5 months of age, his joint contractures had progressively worsened and were associated with pain in his wrists, elbows, shoulders, hips, knees, and ankles. Concurrently, he developed dark brown/black spots on his knuckles, ankles, back, and neck. Initially, arthrogryposis was suspected, and so he received physical therapy, which resulted in a femur fracture. At that time, he also developed persistent protein-losing enteropathy with significant weight loss. He came to the USA for additional medical care at the age of 10 months. According to the family, there were no other family members who had similar symptoms as the patient.\nOn presentation, the most striking features were the severe malnutrition (5 kg; <3 percentile) and constant irritability. On physical examination, significant joint contractures of the wrists, knees, hips, and ankles were noted (). Oral mucosa demonstrated gingival hyperplasia (). There were generalized sclerodermatous changes of the skin, most prominently in the left lower extremity ( ). Skin was significant for pearly, erythematous papules and indurated plaques located symmetrically on the back (). Similar indurated plaques that were more erythematous than violaceous were also seen on the posterior scalp (). The perianal area revealed multiple coalescent skin-colored, indurated papules involving the perineum ( ). Due to long-standing malnutrition, the child had multiple electrolyte abnormalities including a nonanion gap acidosis, hyponatremia, hyperkalemia, and hypoalbuminemia.\nA biopsy was obtained from one of the violaceous, indurated plaques on the infant’s back, and histopathologic analysis revealed an amorphous eosinophilic, hyaline material with spindle cells deposited in the superficial and deep dermis consistent with ISH (). Some of the cells in the hyaline material appeared to lie in lacunae, giving it a chondroid-like appearance (). The deposits were Periodic acid-Schiff staining positive (), diastase resistant, and did not stain with Alcian blue. No elastic fibers were identified on a Verhoeff’s Van Gieson stain (). These findings were consistent with ISH.\nTo confirm the diagnosis, we sequenced all 17 coding exons and intron/exon boundaries, of the ANTRX2 gene using genomic DNA isolated from the patient and his mother. A homozygous 2-bp TG deletion in exon 14, which predicted a frameshift mutation, c. 1127_1128delTG (p.V376Gfs* 14), was identified in the patient. Consistent with her presumed carrier status, the mother was heterozygous for the ANTRX2 mutation ( and ). The father’s sample was not available for analysis. Written informed consent for publication of the patient’s clinical information, including photographs, was obtained from the patient’s parents. | [[10.0, 'month']] | M | {'14726869': 1, '22498585': 1, '33147779': 2, '22383261': 1, '22300424': 1, '11683410': 1, '17043134': 1, '27535533': 1, '23386947': 1, '21328543': 1, '14508707': 1, '23734713': 1, '22042284': 1, '19617532': 1, '19592224': 1, '22215446': 1, '25186005': 2, '23554269': 1, '20331448': 1, '12973667': 1, '31448094': 1, '30050362': 2} | {'4158768-1': 1, '7662532-1': 1, '7662532-2': 1} |
1,367 | 6057278-1 | 30,073,101 | comm/PMC006xxxxxx/PMC6057278.xml | Nivolumab-Induced Autoimmune Encephalitis in Two Patients with Lung Adenocarcinoma | A 66-year-old Caucasian woman with stage IIIb lung adenocarcinoma developed right hemiballismus and dysarthria following four months of nivolumab administration. The hemiballismus then evolved to bilateral ballismus in all extremities over a two-week period. Neurologic examination revealed hypophonic and dysarthric speech, orobuccolingual dyskinesias, and severe bilateral arm and leg ballismus.\nInitial brain magnetic resonance imaging (MRI) with and without gadolinium showed symmetric T2 hyperintense and T1 hypointense basal ganglia abnormalities [Figures and ]. Cerebrospinal fluid (CSF) analysis demonstrated a normal cell count and glucose level, a mildly elevated protein concentration of 56mg/dL (15-50mg/dL), and negative cytology. There were 16 oligoclonal bands present in the CSF compared to 2 in the serum. A CSF paraneoplastic antibody assay revealed a novel, unclassified antibody. A repeat brain MRI three weeks later redemonstrated symmetric T2 hyperintense basal ganglia but with a transition to T1 hyperintensities in the same location [Figures and ].\nDespite the consensus of an immune-mediated etiology, the patient was refractory to 5 days of intravenous (IV) methylprednisolone (1000mg/day) and 5 plasma exchanges. Haloperidol and olanzapine also did not offer symptomatic relief. She continued to decline despite subsequent trials of IV immunoglobulin (IVIg) (total dose of 2.5g/kg), prednisone, rituximab (1000mg once), and tetrabenazine (20mg, 3x/day). Due to continued clinical decline, she was eventually transitioned to comfort-only care and inpatient hospice. | [[66.0, 'year']] | F | {'33362680': 1, '28666240': 1, '29290265': 1, '28363334': 1, '33854755': 1, '33977307': 1, '29139554': 1, '22437870': 1, '28626408': 2, '26371282': 1, '33897597': 1, '25609381': 1, '29320654': 1, '11696564': 1, '33778750': 1, '28063151': 1, '32456344': 1, '34326741': 2, '30619952': 1, '34527106': 2, '34515815': 1, '30680206': 1, '28495807': 1, '30073101': 2} | {'6057278-2': 2, '8299396-1': 1, '5471763-1': 1, '8425809-1': 1} |
1,368 | 6057278-2 | 30,073,101 | comm/PMC006xxxxxx/PMC6057278.xml | Nivolumab-Induced Autoimmune Encephalitis in Two Patients with Lung Adenocarcinoma | A 44-year-old Caucasian woman with type 1 diabetes mellitus (DM1) diagnosed at age 30 and stage IV lung adenocarcinoma treated with 5 cycles of nivolumab (3 mg/kg, every 2 weeks) developed several days of progressive altered mental status, nausea, and vomiting. She then presented to the emergency department following a first time seizure. Upon initial evaluation, she exhibited abnormal tongue movements, inappropriate laughter, and rhythmic movements of her right arm that improved with lorazepam.\nAn electroencephalogram revealed left temporal slowing and frequent interictal discharges. Brain MRI with and without gadolinium demonstrated T2 signal hyperintensities of the bilateral mesial temporal lobes compatible with limbic encephalitis. Additionally, there were 2 enhancing foci within the left occipital and right temporal lobes, concerning for metastatic disease []. CSF analysis detected 19 nucleated cells (97% lymphocytes) and normal protein and glucose levels. There were 7 oligoclonal bands in the CSF and 3 in the serum. CSF cytology was negative. A CSF autoimmune encephalitis panel (Mayo Medical Laboratories) demonstrated the presence of glutamic acid decarboxylase 65-isoform (GAD65) antibodies: 2.70nmol/L (<= 0.02nmol/L). Serum GAD65 antibodies were also detected: 275nmol/L (<= 0.02nmol/L).\nThe patient was diagnosed with GAD65 antibody positive autoimmune encephalitis. She received IV methylprednisolone (1000mg/day) for 5 days followed by 5 plasma exchanges. However, she continued to experience refractory seizures despite treatment with multiple antiepileptic drugs and developed worsening ataxia, vertigo, and gait impairment. Therefore, she was given IV rituximab (1000mg) during the hospitalization. Upon discharge, seizures were under control and mental status improved. The patient currently receives maintenance rituximab (1000mg) every 6 months and remains seizure-free but with severe residual vertigo and moderate gait ataxia. Her most recent brain MRI demonstrated interval resolution of enhancing foci and abnormal T2 signal in the temporal lobes []. Following discontinuation of nivolumab, she was transitioned to brigatinib (a multikinase inhibitor with activity against anaplastic lymphoma kinase (ALK) as well as EGFR deletions and point mutations) for lung cancer treatment and remains oncologically stable. | [[44.0, 'year']] | F | {'33362680': 1, '28666240': 1, '29290265': 1, '28363334': 1, '33854755': 1, '33977307': 1, '29139554': 1, '22437870': 1, '28626408': 2, '26371282': 1, '33897597': 1, '25609381': 1, '29320654': 1, '11696564': 1, '33778750': 1, '28063151': 1, '32456344': 1, '34326741': 2, '30619952': 1, '34527106': 2, '34515815': 1, '30680206': 1, '28495807': 1, '30073101': 2} | {'6057278-1': 2, '8299396-1': 1, '5471763-1': 1, '8425809-1': 1} |
1,369 | 6057280-1 | 30,073,110 | comm/PMC006xxxxxx/PMC6057280.xml | An Interesting Case of Neurobrucellosis Mimicking Neuropsychiatric Lupus | A 50-year-old male with no past medical history presented to the hospital with one week of painless blurry vision of the right eye. He had also been having intermittent fevers, headache, body aches, and a nonpruritic maculopapular rash on the bilateral lower extremities for 6 months. On further review of systems, the patient noted one isolated episode of left knee swelling as well as testicular swelling in the past. The patient otherwise denied any neck stiffness, nausea, vomiting, Raynaud's phenomenon, oral ulcerations, chest pain, shortness of breath, abdominal pain, or photosensitivity. He worked as a flooring installer, and he did not have any toxic habits such as smoking, drinking, or illicit drug use.\nThe patient's vital signs were normal. On physical exam, the patient was found to have bilateral papilledema and optic nerve erythema, right greater than left, right inferior nasal quadrant visual field defect, and a right afferent pupillary defect. Muscle strength was 5/5 throughout, and reflexes were 2+ throughout. Sensation to light touch, pinprick, vibration, and proprioception was intact. The bilateral lower extremities demonstrated a maculopapular rash ().\nThe admitting labs were notable for a microcytic anemia (Hb 11.6 gm/dL (ref 13.6–17.3); Hct 35.3% (ref 39.8–50.7); MCV 76.9 fL (ref 80.3–98.1)), hyponatremia (133 mmol/L (ref 136–144)), elevated ESR (33 mm/hr (ref 0–15)), and elevated CRP (13.3 mg/L (ref 0.0–7.0)). Urinalysis did not show protein or blood. Lumbar puncture was colorless/clear with 2/cumm RBC (ref 0), 56/cumm WBC (ref 0–9), 39% segmented neutrophils (ref 0–2), 53% lymphocytes (ref 40–80%), 30 glucose (ref 40–70), 69 protein (ref 15–45), with presence of oligoclonal bands, an elevated IgG index (+19.8 mg/24 hr (ref −9.9 to +3.3)), and normal opening pressure (16 cm H20 (ref 10–25 cm H20)). The initial CT scan of brain and orbits demonstrated no acute intracranial process, and the MRI of the orbits was also unremarkable.\nGiven the patient's history of fever, myalgia, rash, and joint pain with CSF studies showing both a neutrophilic and lymphocytic pleocytosis, there was concern for infectious etiologies, including both bacterial and viral infections, as well as autoimmune etiologies. The differential diagnoses included neuromyelitis optica, multiple sclerosis, neuropsychiatric SLE, HIV, syphilis, tuberculosis, coccidioidomycosis, cryptococcus, Lyme, and West Nile virus.\nFurther investigation was pursued to work up the aforementioned etiologies, and the patient was found to have a positive double-stranded DNA (>1 : 640), low C4 (10 mg/dL (ref 16–47)), low CH50 (13 U/mL (ref 31–60)), normal C3, negative ANA by immunofluorescence assay (repeated twice) and negative anti-Sm/RNP, anti-SSA/B, Coombs antibody, anti-beta2 glycoprotein, anticardiolipin, and lupus anticoagulant. ANCA, ACE, and cryoglobulin were negative. Rheumatoid factor was positive (38 IU/mL (ref < 14)). The infectious disease service was consulted, and the infectious workup including HIV, hepatitis antibodies, cocci antibodies, RPR, cryptococcus antibodies, Lyme antibodies, West Nile virus antibodies, and Quantiferon Gold were all negative. CSF cultures showed no growth. Skin biopsy of the lower extremity rash was done, pending results.\nThe presence of a high-titer positive double-stranded DNA antibody raised concern for an autoimmune etiology, although in the setting of a negative ANA the validity of the dsDNA titer was questioned with a high concern for a false-positive test. Given the lack of other findings to suggest autoimmune disease, the rheumatology service requested additional studies. Given the negative infectious workup to date, the neurology service recommended initiation of pulse corticosteroids with methylprednisolone 1,000 mg intravenous daily for which the patient received 2 doses, with improvement in his symptoms, which was then followed by oral prednisone taper.\nApproximately one week later, the patient returned to the hospital with acute onset right arm weakness and numbness. On physical exam, the patient was found to have 4/5 muscle strength in the right upper extremity with decreased sensation to light touch over the fourth and fifth digits of the right hand. MRI of the brain showed multiple subacute infarcts in the left parietal lobe (). CT angiogram of the brain was negative. Furthermore, the results of skin biopsy had returned demonstrating leukocytoclastic vasculitis (). With these new clinical, radiographic, and pathologic findings, there was concern for a CNS small vessel vasculitis possibly secondary to SLE given satisfaction of SLICC criteria which included low C4 and low CH50, high-titer double-stranded DNA, maculopapular rash of the lower extremities, and bilateral papilledema and erythema resulting from cranial neuropathy of the optic nerves. SLICC criteria require that there be greater than or equal to 4 criteria met including at least 1 clinical and 1 laboratory criteria. The patient's history of knee swelling also raised concern for synovitis, although this did not meet the SLICC criteria explanation for synovitis as our patient demonstrated swelling in only one joint, and SLICC criteria require synovitis in two or more joints. Other etiologies such as embolic phenomenon from endocarditis or paraneoplastic syndrome were considered; as a result, blood cultures were sent, and ECHO was done showing no valvular vegetations. Blood cultures had shown no growth × 5 days. As a result of the above workup, the patient was given a working diagnosis of neuropsychiatric SLE (NPSLE) with new onset neurologic changes, and he was treated with pulse dose methylprednisolone 1 gram for a total of five days with prednisone taper as well as one induction dose of intravenous cyclophosphamide 1,000 mg.\nAfter the patient was discharged, the blood cultures that had been initially reported as no growth, were later found to have 2/4 bottles positive for Gram-variable bacteria. The cultures were sent to Public Health for confirmation, and the organism was speciated as Brucella melitensis by PCR. Subsequently, the patient was readmitted to the hospital and confirmed to have positive Brucella serologies including total antibody titer (1 : 320 (ref < 1 : 80)), IgG (6.99 (ref < 0.80)), and IgM (1.42 (ref < 0.80)). Brucella bacteremia, positive Brucella serum serologies, and clinical presentation with subacute stroke were all consistent with a diagnosis of neurobrucellosis. On further history, the patient noted to have eaten unpasteurized cheese in Mexico 6 months prior which was thought to be the source of infection. The corticosteroids were tapered off, no further doses of cyclophosphamide were given, and the patient was given four weeks of intravenous ceftriaxone as well as three months of oral doxycycline and rifampin.\nOn follow-up, the patient's serum Brucella IgM became negative, repeat blood cultures showed no growth, and repeat lumbar puncture demonstrated resolution of pleocytosis. The patient's symptoms of weakness, blurry vision, headaches, intermittent fevers, and body aches resolved. The patient's visual acuity returned to normal, and the papilledema resolved, but the patient was noted to have some residual optic nerve atrophy. | [[50.0, 'year']] | M | {'21412590': 1, '18154418': 1, '3309909': 1, '15037461': 1, '22032507': 1, '28144188': 1, '26781780': 1, '15930423': 1, '16651018': 1, '16914346': 1, '19428283': 1, '27138335': 1, '16857626': 1, '21772948': 1, '27555982': 1, '23446629': 1, '18520109': 1, '15020332': 1, '22827786': 1, '19910232': 1, '30073110': 2} | {} |
1,370 | 6057284-1 | 30,069,419 | comm/PMC006xxxxxx/PMC6057284.xml | Ovarian Torsion after Hysterectomy: Case Report and Concise Review of the Reported Cases | A 41-year-old woman, gravida 3, para 3, was admitted to our institution with a 12-hour history of acute onset pelvic pain, nausea, and vomiting. She had undergone total laparoscopic hysterectomy 2 years previously. The abdominal exam revealed mild distention and tenderness over the right lower quadrant. Vaginal examination revealed exquisite pain in the right vaginal fornix and the finding of a painful adnexal mass in the rectovaginal pouch of Douglas. Transvaginal ultrasonography showed a 60-mm cystic lesion in the right ovary with moderate ascites. We performed an exploratory laparoscopy and found a right adnexal torsion () and a right adnexectomy was successfully performed. Since the left ovary was normal a left ovariopexy was also performed. | [[41.0, 'year']] | F | {'17077238': 1, '28250728': 1, '19012702': 1, '18509861': 1, '34007376': 1, '20569542': 1, '26759694': 1, '19853252': 1, '26212687': 1, '16737836': 1, '15108105': 1, '15559344': 1, '11468611': 1, '20226409': 1, '30069419': 2} | {} |
1,371 | 6057286-1 | 30,073,107 | comm/PMC006xxxxxx/PMC6057286.xml | Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations | A 3-month-old Japanese boy was admitted because of poor body weight gain, vomiting, and fever that had persisted for one week. He was born as a full-term infant with no complications during pregnancy.\nAt the time of admission, he had polyuria with a urine volume of 700–800 mL/d. Results of laboratory examinations are shown in . Findings of brain magnetic resonance imaging (MRI) were normal. Based on the polyuria and the high serum ADH level, the infant was diagnosed as having NDI, and hydrochlorothiazide was initiated. Spironolactone and potassium supplementation was added when he was 2 years old and 4 years old, respectively, and indomethacin and a protein-restricted diet were initiated when he was 6 years old. He is currently 13 years old. His height is 150 cm (−0.8 SD), and his weight is 37 kg (−0.6 SD). His urine volume is approximately 7 L/day. He has mild hydronephrosis in the right kidney. His mother is asymptomatic. The family tree of Case 1 is shown in . | [[3.0, 'month']] | M | {'25324589': 1, '33882907': 2, '11129333': 1, '11916004': 1, '22386940': 1, '32925747': 2, '25902753': 1, '1534149': 1, '26077742': 1, '8037205': 1, '31577731': 1, '10477148': 1, '22144672': 1, '23150186': 1, '16093448': 1, '10770218': 1, '18097476': 1, '17020465': 1, '18323675': 1, '10820167': 1, '27156763': 1, '19816050': 1, '16006591': 1, '18726898': 1, '1281384': 1, '30073107': 2} | {'8061024-1': 1, '7489606-1': 1} |
1,372 | 6057300-1 | 30,073,028 | comm/PMC006xxxxxx/PMC6057300.xml | Incidental Finding of Left Ventricular False Chamber: Diagnostic and Therapeutic Implications | A 75-year-old man with history of percutaneous coronary intervention of proximal and distal left anterior descending (LAD) for inferolateral non-ST-elevation myocardial infarction six months earlier presented to our department for clinical follow-up. He was asymptomatic and was hospitalized due to recurrent fever four months earlier. Meningoencephalitis was suspected, but all tests were negative.\nTransthoracic echocardiography showed a fluid-filled chamber arising from the posterolateral wall of the left ventricle, immediately below the mitral annulus (Figures and ); through the 3D echo, the left atrium and the chamber are seen paired (). Severe mitral regurgitation and mild pericardial effusion were also evident. Laboratory parameters were unremarkable. Transesophageal echocardiography revealed a large submitral pseudoaneurysm (34 × 61 × 50 mm) communicating with left ventricle and left atrium through a single neck (, arrows). Severe mitral regurgitation was due to partial detachment of mitral annulus.\nMagnetic resonance imaging (MRI) demonstrated systolic blood flow entering the pseudoaneurysm from the left ventricle and through the cavity into the left atrium (, ). Coronary angiography showed patency of LAD stents; contrast ventriculography confirmed the large pseudoaneurysmal cavity (, arrow).\nThe patient was referred to surgery (Figures and ) which showed partial annular detachment as well as perforation of the posterior mitral leaflet at P1 scallop. Additionally, a large abscess with presence of pus was identified inside the cavity on the ventricular side of the mitral annulus, thus confirming an infective aetiology. The patient underwent surgical resection of the pseudoaneurysm and, due to the large perforation of P1, mitral valve replacement with a biological prosthesis (29 mm St. Jude). Implantation of the mitral prosthesis was performed through “U” stitches on pledgets surrounding at the level of the cavity its inferior and superior rim. Thus, complete obliteration of the abscess cavity was achieved.\nBlood cultures, markers, and viral serology were negative. The postoperative period was uneventful, and the patient was discharged without complications. | [[75.0, 'year']] | M | {'28951083': 1, '1638704': 1, '22427390': 1, '1597234': 1, '10969679': 1, '13859018': 1, '9741493': 1, '9149600': 1, '10671344': 1, '26320109': 1, '9471934': 1, '30073028': 2} | {} |
1,373 | 6057302-1 | 30,073,109 | comm/PMC006xxxxxx/PMC6057302.xml | Abernethy Malformation Type II and Concurrent Nodular Hyperplasia in a Rare Female Case | A 10-year-old female visited the emergency room of our hospital with right upper quadrant abdominal pain for 8 days that was not associated with eating. No fever, jaundice, emesis, diarrhea, or melena was reported. Initial blood tests and liver function test revealed no abnormalities other than mild elevation of cytomegalovirus IgG antibody (23.7 U/ml). A routine urine test was positive for red blood cells (3+, 294.8/μl) and white blood cells (3+, 422.9/μl). Alpha-fetoprotein and cancer embryonic antigen were negative, whereas cancer antigen 19-9 was elevated (247.25 U/ml, normal level 2-37 U/ml).\nUltrasound examination exhibited a mass measuring 78 x 71 mm in the right liver with abundant blood signals. No obvious portal venous trunk and branches were noted in the liver but the superior mesenteric vein and splenic veins drained directly into the inferior vena cava. The left hepatic vein and middle hepatic vein conjoined together and then drained to the inferior vena cava. Abdominal enhanced CT with multiplanar reconstruction revealed that the splenic vein and superior mesenteric vein drained directly into the inferior vena cava after confluence (Figures and ), and only two branches of hepatic veins drained into the inferior vena cava. A barely perceptible small branch of the portal vein measuring 3 mm supplied the left lobe of the liver (). In addition, a mass was noted in hepatic segment 5, approximately 55 mm in size and poorly demarcated. Arterial phase of enhancement showed mildly heterogeneous enhancement (), while portal venous and delayed phases demonstrated iso- to hypoattenuating. Abernethy malformation (type II) and concurrent hepatocellular carcinoma or hepatoblastoma were suspected.\nThe liver donor from a close relative was examined comprehensively and the transplantation for this suffered child was conducted 1 month after diagnosis. Surgical findings demonstrated a mass occupying the right liver measuring 60 mm in diameter. No remarkable liver cirrhosis was noted. The superior mesenteric vein and splenic vein merged together and drained directly to the inferior vena cava. A faintly visible branch vessel measuring 3 mm dominated the left lobe of the liver; no veins supplied the left medial lobe and the right lobe of the liver. A left lobe of liver was donated from a close relative. Considering that the donor liver weighed only 250g and the ratio of donor liver to recipient weight was 0.83, an auxiliary piggyback liver transplantation method was conducted. The allogeneic iliac vein was adopted to reconstruct the left branch of the recipient portal vein and the left hepatic vein. Then, the hepatic vein was anastomosed to the recipient vena cava. The right hepatic artery of the recipient and the left lobe of the donor liver were anastomosed with the allogeneic iliac artery. The left hepatic duct, the ductus cysticus, and the biliary tree of the donor liver were also reconstructed by end-to-end anastomosis. Meanwhile, the diseased right lobe of the liver was resected. Two years after the transplantation, physical examination as well as CT and MR imaging showed the patient was in a satisfactory condition (Figures and ); the transplanted liver was practically normal in contour and signal intensity. The child is still alive at present, 4 years after surgery.\nMicroscopically, the lesion was in nodular appearance without feeding hepatic veins. Abnormal hepatic lobules and distorted bile ducts scattered throughout the mass, with increased amount of fibrous connective tissues and chronic inflammatory cells. Some hepatocytes were characterized by hydropic degeneration, cholestasis, and regeneration (Figures and ). Portal spaces exhibited an absence of veins and were replaced by chronic inflammatory cell infiltration, with 3 lymph nodes featuring reactive hyperplasia. The final pathological diagnosis was congenital extrahepatic portal-systemic shunt and coexisting nodular hyperplasia. | [[10.0, 'year']] | F | {'9094026': 1, '25770392': 1, '28727971': 1, '27467369': 1, '26459734': 1, '28425418': 1, '7807356': 1, '27227347': 1, '30073109': 2} | {} |
1,374 | 6057308-1 | 30,073,102 | comm/PMC006xxxxxx/PMC6057308.xml | Unilateral Upper Cervical Posterior Spinal Cord Infarction after a Neuroendovascular Intervention: A Case Report | A 70-year-old male with medical history of hypertension, dyslipidemia, strokes, initially presented to the Neurology clinic with new transient episodes of gait disturbance, left-sided dysmetria, intermittent diplopia, and vertigo. His symptoms were attributed to recurrent transient ischemic attacks involving the posterior circulation. Computed tomography angiogram (CTA) of the neck showed moderate left vertebral artery (VA) V4 and origin stenoses. His symptoms persisted despite being on aspirin, clopidogrel, and atorvastatin. After 4 months, a repeat CTA neck showed progression of left VA stenoses with development of a V4 segment intraluminal thrombus (). He was started on oral anticoagulation for 2 weeks without symptoms improvement; therefore, a decision was made to proceed with elective cerebral angiogram with the intent to treat the left VA origin.\nCerebral angiogram one week later showed 90% left VA origin stenosis and distal V4 segment occlusion. Final angiography following left VA angioplasty revealed markedly improved VA flow, and 50% remaining stenosis of the proximal left VA.\nA few hours postoperatively, the patient developed new onset left upper extremity dysmetria and paresthesia that resolved after 10 minutes. He was discharged from the hospital after 2 days without needing physiotherapy. On the following day, he returned to the emergency room with left hemibody paresthesia and gait unsteadiness. MRI brain showed acute posterior upper cervical cord infarction, confirmed with a dedicated MRI cervical spine (). CTA neck showed no restenosis of the left VA origin and patent V4 segment with resolution of previously seen thrombus (). His physical examination revealed decreased vibration and proprioception and dysmetria on the left upper and lower extremities, with positive Babinski sign ipsilaterally, and no loss of temperature or pain sensations. He was discharged home the following day with the plan to continue aspirin and clopidogrel and outpatient physiotherapy.\nThree months later, the patient reported resolution of left hemibody paresthesia, with mild residual left-hand coordination difficulties and gait imbalance. | [[70.0, 'year']] | M | {'28680502': 1, '20397450': 1, '24090478': 1, '2757065': 1, '15972868': 1, '27012218': 1, '5467888': 1, '32733721': 2, '9504495': 1, '24355157': 1, '8757000': 1, '12389137': 1, '34557153': 2, '30073102': 2} | {'8452862-1': 1, '7378619-1': 1} |
1,375 | 6057316-1 | 30,073,100 | comm/PMC006xxxxxx/PMC6057316.xml | A Case of Relapsing Peritoneal Dialysis-Associated Peritonitis by Dokdonella koreensis | A 63-year-old Chinese male with end-stage renal failure secondary to reflux nephropathy had been undergoing continuous ambulatory PD for the past two years. He had an episode of PD catheter exit-site infection with Staphylococcus aureus and Corynebacterium species a year ago that was treated with antibiotics. He first presented to the PD centre with a two-day history of cloudy peritoneal effluent and mild intermittent colicky right-sided abdominal pain. He was afebrile and did not report any vomiting or diarrhoea. He frequently performs gardening but did not recall any episode of sterile technique breach while performing the peritoneal dialysis exchanges.\nOn physical examination, the PD catheter exit-site was clean without any discharge expressed. There was also no tunnel tract tenderness and overlying erythema. The white cell count of the peritoneal effluent was 1.6 × 109/L with 63% neutrophils. Gram stain showed polymorphonuclear leukocytes 2+ but no organisms. Peritoneal effluent culture yielded Weeksella virosa that was sensitive to amikacin. The patient was managed as an outpatient with intraperitoneal (IP) vancomycin and amikacin initially as per the institution protocol which was subsequently adjusted to complete a two-week course of IP amikacin. In the institution, peritonitis caused by single Gram-negative organism which improves with antibiotics are treated for two weeks as recent studies using registry data reported that the cure rate of peritonitis did not differ between patients who were treated for ≤two weeks and those who were treated for >two weeks [, ]. The peritoneal effluent white cell count normalized within four days of treatment.\nTen days after stopping amikacin, however, the patient presented to the PD centre again with cloudy peritoneal effluent and abdominal pain. The PD catheter exit-site was clean. Peritoneal effluent white cell count had risen to 6.9 × 109/L with 74% neutrophils. Gram stain of the peritoneal effluent again showed polymorphonuclear leukocytes 3+ but no organisms, whereas culture yielded Brevundimonas species that was sensitive to amikacin. He was diagnosed with recurrent peritonitis, which was defined as an episode that occurs within 4 weeks of completion of therapy of a prior episode but with a different organism []. He was started on another course of IP amikacin with resolution of symptoms and the peritoneal effluent white cell count decreasing to 0.3 × 109/L within three days.\nTwo days following the completion of the second course of amikacin, the patient presented yet again with cloudy peritoneal effluent and right-sided colicky abdominal pain. He admitted to a breach in the sterile technique. There was no fever and no pus at the PD catheter exit-site. The decision was then made to admit him for treatment and investigation of the recurrent peritonitis as an inpatient. On admission, the white blood cell count was 7.34 × 109/L, C-reactive protein was elevated at 77.3 mg/L, and the peritoneal effluent white cell count was 2.3 × 109/L with 82% neutrophils. Computed tomography of the abdomen and pelvis did not show any intra-abdominal abscess or collection. The repeat culture of the peritoneal effluent yielded Dokdonella koreensis that was sensitive to amikacin. Cultures for fungi and acid-fast bacilli were negative. He was advised to remove the PD catheter and convert temporarily to hemodialysis in view of the recurrent peritonitis, but he declined catheter removal despite being informed of the consequences of prolonged attempt to treat recurrent peritonitis without catheter removal, which included extended hospitalization, damage to the peritoneal membrane, increased risk of fungal peritonitis, and mortality. He responded to IP amikacin with the peritoneal effluent white cell count normalizing within five days. The sterile technique was reinforced to him, and he was discharged to complete the course of IP amikacin.\nThree days after completing the third course of amikacin, the patient was admitted again with cloudy peritoneal effluent and abdominal pain. He claimed adherence to the aseptic technique for dialysis exchange and again declined catheter removal. Peritoneal effluent culture grew Dokdonella koreensis that was sensitive to amikacin. The peritoneal effluent white cell count normalized within six days of commencing IP amikacin for the relapsing peritonitis, which was defined as an episode that occurs within 4 weeks of completion of therapy of a prior episode with the same organism or one sterile episode [].\nAfter hospital discharge, the patient was admitted yet again within two weeks for a traumatic hip fracture and was found at the same time to have raised peritoneal effluent white cell count of 1.6 × 109/L. Repeat cultures this time had no bacterial growth. It was during this inpatient admission and about three months after his initial presentation to the clinic that he finally agreed to remove the PD catheter and temporarily convert to hemodialysis. He remains well to this date, and his long-term dialysis options will be revisited in a few months' time.\nPeritoneal effluent was first inoculated into a blood culture bottle which was incubated for 24 hours at 35°C in O2 before it was plated onto 5% sheep blood agar. After 48 hours of incubation at 35°C in 5% CO2, small flat yellow circular colonies were seen (). Gram stain of these colonies showed Gram-negative bacilli. The organism was an obligate aerobe. It was oxidase positive, catalase positive, and nonmotile (). No reliable identification was given via matrix-assisted laser desorption ionization—time of flight mass spectrometry (MALDI-TOF MS), but it was identified as Weeksella virosa by the API 20 NE and Brevundimonas species by the VITEK 2 GN ID card. In view of the discordant bacterial identification results from the API 20 NE and the VITEK 2 GN ID card, 16S rRNA gene sequencing was performed which subsequently identified the organism as Dokdonella koreensis. Antimicrobial susceptibility testing was done using the Etest® which found the organism susceptible to various antibiotics such as amikacin, levofloxacin, ciprofloxacin, piperacillin-tazobactam, cefepime, and meropenem (minimum inhibitory concentration values of 8 g/L, 0.125 g/L, 0.5 g/L, 0.5 g/L, 0.25 g/L, and 0.032 g/L, resp.) []. | [[63.0, 'year']] | M | {'25371687': 2, '2719024': 1, '17122001': 1, '29437143': 1, '28369412': 1, '10641776': 1, '2663034': 1, '8915978': 1, '16403879': 1, '23161042': 1, '21719685': 1, '24175248': 1, '20378843': 1, '23998251': 1, '26405797': 1, '11887824': 1, '28698253': 1, '9264012': 1, '2073094': 1, '27282851': 1, '22661672': 1, '30073100': 2} | {'4211348-1': 1} |
1,376 | 6057319-1 | 30,069,421 | comm/PMC006xxxxxx/PMC6057319.xml | Management of Bilateral Ectopic Pregnancies after Ovulation Induction Using Unilateral Salpingectomy and Methotrexate for the Remaining Ectopic with Subsequent Intrauterine Pregnancy | A 32-year-old G2P0020 healthy Caucasian female initially presented to our institution for outpatient evaluation and management of secondary infertility. Her obstetric history was notable for two first-trimester miscarriages that were both managed expectantly. The couple's infertility evaluation revealed normal ovarian reserve testing and semen-analysis parameters with an unremarkable hysterosalpingogram (HSG) study, and they were diagnosed with unexplained infertility. The patient underwent ovulation induction with clomiphene citrate and HCG trigger with timed intrauterine insemination (IUI) using her partner's sperm. In the weeks following IUI, the β-hCG level rose appropriately from 641 to 971 in 48 hours. One week later, the β-hCG level rose to 3,448 and TVUS revealed a small, irregularly shaped gestational sac in the uterus without a clear yolk sac or evidence of a fetal pole. The right adnexa appeared to have two corpus luteal cysts. Of note, no free fluid was identified in the cul-de-sac and the patient was asymptomatic at that clinic visit. The plan was for a repeat β-hCG level and TVUS in 48 hours.\nThe patient subsequently presented to the emergency room the following morning with diffuse lower abdominal pain and vaginal bleeding. TVUS identified what appeared to be a corpus luteal cyst in the right ovary () and a likely ectopic pregnancy in the left adnexa () with a small amount of complex free fluid within the cul-de-sac. Her abdominal exam was significant for involuntary guarding of the lower quadrants bilaterally with diffuse tenderness. After discussion with the patient regarding our concern for ruptured ectopic pregnancy, the patient was amenable with the plan of proceeding with a laparoscopic unilateral salpingectomy.\nA diagnostic laparoscopy was performed which revealed moderate hemoperitoneum upon abdominal entry. On pelvic survey, the left fallopian tube was noted to have a dilated distal portion, approximately 2cm in diameter with active bleeding, consistent with a ruptured left ectopic versus tubal abortion (). Notably, the mid-portion of the right fallopian tube appeared dilated at the junction between the isthmus and the ampulla, about 3cm in diameter, without evidence of rupture or bleeding, which was concerning a concurrent second ectopic pregnancy ().\nThe surgeons were then faced with a difficult decision regarding management of the unruptured contralateral tube. The patient's husband (and power of attorney) subsequently became involved with all decisions regarding the patient's plan of care. A left salpingectomy was essential given the abnormal left fallopian tube with active bleeding. Options for management of the contralateral tube were presented: right salpingectomy, right salpingostomy with Methotrexate (MTX) administration, or MTX administration alone without surgical intervention on the right fallopian tube. After thorough risk-benefit consideration, as well as intraoperative consultation with the patient's Reproductive Endocrinologist, the decision was made to retain the right fallopian tube and proceed conservatively with MTX administration (single-dose regimen of 50 mg/m2) due to the patient's likely desire to preserve her fallopian tube.\nThe patient had an uneventful recovery and her day 4 and day 7 β-hCG values confirmed an appropriate decline in β-hCG levels after MTX injection. The β-hCG level had dropped to a nonpregnant level by approximately three weeks following MTX administration. Histology of the left fallopian tube included the presence of chorionic villi, which confirmed the diagnosis of a left ectopic pregnancy. Repeat TVUS one-month following the surgery was normal without evidence of right tubal dilatation. Approximately 14 weeks after surgery, the patient had a repeat TVUS which revealed a single viable intrauterine pregnancy, which was conceived spontaneously. | [[32.0, 'year']] | F | {'27134298': 1, '2195405': 1, '7745054': 1, '1915943': 1, '9423769': 1, '17630158': 1, '2652016': 1, '27001382': 1, '25091994': 1, '27015601': 1, '7823895': 1, '9988399': 1, '27134950': 1, '29259495': 1, '30069421': 2} | {} |
1,377 | 6057321-1 | 30,073,105 | comm/PMC006xxxxxx/PMC6057321.xml | Postauricular Melanocytic Neuroectodermal Tumor of Infancy: A Rare Site of a Rare Tumor—MNTI as a Postauricular Mass with Literature Review | Our patient was a two-month-old male referred for evaluation of a left postauricular mass, present since birth. Workup by the patient's pediatrician including an ultrasound suggested a cystic mass prompting referral for surgical excision. The parents endorsed noticing the lesion at birth and that it had been painless and slowly progressive. Physical exam demonstrated a firm 2 × 2 cm subcutaneous lesion of the postauricular region. An MRI was obtained demonstrating a 2.3 × 1.4 × 2.2 cm well-defined solid mass involving the outer table of the right temporal bone and temporoparietal suture with intense peripheral enhancement and without restricted diffusion (). Initial resection in the operating room was undertaken, and a deep plane between the mass and skull was identified and followed reflecting the lesion off of the skull. Unfortunately, pathology demonstrated focal presence of tumor cells at the peripheral margin. The patient underwent a repeat resection, with a canal wall up mastoidectomy. The lesion was again resected en bloc, and the underlying cortical bone was drilled down to the inner table of the temporal bone with healthy appearing bone stock. Despite clinically normal-appearing bone, the pathology again demonstrated presence of tumor cells at the soft tissue margins, and clinically the patient demonstrated significant regrowth of the lesion. The patient returned to the operating room once more, with a fairly impressive progression of gross tumor, nearly 2.5 × 2.0 cm (). A revision mastoidectomy was performed, and neurosurgical consultation was obtained. The mass was excised en bloc resulting in a full-thickness craniectomy. The dura appeared healthy and unaffected by the tumor (). The wound was closed primarily, and the patient was observed overnight in the PICU before being discharged home postoperative day one in stable condition. The patient developed purulence at his incision site one month postoperatively requiring intra-washout with neurosurgery. The infection resolved without further complication or treatment requirement. He was seen at six months postoperatively with no evidence of disease in good condition. | [[2.0, 'month']] | M | {'21737290': 1, '26602435': 1, '22430481': 1, '12479433': 1, '16876064': 1, '3020466': 1, '26122804': 1, '2162511': 1, '34918649': 2, '30073105': 2} | {'8678023-1': 1} |
1,378 | 6057327-1 | 30,073,103 | comm/PMC006xxxxxx/PMC6057327.xml | Gastric Linitis Plastica and Peritoneal Carcinomatosis as First Manifestations of Occult Breast Carcinoma: A Case Report and Literature Review | In March 2016, a 53-year-old premenopausal woman was admitted to our institute with the diagnosis of gastric linitis plastica and peritoneal carcinomatosis. She presented with upper abdominal pain, dyspepsia, nausea, and daily postprandial vomiting with weight loss of approximately 4 kilograms in 2 months. The Eastern Cooperative Oncology Group (ECOG) performance status (PS) was 2. Her medical history was negative for oncologic diseases, and she had no relevant comorbidities; no history of Helicobacter pylori-associated gastritis. At clinical examination, she presented with epigastric tenderness and no mass. Blood tests were within the normal values, with the exception of CA15.3 (211 U/ml) and CEA (11.1 ng/ml). Abdominal computed tomography (CT) revealed an increased wall thickness of the pyloric antrum along with mesenteric lymphadenopathy (20 mm) and peritoneal carcinomatosis. No liver metastases were detected. At esophagogastroduodenoscopy (EGDS), a severe pyloric stenosis was reported in the absence of mucosal lesions. The clinical manifestation was strongly suggestive of linitis plastica. Several gastric biopsies were performed, and histology concluded for a diffuse localization of epithelial cancer. Immunohistochemistry excluded gastrointestinal origin. There was a strong immunoreactivity for estrogen and progesterone receptors (ER-PgR: 80%-80%), GATA3 (3+), and cytokeratin (CK) 7, 8, 18, and 19; the human epithelial growth factor receptor 2 (HER2) was negative (1+) and the Ki67 index was <5%. Histological exam concluded for metastatic breast cancer with gastric linitis plastica.\nA complete breast radiological investigation including bilateral ultrasound and mammography, and magnetic resonance imaging excluded the presence of breast abnormalities. Multiple bilateral suspicious axillary lymph nodes (maximum diameter of approximately 10 mm) were identified at ultrasonography and MRI. A fine-needle aspiration of a right axillary lymph node was performed, and cytology was positive for epithelial malignant cells.\nTo definitively exclude a gastrointestinal origin of the neoplasm, the patient also underwent laparoscopic peritoneal biopsy. Histological and immunohistochemical studies confirmed breast origin. After the multidisciplinary discussion, a surgical approach was excluded. A Witzel feeding jejunostomy was created.\nAll international breast cancer guidelines recommend endocrine therapy in luminal metastatic breast cancer without visceral crisis. Our patient, after jejunostomy creation and starting of enteral nutrition, was asymptomatic, and so, in April 2016, hormone therapy with fulvestrant was started (500 mg, day 0, 14, and 28 and every 28 days thereafter by intramuscular injection). We decided on intramuscular therapy to overcome the patient's dysphagia.\nAfter four months of hormone therapy, CT scan was performed and reported stable disease. The patient also experienced clinical improvement with weight increase (1 kg) and palliation of dysphagia. Sporadic postprandial vomiting was still present.\nIn January 2017, CA15.3 was normalized (3.8 U/ml) and a new EGDS with biopsies was performed. Histology confirmed localization of adenocarcinoma with immunohistochemistry ER 90%, PgR 35%, CK7 3+, gross cystic disease fluid protein 15 (GCDFP-15) 3+, and HER2 1+ ().\nThe patient is still in a good clinical condition with ECOG PS 1 up to this day. Supportive enteral nutrition is still ongoing, but dysphagia has significantly improved. Hormone therapy with fulvestrant is still ongoing and well tolerated. The last radiological evaluation was performed in February 2018, and it showed a stable disease.\nAdditionally, because of a potential genetic correlation between diffuse gastric carcinoma and early-onset lobular breast carcinoma [], we also performed a genetic evaluation and searched for CDH1 germline mutations, but no genetic abnormalities were identified. In our case, the absence of primitive lesion prevented any possibility of the histological subdefinition, although the lobular histological subtype is the most common cause of metastatic gastric linitis plastica caused by breast cancer []. | [[53.0, 'year']] | F | {'30918733': 2, '1421863': 1, '11147591': 1, '1568608': 1, '17376062': 1, '18808296': 1, '6331484': 1, '26759166': 1, '11606367': 1, '24982453': 1, '2542151': 1, '8884351': 1, '3046543': 1, '26314775': 1, '3948119': 1, '24848085': 1, '34956535': 1, '24122263': 1, '22096760': 1, '20824034': 1, '7636553': 1, '30073103': 2} | {'6408989-1': 1} |
1,379 | 6057329-1 | 30,073,027 | comm/PMC006xxxxxx/PMC6057329.xml | Intraoperative Tracheal Obstruction Management among Patients with Anterior Mediastinal Masses | A 30-year-old Caucasian female consulted her physician after being subject to lethargy, night sweats, weight loss, and dry cough with dyspnea upon heavy exercise for one month. She was previously healthy, occasional smoker with no previous surgeries or any known allergies.\nSeries of lab tests showed a mild normocytic anemia with mild lymphocytosis, while a preoperative chest computed tomography scan, showed a 15 cm anterior mediastinal mass with no involvement of the adjacent structures: superior vena cava, pericardium, or pleura. Following that, the thoracic surgeon scheduled a diagnostic mediastinoscopy.\nThe implicated surgeon described the procedure to the anesthesiologist in charge of the patient as being risk-free, and that he needs general anesthesia due to the difficulty in accessing the mediastinal mass. Anesthetic induction was uneventful. The patient was easily ventilated and after reaching a proper anesthetic depth, she was intubated via uncomplicated direct laryngoscopy with a French endotracheal tube (ETT) 7.5 cm. Bilateral breath sounds were checked and even chest expansion were noticed. Pulse oximetry showed an arterial oxygen saturation of 99% with an end-tidal CO2 within the normal range.\nFew minutes later, the patient developed a sudden airway collapse where end-tidal CO2 dropped significantly, and desaturation was noted with no chest expansion. The anesthesiologist directly extracted the tube, but the mask ventilation was unsuccessful; so he decided to immediately reintubate the patient to secure the airway. Then, the ventilation was regained, saturation increased, and CO2 curve reappeared. So as a result, airway collapse was reported and/or ETT displacement.\nLater, the patient developed another airway collapse, so bronchospasm was suspected. Based on this suspicion, albuterol and Solu-Cortef were given. As a result, ventilation was regained, but with high inspiratory and positive end expiratory pressures and with an increase of the end-tidal CO2 to a critical level.\nThe anesthesiologist then performed a fiberoptic tracheal exploration, it showed a narrowed trachea just distal to the ETT due to an extrinsic mass obstructing the tracheal lumen and extending down the carina. Due to this new finding, he decided to postpone the procedure until the stabilization and the management of the airway stenosis. However, the surgeon insisted to proceed with this elective surgery.\nUnder diagnostic biopsy performance and mediastinoscope insertion, she developed another airway collapse while the patient was sedated, but ventilation was maintained at high inspiratory pressures and the patient was monitored for a consecutive of 15 minutes.\nBiopsy from the anterior mediastinal mass was taken and sent to the anatomopathologist. Then, mediastinoscope was retracted, auscultation revealed bilateral minimal air entry. Propofol and sevoflurane used for maintenance of anesthesia were discontinued and 15 min later, the patient was breathing spontaneously but with some retractions. Upon giving Prostigmin, she developed another airway collapse with severe oxygen desaturation. The anesthesiologist decided to keep the patient intubated; she was transferred to the intensive care unit for observation and evaluation of her airway obstruction.\nIn the intensive care unit, thorough laboratory and radiology revealed a severe distal extrinsic tracheal compression and left main bronchus compression of more than 80% by the anterior mediastinal mass, with no involvement of the adjacent vascular structure. They also showed a left lower lobe consolidation in favor of a pneumonia and minimal bilateral pleural effusion. Meanwhile, she kept developing airway collapse with severe arterial oxygen desaturation.\nShe was treated with an empiric antibiotherapy, with intravenous steroids and nebulizers. A multidisciplinary team decided to begin chemotherapy after the anatomopathologist result came as a non-Hodgkin's lymphoma.\nSubsequent to treatment, lymphoma size decreased progressively, relieving the airway compression, and extubation was performed after one week from undergoing the mediastinoscopy. After three days of observation, she was discharged home, with scheduled outpatient chemotherapy sessions and later possible surgical management. | [[30.0, 'year']] | F | {'27076967': 1, '16317755': 1, '15087617': 1, '17211158': 1, '24963195': 2, '14717880': 1, '30073027': 2} | {'4050947-1': 1} |
1,380 | 6057339-1 | 30,073,097 | comm/PMC006xxxxxx/PMC6057339.xml | Garre's Osteomyelitis of the Mandible Caused by Infected Tooth | Our patient, an eight-year-old girl, presented to our clinic, with severe swelling and facial asymmetry on the right mandibular molar region. We were informed that the patient developed the swelling as a result of an infection three months previously. The patient had been treated with antibiotics, but as that treatment had not proved successful, she was referred to our clinic. In addition, a passed or congenital disease was not specified in the patient's medical history. Clinical examination revealed severe swelling without fluctuation upon palpation and submandibular lymphadenopathy in the right mandibular region. The patient's skin was of normal color and appearance. In the oral examination, the right mandibular first molar tooth was found to have a deep caries cavity and to not be mobile. The other parts of the oral mucosa were normal. The radiographic examination revealed a deep caries cavity and a radiolucent area in the apical region of the right mandibular first molar tooth. There was also a lamellar appearance on the external cortical surface of the mandible as well as at the lower edge of the mandibular corpus, showing focal new bone formation (). When the axial and cross sections were evaluated during the examination with cone-beam computed tomography (CBCT), a tunnel-like defect was identified in the cortical bone in the vestibule surface of the inflamed bone, starting from the apical region of the right mandibular first molar tooth. Bone deposition at the radiolucent area in the center was observed at the lower edge of the mandible as well as the vestibule surface in this region (). When all these findings were evaluated, it was concluded that the pathologic lesion was Garre's osteomyelitis due to the periapical infection of the right mandibular first molar tooth. In this case, endodontic treatment was considered primarily to retain the infected tooth in the mouth. However, as the patient had come from a remote rural area and could not accept such a treatment due to the prohibitive cost, she was transferred to the surgical clinic, where the most appropriate treatment method was considered to be dental extraction.\nThe postoperative examination four months later revealed that the bone contours had returned to normal, the asymmetry of the face had disappeared, and the cortical bone thickness had decreased and been remodeled to the previous normal appearance (Figures and ). | [[8.0, 'year']] | F | {'16037779': 1, '17456965': 1, '11990057': 1, '26381640': 1, '33299618': 1, '16364095': 1, '29326520': 2, '17921638': 1, '30073097': 2} | {'6057339-2': 2, '5754990-1': 1} |
1,381 | 6057339-2 | 30,073,097 | comm/PMC006xxxxxx/PMC6057339.xml | Garre's Osteomyelitis of the Mandible Caused by Infected Tooth | A 16-year-old girl similarly presented to our clinic with severe swelling and facial asymmetry in the left mandibular premolar region. No pathology could be determined from her clinical and medical history. Clinical examination revealed severe swelling without fluctuation upon palpation, submandibular lymphadenopathy, and a deep caries cavity in the left mandibular second premolar tooth. Additionally, in the radiologic examination, a deep caries cavity was found in the left mandibular second premolar tooth, while a radiolucent area was found in its apical region. However, no change could be detected at the lower edge of the mandibular corpus on these conventional radiographs (). For this reason, a sectional examination using CBCT was required. When the axial and coronal sections were evaluated, in addition to the inflammation in the apical region of this tooth, bone deposition was observed horizontally on the vestibule surface of the mandible (). When all these findings were evaluated, it was concluded that the pathologic lesion was Garre's osteomyelitis due to the periapical infection of the left mandibular second premolar tooth. Considering the age of the patient, endodontic treatment was considered to retain the infected tooth in the mouth. However, since the patient refused that treatment for similar reasons as in the previous case, the patient was sent to the surgical clinic. Although we wanted her to return to our clinic for a postoperative check-up a few months after the tooth extraction, we were unable to contact her again. | [[16.0, 'year']] | F | {'16037779': 1, '17456965': 1, '11990057': 1, '26381640': 1, '33299618': 1, '16364095': 1, '29326520': 2, '17921638': 1, '30073097': 2} | {'6057339-1': 2, '5754990-1': 1} |
1,382 | 6057356-1 | 30,073,026 | comm/PMC006xxxxxx/PMC6057356.xml | Silicone-Induced Foreign Body Reaction: An Unusual Differential Diagnosis of Posterolateral Hip Pain | A 31-year-old female presented with a five-year history of left lateral hip pain. She was initially seen at an outside facility and was diagnosed with trochanteric bursitis. At that time, she received a non-X-ray-guided steroid injection to the trochanteric bursa, which resulted in worsening of her pain. On presentation to our clinic, the pain was described as dull, 4/10, alleviated by rest and aggravated by movement. She denied joint swelling or erythema.\nHer physical exam revealed normal gait, station, and full-range of movement of the left hip. There was no hip joint swelling, tenderness, or erythema. However, point tenderness over the left lateral thigh was elicited.\nLaboratory studies revealed normal erythrocyte sedimentation rate (ESR) and c-reactive protein (CRP). X-ray of bilateral hips did not reveal any abnormality.\nA musculoskeletal ultrasound () of the left lateral and posterior hip was performed. This showed normal gluteus miminus. However, there was dense hypoechogenicty of the gluteus medius with loss of normal echotexture. Posteriorly, there was a hyperechoic appearance as well as several anechoic areas. By probe palpation, tenderness correlated to the hyperechoic areas over the gluteus medius. The right lateral hip had similar but less prominent findings with the gluteus medius being the most affected. Further history was obtained which revealed that the patient had undergone silicone injections abroad, in the past.\nSince deeper tissues could not be visualized due to artifacts, magnetic resonance imaging (MRI) was ordered. MRI of the patient's pelvis with contrast () was obtained. This showed innumerable small low signal foci throughout the gluteus maximus and overlying subcutaneous fat bilaterally consistent with injectable material, possibly silicone. | [[31.0, 'year']] | F | {'17039657': 1, '15692516': 1, '12193896': 1, '18608261': 1, '23538537': 1, '27014553': 1, '25756488': 1, '24444505': 1, '20566586': 1, '26209707': 1, '15655137': 1, '16784515': 1, '16388285': 1, '25536126': 1, '19852127': 1, '18793986': 1, '19483588': 1, '30073026': 2} | {} |
1,383 | 6057401-1 | 30,069,418 | comm/PMC006xxxxxx/PMC6057401.xml | Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia | A 64-year-old white male, with past medical history of depression, presented with progressive weakness, unintentional weight loss, and exercise intolerance since past 1 month. He was a very healthy and active person; he enjoyed biking and rollerblading. The above symptoms were very unusual for him. The patient reported intermittent episodes of epistaxis, 3-4 times a week since the past month, lasting for a few minutes. He also endorsed 2-3 episodes of loose stools daily since the past month. Of note, the patient had history of exposure to Agent Orange between years 1969 and 1971; the first exposure was forty-five years earlier. Physical examination revealed stable vital signs with a palpable spleen of six finger-breadths below the left costal margin and mild hepatomegaly. Cardiopulmonary, lymphatic, and dermatologic examination, including Darrier's sign were all negative.\nOn admission, the patient was found to have a hemoglobin count of 5.1 g/dl, which was a significant drop from the patient's baseline hemoglobin of 13-14 g/dl. Other basic laboratory studies are presented in . Urine analysis, stool for blood test, serum haptoglobulin, LDH, hepatitis B and C testing, PNH by flow cytometry, and hemochromatosis gene mutation were normal or negative. Serum tryptase level was elevated at 1110 ng/ml (normal < 11.4 ng/ml). Bone marrow biopsy and clot section performed as a part of anemia workup revealed hypercellularity with markedly increased maturing granulopoiesis with increased number of neutrophils and eosinophils. Erythropoiesis was markedly decreased with only very rare proerythroblasts present (). Megakaryocytosis with dysmegakaryopoiesis was also appreciated. Several perivascular fibrotic areas containing mast cell aggregates were also identified (Figures and ). The mast cells were positive for mast cell tryptase and aberrant expression of CD2 and CD25 (Figures and ). c-KIT and D 816 V mutations were detected. The above findings were suggestive of ASM. FISH, cytogenetic, and flow cytometric analyses were unrevealing. Parvovirus immunostain was negative.\nAfter the diagnosis of ASM and PRCA, the patient left our hospital against medical advice. He became completely transfusion-dependent and was receiving weekly red cell transfusions from a nearby community hospital. He returned to our hospital after 5 weeks with worsening anemia, thrombocytopenia, liver function tests, and coagulopathy. The patient reported lack of transportation and social support to return to hospital for treatment. Peripheral smear revealed normochromic normocytic anemia with occasional ovalocyte, rare target cell, and dacrocyte. No nucleated red blood cell was identified. Granulocytes appeared mature without abnormal granulation or segmentation. Eosinophils were increased (30% with an absolute number of 1400/mcL) without abnormal features. Monocytes were increased to 12.9% without absolute monocytosis. Imaging studies (ultrasound and CT scan of abdomen) revealed hepatomegaly (liver 19.7 cm in length) and splenomegaly (spleen 19.1 cm in length) with multiple retroperitoneal lymph nodes.\nWith the patient's prior history of depression and ongoing thrombocytopenia, interferon alfa and 2-chlorodeoxyadenosine were not recommended for treatment of ASM. New avenues of treatments were discussed. Since the mast cells were CD30+, brentuximab vedotin was administered at a dose of 1.8 mg/kg. After therapy, patient developed worsening neutropenia, despite filgrastim and worsening anemia, and thrombocytopenia. The patient also developed Gram-negative bacteremia secondary to a urinary tract infection and became hypotensive and hypoxemic with lactic acidosis. The patient died 2 weeks later in the intensive care unit. Our patient lived for a short time after diagnosis of ASM; hence, there was not enough time for many sequential therapies. He did receive high-dose steroids before and concurrently with brentuximab therapy.\nThe patient deceased within 2 months of initial diagnosis. | [[64.0, 'year']] | M | {'10909044': 1, '26994848': 1, '27355533': 1, '14687615': 1, '19890907': 1, '27069254': 1, '6296213': 1, '12681363': 1, '19327582': 1, '29386216': 1, '25573993': 1, '2002248': 1, '18510682': 1, '26464169': 1, '19193436': 1, '11377686': 1, '34445665': 1, '14687620': 1, '22905207': 1, '10909045': 1, '20526893': 1, '25154823': 1, '30069418': 2} | {} |
1,384 | 6057407-1 | 30,073,098 | comm/PMC006xxxxxx/PMC6057407.xml | Localized Bone Loss Resulted from an Unlikely Cause in an 11-Year-Old Child | An 11-year-old girl with no pain complaint and adequate oral hygiene reported mobility on the 44 teeth (). Clinically, a reddish edema around the teeth, sessile, with an irregular surface, and no local irritant was found (). In the anamnesis, the parents reported that the child had never been to a dentist. In addition, the child said that she did not put any object in the affected region. The radiography showed an extensive horizontal bone loss on the mesial and distal areas of tooth 44 (). After clinical examination and anamnesis, the probable diagnosis of pyogenic granuloma was discarded because no trauma or local irritant [] was found or reported. In the first visit, the professional irrigated the site with sodium iodide 2% and hydrogen peroxide, and beyond that, subgingival scaling was made. After these procedures, no foreign body was removed or identified. Therefore, a biopsy and the granuloma removal were planned in the next visit. The surgery started with anesthesia of the alveolar, lingual, and buccal nerve block, incision with scalpel blade, and tissue removal by excisional biopsy (). During the surgery, the foreign body, an orthodontic elastic band, was found around the root's tooth (). The elastic band was removed (), the root scaling was performed, and the soft tissues were sutured (). After 7 days, the patient returned for the suture removal, showing adequate healing (). The patient never attended to the subsequent control schedules. | [[11.0, 'year']] | F | {'3166061': 1, '24600146': 1, '25053946': 1, '9368442': 1, '23984109': 2, '16298220': 1, '20857009': 1, '6931491': 1, '23960528': 1, '6592980': 1, '10522227': 1, '2639418': 1, '22920707': 1, '22567456': 1, '6986422': 1, '8676275': 1, '22434943': 1, '4608985': 1, '1064666': 1, '30073098': 2} | {'3745853-1': 1} |
1,385 | 6057411-1 | 30,073,099 | comm/PMC006xxxxxx/PMC6057411.xml | A Rare and Potentially Catastrophic Infection: Primary Intestinal Aspergillosis—Case Report in an HIV Patient | A 71-year-old woman with a past medical history of uterine cancer 25 years before, herpes-zoster infection two years before, recent diagnosis of human immunodeficiency virus (HIV) infection, and cervical adenopathies under investigation presented at the first medical appointment at the Infectious Diseases Unit referring a 3-week history of fever, weight loss of 20 kg, and hemoptoic cough, as well as diarrhea with one year of evolution. On physical examination, she was cachectic and weak, had axillary temperature of 38°C, blood pressure of 112/80 mmHg, respiration rate of 40 per minute, heart rate of 142 beats per minute, and oxygen saturation of 95% in room air. She also presented with pain and tenderness at the palpation of the hypogastric region, and during the consultation, she presented cardiorespiratory arrest. Advanced life support with favorable response was performed, and she was subsequently transferred to the emergency room where it was necessary to initiate aminergic support and proceed to orotracheal intubation and mechanical invasive ventilation. The complementary diagnostic exams revealed white blood cell count 14,740/μL with absolute neutrophil count 13,180/μL (89.4%) and absolute lymphocyte count 970/μL (6.6%) with 113 CD4+/μL cells, hemoglobin level 11.3 g/d, and platelet count 2,33,000/μL. She presented with blood creatinine 1.34 mg/dL, pancreatic amylase 222 U/L (4 times above the upper limit of normal), pancreatic lipase 174 U/L (3 times above the upper limit of normal), and seric lactates 6.5 mmol/L. Viral load of HIV by polymerase chain reaction was 2,330,220 copies/mL. Thoracic, abdominal, and pelvic computed tomography (CT) revealed pneumoperitoneum, peritonitis, diffuse parietal thickening, and dilatation of the intestinal loops of the jejunum with splenic infarction ().\nAn emerging surgery exploratory laparotomy was performed having been found enteric peritonites of the large cavity, occlusion with transition point at the level of the distal jejunum and poor perfusion, and thickening of the distal loops and perforation at the level of the distal ileum. Segmental enterectomy of approximately 35 cm of jejunum/ileum has been performed, including ischemic loop and ileal perforation. In the postoperative period, she was admitted to the intensive care unit, and broad-spectrum antibiotic therapy has been initiated. Nevertheless, she evolved with progressive clinical deterioration with increasing need of amines and without favorable hemodynamic response. The patient passed away the same day. The histological examination of the segmental enterectomy piece and available postmortem revealed acute transmural inflammation of the enteric wall, with suppuration and necrosis and extensive lesions of acute fibrinoexudative serositis with fungal hyphae of the Aspergillus spp. type. There were no images of angioinvasion, epithelioid granulomas, or signs of malignancy. The culture of peritoneal fluid obtained during surgery revealed polybacterial and fungal overinfection with Enterococcus faecium, Escherichia coli, and Candida albicans. | [[71.0, 'year']] | F | {'24758620': 1, '18621562': 1, '9674477': 1, '18069930': 1, '11170942': 1, '12183144': 1, '33501887': 1, '20618330': 1, '26123932': 1, '18462102': 1, '17180588': 1, '11073760': 1, '30073099': 2} | {} |
1,386 | 6057417-1 | 30,073,095 | comm/PMC006xxxxxx/PMC6057417.xml | Retroperitoneal Paraganglioma-Induced Cardiogenic Shock Rescued by Preoperative Arterial Embolization | An 18-year-old female patient was admitted to the endocrinology unit for assessment and preoperative management of a retroperitoneal PG. The patient's past medical history was significant for psoriasis since age 2, for which she has been getting an association of betamethasone and salicylic acid. The patient also reports a history of functional colopathy for the past 3 months. No other significant history of endocrine or tumoral conditions was reported. The patient has been suffering from recurring episodes of excessive perspiration and palpitations over the past 4 years, associated with other symptoms of hypertension such as headaches and tinnitus. The patient also reported multiple episodes of recurrent right-sided abdominal pain worsening over the past year.\nHer physical exam upon admission was normal with a BMI (Body Mass Index) = 21.8 kg/m2, a BP (blood pressure) = 130/90 mmHg bilaterally (no postural hypotension was noted), and a heart rate (HR) =88 beats per minute (bpm). The cutaneous examination showed facial erythrosis and eczematous lesions of the upper and lower extremities. No pigmentation disorders nor cutaneous superficial neurofibromas were noted. EKG analysis showed a sinus rhythm and a left ventricular hypertrophy (LVH). An abdominal computed tomography (CT) scan revealed no adrenal abnormalities but a 7.0 x 5.0 cm tissular-like retroperitoneal mass in contact with the abdominal aorta and the inferior vena cava, intimately related and displacing anteriorly the head of the pancreas (). Abdominal MRI and elevated urinary methylated metabolites of catecholamines (Metanephrine = 3.2 μmol / 24h (normal range (NR) 0.2 to 1), Normetanephrine = 47.5 μmol / 24 h (NR: 0.4 to 2.1)) confirmed the diagnosis of catecholamine-secreting retroperitoneal PG.\nTwenty-four hours after admission, the patient developed a cardiogenic shock. Her initial vital signs were as follows: Glasgow Coma Scale (GCS) = 14 (E4 V4 M6), BP = 82/46 mmHg, HR = 150 bpm, a respiratory rate at 25 cycles per minute with a SpO2 (peripheral oxygen saturation) at 60% with cold distal extremities and cyanosis. Capillary blood glucose was 150 mg/dl. Fluid resuscitation using 500 ml of Ringer Lactate solution and oxygen through high concentration mask were both promptly started and the patient was transferred to the ICU.\nOn admission, clinical assessment showed signs of heart failure, elevated troponin, and lactates markers and an EKG revealed sinus tachycardia with a frequency of 130 bpm. The patient was hypoxic with a SpO2 at 95% under 9 L/min of oxygen. Two right femoral central lines were placed (venous and arterial) and the patient was started on Noradrenalin (at a rate of 0.5 μg/kg/min). An echocardiography revealed a global hypokinesia with a left ventricular ejection fraction (LVEF) at 15%, requiring the patient to be put on 15 μg/kg/min of Dobutamine as inotropic support.\nSeeing how the patient was in no shape to undergo open surgery, we opted for a preoperative radiological percutaneous transarterial embolization (TAE), under local anesthesia. It consisted of coiling of four major feeding vessels, 2 arising from the right renal artery and 2 more from the lumbar arteries (L2 and L3), using hydrogel with Polyzene®-F coating microparticules (). The patient was gradually weaned off catecholamines during embolization. She was completely weaned off vasoactive drugs in the next 24 hours. 48 hours after embolization, a follow-up echocardiography showed an overall normokinetic left ventricle (LV), an improved FEVG at 50%, and an aortic VTI (velocity time integral) at 20m/s. Lactate levels went back to normal over the next 48 hours. In the postembolization period, the patient experienced several nonsymptomatic hypertension peaks (systolic blood pressure (SBP) = 220mmHg) and received intravenous nicardipine at a rate of 5 mg/H. The extremities warmed up and the daily urine output was maintained.\nThree days after embolization, the patient was taken to the operating room for the tumor to be surgically removed through a right subcostal approach. Perioperative exploration found a retroperitoneal soft encapsulated tumor measuring 7.0 cm in diameter, in intimate contact with the abdominal aorta, the right renal vein, and the inferior vena cava (). Embolization caused no complications. The tumor's adhesions were carefully released from adjacent organs including the right kidney, the duodenum, and the head of the pancreas. There was no need to place a double J ureteral stent preoperatively. Upon manipulation of the mass, there was moderate elevation in the blood pressure that was controlled with intravenous propranolol and nicardipine. A complete resection of the tumor was performed and no adjacent organs were removed or injured during the surgery ().\nThe patient experienced episodes of hypotension after the tumor excision and received intravenous noradrenaline at a rate of 0.3 μg/kg/min. The patient was then transferred back to the ICU and extubated in fast track manner. She was weaned off vasoactive drugs in the following 6 hours.\nsums up the lab work-up of the patient during her stay.\nDuring close ICU monitoring, the patient presented several episodes of hypoglycemia and hypokalemia and was given intravenous supplementation of glucose and potassium. A postoperative echocardiography showed a hyperkinetic myocardium with an enlarged LV, an IVS (interventricular septum) measuring 13 mm, a lateral wall measuring 14 mm, and a much improved LVEF at 70%.\nThe patient was subsequently discharged after spending 4 days in the ICU and transferred to a general surgery service. Pathological report of the tumor mass confirmed the diagnosis of benign extra-adrenal PG. A one-month echocardiography follow-up noted nothing significant. She now completely recovered and is back to her daily life. | [[18.0, 'year']] | F | {'19408117': 1, '33225892': 2, '25737217': 1, '21422159': 1, '2729074': 1, '18411769': 1, '19767873': 1, '15883711': 1, '26837305': 2, '20549108': 1, '18684026': 1, '22759641': 1, '10365210': 1, '2053761': 1, '30377702': 1, '34158896': 1, '21826022': 1, '11035703': 1, '21741786': 1, '20656271': 1, '26889332': 1, '11701678': 1, '30073095': 2} | {'7682027-1': 1, '4736257-1': 1, '4736257-2': 1} |
1,387 | 6057571-1 | 30,050,627 | comm/PMC006xxxxxx/PMC6057571.xml | Non syndromic supernumerary teeth: management of two clinical cases | Case 1: a 24-year-old female patient was referred to our department for the treatment of multiple impacted supernumerary teeth, which were detected on an orthopantomogram obtained at a dental clinic. An intraoral examination did not detect any abnormalities with regard to the size or shape of the patient's tooth crowns or the relationship between his dental age and chronological age, but a panoramic radiograph revealed three supernumerary teeth which were situated behind the 18, 48 and 38 (). There was no any other specific oral finding and relevant familial history of dental abnormalities. The patient was educated about the presence of multiple supernumerary teeth and the extraction of the two mandibular supernumerary teeth was indicated before orthodontic treatment (). | [[24.0, 'year']] | F | {'16816819': 1, '22919229': 2, '17321454': 1, '25565732': 2, '24789298': 1, '19218904': 1, '2407326': 1, '22474647': 2, '17687181': 1, '19055087': 1, '20711166': 1, '21309064': 1, '18571018': 1, '33817726': 1, '12121534': 1, '20819405': 1, '30050627': 2} | {'6057571-2': 2, '3425112-1': 1, '3314836-1': 1, '3314836-2': 1, '3314836-3': 1, '3314836-4': 1, '3314836-5': 1, '4184325-1': 1} |
1,388 | 6057571-2 | 30,050,627 | comm/PMC006xxxxxx/PMC6057571.xml | Non syndromic supernumerary teeth: management of two clinical cases | Case 2: a 19-year-old girl was referred to our department because of a recurrent pericoronitis relevant to the lower right third molar 48. General physical and extra oral examination did not show any abnormality and medical/family history was non-contributory. Orthopantomogram has revealed a presence of 3 supernumerary teeth which were situated behind the 18, 28 and 48 (). Surgical removal of the right mandibular supernumerary tooth was planned with extraction of the 48 () and the others ST will remain under surveillance following the patient decision. | [[19.0, 'year']] | F | {'16816819': 1, '22919229': 2, '17321454': 1, '25565732': 2, '24789298': 1, '19218904': 1, '2407326': 1, '22474647': 2, '17687181': 1, '19055087': 1, '20711166': 1, '21309064': 1, '18571018': 1, '33817726': 1, '12121534': 1, '20819405': 1, '30050627': 2} | {'6057571-1': 2, '3425112-1': 1, '3314836-1': 1, '3314836-2': 1, '3314836-3': 1, '3314836-4': 1, '3314836-5': 1, '4184325-1': 1} |
1,389 | 6057660-1 | 30,079,108 | comm/PMC006xxxxxx/PMC6057660.xml | An unusual case of a glottic carcinoma metastasis to the tracheal lumen | A 60-year-old male was referred to our department, complaining about gradually worsening hoarseness, during the last 8 month period. Occasional dysphagia and foreign-body sensation were also reported upon referral. The patient was a heavy smoker for more than 20 years, reporting an average of 20 cigarettes per day. Alcohol was also a factor, and although no real alcohol abuse or indulgence was noted, the patient was a rather frequent user.\nMedical history only revealed arterial hypertension under treatment with beta blockers. Haematological and biochemical tests did not show any significant abnormalities.\nPhysical examination included a full head and neck examination, complemented with flexible fiberoptic laryngoscopy. Typical ear, nose and throat examination did not reveal any abnormal findings and neck palpation was negative. However, fiberoptic laryngoscopy revealed a lesion affecting both vocal cords and anterior commissure, while vocal cord mobility appeared impaired. On these grounds, a cervicothoracic and upper abdomen computed tomography (CT) scan with intravenous gadolinium was decided and the patient was scheduled for direct microlaryngoscopy and biopsy of the lesion under general anaesthesia.\nImaging confirmed the laryngeal lesion, yet it also indicated a second lesion about 2 cm below the inferior end of the primary one, arising somewhere between the first and second tracheal ring. Intermediate tissue appeared grossly normal (). No signs of enlarged cervical lymph nodes were noted and laryngeal cartilages showed no abnormal findings.\nOn the other hand, histopathological examination after biopsy of the lesion under general anaesthesia confirmed the diagnosis of squamous cell carcinoma. The lesion was carefully mapped and proved to be a glottic carcinoma affecting the anterior commissure and appearing in strong correlation with the thyroid cartilage. The lesion infiltrated the left and the first tertile of the right vocal cord. No subglottic extension was noted. In this context, the patient was informed and consent for radical surgical therapy was obtained.\nThe patient underwent total laryngectomy and wide excision of the trachea which included the second tumour within safe limits (). The procedure was complimented with left thyroid lobectomy and bilateral selective neck dissection (Robin’s levels II–IV). Paratracheal lymph nodes (Robin’s level VI) were also carefully dissected. The overall postoperative course was uneventful. The patient was discharged from our department on day 16 with very good swallow function and was decannulated after 1 week. Surgical resection was followed by postoperative radiation therapy (6400 cGy/32 fraction).\nThe final pathological report was of crucial importance in our case. First of all, the surgical margins of resection were found to be free of disease. Second, histological sections from the tumour of the glottis showed the characteristic morphology of squamous cell carcinoma. Cancer cells were large in size and polygonal in shape with eosinophilic cytoplasm and nuclei with moderate variation in size and shape. There were a moderate number of mitoses and keratinisation could be focally observed. Cancer cells showed an infiltrative pattern consisting mainly of nests and trabeculae that invaded the vocalis muscle in both the vocal cords. The perichondrium of thyroid cartilage was focally invaded by cancer cells. Histological sections from the tumour of the trachea showed morphological features identical to those of the tumour of the glottis. An upward infiltrating pattern could be noticed. Moreover, a comparative immunohistochemical study of the two tumours showed strong positivity of cancer cells in stains for keratins AE1/AE3 and 34βΕ12 and moderate positivity in stains for CK5/6, CK8/18 and epithelial membrane antigen. Immunohistochemistry for D2-40 antigen (podoplanin) illustrated the positivity of the lymphatic endothelium. Immunohistochemical stains for other vascular endothelia (CD31 and CD34 antigens) were also performed, and were negative. In the region between the two tumours, many lymphatics containing neoplastic emboli could be observed (). Finally, two tumour-infiltrated lymph nodes (the larger being of 1.2 cm diameter) with extracapsular spread were found in the left neck dissection specimen. A pT4a(m)N2b stage, according to eighth edition TNM staging, was established. | [[60.0, 'year']] | M | {'8491588': 1, '10187972': 1, '13094644': 1, '21327458': 1, '9305256': 1, '11404625': 1, '10862022': 1, '2049742': 1, '30079108': 2} | {} |
1,390 | 6057786-1 | 30,046,510 | comm/PMC006xxxxxx/PMC6057786.xml | Homemade Glove Port for Single-Incision Pediatric Endosurgery (SIPES) Appendectomy—How We Do It | A 10-year-old female presented to the emergency room with diffuse abdominal pain for 1 day, and two episodes of vomiting. The clinical and laboratory findings were consistent with appendicitis. Therefore, the girl was taken to the operating room and surgical table set up for SIPES appendectomy, while glove port was prepared (\n). A 2-cm vertical incision was made in the fascia underlying the umbilicus to enter the peritoneal cavity. A wound retractor (Alexis, Size XS, Applied Medical Resources Corp., Rancho Santa Margarita, CA) was placed directly through the fascia, and a 6.5 size latex sterile powder-free surgical glove was connected to it (\n). The thumb of the glove was cut off and a 5-mm trocar (Karl Storz, Germany) was introduced in the abdomen for CO\n2\ninsufflation and introduction of the monopolar hook and tied to the wound retractor to prevent dislocation (\n). A 5-mm 45-cm scope (Stryker Endoscopy, San Jose, CA) was connected to the light cord using a 90° angulated light adapter (Karl Storz) and introduced through a 2-mm incision in one of the finger tips. With standard reusable 5-mm straight laparoscopic instruments, introduced in the same technique as the camera, the appendix was identified, and the mesoappendix divided. The appendix was grabbed, the capnoperitoneum was deflated, and the appendix exteriorized and amputated over a polyglactin suture ligation extracorporeally. The fascial incision was approximated with a running 2–0 polyglactin suture. Finally, the skin incision was closed using interrupted subcuticular 4–0 poliglecaprone sutures (\n). Histological examination confirmed the diagnosis of appendicitis. There were no intra- or postoperative complications. The patient was discharged on postoperative day 2. | [[10.0, 'year']] | F | {'24157110': 1, '23402287': 1, '26576410': 2, '21946218': 1, '28523021': 1, '23239295': 1, '20620322': 1, '27073303': 1, '25280657': 1, '22468065': 1, '34433462': 1, '26168750': 1, '24761405': 1, '22693964': 1, '21197236': 1, '24069975': 1, '21443443': 1, '26776355': 1, '23975016': 1, '30046510': 2} | {'4644911-1': 1} |
1,391 | 6057860-1 | 30,043,132 | comm/PMC006xxxxxx/PMC6057860.xml | Medullary carcinoma of the pancreas radiologically followed up as a cystic lesion for 9 years: a case report and review of the literature | A 73-year-old Japanese female with a history of diabetes mellitus, hypertension, and hyperlipidemia was found to have a cystic lesion in the pancreas by abdominal ultrasonography. Her mother had died of gastric cancer, and her aunt had died of pancreatic cancer. Although she previously had a benign colon polyp, the family history and medical records did not meet the Amsterdam criteria II for Lynch syndrome. The asymptomatic cyst of the pancreas was periodically checked. Over 7 years, the cyst slowly enlarged and was radiologically suspected to be an intraductal papillary mucinous neoplasm (IPMN). At 9 years, she presented with a dull feeling in the stomach and was diagnosed with acute pancreatitis. She received medical treatment then was referred to our clinic for further examination.\nDynamic computed tomography and endoscopic ultrasonography revealed no cyst. Instead, a solid tumor was observed in the main pancreatic duct of the pancreatic body (Fig. –). The main duct of the pancreatic tail was dilated due to obstruction. The tumor was enhanced from the early to delayed phases. Cytology from the pancreatic duct by endoscopic retrograde cholangiopancreatography indicated an adenocarcinoma; however, mucous secretion was not detected, suggesting that IPMN was unlikely. The maximum standardized uptake value of the lesion was 6.8 by positron emission tomography (Additional file ). On laboratory examination, hematologic and biochemical data values were all within normal ranges. Serum levels of carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 19-9, and pancreatic cancer-associated antigens (DUPAN-2 and SPAN-1) were all within normal ranges.\nThe pre-operative diagnosis was invasive ductal adenocarcinoma, and the patient underwent pancreatoduodenectomy and D2 lymph node dissection. The clinicopathologic diagnosis was stage I ductal adenocarcinoma. The surgical margin was free of tumor cells. No lymph node or distant metastasis was detected; thus, the tumors-nodes-metastasis (TNM) stage was pT1aN0M0. The postoperative course was uneventful, and the patient was discharged at postoperative day 22 without comorbidity. The patient received six courses of S-1 (100 mg/day) as the postoperative adjuvant therapy. She has undergone medical check-ups every month including tumor markers (CEA and CA19-9) bimonthly. Computed tomography and ultrasonography have been done every 3 months. Although CEA has fluctuated between 4 and 11 ng/ml, no evidence of recurrence has been detected so far.\nThe resected specimen contained a 22 × 10-mm circumscribed nodular tumor in the pancreatic main duct (Fig. –). Microscopically, the tumor grew in an expansive manner. The border between the tumor and non-tumor areas was well defined and associated with prominent lymphocytic infiltration. Contrary to typical invasive ductal adenocarcinomas characterized by tubular structures with abundant stroma, the tumor cells proliferated in a medullary pattern, with fewer stromal components. Close examination revealed marked nuclear pleomorphism with prominent nucleoli. Syncytial cells were observed sparsely. Although the pancreas had been radiologically followed for 9 years due to the presence of a suspected cystic lesion, the pancreas did not actually have any cysts. The distal portion of the pancreatic duct was dilated due to obstruction, but no neoplastic/metaplastic changes were observed. Immunohistochemical analysis revealed that the tumor was positive for cytokeratin (CK)-7 and CK-20, and focally positive for mucin (MUC) 5AC and MUC6. The tumor was negative for MUC2 and caudal-type homeobox (CDX) 2 (Additional file ). These staining patterns supported neither IPMN nor intraductal tubulopapillary neoplasm. Based collectively on these observations, the tumor was diagnosed as MCP.\nPossible contribution of oncogenic gene mutations and microsatellite instability (MSI) to MCP carcinogenesis is mentioned in the literature; therefore, further pathologic characterization was performed. A KRAS codon 12 mutation (G12V) was detected in the tumor tissue. Immunohistochemical analysis for MutL homolog (MLH) 1, MutS homolog (MSH) 2, MSH6, and postmeiotic segregation increased (PMS) 2 demonstrated normal positive staining patterns, indicating microsatellite stability. Together with the family history that did not match the Amsterdam II/Bethesda criteria, Lynch syndrome was clinically ruled out. In situ hybridization for Epstein-Barr virus (EBV) peptide nucleic acid was negative.\nOnly a few papers have described the histopathologic characteristics and clinical outcomes of MCP, and the pathogenesis of this malignancy is largely unknown. Clinicopathologic features of 20 MCPs in the literature and the present case are summarized in Table [–]. Although a better prognosis compared to usual ductal adenocarcinoma of the pancreas is suggested, 15 patients died of disease (70%), 11 within 1 year of diagnosis. This indicates that MCP essentially has a poor prognosis, even though some patients experience longer survival compared to patients with more common ductal adenocarcinomas. Six patients survived for ≥ 24 months, and two survived for ≥ 5 years. The present patient has been followed for 29 months without recurrence, which may be due in part because she underwent surgical intervention of stage I disease, after watchful waiting for 9 years. None of previous MCPs was reported to have watchful surveillance prior to surgery.\nPrevious studies of MCP suggest two possible genetic pathways: KRAS mutation and MSI. In the literature, four of five high-MSI cases had wild-type KRAS, whereas all KRAS-mutant MCPs (n = 7) showed microsatellite stability (Table ). These findings indicate that aberrations in these two pathways may occur in a mutually exclusive manner in patients with MCPs. According to The Cancer Genome Atlas (TCGA) network analyses of typical pancreatic ductal carcinomas, KRAS mutation is the most frequent genomic event (140/150, 93%) while MSI is not observed []. Therefore, MSI in the five MCP patients should be noted as a potentially specific event. In contrast, KRAS mutation alone cannot distinguish MCP from typical pancreatic ductal adenocarcinomas. Four of seven patients with KRAS-mutant MCP died within 1 year; these outcomes are similar to those of patients with advanced typical ductal adenocarcinomas. If KRAS-mutant MCPs share other common molecular signatures with typical ductal adenocarcinomas, such as TP53 mutation and copy number losses of cyclin-dependent kinase inhibitor (CDKN) 2A and SMAD4 [, ], characteristic histology in these cases may depend on inflammatory events unrelated to genetic background. One case of microsatellite-stable MCP showed positivity for EBV RNA []. The current patient experienced an episode of acute pancreatitis. In situ hybridization for EBV was negative, suggesting that EBV infection was not associated with this case. Although the WHO classification of MCP is based on morphological characteristics such as pushing growth of highly pleomorphic carcinoma cells, including syncytial cells, no specific markers have been identified that distinguish KRAS-mutant MCP from undifferentiated/poorly differentiated ductal adenocarcinomas. Together with genomic divergence, inflammation-related episodes in a few MCPs allow us to hypothesize that MCP potentially consists of more than one subtype and that adventitious events such as acute infection may contribute to the histopathology. Detailed molecular characterization using larger numbers of MCP cases should be conducted in future studies. | [[73.0, 'year']] | F | {'33266496': 1, '32658072': 1, '9626054': 1, '16996571': 1, '10793075': 1, '21736405': 1, '28810144': 1, '25719666': 1, '30043132': 2} | {} |
1,392 | 6057863-1 | 30,043,121 | comm/PMC006xxxxxx/PMC6057863.xml | Non-familial juvenile polyposis of the stomach with gastric cancers: a case report | A 63-year-old man was evaluated for anemia (hemoglobin 11.8 g/dl) and hypoalbuminemia (albumin 3.7 g/dl) in another hospital. He had been diagnosed with gastric polyposis 5 years ago. He underwent esophagogastroduodenoscopy, which showed multiple reddish polyps accompanied by bleeding and erosion throughout the stomach (Fig. ) and two elevated lesions with irregular margins in the anterior wall of the corpus (Fig. ) and lesser curvature of the angular region (Fig. ) of the stomach. Histopathological diagnosis of the two elevated lesions by biopsy showed well-differentiated adenocarcinomas. He was referred to our hospital for treatment of gastric polyposis with gastric cancers. He had no medical history except for gastric polyposis, no family history, and no physical findings such as skin pigmentation or abnormalities of the hair and nails. Blood biochemical tests were negative for tumor markers (carcinoembryonic antigen, 0.6 ng/ml; carbohydrate antigen 19–9, 6.7 U/ml). Computed tomography showed gastric wall thickening, but no lymphadenopathy or distant metastasis. Colonoscopy showed only a polyp in the transverse colon, with a histopathological diagnosis of adenoma. The clinical stage was T1a N0 M0 stage IA according to the Japanese Gastric Cancer Association staging system (14th edition). He underwent laparoscopy-assisted total gastrectomy with D1+ dissection and Roux-en-Y esophagojejunostomy. The resected specimen revealed numerous small and large polyps throughout the stomach and two elevated lesions in the corpus and angular region, respectively (Fig. ). Histopathological examination showed the polyps to comprise edematous lamina propria with hyperplastic foveolar epithelium and cystically dilated glands, indicating hamartomatous polyps (Fig. ). The elevated lesion in the corpus was a well-differentiated adenocarcinoma, restricted to the mucosa (Fig. ). The other elevated lesion in the angular region was a well-to-poorly differentiated adenocarcinoma invading the submucosa (Fig. ) with lymphatic permeation in the submucosa and muscularis propria detected by immunohistochemical staining with D2-40 (Fig. ). The carcinoma showed tubular formation in the mucosa (Fig. ), dedifferentiating gradually as it invaded the submucosa (Fig. ). Seven of 50 lymph nodes were metastasized by carcinoma cells, which was histopathologically similar to the primary tumor (no. 4d and 7). The final pathological stage was T2 N3 M0 stage IIIA. After receiving informed consent, we analyzed the patient’s genomic DNA to obtain a definitive diagnosis of hamartomatous polyposis. Genomic DNA was extracted from formalin-fixed, paraffin-embedded specimens of hamartomatous polyps and carcinoma, and target genes were comprehensively analyzed by next-generation sequencing with a multiple cancer-associated gene panel. The analysis identified somatic mutations in APC, KRAS, TP53, and ERBB2 genes in carcinoma, but failed to detect any germline mutations, including in SMAD4, BMPR1A, or PTEN, in hamartomatous polyps and carcinoma. However, based on the few characteristic physical findings and the histopathological features of the polyps, the final diagnosis was juvenile polyposis restricted to the stomach with gastric cancers. The patient was discharged on postoperative day 8 and has been monitored carefully with no adjuvant chemotherapy, by his request. There is no evidence of recurrence 16 months after surgery. | [[63.0, 'year']] | M | {'7665626': 1, '18384004': 1, '14320675': 1, '14383952': 1, '11381269': 1, '1200496': 1, '15221557': 1, '25390638': 1, '9389980': 1, '16246179': 1, '7496832': 1, '17768394': 1, '10207245': 1, '14526373': 1, '2853131': 1, '11725472': 1, '17873119': 1, '17186346': 1, '3709320': 1, '28428902': 2, '7109958': 1, '25079317': 1, '14214792': 1, '2552848': 1, '8237087': 1, '11200904': 1, '28550623': 1, '15912976': 1, '9582123': 1, '9429144': 1, '15235019': 1, '30043121': 2} | {'5385889-1': 1} |
1,393 | 6058375-1 | 30,041,681 | comm/PMC006xxxxxx/PMC6058375.xml | Pure intravascular recurrence of CD5-positive diffuse large B-cell lymphoma primarily arising from the nasal cavities | A 72-year-old man visited a hospital with submental tumors without B symptoms. He and his family had no history of hematologic disease. Laboratory tests showed normal blood cell counts. There were no atypical cells in the peripheral blood. Serum lactate dehydrogenase (LDH) levels were within the normal range however, the soluble interleukin-2 receptor (sIL-2R) levels were elevated (1095 U/mL). The computed tomography (CT) scan showed tumorous masses in the nasal cavities (40 × 26 mm) and the paranasal sinuses, submental masses (right 23 × 15 mm, left 19 × 11 mm), and enlarged multiple jugular lymph nodes. Positron emission tomography/CT (PET/CT) showed abnormal uptake of 18F-Fluorodeoxyglucose (FDG) in each lesion. The maximum standardized uptake values for the bilateral ethmoid sinuses and right submental masses were 13.0 and 4.4, respectively (Fig. ).\nThe histology of the biopsy from nasal cavity masses showed diffuse infiltration of large lymphoid cells with centroblast-like or immunoblast-like features. In immunohistochemistry the large lymphoid cells were positive for CD20, CD79a, CD5, bcl-2, bcl-6, and MUM-1 and negative for CD3, CD10, cyclinD1, CD56, SOX11, and TIA-1 (Fig. ). The Ki-67 labeling index was approximately 90%. Moderate level of c-myc protein was observed in about 60% of tumor cells. Weak to intermediate expression of cyclin D2 was observed in only 10% of tumor cells. In situ hybridization investigations for Epstein-Barr virus (EBV) encoded small RNA did not detect EBV. IGH-BCL2 translocation was not detected by polymerase chain reaction. No break of MYC and BCL6 were detected by fluorescent in situ hybridization. G-banding investigation showed the following karyotype: 46, XY, − 6,add(9)(p22), add(12)(p13), − 19, add(22)(q13), +mar1, and + mar2. G-banding, flow cytometry analysis, and cytological examinations on bone marrow smear specimens did not reveal involvement of lymphoma cells. Thus, a diagnosis of CD5-positive DLBCL (non-germinal center B-cell like type according to Hans algorithm) of the nasal cavity was established. After administration of 8 cycles of R-THPCOP (rituximab, pirarubicin, cyclophosphamide, vincristine and prednisolone) with 3 cycles of intrathecal chemotherapy, consisting of methotrexate and cytarabine, complete remission was achieved. Eight months after the first chemotherapy administration, local recurrences occurred in the left nasal cavity, left submental node, bilateral internal jugular nodes, and epipharynx. The patient was therefore given 4 cycles of the DeVIC regimen (dexamethasone, etoposide, ifosfamide and carboplatin) as salvage therapy.\nAlthough abnormal 18F-FDG uptake on PET/CT disappeared from the nasal cavities and the paranasal sinuses after the second round of therapy, the patient suffered from respiratory disturbance, fever and general fatigue without lymph node swelling. Laboratory tests showed normal white blood cell counts, anemia (hemoglobin 8.2 g/dL), and thrombocytopenia (51 × 103/μL). Serum levels of LDH, sIL-2R, and ferritin were elevated (757 U/L, 5770 U/ml, and 1681 μg/L, respectively). CT images showed splenomegaly, but no tumorous lesion anywhere in the body. No apparent recurrence was observed in imaging studies, but there were elevated levels of serum markers and respiratory disturbance of uncertain cause, which clinically suggested intravascular recurrence of CD5-positive DLBCL. Therefore, a random skin biopsy was performed. The random skin biopsy of the left thigh revealed atypical large lymphoid cells within the lumens of the small blood vessels in the deep dermis and subcutis. Tumor cells were localized in intravascular spaces and did not invade the extravascular stroma. In immunohistochemical analyses, these cells showed positive expression for CD79a, PAX5, CD5, bcl-6, and MUM-1 and negative expression for CD20, CD3, CD4, CD8, and CD10 (Fig. ). The positivity rate of cyclin D2 was less than 1%. Bone marrow smear specimens showed hemophagocytosis (HPC) (Fig. ). According to proposed hemophagocytic lymphohistiocytosis diagnostic criteria by Filipovich et al [], hemophagocytic lymphohistiocytosis was clinicopathologically diagnosed. Lymphoma cells were not detected in smear and histological specimens from the bone marrow biopsy, but G-banding of bone marrow cells showed complex karyotypes, suggesting a minimal residue of neoplastic cells in the bone marrow. The histological diagnosis was the Asian variant of intravascular lymphoma, which was suspected to be the purely intravascular recurrence of CD5-positive DLBCL primarily arising from nasal cavities. The patient died 3 weeks after the recurrence was diagnosed. | [[72.0, 'year']] | M | {'20231297': 1, '21199885': 1, '15461623': 1, '11706077': 1, '23675804': 1, '17488659': 1, '28878900': 2, '20008190': 1, '15115829': 1, '34193753': 1, '34136342': 1, '15920548': 1, '17577023': 1, '23488602': 1, '7541611': 1, '15886317': 1, '18556402': 1, '16985183': 1, '21157413': 1, '28278725': 1, '25760242': 1, '11806981': 1, '21914155': 1, '30041681': 2} | {'5582220-1': 1} |
1,394 | 6058415-1 | 30,057,924 | comm/PMC006xxxxxx/PMC6058415.xml | Thrombus in the Right Coronary Sinus of Valsalva Originating From the Left Atrial Appendage Causing Embolic Inferior Wall Myocardial Infarction | An 84-year-old woman with hypertension presented to the emergency department with epigastric pain, nausea, and dizziness for 3 hours. A 12-lead electrocardiogram showed a junctional rhythm at rate of 40 and 2 mm inferior ST-elevations with lateral ST depressions. High-sensitivity troponin-I level was 0.01 ng/mL. Initial management included aspirin, clopidogrel, and intravenous heparin, and she was subsequently taken emergently to the catheterization laboratory. Attempts to engage the right coronary artery (RCA) were unsuccessful despite using multiple guide catheters. The left coronary system showed no angiographic evidence of coronary artery disease with left to right collaterals. Contrast injection in the right coronary sinus suggested ostial total occlusion of the RCA (). Probing with a coronary wire near where the RCA ostium was presumed to be located was associated with an increase in the heart rate with an idioventricular rhythm and resolution of inferior ST-elevation. The RCA was then easily engaged with a guide catheter. Angiographic evaluation of the RCA showed a smooth vessel with no evidence of coronary artery disease except for abrupt termination of the distal PL2 branch (). A computed tomography angiogram was then done to explore the cause of the right ostial occlusion and revealed an aortic root thrombus (21 × 16 mm) with extension into the right coronary sinus, together with near complete obliteration of the left atrial appendage with another large thrombus ( and ). Serial electrocardiograms demonstrated paroxysmal atrial fibrillation with complete resolution of inferior ST-segment elevation. Subsequent troponin-I levels peaked at 74 ng/mL. A transthoracic echocardiogram showed inferobasal septal hypokinesis and ejection fraction of 45%. A brain magnetic resonance imaging obtained secondary to mental status changes that occurred a few hours after the procedure showed multiple embolic cerebral infarcts and complete occlusion of the left internal carotid artery. The patient was treated with intravenous heparin and bridged to warfarin therapy. She was discharged home in good condition on hospital day 5. Follow-up 6 months after the index hospitalization revealed no symptoms or signs of disease recurrence. | [[84.0, 'year']] | F | {'17010548': 1, '8868991': 1, '21871252': 1, '9236447': 1, '10807742': 1, '8458367': 1, '19687158': 1, '3773130': 1, '27325808': 1, '21545519': 1, '10722531': 1, '17588374': 1, '11790580': 1, '7801855': 1, '7648691': 1, '14752493': 1, '26216084': 1, '16529145': 1, '26728032': 1, '33133369': 1, '22929167': 1, '19273726': 1, '20460343': 1, '22811418': 1, '30057924': 2} | {} |
1,395 | 6058420-1 | 30,057,925 | comm/PMC006xxxxxx/PMC6058420.xml | Incomplete Kawasaki Disease in an Adult South Asian Patient | A 29-year-old South Asian male with no significant medical history presented to the emergency department with a 14-day symptom complex of persistent, high-grade fever refractory to antibiotics and antipyretics, malaise, and anorexia with a 10-pound weight loss. There were no recent medications, ill contacts, or travel history. His vital signs affirmed normotensive blood pressures, a resting sinus tachycardia of 110 beats per minute, and pulse oximetry of 98% on room air with a mild pyrexia of 38.8°C. Physical examination revealed bilateral conjunctivitis with chemosis, a strawberry tongue glossitis, palmar desquamation, and ichthyosis (see , respectively). There was no evidence of lymphadenopathy or dermatologic manifestations, such as rash.\nRecent pertinent laboratory investigations (see ) included a leukocytosis and notable thrombocytosis, normal comprehensive metabolic panel, markedly elevated inflammatory markers of erythrocyte sedimentation rate, and C-reactive protein. An extensive infectious disease diagnostic workup indicated negative blood, urine, and stool cultures and normal tests for human immunodeficiency virus, mycobacterium tuberculosis, hepatitis B and C, influenza A and B, adenovirus, echovirus, coxsackie virus, dengue, malaria, leptospirosis, mycoplasma, legionella, Epstein-Barr virus, cytomegalovirus, and Clostridium difficile toxin. An in-depth immunological panel revealed no evidence of vasculitides or rheumatological disease, such as systemic lupus erythematosus, rheumatoid arthritis, Sjogren’s syndrome, polyarteritis nodosa, the polyangiitis spectrum, and cryoglobulinemia. A potential adverse drug reaction was not entertained as the patient was not administered any recent therapeutic or complementary alternative agents. Cardiovascular testing with both an electrocardiogram and echocardiogram were normal and advanced imaging with a pan-body computed tomography scan was also unremarkable. He was deemed to have an incomplete presentation of KD and was initiated on high-dose enteric-coated aspirin (Bayer HealthCare Pharmaceuticals LLC, Berlin, Germany) 325 mg every 8 hours, as well as single infusion of intravenous immunoglobulin (GammaGard, Baxter International Inc, Glenview, IL) at a dose of 2 g/kg over a 12-hour period. Subsequently, his clinical syndrome gradually resolved over the ensuring hospitalization as his pyrexia de-effervesced along with steady improvement of his inflammatory markers. He did not receive any glucocorticoids or immunomodulating therapies. He was safely discharged after 1 week of inpatient care on low-dose aspirin monotherapy with gastroprotective proton-pump inhibitors and subsequently scheduled for a dedicated cardiac computed tomography angiogram that did not reveal any CAAs at a later outpatient clinic appointment (2 weeks from index hospitalization). | [[29.0, 'year']] | M | {'9832593': 1, '19909871': 1, '29322700': 1, '28751537': 1, '1709446': 1, '17054199': 1, '28237455': 1, '28356445': 1, '27749951': 1, '25890055': 2, '20109049': 1, '10835091': 1, '20453601': 1, '2426590': 1, '23020938': 1, '18533938': 1, '23588962': 1, '24485156': 1, '11380911': 1, '12949272': 1, '15942913': 1, '17443379': 1, '6062087': 1, '30057925': 2} | {'4403952-1': 1} |
1,396 | 6058470-1 | 30,079,241 | comm/PMC006xxxxxx/PMC6058470.xml | Case Report: First report of\nElizabethkingia miricola infection in a patient with cystic fibrosis | A 49-year-old male with a diagnosis of CF presented to his routine CF outpatient department complaining of feeling generally unwell. He reported increased cough, but this was predominantly non-productive. There was a drop in lung function, from a baseline forced expiratory volume in one second (FEV1) of 2.39 l (65% of the predicted volume) to 2.19 l (60% predicted). A sputum sample was obtained following chest physiotherapy and sent for routine culture on blood agar, chocolate agar, Sabouraud agar, Staphylococcus agar, m-Kleb agar and cepacia selective agar. Given the non-specific symptoms and mild drop in FEV1, it was agreed that no immediate treatment was required and a follow-up in 4 weeks’ time was arranged.\nCo-morbidities of the patient included osteoporosis and pancreatic insufficiency; he was also receiving maintenance treatment for allergic bronchopulmonary aspergillosis (ABPA) in the form of oral anti-fungal therapy and long-term low-dose oral corticosteroids. Cultured respiratory samples in the previous year had consistently grown non-epidemic\nPseudomonas aeruginosa. The patient was receiving a continuous alternating inhaled anti-pseudomonal antibiotic regime in the form of tobramycin (TOBI 300mg BD) and aztreonam lysine (Cayston 75mg tds). The diagnosis of CF was made in adulthood and was based upon the presence of bilateral upper zone bronchiectasis on a chest CT scan and a raised sweat chloride level following a sweat test. Initial genetic testing revealed one copy of the F508del mutation, a second mutation was not identified despite extended screening. Family history included a younger sister who had died aged 23 years from pancreatitis. Serum immunoglobulin testing at the annual screen performed two months prior was within normal limits aside from a chronically raised IgG anti-aspergillus of 154 mg/L.\nA sputum sample taken at the clinic appointment was positive for\nP. aeruginosa, and extended 10 day incubation on cepacia selective agar resulted in isolation of a cream coloured colony. The colony was identified as\nElizabethkingia miricola by MALDI-TOF (matrix-assisted laser desorption/ionisation time-of-flight) mass spectrometry. At the next appointment, worsening symptoms were observed, including increasing shortness of breath, wheeze and productive cough. There was a further drop in FEV1 to 1.91 L (52% predicted) (\n). An oral course of chloramphenicol (500 mg four times a day) along with prednisolone (30 mg daily) for 2 weeks was commenced and a further sputum sample was obtained. Chloramphenicol was chosen empirically based on a previously observed clinical response to the agent and also patient preference to avoid ciprofloxacin due to skin photosensitivity. The sputum culture taken prior to treatment initiation was again positive for\nP. aeruginosa and\nE. miricola.\nA further 4 weeks later, symptoms were somewhat improved and FEV1 had increased to 2.19 l (60% predicted). However, another 2 weeks later, symptoms deteriorated again, with an associated decline in lung function (FEV1, 1.95 l; 53% predicted). Sputum cultures from the previous encounter were again positive for\nP. aeruginosa and\nE. miricola. Sensitivities from previous samples revealed\nE. miricola resistant to meropenem and ceftazidime, but sensitive to piperacillin/tazobactam and ciprofloxacin (CIP). A 2-week course of oral CIP (750 mg thrice daily) was therefore commenced.\nThe patient noted an improvement in symptoms and at the next clinic appointment FEV1 had improved to 2.08 l (57% predicted). Sputum then grew\nP. aeruginosa and yeast only. A further four subsequent sputum samples 1, 4, 8 and 12 months later have grown\nP. aeruginosa but no\nE. miricola, and lung function returned towards baseline. | [[49.0, 'year']] | M | {'30651388': 1, '31641424': 1, '32154692': 1, '34568756': 1, '23966494': 1, '14666980': 1, '18842380': 1, '26337359': 1, '26607230': 1, '28560237': 2, '28098550': 1, '30079241': 2} | {'5434319-1': 1} |
1,397 | 6059516-1 | 30,050,743 | comm/PMC006xxxxxx/PMC6059516.xml | A Case of Multiple Myeloma Associated with Extramedullary Plasmacytoma of the Gallbladder Manifesting as Acute Cholecystitis | A 66-year-old African American female with a past medical history of refractory immunoglobulin G (IgG) lambda MM, essential hypertension, and chronic kidney disease presented to the emergency department with five days of right upper quadrant pain.\nHer MM was diagnosed one year prior when she presented with altered mental status, uremia, hypercalcemia, hypoalbuminemia, and paraproteinemia. A skeletal survey at that time revealed multiple thoracic spinal lytic lesions and an eroding soft tissue mass at the level of T10. Further evaluation revealed a very high IgG level, elevated M protein band, and a kappa/lambda ratio <0.01 (normal 0.26-1.65). A biopsy from the soft tissue mass revealed a plasmacytoma. Radiation therapy was initiated for 10 days. She received three cycles of bortezomib and dexamethasone followed by two cycles of bortezomib, dexamethasone, and lenalidomide. Her disease progressed, and a subsequent bone marrow biopsy revealed hypercellular bone marrow with 70% atypical plasma cells. The patient subsequently received seven cycles of carfilzomib, lenalidomide, and dexamethasone. She was not a candidate for bone marrow transplantation given the high plasma cell burden.\nOn her current presentation, the pain was sudden in onset, intermittent, worse with eating, and without radiation. The pain was associated with nausea and anorexia, but she was without any change in bowel habits. She denied any previous similar episodes. Upon physical exam, the patient was in distress but remained alert and oriented. Her vital signs were all stable. She exhibited right upper quadrant abdominal tenderness without rebound or guarding. Her initial labs are presented in Table . The patient was admitted to the hospital for further evaluation of her abnormal labs and supportive treatment.\nThe patient was started on intravenous hydration and was made nil per os. An abdominal ultrasound revealed a distended GB with sludge (Figure ). The GB wall was thickened up to 9.5 mm, and the sonographic Murphy sign was positive. The common bile duct and common hepatic duct measured 6.3 mm and 3 mm, respectively. The liver measured 18.3 cm and exhibited normal echogenicity. There were no intraparenchymal masses or fluid collections. The portal and hepatic veins were patent.\nThe patient was diagnosed with acute cholecystitis. Intravenous piperacillin-tazobactam 3.37 g every eight hours was initiated, and the patient was referred for open cholecystectomy given her overall condition and lactic acidosis. Intra-operatively, the GB was thickened and firm but not overly distended or perforated. The GB was dissected from the liver edge, and a liver biopsy was performed successfully.\nThe pathology report from the cholecystectomy revealed chronic cholecystitis with involvement of the GB submucosa and serosa by abnormal plasma cells with lambda light chain restriction (Figure ). Subsequently, Congo red stain of the GB sections revealed apple-green birefringence throughout the submucosal areas consistent with amyloid deposits. The liver biopsy exhibited abnormal plasma cells in periportal locations with lambda light chain restriction as well; Congo red stain was not done on the liver sample.\nThe patient declined any further treatment for MM and decided to proceed with hospice care. She was discharged home with comfort measures. | [[66.0, 'year']] | F | {'26730235': 1, '11279649': 1, '20194150': 1, '22410751': 1, '19541364': 1, '17357904': 1, '23545686': 1, '22816242': 1, '5249495': 1, '25830051': 1, '20572800': 1, '11904319': 1, '15009059': 1, '9711912': 1, '15491289': 1, '8580064': 1, '19294871': 1, '28055103': 1, '25439696': 1, '30050743': 2} | {} |
1,398 | 6059518-1 | 30,050,731 | comm/PMC006xxxxxx/PMC6059518.xml | Bilateral Thalamic Ischemic Stroke Secondary to Occlusion of the Artery of Percheron | A 62-year-old woman with a past medical history of hypertension is admitted to the emergency room due to altered mental status noticed on awakening. She was somnolent, bradycardic and hypertensive, with a heart rate of 50 beats/min and blood pressure of 165/82 mmHg. On the neurological exam, the patient had a Glasgow Coma Scale (GCS) of 12 points (ocular: three points, verbal: four points, motor: five points), the patient was apathetic with non-fluent speech and normal nomination; no other abnormalities were found. The laboratory workup at admission was normal. An emergency brain computed tomography (CT) showed bilateral thalamic hypodensities. A 12-lead electrocardiogram, chest X-ray, transthoracic echocardiogram, carotid and vertebral Doppler ultrasound were performed, all of them reported normal. Magnetic resonance imaging (MRI) of the brain showed bilateral thalamic hyperintensities in diffusion-weighted imaging (DWI), T2 and fluid-attenuated inversion recovery (FLAIR) sequences (Figure ).\nThe etiology of the stroke remained cryptogenic after the approach. The patient was discharged after eight days with improvement in alertness. She persisted with episodes of somnolence, apathy, bradylalia and hypophonia without any motor deficit. | [[62.0, 'year']] | F | {'22661350': 1, '34721587': 2, '21780071': 1, '17494659': 1, '29246631': 1, '23314026': 1, '15106015': 1, '12933968': 1, '34956778': 2, '20299438': 1, '21257930': 1, '26029025': 2, '24144596': 1, '19007957': 1, '32618485': 2, '19155381': 1, '23139104': 1, '4126735': 1, '30050731': 2} | {'7336829-1': 1, '7336829-2': 1, '7336829-3': 1, '8556118-1': 1, '8693548-1': 1, '4387990-1': 1} |
1,399 | 6059519-1 | 30,050,744 | comm/PMC006xxxxxx/PMC6059519.xml | Intraneural Posterior Interosseous Nerve Lipoma with Complete Paralysis: Case Report and Review of the Literature | A 66-year-old gentleman presented with a four-month history of a progressive weakness of finger extension involving all digits of the right hand. On initial clinic evaluation, he had 0 out of 5 strength in the extension of all fingers, including the thumb, but without any weakness of wrist extension. A radial deviation of the wrist was not documented. He did not have any pain or numbness. Electromyography (EMG) and nerve conduction study (NCV) showed posterior interosseous nerve (PIN) entrapment at the arcade of Frohse (AF). Magnetic resonance imaging (MRI) showed a homogeneously hyperintense lesion within the supinator muscle on T1-weighted imaging (Figure ).\nThe lesion measured 3 cm medial to lateral, 1.5 cm in depth, and 3.3 cm anterior-posterior. Mass effect was seen on the neurovascular bundle at the AF. A 10-cm incision was made along the posterior border of the brachioradialis (BCRL) muscle (Figure ).\nThe fascia in between the brachioradialis (BCRL) and extensor carpi radialis longus (ECRL) was incised and a plane was developed using blunt dissection (Figure ).\nThe fascia of the extensor carpi radialis brevis (ECRB) was divided sharply and the lipoma was visible, arising deep to the superficial head of the supinator (Figure ).\nThe radial nerve bifurcation into the superficial radial nerve and PIN was identified. The AF and the superficial head of the supinator muscle were divided until the lipoma was fully exposed (Figure ).\nThe PIN was draped across the outer surface of the lipoma and then continued its course deep to the remaining superficial head of the supinator (Figure ).\nThere was a swelling of the PIN proximal to its compression site by the lipoma and the AF. The PIN nerve fibers appeared slightly spread at the attachment site of the lipoma. The PIN was stimulated with a nerve stimulator probe and there was no response distally. We did external neurolysis and swept the PIN laterally to allow for the complete excision of the lipoma (Figure ).\nPathology revealed mature adipose tissue consistent with lipoma without any nerve fibers. At a four-month follow-up visit, the patient regained 4 out of 5 strength of finger extension in all digits. | [[66.0, 'year']] | M | {'16007369': 1, '4015361': 1, '27177178': 1, '27142825': 1, '21119834': 1, '28289621': 2, '24634698': 2, '16106500': 1, '24115878': 1, '8836068': 1, '6473564': 1, '22705575': 1, '12475510': 1, '18070639': 1, '21705739': 1, '29128312': 1, '33614353': 2, '26213698': 1, '26141026': 1, '20295761': 1, '21169305': 1, '30050744': 2} | {'7888684-1': 1, '5339617-1': 1, '3953546-1': 1} |
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