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[
{
"age": null,
"case_id": "PMC10201373_01",
"case_text": "A male infant with a history of a prenatally detected left suprarenal mass was addressed to the surgical unit. Antenatal ultrasonography at 22 WA disclosed a cystic left suprarenal mass about 2 cm in diameter. The fetal magnetic resonance imaging (MRI) showed a 20x13 mm non-calcified cystic mass of the left adrenal gland, compatible with a neuroblastoma (Figure 1). Vaginal delivery was uneventful.\nResults of routine laboratory tests including complete blood count, blood biochemistry, and urinalysis were normal, except for a major iron-deficiency anemia. Ultrasonography at 1 months of life showed an anechogenic image of the left adrenal gland of 17x12 mm, with thin walls (Figure 2).\nIn the 9 months interval between the birth's ultrasound and the last imaging, the mass minimally diminished in size and stabilized at about 2 cm.\nThe infant was closely monitored during his first year of life and in the absence of symptomatology or significant regression of the mass, we decide to proceed with its removal.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC10201373_02",
"case_text": "We performed a preoperative CT which showed a partially cystic 20 x 22 mm mass in the left adrenal region, non-enhanced, without calcification (Figure 3). It was therefore decided to surgically remove the tumor. An uneventful laparoscopic adrenalectomy was performed. The patient was monitored for 24 hours, restarted alimentation immediately after surgery, and was discharged in good general conditions at 48 hours. The patient had no symptoms during 5 months of follow-up.\nThe pathological result described a mass with mixed composition of ciliated columnar epithelium of the respiratory type, well differentiated cartilaginous structures as well as small seromucous glands. The specimen was diagnosed as a mature cystic adrenal teratoma, without any suspicious sign of malignancy, which was completely resected (Figure 4).",
"gender": "Unknown"
}
] |
PMC10201373
|
[
{
"age": 8,
"case_id": "PMC7406448_01",
"case_text": "Our patient was an 8 years old child with a history of epilepsy. She experienced her first seizure at the age of 5 years. She had a normal neuropsychological development. There was no family history of epilepsy. The physical examination was normal. Her seizures began with what it was described as <<weird feeling>> and then followed by automatism (chewing). This seizure lasted about 1 minute and 30 seconds. Our patient expressed total amnesia of her seizures. 1.5 Tesla MRI revealed a small round cyst in the right choroidal fissure of the temporal horn compressing the hippocampus. The signal intensity of the cyst was hyposignal T1 (Figure 1), hypersignal T2 (Figure 2), no restriction of apparent diffusion coefficient (ADC), identical to that of the cerebrospinal fluid (CSF). There was no peripheral contrast enhancement or surrounding edema (Figure 3). Based on the MR features, the presumptive diagnosis of a choroidal fissure cyst was made and seizures were medically controlled by Carbamazepine.",
"gender": "Female"
}
] |
PMC7406448
|
[
{
"age": 24,
"case_id": "PMC7204375_01",
"case_text": "A 24-year-old Hispanic male presented to outpatient clinics with a past medical history of a persistent cough and shortness of breath for 10 years. Recently, his symptoms progressively worsened to chronic hypoxemic respiratory failure. He required long-term supplemental oxygen therapy of 5 liters/minute by nasal cannula and high flows of up to 15 liters/minute during pulmonary rehabilitation. His pulmonary function tests revealed a markedly decreased forced vital capacity (FVC) and diffusing capacity of the lung for carbon monoxide (DLCO), which were only 35% and 34% of predicted, respectively. Computed tomography (CT) of the chest revealed diffuse ground glass opacities, punctate calcifications, and extensive subpleural cysts consistent with PAM (Figure 1). A prominent pulmonary trunk, right cardiac chamber dilation, and mild interventricular septum straightening suggested a component of pulmonary artery hypertension. Right heart catheterization confirmed pulmonary artery hypertension with normal cardiac output and cardiac index. Because of his progressive symptoms with significant oxygen requirements, he underwent bilateral lung transplantation.\nGross examination of the bilateral pneumonectomy specimens revealed enlarged lungs (right lung 1750 grams, left lung 1438 grams). The pink-tan pleural surfaces had multiple small plaque-like structures. The cut surfaces were pink-red and spongy with a gritty, sand-like texture (Figure 2). Hematoxylin- and eosin-stained sections revealed the characteristic diffuse intra-alveolar lamellar microliths (Figure 3). The background lung parenchyma showed interstitial fibrosis, numerous hemosiderin-laden macrophages, interstitial inflammation, and acute pleuritis.\nHis lung transplantation was complicated by intraoperative hemorrhage requiring >20 units of red cells and various other blood products. His hospital course was complicated by persistent leukocytosis and stenosis to the left mainstem bronchus, mucosal ischemia, and recurrent mucous plugging requiring repeated bronchoscopies. At 1 year post transplant, his pulmonary function tests revealed an improved FVC and DLCO of 50% and 76% of predicted, respectively. Since PAM has an autosomal pattern of inheritance, family screening was being considered for this patient.",
"gender": "Male"
}
] |
PMC7204375
|
[
{
"age": 26,
"case_id": "PMC5757404_01",
"case_text": "A primiparous 26-year-old patient, with unremarkable personal medical history, was referred to our center. In her family history, we noted that her sister has esophagus atresia associated with situs inversus and primary ciliary dyskinesia.\nThe first-trimester ultrasound screening at 12 weeks and 4 days of gestation revealed a hyperechoic aspect of the entire right lung, which led us to suspect a unilateral pulmonary pathology (Figure 1A, 1B). Nuchal translucency was measured at 0.9 mm for a cranio-caudal length at 62.5 mm. Regarding the precocity of this abnormality, the retained hypothesis was bronchial atresia, pulmonary sequestration, or CCAM.\nThe second-trimester test was based on the level of the maternal serum free-beta-hCG (1.04 multiples of the median [MoM]) and on alpha-fetoprotein (AFP) (0.90 MoM).\nAn ultrasound scan at 21 weeks described the same hyperechoic aspect of the entire right lung associated with discrete mediastinal and heart deviations with hydramnios. The patient was then referred to our department at 25 weeks of gestation. A hyperechoic right intra-pulmonary image, with left heart and aorta deviations, a right diaphragmatic dome eversion, and hydramnios, were confirmed. The color Doppler imaging showed homolateral pulmonary vessels vascularization. There was no Doppler flow evidence of a systemic arterial supply to the lesion. The left lung was compressed by mass effect (27x14 mm) (Figure 1C, 1D).\nAn amnio-drainage of 2500 ml of amniotic fluid and a karyotype were performed the same day. A few hours after puncture, a premature rupture of membranes was observed and the patient requested a medical pregnancy interruption. The biochemical analysis of amniotic fluid and the karyotype were normal (46 XY). Medical pregnancy interruption was accepted in accordance with the French laws and was performed uneventfully.\nOn autopsy, the fetus was discovered to be a male weighing 1550 g. The external examination revealed abdominal distension. On internal examination, all organs were in situ. The pulmonary parenchyma of the right lung lower lobe consisted in microcysts of variable size; most of them were 0.5 cm, inducing a major right lung hypertrophy (49.1 g vs. 5.5 g of the left lung, normal=27+-7 g). This tumor compressed and latero-deviated to the left the mediastinum (heart, thymus, left lung) and caused an eversion of the right diaphragmatic dome. On histology, right lungs showed multiple cysts relatively uniform in size, lined by stratified columnar epithelium, and having thin fibromuscular septa. All other visceral organs were congested but well-developed and revealed no anomalies. Based on these features, a pathological diagnosis of CCAM Stocker type 3 was confirmed (Figure 2A-2C).",
"gender": "Male"
}
] |
PMC5757404
|
[
{
"age": 32,
"case_id": "PMC3924740_01",
"case_text": "A 32-year-old woman (gravida 4, para 2) visited our institution due to dyspareunia lasting for 5 months after her second delivery. Seven years before her visit, she delivered her first baby by Cesarean section due to progression failure. However, she succeeded in vaginal birth after a Cesarean delivery (VBAC) for her second delivery at another institution. She reported that during her second labor, she underwent numerous pelvic examinations because her labor did not progress smoothly. Finally, she underwent a vaginal delivery of a female infant weighing 3,580 g without applying vacuum or forceps. She did not visit at her scheduled postpartum examination after her second delivery, therefore, her perineal area was not explored after her vaginal birth.\nAfter her second birth, she experienced dyspareunia and her husband could not resume his sexual activity due to inability to achieve full penile insertion. Also, she reported the immediate leakage of semen after intercourse. In addition, her menstruation did not resume, but she attributed this phenomenon to breastfeeding. There was no abnormal finding in her vital signs and laboratory tests. However, it was hard to insert the speculum fully into her vagina because of her blind vagina canal. Also, her cervix could not be visualized by speculum examination. As a result of a thick transverse vaginal septum blocking her vaginal cavity, we could insert a speculum only 2 to 3 cm into her vagina (Fig. 1A). Transvaginal ultrasonography (Voluson 730 Expert, GE Medical Systems, Zipf, Austria) showed a transverse vaginal septum measuring 0.94 cm thick and a fluid-filled cavity beyond it (Fig. 1B). Vaginal adhesion was diagnosed and she was admitted for treatment of this rare condition.\nAfter hospitalization, prophylactic intravenous antibiotics (3rd-generation cephalosporin with metronidazole) were administered first. After the day of admission, the fluid in the obstructed vaginal cavity was aspirated and examined. This fluid was turbid and had a foul odor but no bacteria were found upon culture examination. With this aspiration, we excised the vaginal septum and sutured the remained edge of this septum to the vaginal wall using 2-0 Vicryl (Ethicon Inc., Somerville, NJ, USA) (Fig. 2). After the operation, we inserted Vaseline gauze into the vaginal cavity to prevent re-adhesion and hemorrhage. This packed gauze was maintained during the whole hospitalization period and changed every day. Antibiotics were administered intravenously for 5 days and she was discharged on day 5 after the operation. Three months following surgery, she noticed an improvement in her dyspareunia and resumed sexual activity. Pelvic examination revealed a well-maintained vaginal cavity.",
"gender": "Female"
}
] |
PMC3924740
|
[
{
"age": 40,
"case_id": "PMC8571307_01",
"case_text": "A 40-year-old male presented with spontaneous onset of SIH characterized by positional headaches for several months. His neurological exam was normal. The enhanced MRI of the brain showed diffuse pachymeningeal enhancement consistent with SIH [Figure 1]. The routine MRI of the lumbar spine was unremarkable; he had two blood patches performed, both with only transient relief of symptoms. However, the MR myelogram with digital subtraction images finally correctly documented a right-sided CVF at the L2 level [Figure 2]. The patient successfully underwent endovascular transvenous embolization (i.e., through the Azygous vein), and within two post procedural weeks, was asymptomatic [Figure 3].",
"gender": "Male"
}
] |
PMC8571307
|
[
{
"age": 61,
"case_id": "PMC3991122_01",
"case_text": "A 61-year-old male presented with recent-onset seizure. MRI revealed a non-enhancing 7.0 x 5.0 cm right frontotemporal mass. He did not receive any adjuvant therapy and the tumor subsequently recurred 3 years later at the age of 64 for which he underwent a second resection. The study was conducted in accordance with Institutional Review Board guidelines.\nImmunohistochemistry was performed using antibodies against glial fibrillary acidic protein (GFAP; prediluted, rabbit monoclonal; Ventana, Tucson, AZ, USA), p53 (clone BP53-11; Ventana; prediluted), Ki-67 (MIB1; Ventana; 1:1,000), and IDH1(R132H) (clone H09; Dianova; 1:50). Tissue macrodissection was performed on formalin-fixed paraffin embedded tissue, from the precursor low-grade glioma and from the glioma and sarcomatous components during progression. Samples were hybridized separately to a SNP array with 300,000 SNPs (Illumina, San Diego, CA, USA) as described elsewhere. Genes localized to regions with copy number alterations unique to the recurrent tumor were searched using the UCSC genome browser.",
"gender": "Male"
}
] |
PMC3991122
|
[
{
"age": 84,
"case_id": "PMC7368181_01",
"case_text": "An 84-year-old male ex-farmer was admitted to the orthopaedic department due to an inflamed subcutaneous mass in his left palm over the heads of the 3rd and 4th metacarpal bones (Figure 1). The lump was slightly tender on palpation without interfering with finger flexion. Mass was noticed 3 months before without trauma history and kept growing since then.\nRoutine blood investigation was normal. Plain radiographs revealed a nonradiolucent object 5 x 2 mm in size, located in the region of the mass. A well-defined, avascular, mass was depicted in the MRI.\nPatient was scheduled to be operated for an excisional biopsy of a hand soft tissue tumor. Intraoperatively, a thick-wall cyst containing brown-colored fluid, a metallic object, and various particles resembling rusty products, was excised (Figure 2).\nAfter describing our findings to the patient, he recalled a long-forgotten incidence during World War II, 75 years ago: a \"superficial\" gunshot injury in the palmar aspect of the wrist near its crease. Ricochet of a bullet caused a wound that was healed with no complication, leaving a hardly noticed scar.\nHistological examination of the excised mass confirmed our suspicion. The residual foreign body was a bullet which, being deposited subcutaneously in the palm of the hand for more than 70 years, had been subjected to excessive corrosion in the biological environment and progressively isolated in a granulomatous tissue capsule.\nThe postoperative healing was uneventful. On the follow-up examinations at the 1st, 3rd, and 6th month, no sign of inflammation or recurrence has been noticed and hand function was unproblematic. Further follow-up was considered unnecessary.",
"gender": "Male"
}
] |
PMC7368181
|
[
{
"age": 47,
"case_id": "PMC4492508_01",
"case_text": "A 47-year-old male presented with gradually progressing bilateral lower limb weakness and urinary incontinence for the past five months. No muscle wasting was noted on examination. Muscles of the calves and the thighs showed bilaterally increased tone with exaggerated ankle and knee jerk reflexes. Muscle power was assessed as grade 3-4 out of 5 according to Medical Research Council (MRC) grading. Patient had paresthesia in both lower limbs in non-dermatomal distribution. Laboratory investigations including a hemogram, renal, liver and thyroid function tests were unremarkable. Serum vitamin B12 levels were normal.\nMagnetic resonance imaging (MRI) of the dorsolumbar spine performed with a 1.5T scanner (Signa Excite 1.5T, GE) revealed bulky lower lumbar cord and conus medullaris with high T2 signal. Multiple intradural extramedullary areas signal void were seen from Th6 to S1 level (Figure 1), more abundantly on the left side of Th10-Th12, causing rightward displacement of the lower part of the spinal cord. Spinal cord exhibited intense, relatively homogenous enhancement after intravenous gadolinium injection (Figure 2). Subsequent spinal computed tomography angiography (CTA) was performed with a 16-slice scanner (Philips Brilliance 16, Philips Medical Systems) with nonionic iodinated contrast agent (Iohexol, 350 mg/mL) at dose of 2 mL/kg injected into the antecubital vein through pressure injector at a rate of 4 mL/sec with bolus tracking, with ROI placed over the abdominal aorta (scanning parameters: increment 1.0 mm, reconstruction interval 0.75 mm, slice thickness 2.0 mm, pitch 1.188, rotation time 0.75s, kVp 120, mA 200) CTA revealed an intradural extramedullary arteriovenous malformation (AVM) from Th10 to Th12 level (Figure 3) supplied by a branch of a great radicular artery (artery of Adamkiewicz). In our case it originated from the abdominal aorta on the left side and ran subcostally, entering the spinal canal through the Th12-L1 intervertebral foramen (Figures 4-6). The AVM drained into the right internal iliac vein through an elongated, tortuous venous channel. Adiagnosis of intradural perimedullary AVM with congestive myelopathy (Foix-Alajouanine syndrome) was made based on the findings.\nThe patient underwent digital subtraction angiography (DSA) - guided embolization of the AVM with 20-percent cyanoacrylate glue. Immediate postoperative period was uneventful. Postoperatively, over a period of 8 months of regular physiotherapy, the patient showed gradual mild improvement of symptoms, with muscle power of 3 to 4 acc. to MRC grading in both lower limbs. Postoperative MR imaging performed at eight months showed mildly thinned lower cord and conus medullaris with irregular surface and persistent intramedullary signal, which was likely due to gliotic changes in the cord.",
"gender": "Male"
}
] |
PMC4492508
|
[
{
"age": 5,
"case_id": "PMC7796826_01",
"case_text": "A 5-year-old male underwent a transanal laparoscopic assisted Soave pull-through as a newborn. At 1 year of age, he presented with daily obstructive symptoms of distention and bloating. He suffered from three episodes of enterocolitis, each requiring hospital admission. At an outside hospital, he underwent an examination under anesthesia and a full thickness rectal biopsy with findings of an intact dentate line, no anastomotic stricture, and a palpable Soave cuff on the anterior rectal wall only. His rectal biopsy showed ganglion cells, normal size nerve fibers, normal anticholinesterase reaction, a normal calretinin staining pattern, and his contrast study was felt to be normal. The patient also underwent colonic manometry testing which showed diffuse colonic dysmotility. Based on this result, an ileostomy was recommended.\nThereafter, the patient thrived. The patient then returned for a planned repeat manometry study 6 months later which now showed normal motility, and the recommendation was to close the ileostomy. Prior to closing the ileostomy, the family sought a second opinion.\n Our review of the post pull-through contrast enema ( Fig. 1 ) came to a different conclusion. We felt the study showed a 180-degree twist in the distal pull-through ( Fig. 1 ). This was demonstrated by the shift in the antimesenteric border of the colon. We also felt that the twist was intermittent since the contrast study did not demonstrate bowel dilatation proximal to the twist. Since this patient had a previous Soave pull-through, it was also important to note the presence of presacral space widening ( Fig. 2 ), which could be indicative of a Soave cuff; however, this was not evident on the physical exam. Our repeat examination under anesthesia and rectal biopsy confirmed the findings from the outside hospital of no circumferential Soave cuff; however, we were unable to pass a digit or a Foley catheter freely into the pelvis. Given the recurrent obstructive symptoms that occurred prior to the ileostomy and the concerns on the contrast study and exam, we offered the patient a reoperation. We performed a Swenson type redo transanal only pull-through and upon transanal mobilization the distal pull-through was noted to have a 180-degree twist, with the mesentery on the anterior side when it should have been either medial or posterior ( Fig. 3 ). We untwisted the pull-through and redid the coloanal anastomosis and confirmed no twist by freely passing the foley catheter into the pelvis. The patient did well postoperatively and was discharged home on postoperative day 4. He was seen for a follow-up at 1 month, which showed a well-healed pull-through with no anastomotic stricture and his ileostomy was closed. He continues to thrive with no distention or bloating, and stools one to two times daily with control, now 1 year after his ileostomy closure.",
"gender": "Male"
}
] |
PMC7796826
|
[
{
"age": 1,
"case_id": "PMC4150516_01",
"case_text": "This is a fifty-one-year-old obese and hypertensive female who presented with a painful mass at her left upper abdominal quadrant and lower chest for about 24 hours. In addition to pain, she complained of nausea but denied vomiting or changes in bowel habits. She reported a history of stab injury to her left chest about fifteen years ago. She has had this mass for several years but had remained asymptomatic. Workup by her primary care in the past including a computed tomography (CT) scan concluded that the mass was most likely a lipoma.\nOn physical examination, the patient was noted to be obese with a tender, firm, and nonreducible mass at the left upper quadrant and lower chest measuring about 8 x 8 cm. A new CT scan was obtained showing an abdominal intercostal hernia between the 11th rib and 10th rib. The hernia content was comprised of omentum, and no evidence of a diaphragmatic defect was seen on CT (Figures 1 and 2).\nThe patient was taken to the operative room where she was placed in a right lateral position. Under general anesthesia an incision was made over the hernia along the intercostal space. The hernia sac was identified and dissected clean of the surrounding subcutaneous tissue (Figures 3 and 4).\nThe hernia sac was opened and found to contain omentum, which was reduced back into the peritoneal cavity. The sac was subsequently excised, exposing a clear defect between the tenth rib and eleventh rib (Figure 5).\nA self-expanding polypropylene and ePTFE hernia patch (VENTRALEX Hernia Patch) (Figure 6) was then used to secure the defect, and the fascia of the intercostal and external oblique was approximated on top of the mesh using interrupted Vicryl stiches (Figure 7). The patient's postoperative course was uneventful and was discharged home on postoperative day two.",
"gender": "Female"
}
] |
PMC4150516
|
[
{
"age": 85,
"case_id": "PMC5922340_01",
"case_text": "An 85-year-old female of English heritage presented with a 3-day history of increasing right-sided pleuritic chest pain associated with increased shortness of breath and increased non-productive cough. There was no fever or increased sputum production. The patient did not report diarrhoea, abdominal or flank pain on admission, or in the 12 months leading to admission. Significant past medical history included left ventricular heart failure complicated by previous presentations with right-sided pleural effusions requiring thoracocentesis. Thoracocentesis 1 month before this admission had shown a transudative picture with no bacterial growth on culture. Other clinical history included ischaemic heart disease, severe mitral valve stenosis, atrial fibrillation, hypertension, mild neutropenia (1.25 x 109/l), pending bone marrow aspirate, and Streptococcus gallolyticus subsp. gallolyticus infective endocarditis in 2010. There was no suggestion of prior S. enterica infection, cholelithiasis or urolithiasis. There was no history of travel outside Australia in the preceding 12 months.\nPhysical examination revealed an oxygen requirement (4 litres to maintain saturations greater than 95%), respiratory rate of 16 breaths/min, tachycardia (100-120 beats/min, irregular), normal blood pressure (120/70 mmHg) and afebrile. Cardiovascular examination revealed a jugular venous pressure elevated at 7 cm and a Grade 3 pansystolic murmur over the mitral region, radiating to the axilla. Respiratory examination revealed dullness to percussion in the right middle to lower zones, with reduced breath sounds noted in the same area. The abdomen was soft on palpation and no tenderness was elicited. There was bilateral pitting oedema to the level of the knees. Initial pathology revealed a normal white blood cell count of 2.7 x 109/l with 46% (1.25 x 109/l) neutrophils and 30% (0.82 x 109)/l lymphocytes. C-reactive protein (CRP) was elevated at 268 mg/l.\nThe chest radiograph revealed opacification of the lower two-thirds of the right hemithorax, with loss of the right costophrenic angle. Underlying collapse was also noted. The chest radiograph can be viewed in Figure 1. A thoracocentesis was subsequently performed. Analysis of pleural fluid revealed a white cell count of 1,350 x 106/l, a protein concentration of 35 g/l, and a lactate dehydrogenase level of 590 U/l. These values were consistent with exudate. The pH of the sample was 7.1, indicating empyema. Gram-negative bacilli were seen in a Gram-stained film of the fluid. A second thoracocentesis was performed 2 days later, again showing Gram-negative bacilli. Subsequent cultures grew S. enterica serovar Typhimurium. Three sets of blood cultures and 2 stool cultures taken prior to starting antibacterial therapy were negative for S. enterica. \nThe intended management of the patient included insertion of a chest tube (tube thoracostomy), and a 4-to 6-week course of ceftriaxone, depending on clinical response. However the patient declined a chest drain, and wished to cease ceftriaxone after two days. The patient received palliative care aiming for symptom control. Challenges included the management of severe right sided pleuritic chest pain, dyspnoea and nausea, requiring continuous subcutaneous infusion of fentanyl, haloperidol and maxalon. Hydromorphone was used for breakthrough analgesia. The patient passed away comfortably in the palliative care unit 5 days after stopping the antibiotics.\nThis case report complies with the current policies of Gold Coast Hospital and Health Service, Gold Coast, Queensland, Australia (GCHHS) for a deidentified patient who is deceased. Patient consent for publication was obtained and recorded in the electronic medical records. For the purpose of publication the HREC reference number is: HREC/15/QGC/190.",
"gender": "Female"
}
] |
PMC5922340
|
[
{
"age": 70,
"case_id": "PMC8589514_01",
"case_text": "A 70-year old man with previous history of three vessel coronary artery bypass graft surgery (left anterior descending to left internal mammary artery (LIMA to LAD), SVG to posterior descending artery (PDA), and SVG to obtuse marginal (OM)) was admitted to the Cardiology Department of Nicosia General Hospital with unstable angina. The patient complained of tight precordial pain (lasting for 15-20 minutes), radiating to the left arm, and accompanied by sweating. Other medical problems include type 2 diabetes, dyslipidaemia, and hypertension.\nOn physical examination, the blood pressure was 115/78 mmHg, the heart rate 87 beats per minute, and the respiratory rate 16 breaths per minute.\nHis auscultation revealed normal first and second heart sounds with no murmurs. No third or fourth heart sounds were heard.\nElectrocardiogram on admission showed normal sinus rhythm with T-wave inversions in leads II, III, aVF.\nChest X-ray was clear, and serial cardiac enzymes were negative.\nThe transthoracic echocardiogram revealed normal left ventricular size with mildly reduced ejection fraction (LVEF: 45%) and severe hypokinesis of the inferior wall. The aortic valve was trileaflet with mildly thickened leaflets. The mitral valve annulus was calcified with no mitral stenosis or regurgitation.\nThe patient underwent coronary angiography which demonstrated total occlusion of mid LAD after giving rise to the first diagonal branch that had a separate severe stenosis at its origin. LCx (left circumflex) was totally occluded from its proximal part after giving off the first obtuse marginal artery that was subtotally occluded at the ostium. RCA (right coronary artery) had a severe stenosis in the proximal segment and was totally occluded at the midportion. The LIMA to LAD graft was patent and flowing into distal native artery. The SVG to OM was occluded ostially, and the SVG to PDA had two consecutive critical stenoses located in the distal segment (Figure 1).\nAd hoc PCI to SVG to PDA was performed using a Judkin's right 4 (JR4) guiding catheter and a 0.014\" balanced middleweight (BMW) guide wire. An everolimus eluting-stent (Xience Pro 4.0 x 33 mm) was directly deployed at the lesion site in the distal segment of the SVG (Figure 2(a)). Subsequent contrast injection revealed a focal aneurysm formation at the site of the stent implantation (Figure 2(b)). The patient maintained a stable hemodynamic condition with a BP = 132/72 and HR = 92. Considering the potential risk of rupture, we decided to seal the aneurysm with a PTFE-covered stent. A Graft Master 4.0 x 26 mm covered stent was deployed within the aneurysmal segment of the stented SVG at an inflation pressure of 10 atmospheres (Figure 3(a)). Postcovered stent angiogram showed total exclusion of the aneurysmal sac with good distal flow (Figure 3(b)). After the procedure, the patient remained hemodynamically stable and a control echocardiogram excluded pericardial effusion. The postoperative period was uneventful, and the patient was discharged after 2 days on 75 mg of aspirin and 75 mg of clopidogrel for at least one year. The patient was planned to have a control coronary angiogram at 6 months.",
"gender": "Male"
}
] |
PMC8589514
|
[
{
"age": 53,
"case_id": "PMC7288206_01",
"case_text": "A 53-year-old male with history of alcohol abuse presented with new-onset seizure/syncope, six painless maroon stools, and coffee-ground emesis. The patient admitted to frequent diclofenac use and ketorolac injections. He did not have a history of varices. Vital signs demonstrated tachycardia (heart rate 111 beats/min) and hypotension (79/59 mmHg). Physical exam revealed pale conjunctiva, dry mucous membranes, and maroon colored stool. He was found to be anemic with a hemoglobin of 7.9 G/dL and had an elevated INR of 1.2. He was transfused two units of packed red blood cells and was started on a pantoprazole drip.\nOnce stabilized, initial EGD revealed an island of tissue growth in the mid-esophagus and a bleeding duodenal ulcer that was injected with epinephrine, cauterized with gold probe and clipped. Biopsy of the esophageal lesion was deferred to outpatient follow-up given the severity of the patient's presenting condition. He had no further signs of gastrointestinal bleeding. Two weeks later, a repeat EGD was performed. Biopsies were taken of the stomach mucosa and mid-esophageal mass (see Figure 1). Gastric biopsy demonstrated mild chronic gastritis without dysplastic changes or Helicobacter pylori. Esophageal biopsy demonstrated findings consistent with squamous papilloma (see Figures 2 and 3).",
"gender": "Male"
},
{
"age": 61,
"case_id": "PMC7288206_02",
"case_text": "A 61-year-old female with history of uncontrolled diabetes mellitus type 2 complicated by gastroparesis, prior esophageal dilation, and ileostomy was being evaluated with endoscopy as outpatient for worsening dysphagia. EGD was significant for a small nodule in the proximal esophagus (see Figure 4), normal GEJ (gastroesophageal junction), mild gastritis, and normal duodenum. Gastric biopsy demonstrated mild chronic gastritis without dysplastic changes or Helicobacter pylori. Esophageal biopsy demonstrated findings consistent with squamous papilloma.",
"gender": "Female"
},
{
"age": 54,
"case_id": "PMC7288206_03",
"case_text": "A 54-year-old female with history of fibromyalgia, chronic opioid dependency, cyanocobalamin deficiency, vitamin D deficiency, and GERD with previously noted Los Angeles class C esophagitis was being evaluated with endoscopy as outpatient for dysphagia and abdominal pain. EGD was significant for an exophytic wart-like growth in the distal esophagus, minimally irregular Z-line noted at GEJ, mild gastritis without ulcers, and normal duodenum. GEJ biopsy demonstrated focal intestinal metaplasia suggestive of Barrett's esophagus without dysplastic changes. Esophageal biopsy demonstrated findings consistent with squamous papilloma (see Figures 5 and 6).",
"gender": "Female"
}
] |
PMC7288206
|
[
{
"age": 72,
"case_id": "PMC7374222_01",
"case_text": "A 72-year-old man presented with a two-month history of weight loss, worsening abdominal discomfort, fatigue, and acute onset of oliguria.\nThe patient has had a history of psoriasis for forty years treated with topical steroids and tacrolimus. Eight years prior to this event, he was diagnosed with psoriatic arthritis with peripheral involvement. He was first treated with naproxen followed by the addition of methotrexate during the next 8 months. Because of liver toxicity, methotrexate was discontinued. Etanercept 50 mg weekly was given for the next 7 years, and his disease was well controlled.\nHe was also treated with allopurinol and probenecid for gout and with losartan for hypertension. On examination, he had bilateral flank tenderness, and the rest of the examination was unremarkable. His lab investigations showed Hg 11.5 gm/dl, WBC 8.29 per microliter, platelets 312 per microliter, urea 76 mg/dl, and creatinine 12.4 mg/dl. Urine examination was unremarkable and negative for Bence Jones protein. The C-reactive protein (CRP) was 100 mg/l. A computed tomography (CT) scan revealed diffuse hyperattenuation throughout the retroperitoneum and mesentery and bilateral mild hydronephrosis, with dilated ureters proximally thought to be due to retroperitoneal fibrosis (Figure 1). Bilateral ureteric stenting was performed resulting in good urine output, the kidney function improved, and repeat kidney parameters were normal. A laparoscopic biopsy was performed, which showed nonspecific inflammatory changes without granuloma or neoplastic cells (Figure 2). Immunoglobulin class 4 in the serum was normal. Etanercept was stopped, and a systemic steroid, prednisone 1 mg/kg, was recommended. The patient refused treatment with prednisone due to concern for side effects. Despite this, one year later, his CT scan showed marked improvement in the retroperitoneal mass (Figure 1). The patient denied arthralgias, and his inflammatory markers were normal as was his serum creatinine.",
"gender": "Male"
}
] |
PMC7374222
|
[
{
"age": 70,
"case_id": "PMC7376414_01",
"case_text": "A 70-year-old male with a past medical history of low testosterone, hypertension, benign prostatic hyperplasia, and no known travel history presented with confusion and headache in South Carolina. The patient had been recently treated for community-acquired pneumonia and completed a 5-day course of amoxicillin/clavulanic acid as an outpatient. He presented 5 days later after developing a frontal headache and short-term memory deficits. Vital signs were significant for a fever of 100.4. Physical exam revealed lethargy without any focal neurological deficits. A CT scan of the head was normal. Lumbar puncture showed a cerebrospinal fluid (CSF) WBC of 103 K/mm3 with a differential of 55% lymphocytes, 7% neutrophils, 8% monocytes, glucose 56 mg/dL, and protein 180 mg/dL. Opening pressure was 15 cm H2O. The patient was started on vancomycin, ceftriaxone, ampicillin, and acyclovir for empiric treatment of meningitis and encephalitis. CSF studies were negative for cryptococcal antigen, Lyme IgM antibody, Toxoplasmosis IgG antibody, varicella, VDRL, and CMV. Viral HSV PCR was pending and bacterial gram stain, culture, and fungal culture revealed no growth on day 3 of hospitalization. The patient rapidly improved and was discharged with suspected viral meningitis on acyclovir.\nThe patient returned to the hospital one day after discharge with new onset right-sided weakness and dysarthria. MRI of the brain revealed T2/flair signal abnormalities in the left frontal lobe with associated parenchymal enhancement (refer to Figure 1). Repeat LP was performed and CSF showed a WBC of 621 mg/dL with a differential of 85% lymphocyte, 29% PMNs, 16% monocytes, CSF glucose 21 mg/dL, and CSF protein 127 mg/dL. Opening pressure was 19 cm H2O. CSF fungal cultures from the previous admission grew Cryptococcus gattii after 5 days. HIV and hepatitis B and C were negative; serum IgA, IgM, and IgG levels and ANA were normal. Repeat CSF antigen was obtained but not resulted, and gram stain and bacterial cultures showed no growth. Fungal cultures grew C. gattii in 3 days. The patient was started on induction therapy of IV liposomal Amphotericin and Fluconazole for four weeks. A third LP was performed after two weeks of induction therapy with LFA-confirmed positive cryptococcal antigen and a titer of 1 : 2560 on LA. There was no growth on fungal culture. Repeat weekly LPs showed decreasing CSF antigen to 1 : 80 titers and continued sterile fungal cultures. The patient was transitioned and discharged on oral Fluconazole for maintenance therapy. Ten days later, the patient returned to the hospital after suffering a large brainstem lacunar stroke (refer to Figure 2). He was transitioned to inpatient hospice and later expired.",
"gender": "Male"
}
] |
PMC7376414
|
[
{
"age": 7,
"case_id": "PMC5774598_01",
"case_text": "A 7-year-old girl was presented to the pediatric emergency department with a sudden onset of progressive abdominal pain lasting for 12 hours prior to presentation. No fever, nausea or vomiting was present, and normal bowel habits were determined. No urinary symptoms were present, and there were no recurrent abdominal pain.\nThe pain was located more to the right iliac fossa and was associated with tenderness, rebound tenderness and guarding. She was adequately growing in accordance to the 50th centile for weight and height.\nLaboratory findings included leukocytosis (white blood cell count of 15.4 x 109/L with 76.5% neutrophils) and an elevated C-reactive protein level (24 mg/L).\nConsidering the differential acute abdominal pain, an abdominal ultrasound (US) was requested and was reported as normal.\nA pediatric surgeon reviewed and observed the child; however, the clinical picture persisted despite adequate conservative management and analgesia. As a consequence, the decision was made to perform laparoscopic appendectomy surgery with the consideration of acute appendicitis being the likely cause.\nThe intraoperative findings were a normal looking appendix and infarcted omentum in the right upper quadrant adherent to the liver. This was confirmed following a histopathology report.\nThe child was discharged home after 12 hours; however, she subsequently represented with a wound infection as a postsurgical complication and was treated accordingly. She remained well after discharge.\nWritten informed consent was obtained from the father of the child for publication of this case report and accompanying images.",
"gender": "Female"
}
] |
PMC5774598
|
[
{
"age": 15,
"case_id": "PMC6491627_01",
"case_text": "The patient is a now 15-year-old Arab-Qatari male born full term with no complications, the fifth of six children of a non-consanguineous union. At 8 days of life, he developed diffuse cutaneous pustules starting in the groin and then spreading across the body. The lesions failed to improve with topical antibiotics necessitating hospitalization at age 44 days for intravenous (iv) antibiotics and incision and drainage (I&D). He was diagnosed with infantile eczema and a superimposed bacterial infection; wound cultures were positive for Staphylococcus aureus.\nAt 4 months of age, the patient was again admitted to the hospital with a recurrent abscess requiring I&D and iv antibiotics. Throughout his early childhood he continued to develop recurrent skin and soft tissue infections almost monthly and usually without fevers, including at 4 years of age when he had another I&D of a facial abscess with cultures growing methicillin resistant Staphylococcus aureus. At age 5 he was admitted to the hospital with pneumonia complicated by a parapneumonic effusion and multiple cavitary lung lesions (Figure 1). He was treated with drainage of the lung nodules and prolonged iv antibiotics.\nGiven his recurrent infections at an early age of onset requiring repeated hospitalizations and iv treatments, the immunology service was consulted. The patient had several immune evaluations at age 2 and 4 that were normal and included immunoglobulin levels with undetectable IgE and normal lymphocyte subsets, CD11 and CD18 expression, nitroblue tetrazolium testing and myeloperoxidase staining.\nAt 7 years of age, the patient was admitted to the hospital with superinfection of his eczema lesions and his IgE was then found to be elevated at 4,409 kU/L (normal 0-63 kU/L). Given his history of recurrent staphylococcal infections and elevated IgE, AD-HIES was suspected. A de novo, heterozygous missense mutation in STAT3 (c.1934T>A, p.L645Q) was detected (Figure 2A). This novel mutation is located in the SH2 domain, adjacent to amino acids previously reported to contain STAT3 mutations associated with AD-HIES. It is not reported in publically available databases.\nThis mutation changes a polar glutamine for a non-polar leucine. Reduction of transcriptional activity of STAT3 p.L645Q to 85% of wild-type was confirmed using a luciferase assay (Figure 2B). The patient also had decreased CD3+CD4+ T cells expressing IL-17 (Figure 2C). Furthermore, STAT3 phosphorylation in patient-derived cells was impaired in response to cytokine stimulation (Figure 3), which has been reported in patients with AD-HIES and STAT3 mutations in the SH2 domain.\nThe patient did not have a history of mucocutaneous candidiasis. He did have eosinophilia (10.7%, 560 cells/muL), a common finding in AD-HIES. His peak serum IgE has been 10,665 kU/L. At 14 years of age, the patient sustained a non-displaced fracture in his ankle following a ground level fall. Bone densitometry showed osteopenia. He did not manifest other non-immunologic features of AD-HIES such as coarse facies, high-arched palate, scoliosis or joint hyper-extensibility, although he was noted to have retained primary upper incisors. He did have two separate and resolving episodes of facial nerve palsy at age 5 and 15 years not clearly associated with a viral infection.\nAfter the diagnosis of AD-HIES, the patient was started on prophylactic cephalexin but continued to struggle with recurrent abscesses. After his response to pneumococcal vaccination was judged insufficient, his prophylactic antibiotic was changed to levofloxacin and he was started on immunoglobulin replacement therapy. He has subsequently experienced a significant decrease in the frequency of his infections and improved quality of life.",
"gender": "Male"
}
] |
PMC6491627
|
[
{
"age": 48,
"case_id": "PMC3583069_01",
"case_text": "Lower limb dystonia (five right, four left) was triggered by ambulation in all nine patients and was not present at rest. Six patients had distal extremity involvement, two patients demonstrated proximal involvement (i.e., hip flexion, hyperextension, and abduction), and one patient exhibited both proximal and distal extremity involvement (i.e., hip flexion with foot plantar flexion). Foot inversion was the most common pattern (4/9 patients), with two patients having concomitant plantar flexion. One patient (Patient 9) had involvement of the toes along with foot inversion. Walking backward or simply imagining walking backward while walking forward often improved symptoms. One patient (Patient 7) had coincident R wrist 'yips' or golfer's cramp. Treatment with L-dopa (0/5 patients) was ineffective, but one of two patients treated with botulinum toxin injections improved.\nAdding our cases to those published previously yielded a total of 48 patients (37 female, 11 male) diagnosed with idiopathic FTSD of the LE. Comparative analysis of these patients (Table 2) revealed that 36 had distal extremity involvement (75%), 5 demonstrated proximal (10%), and 7 both proximal and distal (15%). The average age of symptom onset was 48 years old, and family history of dystonia was rare. Among 33 patients in whom the side of the dystonia was known, 20 were affected on the left (61%). Routine ambulatory tasks (e.g., standing, walking, ascending or descending stairs) were triggers of the dystonic limb posture, and only six patients (13%) had dystonia at rest. Concomitant upper extremity dystonia was observed in three patients, and one had cervical dystonia.",
"gender": "Female"
}
] |
PMC3583069
|
[
{
"age": 78,
"case_id": "PMC10387763_01",
"case_text": "A 78-year-old male patient presented to Emergency Medical Department of University of Gondar Hospital, Northwest Ethiopia, with generalized body swelling of 2 weeks duration associated with shortness of breath, orthopnea, productive cough, and palpitation. He had waxing and waning bilateral leg swelling for the last 3 years. He had recurrent episodes of respiratory tract infections in the past 6 years. He had no previous hospital admissions for similar complaints. Upon physical examination, blood pressure (BP) = 150/75, pulse rate (PR) = 50 beats/min, respiratory rate (RR) = 24 breaths/min, and temperature (T ) = 36.7 C. His arterial oxygen saturation (SaO2) was 92% while breathing ambient air. On respiratory system examination, he had grade two clubbing but no evidence of cyanosis. He had decreased air entry with relative dullness on left basal lung field. Cardiovascular examination revealed a mean heart rate of 50 bpm with irregularly irregular pulse rhythm, raised JVP, pansystolic murmur at left lower sternal border, but no summation gallop. On abdominal examination, he had ascites and tender hepatomegaly. He had bilateral pretibial and pedal pitting edema. No skeletal abnormalities were detected on locomotor system examination. Complete blood counts, liver biochemical tests, renal function tests, and serum electrolytes were within normal limits. Chest X-ray showed cardiomegaly, prominent pulmonary trunks, and left-sided pleural effusion (Figure 1). Electrocardiography revealed atrial fibrillation, bifascicular block (right bundle branch block and left anterior fascicular block) with mean heart rate of 50 beats/min (Figure 2). 2-D transthoracic echocardiography showed an absence of interatrial septum with SA diameter measuring 106 mm. No mitral valve defect or cleft was seen. The atrioventricular valve attachments to the interventricular septum were on the same anatomic plane. No interventricular communication. Left ventricular ejection fraction was 55%. There was also severe tricuspid regurgitation [tricuspid regurgitation pressure gradient (TRPG) = 68 mmHg] and dilated main pulmonary artery (Figure 3). Diagnosis of congestive heart failure secondary to congenital heart disease (SA) with atrial fibrillation and bifascicular block was made. The patient was treated with furosemide (40 mg po twice daily), spironolactone (25 mg po daily), and anticoagulated with warfarin (5 mg po daily). His cardiac symptoms improved and edema subsided, and INR value was within the therapeutic range. He was referred to a cardiac center in Addis Ababa, capital of Ethiopia, for surgical evaluation. Patient's follow-up after referral to cardiac center was not available.",
"gender": "Male"
}
] |
PMC10387763
|
[
{
"age": 52,
"case_id": "PMC5841115_01",
"case_text": "A 52-year-old healthy Hispanic male presented to an outpatient urology clinic with an elevated prostate-specific antigen (PSA) of 4.1 along with mild obstructive lower urinary tract symptoms. There was no family history of prostate cancer. The physical examination including the digital rectal examination was unremarkable. The patient was seen again 3 months later with a PSA of 4.3 and after discussion with the patient he elected to undergo a 12-core TRUS PNBx. The following month when the biopsy was performed, the PSA had slightly decreased to 3.4. The prostate was visualized in the sagittal and transverse planes via ultrasound probe and was unremarkable. Volume was measured to be 33 cm3 (PSA density of 0.10 ng/mL/g). Final pathology demonstrated blue nevus in one out of six cores on the right and two out of six cores on the left. On microscopic analysis with hematoxylin-eosin stain, individual heavily pigmented spindle cells distributed in between prostatic stroma and glands were noted (Figures 1 and 2). The remaining specimen consisted of benign prostatic tissue with postatrophic hyperplasia and chronic inflammation. The patient's voiding symptoms improved with terazosin and no further workup was undertaken. The patient is now being followed up for routine prostate cancer surveillance as per the American Urological Association (AUA) guidelines.",
"gender": "Male"
}
] |
PMC5841115
|
[
{
"age": 72,
"case_id": "PMC6475553_01",
"case_text": "A 72-year-old woman presented with a two-year history of a light brown pigmented lesion located on the lateral segment of her right inferior eyelid. She had no history of nevi, rashes, or scaling of the area. The patient had a past medical history significant for a basal cell carcinoma, melasma, and numerous solar lentigines of the face and neck. She admitted to significant sun exposure and tanning in the past but denied any family history of skin cancer. Three months earlier, she had received laser therapy to the face and neck for skin rejuvenation, using the fractional resurfacing laser at a wavelength of 1,550 nm. Her only reaction to laser therapy was slight erythema and mild swelling. Otherwise, she healed well.\nOn examination, the lesion was a flat, well-circumscribed macule, measuring 3 mm x 2 mm, colored tan to dark brown involving the lateral segment of the right inferior eyelid (Figure 1). It appeared similar to many other lentigines on the patient's sun-exposed areas and was clinically correlated to be a solar lentigo. Due to the low clinical suspicion for malignant lesions and sensitive area, biopsy was not obtained. The patient sought cosmetic treatment of the right inferior eyelid lesion and the 1,064 nm QS Nd:YAG laser was used, pulse durations were not recorded.\nThree months after targeted laser treatment of the right inferior eyelid patch, the patient returned complaining of recurrence of the lesion, which appeared to have grown to be a 4 mm x 2 mm asymmetric macule colored tan to dark brown to black (Figure 2). A shave biopsy was taken and returned positive for atypical lentiginous and nested melanocytic proliferation with severe atypia, extending to the lateral margin. The lesion was subsequently excised and final pathology was reported as a desmoplastic melanoma, Clark's level IV, Breslow's thickness 2.5 mm with negative margins. Subsequent follow-up appointments at 2 months, 3 months, 6 months, and 8 months were all negative for clinical recurrence.",
"gender": "Female"
}
] |
PMC6475553
|
[
{
"age": 62,
"case_id": "PMC6925741_01",
"case_text": "A 62 year-old-woman, complaining from micturition lipothymia for six months, was admitted in our hospital. She had no significant past medical history, and there was no history of headaches, palpitations, profuse sweating, hypertension or gross hematuria. Her family history was unremarkable.\nPhysical examination was normal, and blood pressure was within normal range at 120/80 mmHg. Cytobacteriological examination of the urine was negative. The patient was not anemic and the white cell count was within normal range. There was no renal failure.\nAn abdominal ultrasonographic examination was performed initially, which depicted an approximately 40 mm heterogeneous mass along the anterior wall of the bladder with abundant internal flow at Doppler interrogation (Figure 1).\nAn abdominal computed tomography (CT) scan, with intravenous administration of contrast medium, revealed a 32 mm heterogenous lobulated anterior bladder wall mass. The mass showed intense uniform enhancement with contrast study. There was no sign of any lymphadenopathy or metastatic invasion (Figure 2).\nFurther imaging with Iodine-123-meta-iodobenzylguanidine (I-123 MIBG) scintiscan confirmed the presence of bladder pheochromocytoma without metastatic disease (Figure 3).\nThe 24-hour urine metanephrine and normetanephrine measurement was within normal levels.\nThe patient underwent a complete and deep transurethral resection of the bladder tumor. A solid submucosal mass was seen on the left lateral wall near the neck of the urinary bladder, with normal mucosal covering. The resection was complete and tissue was submitted to histopathological examination. During the procedure, the patient became severely hypertensive. Her blood pressure raised up to 236/118 mmHg and pulse rate dropped to 46/min. This episode was controlled with intraoperative intravenous antihypertensive and atropine. Postoperative recovery was uneventful.\nThe histological examination of the tumor confirmed the diagnosis of vesical paraganglioma showing tumorous small cells with a positive immunostaining for synaptophysin and anti-CD 56 (Figure 4).\nThe patient underwent partial cystectomy (Figure 5). The surgical margin of the removed specimen was negative. Postoperative recovery was uneventful.\nOn a recent follow-up at 12 months, her cystoscopy examination did not reveal any evidence of recurrence. Her radiological assessment (thoracic-abdomino-pelvic CT) was negative for metastatic disease.",
"gender": "Female"
}
] |
PMC6925741
|
[
{
"age": 5,
"case_id": "PMC5480228_01",
"case_text": "A 5-year-old girl was admitted to our hospital for assessment of abdominal pain and fever up to 39.2 C. She had a cough from 3 days before admission, but no rhinorrhea, vomiting, diarrhea, or rash.",
"gender": "Female"
},
{
"age": 36,
"case_id": "PMC5480228_02",
"case_text": "She was born to a 36-year-old mother by normal spontaneous vaginal delivery after a full-term, uncomplicated pregnancy. However, placental abruption resulted in neonatal asphyxia; Apgar scores were 1 and 1 at 1 and 5 min, respectively. Hypoxic-ischemic encephalopathy and ischemic nephropathy were diagnosed, and automated PD (APD) was started at age 11 days. H. influenzae type b (Hib) vaccination was administered in a three-dose primary series with one booster dose by age 2 years.\nOn physical examination, her abdomen was tense and tender with signs of peritoneal inflammation. The site of peritoneal catheter insertion was slightly reddish, exudate was present. Peritoneal fluid from the catheter was cloudy and had a white blood cell count of 18,710/muL. Blood creatinine level was 3.62 mg/dL, BUN was 55 mg/dL, and C-reactive protein was 11.98 mg/dL. White blood cell count was 11,510/muL, with 83% neutrophils. IgG was 548 mg/dL (23% subclass 2).\nH. influenzae was isolated from peritoneal fluid culture and was found to be highly susceptible to all tested antibacterials, including ampicillin and cefepime. A slide agglutination kit (Denka Seiken, Tokyo, Japan) classified the isolates as non-typeable H. influenzae (NTHi). The isolate was identified as sequence type (ST) 3 (allele adk-atpG-frdB-fucK-mdh-pgi-recA: 1-1-1-1-1-1-5) by multilocus sequence typing (MLST) (PubMLST, https://pubmlst.org/hinfluenzae/). The gene sequence IS1016, which may be associated with severe infection, was not detected by PCR. The isolate had hia:a homologue of the hsf gene, which is ubiquitous among Hib strains:and hmw1 and 2, adhesin genes that are common in NTHi but absent in encapsulated H. influenzae .\nBlood cultures obtained on the day of admission and a nasal swab sample obtained on day 3 of illness showed no growth. H. influenzae was previously isolated from the patient's nasal cavity upon routine screening 6 months before onset; however antimicrobial resistance patterns differed from those identified in peritoneal isolate.\nThe patient was empirically treated with intraperitoneal cefepime, in accordance with the International Society for Peritoneal Dialysis guidelines/recommendations. The APD catheter was not removed. Her antimicrobial was changed to intraperitoneal cefazolin after H. influenzae was identified.\nWritten informed consent for publication of this case report was obtained from her legal guardian.",
"gender": "Female"
}
] |
PMC5480228
|
[
{
"age": 65,
"case_id": "PMC8107669_01",
"case_text": "Patient 1 is a 65-year-old man who received a right hemicolectomy in October 2019. Histologic and genetic examination revealed a pT4apN1b RAS and BRAF wild-type, MSS (microsatellite stable) adenocarcinoma and he presented with liver metastases. Disease stabilization (with no change in tumor size) was obtained after 7 months of first-line chemotherapy FOLFOX/BEVA [oxaliplatin on day 1 at the dose of 85 mg/m2 as a 2 h infusion, concurrently with leucovorin 400 mg/m2, followed by a bolus of 5-fluorouracil 400 mg/m2 (FU), and a 48 h infusion of 5-fluorouracil 2400 mg/m2 (FA) and bevacizumab 5 mg/kg (BEVA) on day 1, every 2 weeks] as documented by CT (computed tomography) in August 2020. Following therapy was FU/FA/BEVA every 2 weeks as maintenance/depotentiated treatment, with the last cycle performed on 2 October 2020, for a total of three cycles. Thereafter, he developed severe COVID-19, from which he recovered in November 2020 when the CT scan showed complete response with regression of hepatic lesions (Figure 1). The immunoglobulin G (IgG) anti-SARS-CoV-2 titer was 1455 U/ml.",
"gender": "Male"
},
{
"age": 58,
"case_id": "PMC8107669_02",
"case_text": "Patient 2 is a 58-year-old man who underwent a left hemicolectomy in February 2019. The histologic and genetic assessment showed a pT3pN0 RAS mutated, BRAF wild-type, MSS adenocarcinoma. At diagnosis, he presented with three unresectable liver metastatic lesions treated with pre-operative FOLFOX/BEVA (6 months) followed by multiple metastasectomies in November 2019. Thereafter, the patient refused post-operative chemotherapy. In August 2020, he progressed at liver segments VI and VII as documented with CT scan; concomitantly, he developed mild symptomatic COVID-19. CT scan in December 2020 reported reduction of the liver metastatic lesion at segment VII (15.3 x 14.0 mm versus 10.9 x 10.5 mm) and disappearance of the lesion at segment VI (Figure 1). The IgG anti-SARS-CoV-2 titer was 188.40 U/ml.",
"gender": "Male"
},
{
"age": 60,
"case_id": "PMC8107669_03",
"case_text": "Patient 3 is a 60-year-old woman who received a left hemicolectomy in March 2019 for a pT3pN2a RAS and BRAF wild-type, MSS adenocarcinoma followed by 6 months adjuvant FOLFOX therapy (oxaliplatin on day 1 at the dose of 85 mg/m2 as a 2 h infusion, concurrently with leucovorin 400 mg/m2, followed by a bolus of FU and a 48 h infusion of FA). In June 2020, the disease progressed on positron emission tomography and CT total-body scan, with multiple measurable nodules on the peritoneum surface (standard uptake value >3) and a small nodule in the right lung. The patient started first-line chemotherapy with FOLFIRI/PANI (irinotecan 180 mg/m2 on day 1 plus leucovorin 400 mg/m2, followed by an FA bolus and an FU infusion, and panitumumab 6 mg/kg on day 1, every 2 weeks). After six cycles, CT scan in September 2020 displayed disease stabilization (with no change in tumor size) and, concomitantly mild COVID-19. She recovered from COVID-19 at the end of October. Unexpected reduction of peritoneal and lung disease was reported at the CT scan following COVID-19 (Figure 1). IgG anti-SARS-CoV-2 titer by Electro-Chemi-Luminescence Immuno Assay (ECLIA) was 1216 U/ml.",
"gender": "Female"
}
] |
PMC8107669
|
[
{
"age": 68,
"case_id": "PMC3862226_01",
"case_text": "A 68-year-old Japanese woman, gravida 2 para 2 (G2P2), was referred to our institution with a complaint of irregular genital bleeding. Her medical and family history was unremarkable. The last gynecologic examination and cervical smear had been performed 3 years previously, and the findings were normal.\nOn physical examination, we observed a palpable goose-egg sized tumor in the lower abdomen. Magnetic resonance imaging revealed a hard, abnormal cystic tumor mass in the pelvis, 100 x 103 mm in size, suggesting a malignant ovarian tumor. Computed tomography (CT) of the lower abdomen revealed bulging lymph node swellings, each 10 mm in size, along the bilateral common iliac arteries with lesions to both the external and internal arteries. The CT scan also revealed a > 10-mm lymph node swelling in the dorsal pancreas (Fig. 1a) and multiple low-density areas in the spleen (Fig. 1b). These findings suggested metastasis from a primary ovarian cancer. Following whole body 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), elevated FDG uptake was reported in the left adnexa, in the lymph nodes along the iliac arteries, in the dorsal pancreas and spleen (Fig. 2a,b).\nWith evidence of malignancy originating from the left ovary and subsequent multiple lymph node metastases and metastasis to the spleen, we performed abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic para-aortic lymphadenectomy, and splenectomy. During surgery, no remarkable dissemination was detected in the abdominal cavity. As observed on CT and FDG-PET, enlarged lymph nodes were visible around both bilateral common iliac and external/internal iliac lesions as well as around the pancreatic lesion, and these were all resected.\nHistopathological findings showed the growth of tumor cells in papillary, tubulocystic, and focally solid pattern composed of cells with clear cytoplasm, hyperchromatic nuclei and mitotic features. Specifically, a distinct hobnail pattern was observed (Fig. 3a). No tumor cells were recorded on the right side of the ovary. Histopathological examination of the resected lymph nodes and spleen revealed a non-caseating epithelioid cell granuloma (Fig. 3b), wherein no tumor cells were identified. On the basis of these findings, we concluded that this was a case of clear cell adenocarcinoma of the left ovary, p-T1aN0M0. The patient received adjuvant chemotherapy with paclitaxel [180 mg/m2] and carboplatin [AUC 5], q3 weeks x 6 courses. After 2 years of follow-up, no recurrence of disease was noted.",
"gender": "Female"
}
] |
PMC3862226
|
[
{
"age": 52,
"case_id": "PMC7737542_01",
"case_text": "A 52-year-old woman presented at a local hospital's emergency department after being discovered by her family with sudden-onset vomiting and loss of consciousness. Head CT showed bilateral basal ganglia hemorrhages (data not obtained). The patient was immediately transferred to our hospital. Vital signs on arrival were unremarkable except for markedly elevated blood pressure (180/100 mm Hg). The patient had a 2-year history of hypertension without any history of diabetes, trauma, surgery, or taking oral anticoagulant drugs. Her Glasgow Coma Scale (GCS) score was 6 (E1V1M4). Neurologic examinations revealed coma, quadriplegia, and bilateral positive Babinski sign. Bilateral pupils were 3 mm but sluggish to light. Head CT showed bilateral basal ganglia hemorrhages of about 18 mL on the right and 27 mL on the left side (Figure 1A). Hematoma volume was calculated using the ABC/2 method. Chest CT showed bilateral mild pleural effusion and infection in bilateral lungs. Laboratory tests were within normal ranges including complete blood cell counts, bleeding time, activated partial thromboplastin time, prothrombin time, liver and renal function, and blood glucose level. We decided to remove the hematomas by aspiration to reduce intracranial pressure (ICP). We pasted CT markers on the frontal and temporal areas of the patient's head for head CT to indicate the puncture points for aspiration (Figure 1B). The patient later underwent MIS for ICH under general anesthesia. The neurosurgeon performed hematoma catheter injections using a standard sterile technique. The catheter diameter was 4.8 mm. Frontal and temporal catheters were placed, and 10 and 5 mL of blood clots were aspirated from the left and right sides, respectively. Immediate postoperative head CT confirmed the catheter track and residual hematomas (Figure 1C and D). The patient was sedated and transferred with an endotracheal tube and mechanical ventilation to the Neurosurgical Intensive Care Unit.\nUrokinase injection and clot aspiration were performed for the residual hematomas. On postoperative day 1, the 2 catheters were clamped after infusion of urokinase (20,000 U dissolved in 3 mL normal saline) for 2 h. However, at 1.5 h, the patient exhibited the Cushing reflex and bilateral pupils were 5 mm and unresponsive to light. We opened the catheter valve, which alleviated the patient's signs and symptoms. GCS score improved, and the patient started responding to commands starting from postoperative day 2. We infused urokinase every 12 h up to 4 doses instead of performing a single injection, and the patient was stable during the process. On postoperative day 3, head CT showed a residual clot (10 mL on the right and 2 mL on the left side) and the patient was extubated (Figure 1E and F). Human albumin and furosemide were administered to control ICP and cerebral edema. The patient's pneumonia continued to worsen after the operation, requiring assisted ventilation. She underwent tracheotomy by general anesthesia on postoperative day 10. On postoperative day 19, the ventilator was removed and head CT revealed absorption of the intracranial hematoma (Figure 1G and H). Over the 2 years of follow-up, there was no recurrence of ICH. The non-fluent aphasia improved but speech did not return to normal. The patient suffered mild disorder of the left and right limb muscles, but she was able to walk unassisted. The patient's modified Rankin Scale score was 3 on postoperative day 90 and 2 at the 2-year follow-up. This case was approved by the medical ethics committee of the First Affiliated Hospital of China Medical University to publish the case details. Written, informed consent was obtained from the patient for publication of case details and accompanying images.",
"gender": "Female"
}
] |
PMC7737542
|
[
{
"age": 0,
"case_id": "PMC6585220_01",
"case_text": "A 3-month-old female child presented with a progressively expanding mass in the upper jaw for 1 month of age. There were apparently no associated feeding or breathing difficulties. The full-term, transvaginally delivered baby had no relevant medical, social, or family history attributable to the current affliction. On examination, a single, spherical bluish mass in the anterior maxillary vestibule was seen extending on to the upper lip. There was considerable elevation of the alar base and obliteration of the right nasal cavity [Figure 1]. This sessile mass measuring about 2 cm x 2 cm was soft in consistency and was neither expansile nor pulsatile. Aspiration was inconclusive. A wide bore 48 channel 1.5 T-high-field magnetic resonance imaging (MRI) revealed a soft-tissue mass in the central aspect of the right maxilla extending into nasal cavity with cranial displacement of the deciduous central incisor [Figure 2a]. The child was subsequently taken up for excision of the nasomaxillary mass under general anesthesia [Figure 2b and c]. Histopathological analysis reported IFS (Grade 1) and that the margins were free of tumor. Microscopy revealed densely packed spindle cells arranged in fascicles and demonstrating herringbone pattern [Figure 3]. Immunohistochemical staining reported positivity for vimentin [Figure 4], smooth muscle actin, and CD 34 while being negative for S100, CD99, BCL-2 myogenin, and desmine. Postoperatively, the child was referred to medical oncologist who deferred chemotherapy considering low-grade and tumor-free margins. The patient was hence planned for close observation and follow-up. The patient is being followed up for the last 2 years and has remained disease free so far [Figure 5].",
"gender": "Female"
}
] |
PMC6585220
|
[
{
"age": 69,
"case_id": "PMC10166216_01",
"case_text": "This is a 69-year-old gentleman with a past medical history of coronary artery disease status post two stents placement, the first one in 2012 and the second one in 2016, who presented to the Emergency Room on 01/06/2022, complaining of chest pain for three days before admission. The patient complained of pressure-like, intermittent chest pain, 8-10 in intensity, located on the left-sided chest and radiated to the left arm and shoulder. Each episode had a duration of 30 min with 5 min between each episode. Initially, the pain was exacerbated upon physical activity and alleviated with rest, however, a few hours before presentation to the Emergency Room, the patient also experienced pain at rest.\nHe had not been compliant with his medication regimen for the last two years before the presentation and he chose to treat his medical conditions exclusively with ginger.\nPertinent negatives included diaphoresis, orthopnea, paroxysmal nocturnal dyspnea, lower extremity edema, dizziness, and syncopal episodes. His family history was remarkable for his father with cardiac disease status post stents placement.\nIn the Emergency Room, the patient was found to be hypertensive with a blood pressure of 154/83 mmHg, non-tachycardic or tachypneic, and saturating 97% on room air. The initial troponin I level was 0.12 [<0.5 ng/ml], but the follow-up troponin I was 0.51 [<0.5 ng/ml]. Initial ECG showed sinus rhythm, first-degree AV block, incomplete right bundle branch block, biphasic T-wave inversion in V2 and V3, and T-wave inversion in anterolateral leads.\nIn the setting of the patient's clinical presentation associated with troponin leakage and ECG changes concerning for ischemia, he was started on full acute coronary syndrome (ACS) protocol including loading dose of aspirin, and clopidogrel, therapeutic anticoagulation, and statin therapy along with monitoring ECG changes and troponin I levels.\nThe following day, the patient remained hemodynamically stable, and the chest pain was resolved. However, the repeat troponin I level was 0.80 [<0.5 ng/ml], and follow-up ECG showed sinus bradycardia with a heart rate of 55 beats per min with first-degree A-V block, incomplete right bundle branch block, and biphasic T waves in V2 and V3 which in that clinical setting was consistent with Type-A T waves seen in Wellens syndrome (Fig. 1). An echocardiogram was also performed, and it revealed a left ventricular ejection fraction of 50-55% and mildly hypokinetic changes on the apical septal and apical anterior segments.\nThe patient was taken to the catheterization laboratory for left heart catheterization, coronary angiography, and left ventriculography. During the intervention, it was found that the LAD had a proximal to mid stent and a distal stent in place. There was proximal 90% in-stent restenosis at the proximal edge of the first stent. There was also a 90% in-stent restenosis at the proximal edge of the second stent into the mid-segment, which was a tubular lesion. Also, there was a distal 70% discrete stenosis in the distal LAD.\nBecause of the above findings, a total of three stents were placed. The first stent was placed in the mid to distal LAD to cover the second 90% lesion. The second stent was placed to cover the proximal lesion and was placed at the proximal edge of the previous stent. A third stent was placed in the distal LAD at the level of the distal 70% discrete stenosis. The repeat angiographic shots showed excellent results with no residual angiographic stenosis and no dissection, perforation, or complications.\nFurther recommendations included aggressive guideline-directed medical therapy for coronary artery disease, including dual-antiplatelet therapy with aspirin and clopidogrel for minimally one year, a beta-blocker, and a statin. Furthermore, the patient was counseled extensively on medication compliance after stent placement.",
"gender": "Male"
}
] |
PMC10166216
|
[
{
"age": 0,
"case_id": "PMC7680930_01",
"case_text": "In our routine screening of 340 children, aged 6-35 months old and enrolled in an iron supplementation trial (namely IHAT-GUT, ClinicalTrials.gov identifier: NCT02941081), we found the case of a 29-month-old child with moderate infection of Hymenolepis nana. As part of the trial protocol, we examined 521 stool samples from study participants for intestinal parasites, using the Kato-Katz method based on duplicate slides as per current WHO recommendation. The child with the stool sample harbouring H. nana eggs (Figure 1) was unique amongst the 72 children out of 340 (21%) in whom intestinal parasites were present. The child presented with an infection intensity of 144 eggs/gram of stool and was mildly anaemic, with an Hb value of 10.8 g/dl, and iron deficient, with ferritin of 12.9 microg/l. The child also had a high white blood cell count and high granulocyte count, indicative of infection (Table 1). Otherwise, the child was growing normally (Table 1) and, upon examination by the study nurses, was considered as an asymptomatic carrier of hymenolepiasis.\nTo prevent the spread of the infection, and irrespective of the asymptomatic status, the infected child was treated with praziquantel 20 mg/kg in a single oral dose following WHO guidelines, and was re-assessed 2 weeks later and considered free of the cestode.",
"gender": "Unknown"
}
] |
PMC7680930
|
[
{
"age": 61,
"case_id": "PMC5066193_01",
"case_text": "A 61 year old African American male currently receiving chemotherapy for multiple myeloma presented with a 3 month history of a non-healing wound on the finger that occurred after a puncture wound from a rose thorn while gardening. He reported some pain and tenderness, and denied any fever or malaise. He applied triple antibiotic ointment with no relief.\nOn his left 4th digit, just proximal to the nail fold, was a tender 1.4 x 1.2 cm hyperpigmented, hyperkeratotic plaque with an area of shallow erosion. There was no deformity or hyperpigmentation of his nail. A saucerization biopsy of the lesion was performed for histology and tissue cultures. The patient was treated with itraconazole 200 mg PO daily for presumed sporotrichosis infection. Tissue cultures for bacteria and fungi grew only Candida parapsilosis. Histology revealed full thickness epidermal keratinocyte atypia consistent with squamous cell carcinoma in-situ (SCCis) and it resolved with excision (Fig. 1, Fig. 2).",
"gender": "Male"
}
] |
PMC5066193
|
[
{
"age": 28,
"case_id": "PMC6743686_01",
"case_text": "A 28-years-old female at the 14th week of gestation was admitted in April 2016 due to headache, vomiting, and progressive asthenia in the previous 3 weeks. A brain magnetic resonance imaging (MRI) demonstrated a large right thalamic tumor [Figure 1], and the MRI-spectroscopic study showed a high level of choline and low level of N-AcetylAspartate consistent with a high-grade glioma. She presented fully awake, with a slight left hemiparesis and headache. Later on, due to progressive neurological deterioration, she underwent in May 2 external ventricular drainage (EVD) in local anesthesia and 1 week later craniotomy and partial removing of the tumor under general anesthesia, with continuous fetal heart rate (FHR) monitoring, maintaining good fetal conditions during the operation. At the end of the month, she was discharged following the gynecological evaluation who revealed good clinical conditions of both, mother and fetus. 2 weeks later, she deteriorated neurologically presenting vomiting, stupor, and severe hemiparesis. A brain computer tomography scan showed hydrocephalus and she underwent on the left side, a ventricular-peritoneal shunt. The brain-MRI performed 2 days later showed a light improving the hydrocephalus. The abdomen ultrasonography was normal and she was discharged in good clinical conditions except a moderate left arm paresis. In July 5, a brain MRI showed a large thalamic tumor. In July 7, she had elective cesarean section and the day later, underwent a gross debulking of the tumor. Her clinical conditions improved progressively and in August she began CTX with temozolomide (TMZ) and XRT in a standard way. 12 months after surgery the patient had a moderate left arm paresis with small residual tumor showed on the brain-MRI [Figure 2]. The baby was born with a retinopathy and bronco dysplasia due to the premature birth. He was treated with retinal laser therapy bilaterally and Lucentis intravitreous on the right side successfully. He was also treated with Synagis 15 mg/kg in 1/month and is growing normally under surveillance by pediatricians. The patient died 16 months after delivery.",
"gender": "Female"
},
{
"age": 38,
"case_id": "PMC6743686_02",
"case_text": "A 38-years-old female, on the 28th week of gestation, presented in November 15, 2014, at the emergency department due to general asthenia associated with a headache, as well as left arm paresis and dysesthesia and a slight left facial deficit. A brain MRI showed a large right frontal tumor [Figure 3]. She moved to the department of obstetrics-gynecology and after team counseling (oncologist, neurosurgeon, gynecologist, and neonatologist), 2 days later, she underwent an elective cesarean section. 5 days later she underwent craniotomy and exeresis of the tumor with intraoperative neuronavigation and ultrasound. The histology revealed GBM. The patient was evaluated by the oncologists and radiotherapists and began chemotherapy (CTX) and radiotherapy (XRT) (Stupp protocol). 12 months after surgery her clinical conditions progressively deteriorate with signs of regrowth on MRI [Figure 4]. The baby was born with low birth weight and needed 2 months to stay in the neonatal intensive care unit; he was also treated with Synagis for 4 months. At the age of 4 months he was operated for hypertrophic pyloric stenosis; at present, he suffers epilepsy and sometimes tremor but has a normal psychomotor development. The patient survived 46 months after delivery.",
"gender": "Female"
}
] |
PMC6743686
|
[
{
"age": null,
"case_id": "PMC8110827_01",
"case_text": "The male patient was born to healthy consanguineous Syrian parents with a normal birth weight after an uneventful pregnancy.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8110827_02",
"case_text": "The patient has an older sister who is healthy and heterozygous carrier of the SPTBN4 mutation and a younger sister who was also diagnosed with ssIV-spectrin deficiency and described as patient II below. According to the patients' mother no other family member is known to present with a similar phenotype or symptoms.",
"gender": "Unknown"
},
{
"age": 5,
"case_id": "PMC8110827_03",
"case_text": "After birth the patient presented with general muscular hypotonia and areflexia, as well as global muscular atrophy. Twelve months later, the patient had not reached any milestone and did not show any muscular movements (Table 1).\nTo identify the cause of his severe psychomotor delay, a muscle biopsy was taken at the age of 5 month which showed unsuspicious skeletal muscle without indication of any myopathic, neurogenic or inflammatory changes. Muscular biopsy from vastus muscle at the age of 2 years showed slightly widened fiber caliber spectrum which has been classified as mild hypertrophy of the muscle fibers.\nElectron microscopic examinations of nerve biopsies at the age of 2 years showed membrane inclusions in the swan cells of myelinated axons, as well as demyelinating changes, raising the suspicion of a lysosomal storage disease (Figure 1).\nA mitochondrial association was considered owing to the symptom complex of severe psychomotor delay, cardiomyopathy and visual involvement. Biochemical examination of the muscle biopsy revealed a disturbed mitochondrial energy generating system, with reduced activities of complexes II, III, II+III and, in particular, of complex I (Table 2).\nLaboratory parameters like lactate and CK in serum were always within the normal range.\nAt the age of 16 months, electroencephalogram (EEG) recordings showed predominant delta and theta activity but no seizure activity.\nCranial magnetic resonance imaging (MRI) at the age of 18 months showed a global cerebral atrophy, while cranial MRI at the age of 10 years showed signs of progressive, focal brain atrophy and a continuing but not age-appropriate myelination. In particular, the MRI revealed an atrophy of the occipital cortex accentuated in the occipitotemporal medial gyrus, an almost entire loss of the cerebellar vermis and a significant loss of substance of the cerebellar hemispheres and a temporopolar dilation of the subarachnoid cavity and corpus callosum hypoplasia (Figure 2).\nElectroneurography (ENG) of the ulnar and the tibial posterior nerve was performed at the age of two and a half years and was difficult to evaluate. However, ulnar nerve showed a nerve conduction time of 6,08 m/s (norm: 59,8), slight muscular reaction in both muscles was observed up to 30 mA. ENG showed a deceleration of nerval conduction.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8110827_04",
"case_text": "The patient shows severe optic atrophy causing blindness.",
"gender": "Unknown"
},
{
"age": 1,
"case_id": "PMC8110827_05",
"case_text": "Additionally, the patient suffers from deafness.\nHe suffers from chronic respiratory insufficiency due to failure of the ventilatory motor function with a high production of mucus and an insufficient cough reflex. Tracheostomy and a home ventilation device were necessary already at the age of 1 year. Pulmonary parenchyma infections with fever have been occurring in regular intervals since birth.\nEchocardiography at the age of 1 year revealed a non-obstructive hypertrophic cardiomyopathy.\nDue to muscular hypotonia and a sluggish sucking reflex, he had to be fed by nasogastric tube after birth. At the age of 1 year he showed a malnutritional status caused by dysphagia, which indicated the application of a percutaneous endoscopic gastrostomy tube.",
"gender": "Male"
},
{
"age": 8,
"case_id": "PMC8110827_06",
"case_text": "In the sequel of a cardia insufficiency the patient developed a duodeno-gastro-esophageal reflux disease at the age of 8 years. Furthermore, the patient had a corpus and a fundus gastritis.\nOrchidectomy had to be performed due to haemorrhagic necrosis of his inguinal testis at the age of 12 years.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8110827_07",
"case_text": "Due to an inactivity osteoporosis and after two fractures of the femur, patient I receives a bisphosphonate therapy. He developed a thoracolumbar scoliosis, thoracic hypokyphosis and lumbar hyperlordosis (Table 1).",
"gender": "Male"
},
{
"age": 17,
"case_id": "PMC8110827_08",
"case_text": "Currently, at the age of 17, the patient shows severe psychomotor developmental arrest, myopathic facies, a long-drawn face with a high forehead and a palate column. He has a gingiva hyperplasia with a malformation of his teeth, growing out of his palate. The patient's mouth is always open and he has a macroglossia in relation to his oral cavity. Moreover, he has a vertical and horizontal gaze palsy and hypertelorism (Figure 3). Since he is unable to communicate verbal and non-verbal by eye movements or mimics, the only reactions to his environment that can be detected are the changing of his heart rate or respiratory rate. Unspecific movements, for example, of his tongue or his extremities can be observed seldom. The patient is in a wheelchair and unable to perform any basic actions.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8110827_09",
"case_text": "The younger sister of patient I was born with a birth weight of 3,920 g after 40 weeks of an uneventful pregnancy.\nShe presented as a floppy infant, with distinct muscular hypotonia and missing sucking reflex. Clinical examination showed sparse symmetrical spontaneous motoric function.\nMRI showed an external more than internal hydrocephalus leading to global cerebral atrophy, in particular of the periventricular space and the corpus callosum. The myelination was age-appropriate.\nClinically she showed microcephaly.\nLike her older brother, she was suspected to have a lysosomal storage disease.\nPatient II was diagnosed with chronic global respiratory insufficiency since she suffered from recurrent pulmonary parenchyma infections with poor mobilization of secretions.",
"gender": "Female"
},
{
"age": 14,
"case_id": "PMC8110827_10",
"case_text": "Because of her missing sucking reflex, feeding was difficult and she developed a severe malnutrition necessitating gastric tube feeding. Furthermore, the patient developed a duodeno-gastro-esophageal reflux disease (Table 1).\nPatient II died at the age of 14 months due to a bronchopulmonary infection in the course of which she developed a rapidly decreasing oxygen saturation and an increasing bradycardia.\nWhole exome sequencing of patients I and II revealed the homozygous stop mutation c.6016C>T (p.R2006*protein with 2564 aa, Mut. Ex 28 of 36) in the SPTBN4 gene in both patients. Homozygous carrier status was confirmed by Sanger sequencing in both patients.\nHeterozygous carrier status of the mother and the healthy sister was confirmed by Sanger sequencing as well.\nDNA of the father has been unavailable.",
"gender": "Female"
},
{
"age": null,
"case_id": "PMC8110827_11",
"case_text": "Other genetic variants that were found in both patients included variants in the genes BNIPL, FBLN7, GABPB2 (homozygous) and PLEC (heterozygous). After using the above mentioned analyses parameter and additional prediction programs (PROVEAN, SIFT, Polyphen2), these mutations were excluded as they were either predicted to be benign by the majority of prediction programs or due to publication data that revealed gene functions that were not indicative for the disease of patient I and II.\nBiochemical examination of muscle tissue revealed a disturbed energy generating system.\nA severely reduced substrate oxidation and ATP + CrP production rates were detected in the muscle tissue. At the enzymatic level, a clearly reduced activity of complex I was observed. Also complex II, III, and II+III showed reduced activities, although not as severe as complex I. The activities of complex IV and V were normal. Activity of the reference enzyme citrate synthase was around the lowest control value. There was not enough material left to measure PDHc.",
"gender": "Unknown"
}
] |
PMC8110827
|
[
{
"age": 54,
"case_id": "PMC7171645_01",
"case_text": "A 54-year-old male patient with severe aortic valve stenosis (strongly calcified bicuspid valve) undergoing mechanical aortic valve replacement developed injection-site erythemas after 5 days of therapeutic LMWH (enoxaparin 40 mg BID). An allergic hypersensitivity reaction to heparin was suspected, and enoxaparin was switched to another LMWH (fraxiparin) followed by intravenous unfractionated heparin since hypersensitivity reactions continued. In parallel, oral anticoagulation with a vitamin K antagonist (phenprocoumon) was started at a dose of 9 mg on 2 consecutive days. On the seventh day after surgery, all LMWH injection sites became increasingly painful and inflamed and showed necrotic central lesions and blisters, with the first site at the left thigh being the most severely affected (Figure 1). In addition, the patient described a tingling sensation in the tips of his fingers and toes.\nThere was a perioperative drop in the platelet count with recovery 4 days after surgery (398 G/l). On day 6, platelet count decreased to 160 G/l but remained within the normal range (Figure 2). However, based on the criteria of the 4 Ts score, more than 50% drop of platelet count together with the onset of the symptoms, platelet count fall between 5 and 10 days after the start of heparin, gangrenous skin lesion, and no apparent other causes for thrombocytopenia indicate a high probability for HIT (8 points).\nHeparin and phenprocoumon were immediately stopped, vitamin K was administered at an INR of 1.5, and argatroban at an initial dosage of 0.15 mug/kg/min IV was started as an alternative anticoagulant. The occurrence of HIT correlates with higher optical density in specific ELISA tests. On the seventh postoperative day, ELISA tests showed highly positive antibody levels/OD, 2.0 with lysate (HIT), and 0.8 without lysate (PIT) (optical densities from Zymutest HIA IgG enzyme-linked immunosorbent assay (ELISA) test (Hyphen Biomed)) (Figure 3). Platelet count increased steadily thereafter, and the local injection sites recovered (Figure 1). After normalization of the platelet count, phenprocoumon was restarted, and argatroban was discontinued once an INR above 2.0 was reached.",
"gender": "Male"
}
] |
PMC7171645
|
[
{
"age": 23,
"case_id": "PMC6446130_01",
"case_text": "A 23-year-old man with a medical history of treated TB presented to the emergency department with hemoptysis for one week. His symptoms started with a dry cough that progressed from blood-tinged sputum to frank blood over three weeks. He had associated fever, chills, night sweats and subjective weight loss. His previous symptoms had completely resolved and he moved to the United States from Nepal one year prior to the hospital admission.\nOn physical examination, the patient was afebrile, hemodynamically stable with a generalized cachectic appearance and diffuse rhonchi bilaterally on pulmonary auscultation. His labs were notable for a normal leukocyte count, a hemoglobin of 11.7 g/dL, and normal chemistries. The chest x-ray, Fig. 1, had a lucency in the left suprahilar region and bilateral peribronchial thickening of the upper lobes. A follow up CT scan, Fig. 2, showed multiple cavitary lesions at the superior segment of the left lower lobe.\nOn hospitalization day 2, a microscopic smear of his sputum showed many acid-fast bacilli that was later identify in cultures as Mycobacterium tuberculosis complex. He was started on a 5-drug regimen with rifampin, isoniazid, pyrazinamide, ethambutol and moxifloxacin due to his prior history of possible resistant TB. He continued to have persistent hemoptysis and worsening anemia requiring a transfusion due tachycardia and dyspnea, suggesting massive hemoptysis. Four days after the anti-tuberculosis medication was initiated, he developed respiratory distress and was transferred to the medical intensive care unit and was placed on non-invasive positive pressure ventilation but did not improve. Thus, he underwent an urgent bronchoscopy, revealing a significant burden of blood clots in the left main bronchus that did not allow for a complete survey of the airway. As a result, an endobronchial blocker was placed and the patient was evaluated by interventional radiology. He underwent urgent left bronchial artery angiography with embolization of two abnormally hypertrophied left bronchial arteries.\nThe following day, he underwent repeat bronchoscopy that showed persistent clot burden in the left main bronchus. Given his active tuberculosis, difficulty with oxygenation, and multiple cavitary lesions, the decision was made to proceed with left lower lobectomy. On gross examination, the lobe of lung was severely congested weighing 645 g (normal weight of a complete left lung: 395 g). There was widespread consolidation with nodules containing caseous material, Fig. 3A. It corresponded to necrotizing nonsuppurative granulomas with a peribronchial and subpleural distribution in a miliary pattern, Fig. 3B. The granulomatous inflammation extended around medium sized vessels causing destruction of the vasa vasorum and secondary obliterative endarteritis, Fig. 3C. Numerous cavities developed in relation to necrotizing granulomas with suppuration and hemorrhage, Fig. 3D. Round foreign particles were deposited in the arterial lumina, consistent with a prior embolization procedure. Intra-alveolar hemorrhage emerged after bleeding into the cavitating granulomas due to destruction of vessel walls, Fig. 3E and F. Few acid-fast organisms consistent with L-shaped mycobacteria were identified on FITE stain, Fig. 3G-I. Other special stains including Kinyoun cold procedure, auramine-rhodamine staining, and mycobacterium immunostaining, were negative for acid fast bacilli.\nOn hospitalization day 6 the patient's family, who was previously unable to contacted, arrived at the hospital and the team was able to provide additional history regarding his previous TB therapy. He was diagnosed with multidrug resistant (MDR) TB seven years prior to admission and treated for 18 months with rifampin, isoniazid, pyrazinamide, ethambutol, moxifloxacin and an injectable medication, the name of which they could not recall. The following day, the Health Department confirmed fluoroquinolone-resistant tuberculosis by nucleic acid amplification testing (NAAT). Rifampin, isoniazid, and moxifloxacin were discontinued and the patient was started on amikacin, linezolid, meropenem, clavulanate, para-aminosalicylic acid and ethionamide. Bedaquiline was requested from the Centers for Disease Prevention and Control (CDC). After his lobectomy, he required persistent intensive care unit monitoring because he would not tolerate extubation trials along with multiple episodes of mucous plugging, which required multiple bronchoalveolar lavages. He was successfully extubated on hospitalization day 14. The patient was transferred to the regional TB center of Florida on hospitalization day 21.\nAfter an additional two months of being monitored and treated at the regional tuberculosis center, the patient was discharged to the community and continued his treatment under directly observed treatment through the department of health.",
"gender": "Male"
}
] |
PMC6446130
|
[
{
"age": 0,
"case_id": "PMC4131002_01",
"case_text": "Stromal cells are important systems that support tumor cell growth and metastasis. We used 18-month-old BALB/cBy mice (obtained from the National Institute on Aging) orthotopically implanted with 4T1 breast cancer cells as a model to study the effect of exercise on stromal cell populations. The 4T1 breast cancer cell line in mice is highly invasive, with the ability to metastasize to lungs, brain, liver, bone, lymph nodes, and blood, similar to triple negative invasive breast cancer in women.\nMice were randomly selected, with 15 mice in the running group. Runners were given access to free running wheels in individual cages as previously described. We monitored the running activity continuously for 60 days. 4T1 cells (ATCC, Manassas, VA), cultured under standard laboratory conditions, were injected at a concentration of 1x104 cells into the 4th mammary fat pad of each mouse. Mice were allowed to run another 30 days when the experiment ended. Running wheels (measuring 15.5 cm by diameter) transmitted electronic signals wirelessly to a monitoring hub (Med Associates ENV-044, Vermont) and raw data were exported to Microsoft Excel for processing. The distance ran by each mouse was calculated as (3.14x15.5 cmxnumber of revolutions)/(100 cm per mx1,000 m per km). Mice were housed in a standard rodent room within a specific pathogen-free (SPF) barrier facility with 12-hour light and dark cycles. Ambient temperature in the room was kept at 70-74 F. Mice were fed standard rodent chow (5,053; Picolab, Richmond, IN) and water ad libitum. The experimental protocol was reviewed and approved by the Institutional Animal Care and Use Committee at the University of Washington, Seattle.\nAt 30 days post-tumor cell injection, mice were euthanized by CO2 asphyxiation. Carcasses and mammary tumors were weighed to obtain tumor burden, defined as tumor weight normalized to carcass weight. The breast tumor from each mouse was fixed in 10% neutral-buffered formalin. Immunohistochemistry was performed as previously described using paraffin-embedded tumor sections. Primary antibodies to specific markers were incubated at 1:50 for 1 hour. Sections were blocked in 15% goat/5% mouse serum. BGA rat secondary antibodies (Jackson ImmunoResearch Labs Inc., West Grove, PA, USA) were used and incubated at 1:200 for 30 min and slides then counterstained with hematoxylin. Digital images were captured using a Nikon Eclipse E400 bright field microscope (Nikon Corporation, Tokyo, Japan) attached with a Nikon Coolpix 995, digital camera (Nikon Corporation, Tokyo, Japan; 3.3 megapixels, resolution 2,048x1,536 pixels). Five random images at 60x magnification were captured per tumor sample under blinded conditions and saved in JPG (Joint Photographic Experts Group) format. The number of labeled cells was also determined blindly and independently by two co-authors of this paper (CPB and WL) by counting positive cells in a grid of eight squares encompassing the entire plane of view at 20x magnification per slide using five random field views. The labeling index was calculated as the average percentage of stained cells relative to unstained cells. Student's t-test was used to detect significant differences between groups.\nDuring the tumor progression phase of 4T1 breast cancer in old BALB/c mice, we observed significant differences in labeling for F4/80, a marker for mouse macrophages, and CD34, a marker for vascular endothelial cells, in primary tumors from mice that ran higher average distances compared to mice that ran lower average distances, p<=0.05, N=2, from four mice (Table 1). It can be seen that macrophages are much less frequent in a tumor from a long-distance runner (Fig. 1a) compared to a tumor from a short-distance runner (Fig. 1b). The decrease in CD34 labeling in a long-distance runner (Fig. 1c) compared to a short-distance runner (Fig. 1d) suggests that increased running distance was also associated with decreased vascularization. There were no significant correlations between running distance and labeling for cell proliferation (Ki-67) or apoptosis (Caspase 3) in primary tumors (Table 1), suggesting that exercise training might be targeting stromal cell populations. Even though pre-tumor running was associated with an anti-tumor effect in a distance dependent manner, no correlation was seen between tumor burden and running distance during the tumor progression period. It is possible that the rapid and aggressive tumor growth may have overwhelmed any anti-tumor effects by suppressed stromal cells. However, there were no significant correlations between distance ran before tumor injection and labeling for F4/80 and CD34 as well as for Ki67 and Caspase 3 in primary tumors collected at the termination of the study (data not shown) suggesting other unknown mechanisms are likely responsible for the antitumor effects of pre-tumor running.\nThese observations suggest that immunohistochemistry can be used to monitor stromal cell populations in tumors from old mice under exercise conditions, and further support the concept of using old mice for modeling in preclinical cancer studies.",
"gender": "Male"
}
] |
PMC4131002
|
[
{
"age": 33,
"case_id": "PMC2718185_01",
"case_text": "A 33-year-old housewife with primary Sjogren's syndrome was admitted for the evaluation of dyspnea and general weakness which had persisted for two years. The patient claimed to have no history of smoking, allergies or occupational exposure to noxious agents. Physical examination revealed coarse breathing sounds with inspiratory crackle extending over the whole of the both lung fields. However, the results of blood analysis were normal.\nChest radiographs demonstrated the presence of bilateral, diffuse, reticulonodular densities in both lungs (Fig. 1A). Thin-section CT scan showed diffusely distributed mosaic pattern of inhomogeneous attenuation extending over the entirety of lung zones, without zonal predominance. There was no difference in the extent of mosaic attenuation between inspiratory (Fig. 1B) and expiratory thin-section CT scans (Fig. 1C). As compared with more highly attenuated areas of the lung, however, the caliber and number of pulmonary vessels in areas of the lower attenuation were reduced. There were several foci of bronchial wall thickening, and these were more frequently found in areas of lower attenuation. In the right lower paratracheal area and subcarinal area, the presence of several small lymph nodes less than 1 cm in short axis diameter was noted.\nFlexible fiberoptic bronchoscopy revealed no remarkable finding, though transbronchial multiple biopsies obtained from the right anterior segmental bronchus showed some lymphocytic infiltration. Cytologic analysis showed that the composition of bronchoalveolar lavage fluid was 45% lymphocytes, 1% eosinophils, and 54% macrophages. Open lung biopsy was performed in areas of both higher and lower attenuation. Histologic examination disclosed focal collections of lymphoid cells around bronchioles and extension of lymphoma cells from bronchiolar epithelium toward alveolar space. Immunocytochemically, the neoplastic cells reacted positively for CD 20 antigen and were focally positive for UCHL 1 antigen. Monoclonal antibody against cytokeratin indicated multiple lymphoepithelial lesions. The histologic diagnosis was consistent with low grade marginal zone B-cell lymphoma originating in BALT.",
"gender": "Unknown"
}
] |
PMC2718185
|
[
{
"age": 14,
"case_id": "PMC5925949_01",
"case_text": "A 14-year-old girl was referred to the Danish Center of Interstitial Lung Disease, Aarhus University Hospital for specialized treatment due to a newly diagnosed aPAP. She complained of a constant cough and dyspnea on exertion starting a year before referral. Neither antibiotics nor inhaled corticosteroids improved the patient's condition and further investigations were performed at another hospital. High resolution computed tomography (HRCT) showed bilateral changes typical for PAP with not a classical crazy paving pattern (Fig. 1). A surgical biopsy revealed alveoli filled with a granular proteinaceous material, strongly eosinophilic on hematoxylin-and eosin staining (HE) and positive with the periodic acid-Schiff stain and diastase-resistant (PAS + D), which is considered characteristic for PAP (Fig. 2). Blood assays showed elevated high levels of GM-CSF antibodies. There was no suspicion of rheumatological or hematological diseases. Based on these results a diagnosis of aPAP was confirmed and the patient was referred for treatment.\nAt the time of referral to our department the patient reported regular cough and dyspnea upon physical exertion. She had no weight loss, fever or recurrent infections. She had no family history of lung disease and was a never-smoker. Physical examination was normal. Pulmonary function tests revealed a forced expiratory volume in one second (FEV1) of 2.23 L (62%), forced vital capacity (FVC) of 2.64 L (70%), total lung capacity (TLC) of 72% and carbon monoxide diffusing capacity (DLCO) of 54% of predicted. Arterial gas analysis showed pO2 within a normal range of 14.3 kPa. According to the classification proposed by Inoue et al. her disease severity score (DSS) was 2 (symptomatic and PaO2 over 70 mmHg). After evaluation of the patient's history she was treated with WLL without improvement. After the third WLL, supporting treatment with inhaled GM-SCF was therefore initiated. Firstly, sargramostim (Leukine; Sanofi-Aventis; 250 mug x 2 per week) was used for a short period, but when molgramostim became available in a named patient program, it was decided to change the inhalations to rhGM-CSF - molgramostim (Molgradex; Savara Pharmaceuticals). We chose the following treatment protocol: 300 mug daily in seven days repeated with seven days of pause. After seven months, the therapy was intensified to 300 mug daily. HRCT one year after the treatment did not reveal significant regression of the crazy-paving pattern. Nevertheless, there was a significant clinical improvement with remission of all her symptoms, as well as in her pulmonary function, which almost normalized. After 17 months of molgramostim inhalations her FEV1 was 2.58 (79%), FVC 3.05 (79%), TLC 77% and DLCO 74% of predicted. No adverse effects of the molgramostim inhalations were observed. The patient is now stable, and the inhalations have been discontinued.",
"gender": "Female"
}
] |
PMC5925949
|
[
{
"age": 52,
"case_id": "PMC9124883_01",
"case_text": "A 52-year-old woman without a family history of migraine and dystonia was admitted to our department due to intractable migraine for about 5 days and walking difficulties for 1 day. She has had a history of headaches for over 20 years with one or two attacks per year described as a throbbing or swelling pain in the occipital region or even the whole brain with an intensity of 6 to 9/10. There was no significant aura before the attack. The headache attack was accompanied by numbness and coldness of the painful area and stiffness of the neck, and nausea and vomiting without photophobia or phonophobia. At worst, she could not take in any food or medicine because of vomiting. The headache usually lasted for 5-6 days and could last up to 15 days, and was slightly relieved by ibuprofen and flunarizine. On the fourth day of this attack, she suddenly suffered an inability to walk lasting for 1 day. She could stand on her own without any dizziness. However, every time she tried to start walking, she felt stiffness in both lower extremities and was unable to step and walk, but could only maintain an upright position. And, it did not change with prolonged standing time. In addition, no movement other than walking was affected. When she was lying down, the movement of both lower extremities was not restricted and she could raise and lower her legs and move them in any direction at will. The same symptom happened once 6 years ago, and it resolved on its own after lasting for 1 h.\nThe physical examination and vital signs were unremarkable, and the neurologic examination was normal. The patient showed a task-specific lower limbs dystonia, characterized by the appearance of sustained dystonic extension of both knees induced by stepping or walking attempts. Magnetic resonance imaging (MRI) scan of the brain showed no significant abnormalities (Figure 1). The patient underwent a lumbar puncture, the cerebrospinal fluid (CSF) pressure was 125 mm H2O (normal range: 80-180 mmH2O), and the biochemistry and cytology of the CSF were negative. Her blood tests were regular, including routine blood work, liver function, kidney function, ions, D-dimer, and markers of myocardial damage. The contrast transcranial doppler echocardiography (cTCD) showed a latent and massive right-to-left shunt (RLS), that was, more than 25 microbubbles were detected using insonation of the left middle cerebral artery (LMCA) after the release of the Valsalva maneuver (Figure 2). No microbubble was seen in the resting state. Right heart contrast echocardiography confirmed the result. Her echocardiography revealed no abnormalities in the structure and function of the heart at rest.\nFinally, the patient was diagnosed with migraine and dystonia of the lower extremities induced by it. The cTCD and right heart contrast echocardiography suggested that she had a patent foramen ovale (PFO). Transesophageal echocardiography (TEE) was required to clarify her heart condition further. The patient's headache lasted for 12 days and was relieved with oral ibuprofen (two capsules per day) and flunarizine (10 mg per day). The symptom of the inability to walk cleared spontaneously staying for 1 day, and she was capable of walking slowly and awkwardly during the consultation. Other than medicines for headaches, no additional treatment was given, similar to the situations 6 years ago. Considering the presence of PFO, we recommended she avoid actions that would increase chest pressure, such as diving, violent coughing, and strenuous exercise, which would be of considerable benefit for preventing her headaches. At a follow-up 6 months after the attack, the patient had no episodes of headache and walking difficulty. Unfortunately, owing to financial problems, the patient did not undergo a relevant genetic test, making it difficult to explore the etiology of her condition further.",
"gender": "Female"
}
] |
PMC9124883
|
[
{
"age": 63,
"case_id": "PMC4789418_01",
"case_text": "We report a case of a 63-year-old Caucasian female found to have high grade endometrial carcinoma while undergoing evaluation for postmenopausal bleeding. The initial suspicion was from an abnormal pap smear done 3 years ago showing possible adenocarcinoma cells. Endometrial biopsy was done and showed high grade endometrial adenocarcinoma with serous features. The patient underwent surgical staging 4 months later with total abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic lymphadenectomy, and omentectomy. Out of the total 21 resected lymph nodes, one was involved with cancer and the carcinoma was staged at T3aN1M0, Stage 3.\nFollowing surgical staging and tumor resection, the patient underwent chemotherapy with three cycles of carboplatin and paclitaxel at 21-day intervals, followed by pelvic radiotherapy (planned total dose 5040 cGy), and finally three additional cycles of carboplatin and paclitaxel. Initial doses of carboplatin were targeted at 750 mg/cycle (AUC = 6) and paclitaxel at 175 mg/m2. Because of extended duration radiation related Grade 3 colitis, radiation therapy was stopped after receipt of 1980 cGy. Patient then underwent 3 more cycles (cycles 4-6) of chemotherapy with carboplatin and paclitaxel. The total cumulative dose of paclitaxel was 1511 mg and that of carboplatin was 4312 mg.\nPrior to beginning chemotherapy, the patient had normal blood counts except for a mild iron deficiency anemia (hemoglobin 11.2 gm/dL, white blood cell count 7200/mm3, and platelets 168,000/mm3). Her platelet count after completion of radiation therapy was 120,000-140,000/mm3, with mild anemia and a normal white blood cell count. After receiving the sixth and final dose of chemotherapy, her platelet count fell to 80,000/mm3 and did not recover.\nSix months after last cycle of chemotherapy, patient was hospitalized thrice over a period of two months with high grade fevers. She had worsening anemia and thrombocytopenia during this period which prompted a bone marrow biopsy. This revealed a hypercellular marrow with overall 5% myeloblasts with megaloblastic changes in the red cells and myeloid series and normal appearing megakaryocytes (Figures 1 -3). The peripheral blood showed marked anisocytosis with moderate normocytic normochromic anemia and left shifted myeloid series and thrombocytopenia (Figure 4). The findings were consistent with treatment related myelodysplastic syndrome with refractory anemia and excess blasts. Karyotyping revealed abnormal female karyotype: 45,XX,add(3)(p13),del(3)(q23q25),-5,add(5)(q13),add(7)(q11.2),der(17)t(5,17)(q15;q25).\nWithin six weeks of the diagnosis of myelodysplasia, she had progressed to acute leukemia. Initial lab work revealed leukocytosis up to 76000 with 22% blasts; anemia with Hb 6.4 g/dL; and thrombocytopenia with counts of 15,000/mm3. She was given a provisional diagnosis of therapy related AML. A bone marrow biopsy revealed hypercellular marrow with 29% of cells blasts. The blasts exhibited both myeloid and monocytic features and a diagnosis of acute myelomonocytic leukemia (AML; FAB classification: M4) was made. Peripheral smear also showed persistent leukocytosis with blasts >27% along with anemia and thrombocytopenia which eventually required transfusions.\nPatient was offered treatment options including chemotherapy for AML and then possible stem cell transplant but decided not to pursue chemotherapy and opted for supportive treatment. She died a week later due to pneumonia and respiratory failure.",
"gender": "Female"
}
] |
PMC4789418
|
[
{
"age": 35,
"case_id": "PMC7711970_01",
"case_text": "A 35-year-old woman presented with a 3-month history of waist and back pain. Examination revealed a tumescent left supraclavicular lymph node (no mass was touched in the breast). Imaging revealed multiple hypermetabolic foci of FDG in the proximal axial bone and appendage bone as well as multiple and tumescent lymph nodes on the bilateral pulmonary hilum. There was no sign of viscera metastases. Core biopsy showed poorly differentiated metastatic breast carcinoma that was estrogen receptor positive, progesterone receptor negative, and strongly human epidermal growth factor receptor (HER2) positive (3+).\nPalliative chemotherapy with docetaxel (75 mg/m2), cisplatin (75 mg/m2), and trastuzumab (6 mg/kg, first treatment using 8 mg/kg) was started for 6 cycles, followed by two cycles of docetaxel and trastuzumab treatment. After the treatment, CT scanning showed that all the lymph nodes disappeared and symptoms of pain all over the body had also been relieved. Nevertheless, the patient's platelet count decreased to 48 x 109/L before the 9th treatment. Docetaxel-induced bone marrow suppression was suspected, and trastuzumab and capecitabine (1.5 g, bid, 1-14 d) were used for the 9th treatment. Meanwhile, recombinant human thrombopoietin (TPO) was injected to increase the platelet level. As anticipated, the platelet count returned to normal in 3 days.\nBefore the 10th treatment, the platelet count of the patient was 99 x 109/L (Figure 1a). Trastuzumab and capecitabine were used again for the 10th treatment. The patient felt tiredness and nausea and all-over body petechiae, and gums bleeding occurred after a 6 h trastuzumab infusion. Blood examination showed that the platelet count was 1 x 109/L. Blood smear examination showed severe thrombocytopenia with no schistocytes, spherocytes, clumps, and giant platelets. Bone marrow biopsy showed normal megakaryocytopoiesis without signs of tumor infiltration. Heparin had never been used and other causes of thrombocytopenia such as disseminated intravascular coagulation, thrombotic thrombocytopenic purpura, hereditary thrombocytopenia, and hemolysis were excluded because of her normal clotting, D-dimers, immunoglobulins, hemoglobin, renal function, bilirubin, and lactate dehydrogenase as well as lack of schistocytes. After consultation with the hematologist, drug-induced thrombocytopenia was suspected. Given the treatment effect of trastuzumab, capecitabine was withdrawn and 3 weekly trastuzumab was maintained. After treatment with platelet transfusion, TPO, and corticosteroids, the platelet count returned to the normal level (Figure 1b). Trastuzumab alone was used for the 11th treatment. Dental bleeding, diffuse petechiae and ecchymosis occurred again in 24 h after the infusion and the platelet count decreased to 5 x 109/L (Figure 1c). The new bone marrow biopsy results were consistent with the previous one. After reviewing the treatment process and referring to relevant literature, a diagnosis of trastuzumab-induced thrombocytopenia was finally made. After treatment with platelet transfusion, TPO and corticosteroids, the platelet count returned to normal.\n Consent: Written consent was obtained from the patient for publication of this case report.",
"gender": "Female"
}
] |
PMC7711970
|
[
{
"age": 45,
"case_id": "PMC8176203_01",
"case_text": "A 45-year-old male patient presented with complaints of a nasal forehead mass which had gradually increased in size over the past 5 years and influenced his appearance.\nThe patient found the nasal-root mass 5 years ago. The mass was the size of a peanut, soft, of normal skin color and with a swollen smooth surface, often exhibiting self-absorption with no other discomfort. In October 2018, nasal mass resection was performed at a local hospital and postoperative pathology was unclear. A relapse occurred in January 2019 and the mass gradually increased in size over the next 10 months, to approximately the size of 5 cm x 2.5 cm. The patient came to our department for a clear diagnosis and treatment.\nThe patient was in good health and had no history of chronic disease. In 2012, he underwent appendectomy in a local hospital due to acute appendicitis.\nPhysical examination of the nose upon admission showed that the shape of the nose was normal. The left part of the nasal-root mass was about the size of 5 cm x 2.5 cm. It was soft, with a smooth surface, no redness or swelling, no ulceration, and no tenderness.\nNo abnormalities in terms of renal function, erythrocyte sedimentation rate (ESR), rheumatism, serum complement (C3/C4), quantitative immunoglobulin determination, immunoglobulin IgG4, antinuclear antibodies or ANCA were found. The possibility of Kimura's disease was not considered before surgery, and IgG4 and IgE levels were not detected before the operation. Positive laboratory results are shown in Table 1.\nAfter admission, computerized tomography (CT) and magnetic resonance imaging (MRI) examination of the patient's paranasal sinuses were performed. MRI showed an iso-intense signal in the T1 sequence, iso- and hyper-intense signal in the T2 sequence (Figures 1A-C) and enhancement in the T1 enhanced sequence with an unclear boundary. CT showed a soft tissue signal in the nasal forehead with an unclear boundary (Figure 1D).\nThe pathological findings were as follows: in the hyperplastic fibrous tissue, there were hyperplastic lymphoid tissues, lymphoid follicles, a large number of eosinophils between follicles and small hyperplastic blood vessels in the follicles, which focally infiltrated striated muscle (Figure 2). Immunohistochemistry findings were as follows: CD3(+), CD20(+), CD21(FDC+), CK(-), and Cyclin D1(-).",
"gender": "Male"
}
] |
PMC8176203
|
[
{
"age": 64,
"case_id": "PMC7218215_01",
"case_text": "A 64-year old man presented for evaluation of chronic shortness of breath associated with recurrent episodes of lower respiratory tract infections. He also reported two episodes of expectoration of frothy, bloody streaked sputum 3 days ago. He was a never smoker and worked as a constructor and welder. He denied having symptoms of dry eyes or dry mouth. There was a history of arterial hypertension, hypercholesterolemia and gastroesophageal reflux disease. His medication included nifedipine 5mg o.d., nebivolol 2.5mg o.d. and esomeprazole 40mg o.d. There was no family history of lung diseases.\nOn examination the patient was afebrile, with a heart rate of 63 beats/min, respiratory rate of 12 breaths/min, BP of 130/70 mm Hg and oxygen saturation of 97% on ambient air. Chest auscultation revealed expiratory wheezing. There were also multiple whitish papules in the face, nose and retroauricular area (Fig. 1). According to the patient they were attributed to his welding history and were considered a manifestation of allergic/photosensitive dermatitis. The rest of the physical examination was normal.\nComplete blood count (CBC) revealed a mild increase in eosinophils (420/mm3). Rest of CBC and metabolic panel were within normal limits. Pulmonary function test revealed an obstructive pattern with significant bronchodilator reversibility: FEV1/FVC ratio was of 69%. FEV1 pre bronchodilation was 2.82 lt (81% predicted), FVC was 4.09 lt (100% predicted) and FEV1 post bronchodilation was 3.28 lt (+460ml, +16.3%). DLco and TLC were within normal limits, 88% and 94% predicted respectively. Chest X-Ray was reported as normal but because of the history of hemoptysis multidetector Computed Tomography (MDCT) of the thorax was performed. It revealed multiple lung cysts with lower lung predominance. Some cysts appeared to be septated, elliptical and the majority of them were located in the subpleural and paramediastinal region (Fig. 2). Due to the reported hemoptysis bronchoscopy with BAL was performed. Airways were patent and there were no signs of active or recent hemorrhage. BAL revealed 74% macrophages, 21% lymphocytes, 1% eosinophils and 4% neutrophils. Cultures were negative for common pathogens, fungi, Mycobacterium Tuberculosis and Nontuberculous Mycobacteria.\nThe combination of isolated diffuse cystic lung disease (with the aforementioned morphological and distribution characteristics) and skin findings raised suspicion of BHDS. Biopsy of the skin lesions revealed follicular epithelium proliferation surrounded by perifollicular fibrous sheaths, diagnostic of fibrofolliculomas (Fig. 3). Thus, the diagnosis of BHDS was established.",
"gender": "Male"
},
{
"age": 55,
"case_id": "PMC7218215_02",
"case_text": "A 55-year old man presented for evaluation of abnormal findings on his thorax CT. The latter was performed for investigation of chronic cough. He was an ex-smoker (quitted 7 months ago) with a total of 45 pack years. He denied xerostomia or xerophthalmia. He reported a history of arterial hypertension under treatment with irbesartan 150 mg o.d. There was no family history of lung or kidney diseases.\nOn examination the patient was afebrile, with a heart rate of 76 beats/min, respiratory rate of 14 breaths/min, BP of 110/60 mm Hg and oxygen saturation of 98% on ambient air. Chest auscultation was clear. There were limited white dome shaped papules on the forehead and the temporal region of the face (Fig. 4). The patient never conceived the presence of these \"white spots\" as a sign of skin disorder. Complete blood count (CBC) revealed and metabolic panel were within normal limits. Pulmonary function test was normal: FEV1/FVC ratio was of 77%, FEV1 was 85% predicted, FVC was 88% predicted, DLco was 73% predicted and TLC was 91% predicted.\nThorax MDCT revealed multiple thin wall cysts, some of which were bilobated and in relation to the fissures (Fig. 5). Skin biopsy revealed fibrofolliculomas and the diagnosis of BHDS was made.",
"gender": "Male"
}
] |
PMC7218215
|
[
{
"age": 50,
"case_id": "PMC3014856_01",
"case_text": "A 50-year-old male presented with a fifteen day history of multiple painful lesions on the soles. He reported a \"burning sensation,\" pruritus, and progressive pain with marked limitation in walking. He denied history of insect bite or trauma to the affected area. He had been traveling in Guinea-Bissau, were he walked in bare feet on a beach. There were pigs and goats. His prior medical history was unremarkable. On physical examination multiple 1 cm, round, white papular lesions with a small brown-black central core where distributed on the soles and lateral aspect of the third and fifth toes of the right and left foot, respectively (Figures 1 and 2). A diagnosis of tungiasis was suspected based on the clinical history and physical findings. Surgical incision of the lesions with deep removal of the content was performed under local anesthesia (Figure 3). The content from the wound was analyzed throught optic microscopy and showed multiple Tunga penetrans eggs (Figure 4). The patient went on topical fusidic acid cream with healing of the lesions.",
"gender": "Male"
}
] |
PMC3014856
|
[
{
"age": 30,
"case_id": "PMC5869570_01",
"case_text": "Our patient was a 30-year-old woman who was diagnosed with stage III (T4bN1a) superficial spreading melanoma of the hollow of the right knee in 2009. She was treated with excision and underwent lymphadenectomy. No other adjuvant treatment was initiated. In 2015, she was diagnosed twice with a solitary \"in-transit\" metastasis on the right leg for which excision was performed. At the end of 2015, a third solitary in-transit metastasis on the right leg was diagnosed, which was also excised, unfortunately without achieving histological radicality. Due to the persistent recurrences of metastatic disease, BRAF mutation was analysed and showed BRAF V600 positivity of the tumour. At that time, ultrasound showed a viable, intrauterine monochorionic-diamniotic twin pregnancy with a gestational age of 65/7 weeks. Intralesional chemotherapy was indicated due to the non-radical excision, but was deemed unsafe considering the early pregnancy. Instead, re-excision under local field block anaesthetic was performed. One month later, another two in-transit metastases on the right leg were excised.\nTwo months after the last excision, she presented to the emergency room with abdominal pain, persistent vomiting, and constipation. Ultrasound and MRI showed an intussusception of the jejunum over a length of 10-15 cm, para-aortal lymphadenopathy, and a viable pregnancy of 18 weeks. She underwent a laparotomy, confirming the diagnosis of intussusception. The affected jejunum was resected. Histologic examination of the resected bowel and a sample of the tumours palpable in the mesentery showed metastatic melanoma. A PET/CT scan at 216/7 weeks of gestation (low-dose 18F-FDG, with bladder catheter) showed multiple cutaneous and breast metastases. An MRI of the brain showed solitary metastases in the temporal lobe. Due to the high tumour load, non-viable gestational age with the wish to continue her pregnancy and a BRAF V600 pathogenic mutation of the tumour, the patient was started on vemurafenib (twice a day, 960 mg) at a gestational age of 225/7 weeks after extensive counselling. At that time, both fetuses had normal weight on ultrasound, and no congenital anomalies were seen. Twelve days after commencing vemurafenib, our patient reported some mild skin toxicity, starting with some erythema on the face and back. The skin lesions rapidly worsened within 9 days with profound erythema and blisters on the neck, thorax, and arms covering over 70% of her body surface area, and purulent discharge from the eyes. Following this rapid progression of skin toxicity, our patient was admitted to the hospital and vemurafenib was immediately discontinued. Skin biopsy showed toxic epidermal necrolysis (TEN).\nThe patient was admitted to the intensive care unit the next day, where she was sedated and intubated for pain management. She required extensive rehydration due to significant insensible loss. In addition, betamethasone for fetal lung maturation was given in anticipation of preterm delivery because of maternal deterioration. There were no signs of spontaneous preterm labour or intrauterine infection. At a gestational age of 262/7 weeks, 25 days after the start of vemurafenib and within 1 day after intubation, the patient was transferred in a sedated state to an academic centre with both a neonatal intensive care unit (NICU) and burn specialty unit to provide optimal care for her second-degree TEN lesions, which now covered 98% of her body and oral mucosa (Fig. 1). On arrival, she was found to be in labour and she delivered both children while still sedated (first baby by forceps extraction, second baby by breech extraction). Two baby boys were born with birth weights within the normal range; one with a birth weight of 950 g and an APGAR score of 2 and 3 at respectively 5 and 10 min and one with a birth weight of 900 g and an APGAR score of 6 at 5 and 10 min. Both children were admitted to the NICU.\nDuring the burn centre hospitalization, some re-epithelialization occurred, but unfortunately, the patient suffered several episodes of wound infection which delayed the wound healing. Initial topical treatment with alginate dressing was replaced by silver sulphadiazine upon diagnosis of pseudomonas wound infection. The mucosal lesions in the mouth caused significant bleeding. Oral rinsing with povidone solutions seemed effective but caused a iodide intoxication with hypothyroidism and a high anion gap acidosis. Corneal erosions and conjunctival adhesions were treated intensively in collaboration with the ophthalmologist. The first weeks were characterized by fluid loss and oedema, and pleural effusion complicated weaning from the ventilator. Once stabilized, the patient responded well to diuretics. Renal function remained normal throughout the burn centre stay. After delivery, oncological treatment with pembrolizumab would have been indicated once the TEN had improved and clinical condition improved. However, 53 days after delivery and 78 days after the start of vemurafenib, and before our patient could start with pembrolizumab, she died of an intracranial haemorrhage due to metastatic disease.\nBoth children were discharged from NICU to special nursery care 59 days after delivery and were discharged home 95 days after delivery. At a corrected age of 15 months, physical examination showed no abnormalities. Mental development was assessed using the Bayley Scales of Infant and Toddler Development (BSID). The first-born boy (birth weight 950 g) is developing normally, with a Bayley cognitive development score of 82 (developmental age of 15 months). The second boy (birth weight 900 g) was not able to undergo cognitive testing due to persisted crying, but his family did not notice any developmental delay. Long-term follow-up is needed to evaluate their long-term neurodevelopment.",
"gender": "Female"
}
] |
PMC5869570
|
[
{
"age": 46,
"case_id": "PMC4744614_01",
"case_text": "A 46-year-old female was referred to t department with pain and edema of her right leg. She was a known case of hypertension and hyperlipidemia and had a history of left leg DVT about two years ago. In previous admission she was discharged on warfarin but after few months of treatment, warfarin had been stopped due to active peptic ulcer disease. Collagen vascular markers such as antinuclear antibody (ANA), anti-double stranded DNA (anti-dsDNA), anticardiolipin and lupus anticoagulant antibodies were negative in first admission which were requested due to recurrent abortions (three times) in her past medical history. Doppler ultrasound was performed to evaluate her leg pain and edema. Findings revealed popliteal and superficial femoral vein thrombosis. She was admitted again and anticoagulant therapy was started. During her admission, dyspnea was developed; so pulmonary computed tomography angiography (CTA) was performed and pulmonary emboli was demonstrated (Figure 1). In addition to dyspnea she was complaining of abdominal pain and non-bloody diarrhea. Thrombosis of intra-abdominal vessels was ruled out with magnetic resonance venography (MRV). Since her abdominal pain was resistant to analgesics and she had a past surgical history of appendectomy, abdominal CT scan was performed which showed sub-mucosal bleeding and thickness of jejunum indicating probable IBD diagnosis. The patient underwent colonoscopy due to abdominal pain, past medical history, intermittent non-bloody diarrhea, and abdominal CT findings. Unexpectedly, patchy ulceration was seen coincident of IBD (Figure 2). The patient was treated by intravenous un-fractionated heparin and discharged on warfarin. Follow up in out-patient clinic for international normalized ratio (INR) level monitoring (target between 2 and 3) was arranged.",
"gender": "Female"
}
] |
PMC4744614
|
[
{
"age": 54,
"case_id": "PMC4821156_01",
"case_text": "A 54-year-old male visited the emergency department because of fatigue and fever a day before admission. He did not have any respiratory or abdominal symptoms. The patient's medical history revealed that he had started treatment for hypertension 3 years ago and that he had been prescribed valsartan (80 mg/day) and amlodipine (5 mg/day). Physical examination showed a BMI of 27.5 kg/m2, blood pressure of 156/96 mm Hg, pulse rate of 137 bpm, temperature of 40.1 C, oxygen saturation of 95% (room air), and crackles at the base of the right lung.\nCT was performed, and ground-glass opacities were detected in the right middle and lower lobes. Considering these clinical findings together with a positive urinary test for Legionella antigen (Binax, Portland, Maine, USA), a diagnosis of Legionella pneumonia was confirmed. Laboratory data on admission are summarized in table 1. The patient had mild renal dysfunction and hypophosphatemia, while the other electrolytes were within the normal range. Glycemic control was within the ideal range. Arterial blood gas measurement demonstrated hypoxemia and mild respiratory alkalosis. Furthermore, urinary analysis revealed proteinuria, glycosuria, panaminoaciduria, and phosphaturia. Urinary N-acetyl-D-glucosaminidase (U-NAG) and urinary beta2-microglobulin (U-beta2-MG) levels were also elevated.\nAfter initiation of antibiotic therapy, serum C-reactive protein (CRP) levels improved (fig. 1). The elevation of U-NAG and U-beta2-MG also improved with recovery from pneumonia. Glycosuria, proteinuria, panaminoaciduria, and phosphaturia also improved rapidly. Serum phosphate and ratio of maximal tubular reabsorption of phosphorus/glomerular filtration rate (TmP/GFR) levels reached the normal range on the 5th day after admission.",
"gender": "Male"
},
{
"age": 71,
"case_id": "PMC4821156_02",
"case_text": "A 71-year-old male presented with fever, nausea, and fatigue 3 days before admission. He did not have any respiratory or abdominal symptoms. He had been previously healthy and had not taken any drugs. Physical examination showed a BMI of 21.7 kg/m2, blood pressure of 140/90 mm Hg, pulse rate of 102 bpm, temperature of 40.1 C, oxygen saturation of 95% (2 liter/min, nasal cannula), and crackles in the left lung.\nChest CT showed ground-glass opacities in all lobes of the left lung. A urinary test for Legionella antigen was positive, and the diagnosis of Legionella pneumonia was confirmed. Laboratory analyses on admission are summarized in table 1. Serum creatinine levels were within the normal range (0.88 mg/dl), and estimated GFR was 65.6 ml/min/1.73 m2. Arterial blood gas measurement revealed hypoxemia and mild respiratory alkalosis. Hypophosphatemia, phosphaturia, and renal tubular dysfunction were also present. As for mineral homeostatic regulators, serum FGF-23 level was unmeasurably low, 1,25(OH)2 vitamin D was within the normal range (57.2 pg/ml, normal range: 20.0-60.0), and intact PTH (i-PTH) was not elevated (30 pg/ml, normal range: 15.0-68.0) on admission.\nAfter administration of ciprofloxacin at 600 mg/day, the levels of serum CRP, U-NAG, and U-beta2-MG improved (fig. 2). Renal tubular dysfunction, including glycosuria, proteinuria, panaminoaciduria, and phosphaturia, improved with recovery from pneumonia. Delayed elevation of 1,25(OH)2 vitamin D levels was present on the 3rd day after admission. Serum FGF-23 levels gradually increased with improvement in renal tubular dysfunction, serum phosphate, and TmP/GFR levels. Serum i-PTH levels did not increase during the whole period.",
"gender": "Male"
}
] |
PMC4821156
|
[
{
"age": 8,
"case_id": "PMC3551515_01",
"case_text": "An 8 year-old girl with a past medical history of constipation presented with a history of vomiting for nine months. The vomiting was intermittent, non-bloody, at times bilious, and occasionally contained food particles. An abdominal ultrasound was performed which demonstrated debris within a dilated proximal duodenum. The superior mesenteric artery (SMA) and superior mesenteric vein (SMV) were visualized with the SMA lying to the left of the SMV with normal anatomic alignment [Figure 1]. No large solid or cystic masses were seen.\nA standard barium single contrast upper gastrointestinal (UGI) series was performed with the contrast entering the antrum and duodenal bulb. The proximal duodenum and descending duodenum were markedly dilated in caliber with apparent tapering of the third part of the duodenum. There was an abrupt cutoff with no contrast extending beyond approximately the mid abdomen [Figure 2]. Delayed images were obtained while the patient was supine with contrast never extending beyond the third portion of the duodenum [Figure 3].\nPatient was subsequently placed prone for several minutes with eventual slight transit of contrast [Figure 4]. Thirty minute delayed prone images demonstrated contrast in the proximal small bowel, however proximal duodenum remained markedly dilated and contrast/debris filled [Figure 5]. Additionally delayed overhead images demonstrated contrast extending to the distal small bowel after patient had been upright for greater than 30 minutes [Figure 6]. Markedly dilated proximal duodenum with abrupt cutoff in the third portion of the duodenum raised concern for a questionable mass like positionally dependent extrinsic compression of the third portion of the duodenum.\nA subsequent computed tomography (CT) of the abdomen and pelvis was performed with oral and intravenous contrast. The duodenum was distended with the third part of the duodenum tented downward [Figure 7]. The duodenal/jejunal junction was severely narrowed and coursed distally anterior to the right common femoral artery below the bifurcation [Figure 7].\nThe patient was taken for an exploratory laparotomy and found to have dense vascularized bands without intestinal malrotation. Upon entering the abdomen, the cecum was noted to be in normal anatomical position. Further exploration in the abdomen revealed the proximal jejunum tethered by dense vascularized bands running from approximately five inches distal to the ligament of Treitz down into the pelvis. The cecum was incidentally noted to be folded back on itself and adherent to this tented portion of the jejunum. After these adhesions were ligated, the bowel was examined and no other anatomical abnormalities were discovered. The patient experienced a normal post-operative course with subsequent complete resolution of symptoms.",
"gender": "Female"
}
] |
PMC3551515
|
[
{
"age": 31,
"case_id": "PMC6452554_01",
"case_text": "A 31-year-old woman (gravida 5, para 2) was referred to our hospital due to labor pain. She was suspected to have SLE because of facial erythema at age 29 years, but clinical and serological findings failed to satisfy the diagnosis criteria for SLE. She gave birth to two boys without any problems at age 23 years (birth weight, 2822 g) and 26 years (birth weight, 2946 g). The fetal heart monitor showed non-reassuring fetal status. A female neonate was born by emergency cesarean delivery at 35 weeks and 3 days. The neonate weight was 1,909 g. She had fetal growth restriction (FGR) and Apgar scores of 5 and 7 (1 minute and 5 minutes). Her skin was pale. She had congenital erythematous and scar lesions on the face, back, and upper and lower extremities (Figure 1). An examination revealed a slight elevation in hepatic transaminases, thrombocytopenia, and mild cardiac failure. No heart blockage was detected. The serological examination of the neonate showed elevated anti-SSA/Ro (281 U/mL) and anti-SSB/La antibodies ( 1000 U/mL). Other antibodies were normal range (anti-DNA antibody 2.0 IU/mL, anti-RNP antibody <2.0 U/mL), and complements were not reduced (C3; 92 mg/dl, C4; 22 mg/dl). The serological examination of the mother also showed elevation of these antibodies, and a histological examination demonstrated lymphocytic infiltration of the minor salivary gland; therefore, a diagnosis of Sjogren syndrome was made. The symptoms of the neonate had almost resolved by 7 months of age.\nThe placenta was 17 x 13.5 x 2 cm and weighed 285 g. The amnion color was green, and the cut surface showed anemia. Histological examination revealed collapsed capillaries in the terminal villi (Figure 2(e)). No apparent inflammatory cells or thrombus formation was found in the fetal vessels. Partial focal maternal vessel thrombosis was noted, but no apparent infarction was seen. A meconium stain with amnion degeneration was observed in the amnion. Focal maternal thrombosis and increased syncytial knots were also present.\nImmunohistostaining of a normal placenta (Figure 2(b)), placenta with maternal SLE (Figure 2(d)), and the placenta involved in this case (Figure 2(f)) was performed using C4d (ABGENT, San Diego, CA, USA). In the normal placenta, focal or weak C4d deposits were present at the syncytiotrophoblasts, but not in the lumen of the vessels (Figure 2(b)). C4d deposits were strongly observed at the syncytiotrophoblasts in SLE cases (Figure 2(d)). The placenta with NLS showed C4d deposition in the lumen of the capillaries of the terminal villi (Figure 2(f)). C4d deposition was also seen in the stem vessels, chorionic vessels, and umbilical vessels in this case. C4d deposition was not detected in the maternal vessels.",
"gender": "Female"
}
] |
PMC6452554
|
[
{
"age": 81,
"case_id": "PMC5771727_01",
"case_text": "An 81-year-old man with a history of multiple KCs, including SCC of the left forehead, sought treatment for recurrent stage III (T4, N0, M0) SCC with orbital invasion. Prior treatment included Mohs micrographic surgery and skin grafting. The patient underwent resection by an otolaryngologist, and the tumor was found within the orbit, with extension into the frontal sinus, posterior orbital wall, ethmoid sinus, and inferiorly into the superior edge of the medial maxillary wall. The orbital wall was reconstructed using titanium mesh embedded within a polyethylene implant, and, in 2012, a free flap was performed, followed by radiation and left eye enucleation.\nThe patient recovered from surgery but, over the next few years, continued to develop additional primary KCs at sites separate from the location of reconstruction, including SCCs on the right submental neck, right forehead, and left ear. Acitretin was taken for 2 months for chemoprevention of KC but was discontinued in early 2016 because of poor wound healing. One month later, the patient had significant pain and a small erosion of his left medial orbital rim, which he attributed to chafing from the bridge of his eyeglasses. Given concern for possible SCC recurrence with supratrochlear nerve involvement, a shave biopsy was obtained at the site of the patient's pain (Fig 1, A). There was a white linear plaque lateral to the biopsy site. Initially, this clinically appeared to be lichenification caused by recurrent friction from the patient's eye patch. The biopsy performed to rule out recurrent SCC showed spongiotic psoriasiform dermatitis likely of multifactorial etiology from past radiation therapy and erosive pustular dermatosis. He soon developed a 2-cm ulcer with clear exposure of the implant (Fig 1, B). Continued expansion of the ulcer while awaiting surgical resection raised concern for infection, recurrent SCC (assuming sampling error of the previous biopsy), poor wound healing secondary to prior usage of acitretin, and inflammatory dermatoses such as pyoderma gangrenosum or a variant of erosive pustular dermatosis (Fig 1, C). Treatment consisted of removal of hardware, left orbital exenteration, and free-flap reconstruction (Fig 1, D). The patient remains free of recurrent SCC at this site and without further surgical complications 14 months after the initial skin breakdown.",
"gender": "Male"
}
] |
PMC5771727
|
[
{
"age": 65,
"case_id": "PMC4831491_01",
"case_text": "A 65-year-old, non-obese male, a diabetic for the last 10 years on oral hypoglycemic agents (OHA), was admitted in the emergency department with the chief complaint of progressive breathlessness for last 15 days. Patient had history of paroxysmal nocturnal dyspnea and orthopnea for the last 10 days. History of pedal edema was present during that period. There was no history of chest pain, palpitations, syncope, fever, cough, wheeze, and abdominal distension. He was a non-smoker and normotensive. Patient did not report any recent weight gain. Review of other systems was normal. No significant past history was present. No records of previous ECG or echocardiography were available.\nIn treatment history, patient was taking combination of pioglitazone 30 mg, metformin 1 g, and glimepride 2 mg for the last 1 year. At the time of admission, pulse was 100/minute and was regular. No special character was noted. Blood pressure was 160/100 mmHg in the right upper limb. Respiratory rate was 24/minute. Jugular venous pressure was raised up to 6 cm above the angle of Louis. Bilateral pedal edema was present. Patient was afebrile. Examination of the cardiovascular system was normal. On chest auscultation, vesicular breath sounds were heard with extensive fine end-inspiratory crackles up to the interscapular area. Palpation of abdomen revealed tender hepatomegaly. Further examination was normal. On investigations, hemoglobin was 11.6 g% and total leukocyte count was 11,200/mm3. Biochemistry revealed the following values: Random blood glucose- 276 mg%, blood urea nitrogen- 20 mg%, serum creatinine- 0.9 mg%, serum aspartate aminotransferase- 58 U/l, serum alanine aminotransferase- 68 U/l, alkaline phosphatase- 215 U/l, and serum albumin 3.6 g%. Serum electrolytes and lipid profile were normal. Cardiac troponins were normal and D-dimer was negative. Urine examination was normal. Serial electrocardiograms were normal. Chest X-ray revealed picture of pulmonary edema with evidence of bilateral pleural effusion [Figure 1a]. A contrast-enhanced computed tomography (CECT) of chest done in a secondary care hospital was brought by the patient, which revealed ground glass opacities, particularly in the perihilar area, thickened interlobular septa, and bilateral pleural effusion [Figure 1b]. With this clinical and investigational profile, possibility of biventricular failure was suspected.\nPatient was started on heart failure treatment protocol. Intravenous diuretics and angiotensin converting enzyme inhibitors were added. OHA were stopped and patient was started on premixed insulin (30:70) for control of blood glucose. On the 2nd day of admission, patient's symptoms improved and 2D echocardiogram was done which documented normal systolic and diastolic functions, normal cardiac chambers, and no regional wall motion abnormality. The measurements on M-mode were: IVSed- 10, IVSes- 13, LVed- 56, LVes- 35, PW (LV) ed- 10, and PW (LV) es- 13. The left ventricular ejection fraction was 65%.\nOver the next few days, his symptoms improved gradually. On chest examination, the crackles disappeared, and pedal edema and raised jugular venous pressure resolved. Serial chest X-rays and repeat CECT chest showed radiological clearance [Figure 2a and b]. As no other cause for biventricular failure could be made and patient was on pioglitazone for the last 1 year, possibility of pioglitazone-induced pulmonary edema was suspected. This possibility also gains significance as the patient improved on stopping the drug. Patient was discharged on premixed insulin (30:70) and pioglitazone was not rechallenged. The adverse drug reaction (ADR) was reported to the hospital ADR monitoring center.",
"gender": "Male"
}
] |
PMC4831491
|
[
{
"age": 19,
"case_id": "PMC9380446_01",
"case_text": "Efforts in domestic HIV prevention prioritize working with disproportionately affected groups, including youth as a priority group, to meet national goals to reduce new HIV infections, increase engagement of infected persons in care, and decrease HIV-related health disparities. National and local data suggest that among youth aged 13-24, Black/African American and Hispanic/Latino youth carry the largest burden of disease, especially during the time of this study (see Figure 1a). For example in 2015, Black youth only made up 14% of the 13-19 year old population in the U.S., yet these youth accounted for 64% of new HIV diagnoses. The causes of these disparities are multi-level, including the role of mental health and emotion regulation in youth's sexual decision making and neighborhood-level poverty and disadvantage. These data underscore that research and program efforts with racial/ethnic minority youth, including individual and macro-level approaches, are urgently needed for domestic HIV prevention.\nTo facilitate routine HIV/STI testing and treatment and access for youth, all 50 states and the District of Columbia have laws in place that allow most minors (aged 12-17) to consent for their own sexual health care without parental permission:31 states explicitly include HIV testing and treatment as part of services accessible to youth. Despite these supportive HIV/STI care access policies for youth, and an ethical context which supports HIV/STI prevention and control with at-risk populations, controversy about parental permission and minors' \"maturity\" remain in research. According to the; see 45 CFR 46.402): \"assent\" is defined as a child's affirmative agreement to participate in research; \"permission\" is defined as the agreement of parent(s) or guardian(s) to the participation of their child or ward in research; and \"informed consent\" occurs when someone who is legally able to consent (> age 18 years) gives permission after having the knowledge of the possible risks, probable consequences, and alternatives. Empirical data support minors' competence to consent to research from the age of 12 and above, with recommendations for a dual child and parent consent only when the child has not reached the age where he/she is allocated rights for independent consent. Before the age of 12, or if the child has not reached the age of independent consent, minors may assent to research along with their parents'/guardians' consent for their participation (; see 45 CFR 46.408).\nValid medical, legal and ethical concerns exist regarding parental permission, waivers of permission, assent or consent by youth, and the definition of \"child\"/\"minor\" (someone under the age of majority, usually less than 18 years) in youth-focused practice and research. These issues are complex and often challenging for investigators, institutional review boards (IRBs), parents, youth, and community advisors. In addition, federal and local laws should be considered and balanced with the goals of protecting youth from risks. Understanding youths' evolving maturity and autonomy and the importance of low-risk, biobehavioral and clinical research activities for youth-focused public health practice warrant consideration.\nAt the intersection of ethics and law, two key areas potentially cause controversy in IRB determinations for sexual health research with youth: 1) level of risk, and 2) whether minors are emancipated for medical decision making under state or local law. Minimal risk studies are those in which the \"probability and magnitude of harm or discomfort anticipated in the research are not greater in and of themselves than those ordinarily encountered in daily life or during the performance of routine physical or psychological examinations or tests\" (; see 45 CFR 46.102(i)). note that in the absence of empirical data on the risks of daily life and routine examinations among children, IRB members may default to intuitive judgement of these risks, which can lead to systematic errors in interpretation and implementation of federal regulations. An IRB's assessment of minimal risk may also vary by institutional setting (e.g., academic center or hospital). In addition to risk determination, federal, state and local laws regulate issues such as the age of medical emancipation which determines whether minors can make medical decisions in the absence of a parent/guardian. From a research perspective, conflict can arise when IRBs disagree on the interpretation of state law in relation to a study's level of risk.\nDuring research collaborations, when multiple IRBs provide study oversight, the views and perspectives of IRB members may differ. These IRB disagreements can be challenging if they potentially lead to research delays, especially if the research is addressing public health prevention priorities, such as sexual health. noted the potential negative implications of local and federal IRB disagreements and suggested lessons learned to facilitate future adolescent sexual health research. Our current experiences (2012-2013) suggest that more still needs to be done to improve timeliness of human subjects' reviews, reduce IRB disagreements, and improve synergies among multiple entities in a youth-focused research team.\nIn this paper, we describe challenges and successes in the pre-research, human subjects' local and federal review processes that were undertaken before beginning a youth-focused, HIV/STI prevention research project with sexually active youth. The case study explains the issues we faced when seeking approval for a minimal risk study involving Black youth of minority age, all of whom were receiving outpatient mental health care services. At center stage was the controversy surrounding whether or not a waiver of parental consent was legally or ethically necessary under the federal rules for human subjects protection. Final approval was received by the federal funding agency, the local health department, and the University after reaching an understanding about the level of risk of the study and the fact that the youth were medically emancipated minors who were competent to consent to research participation under applicable state law. We believe the lessons learned through working with two IRBs and federal-level reviewers, and seeking a non-IRB-affiliated youth-expert legal opinion, may provide important contextual information for others working with youth in HIV/STI prevention research. Additionally, given youth-related consent challenges in both clinical research and practice, this topic may have implications for broader health-related strategies with youth, which are especially important given the urgent context of HIV/STIs among racial/ethnic minority youth.\nPhiladelphia, Pennsylvania is a northeastern city whose large, urban school districts ranked second nationally (after Memphis, Tennessee) among similar school districts on percentage of high school students who ever had sexual intercourse (61.0%, 95% CI: 56.1-65.6%) and who first had sexual intercourse before 13 years of age (15.1%, 95% CI:13.0-17.5%). Data from Philadelphia high school districts also ranked their high school students first among similar school districts regarding the percentage reporting four or more sex partners during their lifetime (27.2%, 95% CI:23.9-30.8%) and sexual activity during the most recent three-month period (44.9%, 95% CI: 40.4-49.6%). At the time of our study (2011), the rate of diagnoses of new HIV infections among youth aged 13-24 in Philadelphia was 56.1 per 100,000 population, over twice the national rate of 26 per 100,000 for persons aged 13-24 (; see Figure 1b).\nGiven the high rates of sexual risk behaviors among youth with mental illnesses and behavioral disorders, our HIV/STI risk-reduction study focused on youth receiving care in outpatient mental health treatment programs who reported current sexual activity. At the time of the study, the most common psychiatric diagnoses among Black youth in mental health treatment in Philadelphia were: attention deficit/hyperactivity disorder (43%), adjustment disorder (36%), oppositional defiant disorder (23%), disruptive behavior disorder (14%), and depression (11%); none of which are barriers to consenting for one's own care if under age 18 and assessed as competent by the mental health care providers. Due to the local epidemiology in Philadelphia, with Black youth being disproportionately affected by HIV/STIs, we sought to enroll youth aged 14-17 years who self-identified as Black (any racial or ethnic designation throughout the African diaspora) to develop and test an HIV/STI prevention intervention for at-risk Black youth receiving mental health treatment in an urban area.\nIn the state of Pennsylvania, minors (youth aged 14 to 17) can legally consent to both mental health treatment and HIV/STI testing and treatment without parental consent (Juvenile Law Center, 2006). This is especially important in the context of biobehavioral research, because under federal regulations, children are \"persons who have not attained the legal age for consent to treatment or procedures involved in the research, under the applicable law of the jurisdiction in which the research will be conducted\" (; see 45 CFR 46.402(a)). This has been interpreted to mean that if a minor is able to consent to medical health services under state law, the minor is also able to consent to participate in medical research. Therefore, the informed consent of minors in Pennsylvania is legally sufficient for participation and no parental permission or waiver is required.\nWe proposed to develop and test a HIV/STI risk-reduction intervention with sexually active Black youth receiving outpatient mental health treatment in Philadelphia. We established a youth-led community advisory board (CAB) and a youth advocate/ombudsman to ensure that the perspectives of the target population were infused through each aspect of the study. The youth CAB also created the study name: \"We are Kings and Queens.\"\nFor the group-level behavioral intervention (Authors), participants were randomized to either the HIV/STI risk-reduction program (treatment; n = 51) or general health promotion program (control; n = 57). The intervention consisted of a two-day, six- hour, skills-based, interactive educational program. The study procedures included focus group discussions (to inform the intervention content), electronic surveys (to collect demographic and behavioral data), diagnostic case ascertainment with the Mini-International Neuropsychiatric Interview, urine specimen collection for Chlamydia and Gonorrhea testing, and an oral swab for OraQuick ADVANCE Rapid HIV-1/2 antibody testing (unless declined by the participant). Laboratory testing was conducted for participants in both intervention conditions.\nThese research procedures were specific to the study and not part of routine care at the treatment programs. Two of the partnering agencies, however, did have relationships with outside providers to offer HIV testing onsite, reflecting moves toward the integration of HIV and behavioral health treatment. The primary outcome was consistent condom use. Secondary outcomes included sexual activity (frequency of vaginal, anal and oral sex), the number of concurrent and sequential sex partners, and laboratory confirmed HIV/STIs. We performed assessments at baseline, immediately post-intervention, and at 3-, 6-, and 12-month follow-ups.\nBefore beginning the study, human subjects approval was required from three groups: 1) the IRB of the academic home institution; 2) the IRB of the local health department; and 3) the reviewers at the federal agency that funded the study. The study materials were submitted to each group and revised several times to clarify wording and address concerns. Changes made to meet the requirements of one agency were resubmitted to the other agencies for their review and approval. Full board review was required given the study's complexity, which meant (at minimum) month-long waiting periods between review meetings. Some of the discussion points included: the appropriateness of mixed-gender focus groups for adolescent sexual health research, confidential recruitment of adolescent participants in clinics when parents/guardians are present, and actions to be taken for positive HIV/STI test results (e.g., linkage to care procedures). Additionally, given our target group of youth with mental illnesses, there was increased attention to human subjects' protections due to concerns regarding competency to provide consent and whether parents/guardians would be notified if their child tested positive for HIV/STIs.\nThrough a series of face-to-face meetings and email exchanges, we worked to address the concerns. We advocated for mixed-gender focus groups to preserve the richness of data that stems from the interactive dialogue between heterosexually-active males and females. We emphasized the high caliber training our facilitators received and created a behavioral management plan, at the IRB's request, to indicate how we would handle potentially challenging group dynamics. For participant recruitment when a parent/guardian was present, we agreed that recruiters would directly address both the parent/guardian and adolescent, identifying himself/herself as a research team member for a study on teen relationships. The adolescent was then informed that he/she could call the number on the business card for additional information. Adolescents were not screened in the presence of parents/guardians, and parents/guardians were not given details about the study. However, if a parent/guardian stated they did not want their child to participate in the study (at the time of approach or any time thereafter) we conceded to the IRBs request that we would not contact or enroll the adolescent in the study, even if he/she independently expressed interest in participation. Given that our target population of youth had all provided consent for their mental health treatment, the IRB approved our determination of competence to provide consent by study personnel as part of the screening process for enrollment. All participants were notified of their HIV/STI results. Those who tested positive for Chlamydia or Gonorrhea (n = 8, 7.4% at baseline) were notified of their results and referred to receive free treatment through the local department, or from their primary care provider. No participants tested positive for HIV, but positive cases would have been followed by the AIDS Service Organization that conducted the testing for confirmatory tests and linkage to care. While we were able to resolve these issues, there was a fundamental disagreement in the interpretation of the state law between the investigators and the review entities. The research team did not believe parental permission was warranted/applicable, while several local IRB members required parental permission, or at minimum, a solid justification for the appropriateness of a waiver.\nBased on Pennsylvania minor consent laws, the participants in this study did not qualify as minors (they did not meet the regulatory definition of minor) for purposes of human subject review; when minors do not meet these qualifications, they can participate in research as adults. Despite the documented legal guidance, obtaining approval became a challenge when the local and federal agencies disagreed about whether parental permission was required for the study. More specifically, the minors' consent to medical health services was not viewed by all parties as sufficient to justify research consent. In the opinion of several IRB members, medical/mental health care was a necessity, while research involvement was a voluntary procedure that they believed would require parental involvement. In other words, at the intersection of ethics and law, some reviewers believed that while the minor was medically emancipated under state law to make decisions, the ethical risk associated with research participation outweighed the state regulations.\nWe had multiple discussions with the committee members to provide context and accurate data regarding the Health Information Portability and Accountability Act (HIPAA) and the protected confidentiality of medical data, the urgency of the HIV epidemic among young people in Philadelphia (see Figure 1b), and the legal ramifications of sharing adolescent test results with parents without youth consent. We also provided information to the local and federal review agencies about the state laws and federal guidance in support of minors' consent for their own mental health and sexual health services. For example, the stated that \"...assent of such mature minors should be considered sufficient with respect to research about conditions for which they have legal authority to consent on their own treatment\" (pg. 18). Thus, although parental permission was not technically applicable under state law and federal guidance (Juvenile Law Center, 2006), our ethical review process required that we address the issue of parental permission/involvement.\nWe advocated to consent participants in the absence of parental involvement for several reasons: 1) to protect the youth participants' privacy regarding their involvement in consensual sex; 2) to ensure youth receive HIV/STI testing and treatment (if needed); 3) to encourage participants to give honest answers to the study questions (without fear of parent/guardian reactions); and 4) to be in line with state and federal guidance on the issue. Previous research with youth suggests that requiring parental permission may decrease their interest in participating in biobehavioral research, especially when STI testing is involved. In addition, some parents/guardians may request to receive their child's test results, which would be counter to the youth's desires and legal precedent for maintaining their confidentiality. Requiring parental permission would also violate local and federal rights and breach confidentiality for youth whose parents/guardians did not know that they were receiving mental health treatment, engaging in consensual sexual activity and possibly seeking sexual health services.\nDespite eleven separate meetings and discussions, the local and federal approving agencies were unable to reach initial consensus about parental involvement. The federal funding agency waited to consider the decisions of the two local IRBs before completing its review. The local IRBs suggested obtaining a youth-focused third party review of the protocol to help support a decision. We contacted attorneys at the Juvenile Law Center, a non-IRB-affiliated youth-legal expert firm in Philadelphia. They reviewed the study materials and concluded that the study's consent provisions were consistent with the Mental Health Procedures Act and HIPAA:a minor in Pennsylvania age 14-17 did not need parental consent to participate in the study. After several review and feedback sessions, both the academic institution and local health department IRBs approved written informed consent by the adolescent participants and waivers of parental permission for their parents. Approval by the local IRBs facilitated the green light by the federal agency to begin the study. The study was approved by all required local and federal bodies in March 2013; overall, a 14-month timeline for full review and approval of this protocol with associated suboptimal use of human and fiscal resources due to the lengthy delay.",
"gender": "Female"
}
] |
PMC9380446
|
[
{
"age": 65,
"case_id": "PMC7682142_01",
"case_text": "This procedure was applied in a case of 65-year-old woman with recurrent squamous cell carcinoma of the anus infiltrating the posterior wall of the vagina. After multidisciplinary staff decision, we performed an abdominoperineal excision of the rectum with en-bloc resection of the vaginal posterior wall in order to achieve tumor-free margins. It resulted in a large perineal defect surrounded by scar tissue damaged by radiotherapy. In the present case, the whole posterior wall of the vagina could be reconstructed.\nShe was asked to remain on bed rest for five days following surgery and was encouraged to be out of bed and ambulating on the sixth day. Postoperative monitoring was done exclusively by clinical examination (color and time for recapilarization). Postoperative course was uneventful and she was discharged home from hospital at postoperative day 9. Final pathologic report showed a rpT4N0 6.5x6.5cm squamous cell carcinoma with invasion of the vaginal submucosa. Resection was considered R0. \nAt six-weeks after surgery, clinical examination showed a solid anterior abdominal wall (Figure 2C) and a very satisfying vaginal reconstruction allowing the potential for normal function, i.e.: 1) vagina was >10 cm long; 2) vaginal opening easily admitted two fingers during examination; 3) the relationship of the posterior vagina and the perineum was almost perpendicular, and 4) there was no buildup of perineal skin above and beyond the flap.",
"gender": "Female"
}
] |
PMC7682142
|
[
{
"age": 62,
"case_id": "PMC8392798_01",
"case_text": "A 62-year-old male with past medical history of hypertension, hyperlipidemia, coronary artery disease, and arthritis was readmitted via emergency department for worsening chest pain, productive cough, and shortness of breath. His chest pain was pleuritic. He was discharged a week earlier from a 1-day hospital stay on a 10-day course of dexamethasone for coronavirus disease-2019 (COVID-19) infection, which he was unable to take. He was maintaining oxygen saturation of 88% on 6 L nasal cannula. Initial blood work was remarkable for leukocytosis 25.86 (ref: 3.1-8.50 x 103/uL) with bands elevated at 9%, anion gap 15, lactic acid elevated 3.3 (ref: 0.5-2.0 mmol/L), mild transaminitis with aspartate aminotransferase (AST) 113, and alanine aminotransferase (ALT) 153. Physical examination was remarkable for decreased air entry with bilateral crepitation. Computed tomography pulmonary embolus study confirmed presence of bilateral acute pulmonary emboli with possible right heart strain and bilateral infiltrates consistent with COVID-19 pneumonia. He was treated with heparin infusion, remdesivir, dexamethasone, 1 dose of vancomycin, and piperacillin-tazobactam as well as supportive breathing treatments consisting of albuterol nebulization as needed. He was then admitted to the medical floors for further management.\nEchocardiogram obtained later was resulted as normal left ventricular function with ejection fraction 55% to 65% with normal right ventricular pressure and no evidence of right ventricular dysfunction. Heparin infusion, remdesivir, and dexamethasone were continued. Vancomycin and piperacillin-tazobactam were given the initial 2 days to cover for superimposed bacterial pneumonia and later deescalated to amoxicillin-clavulanic acid on days 3 and 4 of hospitalization. Ultrasound abdomen done on day 4 showed no abnormalities within the liver or gallbladder.\nDuring hospitalization, patient was noticed to have worsening of liver enzymes which peaked at ALT 721 IU/L (normal <55 U/L) and AST 305 IU/L (normal value < 35 U/L). Other laboratory values were gamma-glutamyl transferase 114 IU/L (ref: 12-64 IU/L), albumin 2.7 g/dL (ref: 3.4-4.8 g/dL), alkaline phosphatase 49 IU/L (ref: 56-119 IU/L), and international normalized ratio 1.5. Further workup showed pro-calcitonin minimally elevated at 0.28 (ref: <0.05 ng/mL), d-dimer elevated at 12.89 (ref: <0.5 mg/dL), and fibrinogen was normal. His blood alcohol and acute hepatitis panel were negative on day 2 of hospital admission. Acetaminophen levels obtained on hospital day 4 were <0.6 (ref 0.00-50.0 microg/mL). At that point, remdesivir was discontinued on day 2 of admission as it was thought to have contributed to worsening of liver function. Antibiotics were discontinued as bacterial infection was less likely and it was thought amoxicillin-clavulanic acid could also have contributed to liver enzyme abnormalities. Computed tomography abdomen and pelvis with contrast (day 8) showed mild splenomegaly with no abnormalities noted in the liver or gall bladder.\nDespite discontinuation of remdesivir, antibiotics, and improving oxygen requirements, his liver function continued to worsen (see Table 1) and additional workup including autoimmune work up with anti-smooth muscle antibodies, systemic lupus erythematosus, and vasculitis panel were done and reported negative. Further testing with EBV and cytomegalovirus (CMV) serology were done, which revealed EBV viral capsid antigen (VCA) IgM positivity. He was also positive for EBV VCA IgG, EBV early antigen (EA) IgG, and EBV nuclear antigen (NA) IgG. EBV polymerase chain reaction was reported positive. CMV IgM antibody was negative; however, CMV IgG antibody was positive with reported value >10 (ref: 0.00-0.059). He remained stable with improving oxygen requirements and was eventually discharged home without the need for supplemental oxygen.",
"gender": "Male"
}
] |
PMC8392798
|
[
{
"age": 10,
"case_id": "PMC4862798_01",
"case_text": "Hydroa vacciniforme is a rare idiopathic photodermatosis uncommon in dark skinned patients, which usually begins in childhood before the age of 10 years old and disappear in adolescence, it begins symmetrically in photo exposed areas as a sensation of skin burning in less than 24 hours of sun exposition, and then a vesicular rash develops, become umbilicated and secondarily crusted. Within weeks, the scars heal and leave a residual varioliform scar appearance, the condition generally improves with regular use of high protection sunscreens and resolves during adolescence. In patients who do not respond to conservative treatment, use of systemic agents has been reported like psoralen with exposure to ultraviolet A [PUVA], ultraviolet B TL-01phototherapy, antimalarial agents and immunosuppressive medication. Our patient is a 10-year-old child -without pathological antecedents- who consulted for atrophic depressed scars after a vesicular rash, which begin with a sensation of skin burning a day after intense sun exposure. These scars are covered by hemorrhagic crusts in some areas and appear on exposed areas: face, ear, hands and forearms with erosive lesions of the lower lip. The Child reports that this is the second episode with an interval of 6 months between the 2 episodes.",
"gender": "Unknown"
}
] |
PMC4862798
|
[
{
"age": 0,
"case_id": "PMC5719537_01",
"case_text": "For a sample that was detected as G10P[14] from an unvaccinated 30-month old boy with acute gastroenteritis, large volumes of the 10% stool suspension were prepared and used for RNA extraction and sequence independent amplification as recently described to amplify all the 11 gene segments. The amplicons were sequenced by next-generation sequencing using the Illumina MiSeq 150 paired end method (Genomics Lab, Hudson Alpha Institute for Biotechnology, Huntsville, Alabama).\nIllumina sequence reads were analysed using CLC Genomics Workbench 6.0. A combination of de novo assembly and subsequent mapping to reference strain was used to obtain the full-length genome of the strain. The assembled gene sequences were aligned with reference rotavirus gene sequences using the ClustalW program within MEGA 5.05 package. Once aligned, the optimal evolutionary model that best fit each sequence dataset was identified using AICc criterion implemented in jModeltest2. The best models identified were TIM3+I (NSP1), TPM2uf+G (NSP2), TIM2+G (NSP3), TPM2uf+I (NSP4), TrN+I+G (NSP5, VP6), TIM2+I (VP1), GTR+I (VP2, VP3), GTR+G (VP4), and TIM3+I+G (VP7). Phylogenetic trees were constructed using PhyML version 3.0 with aLRT statistics computed for estimation of branch support, and p-distances were computed in MEGA 5.05 to determine the similarities of the genes to reference strains in GenBank. The scale bars on the phylogenetic trees represent proportion of substitution on a branch of each tree. The gene sequences were submitted to RotaC (http://rotac.regatools.be/) for genotype assignments. All the gene sequences of the G10P[14] genome has been deposited into the GenBank sequence database under accession numbers KU956006 through KU956016.",
"gender": "Male"
}
] |
PMC5719537
|
[
{
"age": 74,
"case_id": "PMC8415387_01",
"case_text": "A 74-year-old patient with known severe ischemic cardiomyopathy was admitted for congestive heart failure and atrial fibrillation with type 2 myocardial ischemia. The initial 12-lead ECG (Figure 1A) was obtained with limb leads placed on the torso position and reported as \"ST elevation and possible acute inferior wall myocardial infarction (MI)\". Repeat ECG with limb leads placed in standard, distal limb positions showed resolution of \"ST elevation\" in the inferior leads (Figure 1B).",
"gender": "Unknown"
},
{
"age": 76,
"case_id": "PMC8415387_02",
"case_text": "This ECG (Figure 2A) with torso limb leads placement was obtained in a 76-year-old patient which showed the presence of a Q wave in lead aVL suggestive of an old lateral wall MI. When the limb leads were moved from torso position to standard distal limb positions, a repeat ECG (Figure 2B) showed resolution of Q waves in lead aVL.",
"gender": "Unknown"
}
] |
PMC8415387
|
[
{
"age": null,
"case_id": "PMC4531616_01",
"case_text": "In 1997, the patient was diagnosed with MCTD after developing right knee arthritis, sclerodactly, Raynaud's phenomenon and digital vasculitis. She took 10 mg of prednisolone after diagnosis of interstitial lung disease in October 1998. In May 2000, the patient received intra-articular injections with triamcinolone in the right knee because of relapsing arthritis. She was admitted to Wallace Memorial Baptist Hospital in September 2001 with right knee pain and swelling, as well as calf swelling.\nOn admission, her temperature was 37.8 C. Physical examination showed swelling and mild tenderness in the right knee and calf. Both hands also revealed sclerosis with loss of skin flexibility and ulcerations on the tips of her fingers.\nOn admission, laboratory data was WBC 6,400/mm3, Hb 12.9 g/dL and platelets were 205,500/mm3. At that time, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were 46 mm/h and 1.7 mg/dL. Assays for antinuclear antibody (ANA) with fluorescein-labeled ANA method resulted in high titer (1:5120) and a speckled pattern. Specific autoantibody studies showed a high titer of U1-RNP antibody (3678 IU/mL). None of anti-ds DNA, anti-SS-A/Ro antibody, anti-SS-B/La antibody, anti-Sm antibody, anti-Scl 70 and anti-centromere antibody was positive. Rheumatoid factor was also negative.\nSerologic tests for human immunodeficiency virus (HIV) and Venereal Disease Research Laboratory (VDRL) were negative.\nChest computerized tomography (CT) showed mild esophageal luminal dilatation through the whole length and bilateral subpleural pulmonary fibrosis in both lower lobes of the lungs. Ultrasonography and magnetic resonance image (MRI) around the right knee showed a poorly defined mass lesion laterally to the semi-membranous tendon, anteriorly to the gastrocnemius muscle on the right leg (Figure 1). This extra-articular abscess extended from politeal fossa to the upper end of the Achilles tendon.\nAnalysis of the abscess showed decreased viscosity and was yellowish to bloody in color. WBC counts were 700 cells/mm3 and the differential form showed 50% polymorphonuclear leukocyte and 50% lymphocyte. Acid fast bacillus (AFB) stain showed strong positive but polymerase chain reaction (PCR) for mycobacterium tuberculosis was organisms negative. Gram stain was neither positive, nor was growth of on the culture.\nTotal excision of the abscess was attempted. A small window connected between synovial cavity of the knee and the huge cystic mass included multiple separated rooms. Pathologic findings of the specimen disclosed caseous central necrosis surrounding the granuloma (Figure 2).\nWe initially used the following anti-tuberculosis medications: isoniazide, rifampicin, ethambutol and pyrazinamide. Two months later, the culture for AFB disclosed M. avium in the PCR RFLP assay (PRA) and was resistant against multiple anti-tuberculosis drugs, except cycloserin, in sensitivity testing.\nAfter 9 months of anti-tuberculosis therapy, including cycloserin, we followed up with monthly ultrasonography. Some small cysts persisted between the soleus and the gatrocnemius muscle. We aspirated fluid using a guided ultrasonography. Aspirated fluid was clear of serosangious. Stain for AFB were negative. Culture for Mycobacterium was also negative. We continued the anti-tuberculosis therapy for 12 months and regularly followed up with ultrasonography after discontinuing the medication.",
"gender": "Female"
}
] |
PMC4531616
|
[
{
"age": 54,
"case_id": "PMC5118371_01",
"case_text": "A 54-year-old female was referred to our institution with a 1-week history of headaches. Her past medical history was unremarkable. Magnetic resonance imaging (MRI) revealed a large, partially necrotic and calcified tumor in the parenchyma of the left frontal lobe with marked surrounding edema and mass effect on midline structures, but without any dural attachment. The tumor appeared hypointense on non-contrast T1-weighted images (Fig. 1a) and iso-to hyperintense on T2-weighted images (Fig. 1b). The enhancement of the tumor was irregular and most prominent at its periphery (Fig. 1c-e). The preoperative clinical diagnosis was meningioma or calcified glial tumor. She underwent incomplete resection of the tumor and histopathologic examination revealed a malignant mesenchymal neoplasm displaying a poorly differentiated spindle cells with interspersed eosinophilic osteoid production, calcification intimately associated with the malignant cells, and localized new bone formation (Fig. 1f). Immunohistochemistry was negative for epithelial membrane antigen (EMA), glial fibrillary acidic protein (GFAP), CD34, desmin and neurone specific enolase (NSE) but positive for vimentin (Fig. 1g), P53 (Fig. 1h), osteopontin (Fig. 1i) and osteonectin (Fig. 1j). Antisera against the proliferation marker Ki-67 revealed very variable immunoreactions (80%). Given the microscopic appearance a histopathologic diagnosis of primary intracerebral osteosarcoma was made. \nExtraskeletal osteosarcoma is rare and is defined as a malignant mesenchymal neoplasm that produces osteoid as well as bone or chondroid material and is located in the soft tissue without any bony attachment (Chung and Enzinger). Primary intracranial osteosarcoma most often represent intracranial invasion from a tumor arising from the skull (Salvati et al.), and meningeal osteosarcomas which arise from the mesenchymal components of the meninges are also reported (Dagcinar et al.). However, primary intracerebral osteosarcoma is rare with very few reported cases in literature.\nWe performed a PubMed search for all cases of primary intracerebral osteosarcoma up to September 2016. Cases were analyzed for basic demographic features including age, sex, chief complaint, location, treatment, and clinical outcome (Table 1).",
"gender": "Female"
}
] |
PMC5118371
|
[
{
"age": 35,
"case_id": "PMC8010170_01",
"case_text": "A 35-year-old male presented with diarrhea and abdominal pain after eating seafood and drinking 5 months before admission. The abdominal pain could be relieved after defecation. Two weeks later, he began to have a fever, up to 39.8 C, accompanied by chills. He was admitted to the local hospital and broad spectrum antibacterial drugs were started empirically. Despite antibiotics, the fever continued to occur repeatedly, in peaks up to 41 C, and the diarrhea persisted. Then the patient was suggested to be transferred to our institution.\nLaboratory tests showed leukocytosis (20.79 x 109/L), moderate anemia (69 g/L), increased percent of neutrophils (91.6%), increased C-reactive protein (CRP) (80.90 mg/L), procalcitonin (PCT) (5.87 ng/ml) and erythrocyte sedimentation rate (ESR) (106.0 mm/h) level, and mild hypoalbuminemia (31.0 g/L). Stool routine revealed Leukocyte ++++/HP, pus cell ++++/HP, stool blood was positive. Amoeba cysts were found after repeated stool examinations, but no trophozoites. Blood cultures, HBV, CMV-DNA, TORCH-IgM, G/GM, TB-IGRA, parasite antibody were negative. The plasma biochemistry of liver and kidney functions were normal. A total of three colonoscopes and biopsies were performed for the patient, and the results showed multiple irregular ulcers in the whole colon (Figure 1). Colonic biopsies diagnosed Epstein-barr virus-associated lymphoproliferative disorder, but the sample was inadequate for definitive diagnosis. Bone marrow examination showed the proliferation of hematopoietic cells were active, mainly granulocytes, and immature granulocytes increased. Findings of CT images of chest and neck were normal. Contrast-enhanced CT scan of the whole abdomen revealed multi-segmental intestinal wall thickening and enhancement (Figure 2A). 18F-FDG PET/CT demonstrated increased FDG uptake in the whole colon, bone marrow and spleen (Figure 3).\nTreatment of the patient was provided with anti-infective (moxifloxacin, rifaximin, metronidazole and imipenem, vancomycin, and cefperazone-sulbactam, tigecycline were given successively). However, he still had diarrhea and recurrent fever, the body temperature fluctuated at 39-40 C. Blood cultures were still negative. No positive bacilli was found by acid fast staining and no DNA fragment of Mycobacterium tuberculosis was found by qPCR. During the hospitalization, the patient developed a fierce abdominal pain, CT indicated gastrointestinal perforation (Figure 2B). An emergency surgery was performed. During surgery, it was found that there were two 0.5 cm breaks in the ileocecal junction, a 3 cm break in the descending colon, three perforation holes of varying sizes were seen in the sigmoid colon with a diameter of about 0.5-1 cm, and three 0.5-4 cm breaks in the upper rectal segment 3 cm from the peritoneal reflection. The intestinal wall around the breaks was edematous and congestive. He underwent total colectomy and enterostomy. ENKTL was diagnosed for pathological diagnosis of surgical samples. Histologically, the tumor cells were medium in size with irregular nuclei (Figure 4B). There were mixed inflammatory infiltrated mainly including lymphocytes and plasmacytes. The tumor cells infiltrated the whole wall of the intestinal wall with ulcer, necrosis (Figure 4A). Immunohistochemical staining showed that CD3, CD2, CD43, granzyme B (GB), TIA-1 were positive, while CD20, CD5, CD7, CD4, CD8, CD56 were negative (Figures 4B-G). CD30 was focally positive. The Ki-67 labeling index was 60% (Figure 4I). EBV-encoded small RNA (EBER) analysis showed positive (Figure 4H). Gene rearrangement test found the low amplification peak of TR gene.\nAfter recovering from surgery, the patient was treated with two courses of etoposide 50 mg and dexamethasone 5 mg (ED) regimen. Gemcitabine was added on the third day of the second course of therapy. Two weeks later, PD-1 monoclonal antibody 100 mg was used to replace ED regimen because his general condition and the expected chemotherapy tolerance were poor (A total of 3 times, each interval of 3 weeks). Fortunately, the patient was discharged the next day after the last treatment with PD-1 monoclonal antibody. By the time he was discharged from the hospital, his general condition improved significantly. PD-1 monoclonal antibody 100 mg was used on day 23, 56, 85 after discharged. To date, the patient has treated with a total of six courses of PD-1 monoclonal antibody. Eleven months follow-up was uneventful.",
"gender": "Male"
}
] |
PMC8010170
|
[
{
"age": 30,
"case_id": "PMC9490482_01",
"case_text": "A 30-year-old gravida 2, para 1, sexually active married female presented to the emergency department complaining of redness and swelling of the left labia, along with painful sexual intercourse and vaginal discharge for 1 month. She reported a regular menstrual period. Physical examination revealed a solid, erythematous mass arising from the left lateral vaginal wall. The uterus and adnexa appeared within normal limits on bimanual examination and transvaginal ultrasonography. There were no urinary or bowel symptoms. The patient had no relevant family history. Routine lab values like complete blood count (CBC), coagulation, electrolytes, C-reactive protein (CRP), and renal function were all within the normal range. With the mass initially highly suspicious of Bartholin abscess, antibiotics including ceftriaxone and metronidazole were started and the patient was scheduled for a Bartholin abscess drainage surgery. Intraoperatively, a solid mass was noted confluent with the left lateral vaginal wall. This lesion was surgically excised and was sent for histopathological examination. The findings were consistent with a benign leiomyoma, as the microscopy revealed smooth muscle bundles that vary in size and run in multiple directions without necrosis, and each cell is spindle-shaped with an eosinophilic cytoplasm and an elongated nucleus with no mitotic activity (Figures 1 and 2).\nThe patient was discharged the next day with an uneventful postoperative course, and her follow-up visit showed a healthy operation site with no complications.",
"gender": "Female"
}
] |
PMC9490482
|
[
{
"age": 56,
"case_id": "PMC7472830_01",
"case_text": "A 56-year-old male was diagnosed with multiple HCCs in Barcelona Clinic Liver Cancer (BCLC) stage B. The patient had chronic viral hepatitis B and received standard antiviral therapy. He had no medical history of glucose intolerance, autoimmune diseases, thyroid dysfunction, or other systemic diseases (e.g., Cushing's syndrome), and no evidence of acute infection, trauma, or drug poisoning. He also had no family history of diabetes, autoimmune diseases, and hereditary diseases. Psychosocial assessment showed that the patient had no mental, physical, or emotional health issues. After unsuccessful treatment with trans-hepatic arterial chemotherapy and embolization (TACE), the patient voluntarily participated in the CISLD-1 trial, provided signed informed consent in July 2019, and started to receive Sintilimab at a dose of 200 mg every 3 weeks. Five months after receiving Sintilimab, tumor marker examination and imaging scans showed that the treatment was effective. The patient's alpha-fetoprotein (AFP) level decreased to 40.4 mug/L from a baseline level of 9829.9 mug/L (Figure 1A). Magnetic resonance imaging (MRI) showed that the tumor nodule in the liver had shrunk dramatically with a response evaluation of partial regression (PR) according to Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1 (Figure 1B). During these months, the patient felt mild fever regularly; however, there was no fatigue, nausea, erythema or any other side effect found.\nAt 24 weeks, after 8 courses of Sintilimab, the patient presented with increased urination and drinking for 1 week, and blood tests showed that his fasting plasma glucose was as high as 22.2 mmol/L, with an HbA1c value of 7.8%. Considering the high risk of diabetic ketoacidosis, blood gas analysis was performed, which revealed that he had severe metabolic acidosis, with an arterial pH of 7.27, serum bicarbonate of 12.9 mmol/L, and lactate of 1.8 mmol/L. The blood ketone body determination was positive. Therefore, the patient was suspected to have new onset diabetes mellitus with ketoacidosis and was admitted to our hospital. Further blood assessment showed that the patient's fasting insulin was as low as 1.5 mIU/L and fasting C-peptide was 1.12 ng/mL (0.78-5.19 ng/mL), which further decreased to 0.21 ng/mL 4 days later. The oral glucose tolerance test (OGTT) revealed that the fasting, 1-, 2-, and 3-h plasma glucose levels were 12.34, 18.32, 28.38, and 25.41 mmol/L, respectively, accompanied by a 2-h postprandial C-peptide level of 0.30 ng/mL and a serum insulin level of 10.4 mIU/L. In addition, the patient's serum inflammatory cytokines, measured using an enzyme-linked immunosorbent assay (ELISA), demonstrated an interleukin-6 (IL-6) level of 786.32 pg/mL, which decreased to 338.70 pg/mL 2 months later (Table 1). There was no infection, medication, thromboembolic event, or other factor (Autoimmune diseases, Cushing's syndrome, or drug poisoning) that could cause hyperglycemia. Consequently, Sintilimab-induced new-onset autoimmune diabetes was diagnosed. However, the anti-glutamic acid decarboxylase 65 (GADA) antibody, anti-islet cell antibody (ICA), and anti-insulin (IAA) antibody tests were all negative. In addition, the type 1 diabetes-related alleles of human leukocyte antigen (HLA) class I and II, which were explored at the loci of HLA-A, B, C, DRB1, DQA1 and DQB1 by sequence-based typing primed PCR (Table 2), revealed that the most relevant allele was HLA-A*0201. For other endocrine function assessments, thyroid hormones showed that the patient's serum total triiodothyronine (TT3) and free triiodothyronine (FT3) were slightly decreased, but later become normal without oral thyroxine treatment (Table 1). Moreover, the levels of anterior pituitary hormones and their regulated hormones were all normal (Table 1). The patient received insulin therapy delivered by micropump, maintaining water and electrolyte acid-base balance and other supportive treatment to correct acidosis. Thereafter, he was treated with insulin therapy subcutaneously, which was adjusted daily to the dose of once-daily basal insulin glargine (long-acting insulin, 30 units) plus thrice-daily prandial insulin aspart (fast acting insulin, 14 units) during his hospital stay. The patient's plasma glucose returned to normal levels gradually and he was discharged 10 days later (Figure 2). Subsequently, the patient's plasma glucose was monitored in the outpatient setting and the insulin therapy was gradually adjusted to once-daily basal insulin glargine (28 units) plus thrice-daily prandial insulin aspart (15 units). Then, the patient received continued Sintilimab administration, which resulted in a further decreased in his AFP level (Figure 1A). And the patient's plasma glucose level was stable during follow-up visits.",
"gender": "Male"
}
] |
PMC7472830
|
[
{
"age": 21,
"case_id": "PMC7700966_01",
"case_text": "A 21-year-old male presented to our emergency department with the complaints of peri-umbilical pain, migrating to the right lower quadrant which started two days ago. The pain was mild to moderate in intensity and associated with nausea, vomiting. The patient had a history of similar pain in the last few months. The past medical history was not significant and the patient had no history of associated co-morbidity. The family history and drug history were unremarkable. Initial assessment demonstrated that the patient was febrile (38 C) with blood pressure of 120/80 mmHg and pulse rate was 88 beats per minute. On examination, right lower quadrant and inguinal canal tenderness were found. There was no evidence of abdominal distension. Laboratory findings included elevated inflammation markers: White Blood Cells count: 13 x 103 g/L and granulocytes of 88 % and C-reactive protein level of 8 mg/dl. Renal function tests and electrolytes was normal. Plain abdominal radiography was unremarkable. Urgent computed tomography of the abdomen and pelvic demonstrated a tubular blind-ended structure originated from the cecum wall and extends to the hernia sac which made suspicion of inguinal hernia (Fig. 1). The patient underwent a diagnostic laparoscopy and operative finding was an inflamed appendix in the right inguinal canal suggesting amyand hernia (Fig. 2, Fig. 3). Laparoscopic appendectomy was performed. Due to sever inflammation and congestion op parietal peritoneum at site of inguinal canal following the extraction of appendix from umbilical canal, an open tissue repair of inguinal floor in Bassini manner, was performed by attending surgeon. The patient underwent antibiotic treatment and routine surgical wound care. No immediate postoperative complications were seen, so the patient was discharged after a 48 h and returned for the follow-up at the days ten as well as one month after with no complication. Histopathology revealed acute appendicitis.",
"gender": "Male"
}
] |
PMC7700966
|
[
{
"age": 34,
"case_id": "PMC6026916_01",
"case_text": "A 34-year-old woman attended our hospital complaining of a palpable mass in the superior lateral quadrant of her right breast. Physical examination revealed a painless and relatively hard, removable mass measuring ~2.6x3.5 cm, with no palpable axillary lymph nodes. Her breast had no nipple discharge, skin ulcers, orange-peel appearance, or nipple retraction. Her medical history included AML (classification: M2) diagnosed 3 years earlier, based on nasosinal space-occupying lesions. She underwent six cycles of chemotherapy with cytosine arabinoside and achieved satisfactory disease control and remission, indicated by postchemotherapy bone marrow examination. The patient had no other symptoms or signs and no relevant family history.\nA mammogram showed a ~2.5x2.4 cm round mass with well-defined, irregular margins in the superior lateral quadrant of the right breast, 4.5 cm from the nipple, with a thick blood vessel passing through the tumor from the chest wall. Another mass was detected in the inferior lateral quadrant of her right breast, 2.1 cm from the nipple, measuring ~1.4x1.1 cm. Several axillary lymph nodes could be observed on the right side, the largest being ~1.9 cm in diameter (Figure 1). Breast ultrasound clearly demonstrated a hypoechoic mass measuring ~3.7x2.6 cm in the superior lateral quadrant of the right breast (Figure 2). The mass was lobulated with an unclear edge, with numerous low-speed bloodstream signals within and close to the mass (resistive index: 0.60). There was another homogenous, hypoechoic mass below the nipple, measuring ~1.8x1.1 cm in diameter, with a clear edge and an irregular shape. Color Doppler flow imaging showed rich blood supply signals from the surrounding soft tissue. There was a well-defined, hypoechoic nodule ~1.8 cm in diameter within the right armpit. No other focal masses were observed on the ultrasonographic image.\nA complete blood count demonstrated a white blood cell count of 8.07x109/L, a neutrophil count of 5.81x109/L, the hemoglobin levels of 137 g/L, and a platelet count of 188x109/L. The results of chest radiography and abdominopelvic computed tomography were normal. Fine needle aspiration of the two tumors was performed, and inflammatory cell infiltration and granular calcification with several atypical epithelial cells in the background were identified, suggesting possible malignancy. Considering the differential diagnosis between breast cancer and lymphoma, we performed a bone marrow aspirate examination, which revealed no abnormalities. A lumpectomy was therefore performed under local infiltration anesthesia. The cut surface demonstrated two tumors, well-circumscribed in relation to the adjacent structures. The tumors were ~3x3x2.5 cm and 2x2x2 cm and were located ~0.5 cm apart. Based on the examination of frozen sections, the patient was diagnosed with poorly differentiated malignant tumor.\nPostoperative paraffin-based histopathology showed dense myeloid cellular proliferation with breast tissue invasion. Immunohistochemical examination demonstrated that the tumor was strongly positive for myeloperoxidase, CD43, and human leukocyte common antigen (Figure 3); weakly positive for CD20, kappa, lambda, and progesterone receptor; and negative for CD79-alpha, CD3, CD38, CD10, CD5, CD56, AE1/AE3, estrogen receptor, and C-erbB-2. The histological features were consistent with breast GS. The patient was treated with four cycles of consolidation chemotherapy postoperatively (12 mg/m2 idarubicin once a day on days 1 and 2, plus 1 g/m2 cytarabine per half a day on days 1-3) and achieved remission. She was followed up by bone marrow aspiration and breast Doppler ultrasound examinations every 3 months and remained in good health at the 1.5-year follow-up.",
"gender": "Female"
}
] |
PMC6026916
|
[
{
"age": 74,
"case_id": "PMC8097002_01",
"case_text": "A 74-year-old man, in complete remission of a chronic lymphoid leukemia (CLL) after 6 cycles of rituximab and bendamustin (last therapy administrated in December 2019), presented to our emergency unit on April 1st 2020 with asthenia, loss of weight, dry cough and diarrhea since a month. He was otherwise healthy with well-controlled arterial hypertension and type 2 diabetes mellitus. SARS-CoV-2 RNA was detected (7x106 copies/ml) from a nasopharyngeal swab (defined as day 1). Laboratory analyses showed a moderate neutropenia, but severe T (114 cell/mm3) and B (1 cell/mm3) lymphopenia with reduced total immunoglobulin (Ig) G and IgM levels (Supplementary Figure 1A), while inflammatory markers (C-reactive protein and ferritin) were elevated (Figure 1A). Chest computed tomography (CT) revealed bilateral multifocal subpleural and peribronchial ground-glass opacities typical of COVID-19 pneumonia (Figure 1B and Supplementary Figure 2). The clinical condition gradually deteriorated with sub-febrile episodes, persisting dry cough and diarrhea, and progressive weight loss and cognitive dysfunction (Figures 1C, D and Supplementary Information). Inflammatory parameters and blood cell counts remained abnormal (Figures 1A, E), while persisting SARS-CoV-2 infection was confirmed (Supplementary Figure 1B). Complementary investigations excluded other diagnoses (Supplementary Information). No specific antiviral agents were introduced given the mild symptoms of COVID-19 (e.g. absence of hypoxemia).\nIn summary, the patient developed a long-lasting SARS-CoV-2 infection likely related to his severe immunosuppressive status. Consequently, we hypothesized that convalescent plasma could be beneficial in this particular case, by providing virus-specific neutralizing antibodies as well as a potential anti-inflammatory effect. Plasma units (3x200 ml/donor) were obtained from three selected donors, who had fully recovered from mild COVID-19 disease (Supplementary Information). Each donor presented relatively high IgG antibody titers against the S1 (spike)-protein using Euroimmun ELISA (Supplementary Figure 3A). The first cycle of ABO-compatible plasma transfusion (two units on two consecutive days) was given on days 72 and 73 after diagnosis of SARS-CoV-2 infection, followed by three additional cycles, administered 10 to 15 days apart (Supplementary Figure 3A).",
"gender": "Male"
}
] |
PMC8097002
|
[
{
"age": 31,
"case_id": "PMC6744724_01",
"case_text": "A 31-year-old female presented with orthostatic headache and neck pain, exacerbated by standing. The magnetic resonance imaging showed diffuse pachymeningeal enhancement. The CT myelogram revealed a CSF leak at C7-T1 level [Figures 1 and 2]. The target level of the EBP was set to C7-T1. With the patient prone, using CB-CT, the targeted spinal cord level was confirmed. The trajectory for insertion of the epidural needle was documented on reconstructed CB-CT sagittal images. The distance from the entry point on the skin to the spinolaminar line was measured and the epidural needle was advanced up to 10 mm behind the spinolaminar line [Figures 3 and 4]. Once the inner needle was removed, the outer cannula, attached to a syringe filled with saline, was slowly advanced until one could feel a \"loss of resistance\" (e.g., within the epidural space, about 4 mm behind the spinolaminar line). The needle position was then confirmed with biplane epidurography (i.e., documenting the spread of contrast dye evenly and symmetrically) [Figure 5]. Next, about 20 cc of autologous blood was gradually injected through the needle. The patient's symptoms of SIH progressively and rapidly improved. Fourteen months later, the patient was asymptomatic.",
"gender": "Female"
}
] |
PMC6744724
|
[
{
"age": 28,
"case_id": "PMC9845397_01",
"case_text": "Case 1 is a 28-year-old woman with HoFH receiving low-dose lomitapide combined with apheresis for 8 years. Her initial complaints started with chest pain at 8 years of age. She had undergone coronary artery bypass grafting (CABG) due to severe three-vessel coronary artery disease (CAD) at 10 years of age, when she was diagnosed with HoFH with an untreated LDL-cholesterol level ranging between 490 and 549 mg/dl. Her family history was remarkable for early-onset CAD and high cholesterol levels. She had received weekly or biweekly LDL-apheresis therapy since 10 years of age. As her LDL-cholesterol levels were far from the treatment goals, oral lomitapide 5 mg/dl was introduced on top of atorvastatin (80 mg/day) and ezetimibe (10 mg/day) at 20 years of age. The dose was titrated up to 20 mg/dl and has been maintained without adverse events. An additional 31% LDL-cholesterol reduction was observed in the first month of low-dose lomitapide (5 mg/day) therapy. At a dose of 20 mg/day, the LDL-cholesterol reduction reached 49% at the end of 6 months. As she declined to be weaned off apheresis, we reduced the apheresis frequency and she received low-dose lomitapide (20 mg/day) plus concomitant bimonthly apheresis. However, during the pandemic for 1 year, she could not access apheresis. Throughout the 8-year lomitapide treatment, she did not experience any increase in serum liver enzyme levels, weight loss, or liver steatosis. Moreover, no change was observed in hepatic fibro scans. She followed a fat-restricted diet compatible with lomitapide therapy to prevent steatorrhea, with concomitant supplementation of fat-soluble vitamins and essential fatty acids. Since the commencement of lomitapide therapy, the patient has remained stable at functional class (NYHA-I) without any adverse cardiovascular events.\nImaging work-up at diagnosis revealed mild aortic stenosis [aortic peak gradient (AoPG) of 30 mmHg-mean (AoMG) 23-18 mmHg] and mild aortic regurgitation with a normal ejection fraction (EF). During the 8-year follow-up, the AoMG was stable at around 25-30 mmHg. In 2022, cardiac catheterization revealed an AoPG of 30 mmHg with normal EF. The computed tomography (CT) angiography showed almost identical coronary and aortal involvement between the baseline (2013) and follow-up (2022) images (Figure 2A). These findings were confirmed by coronary angiography in 2022. Similarly, both the Achilles tendon thickness (ATT) on ultrasonography and carotid intima-media thickness (IMT) significantly decreased with lomitapide treatment. Moreover, the minor soft plaque at the orifice of the right carotid artery became calcified with no progression with lomitapide therapy.",
"gender": "Female"
},
{
"age": 33,
"case_id": "PMC9845397_02",
"case_text": "Case 2 is a 33-year-old man with a remarkable history related to HoFH. His first symptoms were xanthomas on his ankles and xanthelasma which appeared at 3 years of age. However, he was not diagnosed with HoFH until 20 years of age. He has presented with exertional angina and angiographically extensive ostial coronary stenotic lesions and had undergone CABG accompanied by aortic root dilation at 20 years of age. One year later, he was referred to our lipid clinic for extremely high LDL-cholesterol levels ranging between 420 and 540 mg/dl. Xanthomas were apparent on his elbows, knees, and ankles. He was already prescribed rosuvastatin (40 mg/day) and ezetimibe treatment, and we introduced LDL-apheresis. He lived a 14-h drive from our center; therefore, he receive monthly apheresis. As his LDL-cholesterol levels were still >200 mg/dl post-apheresis, we introduced lomitapide in June 2014, when he was 25 years of age. At the initial dose of oral 5 mg/day, mild nausea was observed. With the up-titrated dose of 20 mg/day, his nausea did not increase; however, after 6 months, he declined to take his pills as he experienced an 8 kg weight loss. For the next 3 years, he continued monthly apheresis but no lomitapide. We re-introduced lomitapide in November 2017 due to persistent LDL-cholesterol levels >500 mg/dl. However, this time he was compliant with the low-fat diet and lomitapide. He did not experience any adverse symptoms or weight loss with an up-titrated dose to 40 mg/day. No alteration was observed in transaminase levels, and a recent hepatic fibroscan was normal. We observed an additional 27% LDL-cholesterol reduction for a 5 mg daily dose of lomitapide at the end of the first month, which increased to 49% at the end of 6 months at a dose of 20 mg daily. The patient has been taking the current dose of lomitapide (40 mg/day) for almost 5 years and concomitant apheresis (every 2-3 months). During the pandemic, his access to apheresis was disturbed for 1 year; however, he maintained his lomitapide therapy. He also received supplementation with omega 3-6-9 and vitamin E. However, he reported several times reasons other than adverse effects for not being adherent to lomitapide therapy. During the follow-up, his coronary lesions and aortic stenosis progressed, and he underwent aortic valve replacement (Benthal operation), carotid endarterectomy, and repeated CABG in 2021. Figure 2B depicts the comparison of 2014 and 2019-DeltaDeltaCT angiograms showing significant progression of calcifications in the aortic root.\nAccording to the sequencing results, Case 1 was heterozygous for LDLR [c.664T>C, (p.Cys222Arg)], while Case 2 was homozygous for LDLR [c.1760dupG, (p.Ser587ArgfsTer16)]. No clinically significant mutation was found in the APOB, PCSK9, and LDLRAP1 regions in both patients. Additionally, 16 different MTTP variants were detected in the two patients. Cases 1 and 2 shared 2 MTTP variants (rs3816873 and rs1061271). Case 2 also showed one mutation (c.*450A>G) with uncertain clinical significance in public databases, while Case 1 showed 13 mutations (rs11944749, rs17029189, rs11944752, rs17029213, rs17029215, rs2306985, rs2718684 rs34734558, rs41275719, rs7667001, rs881981, rs982424, and rs991811) in MTTP. Twelve of these 13 mutations were categorized as benign/likely benign in public databases; only MTTP c.3G>A (rs11944752) was associated with elevated plasma glucose, insulin (MAGIC Consortium HGVM 4589669), and cholesterol levels.",
"gender": "Male"
}
] |
PMC9845397
|
[
{
"age": 55,
"case_id": "PMC4708069_01",
"case_text": "A 55-year-old man without any previous comorbidity was admitted to the intensive care unit in Ravenna after a motorcycle accident, in which he experienced sternal and humeral lesions and D4 and D9 vertebral fractures. A hypertensive pneumothorax and a Glasgow Coma Score of 14/15 were also present, accompanied by intracapsular spleen haematoma with multiple fractures of the pelvis. Five days later, empirical therapy with ceftazidime and gentamicin was administered for 18 days. Four days after that, an abrupt onset of fever (temperature >38.5 C) accompanied by clinical features of septic shock appeared (with severe leucocytosis and low platelet count), and the patient was provided vasoactive amines with mechanical ventilation. No hemodialytic treatment was applied. A monolateral purulent pleural suffusion was also present on the right, as demonstrated by tomography, and thoracic drainage was applied, with copious purulent leakage.\nTwo sets of blood samples were taken for culture via a central arterial catheter as a result of the poor condition of peripheral veins. After 82 hours of incubation (Virtuo system; bioMerieux, Marcy l'Etoile, France), one bottle (anaerobic) showed growth of pleomorphic Gram-positive microorganisms. Identification by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF), performed following standard and rapid procedures, failed several times because no spectra matched with the isolate. Identification was achieved by 16S rRNA PCR amplification and sequencing. BLAST analysis (http://blast.ncbi.nlm.nih.gov) showed 100% identity with C. hongkongensis (strain HKU16, accession no. 115269.1). The metabolic profile was evaluated by API20A (bioMerieux), showing a similar pattern to already published data. The antimicrobial susceptibility testing was performed by Etest and interpreted following European Committee on Antimicrobial Susceptibility Testing criteria (http://www.eucast.org/clinical_breakpoints/). This was hampered by the slow and difficult growth of the isolate, which took over 10 days. The AST results are summarized in Table 1. After 2 weeks, empirical treatment with vancomycin and meropenem was discontinued, and the patient recovered from sepsis.",
"gender": "Male"
}
] |
PMC4708069
|
[
{
"age": 28,
"case_id": "PMC4900306_01",
"case_text": "A 28-year-old female patient presented with a history of breathlessness on exertion and palpitation for 6 years. On examination, there was pansystolic murmur in the precordium. Her electrocardiogram was normal, and chest X-ray showed no cardiomegaly. Transthoracic echocardiography (TTE) revealed bileaflet prolapse with non-coaptation and posteriorly directed eccentric jet. Left atrium was dilated. Both the ventricles were normal in size and function. She was posted for mitral valve replacement. Intraoperative transesophageal echocardiogram (TEE) confirmed preoperative findings. There was a band like structure seen in the midcavity of left ventricle connecting the two walls (Figure: 1, Video: 1). Mitral valve replacement with 27ATS valve and false tendon (FT) excision was done under cardiopulmonary bypass with moderate hypothermic cardioplegic arrest. However, postoperative TTE showed that the midcavity FT was still intact (Figure: 3). Retrospective interpretation of intra operative TEE images showed the presence of two false tendons. Along with first FT in LV mid-cavity (Figure: 1, Video: 1), a second FT was faintly seen below the mitral valve (Figure: 2, Video: 2) coursing towards the left ventricular outlet. Only the second FT was excised by the surgeon. The patient recovered from the surgery uneventfully.\nFalse tendons are benign anatomic variants present in 40% of people. When LVFTs are oriented perpendicular to the flow of blood, they vibrate like the strings of an Aeolian harp. These vibrations are seen as fine fibrillations on M-mode images [Figure 3]. Patients with LVFTs are said to have violin heart as they frequently have musical systolic murmurs on precordial examination. Echocardiographically LVFTs can be differentiated from LV thrombus, LV hypertrophy, hypertrophic cardiomyopathy and trabeculations by the presence of echo-free space on both sides of the tendons. LVFTs have systolic laxity and become taut during diastole. LVFT may be cut by the surgeon as in our case or may rupture spontaneously or after an myocardial infarction, after percutaneous trans luminal mitral commissurotomy. Ruptured LVFT must be differentiated from ruptured chordae, vegetations or thrombi.\nThe presence of LVFT carries both merits and demerits. Its presence can prevent left ventricular (LV) remodeling. However it may be a causative factor in the development of discrete subaortic stenosis (DSS)\nLeft ventricular false tendons were first described by Sir Turner, a British anatomist and surgeon who proposed that they retard LV enlargement. In dilated cardiomyopathy or after myocardial infarction, LV dilates due to remodelling. Dilated ventricle increases wall stress and leads to LV failure. Increased wall stress also increases metalloproteinase activity that degrades myocardial extracellular matrix causing further LV dilatation. Transverse midcavity LVFTs absorb the distorting forces resulting in less remodelling, less mitral annular dilatation and LVEDD. In patients with dilated cardiomyopathy, Coapsys device (Myocor, inc) is utilized to reduce the LV wall stress. It is a flexible cord that is attached to the LV walls by epicardial pads and contains a cord that traverses the LV cavity anteroposteriorly. It is considered as a prosthetic false tendon. LVFT produces atrial natriuretic peptide(ANP) similar to left atrium when LV filling pressure are increased which promotes natriuresis, diuresis and vasodilatation resulting in reduced LV wall stress. ANP also retards LV remodelling by inhibiting endothelins, angiotensin-II and aldosterone, all of which promote cardiac fibrosis and remodelling. LVFT also produces ANP.\nDilated and ischemic cardiomyopathy cause functional mitral regurgitation (FMR) by LV remodelling. The papillary muscles are displaced away from the mitral annulus as measured by tenting height and area. Incomplete mitral coaptation occurs due to the traction on the chordae tendinae. Coaptation device or surgical struts help to preserve the subvalvular anatomy and reduce the degree of FMR. In a study conducted by Bhatt et al., transversely oriented LVFTs were found to produce less FMR by having less coaptation depth and area.\nLeft ventricular false tendons may contain Purkinje fibres, which have a gating mechanism that may inhibit or promote re-entry from ventricular tachycardia. In patients with dilated ventricles, conduction of the electrical impulse through LVFTs may produce a more homogenous LV depolarization similar to biventricular pacing and improve LV dP/dt.\nThe presence of LVFTs in patients with DSS may add to the flow turbulence across the LVOT. Some surgeons excise LVFTs during DSS excision.\nIn our patient, there were two false tendons, one was traversing LVOT and it was excised by the surgeon. The transverse midcavity tendon was left intact, which may protect the patient from future possibility of FMR. People with LVFTs may be at evolutionary advantage due to reduced LV remodelling after MI and reduced the degree of FMR.",
"gender": "Female"
}
] |
PMC4900306
|
[
{
"age": 27,
"case_id": "PMC4367057_01",
"case_text": "A 27-year-old unbooked G3P1L1A1 at 39 weeks 5 days of gestational age with previous one live vaginal birth and one first trimester spontaneous abortion was admitted in the labor room with pain in the abdomen. She had no history of prior antenatal care and belonged to a tribal community with lower socioeconomic status. There was history of tobacco use both before and during pregnancy. She was otherwise healthy with no known history of genetic or congenital anomaly in her family.\nOn examination, she was observed to be in the second stage of labor with cephalic presentation and regular fetal heart rate. She delivered a term 2.5 kg baby with multiple congenital anomalies. The Apgar score was 3 at 1' and 0 at 5 min. The baby died within 30 min postbirth in spite of resuscitation attempts by neonatologist. On physical examination, the infant showed narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery [Figure 1]. There were also prominent epicanthal folds, hypertelorism, downward curved nose, receding chin, low-set soft dysplastic ears and small slit-like mouth suggestive of Potter's facies [Figure 2]. Autopsy was declined by the parents. Intrapartum and the postpartum period of mother was uneventful.",
"gender": "Female"
},
{
"age": 34,
"case_id": "PMC4367057_02",
"case_text": "A preterm baby weighing 1.6 kg was delivered vaginally at 34 weeks gestation by a 23-year-old primigravida with an unsupervised pregnancy. Postpartum investigation revealed the presence of diabetes mellitus. There was no history of drug intake and radiation exposure. The Apgar score was 3 at 1' and same at 5 min following which the baby was shifted to neonatal intensive care unit, but died 12 h postbirth due to severe respiratory distress. There was very scanty amniotic fluid drained at the time of delivery. The new born baby had gross anomalies like narrow chest indicating lung hypoplasia, fused both lower limbs and feet with 10 toes, absence of external genitalia, imperforate anus and single umbilical artery [Figures 3 and 4]. Examination of the fused lower limbs showed the presence of all thigh and leg bones thus classifying our patient as Type I of Stocker and Heifetz classification. The infant also had features of Potter's facies including prominent infraorbital folds, small slit-like mouth, receding chin, downward curved nose, and low-set ears. Ultrasonography revealed bilateral renal agenesis. On autopsy, there was an absence of both kidneys, ureters, urinary bladder, seminal vesicle, and urethra. The gastrointestinal system ended in a blind loop at the rectosigmoid area and was filled with meconium. Two pea sized gonads suggestive of testes were seen bilaterally posterior to pubis. Right pneumothorax with collapsed right lung was evident. Examination of brain, heart, liver, adrenal glands, and pancreas revealed normal anatomy.",
"gender": "Unknown"
}
] |
PMC4367057
|
[
{
"age": 39,
"case_id": "PMC4341321_01",
"case_text": "Mr. A 39-yr-old male was brought to our OPD with 4 weeks history of talking excessively even to unfamiliar people, being irritable to others, overspending, singing, dancing and reduced need for sleep. There was family history of bipolar disorder in a first degree relative.\nOn exploration it was reported that he had a manic episode with psychotic symptoms 15 years back and was on lithium prophylaxis till 5 years ago. Four months ago, the patient consulted a psychiatrist with history of excessive sadness, inability to sleep, easy fatiquability, anhedonia, not being able to carry out his job and reduced libido, and was diagnosed to have moderate depressive episode and was restarted on lithium 900 mg/day. Two months ago, as patient did not improve on lithium monotherapy with serum lithium level of 0.7 Meq/litre, opipramol 50 mg/day was added along with lithium. And after 1 month on opipramol treatment patient was brought to us with the current symptoms. Patient's investigations showed serum lithium level of 0.7 mEq/litre and thyroid function was normal. On mental status examination, he was found to be intrusive and overtalkative with euphoric mood. Patient was diagnosed as a case of bipolar affective disorder, current episode being treatment emergent manic switch due to opipramol as per the International Society for Bipolar Disorders (ISBD) criteria and patient was admitted.\nOpipramol was stopped and patient was continued on lithium 900 mg/day and risperidone titrated up to 4 mg/day. His manic symptoms started resolving by second week and remitted by fourth week and the patient was discharged. The total manic score on Young's mania rating scale was 39 at the time of admission and it dropped to 28, 17 and 6 at the end of first, second and fourth week of treatment, respectively.",
"gender": "Male"
}
] |
PMC4341321
|
[
{
"age": null,
"case_id": "PMC8267556_01",
"case_text": "A Japanese boy with healthy non-consanguineous parents was delivered at 39 wk of gestation by emergency cesarean section due to arrest of labor. No fetal distress was observed. The birth height and weight of the newborn were 53.5 cm [+ 2.59 standard deviation (SD)] and 4762 g (+ 4.25 SD) with an Apgar score of 9/10. At 1 h of life, hypoglycemia (11 mg/dL) was detected without symptoms. Despite the initiation of intravenous dextrose, the neonate had persistent hypoglycemia.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8267556_02",
"case_text": "The boy was transferred to our neonatal intensive care unit on the first day of life and managed with intravenous dextrose at a glucose infusion ratio (GIR) of 4-6 mg/kg/min. After initial treatment, he experienced recurrent hypoglycemia and required higher GIR (maximum 12.5 mg/kg/min) to maintain euglycemia. A diagnosis of hyperinsulinemic hypoglycemia was made based on critical samples at the time of hypoglycemia on the first day of life (Table 1) in accordance with the clinical practice guidelines for congenital hyperinsulinism of The Japanese Society for Pediatric Endocrinology. Diazoxide treatment was initiated at 8 mg/kg/d on the first day of life. His blood glucose levels gradually stabilized; therefore, glucose infusion and diazoxide dosage were gradually decreased on day 10 and then weaned off on the 20th day of life. Blood glucose levels remained at 60-70 mg/dL without diazoxide, and he was discharged on the 20th day of life. During hospitalization, there were no findings suggestive of cholestasis. He was treated with phototherapy for jaundice on day 7, which was subsequently resolved. There were no special findings on the physical examination. Genetic testing for congenital hyperinsulinism was performed after obtaining informed consent, wherein all coding exons of ABCC8 and KCNJ11 were amplified by polymerase chain reaction and directly sequenced. The results revealed no pathogenic sequences.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8267556_03",
"case_text": "The child experienced recurrent hypoglycemia at 3 mo of age. Blood test results were as follows: blood glucose, 47 mg/dL; insulin, 2.1 microIU/mL; IGF-1, 16 ng/mL; TSH, 0.743 microIU/mL; free T3, 3.39 pg/mL; and free T4, 1.36 ng/dL. Diazoxide treatment was initiated. The patient was not hypoglycemic, especially during the morning fasting. Convulsion and disturbance of consciousness were not observed. However, hypoglycemia occurred particularly when the patient remained fasting in the morning. Even after restarting diazoxide, the patient was inactive in the morning and blood glucose levels were unstable. Therefore, diazoxide was increased to 15 mg/kg/d. Cornstarch and frequent meals were started as a medical nutrition therapy. Despite the introduction of these treatments, hyperinsulinemic hypoglycemia persisted. We suspected the possibility of syndromic persistent hyperinsulinemic hypoglycemia and consulted a medical geneticist for additional genetic analysis. Peripheral blood samples were collected, and DNA was extracted. Array comparative genome hybridization (CGH) was performed after obtaining informed consent using the SurePrint G3 Human CGH 4 x 180 K Microarray kit (Agilent Technologies, Santa Clara, CA, USA) according to the manufacturer's instructions. The data were analyzed using the Agilent Cytogenomics software (ver 2.9) and the UCSC genome browser (http://genome.ucsc.edu). Chromosomal microarray analysis revealed a 2.48-Mb deletion of chromosome 20p11.23-p11.21, which encompassed FOXA2 (Fig. 1).\nA combined pituitary stimulation test was performed to evaluate pituitary function at 1 yr 8 mo because his growth rate declined after 11 mo of age, and hypopituitarism with deletion of chromosome 20p11 has been reported. GH stimulation tests revealed severe GHD (Table 2). Magnetic resonance imaging of the brain revealed an ectopic posterior pituitary and pituitary stalk interruption (Fig. 2). Based on these results, GH replacement therapy was initiated at 0.175 mg/kg/wk. At this time, his physical appearance was characterized by a broad forehead and saddle nose that were not clear at birth. After GH replacement therapy, blood glucose levels were approximately 70 mg/dL in the morning fasting period, and his previously noted inactivity resolved.",
"gender": "Male"
},
{
"age": null,
"case_id": "PMC8267556_04",
"case_text": "At 6 yr and 4 mo of age, diazoxide was decreased to 5 mg/kg/d (previously, the maximum dosage was 15 mg/kg/d). The patient exhibited no side effects owing to the treatment. A combined pituitary stimulation test has been performed each year, and no central hypothyroidism or central adrenal dysfunction has been revealed. His developmental stage was age-equivalent and normal. Informed consent for publication of this case was obtained from the patient's mother because the patient was underaged.",
"gender": "Male"
}
] |
PMC8267556
|
[
{
"age": 41,
"case_id": "PMC8184239_01",
"case_text": "A 41-year-old Indonesian male came to our outpatient clinic due to swelling in fingers and toes for the last nine months. He had limitations in activities of daily living. There was no history of shortening of the digits and joint stiffness in the mornings. Upon physical examination, the patient had leonine facies and madarosis. Hypesthetic hypopigmented macules were found on the right side of the back. (Figure 1) Sensory nerves examination revealed glove and stocking hypesthesia. Fingers and toes were swollen, without redness, warmth, and tenderness on the overlying skin. (Figure 2A) The range of motion was limited in the proximal and distal interphalangeal joints of the fingers. Claw fingers, drop wrist, muscle atrophy, or contracture of the hands was not detected. Claw toes, drop foot, muscle atrophy, or contracture of the feet was not found. A slit-skin smear showed a bacterial index of 4.38+ (Figure 3) and a morphological index of 79%. We referred the patient to the Department of Orthopedic and Traumatology to perform synovial fluid aspiration from the interphalangeal joint of the hand (Figure 4A). Acid-fast staining of synovial fluid from the interphalangeal joint of the hand revealed numerous acid-fast bacilli (Figure 4B). Histopathological examination on a hypesthetic macule from the back showed epidermal atrophy with Grenz zone. The dermis was minimally infiltrated with lymphocytes and foamy histiocytes, which confirmed the diagnosis of lepromatous leprosy. Radiographic features showed osteolysis and destruction of some phalanges of the hands, bone erosion and destruction of some phalanges of the feet, as well as destruction and subluxation of some hand joints (Figure 2B). These bone changes were concluded as osteomyelitis. The final diagnosis was lepromatous leprosy, osteomyelitis and chronic arthritis due to leprosy, with hand and foot deformities. The patient received multidrug therapy (MDT) for multibacillary (MB) leprosy. Improvements in swollen fingers and toes were observed within two months after the start of treatment. The patient could move hands more freely to do daily activities. There were no changes on skin lesions.",
"gender": "Male"
}
] |
PMC8184239
|
[
{
"age": 25,
"case_id": "PMC4330689_01",
"case_text": "A 25-year-old man presented with a history of recurrent UTI. He had undergoing augmentation ileocystoplasty with cutaneous diversion by Mitrofanoff principle for pelvic fracture distraction urethral defect and rectourethral fistula following road traffic accident ten years ago. His physical examination, including per rectal examination, revealed normal findings. The routine investigations were done and revealed normal hemoglobin level, total leukocyte count of 11 x 109/L, and normal findings on renal function tests (serum creatinine, 97.24 mumol/L; and urea 8.93 mmol/L). Further imaging studies such as ultrasonography, X-ray, and computed tomography of abdomen and pelvic showed the massive stone burden in urinary bladder (Figure 1). The urine macroscopic and microscopic examination showed presence of pus cells with white blood cells. The culture and sensitivity report of urinary sample showed growth of Escherichia coli that was highly sensitive to amikacin, gentamicin, cefoperazone, ceftriaxone, imipenem, and ciprofloxacin.\nPatient was planned for elective surgery after treating the urinary sepsis. He underwent open cystolithotomy under general anesthesia and a total of 42 stones, weighing 1400 g, were removed. Stone were sent for chemical analysis and they turned out to be of struvite type (Figure 2). Postoperative period was uneventful and he was discharged under satisfactory condition. He was followed up on outpatient department basis and was doing well.",
"gender": "Male"
}
] |
PMC4330689
|
[
{
"age": 60,
"case_id": "PMC7876995_01",
"case_text": "A 60 years-old Caucasian male came to emergency room with diffuse abdominal pain, leukocytosis on blood tests (WBC 19 x 103/mmc) and increased C-reactive protein (120 mg/L). The patient suffered from hypertension and he had a medical history of previous appendectomy and repair of umbilical hernia. Family history was negative for other diseases. He underwent an urgent contrast enhanced CT abdominal scan that showed a dilated stomach with hyperdense material of hematic nature in the lumen. At the level of the pyloric portion we found irregularly thickened walls associated with a small fluid collection and bubbles of free air (Fig. 1). These radiological and clinical findings appeared compatible with diagnosis of complicated peptic ulcer with covered perforation. Because of the worsening of the patient's clinical condition, we carried out an emergency surgery with distal gastrectomy for the large diameter and position of perforation. The procedure was performed by a young surgeon in urgent setting. We decided for a laparoscopic approach with pneumoperitoneum via trans-umbilical open Hasson technique. We used a 12-mm trocar in the left hypochondrium and other two 5-mm trocars respectively in the right flank and in xiphoid region. On exploratory laparoscopy we found a large perforation (about 5 cm of size) in the first duodenum portion (Fig. 2). We converted the procedure to open surgery in consideration of the extension and position of the lesion that did not allow us to continue safely in laparoscopy. We achieved a distal gastrectomy with Roux-en-Y side-to-side gastro-jejunostomy. The patients were satisfied with the treatment received, the postoperative course was uneventful and the patient was discharged on POD 7. The intraoperative findings appeared to be not unequivocal, configuring on the one hand the hypothesis of perforation on a large peptic ulcer or on a chronic pancreatitic process but we could not exclude the presence of a neoplasm by a gastro-duodenal origin. The histopathological examination described, 2 cm from the distal pyloric margin and in the context of the pyloric type mucosa, a centimetric neoformation with histological and immunophenotypic characteristics of well-differentiated neuroendocrine tumor (NET G.1 s. WHO 2019 classification, Synaptofisina + and Chromogranina +). In the adjacent mucosa we saw multiple erosion/ulceration phenomena, with bleeding spillage and vascular congestion. The gastric wall was all affected by outbreaks of chronic inflammation, sometimes in follicular aggregation and with fibrosis also extended to the subserosa. These aspects, in relation to the presence of a NET G1 and multiple erosive/ulcerative areas near the pyloric margin, were suggestive of a clinical picture of Zollinger Ellison syndrome.",
"gender": "Male"
}
] |
PMC7876995
|
[
{
"age": 49,
"case_id": "PMC5315209_01",
"case_text": "A 49-year-old, right-handed man visited our memory clinic in April 2013 with memory complaints, which were noticed in 2011 by the patient and his family members. His memory disturbances were gradually increasing, frequently making him lose his belongings without noticing and exhibiting severe memory loss. Other personality changes appeared, such as forgetting important promises to his friends, easily confusing the detailed \"must do-lists\" or difficulties in the calculations. Prominent naming impairment combined with hesitation to speak became apparent. Sometimes, he asked other people to repeat their conversations due to his failures in comprehending the talks. Geographic disorientations and visuospatial difficulties were also observed during driving with the family members.",
"gender": "Male"
},
{
"age": 14,
"case_id": "PMC5315209_02",
"case_text": "The patient was working as a physical education teacher in a middle school, and showed significant impairments and carried out inappropriate decision making and social functions. He could not manage his work as a teacher, for example, creating tests and making decisions at school. Impairments appeared in his daily life activities, such as mistakes in transferring money through telebanking. He presented abnormal behavioral symptoms with an obsessive personality, for example, being stingy with money and also did not allow anyone to spend his money without prior discussions and permission. Patient did not have any medical disease prior to his cognitive decline, and family history was unremarkable since neither his parents nor his siblings showed any cognitive impairment or dementia so far. However, his 14-year-old daughter was mentally handicapped (Figure 1).\nNeurologic examination did not reveal any focal or lateralizing neurologic deficit. Routine laboratory tests, including blood chemistry, electrolyte, and urine analyses, were normal. Serum Venereal Disease Research Laboratory (VDRL) results, including those for Treponema pallidum particle agglutination assay (TPHA), were negative. Thyroid function tests were normal, as with vitamin B12 and folic acid levels. The patient's apolipoprotein E (APOE) genotype was epsilon3/epsilon3. This patient was diagnosed according to the diagnostic criteria for \"probable AD\" by the National Institute of Neurological and Communicative Diseases and Stroke/Alzheimer's Disease and Related Disorder Association, which were ascertained by clinical features, neuropsycho-logical test, and brain magnetic resonance imaging (MRI) imaging with single-photon emission computed tomography (SPECT). Brain MRI revealed mild cortical atrophy without any ischemic change or other lesions (Figure 2A). Brain SPECT showed moderate hypoperfusion in the frontal, limbic, and temporal areas (Figure 2B). The reduced cerebral blood flow from the images of brain SPECT also supported the AD diagnosis.\nThe patient underwent comprehensive neuropsychological tests, and he scored 23 out of 30 (2 percentile) on the mini-mental state examination. The subscores for time orientation and seven-serial calculations were 4 out of 5 and 1 out of 5, respectively. The delayed word recall score was 1 out of 3, and he scored 1 out of 3 in the task of clock drawing (Figure 3). His score fell in the abnormal range on the attention task of backward digit span (2.5 percentile). Significant impairment appeared in his confrontation naming ability (<0.01 percentile). Performances in copying the intersecting pentagon test and Rey-Osterrieth Complex Figure test were normal, but his performances on clock drawing were severely impaired (5 percentile). On the Seoul verbal learning test, he was able to recall 13 items (0.02 percentile) in three consecutive immediate recall trials, but only 3 items (0.3 percentile) in the 20-minute delayed recall. Poor visual memory score of 10 out of 36 (1 percentile) was obtained in the delayed recall of the Rey-Osterrieth Complex Figure test. He showed abnormal performances in several tasks of frontal and executive functions, especially in the controlled oral word association test, Stroop test, and trail making test.\nPatient was diagnosed as probable EOAD, based on clinical assessment, detailed neuropsychological tests, and neuroimaging studies including brain MRI and SPECT.\nGenetic tests were performed in the patient to evaluate possible mutations. We were unable to make segregation analysis, since all family members and relatives refused the genetic test. The patient declined the genetic test for his children too. None of his family members presented any cognitive decline or dementia phenotypes, but they did not agree in releasing other family information. This patient was included in the Clinical Research Center for Dementia of South Korea study, which screened potential causative mutations in 100 patients with EOAD. Details of the clinical and scientific analyses of EOAD mutations in the Clinical Research Center for Dementia of South Korea study have not been included previously. A detailed clinical investigation of this patient with detailed personal interview, MRI, SPECT imaging data, and bioinformatic analyses are presented.\nVenous blood samples (5 mL) were collected from the patient with an ethylenediaminetetraacetic acid blood drawing tube. Blood sample was centrifuged at 1,500 x g for 5 min, followed by separation of white blood cells (buffy coat) for its storage at -80 C. DNA was purified using GeneAll Blood Protocol kit (GeneAll Biotechnology, Seoul, Korea), and purified DNA was kept at -20 C until the analysis.\nA polymerase chain reaction (PCR)-based analysis was performed using primers, as previously described. Targeted potential EOAD genes were as following: APP exons 16 and 17, PSEN1, and PSEN2. Since the diagnosis of EOAD is complicated due to the pathologic overlaps within diverse neurodegenerative disorders, this patient was also screened for progranulin (PGRN), microtubule-associated protein tau (MAPT), and prion (PRNP) genes.\nThe PCR products were purified using GeneAll Expin PCR kit (GeneAll Biotechnology). Single-strand conformation polymorphism was performed. Samples were mixed with formamide and incubated for 10 minutes at 95 C to generate single-stranded DNA bands. For separation, native polyacrylamide electrophoresis (BioRad, Seoul, Korea) was performed for 21 hours. SYBR Gold (Thermo Fisher Scientific, Waltham, MA, USA) staining was used to visualize the DNA bands.\nTo confirm the mutation, all PCR products were sequenced with the same primer sets in both directions by BioNeer Inc. (Dajeon, Korea). Before sequencing, we purified the PCR products by using GeneAll PCR kit (GeneAll Biotechnology). Big Dye Terminator Cyclic sequencing was performed with the ABI 3730XL DNA Analyzer (http://eng.bioneer.com/home.aspx; BioNeer Inc.). Sequencing data were screened with DNA BASER (http://www.dnabaser.com) software. Sequence variants were identified by NCBI (http://www.ncbi.nlm.nih.gov/gene) and UniProt (http://www.uniprot.org) databases.\nMutations were analyzed by PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) online in silico prediction program, which predicted the pathogenic nature of missense mutations. PolyPhen-2 used homology search, multiple sequence alignment, profiling, identity-based scores, and structure-based search parameters (such as accessible surface area and hydrophobicity features). These predictions could define the putative role of missense variants and could predict whether they were probably/possibly damaging or benign. PolyPhen-2 also provided the multiple sequence alignment, which compared the homologous sequences from different organisms. Two types of datasets were used for the prediction: HumDiv and HumVar scores. HumDiv was used for testing the pathogenicty of rare alleles, where mildly damaging variants must be treated as possibly damaging. HumVar was used in case of Mendelian disorders, where more damaging alleles should be distinguished from the less damaging ones.\nWe also analyzed the mutation with SIFT algorithm (http://sift.jcvi.org/), which used several databases such as SWISS-PROT, SWISS-PROT/TrEMBL, and NCBI Protein Database. The software analyzed the possibility on the pathogenic properties of mutations by comparing the mutant and normal variants. SIFT scores of point mutation were calculated for weighting the mutations as possibly damaging allele or tolerated (nondamaging), with a dividing score of 0.05, respectively.\nProtein structure prediction analysis of PSEN2 was performed by Raptor X program at the University of Chicago (http://raptorx.uchicago.edu). Normal PSEN2 was composed of 488 amino acids, starting at 61 residues and continuing till residue 448. The prediction was performed at Raptor X web server for both normal PSEN2 and R62C mutation. Based on PSEN2 information from the UniProt database, R62C mutation belonged to the topological domain, positions 1-87, including the mutation site. Superimposed images were visualized by Discovery studio 3.5 software from Accelrys.",
"gender": "Male"
}
] |
PMC5315209
|
[
{
"age": 40,
"case_id": "PMC4711340_01",
"case_text": "Case 1 was a 40-year-old woman, and she underwent a mastectomy and sentinel node biopsy for left breast cancer. Immediately after the surgery, a tissue expander was implanted under the pectoralis major muscle for breast reconstruction. Prophylactic antibiotics (piperacillin, 4 g per day) were administered for 9 days following the surgery, until all drains were removed. On postoperative day 10, the patient presented with a fever of 39.3 C, a diffuse rash on her upper extremities, hypotension, and diarrhea (Fig 1). The site of operation showed no drainage or erythema. We first suspected that the patient's symptoms were due to a viral infection or allergic reaction. Her general condition worsened, and she was admitted to the intensive care unit.",
"gender": "Female"
},
{
"age": 54,
"case_id": "PMC4711340_02",
"case_text": "Case 2 was a 54-year-old woman, and she underwent a mastectomy and sentinel node biopsy for left breast cancer. Immediately after the surgery, a tissue expander was implanted under the pectoralis major muscle for breast reconstruction. Prophylactic antibiotics (cefazolin, 2 g per day) were administered for 7 days following the surgery, until all drains were removed. On postoperative day 8, the patient presented with a fever of 40.0 C, a diffuse rash on the upper part of her body, hypotension, and vomiting (Fig 2).",
"gender": "Female"
}
] |
PMC4711340
|
[
{
"age": 60,
"case_id": "PMC5097962_01",
"case_text": "A 60 year old man presented to our department with pain and swelling over lateral end of left clavicle (Fig. 1, Fig. 2). The selling was gradually increasing in size since past 4 months. On palpation the swelling was tender, lobulated and hard in consistency. The overlying skin was non adherent and freely mobile. The pain was insidious in onset, non radiating and had no diurnal variations and was aggravated on shoulder movements and relieved on taking medications. The local temperature was elevated and superficial veins were engorged. There was no regional lymphadenopathy and no neurovascular deficit in left upper limb. We got a plain radiograph which revealed which an expansile radiolucent lesion arising from lateral end of left clavicle (Fig. 3). The swelling demonstrated geographic type destruction without any soft tissue component or periosteal reaction. MRI was obtained which also suggested giant cell tumour (Fig. 4). To aid in the diagnosis fine needle aspiration cytology was done which revealed a predominantly cellular lesion having sheets of plump, oval mononuclear cells with mild pleomorphism. The cells had moderate cytoplasm, oval to elongated nucleus with moderate anisokaryocytosis with irregular nuclear membrane. Amongst these cells, many multinucleated giant cells were also which were distributed evenly. Storiform pattern was not seen. FNAC also diagnosed it as a giant cell tumour. The differential diagnosis which were kept in mind are aneurysmal bone cyst, non ossifying fibroma, eosinophilic granuloma and tuberculous osteomyelitis.\nSince the clavicle does not necessary require reconstruction and the patient was a retired school teacher, not engaged in any physical work so surgical resection of the tumor was planned. After proper investigations and pre anaesthetic clearance, a wide excision of the mass along with 3 cm of the healthy tissue was done (Fig. 5, Fig. 6). The excised mass was sent for histopathological examination which also confirmed it to be a giant cell tumor. No radiotherapy or chemotherapy was given post operatively. Wound healing was uneventful. A post operative x-ray was obtained (Fig. 7). The range of motion of the left shoulder was normal and post operatively there was no neurovascular deficict. The patient was happy with the surgical outcome and at 1 year follow up there was no evidence of recurrence or metastasis.",
"gender": "Male"
}
] |
PMC5097962
|
[
{
"age": 25,
"case_id": "PMC10368104_01",
"case_text": "A 25-year-old previously healthy man was admitted to a local hospital for progressive hypersomnolence preceded by 1 week of fever and 2 days of headache. General convulsions developed the next day after admission, therefore, he was transferred to our hospital. On examination, his body temperature was 38.6 C, blood pressure 143/94 mm Hg, and he was in a stuporous status with prominent nuchal rigidity and bilateral rales on chest auscultation. His chest X-ray showed patchy consolidation over the right lower lung zone (shown in Fig. 1). The initial brain MRI showed prominent leptomeningeal enhancement at bilateral brainstem, cerebellum, and right cerebral sulci (shown in Fig. 2a, b) and a non-enhanced oval shape lesion at the SCC with increased signals in diffusion-weighted imaging (DWI), low signals in apparent diffusion coefficient (ADC), and hyperintensity in T2-weighted fluid-attenuated inversion recovery (T2-FLAIR) (shown in Fig. 3a-d). The cerebrospinal fluid (CSF) analysis revealed turbid appearance, significantly high pressure (420 mmH2O), lymphocyte-predominant pleocytosis (white blood cells 148/muL, lymphocytes 95/muL), reduced glucose (43 mg/dL), and elevated protein (519 mg/dL). The biochemistry assay was all normal, including sodium, which was 136 mmol/L. The CSF pathogen studies were negative in bacteria, syphilis, fungus, tuberculosis, and virus via multiple polymerase chain reaction (FilmArray Meningitis/Encephalitis). The viral serology surveys including varicella zoster virus, herpes simplex virus, cytomegalovirus, and Japanese encephalitis virus were also negative. Serology detection for M. pneumoniae using rapid immunochromatographic test (Biocard M. penunoniae IgM kit, Labsystems Diagnostics, Finland) showed IgM positive at a titer of 1:320 (normal value <1:40) on the 2nd admission day, indicating an acute M. pneumoniae infection. Neither polymerase chain reaction analysis nor antibody detection of M. pneumoniae in the CSF was available in our hospital. He was treated with empirical antibiotics, antiviral agents, antiseizure medications, osmotic diuretics, and steroids. Resolution of the pneumonic patch was noted in the subsequent chest X-ray. The repeated CSF analysis 10 days later showed improvement, with a white cell count of 1/muL and a normal protein level at 13.2 mg/dL. However, his neurological condition deteriorated into a comatose state with full-dilated unreactive pupils, flaccid quadriplegia, and ventilator support. The follow-up MRI 3 weeks after admission revealed apparent regression of the leptomeningeal inflammation (shown in Fig. 2c, d), but emergence of symmetric confluent hyperintensities on T2-weighted fluid-attenuated inversion recovery images involving the whole corpus callosum, bilateral internal capsules, and adjacent subcortical areas were without enhancement (shown in Fig. 3e-g). The extensive and symmetric white matter changes on the MRI did not conform to the typical findings in ADEM. Moreover, a nerve conduction velocity study disclosed severe amplitude reduction of compound muscle action potentials and mild reduction in sensory action potentials, compatible with a critical-illness polyneuropathy. Under the presumption of extensive inflammation affecting the central nervous system, we tried immunotherapies with intravenous methylprednisolone pulse therapy and intravenous immunoglobulin successively. His pupil responses recovered rapidly 2 days after completing the immunotherapies, and the consciousness and brainstem reflexes improved gradually within 2 weeks. The ventilator-support was weaned off successfully. The follow-up MRI on the 44th and the 79th admission day displayed continuing regression of the cytotoxic change in the corpus callosum and the white matter (shown in Fig. 3h-m). Three months after admission, he was discharged to a rehabilitation institution with clear consciousness and paraplegia. Six months after discharge, he could speak, eat, and move his upper limbs without efforts but still continued his rehabilitation for the moderate paraparesis.",
"gender": "Male"
}
] |
PMC10368104
|
[
{
"age": 50,
"case_id": "PMC5726742_01",
"case_text": "A 50-year old male presented to the consulting clinics of a University Hospital with right flank pain since the last 2 months. Family history showed that the mother had bullous lung disease. Moreover about 10 years back the patient presented with complain of shortness of breath and was diagnosed with cystic lung disease and underwent video assisted thoracoscopy (VAT)/apical pleurectomy/pleurodosis. On examination his vitals were stable and systematic examination was unremarkable except there was decrease air entry in middle and lower zone bilaterally. His laboratory test showed anemia and raised C reactive protein. The Computed Tomography (CT) presented ill-defined infiltrating right infrahilar and lower pole renal lesion with a partly exophytic component along with multiple enlarged adjacent centrally located necrotic lymph nodes in the aortocaval and retrocaval locations (Fig. 1) and enlarged mediastinal lymph nodes. Moreover emphysematous changes in the lungs with patchy fibrotic changes and scattered nodularity was found representing sequel of old infection with typical cyst in the lungs bilaterally. A biopsy was performed on the right renal mass that indicated clear cell type renal cell carcinoma with significant lymphadenopathy. Histopathology showed multiple cores comprising of fibro collagenous tissue infiltrated by neoplastic lesion comprising of polygonal cells showing clear to eosinophilic cytoplasm and round to oval hyperchromatic nuclei. Focally, papillary like structure was noted. The lesion was surrounded by lymphocytic population. However, no definite lymphoid was observed. Special PAS stain highlighted abundant intracytoplasmic glycogen in the neoplastic cells. The CT and biopsy findings of renal cell carcinoma in combination with the past history of cystic lung disease and pneumothorax and a positive family history of bullous lung disease suggested Birt-Hogg-Dube (BHD) syndrome. The patient underwent right radical nephrectomy and lymph node dissection which was performed by the urologist. On discharge the patient was referred for chest physiotherapy as he had low lung compliance. Standard of care was given according to institutional policies and intervention according to EAU guideline Two months post- surgery the patient again presented with cough and chest X- ray revealed right pneumothorax. He was admitted for chest tube insertion and was treated for lower respiratory tract infection. His follow up CT three months following radical nephrectomy indicated disease recurrence (Fig. 2). He is being referred for consideration of systemic treatment.\nThe work has been reported in line with the SCARE criteria.",
"gender": "Male"
}
] |
PMC5726742
|
[
{
"age": 26,
"case_id": "PMC3757911_01",
"case_text": "A 26-year-old Caucasian male presented to our center with a 1-week history of severe colicky epigastric pain heralded by significant nausea for 3 weeks. He had approximately 20 episodes of bilious vomiting daily with numerous bouts of retching. He admitted to smoking 4 \"joints\" or marijuana cigars every day for the last 2 years, and denied alcohol and tobacco use. He had 4 similar episodes over the last 6 months. During these admissions, he was rehydrated and abdominal imaging revealed no abnormalities. His ongoing nausea was relieved by taking hot showers, of which he took up to 15 times per day, sometimes for more than an hour.\nHis vital signs were within normal limits and he was found to have mild epigastric tenderness with no peritonism. He was admitted for intravenous fluid rehydration and antiemetics.\nBlood investigation revealed no abnormalities with his complete blood count and renal and hepatic function. An abdominal computerized tomography (CT) scan revealed no abnormalities. An esophagogastroduodenoscopy and biopsy revealed mild gastritis negative for Helicobacter pylori. His symptoms initially remained refractory to morphine and antiemetics.\nOver the ensuing 48 hours, his symptoms improved and he was slowly weaned off medication. He had no access to marijuana.\nThe diagnosis of CHS was made and he was counseled on abstinence from marijuana. Though he refused to enter a substance abuse program, he remained cannabis-free and on follow-up at 1, 3 and 6 months revealed no recurrence in symptomatology.",
"gender": "Male"
}
] |
PMC3757911
|
[
{
"age": 71,
"case_id": "PMC4242899_01",
"case_text": "A 71 year-old woman had intermittent pyrexia (>38 C) for 1 week in May 2009. Her family doctor treated her with a course of antibiotics to no effect. Computed tomography (CT), cardiac ultrasonography, and tuberculosis skin test detected no abnormalities. General malaise gradually developed, and hemoglobin (Hb) level fell from 10.2 g/dL to 9.0 g/dL over 2 weeks. She was admitted to our hospital as a case of fever of unknown origin. On admission, pyrexia was the only abnormality on vital signs. She was taking no medications other than verapamil and digoxin for paroxysmal supraventricular tachycardia. Meticulous physical examination detected anemic conjunctivae and edema of the bilateral lower extremities. No skin lesions, palpable lymph nodes, or neurological abnormalities were evident. Laboratory findings showed anemia (Hb, 8.8 g/dL) and elevated levels of lactate dehydrogenase (454 IU/L) and soluble interleukin-2 receptor (sIL2-R, 6,030 U/mL). Commonly used autoantibodies and tumor markers for assessment of collagen diseases and cancers were all negative. CT scan revealed no lymphadenopathy, hepatosplenomegaly, or abnormal lung lesions. Gallium scintigraphy showed no abnormal accumulations. Brain magnetic resonance imaging (MRI) revealed a non-enhancing, high-intensity area of 17 mm in diameter in the pons on T2- and diffusion-weighted imaging (Figure 1A and B); however, no abnormal neurological signs were observed. Cerebrospinal fluid examination likewise found no abnormalities. Based on the high sIL2-R level, IVLBCL was suspected. A bone marrow biopsy showed a normocellular marrow with no apparent lymphoma cells. Genetic analysis of the bone marrow specimen showed no clonal rearrangement of T-cell receptor Cbeta1 or the immunoglobulin heavy chain JH region gene. We took healthy-appearing skin randomly from the forearm, lower abdomen, and thigh for biopsy although no skin lesions were observed. All specimens revealed large B lymphoma cells within small veins and capillaries of the subcutaneous fat tissues but not outside the vessels (Figure 2A and B). Immunohistochemical studies showed that lymphoma cells were positive for CD20 (Figure 3), a B-cell marker, and negative for CD3, a T-cell marker. Based on these findings, a diagnosis of IVLBCL was made. The patient's poor general condition required a less toxic regimen, thus conventional R-CHOP therapy, consisting of rituximab (375 mg/m2), cyclophosphamide (750 mg/m2), doxorubicin (50 mg/m2), vincristine (1.4 mg/m2), and prednisolone (60 mg/m2), was started within 1 month of initial symptoms. After the first lumbar puncture for spinal fluid examination, the patient did not accept repeating it due to its invasiveness. For this reason, we treated the patient without any intrathecal treatment. After the first cycle of systemic chemotherapy, the patient had resolution of fever and peripheral edema, as well as improvement in Hb, lactate dehydrogenase, and sIL2-R levels. After eight cycles of R-CHOP therapy, the pontine lesion had completely disappeared (Figure 4A and B). Therefore, the asymptomatic reversible pontine lesion was considered as IVLBCL involvement. During follow-up, the value of sIL2-R had been within reference range. Currently at 5 years after diagnosis, the patient has been doing well with no recurrence and returned to work without any neurological disorders.",
"gender": "Female"
}
] |
PMC4242899
|
[
{
"age": 64,
"case_id": "PMC4379640_01",
"case_text": "A 64-year-old female with multiple comorbidities of diabetes mellitus, hypertension, hypercholesterolemia, renal impairment, and rheumatic mitral valve disease; had recently undergone mitral valve and ascending aortic aneurysm repair electively, a month prior to her presentation. She presented to our emergency department in acute respiratory distress of a few hour's duration.\nHer preliminary clinical assessment revealed a distressed morbidly obese woman, unable to lie flat with a low oxygen saturation of 47% on room air. Her vital signs on presentation were: Temperature - 37.1 C; pulse - regular, 129 beat/min.; blood pressure (BP) - 130/88 mmHg; and respiratory rate - 35/min. Chest examination showed decreased air entry bilaterally with scattered crepitations and wheezes. Cardiovascular exam showed normal S1, S2 with mitral regurgitation murmur grade 4/6 heard loudest at left midclavicular fifth intercostals space radiating to the axilla. Jugular venous pressure (JVP) was distended. Her peripheries were edematous and cool, but good capillary refill. Abdominal examination was unremarkable. She had no focal neurological deficit.\nChest X-ray showed diffuse pulmonary congestion. Electrocardiogram (ECG) showed sinus tachycardia without significant changes. An urgent echocardiography revealed an echogenic mass attached to the posterior leaflet of the mitral valve measuring 2.3 cm x 1.3 cm [Figure 1] with a pulmonary artery pressure of 44 mmHg. The repaired mitral valve was seen in situ with a mean gradient of 12 mmHg with a mild mitral regurgitation. The estimated left ventricular ejection fraction was 60%.\nHer initial laboratory investigations showed a leukocyte of 26.5 x 109/L, hemoglobin (Hb) - 11.3 g/dl, erythrocyte sedimentation rate (ESR): 75 mm/h, international normalized ratio (INR) - 3.28, urea - 14.4 mmol/l, creatinine: 288 mmol/l, B-type natriuretic peptide (BNP) - 23,300 IU. Multiple sets of blood cultures were sent.\nThe patient was admitted for stabilization and initially managed conservatively as acute pulmonary edema secondary to acute prosthetic mitral valve thrombus. She was managed with antifailure medication and anticoagulation therapy with heparin.\nDespite therapy, her clinical condition deteriorated with compromising hemodynamics requiring inotropes. A subsequent echocardiography further showed a severe mitral regurgitation jet. A decision for an emergency redo sternotomy and mitral valve replacement was taken. Intraoperative transesophegeal echocardiography confirmed an echogenic mass on the prosthetic mitral valve with severe mitral regurgitation [Figure 2].\nDuring surgery, the mitral valve was covered by an apparent layer of fibrinous tissue and old thrombi. There was a large mass on the ventricular surface of the mitral valve [Figure 3]. The annuloplasty ring was dehisced from the posterior leaflet annulus. The mass extended all along the posterior leaflet and was infiltrating into the annulus to the ventricular septal free wall. The valve was not suitable for repair. Full debridement was done and the valve was replaced with a CE Magna ease tissue valve, size 27 mm. She was sent back to cardiovascular intensive care unit (CICU) in a stable condition on minimal inotropic support.\nIn CICU, empiric antimicrobial therapy (vancomycin and gentamycin) was initiated. A few days later, tissue valve culture report came back as Aspergillus fumigatus. Consequently, therapy was changed to intravenous voriconazole.\nShe had a protracted, prolonged postoperative period complicated with acute on chronic renal failure requiring renal replacement therapy and subsequent upper gastrointestinal bleeding that was treated conservatively with proton pump inhibitors and blood transfusions. She was discharged in reasonably good condition and doing well afterward.",
"gender": "Female"
}
] |
PMC4379640
|
[
{
"age": 29,
"case_id": "PMC4483173_01",
"case_text": "On 1 November 2013, a 29-year-old Japanese woman in the 34th week of her first pregnancy began to experience acute vision loss in both eyes, coupled with the appearance of metamorphopsia. She visited our hospital on the following day with bilateral blurred vision with meningismus. The patient's best corrected visual acuity (BCVA) was 0.5 in her right eye and 0.3 in her left eye. The patient had mild iridocyclitis in both eyes. Ophthalmoscopic examination revealed multi-focal serous retinal detachment (Figs. 1 and 2, day 2). The intraocular pressures were 18 mmHg (right eye) and 12 mmHg (left eye). B-scan ultrasonography was not performed, and choroidal thickness was unclear. The patient refused fluorescein angiography. Her blood pressure was 116/60. Based on these clinical findings and the revised criteria for diagnosis of VKH, she was diagnosed with incomplete VKH. We recommended the use of systemic high-dose corticosteroids for the treatment of VKH disease. However, the patient refused treatment because she was worried about adverse effects to the fetus. We therefore administered only topical ophthalmic betamethasone. Because she had rheumatoid arthritis, the patient had been receiving prednisolone 5 mg daily for the past 8 years. The patient had no history of any other medical disorders, including hypertension. She was a non-smoker and did not drink alcohol while pregnant. Her pregnancy had, up to this point, been uneventful. She underwent all routine laboratory and ultrasound tests, and the fetus had developed normally. Blood cortisol levels during pregnancy were not investigated.\nOn 12 November 2013, the patient returned, presenting with progressive vision loss in both eyes that had begun 4 days earlier. The patient's BCVA was 0.3 in her right eye and 0.2 in her left eye. Ophthalmic examination revealed bullous retinal detachment in both eyes (Figs. 1 and 2, day 12). Intraocular pressures were 10 mmHg (right eye) and 11 mmHg (left eye). However, she continued to refuse treatment. At a subsequent visit on 19 November 2013, she reported visual improvement in both eyes. Ophthalmic examination on that day revealed the disappearance of subretinal fluid from both eyes (Figs. 1 and 2, day 19). Her BCVA was 0.8 in her right eye and 0.9 in her left eye. Intraocular pressures were 19 mmHg (right eye) and 16 mmHg (left eye). On 27 November 2013, she delivered a healthy female baby (gestational age 37 weeks and 5 days, 2294 g) by spontaneous vaginal delivery. The baby's birth weight was low, but not small for her gestational age. A subsequent examination on 1 April 2014 revealed that the patient's BCVA was 1.0 in both eyes, and examination of her fundus revealed typical sunset glow fundus, without subretinal fluid (Figs. 1 and 2, day 152). Intraocular pressures were 14 mmHg (right eye) and 10 mmHg (left eye). She exhibited alopecia and poliosis. After reviewing all of the patient's clinical findings, we diagnosed her with complete VKH. On 11 May 2015, our final meeting with the patient, she did not exhibit any recurrence of VKH. The patient was still receiving 5 mg prednisolone daily for rheumatoid arthritis. Prior to and during her pregnancy, the patient's blood pressure stayed within normal limits, and she never exhibited hypertension.",
"gender": "Female"
}
] |
PMC4483173
|
[
{
"age": 63,
"case_id": "PMC3338239_01",
"case_text": "A 63-year-old gentleman was scheduled for repair of a 7 cm abdominal aortic aneurysm; his past medical history was significant for chronic hypertension and prolonged tobacco abuse. He had undergone femoral-popliteal bypass surgery just three months prior to this admission. His preoperative vital signs were essentially normal and physical examination was unremarkable. A twelve-lead electrocardiogram showed normal sinus rhythm with non-specific ST-T changes; echocardiography performed two days previously revealed normal-sized ventricles, mild anterior hypokinesis, with normal wall motion, and a left ventricular ejection fraction of 55%.\nA proposed plan of general endotracheal anesthesia, with invasive hemodynamic monitoring, was discussed with the patient; cell saver services, and four units of packed red cells, were made available for the surgery. After premedication with intravenous midazolam (2 mg), the patient was transferred to the operating suite; routine monitors revealed a baseline BP of 122 / 97 and normal sinus rhythm in the mid 60s. Following preoxygenation and induction with fentanyl (3 mcg / kg) and etomidate (0.2 mg / kg), endotracheal intubation was facilitated with cisatracurium (0.2 mg / kg); general anesthesia was maintained with oxygen : air (50 : 50), fentanyl, and isoflurane (0.4 - 0.8%).\nAfter left radial artery catheter placement, a 7-Fr percutaneous sheath was introduced via the right internal jugular vein. Using waveform analysis, a balloon-tipped, flow-directed PA catheter was then slowly advanced through the sheath. Right atrial tracing, followed by right ventricular waveform, were duly noted until the catheter tip reached 55 cm, when the EKG monitor suddenly demonstrated asystole; systolic BP decreased precipitously from 110 to < 50 mmHg, and the arterial waveform disappeared. The PA catheter was immediately deflated and withdrawn completely, without any improvement. Cardiopulmonary resuscitation was initiated with chest compressions and intravenous administration of epinephrine (1 mg) and atropine (1 mg). The patient responded to this management in two to three minutes, with a quick return to sinus tachycardia, with occasional premature ventricular contractions (PVCs) and ST-segment depression. An intraoperative cardiac consultation was obtained; the cardiologist recommended urgent cardiac catheterization and rescheduling of the surgical procedure.\nThe patient was transferred to the Intensive Care Unit, where he continued to do well, and was extubated later that evening. A coronary angiogram performed the following day showed no new pathology; he underwent open repair of the aortic aneurysm three days later without any further incident.",
"gender": "Male"
}
] |
PMC3338239
|
[
{
"age": 47,
"case_id": "PMC4782661_01",
"case_text": "White, 47-year-old male patient with prior systemic hypertension, had been taking captopril as daily medication. He was referred by the Neurology department because he had presented a clinical picture of anhidrosis over the right hemiface and hemithorax for 25 years, associated with diminished visual acuity in the left eye. Ten years ago it progressed with extension of the area with anhidrosis to the left hemibody and onset of hyperchromatic macule, intense hyperhidrosis involving the lower abdomen, lumbar region, flanks and right lower limb (Figure 1). The Minor's test was carried out to show profuse sudoresis contrasting with the anhidrotic areas (presence of blue color on places where there is sudoresis - Figure 2). Examination of the pupil revealed anisocoria, with the left pupil larger than the right one. At the physical examination no sensitive or motor neurological alterations were observed. The histopathologic test did not demonstrate significant difference in the quantity of sweat glands between the anhidrotic and hyperhidrotic areas, or in the population of melanocytes and melanosomes, revealing absence of pigment leakage.",
"gender": "Male"
}
] |
PMC4782661
|
[
{
"age": 84,
"case_id": "PMC7568180_01",
"case_text": "Case 1: An 84-year-old Caucasian man was diagnosed with T-LGLL in 2006. He was initially treated with cyclophosphamide and prednisone for cytopenia in 2007 with a durable hematologic response. However, he developed progressive dysphagia, mild dysarthria, and bilateral ptosis in July 2017, more than ten years after completion of the treatment for T-LGLL. Work-up showed elevated AChR binding antibodies level of 8.35 nmol/L (normal <0.4 nmol/L), AChR blocking antibody with 57% inhibitor (normal <26%), and AChR modulating antibody 88% binding inhibition (normal <45%). No antibodies to the muscle-specific kinase were found. Neither a Tensilon nor EMG was performed. A CT scan of thorax did not show thymoma or an enlarged thymus. Flow cytometry of both peripheral blood and bone marrow showed abnormal T-cell population co-expressing CD3+/CD8+/CD57+/ TCRab+ consistent with the diagnosis of T-LGLL. Clonality studies revealed positive TCR beta/gamma gene rearrangement. In addition to pyridostigmine 60mg TID, he was placed on prednisone 60mg TID for MG and then transitioned to cyclophosphamide 100 mg QD, with the resolution of his neurological symptoms. Follow-up evaluation in March 2019 revealed persistent low titer of AChR binding antibody level of 0.7 nmol/L, stable hematologic parameters and the absence of neurological symptoms.",
"gender": "Male"
},
{
"age": 64,
"case_id": "PMC7568180_02",
"case_text": "Case 2: A 64-year-old Caucasian male with a history of resolved right sided Bell's palsy twenty-four years previously, presented with a three-month history of dyspnea on exertion, dysphagia, fatigable dysarthria, and right fatigable ptosis. Initial labs showed severe anemia with a hemoglobin of 6.1g/dL and mild leukopenia. Dyspnea on exertion improved after a blood transfusion. Pulmonary function testing was not done. Peripheral flow cytometry revealed a small population of CD3+/CD57+/TCRab+ T cells. The clonal origin of cells was confirmed with positive TCR beta/gamma gene rearrangement studies. Subsequent bone marrow biopsy revealed infiltration of marrow with T- LGLL. Neurologic workup showed elevated AChR binding antibody level of 75 nmol/L (normal <0.3 nmol/L) without enlarged thymus on CT. A MRI brain was normal. Tensilon testing and EMGs were not done due to the rapid improvement of symptoms. He was initially treated with methotrexate and then oral cyclophosphamide 100 mg QD and prednisone 40mg QD. Six weeks later, his neurologic symptoms resolved. Three months later, his hemoglobin normalized. He completed six months of therapy with cyclophosphamide and prednisone. Subsequently, he was placed on mycophenolate mofetil per neurology without any recurrence for at least four years. Repeat MG panel testing after five months showed a low titer of AChR binding ab of 3.9 nmol/L, AChR blocking antibody with 37% inhibitors, and AChR modulating antibody 46% binding inhibition.",
"gender": "Male"
}
] |
PMC7568180
|
[
{
"age": 80,
"case_id": "PMC6691664_01",
"case_text": "This is a case report with literature review. Informed consent was obtained from the patient for publication. An 80-year-old gentleman was referred to our eye unit for assessment of bilateral cataract. His past medical history included type 2 diabetes and seropositive rheumatoid arthritis controlled by sulfasalazine. The corrected distance visual acuity (CDVA) was 20/25 in the right eye (OD) and 20/50 in the left eye (OS). Slit-lamp examination showed bilateral grade 3 nuclear sclerotic cataract (based on the Lens Opacities Classification System III) with no other ocular abnormality detected. He underwent an uneventful phacoemulsification with intraocular lens implant and was started on topical prednisolone 1% TID, ketorolac 0.5% TID and chloramphenicol 0.5% TID postoperatively. Topical ketorolac was started postoperatively to reduce the risk of macular oedema after cataract surgery in view of the history of diabetes.\nAfter 1 week, the patient presented to the eye emergency department with an acute left eye pain and hand movement vision. Slit-lamp examination showed a left inferior, noninfiltrated, crescentic corneal melt with epithelial defect, spanning 4-8 o'clock position (away from the temporal primary corneal incision), with a small Seidel-positive corneal perforation and flat anterior chamber. There was severe corneal punctate staining in the left eye and mild punctate staining in the right eye, suggestive of underlying DED. A left emergency corneal suturing and reformation of anterior chamber was performed. All postoperative drops, such as topical preservative-free sodium hyaluronate 0.2% Q2H, levofloxacin 0.5% Q2H and dexamethasone 0.1% BD, were discontinued. Oral prednisolone 40 mg was started in view of the possibility of peripheral ulcerative keratitis associated with the underlying seropositive rheumatoid arthritis. On the next day, there was a mild persistent leak at the perforated site, which warranted a corneal gluing using cyanoacrylate glue (Histoacryl; B. Braun Medical Ltd, Sheffield, UK) and insertion of a bandage contact lens (BCL). Bilateral lower lid punctal plugs were inserted. Blood tests, including the inflammatory markers, were all normal. The oral prednisolone was stopped after 2 days as there was no convincing evidence of vasculitis or peripheral ulcerative keratitis and the corneal melt was likely attributed to DED. No flare-up of rheumatoid arthritis was reported.\nAfter 1 week, the anterior chamber had successfully reformed. However, the corneal glue and BCL spontaneously dislodged after 2 weeks, resulting in a recurrent pinpoint corneal wound leak with iris plugging. He underwent a repeat corneal gluing and the eye stabilized within a week with a formed anterior chamber. CDVA was 20/50. The cornea successfully re-epithelialized under the glue 2 months later (Figure 1), and the BCL and glue were subsequently removed. The patient complained of ongoing grittiness and discomfort in the left eye. Slit-lamp examination showed mild meibomian gland dysfunction with right moderate and left severe inferior/central corneal punctate staining consistent with uncontrolled DED. The tear breakup time was 6 s, corneal sensation was normal and Schirmer's test (with topical anaesthesia) was 0 mm/5 min in both eyes. All the inflammatory and serologic markers for Sjogren's syndrome were negative, except for a moderately raised rheumatoid factor (53.1 IU/ml; normal: 0-14). Topical preservative-free sodium hyaluronate 0.2% Q2H, lacrilube nocte, cyclosporine 0.1% nocte and an 8-week tapering regime of prednisolone 0.5%, starting from QID, were given. Bilateral lower lid punctal plugs were re-inserted. Two years after cataract surgery, the DED had improved significantly, with the left eye remaining settled with an inferior corneal scar (Figure 2a and b) and a CDVA of 20/30 (-3.25/+3.75 x 70).",
"gender": "Male"
}
] |
PMC6691664
|
[
{
"age": 60,
"case_id": "PMC4276086_01",
"case_text": "A 60 year-old-man with a positive fecal occult blood test was diagnosed with early rectal cancer and underwent endoscopic mucosal resection at another hospital. Pathological findings showed well-differentiated adenocarcinoma with submucosal invasion(SM; 3500 mum), lymphatic infiltration (ly1), and no venous invasion (v0). A horizontal and vertical cut margin was negative (Fig. 1). According to the Japanese Society for Cancer of the Colon and Rectum (JSCCR) 2010 guidelines for the treatment of colorectal cancer, the patient underwent laparoscopic low anterior resection with D2 lymphadenectomy. Final pathological findings revealed no residual tumor cell in the rectum and one metastasis in regional lymph nodes (1/15).\nThe patient received postoperative adjuvant chemotherapy with uracil-tegafur (UFT) plus leucovorin for six months. Two years after radical rectal surgery, a metastasis in left lung was detected by computed tomography (CT). No metastases were detected in other organs. The patient underwent thoracoscopic partial pulmonary resection. Pathological findings revealed metastatic tubular adenocarcinoma in the lung and the surgical cut margin was negative.\nSix months after pulmonary resection, the patient experienced left sided myodesopsia, examination for which showed a white and yellow choroidal mass. CT scan of the brain demonstrated a metastatic lesion in the left eye (Fig. 2a and b). A repeat CT scan of chest demonstrated the presence of multiple metastases in both lungs (Fig. 3a and b). No other metastatic lesions or recurrences were detected. The patient elected to undergo radiotherapy for his choroidal metastasis. After radiotherapy (45 Gy/25 fr) to the left eye, bevacizumab + CapeOX (capecitabine + oxaliplatin) was initiated for 18 months and bevacizumab + FOLFIRI was continued for 9 months until the time. The patient has survived for 2 years and 3 months without signs of recurrence in the left eye and is receiving ongoing systemic chemotherapy for multiple lung metastases.",
"gender": "Male"
}
] |
PMC4276086
|
[
{
"age": 40,
"case_id": "PMC6130174_01",
"case_text": "A 40-year-old male presented with a 3-year history of sensory changes involving the S2-S3 distribution in the right leg (e.g., hypoesthesia without motor weakness or dysuria). The lumbosacral MRI showed a noncontrast enhancing right-sided cystic mass at the S2-S3 level; it had the same intensity as CSF on both the T1- and T2-weighted images [Figure 1]. Coronal fat-suppressed T2-weighted images revealed the mass likely originated from the right S3 nerve root and was additionally compressing the right S2 nerve root [Figure 2].\nA laminoplastic laminotomy was performed at three levels using an ultrasonic bone curette. At surgery, the S3 nerve root was enveloped within cyst wall and the S2 nerve root was clearly compressed [Figure 3a and b]. Partial resection of the cyst wall and imbrication of residual tissue was performed [Figure 3c]. An inlet from the subarachnoid space was identified, and its obliteration was confirmed by a Valsalva maneuver [Figure 3d]. This subarachnoid connection was sealed with adipose tissue and fibrin glue [Figure 3e]. Plication of the cyst wall was performed with nonpenetrating titanium clips (Vascular Clip System; LeMaitre Vascular Inc., Burlington, MA) [Figure 3f]. No postoperative CSF leakage occurred, and spinal lumbar drainage was not warranted. The patient's preoperative sensory disturbance resolved. The postoperative MRI showed a reduction in the cyst's size [Figure 4a and b] and no residual compression of the S2 nerve root [Figure 4c]. Histopathological examination confirmed collagen connective tissue without nerve fibers, findings consistent with a Tarlov cyst [Figure 5]. The patient remained asymptomatic 6 months later, and the 6-month postoperative sacral MRI demonstrated no cyst recurrence.",
"gender": "Male"
}
] |
PMC6130174
|
[
{
"age": 5,
"case_id": "PMC7393219_01",
"case_text": "We present the case of M., a child affected by a congenital disorder of the primary visual pathway, specifically retinal dystrophy (Leber Congenital Amaurosis), diagnosed at the age of 5 months on the basis of a poor vision from birth, abnormal eye movements, macular atrophy attenuated retinal vessels, and severely reduced scotopic and photopic electroretinogram and abnormal Visual Evoked Potentials (De Laey's criteria). He was enrolled in our re-habilitation intervention since his first admission at our clinic (9 months of age). At admission, we performed clinical and instrumental evaluations (i.e., electrophysiological exams, EEG, and brain MRI) to specifically define the visual impairment and investigate possible comorbidities and syndromic forms of retinal dystrophy. Neurophthalmological examination showed sluggish pupillary reactions, nystagmus, roving eye movements, and a deficit of fixation and pursuit that improved with the addition of sound; fundus oculi examination confirmed the presence of macular atrophy and attenuated retinal vessels; no refractive errors were also reported. Binocular grating acuity (Teller Acuity Cards) testable only at the distance of 38 cm, was of 0.60 cy/deg, revealing severe perceptual deficit with residual close-up visual acuity; contrast sensitivity, evaluated with Hiding Heidi Low Contrast Face Test, was also altered (close-up response only for high contrast stimuli). Oculo-digital signs such as \"eye-pressing\" were present. Central Nervous System involvement was excluded, along with other comorbidities. A panel gene testing confirmed the diagnosis of inherited congenital non-syndromic retinal dystrophy involving NMNAT1 gene.\nNeurological examination was normal except for mild aspecific hypotonia, frequently described in severely visually impaired children. The child had good relational competences and attention span for his age, with some degree of emotional stress, expressed through motor hyperactivity and emotional lability, probably due to the necessity to adapt to the environmental requests. Head control and sitting position were acquired, rolling over was rarely observed and improved with the aid of auditory stimulus. Reaching and grasping of objects were performed only with audio-tactile integration, and subsequent occasional integration of visual information. The child functionally used both hands and showed a preference for specific textures. Neuropsychomotor development, evaluated by Reynell-Zinkin Scale (RZS), was characterized by a slight decline in the area of environment exploration and expressive language.",
"gender": "Male"
}
] |
PMC7393219
|
[
{
"age": 65,
"case_id": "PMC4118727_01",
"case_text": "A 65-year-old male patient presented with a painless, polypoidal lesion over the tongue, rapidly grown over a period of one month. Physical examination revealed a non-tender, non-ulcerated pedunculated exophytic mass arising from the right lateral border of the tongue. The mass was adherent to underlying structures. The patient did not have a history of pre-existing SCC or radiation therapy, and there was no regional lymphadenopathy. Clinical diagnosis of lingual SCC was made. An excisional biopsy was done and sent for histopathological examination.\nGrossly, the mass was 2 x 2 x 1 cm polypoidal, grey-white, and hard in consistency. The cut surface was grey-white solid homogeneous [Figure 1]. Microscopic examination revealed a tumour composed of proliferating atypical bipolar spindle cells and small nests of squamous epithelial cells [Figure 2]. Malignant spindle cells, arranged in fascicles [Figures 3 and 4], formed the main bulk of the tumour. The cells had increased nuclear-cytoplasmic ratio with round to oval nuclei and prominent nucleoli and a moderate amount of eosinophilic cytoplasm. In between, the spindle cell numerous proliferating capillaries and inflammatory cells were also noted. At a few foci, small nests of malignant squamous epithelial cells and epithelial pearls were seen [Figure 5]. The tumour showed surface ulceration and areas of haemorrhage. The lesion was diagnosed as spindle cell neoplasm. On immunohistochemistry, vimentin was strongly positive in the spindle cell component [Figure 6] and negative in the epithelial component. Cytokeratin was focally positive in spindle cell component [Figure 7] and strongly positive in the epithelial component [Figure 8].",
"gender": "Male"
}
] |
PMC4118727
|
[
{
"age": null,
"case_id": "PMC3447225_01",
"case_text": "The patient is the son of nonconsanguineous parents of Turkish origin. Family history revealed only familial hypercholesterolemia in the mother's family. After an uneventful pregnancy, the child was born at term with a birth weight of 2,315 g and a birth length of 47 cm. At birth, a partial cleft left lip and a complete cleft right lip and palate were found. The patient had several surgical corrections during the first 18 months of life.",
"gender": "Unknown"
},
{
"age": 3,
"case_id": "PMC3447225_02",
"case_text": "At the age of 3 6/12 years the patient was referred because of the presence of a moustache. Height was 101.7 cm (+0.5 SDS) and weight 15.5 kg (-0.1 SDS). After an initial catch-up growth between birth and the age of 2 years, height followed the +0.5 SD-line, in agreement with target height of 183.2 cm (+0.4 SDS). Bone age, according to Greulich and Pyle was 4.0 yrs. Pubertal score according to Tanner was A1P1G1, with only some downy pubic hair, a testicular volume of 2 mL and penile length of 4.7 cm (-0.9 SDS). There was no sebaceous skin. Blood pressure was 110/60 mmHg. Except the moustache with dark pigmented hair all over the upper lip (Figure 1) and the scars of the cleft lip operations, physical examination was normal. \nHematological parameters and serum electrolytes were within normal limits. Early morning levels of adrenocorticotropine (ACTH: 26.8 pmol/L [<22 pmol/L]; normal levels between [ ]), adrenal androgens (dehydroepiandrosterone 7.6 mmol/L [<1.2 mmol/L]; androstenedione 1.26 nmol/L [<0.9 nmol/L]); as well as of 17-alpha-hydroxyprogesterone (72.7 nmol/L [<1.0 nmol/L]) were elevated. Serum concentrations of cortisol (491 nmol/L) and testosterone (<0.15 nmol/L) as well as plasma renin concentration (31.2 ng/L) were normal. After a 0.25 mg intravenous bolus of tetracosactide (Synacthen), cortisol levels increased slightly to 596 nmol/L, whereas 17-alpha-hydroxyprogesterone levels increased to 140.8 nmol/L [<6.0 nmol/L]. Baseline and stimulated 17-alpha-hydroxyprogesterone levels were compatible with NCAH according to the nomogram of New et al..",
"gender": "Unknown"
},
{
"age": null,
"case_id": "PMC3447225_03",
"case_text": "Genomic DNA was extracted from peripheral lymphocytes of the patient and his mother after informed consent. The father was not examined. The CYP21A2 gene, encoding for the 21-hydroxylase enzyme, was PCR amplified in two segments as described by Ohlsson and Schwartz using Expand Long Template PCR System (Boehringer Mannnheim). PCR products were visualized on a 1% ethidium bromide stained agarose gel and purified with JET quick from Genomed. The two segments were sequenced in both directions, using an Applied Biosystems 310 automated DNA sequencer ABI Prism and BigDyeTM terminator Cycle sequencing Ready Reaction Kit from AB Applied Biosystems, according to the manufacturer's specifications. The obtained sequences were compared to the normal sequence, and in the patient 2 mutations were found: R132C in exon 3 and R339H in exon 8 (Figure 2). The observed mutations were confirmed by resequencing (R132C) or by restriction analysis (R339H). A PCR product of 296 bp was obtained by the following primers: R339H-F: 5'-TTGCTGAGGGAGCGGCTGGA, and R339H-R: 5'-AGCCTAGACACCCCTGGGTT, spanning the site of the R339H mutation. The mutation destroys a ApaI restriction site, while the normal sequence is cut into two fragments of 144 + 153 bp. The normal sequence has a ApaI site 144 + 152 bp. Restriction of the PCR product from the patient confirmed the heterozygosity, showing both 296 (mutant) + 144 + 152 (wild-type) (Figure 3). The mother was heterozygous for the R132C mutation, but did not carry the R339H mutation.",
"gender": "Male"
}
] |
PMC3447225
|
[
{
"age": 61,
"case_id": "PMC4939985_01",
"case_text": "A 61-year-old man with a history of smoking was diagnosed with left lung cancer and mediastinal lymph node metastases. From May 2013 to December 2014, the patient was treated with erlotinib hydrochloride targeted therapy, two regimens of chemotherapy, and thoracic radiation therapy at a dose of 4,020 cGy/5 f/1 wk. In March 2015, disease progression was observed in the left lung and humerus lesions; thus, radiotherapy was administered at a dose of 3,600 cGy/12 f/3 wk. In July 2015, he was transferred to our hospital. Further examinations, including nuclear magnetic resonance imaging of his head, pathological examination, and positron emission tomography-computed tomography were conducted, showing multiple metastases in his brain, lymph nodes, liver, spleen, adrenal gland, and humerus (Figure 1A-E). A pathological analysis of the liver biopsy revealed a moderate-low differentiation squamous cell carcinoma with necrosis. The tumor exhibited the following immunohistochemical characteristics: CK5(+), p40(+), CK7(-), CK20(-), TTF-1(-), Napsin A(-), CDX2(-), CK19(+), and GPC3(-).\nAfter integrated consideration and informed consent, we concluded that palliative treatment was appropriate. Anti-PD-1 antibody was a suitable choice. At the request of the patient for further treatment, we administered nivolumab, in an effort to control the advanced disease and prolong survival and quality of life. Nivolumab was administered at 3 mg/kg for 1 hour, once every 2 weeks, as a total of three infusions from August 6, 2015, to September 4, 2015. On the second day after the first infusion, the patient developed an intermittent fever, with a maximum body temperature of 39.6 C, and the routine blood examination showed that his white blood cell count had increased to 15.72x109/L with 96.8% neutrophil granulocytes and the C-reactive protein had elevated to 156 mg/L, which indicated a severe infection (grade 3, National Cancer Institute Common Terminology Criteria for Adverse Events 3.0). Bacterial and fungal cultures of sputum showed Acinetobacter baumannii and Candida albicans infections. Then, meropenem (0.5 g q8h) and fluconazole (200 mg qd) were administered intravenously on August 8, according to drug sensitivity tests. After treatment with antibiotics, further bacterial and fungal cultures of sputum were conducted on August 16 and were negative for A. baumannii and C. albicans. The white blood cell count had decreased to 9.0x109/L and the C-reactive protein had dropped to 65 mg/L, suggesting that the infection was controlled. As a result, meropenem and fluconazole infusions were discontinued. Subsequently, the patient had a fever every other day, which was relieved each time by administration of dexamethasone. He experienced mild hemoptysis of ~10 mL of blood on September 11 and slightly blood-stained sputum on the following 3 days. We gave him hemostasis and coagulation. Moreover, the patient had a progressive aggravation of thrombocytopenia (platelet count dropped to 28x109/L), although it was normal before the therapy. Chills, cough, sputum expectoration, and shortness of breath were observed after each antibody infusion. These symptoms were alleviated through anti-infection therapy with meropenem and fluconazole, as well as dexamethasone. A chest computed tomography examination revealed that the treatment was effective and the lung lesions had shrunk after the therapy (Figure 1F), but the patient passed away on September 26 without other severe symptoms.\nCellular immunity was monitored during the treatment. The proportion of lymphocyte (Lym) subpopulations, including T, B, natural killer (NK), regulatory T (Treg), cytotoxic T Lym (CTL; CD3+CD8+CD28+), and suppressor T Lym (Ts; CD3+CD8+CD28-), and the expression of several immunoregulatory molecules (inhibition and activation), including CD25, CD28, CTLA-4, PD-1, Foxp3, TGF-beta, and IL-10 in the peripheral blood, were analyzed (Figure 2A and B). Of the Lym proportions, NK cells and Ts were significantly upregulated and CTLs were moderately downregulated, whereas the other Lyms did not vary notably during the observation. The expression of CD25, CD28, CTLA-4, PD-1, and IL-10, but not of Foxp3 and TGF-beta, reduced after the first infusion and then rebounded sharply after the second infusion. The Human Ethics Committee of the Affiliated Hospital of the Academy of Military Medical Sciences approved the case report and the patient provided written informed consent.",
"gender": "Male"
}
] |
PMC4939985
|
[
{
"age": 62,
"case_id": "PMC9133385_01",
"case_text": "A 62-year-old woman was admitted to the neurology department of Tianjin Huanhu Hospital. The patient complained of paroxysmal falls accompanied by impaired consciousness for the last nine days and paroxysmal limb twitch accompanied by gibberish speech for four days. Initially, the patient experienced tonic-clonic seizures, accompanied by impaired consciousness. Later, the patient experienced tonic seizures with head turning to the right and retained consciousness similar to faciobrachial dystonic seizures (FBDS) (Supplementary Materials S1). These incidences occurred more than ten times in a day. The patient was first seen in another hospital, and a brain MRI was done. The MRI showed no abnormalities. The patient was started on sodium valproate, diazepam, and levetiracetam (drug doses unknown). Due to no clinical improvement, the patient was referred for further management. The patient had no previous history of hypertension, coronary heart disease, diabetes, cerebrovascular disease, mental illness, hepatitis, tuberculosis, and no family history of any hereditary disease.\nOn admission, the patient had a body temperature of 36.3 C, a heart rate of 91 beats/min, a respiratory rate of 20 breaths/min, and a blood pressure of 162/85 mmHg. The neurological assessment revealed that the patient had cognitive dysfunction (poor memory and poor calculation ability). However, other categories of the neurological examination, including cranial nerves, motor system, reflexes, sensation, coordination, movement, gait, and signs of meningeal irritation, were normal.\nThe serum testing of routine blood tests, coagulation profile, liver function and kidney function tests, blood sugars, lipid profile, and serological testing for hepatitis B, syphilis, and HIV were negative. In addition, the results of anti-nuclear antibodies, antineutrophil cytoplasmic antibodies, rheumatoid factors, thyroid-stimulating hormone receptor antibodies, anti-thyroglobulin antibodies, and serum tumor markers, including carcinoembryonic antigen, squamous cell carcinoma antigen, cytokeratin-19 fragment, carbohydrate antigen 199, carbohydrate antigen 125, and neuron-specific enolase were normal. The patient had abnormal serum chloride levels of 95mmol/L. Further, the serum AE-related antibodies determined with both tissue-based and cell-based indirect immunofluorescence (IIF) assay in V-Medical Laboratory (Guangzhou, China), including anti-N-methyl-D-aspartate receptor (NMDAR), anti-leucine-rich glioma-inactivated 1 (LGI1), anti-contactin-associated protein-like 2 (CASPR2), anti-gamma-aminobutyric-acid B receptor (GABABR), anti-dipeptidyl-peptidase-like protein-6 (DPPX), and anti-glutamic acid decarboxylase 65 (GAD65) and paraneoplastic neurological syndrome (PNS)-related antibodies including anti-Hu, anti-Ri, anti-Yo, anti-Ma2, anti-CV2, and anti-amphiphysin, was remarkable only for positive anti-LGI1 antibody with a titer of 1:16 (normal <1:10). The CSF showed slight leukocytosis of 10 x 106 / L with lymphocytic predominance. However, the pressure, color, turbidity, glucose levels, chloride levels, Gram staining, acid-fast staining, ink staining, metagenomic next-generation sequencing (mNGS), AE-related antibodies which were also determined with both tissue-based and cell-based IIF assay in V-Medical Laboratory (Guangzhou, China), and PNS-related antibodies of the CSF were normal. The patient had a positive RPR with a serum titer of 1:16 and a positive TPPA. Subsequently, TPPA and RPR in CSF were tested, and both results were positive.\nThe electroencephalography (EEG)showed irregular slow waves with medium to high amplitudes in the right temporal lobe, which spread to the other lobes and showed sharp waves (Figure 1). The brain MRI showed increased signals on T2-weighted and FLAIR imaging in the medial temporal lobe (Figure 2A). The gadolinium-enhanced MRI of the brain showed mild to moderate cord enhancement in the right temporal lobe (Figure 2B). Syphilis can cause multiple system damage. Therefore, magnetic resonance angiography (MRA) was carried out to investigate vascular stenosis or vasculitis-like changes. However, the results revealed no abnormalities (Figure 2C). Moreover, CT of the chest, echocardiography, abdominal ultrasound, urinary tract ultrasound, electromyography, and nerve conduction velocities of the limbs were normal.\nTherefore, uncertainty arose as to whether the patient had both anti-LGI1 encephalitis and NS or whether the LGI1 antibody and LE manifestations were due to the NS. The patient received intravenous penicillin sodium 3.5 million units every 4 h for 14 days to treat the NS. Furthermore, the patient was initiated on intravenous sodium valproate 400 mg two times daily and oral levetiracetam 500 mg two times daily. The drugs were then changed to oral sodium valproate 500 mg two times daily and oral levetiracetam 750 mg two times daily. Improvement was noted with no convulsions and normal cognitive function. Two months later, the serum TPPA was still positive. In addition, the serum RPR was still positive with a titer of 1:8, while the serum LGI1 antibody was positive with a titer of 1:10. Furthermore, a revaluation of the CSF showed that the CSF TPPA and RPR were positive. However, the other CSF tests remained negative. In addition, a repeat of the EEG showed no epileptiform wave emission (Figure 3). Moreover, a repeat of the brain MRI showed no abnormality (Figure 2D). A second course of intravenous penicillin G sodium 3.2 million units every 4 h for 14 days was started. After another four months, the serum TPPA was still positive, the serum RPR test was positive with a titer of 1:8, while the serum LGI1 antibody was negative. Changes in TPPA, RPR, and LGI1 antibodies during the syphilitic treatment are shown in Figure 4. A repeat of the EEG and brain MRI showed normal findings. The third course of intravenous penicillin G sodium 3.2 million units every four hours, was given for 14 days. In addition, oral doses of sodium valproate 500 mg two times daily and levetiracetam 750 mg two times daily were continued. The patient was then followed up for additional three months. The patient reported no further convulsive episodes. In addition, the memory and calculation ability were noted to be normal.",
"gender": "Female"
}
] |
PMC9133385
|
[
{
"age": 35,
"case_id": "PMC8355995_01",
"case_text": "A 35-year-old, para 2, Afro-Caribbean woman, with no significant past medical history, presented on several occasions with abdominal pain during early pregnancy. An ultrasound (USS) scan was performed at 11 weeks gestation to exclude an ectopic pregnancy, which demonstrated a singleton viable intrauterine pregnancy with 2 small cervical fibroids (<4 cm) and a small amount of free fluid in the pouch of Douglas (Figure 1). A diagnosis of fibroid red cell degeneration was determined as an explanation for the abdominal pain. A routine anomaly USS was performed at 20 weeks which was unremarkable (Figure 2).\nDue to ongoing episodes of abdominal pain, an abdominal USS was performed at 21 + 4 weeks gestation which demonstrated normal abdominal and pelvic organs and an intrauterine gestation with anhydramnios. On referral to the obstetric team, a bedside USS performed was unable to identify the fetus.\nA subsequent USS was performed in the fetal medicine unit, which proved challenging due to severe oligohydramnios and uterine fibroids. The fetus could be identified and was noted to be lying laterally in the pelvis.\nInitial management for preterm rupture of membranes was implemented; however, an USS 2 days later demonstrated an empty uterus with the fetus situated near the liver.\nThe patient was referred for an urgent MRI which confirmed the diagnosis of suspected abdominal pregnancy (Figure 3).\nThe patient was transferred to a tertiary center for specialist multidisciplinary management at 22 + 1 weeks gestation, with access to interventional radiology services. She was extensively counselled regarding her options for conservative management or surgical termination of the pregnancy. This included discussions with the neonatal team regarding fetal outcomes at extreme prematurity as well as obstetric and anesthetic input regarding maternal risk of major hemorrhage. The patient remained committed to the pregnancy and was admitted for observation.\nAt 24 + 4 weeks gestation, the patient collapsed with clinical signs of acute intraabdominal bleeding. A laparotomy performed revealed 2 liters of hemoperitoneum. The placenta was embedded at the left cornua, continuous with the left fallopian tube and ovary, and adherent to the omentum.\nThe baby was identified extrauterine and delivered alive but in poor condition. Placental tissue continued within the myometrium; therefore, the left cornua were excised and the uterus repaired, with a blood loss of 4000 ml. Postnatally, the woman was managed in ICU and discharged on day 12. Sadly, the baby died at 24 hours of age.",
"gender": "Female"
}
] |
PMC8355995
|
[
{
"age": 41,
"case_id": "PMC4742477_01",
"case_text": "A 41-year-old secundigravida with normal thyroid function, referred with 34 weeks of gestation after ultrasound exam showed a suspected fetal goiter, which proved to be a solid anterior neck mass with uniform vascularization throughout, particularly in the central region (Fig. 1). Three-dimensional ultrasound in rendering mode clearly showed the neck mass. The subsequent ultrasound showed macroglossia and increased cardiac area and amniotic fluid volume. Fetal MRI was conducted and corroborated the diagnosis of goiter (Fig. 2). Cordocentesis was recommended to assess thyroid function and fetal karyotype because of the maternal age and macroglossia, but the parents opted not to perform the invasive procedure. We then opted for conservative management with strict ultrasound monitoring because the findings suggested fetal goiter associated with hyperthyroidism (central vascularization of the mass in color Doppler and early onset of ossification nuclei, as well as cardiac failure). The ultrasound monitoring showed modest increase in the size of neck mass (34 weeks, 66x35x29 mm; 35 weeks, 70x23x35 mm; 37 weeks, 76x30x45 mm), always the vascularization was evident throughout the mass, mainly in the central zone. The cardiothoracic ratio was slightly elevated, ranging from 0.61 to 0.55.",
"gender": "Unknown"
},
{
"age": 0,
"case_id": "PMC4742477_02",
"case_text": "The birth occurred with 38 weeks of gestation by cesarean section. The newborn, a male, weighing 3,445 g, had Apgar scores of 6/8, atypical face shape, and a solid mass in the anterior neck region. The karyotype performed on the umbilical cord blood was normal. The newborn initially had generalized hypotonia, was intubated, and received mechanical ventilation for eight days. Thyroid function tests performed on the second day after birth were normal. Anteroposterior chest X-rays showed slight cardiomegaly. There were no signs of heart failure and no need for vasoactive drugs during hospitalization. The patient's respiratory condition progressively improved, and he was weaned off the mechanical ventilator and then discharged at 22-days-old.",
"gender": "Male"
},
{
"age": 1,
"case_id": "PMC4742477_03",
"case_text": "In the early neonatal period (three days) the mass was confirmed by ultrasound exam as an asymmetric goiter and its measurements were 61x40x33 and 45x34x24 mm to the right and left lobes, respectively. At the end of the first month, the respective measurements were the followed: 46x29x37 and 40x33x33 mm to the right and left lobes, respectively. Ultrasound monitoring showed progressive decrease in the size of the thyroid, reaching normal dimensions at six months after delivery. Currently, the infant is one year old, and the function and volume of thyroid gland are normal.",
"gender": "Unknown"
}
] |
PMC4742477
|
[
{
"age": 54,
"case_id": "PMC9852504_01",
"case_text": "A 54-year-old male, a ceramic worker with no previous history of immune dysfunction, was admitted to the hospital with persistent fever for 19 days. The patient had a cough occasionally and joint soreness but denied any other symptoms. On initial clinical evaluation, the patient's body temperature was 38.4 C, and other signs were within normal limits. Pulmonary, abdominal, cardiac, and neurologic examinations showed unremarkable findings. Laboratory tests revealed that the patient had leukocytosis (20.72 x 109/ml) with 87.4% neutrophils. His C-reactive protein level was high (90.61 mg/L), and a procalcitonin level was slightly increased (0.173 ng/ml). Contrast-enhanced chest CT revealed a large mediastinal mass measuring approximately 7.76 x 4.55 cm (Figure 1A). The rest of the examination was regular.\nAt initial admission, the patient was treated with empiric antibiotic therapy, including piperacillin and sulbactam. However, he still had a recurrent fever, and there was no significant improvement in inflammatory indicators and blood routine examination. To determine the etiology, the patient underwent Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) on the fifth day of admission. The Virtual bronchoscopic navigation (VBN) system is a method to guide the bronchoscope to the lesion by making a bronchial path on a virtual image. The digitized information from the patient's CT scan was imported into the Archimedes VBN system, in which multislice views of the chest and virtual bronchoscopy images were reconstructed. The VBN system shows the bronchial tree, the anatomical structure of the mediastinal mass and visualizes the best path to reach the mediastinal mass (Figures 2A-E). With the guidance of the VBN system, the bronchoscope was navigated to the target bronchus and advanced to the lesion, and then EBUS-TBNA was performed to obtain purulent exudate (Figures 3A-D). Biopsy showed more purulent secretions and a few lymphocytes and macrophages (Figure 4A). Microscopic analysis revealed numerous weakly acid-fast and branching filamentous rod bacteria were identified from the samples on the aspirate smear, and a presumptive microbiological diagnosis (Nocardia) was made (Figure 4B). Metagenomic next-generation sequencing (mNGS) subsequently identified the pathogens as Nocardia species (Nocardia arizonensis and Nocardia cyriacigeorgica). And after seven days of culture, the cultures of purulent exudates ultimately grew the Nocardia species (Figure 4C).\nAfter microscopic examination and mNGS confirmed Nocardia, intravenous imipenem/amikacin was given. The clinical symptoms of the patient were significantly improved after 6 days of treatment. Then he was switched to intravenous imipenem with oral trimethoprim/sulfamethoxazole (TMP/SMX, 80 mg of TMP, and 400 mg of SMZ/tablet) 3 tablets q6h. One month after treatment, the patient improved, and their Chest CT showed a decrease in the size of the mediastinal mass (Figure 1B). He was discharged and continued to be treated with oral TMP/SMX 3 tablets q8h and sodium bicarbonate for 3 months. Over the next 3 months, he continued on oral TMP/SMX 2 tablets q8h and sodium bicarbonate. After six months of treatment, the patient was asymptomatic. His CT showed significant improvement in the mediastinal mass size (Figure 1C). At one and a half years of follow-up, the patient recovered well, and no complications were noted (Figure 1D).",
"gender": "Male"
}
] |
PMC9852504
|
[
{
"age": 72,
"case_id": "PMC9597005_01",
"case_text": "A 72-year-old non-smoking African American woman, with no personal or family history of cancer, was diagnosed with squamous cell carcinoma of the right maxillary sinus in 2012 and was initially treated with transoral resection. The cancer recurred in 2015 and the patient underwent right total maxillectomy including resection of the right orbital floor with reconstruction, and right neck dissection. She was staged as pT3N0 with positive margins and perineural invasion. PD-L1 tested in the primary tumor by IHC (using Dako 22C3 pharmaDx antibodies) was 70% by tumor proportion score. Tumor DNA analysis by the FoundationOne platform (Foundation Medicine, Cambridge, MA, USA) measured a tumor mutation burden (TMB) of 9, two TP53 mutations and a BRCA1 mutation, among others (Figure 1(c)). Genetic evaluation was negative for any inherited genetic abnormalities.\nFollowing surgery, she underwent adjuvant radiochemotherapy with 66 Gray and weekly cisplatin. Follow-up imaging demonstrated progression of metastatic cancer with lesions in the mediastinum, lung, and liver. The patient started palliative chemotherapy with weekly carboplatin and paclitaxel but progressed after 6 months with increased number and size of the metastases including a 3.5 cm mediastinal mass, a 3.8 cm left lower lobe (LLL) mass, and multiple liver masses measuring up to 5 cm (Figure 1A). Given her recurrent and metastatic status with progression on a platinum-based regimen, she was recommended palliative treatment with single-agent pembrolizumab (given at a dosage of 200 mg/m2 every 3 weeks) and began treatment in October 2016.\nAfter the third administration of pembrolizumab, the patient presented to an outside hospital with a vesicular skin rash associated with severe neuropathic pain and pruritis of the left lower extremity from the thigh down to the shin in a L4-L5 dermatomal distribution. The patient was not vaccinated against herpes zoster virus (HZV). Given the typical clinical presentation (unilateral vesicular skin rash in a restricted dermatomal pattern associated with severe neuritis), the patient was diagnosed with herpes zoster infection and was prescribed valacyclovir. After 7 days of treatment, the skin lesions and pain continued leading to extension of valacyclovir treatment. Given the acute viral infection, pembrolizumab was held. The vesicles gradually improved, but the patient had persistent pain and ultimately developed new open wounds. She was admitted in the hospital where Infectious Disease and Dermatology services were consulted. A biopsy was performed, which was consistent with pyoderma gangrenosum. This was considered to be an isomorphic reaction related to the previous zoster infection. The patient was started on treatment with prednisone. She gradually recovered and prednisone was tapered over 2 months.\nFollow-up computed tomography (CT) scans performed 1 month after the diagnosis of herpes zoster infection (going along with discontinuation of pembrolizumab application) showed improvement in all targeted metastatic lesions. At this time, the mediastinal mass measured 2.7 cm, the LLL mass was replaced with an area of consolidation, and the liver lesions sizes decreased with the largest now measuring 1.7 cm (Figure 1(a)). After another 4 months, the skin lesions healed, and plans were made to resume immunotherapy due to concerns for tumor progression during the long treatment break. Repeated imaging, however, demonstrated stable tumor disease, and as the patient was recovering with limited performance status, resumption of ICI treatment was paused in favor of close imaging monitoring.\nFollow-up CT scans were obtained after another 3 months and demonstrated further decreased sizes of the lung and liver lesions and no measurable disease in the mediastinum or LLL. At this time, the largest liver lesion measured 1.1 cm. On this basis, the decision was made to continue active surveillance and resume treatment only upon progression. From then on, imaging was repeated every 3-4 months, and at the 1-year post-treatment scans a complete disappearance of mediastinal and liver lesions was observed, beyond that the residual LLL lesion was considered atelectatic.\nIn February 2019, concerns for recurrence in the LLL were raised due to the increase in size of the lung lesion with increased metabolic activity on a positron emission tomography scan. However, the patient still was completely asymptomatic. Two lung biopsies, one transbronchial and one transthoracic, were found to be completely negative for tumor cells; on the contrary, only signs of an acute inflammation (first biopsy) as well as a chronic inflammation (second biopsy) were detected. Further follow-up imaging showed that the lung lesion decreased in size to baseline, and the associated metabolic activity had resolved spontaneously. The patient remains in complete imaging remission to date, now 5-year post-treatment (Figure 1(a)). Circulating tumor mutations have been monitored using the Guardant360 platform (Guardant Health, Redwood City, CA, USA) over the last 4 years and the patient continues to present a circulating TP53 clone, although the percentage has been slowly decreasing (Figure 1(b)).",
"gender": "Female"
}
] |
PMC9597005
|
[
{
"age": 5,
"case_id": "PMC8683245_01",
"case_text": "We present a 5-year-old female child who was symptomatic since the early neonatal period with skin lesions, intermittent painless vaginal bleeding, and breast enlargement. For these complaints, the parents took the child to the nearby health facility, but they were reassured. Compared to her peers, her growth in length was fast since her early childhood, but she had poor weight gain. At the age of 3 1/2 years, she presented to an orthopedic clinic with bowlegs for which she was seen and sent home without any intervention. But after one week, she had a trivial fall down accident, and she sustained pathological fractures on both upper and lower extremities. Plaster of Paris (POP) cast was applied for the lower left arm, and open fixation with plate was done for the left femur.\nDuring the procedure, tachycardia was detected, for which she was investigated and diagnosed to have hyperthyroidism. She was initially put on propylthiouracil (PTU) and propranolol. After eight months of the procedure, there was displacement of the plate. The orthopedic surgeon decided to revise the operation, but the thyroid function was not controlled for which she was referred to a paediatric endocrinology clinic for better management of hyperthyroidism.\nOn physical examination at the paediatric endocrinology clinic, she was emaciated. Her weight was 16 kg (between 10th and 25th percentiles) and her height was 115 cm (on the 95th percentiles). Weight for height was far less than 5th percentile (underweight), based on CDC growth charts. Her pulse rate was 123 bpm, and she had protruded eyes. CAL spots were noticed on her face, neck, and trunk (Figure 1(a)). There was a 5 cm by 3 cm anterior neck mass with an irregular surface (Figure 1(b)). There was also breast enlargement. She had a grade III early systolic murmur best heard at the left upper sternal border. There was swelling and tenderness at the right midshaft of the humerus and short POP on the left lower arm. She had a wide gait. Based on her clinical findings, she was diagnosed to have MAS.",
"gender": "Female"
}
] |
PMC8683245
|
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