Datasets:

hippocrates

/

PMCPatients_common_train

like 0

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 54 years old man presented with ED secondary to a robotic radical prostatectomy in 2005. He had not responded to PDE5i inhibitors, intracavernosal injection therapy with PGE1 or vacuum therapy. He had a history of hypertension, diabetes, and chronic renal failure, all of which were well controlled. He also was incontinent, needing 4 pads per day and so initially underwent the placement of an artificial urinary sphincter (AUS) in 2008. This proceeded uneventfully with the balloon of the AUS placed in the right iliac fossa.\\nTwo years later he had the insertion of an inflatable penile prosthesis (AMS 700 CX) using a 100 mL reservoir placed in the left retropubic space using a blind puncture through the external ring. He made an unremarkable post-operative recovery and was discharged with the implant deflated to be reviewed in clinic. Over the following 3 months he had problems inflating the device due to a “sticky pump” and pain in the right iliac fossa. To exclude a device leak an magnetic resonance imaging was ordered which showed the reservoir to be full and centrally placed within the pelvis (Fig. A).\\nThe patient was then offered an exchange of pump but decided instead to have the device replaced with a malleable penile implant which was performed after an additional 3 months. The cylinders and pump were removed and a malleable Genesis implant inserted after a mini salvage washout. The reservoir was emptied and retained after the tubing was cut high. At follow up the malleable implant was excellently sited but the patient continued to experience right abdominal pain. An abdominal CT scan was ordered which revealed that the reservoir had migrated into the abdomen and had become wrapped around the caecum (Fig. B). Removal of the reservoir was planned initially by a laparoscopic approach although due to adhesions it was difficult to identify it. An open incision was then made in the right iliac fossa but the reservoir could not be found. A second midline upper abdominal incision was made and the reservoir retrieved for the left upper quadrant. A speedy recovery was made, the right abdominal pain resolved and the patient was happily having sexual intercourse.\nOUTPUT:" }, { "from": "agent", "value": "Erectile dysfunction, Peyronie disease" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: X-ray of the right shoulder performed a month earlier was within normal limits.\\nShe was then referred to the physical medicine and rehabilitation ultrasound (US) clinic for shoulder evaluation and US-guided appropriated steroid injection.\\nA standardized US evaluation[] of both shoulders was conducted with an US machine (Samsung RS80A, Samsung Medison Co., Ltd., Seoul, Korea) equipped with a linear LA4-18B probe. This structure was moderately painful with sonopalpation.\\nThe subscapularis tendon was within normal limits, as well as the acromioclavicular joint. The procedure was well tolerated, and the pain 10 min postprocedure had disappeared with overhead movements. She evolved well over time.\nOUTPUT:" }, { "from": "agent", "value": "Rotator cuff tendinopathy, Subacromial bursitis, Subacromial impingement syndrome" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 9-year-old female pupil referred from a primary health-care center on account of back pain and swelling of 9 days duration. The patient was beaten with a broom on the back by her older female cousin as a punishment for an offense. The broom purportedly swiped a metallic object (needle) from the hand of another person standing nearby and drove it into the patient's back. This was suspected as the metal was nowhere to be found and patient began complaining of excruciating pain at the affected site. Attempts were made to remove the needle after a chest radiograph showed the needle in the subcutaneous region. She was subsequently referred to the hospital after attempts made at removing the needle proved abortive.\\nThe pain was exacerbated by lying on the affected side. There was no history of cough, hemoptysis, and fever or dyspnea at rest or during exertion; there was no bleeding at the site of the trauma.\\nOn examination, she was not pale, anicteric, cyanosed, and no respiratory distress. Scarification marks were however noted over the body, more pronounced in the trunk. Normal weight and height for age were seen.\\nEssential findings were in the musculoskeletal system. There was a thin plaster over the right paravertebral region. Mild swelling was seen at the site, with an incision marks over the swelling. The site was mildly tender with no differential warmth or pointing sign.\\nChest radiograph revealed a sharp linear metallic density structure (the needle) in the chest at the level of the 9th posterior rib extending from the subcutaneous tissues into the adjacent lung [Figure and ].\\nSoft-tissue ultrasound of the affected region was essentially normal. No foreign body was seen within the soft tissues.\\nChest computed tomography also demonstrated the linear metallic density structure in the right chest within the lung fields, with no hydropneumothorax or reactive pneumonia. Mild pleural thickening was however noted at the site. The needle had been displaced further into the lung fields [].\\nSince the patient was asymptomatic at the time of presentation (no pneumothorax or pleural effusion), the surgeons hence decided to practice “watchful waiting.” Both parents were advised of the need for video-assisted thoracoscopic surgery. She is presently being followed up at the clinic.\nOUTPUT:" }, { "from": "agent", "value": "Child abuse" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Our patient was an 18-year-old female with a past medical history of hypertension, biliary atresia status post-liver transplant at the age of 1 year and asthma who presented with complaints of fatigue, weakness, nausea, vomiting, and diarrhea lasting approximately three to four weeks. Her primary care physician instructed her to seek medical attention after outpatient labs were found to be significant for severe anemia. Her home medications include amlodopine, azathioprine, cyclosporine, prednisone, and an albuterol metered-dose inhaler.\\nThe patient’s vital signs were significant for tachycardia. She was not in acute distress and was alert and oriented. Her physical examination was unremarkable except for scars from a previous surgery. Admission laboratory findings were significant for hemoglobin 53 g/dL; sodium 134 mEg/L; potassium 3.4 mEg/L; chloride 96 mmol/L; CO2 21 mmol/L; creatinine 16.3 mg/dL; glucose 80 mg/dL; and calcium 8.1 mg/dL. Liver function assays and coagulation studies were within normal limits; urine human chorionic gonadotropin was negative. The patient’s cyclosporine at the time of admission was 23 ng/mL. As a result, her drug dosage was adjusted and repeat levels on the fifth day of admission were reported at 93 ng/mL. Urinalysis was significant for +3 protein and +2 bacteria but negative for blood. Her spot urine protein and creatinine ratio was in the nephrotic range. Urine cultures were negative. Renal ultrasound revealed increased echogenicity of the kidneys, measuring 8.8 cm on the left and 10.1 cm on the right side.\\nAfter appropriate transfusions, the patient was started on hemodialysis, and responded well to treatment. Renal biopsy was pursued, as the patient could be deemed a candidate for renal transplant, given her age. The patient was eventually discharged in stable condition and remained dialysis-dependent.\nOUTPUT:" }, { "from": "agent", "value": "IgA nephropathy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: During infancy, he underwent bilateral BT shunts followed by transcatheter perforation of the PV. As significant PS with clinical signs of severe pulmonary hypoperfusion persisted, 1 month before attending our ACHD Unit, a percutaneous PV balloon dilatation was successfully performed at other institution with subsequent improvement in effort tolerance. On admission at our unit, the patient reported severe shortness of breath. On physical examination, the patient was febrile, HR was 105 b.p.m., room air oxygen saturation was 90%, and a harsh 4/6 Levine systolic murmur was appreciable at the cardiac base. At TTE, a narrow RVOT with a dysplastic PV overriding a large, unrestricted VSD were visualized from subcostal and modified apical views (Figure and C). Normal biventricular systolic function (LVEF 58%, TAPSE 18 mm) was demonstrated. Doppler analysis revealed severe PS with peak gradient measured at 93 mmHg with no significant pulmonary regurgitation (PR) detectable (Figure ). Moreover, a large and mobile vegetation was visualized attached to the ventricular side of the PV (Figure –D and , Videos S4 and S5). No signs of pulmonary embolization were demonstrated at the PET/CT imaging. Streptococcus sanguinis was isolated from blood cultures and adequate antibiotic regimen with gentamicin and ceftriaxone was administered for 6 weeks with clinical improvement and echo evidence of progressive reduction in size of the vegetation. At 6-month follow-up, TTE showed complete resolution of the PV vegetation (Figure and , Video S6), and the patient was managed conservatively.\nOUTPUT:" }, { "from": "agent", "value": "Pulmonary valve endocarditis, Complex congenital heart disease, Mesocardia, Congenitally corrected transposition of the great arteries, Non-restrictive ventricular septal defect (VSD), Pulmonary atresia with hypoplastic pulmonary arteries" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 53-year-old Caucasian man with no major past medical history except for squamous cell carcinoma of the neck presented with sudden onset right loin pain associated with nausea. His physical examination was remarkable for a blood pressure of 194/129 mmHg, regular heart rate of 87 bpm and right lower quadrant abdominal tenderness without any skin lesions. Laboratory studies showed a serum creatinine level of 1.20 mg/dL (106.08 µmol/L), mild leukocytosis with WBC of 13 800/mm3, hematuria and leukocyturia. C-reactive protein was elevated at 193.7 mg/L (reference range: 0–4.9 mg/L). A comprehensive immunologic workup including antinuclear antibody, antineutrophil cytoplasmic antibodies, serum and urine protein electrophoresis as well as serum complement levels was normal. Thrombophilia tests including protein C, protein S, anticardiolipin antibody, anti-β2 microglobulin antibody and factor V Leiden were all negative. Echocardiogram did not show any thrombus or vegetation.\\nIn light of imaging evidence of short-segment dissections and downstream ischemia of multiple arteries associated with the lack of any evidence of an ongoing immunologic process, cutaneous lesions or hypercoagulability state, the diagnosis of FMD was made. Supportive therapy, including analgesics and intravenous antihypertensive agents that were subsequently switched to oral medicines, was followed by improvement in symptoms and adequate control of blood pressure; the follow-up CT angiography a few weeks later demonstrated stabilization of the renal lesions. Interestingly, a subsequent CT angiography that was performed 8 months later could further identify several clinically silent microaneurysms.\nOUTPUT:" }, { "from": "agent", "value": "Bilateral renal infarction, Fibromuscular dysplasia" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: During his follow-up period, he\\nhad no symptoms until he presented at our institute,\\nKecioren Research and Training Hospital,\\nAnkara, Turkey, with hematuria. There was no\\nhistory of chemotherapy or radiotherapy. In the\\nabdominal magnetic resonance imaging (MRI) examination,\\nthere was 41×42 mms polypoid mass\\nin the anterior wall of the urinary bladder. Bone\\nstructures were normal, radiologically. After collecting\\nthe patient’s urine samples, three slides\\nwere prepared using cytocentrifuge technique, and\\nthey were then stained with May-Grünwald-Giemsa\\n(MGG, Merck, Germany), Papanicolaou (PAP;\\nBiostain, UK) and hematoxylin and eosin (H&E,\\nBiostain, UK) methods. After the examination by\\na light microscope, many small hyperchromatical\\ncells similar to lymphocytes were detected (), while they were mostly isolated or formed small\\ngroups. Focal cell molding was also noted in clusters\\n(). We reported it as malignant cells in urine\\ncytology, and the cytomorphological pattern was interpreted\\nas small and blue round cell tumor that was\\nconsisted with SCC, but due to degenerated and separated\\ndistribution of cells in urine, differential diagnosis\\nwas difficult. Transurethral resection (TUR) was\\napplied to the tumor. Light microscopic examination\\nof collected samples showed small hyperchromatical\\ntumor cell sheets invading submucosa and muscularis\\nmucosa (). Immunohistochemical analysis\\nshowed that the tumor cells expressed pancytokeratin\\nand neuroendocrine markers such as synaptophysin\\nand chromogranin (). They were negative for\\ncytokeratin 20 and leukocyte common antigen (LCA,\\n). To consider the patient’s age, no additional aggressive\\nsurgery was performed. There is no evidence\\nof metastasis in MRI results. He was well without any\\nevidence of recurrence 6 months after surgery.\nOUTPUT:" }, { "from": "agent", "value": "Small Cell Carcinoma of Urinary Bladder, CLL" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The authors present the case of a 77- years-old male patient, referred to the emergency department of a Level II Trauma Center. After forceful attempts at closed reduction, an hematoma of the axillary region became evident, with associated hand pallor, absence of ipsilateral radial pulse and hypotension and acute anemia (hemoglobin 6 g/dL); blood transfusion and compressive bandage in the axillary region were performed. The glenohumeral joint was properly reduced ().\\nThe patient was immediately transferred to a Level III Trauma Center for Vascular Surgery evaluation. On admission the patient presented with clinical signs of acute arterial compromise of the left upper limb (no palpable or aubible distal pulses on Doppler ultrasound and the local temperature significantly reduced). Neurological examination did not reveal any injury to the brachial plexus. Radial pulse was palpable immediately after the procedure. No lesion of the brachial plexus was found after stenting.\\nA post-stenting CT angiography was undertaken which revealed a hematoma in the axillary region. The stent was well positioned and permeable ().\\nThe patient was transferred for to the original hospital for post-operative care, including shoulder immobilization for 3 weeks and single anti-aggregation with low dose aspirin (150mg).\nOUTPUT:" }, { "from": "agent", "value": "Ruptured axillary artery pseudoaneurysm, Anterior glenohumeral dislocation" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 75-year-old man reported with the blurring of vision in both eyes. He was known to suffer from PXF and had undergone standard uneventful phacoemulsification with in-the-bag implantation of monofocal IOL in both eyes. In the right eye, a single piece poly (methyl methacrylate) (PMMA) IOL (+19 D) and in the left eye, a single piece acrylic foldable IOL (+19 D) were implanted. The surgeries were performed in the right and left eye at 9 and 8½ years, respectively, before to this examination. All the previous dilated annual eye examinations had been normal, with no clinical evidence of IOL subluxation.\\nOn clinical examination, his visual acuity was 20/60 in both the eyes. Slit lamp examination revealed anterior partial in-the-bag IOL dislocation [Figs. and ], capsular contraction and deformation of IOL haptics. Intraocular pressure by Goldmann applanation tonometer (GAT) was 19 mmHg in both eyes. Pupils were dilated with 2.5% phenylephrine eye drops. Indirect ophthalmoscopy revealed normal ocular fundi. Constriction of pupils and IOL repositioning was tried by instillation of 2.0% pilocarpine eye drops in the supine position, but the procedure was unsuccessful. The next day, IOL along with the capsular bag were explanted surgically, [] and secondary scleral suture fixation of single piece PMMA IOL (Auro India) was done in the same sitting for the right eye. The procedure was repeated for the left eye 7 days later. The IOLs were held with micro forceps and explanted through the limbal route. Limited anterior vitrectomy through pars plana route was also performed. The secondary IOL implantation procedures and postoperative period were uneventful. After 12 months of surgery, best corrected visual acuity was 20/30 in both eyes. The manifest refraction was ±1.00 DC × 180° and +1.00 DS/−1.50 DC −180° in the right and left eye, respectively. The eyes were quiet and IOP was 19 mmHg (GAT) in both eyes.\nOUTPUT:" }, { "from": "agent", "value": "Bilateral spontaneous anterior dislocation of intraocular lens with the capsular bag, Pseudoexfoliation" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 50-year-old Caucasian male underwent JIB in 1987 (BMI = 48.8 kg/m2). He lost 52% of his weight and remained stable at 62 kg (BMI = 23.7 kg/m2) through hyperphagia. A jejunostomy was placed directly in the excluded loop. The same refeeding protocol (Fig. ) was applied.\\nHe tolerated the refeeding protocol similarly well and reached the caloric target (750 kcal/day, 29 g/day of protein, 62 ml/h) at day 9. Because of constipation, Isosource® was subsequently changed to a water-soluble fiber-rich formula (Novasource GI forte®/Nestlé), applied through both the nasogastric tube and the jejunostomy, resulting in better stool formation. After 3 months, improved absorptive ability of the excluded loop allowed to increase the jejunal formula (1500 kcal/day, 60 g/day of protein, 100 ml/h) and to remove the nasogastric tube. After 1 year, the patient’s weight increased (79 kg, BMI = 30 kg/m2), quality of life was good, and kidney function improved (Table ).\nOUTPUT:" }, { "from": "agent", "value": "Severe malnutrition, esophageal candidiasis, diarrhea, delirium, cerebellar ataxia, peripheral neuropathy, multiple electrolyte and micronutrient deficiencies, stage 3B chronic kidney failure with hyperoxaluria, and metabolic acidosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: He stated had edema of eyelid and low limbs intermittently and weakness of whole body. A peritoneal dialysis catheter (a right side straight two cuffed Tenckhoff catheter) was placed in August 2012, and the patient received peritoneal dialysis regularly since that time. In May 2019, Leakage of peritoneal dialysis fluid was noted at the exit-site of the PD catheter. After a week of antibiotic therapy, (Imipenem 0.5 g Intraperitoneal for 4 h once, Meropenem 0.5 g Intravenous infusion Q12h), his body temperature returned to normal; however, the peritoneal dialysis effluent became turbid, and passage of watery stool occurred immediately after each infusion of peritoneal dialysate into the abdominal cavity. ). Peritoneal dialysate containing methylene blue reagent was injected into the abdominal cavity. After 2 hours, anal drainage was light blue (Fig. ). Colonoscopy revealed methylene blue at the area of the appendiceal orifice (Fig. ), which confirmed the presence of a communication between the abdominal cavity and the bowel lumen. Peritoneal dialysis was discontinued and hemodialysis was initiated. The peritoneal catheter was removed by open surgery. No abdominal pain, abdominal distension, or other symptoms occurred during the follow-up period, which lasted a minimum of 3 months.\nOUTPUT:" }, { "from": "agent", "value": "Intestinal fistula, Recurrent peritonitis, Chronic kidney disease stage-V, Chronic nephritis, Hypertension" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A one and-a-half year old boy was presented to the emergency department with a four day history of coughing, repeated vomiting, irritability and refusal of food. His symptoms began after returning from a picnic. The boy had no prior history of breathing difficulties or cyanosis. A medical examination revealed that the boy had a low grade fever and a few crepitations in the left lower chest. A chest radiograph () revealed a rounded, coin-like foreign body at the cervicothoracic junction. An endoscopy performed under general anaesthesia revealed a foreign body in the upper esophagus at 15 cm from the incisors. The button battery was partially embedded in the esophageal wall, which was edematous and ulcerated with charred tissues around the foreign body. During manipulation, the patient's blood oxygen saturation level dropped, which suggested that signs of pneumothorax were present and this prompted the insertion of bilateral chest tubes. As a result, the patient's oxygen saturation level improved and the bilateral air entry was confirmed by a chest radiograph. Following a difficult manipulation, a lithium button battery was removed from the patient. The battery shell remained intact without signs of leakage. Regardless, the patient was kept on nasogastric tube feeds and broad spectrum antibiotic coverage. Ten days after the procedure, a gastrograffin esophagogram was performed, which did not reveal any evidence of a leak. Consequently, the patient was started on oral feeds and was discharged two days later, however was readmitted almost six weeks later, with complaints of neck pain, stiffness, restricted neck movement and intermittent fever since the previous two weeks. In addition, narrowing of the tracheal lumen was also noted at this level. Also, there was diffuse enhancement in the prevertebral soft tissues around the esophagus, trachea and mediastinal planes, which suggested mediastinitis (). A gastrograffin esophagogram had not revealed any obvious leakage; however, the patient did improve with antibiotics and was afebrile, free of pain and had improved neck movement at the time of discharge.\nOUTPUT:" }, { "from": "agent", "value": "Spondylodiscitis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 50-year old woman, 144 cm for 58 kg, initially presented with abdominal pain. Patient has provided informed consent for publication of the case. She had a past medical history of total thyroidectomy, and multiple surgery for fractures. Cross sectional imaging (Fig. ) and endoscopic ultrasonography reveled a global main pancreatic duct dilatation over 10 mm associated with a cephalic 25-mm enhanced mural nodule with portal vein lateral abutment, without distant metastasis. Leucocyte and duodenum juice deoxyribose nucleic acid (DNA) analysis[ (endoscopically collected from secretin-stimulated pancreatic juice; Supplemental Video) revealed the same G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS) (NM_000516) activating mutation c.601C>T (p.Arg201Cys) (Fig. ). The same mutation was also detected in plasma circulating DNA. The patient underwent pancreaticoduodenectomy after 3 months of FOLFIRINOX neoadjuvant chemotherapy. (ypT2 N1 R0) arising from intestinal subtype IPMN (ie, MUC1-, MUC2+, MUC5AC+ immunohistochemistry) with a major (over 90%) response to chemotherapy. Genetic analysis of the IPMN revealed a GNAS (NM_000516) activating mutation c.601C>T (p.Arg201Cys), which was not detected at a 2% variant allele frequency threshold in the adjacent normal pancreas. No KRAS or other driver mutation was detected in the IPMN associated cancer with a targeted 50 genes NGS panel. Imaging and medical work-up, plasma circulating tumor DNA, Formalin-Fixed Paraffin Embedded and pancreatic juice somatic mutation analysis technics are available in Supplemental Material. Thirty months after surgery, the patient is alive with recurrence (bone only metastasis).\nOUTPUT:" }, { "from": "agent", "value": "McCune Albright Syndrome, IPMN related colloid pancreatic adenocarcinoma, Invasive pancreatic colloid adenocarcinoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 29-year-old female patient presented to the Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Nagpur, with the chief complaint of pain and swelling in the left posterior region of lower jaw since 6–7 months. When the patient entered our department, a waddling gait was observed. Proper history revealed vague intermittent bone pain with acquired gait change over a period of few months. Intraoral examination revealed mild obliteration of buccal vestibule []. Orthopantomogram showed multifocal osteolytic lesions on anterior mandible, left posterior body region of mandible and right ramus of the mandible which were more clearly appreciated in cone-beam computed tomography (CT) images [Figures –]. The differential diagnosis of CGCG, HPT, multiple myeloma and metastatic carcinoma was considered.\\nIncisional biopsy revealed highly cellular lesional connective showing proliferation of exceedingly vascular granulation tissue with numerous endothelial lined blood vessels, abundant areas of hemorrhage in the background. There were focal aggregates of multinucleated giant cells (pale eosinophilic cytoplasm and centrally placed 8–10 nuclei) distributed diffusely throughout the section. The picture was suggestive of giant cell lesion [] and histopathology differentials were all giant cell lesions such as CGCG, HPT, giant cell tumor, cherubism and aneurysmal bony cyst. Excisional biopsy revealed the similar picture. Skeletal survey showed multiple discrete radiolucencies in skull, pelvis, chest, spine and tibia []. Blood analysis is depicted in .\nOUTPUT:" }, { "from": "agent", "value": "Brown tumor of hyperparathyroidism, Parathyroid adenoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 23-year-old, 38-week pregnant lady, the pillion rider, sustained a road traffic accident. The patient was initially treated at a secondary care center and was referred to us after four hours. She was a multiparous lady, gravida three para two, with the current pregnancy due in two weeks. After three cycles of CPR, the return of spontaneous circulation (ROSC) was achieved. However, after ROSC, the primary survey as per ATLS was carried out. The airway was already secured with an endotracheal tube. Breathing was intact with bilateral equal chest rise with no sign of any chest injury, and the saturation was 100%. Circulation was inadequate with a heart rate of 132/min and blood pressure of 80mmHg systolic. Hence O negative whole blood was transfused, and the blood bank was alerted for massive transfusion protocol. Simultaneously arrangements for perimortem C-section were made. After four minutes of CPR, the duty obstetricians proceeded with a perimortem C-section. A lower segment cesarean section was performed with a Pfannenstiel incision. A separate team of emergency physicians and pediatricians resuscitated the fetus, whose attempts were unfruitful. The opened uterus and abdominal cavity were packed and left. High-quality CPR was being continued during the whole procedure and after the procedure. CPR was performed for about 35 cycles. However, both maternal and fetal resuscitation went in vain. No ROSC was achieved. Hence we declared both the mother and baby to be dead.\nOUTPUT:" }, { "from": "agent", "value": "Cardiac Arrest" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 71-year-old female presented to the clinic with rashes on bilateral shins and abdomen (Figure ). The rashes were petechiae-like and pruritic. The patient appeared well with no systemic symptoms including no fever, no arthralgia, and no infective symptoms. No organomegaly was present. The patient has had no recent change in medication and denies any new clothes or gardening. The rash was unresponsive to antihistamines. The patient has also been taking folic acid supplementation of 5 mg daily.\\nBlood tests were ordered for the patient including full blood count (FBC), urea, electrolytes, and creatinine (UEC), erythrocyte sedimentation rate (ESR), folate levels, vitamin B12 levels, and liver function tests (LFTs). Results from the tests showed significant neutropenia with a neutrophil count of 0.8 x 109/L. The patient's folate level was greater than 54.0 μg/L and vitamin B12 level was 269 pg/mL, meaning both results were within normal limits.\\nThe patient returned two days later with the rashes having become more erythematous and extensive. The rashes were now present on both ears and on the left side of the face in addition to the shins and abdomen. The patient was sent to the hospital where during the admission she was given a stat dose of filgrastim and was commenced on prednisolone and discharged. Punch biopsies of rashes were taken to aid with diagnosis.\\nThe patient returned to the clinic 25 days following the start of the prednisolone treatment and the rashes had disappeared and neutropenia had resolved.\nOUTPUT:" }, { "from": "agent", "value": "Leukocytoclastic Vasculitis, Rheumatoid Arthritis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 10-year-old girl presented with high-grade intermittent fever with cough for 20 days and a generalized rash for 15 days following ingestion of phenobarbital for 6 weeks. There was h/o seizures with fever from the age of 18 months, but the severity and frequency of seizures started increasing, occurring even without fever for which she was put on oral phenobarbital.\\nOn admission, we found that the girl was toxic, febrile, icteric, with tachypnea, tachycardia, conjunctival congestion, stomatitis, and cervical, axillary and inguinal lymph node enlargement. There was a diffuse erythematous, maculopapular rash without vesiculation or blistering []. There were bilateral diffuse crepitations over the chest and tender hepatomegaly.\\nInitial investigations showed leukocytosis, eosinophilia (absolute eosinophil count: 1586/dl), high bilirubin, elevated liver enzymes, microscopic hematuria and minimal pyuria. Imaging studies revealed hepatomegaly with features of hepatitis, mild pericardial effusion on echocardiography, and features of diffuse pneumonitis. Initial blood culture and urine culture were negative.\\nThe patient was put on empirical antibiotics and other supportive measures. Antibiotics were changed and steroid (i.v. dexamethasone) was added on persistence of fever and dyspnea, following which there was a short period of improvement. The patient had intermittent high spiking fever. A repeat blood culture showed growth of Acinetobacter baumanii and we switched over to sensitive antibiotics. But the general condition deteriorated and the patient developed ARDS for which she was ventilated. She improved dramatically and was extubated after 6 days. The girl again developed fever and dyspnea 2 days postextubation. There were findings of ARDS and pneumothorax on chest X-ray. She was ventilated again but succumbed after 5 days.\nOUTPUT:" }, { "from": "agent", "value": "DRESS syndrome, Sepsis, Acute respiratory distress syndrome, Pneumomediastinum" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 40-year-old male patient presented to the emergency room of our hospital with a history of left frontal headache, which was severe in intensity and pressure-like in quality and associated with significant acute decrease in visual acuity and vomiting for 3 days. He was seen at a local hospital before being referred to us as they lacked the facilities and expertise to perform neurosurgical intervention. At the local hospital, proper radiological surveillance was performed for him that showed a sellar-suprasellar lesion with optic chiasm compression and hemorrhagic foci. On physical examination, the patient was conscious, alert, and oriented to time, person, and place with a Glasgow coma score (GCS) of 15. He had bilateral light perception but denied any noticeable visual loss prior to the event as he was able to see and drive his own car. The visual field was difficult to be assessed, and there was no evidence of papilledema. Right third nerve palsy was also noted. These findings were confirmed by our ophthalmology team. He was also seen by our endocrinology team where he was given stress dose of hydrocortisone. Urgent magnetic resonance imaging (MRI) brain was done that showed 3 × 2.8 × 2 cm irregular lesion involving the sellar-suprasellar area, extending to the right cavernous sinus and showing irregular high signal intensity on T1 and correspondingly low signal intensity on T2, keeping with acute hemorrhage. The optic chiasm was dislocated and stretched by the lesion, and there was remolding of the roof of the sphenoid sinus [].\\nThe patient was taken to the operating room 3 days after his symptoms started and on the same day of his admission to our institution. The lesion was heterogeneous in consistency, ranging from firm and rubbery to friable and hemorrhagic. Postoperative MRI showed good resection of the tumor with residual [].\\nThe patient recovered well and reported progressive improvement of his vision in both the eyes few hours after the surgery. He was revaluated by the ophthalmology team 3 days after the operation. He had complete recovery of his vision and his third nerve palsy.\nOUTPUT:" }, { "from": "agent", "value": "Pituitary apoplexy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 54-year-old man with a 20-year history of poorly controlled human immunodeficiency virus (HIV), secondary to medication non-compliance, presented with an eight-day history of fever, malaise, and acute worsening of chronic watery diarrhea with melena. Vital signs were significant for heart rate of 112 beats per minute, blood pressure of 96/36 mmHg and fever to 100.4 Farenheit. Hemoglobin was 9.9 g/dL (14 - 18 g/dL), which was decreased by 3 g/dL from patient’s baseline; blood urea nitrogen and creatine was 48.6 mg/dL and 1.12 mg/dL respectively; and serum Helicobacter Pylori IGG was negative.\\nEsophagogastroduodenoscopy (EGD) was performed and showed 4 irregular ulcers in the stomach with the largest one notable for red-pigmented lesions within the ulcer (). Bipolar diathermy (bicap) was applied to 3 of the 4 ulcers and 3 endoclips were applied to the largest ulcer. The antral mucosa was moderately erythematous and the duodenal bulb and second part of the duodenum had patchy friable mucosa. Biopsies were obtained from the stomach and duodenum. H&E staining showed extracellular round to ovoid organisms, some of which had surrounding halo type clearing (). A mucicarmine stain highlighted the mucopolysaccharide capsule, consistent with C. neoformans (). A Grocott Methenamine Silver (GMS) stain decorated the fungal organisms and showed some narrow based budding (). Further testing revealed disseminated C. neoformans in the blood and cerebrospinal fluid. Patient was treated with amphotericin B followed by fluconazole as well as intravenous pantoprazole for treatment of C. neoformans and gastric ulcers. Unfortunately, he had a prolonged hospital course that was complicated by sepsis requiring broad spectrum antibiotics, intravenous fluid resuscitation and vasopressors. His clinical condition progressively deteriorated with worsening mental status and eventually passed away secondary to multisystem organ failure.\nOUTPUT:" }, { "from": "agent", "value": "Gastroduodenal Cryptococcus, AIDS" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 5-year-old girl, with normal milestones since birth, was brought to casualty with complaints of sudden onset of vomiting, slurring of speech and difficulty in walking. General physical examination revealed left sided spastic hemiparesis, unequal sluggishly reacting pupils with E2V1M3. She was stabilized and subjected to a contrast-enhanced magnetic resonance imaging (CEMRI) whole brain, which revealed a neoplastic process involving the left pons and the left middle cerebellar peduncle including the cerebellopontine angle (). The exophytic component of the tumor was seen extending into the mid brain and medulla causing mass effect.\\nShe was taken up for emergency surgery and left sided retrosigmoid sub-occipital craniotomy with excision of the pontine tumor was done under general anesthesia.\\nHistopathological examination revealed a cellular tumor with variegated appearance composed of neoplastic astrocytes arranged in sheets with a fibrillary background in some places. The tumor cells show marked pleomorphism with scattered giant bizarre uninucleate and multinucleate tumor cells. Most of the tumor cells had round to irregular pleomorphic hyperchromatic nuclei with prominent nucleoli in some cells. Frequent mitoses and foci showing microvascular proliferation were also present, suggestive of GBM, World Health Organization (WHO) grade IV. In view of young age and the rarity of these tumors in children, immune histochemical examination was performed to confirm the histopathological diagnosis. Immunohisto-chemistry (IHC) was done using standard protocols as per the manufacturer’s instructions. Ready-to-use primary antibodies were procured from Biogenex Laboratories Inc, USA. The polymer detection kit was obtained from Leica Microsystems, UK. Appropriate positive and negative controls were used and were found to be satisfactory. The tumor cells were diffusely positive for glial fibrillary acidic protein and vimentin, focally positive for epithelial membrane antigen and cytokeratin, and negative for CD99 and spinal muscular atrophy. The Ki67 proliferative index was 60% prompting towards a highly aggressive tumor. IHC findings confirmed the diagnosis of GBM (). The patient was planned for adjuvant treatment in the form of chemoradiation with concurrent temozolomide, however, the patient did not come for further treatment and hence, post-operation imaging could not be done.\nOUTPUT:" }, { "from": "agent", "value": "Pediatric Glioblastoma Multiforme" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 71-year-old male originally from Kazakhstan presented with symptoms already progressive for 2 years, especially burning pain, tingling paraesthesia, and disturbed thermosensation in his feet and distal lower legs and also gait and postural disturbance. In the last 18 months before presentation at our outpatient clinic, he had lost 17 kg of body weight without any obvious reason. Approximately 2 years prior, a renal cell carcinoma had been treated by partial nephrectomy. Additionally, magnetic resonance imaging had raised suspicion of hypertrophic cardiomyopathy. A biopsy of the sural nerve had shown a severe neuropathy without providing insight into its specific pathogenesis, and amyloid deposits had not been detected in congo red staining (including fluorescence) as well as in an additionally conducted salivary gland biopsy. Cardiac involvement was verified by myocardial biopsy. Finally, two and a half years after symptom onset, treatment with tafamidis was initiated and continued for almost 2 years now. Molecular genetic testing revealed the patient’s daughter to be an asymptomatic carrier of the same amyloidogenic mutation, whereas his son had no mutation.\nOUTPUT:" }, { "from": "agent", "value": "Hereditary Transthyretin Amyloid Polyneuropathy, Parkinson's Disease" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient was a 28-year old woman primipara with c/s 7 years ago. She came to our clinic with a history of abnormal uterine bleeding from 2 years before. So, she was undergone curettage due to diagnosis of incomplete abortion. The left adnex was normal and there was a mix echo lesion in 17×24 mm diameters with an echolucency area around it with 14 mm diameter in right ovary (). It had abnormal circulation in color Doppler and was suspicious to aneurism. In physical exam the abdomen was soft without any tenderness or palpable mass although the patient was obese and it had made the exam of her abdomen and adnexes difficult.\\nIn her MRI report there was an approximately 23×17 mm mass separable from right ovary with T1 low and T2 high signal. No fat signal is seen in the mass. There was also no evidence of aneurism. The patient was undergone laparoscopy and hysteroscopy due to pain and complex adnexal mass and abnormal uterine bleeding. In laparoscopy the left adnex was normal. The pathology report of tubal mass was ghost of chorionic villi compatible with degenerated products of conception. Three months later the patient was good with no pain in her lower abdomen. We obtained informed written consent from this patient and the next one to use her data in our report.\nOUTPUT:" }, { "from": "agent", "value": "Ectopic Pregnancy, Endometrial Polyp" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 62-year-old man (height 156.7 cm, weight 43.8 kg, body surface area 1.40 m2) presented at our affiliated National Hospital Organization Saitama Hospital in September 1999 with orthopnea after 2 months of dyspnea on exertion and palpitation. He had histories of hypertension and brain infarction. After treating acute heart failure, he was scheduled for surgery in November 1999. MVR was decided due to degeneration and existence of MAC. Anterior leaflet was resected, leaving the posterior leaflet preserved. 2–0 polyester pledgeted mattress sutures were placed on the posterior leaflet itself to plicate it twice. Most of the sutures did not penetrate the MAC, leaving it intact (Figure \\nB). The sutures were passed through an equine pericardium, and then through the cuff of a standard 25-mm Carbomedics Mitral Valve (Sulzer Carbomedics Inc., Austin, TX, USA). The equine pericardium was sutured to the left atrial wall (LA) with 4–0 polypropylene running stitches to cover the MAC (Figure \\nC). The anterior side of the artificial valve was sutured to the annulus with conventional everting mattress stitches.\\nFigure \\nA shows a cross-sectional view of the sutured posterior leaflet area. The plicated posterior leaflet and the equine pericardium are placed under and outside the cuff in order not to obstruct closure of the disc.\\nPost-operative course was without significant problems. Since discharge, he has been followed-up for 13 years. He is enjoying a normal life without major symptoms. A recent transthoracic echocardiogram showed no perivalvular leakage (Figure \\nB) and no problems around the pericardial patch.\nOUTPUT:" }, { "from": "agent", "value": "Mitral annular calcification, MR and atrial fibrillation" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 76-year-old woman who had previously visited a clinic for a common cold when she was 50 years old was diagnosed with iron deficiency anemia at that time. She was unable to swallow tablets, so she received i.v. iron infusion. From the age of 75 years she had had dysphagia and had gradually become unable to eat. She was admitted to our hospital. No suicide attempt or corrosive esophagitis was recorded. Physical examination showed no abnormal findings. Laboratory findings on admission showed hypoalbuminemia and normocytic normochromic anemia. Esophagoscopy showed no visible lumen at the piriform recess and deeper insertion was unfeasible (Fig. a). Esophagography showed a smooth circumferential stricture at the level of the lower margin of the sixth cervical vertebra (Fig. When a hypopharyngeal view was secured with a curved laryngoscope, the post-cricoid part was seen to adhere to the posterior wall of the hypopharynx. At the pointed end of the piriform recess, it was impossible to insert the tip of the IT-knife (Fig. b). When the IT-knife was applied to the pharyngeal adhesion for an incision (Fig. e). f), and the procedure was completed without perforation or bleeding. In order to prevent restenosis, an 18-Fr gastric tube was inserted. Hydrocortisone sodium succinate 300 mg was given for 3 days for mild laryngeal edema. From postoperative days 7 and 9, she started drinking and taking fluid meals, respectively. On day 9, the gastric tube was removed and oral steroid at 20 mg/day was started to prevent stricture; subsequently, the dose was gradually decreased by 5 mg per week. No prophylactic balloon dilatation was done. Esophagography 12 months after the endoscopic incision showed alleviation of the stricture (Fig. b). She has now taken meals without limitations for 18 months after surgery.\nOUTPUT:" }, { "from": "agent", "value": "Esophageal web" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Height of the man was measured as 187 cm and his weight as 90 kg. External examination showed no sign of trauma. Autopsy results are discussed below. Left and right lungs weighed 600 g and 760 g, respectively. Left atrium and ventricle showed chamber dilation. Heart showed abnormalities, including dilated cardiomegaly (cor bovinum, 520g in weight) and giant mitral valve (17 cm in length). No atherosclerotic plaque was found in coronary arteries. No remarkable changes were seen in other organs. Histopathological examinations showed elastic degeneration in spongiotic area, minimal inflammatory elements in mitral valve, nodular fibrosis of chordae tendinae, nucleomegaly, thickening and disorientation of fibers, fibro-hyalinization, and focal mononuclear inflammatory and degenerative cardiomyopathic changes to myocardium (, ).\\nStudy material for genetic screening of cardiomyopathies was selected from case database at the Department of Forensic Medicine, Near East University (NEU), upon a request from the local police department. After deoxyribonucleic acid (DNA) isolation process was performed by genetics department, samples were sent to GENetic DIAgnostic Network (GENDIA) for further DNA analyses. Next-generation sequence analysis of coding regions of 40 genes involved in cardiomyopathy and Sanger sequencing confirmation were conducted by GENDIA. Novel missense mutations were identified both in SGCD and TTN genes analyzed. A heterozygous SGCD:c.15G>C a variant with unknown significance (VUS) in exon 3 of SGCD gene, and a heterozygous TTN:c.21758T>C VUS in exon 89 of TTN gene were identified. Primary genetic counseling was given to his ex-wife and two sons, who were the only family members available at that time.\nOUTPUT:" }, { "from": "agent", "value": "Hypertrophic and dilated cardiomyopathy, Sudden cardiac death" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: There were no other fresh complaints and present biochemical investigations were with in normal limit. She had taken her last meal 3 hours back, so we waited for the next 5 hours for her fasting status to complete. In past history, she had episodes of repeated pneumonias in her early childhood with repair of right-sided diaphragmatic eventration at 2 years of age. At present, she had no complaint of respiratory tract infections or signs of respiratory compromise and had good functional capacity as per parents (METS >4).\\nSurgery was planned under general anaesthesia with controlled ventilation after completing an adequate NPO status (8 hours) and keeping in mind the coexisting conditions of child. We had kept a difficult intubation cart ready. Induction of anaesthesia was done with inj. Fentanyl 30 mcg and inj. Propofol 30-40 mg intravenously. After ensuring an adequate bag and mask ventilation inj. vecuronium 1.5 mg was administered. We secured the airway with PLMA# 2 (second generation supraglottic device) and ensured an optimal ventilation. However, soon after securing airway food particles were encountered in orogastric tube inserted via gastric drain tube of PLMA. An immediate head low was done and a continuous suction was attached to orogastric tube to decompress gastric contents. Under continuous suction and direct vision using a videolaryngoscope PLMA was removed and trachea was secured with cuffed ETT #5. Patient's vital remained stable and surgery was proceeded with following which child was extubated successfully. Intraoperative and postoperative period was also uneventful.\nOUTPUT:" }, { "from": "agent", "value": "Aarskog Scott Syndrome, traumatic corneal perforation, atrial septal defect, hiatus hernia" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 43-year-old woman presented with a red to purple indurated plaque approximately seven cm in diameter and located on the left arm, without associated symptoms. This plaque had multiple umbilicated papules with central keratin-filled plugs arranged in arcuate groups (, arrow). She had been taking antihypertensive drugs intermittently and had no history of diabetes mellitus, chronic renal failure, or trauma.\\nLiver function tests disclosed the following values: aspartate aminotransferase (AST), 74U/L (normal value: less than 38U/L) and alanine aminotransferase (ALT), 79U/L (normal value: less than 41U/L). However, CBC, BUN, creatinine, serum electrolytes, serum glucose level, antinuclear antibody, and urinalysis were negative or within normal ranges.\\nBiopsy specimens from the lesions were stained with hematoxylin-eosin, Masson trichrome, Verhoeff-van Gieson and Periodic Acid-Schiff. These specimens showed a central cup-shaped depression area of the epidermis that contained a solid mass of hyperkeratosis and dense parakeratotic keratinous material (). The epidermis at the base of the crater was ulcerated. The borders of the fat lobules were lined by a thin eosinophilic layer of protein that had fine feathery projections in the fat cavity. The membranes of the microcysts stained positively with Periodic Acid-Schiff stain (). There was a moderate infiltration of lymphohistiocytes in the dermis and panniculus. In addition to these histopathologic findings, the blood vessels in the dermis and subcutaneous fat layer showed infiltration of the vascular walls by lymphohistiocytes, swelling of the endothelial cells, an increase in vascular wall thickness, and narrowing of the lumen ().\nOUTPUT:" }, { "from": "agent", "value": "Membranous Lipodystrophy, Hypertension, Transepidermal Elimination" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 26 year old male presented with unsteady gait after he was knocked out in a boxing match. He was wearing a protective headgear however it slid during the match and subsequently, multiple strikes were sustained to the face and head. On arrival to the emergency department he was afebrile, heart rate was 123 beats/minute, blood pressure was 123/78 mmHg, and respiratory rate was 18 breath per minute. Physical examination of chest, heart and abdomen was within normal limits. Neurological examination has been summarized in . He was awake with Glascow Coma Scale score (GCS) of 14 but had some memory impairment. His metabolic panel revealed Blood Urea Nitrogen (BUN) of 26 mg/dl, Creatinine (Cr) of 4.39 mg/d, creatinine phosphokinase (CPK) > 160,000U/L, potassium (K) of 8.1mEq/L and lactate of 5.8 mmol/L. Electrocardiography (EKG) revealed normal sinus rhythm with first degree atrioventricular block. EKG later revealed atrial fibrillation. Patient was subsequently intubated due to worsening mental status and acute respiratory failure. Continuous veno-venous hemodialysis (CVVHD) was initiated to manage acute renal failure, hyperkalemia and rhabdomyolysis. Neurosurgery performed ventriculostomy with drain which revealed clear cerebrospinal fluid that jetted out under pressure. Following ventriculostomy, the patient was noted to have absent brain reflexes with fixed and dilated pupils. Neurology evaluated the patient and declared him brain dead after positive apnea test.\nOUTPUT:" }, { "from": "agent", "value": "Bilateral Cerebellar Hemorrhage" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 32-year-old male individual, an old treated case of tuberculous lymphadenitis presented to the medicine outpatient department with chief complaints of progressive breathlessness, weight loss and low-grade fever on and off for 3 months.\\nOn examination, multiple bilateral cervical, axillary and inguinal lymph nodes were present, the largest of them involving the axillary group measuring 3 × 2 cm. The lymph nodes were firm, non tender and discrete. Multiple pustular skin lesions were seen over the anterior abdominal wall. He also had hepatomegaly measuring 3 cm below the right costal margin. There was decreased air entry in the right lung base. The liver function tests were normal. Renal parameters showed elevated (4.9 mg/dl) serum creatinine level. Chest radiograph showed miliary mottling and right pleural effusion suggestive of tuberculosis; ultrasonography of the abdomen showed hepatosplenomegaly and enlarged para-aortic lymph nodes. Serological workup for HIV was found to be reactive.\\nFNAC of the axillary and cervical lymph nodes were done. Routine examination with May-Grünwald-Giemsa (MGG) [] and hematoxylin and eosin (H and E) stained smears demonstrated numerous spherical yeast cells of variable size with occasional budding forms surrounded by a clear halo suggestive of a capsule, lymphocytes and histiocytes in a necrotic background. No epithelioid cells were seen. No acid-fast bacilli were seen on Ziehl-Neelsen-stained smears. The possibility of cryptococcal infection was considered based on the above findings.\\nThick capsule was demonstrated on India ink preparation [] which was further highlighted by mucicarmine stain, imparting it a red color. Other special stains used to demonstrate the yeast forms were Periodic acid Schiff stain (PAS) and Gomori's silver methenamine stain [].\\nCryptococcus was also demonstrated in the patient's skin lesions from skin scrapings and bone marrow aspiration including biopsy. The definitive diagnosis of C. neoformans was proven by isolating the fungus from the lymph node aspirate culture.\nOUTPUT:" }, { "from": "agent", "value": "Disseminated cryptococcosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Man, 52 years old, rural worker, infected with HIV, with severe immunosuppression due to\\nthe irregular treatment with antiretroviral drugs. He has presented for 2 months poor\\ngeneral condition and verrucous lesions throughout integument, predominantly in the face\\nand trunk (). Examination showed\\npancytopenia and renal dysfunction (creatinine clearance 27 ml/min). Chest tomography\\nrevealed diffuse accentuation of the lung interstitium. Pathological examination (HE)\\nshowed epidermis with central ulceration, necrosis and numerous macrophages with clear\\ncytoplasm and oval structures (). Grocott\\nstain was positive for Histoplasma (). Direct mycological examination revealed fungal structures\\ncompatible with Histoplasma. Culture was performed from skin biopsy\\nsample in Sabouraud-dextrose agar, at room temperature. On macroscopic examination white\\ncotton-wool spots colonies were observed and, on microscopic examination, presence of\\nhyphae, with rounded microconidia and macroconidia, was noted ( and ). Myeloculture\\nand blood culture for fungus also showed the presence of Histoplasma capsulatum\\nvar capsulatum. Serology for specific antibodies was negative for the\\nfungus. During hospitalization, the patient developed febrile neutropenia and therapy\\nwith Cefepime, Granulokine and reintroduction of antiretrovirals was started. CD4 was 7\\ncel/m and viral load was\\n598,342 copies. A chemoprophylaxis with trimethoprim-sulfamethoxazole and azithromycin\\nwas performed. Therapy adopted was Itraconazole - 200 mg 3 times daily for 3 days in a\\nrow followed by 400 mg/day. It was of utmost importance the reintroduction of\\nantiretrovirals, which led to an CD4 increase.\\nThe evolution of the case was satisfactory, with progressive improvement soon after the\\ninstitution of specific antifungal treatment. After monitoring for 11 months, the\\npatient had a weight gain of 20 kilos, clinical resolution of all lesions and\\nimprovement in general condition ().\nOUTPUT:" }, { "from": "agent", "value": "Histoplasmosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: She had a history of gestational diabetes in the previous year. Her family history was significant for type 2 DM from the first degree. There were initially no respiratory tract or gastrointestinal symptoms. Her temperature was 38.5 °C, with a respiratory rate of 18 breaths per minute, heart rate of 87 beats per minute, blood pressure of 125/82 mmHg, and oxygen saturation of 97% on room air. There was no respiratory distress and the lungs were bilaterally clear to auscultation. The cardiac and abdominal exams were also normal. Her BMI was 21.7 kg/m2. She was admitted to the hospital due to the lack of proper home self-isolation.\\nOn the second day of admission, she developed episodes of vomiting associated with dry cough and dyspnea. She was still pyrexial at 38 °C, oxygen saturations were maintained at 97% on room air, and the respiratory rate was 25 breaths per minute. Her chest was clear on auscultation and cardiovascular and abdominal exams were unremarkable. Serological investigations revealed a high anion gap metabolic acidosis, hyperglycemia with a random blood glucose of 24 mmol/L, and ketonemia (Table ). She denied any weight loss, polyuria, or polydipsia. She was diagnosed with DKA and treated as per hospital protocol with intravenous fluids and continuous insulin infusion at 0.1 unit/kg/hour with hypokalemia correction. She was also initiated on antibiotic therapy with ceftriaxone and azithromycin as her chest x-ray revealed bilateral infiltrates (Figure ). After resolution of the DKA, she was shifted to a subcutaneous insulin regimen on day 3. On day 10, she completed the antibiotic course and was discharged home on subcutaneous insulin (insulin glargine 20 units once daily and insulin aspart 10 units three times daily) with a negative RT-PCR swab result.\nOUTPUT:" }, { "from": "agent", "value": "New-Onset Diabetes Mellitus, Diabetic Ketoacidosis, COVID-19" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Nausea, vomiting, weakness, and lethargy.\\nA 47-year-old woman with a history of alcoholic cirrhosis status post OLT and a complex post-transplant course had elevated liver function tests (LFTs) 69 d post-transplant.\\nThe patient has a history of decompensated cirrhosis secondary to alcohol use underwent OLT at our institution. Her Model for End-stage Liver Disease score was 33, and she received a liver allograft from a 61-year-old deceased donor who died from complications of a cerebrovascular accident. The arterial anastomosis was formed between the donor celiac axis and a branch patch of the recipient’s proper hepatic and gastroduodenal arteries. Initial graft function was good. Post-transplant course was complicated by failure to thrive, pneumonia with respiratory failure, intractable nausea and vomiting, and chronic kidney disease on dialysis. She remained an inpatient during her convalescence, and on POD #69 she developed newly elevated LFTs.\\nVitals: within normal limits; General: Alert, oriented, and cooperative; Neck: Tracheostomy in place, healing well; Heart: Regular rate and rhythm, no murmurs; Lungs: Clear to auscultation, mildly decreased lung sounds at bases; Abdomen: Soft, non-tender, bowel sounds normal, no masses, no organomegaly, chevron incision. A liver biopsy showed no evidence of acute T-cell mediated rejection, biliary obstruction, or ischemic injury.\nOUTPUT:" }, { "from": "agent", "value": "Hepatic artery stenosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient underwent stimulation using a combination of 225 IU/day recombinant follicle stimulating hormone with gonadotropin-releasing hormone antagonist. Thirty-six hours following human chorionic gonadotropin (hCG) injection, 12 oocytes were retrieved, 11 oocytes were inseminated, and 8 were fertilized.\\nOne day after egg retrieval, the patient presented to our office complaining of severe left lower quadrant pain, associated with nausea and vomiting. Her vital signs were stable and abdominal exam revealed mild left lower quadrant tenderness with no rebound or guarding. Transvaginal sonogram () showed left ovary measuring 75 × 55 mm, right ovary measuring 71 × 43 mm, mild free fluid, and normal Doppler blood flow to both ovaries. Her white blood cell count was 20.4 × 103 cells/μL with 90% neutrophils. The left ovary was found to be twisted 180° around the infundibulopelvic ligament and had a viable pinkish color. The left ovary was untwisted successfully and three small cysts were drained. She opted to proceed with fresh embryo transfer. On day five following egg retrieval, four blastocysts were transferred under transabdominal ultrasound guidance. Subsequent sonogram four weeks later confirmed a viable six-week intrauterine singleton gestation. She had a vaginal delivery at 41-week gestational age after induction of labor.\nOUTPUT:" }, { "from": "agent", "value": "Secondary infertility, Combined male and tubal factor infertility, Left ovarian torsion" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient written the informed consent and this study was approved by the Ethics Committee and institutional Review Board of the second hospital of Jilin University (JDEY-2018-0045), Changchun, China.\\nIn January 2017, a 77-year-old male patient visited our hospital for blood in the stool for 10 days. The local hospital colonoscopy result revealed a mass in the rectum with 10 cm from the anal verge and multiple polyps of different sizes less than 0.6 cm in diameter in the lower rectum (Fig. The computed tomography (CT) shows an irregular mural thickening involving the rectum. No lymphadenopathy or distant metastasis was found. Tumor biomarkers, including carcinoembryonic antigen (CEA), carbohydrate antigen19-9 (CA-199) and á-fetoprotein (AFP) were all in normal range. However, in the resected rectum specimen, a GIST (0.4 cm in diameter) was incidentally found and classified as spindle cell subtype by morphology characteristics (Fig. ). According the National institutes of Health (NIH) consensus criteria (Fletcher criteria),[ its malignant potential grade was assessed as very low risk.\\nThe immunohistochemistry showed the PMS2 (+), EGFR (+), CDX2 (+), CD 117 (+), CD 34 (+), DOG 1 (+). Resection margins were negative and all 15 lymph nodes harvested were all negative for malignancy. The postoperative recovery of patient was uneventful. He only took oral treatment with Capecitabine tablets for 6 courses, and there was no local recurrence after 1 year of CT scan. However, not long after the CT examination, he died of cardiovascular disease.\nOUTPUT:" }, { "from": "agent", "value": "Rectal adenocarcinoma, Microscopic gastrointestinal stromal tumor" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 65-year-old male was referred to our hospital with a suspected metastatic brain tumor on head magnetic resonance imaging and difficulty in mobilizing the right upper limb. CT revealed a right renal mass and multiple lung metastases. One week after the first dose, edema of both lower legs developed (Fig. ). At the end of the second course, axitinib was discontinued due to proteinuria (grade 3) and the development of hand-foot syndrome (grade 2). At this point, CT scan showed mild shrinkage of the right renal tumor and multiple lung metastases. The sixth course of pembrolizumab was canceled due to loss of appetite and the patient was admitted to the hospital with urgent complaints of edema of the lower legs. At the time of admission, blisters appeared on the lower extremities and dorsum of the right foot. The blisters enlarged, and the beds of the blisters became ulcerous (Fig. ). Immediately after admission, skin biopsy was performed on the erythema of the right lower leg. Histopathological examination revealed septal panniculitis (Fig. ), pustules (Fig. ), and perivascular lymphocytic and neutrophilic infiltration (Fig. ) of the skin. Based on these various pathological findings and the progression of clinical findings, irAEs were strongly suspected. Oral prednisolone treatment (30 mg/day) was immediately started and gradually tapered as symptoms improved (Fig. ). Nine months after the onset, the skin lesion was smaller and almost epithelialized. As a second-line treatment, the patient underwent cytoreductive right radical nephrectomy.\nOUTPUT:" }, { "from": "agent", "value": "Metastatic Renal Cell Carcinoma, Stasis Dermatitis, Immune-related Dermatitis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient was a social drinker, had a medical history of pulmonary emphysema, and took several medications for this disease.\\nHe was treated with 180 μg of peginterferon-α-2a in 2005. However, the therapy was discontinued because he was diagnosed with drug-induced interstitial pneumonia. At the end of 2014, enhanced abdominal computed tomography (CT) findings showed no HCCs in the liver and no ascites, and the patient was treated with 60 mg of daclatasvir and 200 mg of asunaprevir at the beginning of 2015. However, this treatment was discontinued at 2 weeks because of cough and nasal mucus []. These symptoms disappeared immediately after stopping this medication.\\nThe patient wanted to be retreated for his chronic hepatitis C; thus, he was retreated with sofosbuvir (400 mg daily) plus ledipasvir (90 mg daily) at the end of 2015. Laboratory data before retreatment are shown in Table . HCV NS5A-L31 and NS5A-Y93 sequencing using a real-time PCR system and cycling probe assay [] revealed no evidence of HCV NS5A RAVs. He received the full doses of sofosbuvir and ledipasvir for 12 weeks and no adverse events were observed. The eGFR did not change during the therapy. Serum HCV RNA was not detected at week 4 after the commencement of treatment, and it remained undetectable until the end of the treatment. He achieved SVR12 [].\nOUTPUT:" }, { "from": "agent", "value": "HCV GT-1b infection, Hepatocellular carcinoma (HCC), Cirrhosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: She had a medical history of hypertension treated with an ACE inhibitor (ramipril 2.5 mg every 8 hours) and a beta-blocker (metoprolol 100 mg every 12 hours), and previous episodes of nephrolithiasis which always resolved with medical treatment. The patient did not have any harmful habits or chronic pulmonary disease.\\nAt admission the patient had severe acute chest pain. Physical examination revealed a normal BMI, blood pressure and body temperature, but increased heart and respiratory rates of 110 beats/minute and 22 breaths/minute, respectively. The abdomen was painful, but soft with no palpable mass. An electrocardiogram showed a regular sinus rhythm with normal ventricular repolarization.\\nBlood arterial gas analysis revealed respiratory alkalosis and hypoxaemia (PaO2/FiO2 250 mmHg), and a high A-a gradient (61.3 mmHg instead of the 17.5 mmHg expected for age) suggesting an oxygen transfer/gas exchange problem. No rib fractures were detected.\nOUTPUT:" }, { "from": "agent", "value": "Diaphragmatic Rupture, Gastric Perforation, COVID-19 Pneumonia" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 4-year-old boy presented to his pediatrician during late August after an unwitnessed fall playing in his yard. The family lived in a rural wooded area in Pennsylvania. The child was otherwise healthy, no allergies, no medications, no medical illnesses, and one prior surgery—a tonsillectomy. He lives at home with his mother, father, and 3 older siblings. He attends preschool 2 days per week. The skin exam was otherwise negative. The patient was then referred to the orthopaedic office. Due to the constellation of findings and lack of a witness to the fall, the pediatrician also reported the child to the local County Social Services for Children and Youth due to possible nonaccidental trauma. On careful inspection by the orthopaedic surgeon of the buttock bruising, the skin lesion resembles a “bull's-eye rash”. The mom could not recall if her child had any tick bites; however, the family lived in an area with a large deer population. The knee effusion and the buttock rash had resolve.\nOUTPUT:" }, { "from": "agent", "value": "Lyme disease, Radius fracture" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 70-year-old male, without any significant medical history or prior bleeding diathesis, presented with hematuria, for which he was referred to the urologist. Extensive investigations did not reveal a cause of bleeding. In the following weeks, he developed spontaneous large cutaneous hematomas on the arms, left leg, and a painful calf. Physical examination showed multiple large hematomas and a swollen painful left calf muscle, suspected for a muscle bleed. In addition, several enlarged inguinal lymph nodes were noted. Laboratory results showed an activated partial thromboplastin time (APTT) of 70 seconds (normal: 22–32 s) and a normal prothrombin time. A mixing experiment with 1:1 patient:normal plasma revealed no normalization of the APTT (53 s). Determination of individual intrinsic coagulation factors showed a FVIII:C activity of <0.01 U/mL. vWF antigen and activity were normal. A titer of anti-FVIII antibodies was 71 BU. This confirmed the diagnosis of AHA. He was successfully treated with factor eight inhibitor bypassing activity 50 U/kg twice daily for hematuria and the muscle bleed. Immunosuppressive treatment was started with prednisone in a dose of 1 mg/kg. Additional investigations revealed increased immunoglobulin M (IgM) (2.95 g/L [normal 0.45–2.30 g/L]) and an IgM monoclonal protein, which was not quantifiable. CT scan revealed generalized lymphadenopathy. A lymph node biopsy was not performed because of the severe bleeding tendency. He was treated with 8 courses of R-CVP (rituximab, cyclophosphamide, vincristine, and prednisone). This resulted in a gradual decrease of the anti-FVIII titer, rise of FVIII, and amelioration of the bleeding phenotype. CT scan after 8 courses of chemotherapy revealed a complete remission. The patient has been followed for 4 years and LPL is still in remission, without a recurrence of AHA.\nOUTPUT:" }, { "from": "agent", "value": "Acquired Hemophilia, Lymphoplasmacytic Lymphoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Both arms were supinated and rested upon the railroad tracks at the mid-forearm. In the field, it was reported that the train conductor witnessed the patient lying down with arms exposed and attempted to emergently stop the train. His attempts were futile, as the train traveling at a speed of approximately 35 mph resulted in the amputation of both upper extremities (below the elbow). Emergency medical services were notified immediately. The paramedics were successful in controlling the bilateral hemorrhage by applying tourniquets. After assessing no other obvious injuries, bulky sterile dressings were applied to the ends of the bones. The patient was then transported to the emergency department. Replantation of the limbs was not possible due to massive crushing and degloving of the amputated forearms.\\nX-ray imaging of the upper extremities demonstrated intact humerus bilaterally. Comminuted fractures were found on the remnants of the radius and ulna bones. Furthermore, no foreign bodies were visualized. The patient was immediately taken to the operating room (Figure ).\\nThe orthopedic and plastic surgeons consulted, jointly worked on the patient in the operating room. The elbow joints were observed to be intact and in proper anatomical alignment. Each arm was debrided at the stump until a determined viable tissue plane was found. Copious amounts of irrigation (nine liters per extremity) via pulse lavage were done. A soft tissue viable flap was then folded over to cover the exposed wound and stumps, after myofascial reconstruction/repair.\\nDuring the post-operative interview, the patient was not very cooperative and gave minimal information. However, the psychiatric consultants were able to extract some information from the patient. Apparently, she had severe depression with no prior suicide attempts. The patient then disclosed to the medical team that she felt this was a fool-proof means of lacerating her wrists. Furthermore, it was concluded that there were no inciting events that prompted her to attempt suicide. The patient refused management of her depression but was eventually transferred to the inpatient psychiatry unit due to the recent suicide attempt. Blood alcohol content and toxicology screen were both negative.\nOUTPUT:" }, { "from": "agent", "value": "Self-Inflicted Traumatic Bilateral Upper Extremity Amputation, dysthymia, MDD" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 10-year-old girl was evaluated by her dentist for a delayed eruption of the mandibular right first molar. During an oral examination, a bulging of the edentulous alveolar ridge was observed posterior to the partially erupted right mandibular first premolar and to the maxillary first molar (). Facial disfigurement due to the bulging of the right lower face was also noted. A physical examination revealed multiple cafe-au-lait spots in her neck, back, and axilla. The patient's mother also had cafe-au-lait spots on her right arm.\\nA panoramic radiograph showed two separate areas of radiolucency at the body-ramus of the right mandible and right posterior maxilla (). The teeth were impacted in the lesions. A computed tomography (CT) scan revealed two well-circumscribed radiolucent lesions and overlying cortical expansions at the mandibular bodyramus and posterior maxilla (). The maxillary lesion extended to the infratemporal space with destruction of the posterior maxillary wall.\\nAfter an incisional biopsy, surgical enucleations of the mandibular and maxillary lesion via intraoral approach were performed. The cells were intimately associated with wire-like strands of collagen. () The stroma of the tumor was dotted with occasional mast cells, lymphocytes, and small nerve fibers throughout the tumor. Most of the tumor cells were positive for S-100 protein on immunohistochemical staining (). Although the dental follicular tissue was largely separated from the tumor, the stromal portion of the follicle had a hyalinized background, instead of myxoid nature found in normal dental follicles. However, immunostaining for S-100 protein was negative on the follicle stroma.\nOUTPUT:" }, { "from": "agent", "value": "Intraosseous Nerve Sheath Tumors, Neurofibromas" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 17-year-old obese female presented with confusion and double vision. Her family reported that she had been dieting for the previous five months resulting in a 50-pound weight loss. Her diet mainly consisted of mashed potatoes with the recent addition of apple sauce in the last two weeks. In the week before admission, she had multiple presentations to an outside facility for evaluation of gastrointestinal issues like abdominal pain, headache, progressive confusion, and double vision.\\nShe denied nausea, vomiting, diarrhea, syncope episodes, but did acknowledge general fatigue. She denied intake of alcohol or other substances. Past medical or family history did not reveal any neurological or malabsorptive conditions. Neurology examination demonstrated an awake patient, oriented to person only, unable to answer the year, month, or date. Memory recall and repetition were impaired, but she had intact naming and speech fluency. Pupils were equal, round, and reactive to light and accommodation. Visual acuity was 20/20-3 bilaterally and the anterior chambers of the eyes were normal. No afferent pupillary defect noted. Extraocular movements demonstrated restriction in abduction and a slight decrease in adduction and depression bilaterally. While testing extraocular movements, vertical nystagmus was evident. On fundus examination, she had bilateral peripapillary retinal hemorrhages with intact optic disc margins (Figures , ).\\nMotor and sensory examination were unremarkable. Coordination of finger to nose testing demonstrated dysmetria bilaterally. Reflexes were graded at 0 at the biceps, brachioradialis, triceps, patellar, and ankle tendons. Plantar response was flexor bilaterally. Gait testing demonstrated a wide-based ataxic gait.\\nComplete blood count (CBC) and basic metabolic panel (BMP) were unremarkable. Her MRI brain demonstrated fluid-attenuated inversion recovery (FLAIR) hyperintensity in the periaqueductal gray matter, posterior medulla, mammillary bodies, and the medial thalami without edema or enhancement (Figures -).\\nThe remainder of the brain was normal in signal and morphology. Brain volume was normal for her age, and there was no abnormal enhancement.\\nThese findings supported the diagnosis of WE, and she was placed on intravenous thiamine followed by oral supplementation. The patient showed gradual improvement.\nOUTPUT:" }, { "from": "agent", "value": "Wernicke Encephalopathy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The\\nhemorrhage stopped, but the bullet was not located. A smooth friction\\nmurmur was present over the pulmonary artery (PA) trunk.\\nThe patient was transferred to a specialized thoracic surgical center where he underwent a\\nsecond intervention to extract the bullet. The intervention was performed without\\ncardiopulmonary bypass, under general anesthesia with non-selective intubation owing to the\\nlack of a double-lumen tube suitable for his age. Right antero-lateral thoracotomy was\\nperformed, and a rigid object was palpable inside the intermediate PA. Small hematomas were\\nvisible on the upper surface of the intermediate PA, and the PA and its branches were\\ncarefully dissected. After clamping the right PA, we performed an arteriotomy. The bullet\\nwas extracted from the artery with difficulty owing to its irregular shape (). The wall of the PA was\\nsutured with PDS 3.0 (Ethicon Inc., Somerville, NJ, USA) during heparin instillation. The\\npatient’s postoperative course was excellent.\nOUTPUT:" }, { "from": "agent", "value": "Gunshot wound to the left hemithorax, Hemorrhagic shock, Hole in the myocardium, Foreign body in the right hilum, Mild left pneumothorax, Contusion of the left lower lung lobe" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 77-year-old male with a past medical history of coronary artery disease status post coronary artery bypass grafting, hypertension, chronic obstructive pulmonary disease, diabetes mellitus type 2, and cerebrovascular accident presented to a local hospital with acute abdominal pain and bloating. A computed tomography (CT) scan of the patient's abdomen and pelvis was performed and showed intraabdominal bleed and multifocal liver lesions. Initial complete blood count (CBC) revealed a hemoglobin of 7 g/dL and he was transfused one unit of packed red blood cells prior to transfer to our institution. On arrival, CT angiogram of the abdomen and pelvis showed multiple dense, heterogeneous masses throughout the liver with associated perihepatic and intraperitoneal hemorrhage and areas of tumor blush were noted but no extravasation was seen to suggest active hemorrhage. There was also multiple enlarged periportal and upper mesenteric lymph nodes, likely representing metastatic adenopathy. There were no lesions present on the pancreas. CT chest was obtained and showed no evidence of intrathoracic metastatic disease. Initial blood work revealed normal liver function tests, appropriate response in hemoglobin to transfusion and negative viral hepatitis panel. Tumor markers revealed AFP elevation to 8705 ng/mL, normal Carcinoembryonic Antigen and Cancer Antigen 19-9. Magnetic Resonance Imaging (MRI) of the abdomen and pelvis showed multiple lesions throughout the liver with targetoid appearance. There was no evidence of cirrhosis and these lesions did not have imaging characteristics of typical HCC (Figure ). It was suspected the multifocal liver lesions were HCC given the elevated AFP. However, the MRI was not consistent with HCC and a liver biopsy was obtained. The patient had an unremarkable colonoscopy and esophagogastroduodenoscopy six months prior to presentation therefore, it was suspected the primary origin of NET was in the small bowel. Regarding the intraabdominal bleed noted on initial CT scan, this remained stable on repeat scans and surgery recommended conservative management. The planned chemotherapy regimen will be Carboplatin and Etoposide.\nOUTPUT:" }, { "from": "agent", "value": "Metastatic neuroendocrine carcinoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: In 2002, a 35-year-old male patient presented with multiple discharging sinuses on face for three years. Three years back, the patient had met with a vehicular accident which leads to lacerated wound on right side of face. Few weeks after the accident, the patient noticed pimple-like lesion at the site of wound. These lesions did not respond to local medications, rather went on increasing in number and size, and he went to a surgeon who excised the wound but the lesions recurred. Six months back, he was seen by a dermatologist and was diagnosed to have actinomycosis and was put on injection procaine penicillin for one month without any significant improvement. When the patient approached us, there were multiple tender fluctuant abscesses and discharging sinuses involving the frontal, temporal and small part of maxillary region with swelling of eyelids of right side []. However, there was no induration which is so characteristic of actinomycetoma. There were no grains.\\nLooking at this picture, the differential diagnosis considered were actinomycosis, tuberculosis and osteomyelitis and the patient was further investigated. Blood count, blood sugar, urine analysis were within normal limits. ELISA for HIV was negative and X-ray of skull showed no bony involvement ruling out the possibility of osteomyelitis. Gram staining of the pus showed Gram positive branching filaments which on modified Zeil-Nelsons staining (decoloring with 1% H2SO4) showed partial acid fastness indicating Nocardia []. The diagnosis was confirmed when culture on L- J media grew dry granular pigmented colonies characteristic of Nocardia species. So the patient was put on tab septran (trimethoprim 160 mg + sulfamethoxazole 800mg) - 2 tablets BD. and Incision and drainage of some abscesses was also done. After one and a half month, the patient showed good improvement but lost to follow up. When he came again in 2007 for unrelated problem (T.Cruris), the face showed healed deep scars []. On enquiring, the patient reported to continue the same treatment for further two months and as all the lesions were healed, he did not turn up for follow up.\nOUTPUT:" }, { "from": "agent", "value": "Primary Cutaneous Nocardiosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 51-year-old male, known case of Type II diabetes mellitus, hypertension and a chronic alcohol consumer in cirrhogenic doses, presented with fever and altered sensorium and yellowish discoloration of eyes and urine and myalgia for three days. The patient deteriorated showing confusion, aggressive behavior and altered sensorium without any motor deficit. On investigation, he was found to have deranged liver function tests. Chest X-Ray revealed bilateral homogenous opacities in the right lung, 2-D echo showed left ventricular hypertrophy. USG abdomen revealed hepatosplenomegaly with ascites and gall bladder wall edema. Tissue samples of lung, myocardium, liver, kidney, pancreas, spleen, adrenal glands, stomach and brain, were taken for histopathology investigation. On gross examination, the lungs were congested and boggy and liver was enlarged. The external surface was smooth with retained capsular sheen. Rest of the organs were normal. The selected specimens were formalin-fixed and paraffin-embedded. Sections were cut at three micra and stained using the standard H&E and special stains such as PAS, MT, reticulin Perl, ZN, van Kossa and Congo red were carried out wherever required. All slides were examined and photographed on a Nikon eclipse Ni microscope.\\nSections from the liver showed micro and macro-vesicular steatosis. Mild portal and periportal infiltrate composed of mononuclear cells was noted with a small fibrous expansion of the portal tracts. Bilateral kidneys showed mostly normal glomeruli. The tubulo-interstitium appeared unremarkable. Blood vessels showed intimal proliferation with onion skin appearance in some vessels. Cerebral hemispheres showed astrocytic swelling with a prominence of nuclei and nucleoli. Pons, medulla, and cerebellum showed normal histomorphology. To summarize, the salient post-mortem findings included diffuse alveolar edema with micro and macrovesicular steatosis and cirrhosis of the liver.\nOUTPUT:" }, { "from": "agent", "value": "Hepatic encephalopathy, Pulmonary alveolar microlithiasis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 58-year-old Caucasian male with past medical history of hypertension, hypertriglyceridemia, chronic atrial fibrillation, coronary artery disease (CAD) s/p coronary artery bypass graft (CABG), ischemic cardiomyopathy and past surgical history of pacemaker/defibrillator placement presented to our institution with complaint of shortness of breath for about a week prior to admission. In the emergency room, the patient was noted to be febrile. His heart rate and blood pressure, however, were acceptable. On the chest X-ray, he was noted to have bilateral infiltrates. He was hypoxemic on room air. Lab reports were notable for thrombocytopenia and leukopenia as well as marked elevation of his liver transaminases and an elevated CPK level. Values are trended in . The patient was started on non-invasive ventilation with BiPAP. The initial presumed diagnosis was diffuse bacterial pneumonia. He was started on broad spectrum antibiotic therapy.\\nThe patient's respiratory status continued to deteriorate and he was intubated. Throughout the course of hospitalization, spontaneous breathing and pupillary responses were intact; however, his gag and cough reflexes were absent. The patient was started on broad spectrum antibiotics. He developed acute renal failure early during hospitalization and hemodialysis was started. He later developed hypotension requiring the use of pressor medications. The patient remained thrombocytopenic and although he had no evidence of bleeding, platelets were transfused. He subsequently developed gastrointestinal bleeding secondary to stress ulceration as well as prior use of anti-platelet drugs and thrombocytopenia. The patient received multiple units of packed cells. Bone marrow biopsy was performed, which showed mildly hypocellular bone marrow showing mild increase in histiocytes with hemophagocytosis.\\nThe patient's condition continued to deteriorate. In the second week, the patient developed massive hemoptysis as well as bleeding from IV sites suggestive of disseminated intravascular coagulation (DIC). Cardiac arrest soon followed. Cardiopulmonary resuscitation efforts were unsuccessful. The patient soon after expired.\nOUTPUT:" }, { "from": "agent", "value": "Hemophagocytic Lymphohistiocytosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 44-year-old male patient presented to our Emergency Department with complaints of abdominal pain and nausea. He stated that he had been suffering from abdominal pain for one week. In other medical centers he had formerly visited, he had been told that his pain was due to a stomach disorder and, for therapy, a proton pump inhibitor had been commenced. Upon continuation of his complaints, the patient had presented to our Emergency Unit.\\nAt the time of presentation, the patient had epigastric tenderness, but the other systemic findings were normal. His arterial blood pressure was 130/80 mm Hg, pulse was 86/minute, and body temperature was 37°C. His blood tests were as follows: WBC, 12.800/µL, CRP, 0.60 mg/L, and serum electrolytes, serum calcium, AST, ALT, GGT, and bilirubin within their normal ranges. However, his serum amylase and lipase were 294 IU/L and 935 U/L, respectively (Ranson criteria score: 0). The patient gave no history of a chronic disease, regularly medications used, alcohol consumption, or trauma. He had no history of a recent febrile disease, either. Following a consultation, the patient was hospitalized in the Clinic of Gastroenterology. Endoscopy revealed grade B esophagitis, two ulcers of 5 and 8 mm in the antrum, and a 1 cm ulcer in the duodenum.\nOUTPUT:" }, { "from": "agent", "value": "Acute Pancreatitis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 35-year-old man was admitted to the hospital complaining of bilateral lower extremity edema. He reported a six-month history of painless mass in the left scrotum. Physical examination disclosed a 10 × 6cm firm non-tender left scrotal mass. A thorax computed tomography (CT) demonstrated multiple metastases in both lungs. Abdomen enhanced CT revealed retroperitoneal multiple lymph node metastases, inferior vena cava thrombus extended from the left spermatic vein and bilateral external iliac veins to the hepatic vein and a decrease in the function of the left kidney due to a thrombus of the left renal vein (). Color Doppler ultrasound confirmed complete occlusion of the inferior vena cava, the left renal and bilateral common iliac veins. Three cycles of bleomycin, etoposide, and cisplatin (BEP) were given. A nearly complete response in the retroperitoneal and lung metastases was observed by thorax and abdominal CT (), tumor markers were normalized at 3 months after this chemotherapy. Although the patient did not have any several respiratory complaints, thorax CT showed partial embolism in the right pulmonary artery and bronchial mass. Anticoagulant treatment was begun and then bronchoscopy with biopsy was performed. The inferior vena cava remained occluded, with evidence of collateralization such as the improvement of the left renal function. CT and positron emission tomography (PET-CT) showed no findings of metastasis or local recurrence at 6 months after the surgery.\nOUTPUT:" }, { "from": "agent", "value": "Pure Yolk sac carcinoma, Mycobacterium tuberculosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 57-year-old man presented to the First Hospital of Jilin University (Changchun, China) with the main complaint of abdominal swelling for 2 months. In addition to the mild percussion pain in the right kidney region, no other symptoms were noted during a physical examination. His past medical history was unremarkable. Computed tomography (CT) scan of the abdomen revealed a nearly-circular mass measuring about 8.1 × 10.6 cm arising from the right adrenal gland (Fig. ). The CT also showed heterogeneous density, both solid and cystic components and calcification of the mass. The lesion showed heterogeneous enhancement and relatively sharp margination on Contrast-enhanced CT (Fig. ). Contrast-enhanced CT scan further defined the large mass was located between the liver and kidney with characteristics consistent with the soft tissue. Vena cava, right renal vein were compressed and displaced. No obvious metastasis was apparent.\\nThe patient underwent open surgery under general anesthesia. A 10.0 cm × 8.0 cm × 6.0 cm mass was found during laparotomy. The tumor was located above the left renal vein and the right renal vein without venous involvement. Due to firmly adhesion with the surrounding tissue, tumor dissection was difficult. Intraoperative blood loss was 800 mL and the tumor was completely removed eventually. Postoperative histopathology showed a monotonous population of small round blue cells with occasional Homer-Wright-type rosettes (Fig. ). The results confirmed the diagnosis of PNET. The immunohistochemical staining was performed supporting the previous diagnosis, which was positive for CD99, FLI-1, NeuN, CGA and VIMENTIN (Fig. ), while negative for EMA, SYN and LCA.\\nThe patient was scheduled for adjuvant chemotherapy with adriamycin, cyclophosphamide, ifosfamide and etoposide. At his follow-up, 5 months after surgery, CT scan results demonstrated a metastatic lesion arising from the right abdominal wall. Unfortunately, the patient died for cancer metastasis one year later after surgery.\nOUTPUT:" }, { "from": "agent", "value": "Ewing’s sarcoma family of tumor" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 73-year-old man was referred from a local hospital with impaired consciousness and left hemiparesis after a motor car accident. A neurological examination revealed stupor with a Glasgow Coma Scale score of 8. Severe grade 2 hemiparesis of the left arm and leg was detected. The signal void on the left vertebral artery was lost on the C6 axial image (). He was diagnosed with left VAD and was managed conservatively. Neck computed tomography (CT) angiography showed obliteration of the left second segment of the vertebral artery (V2) (). The obliteration of the V2 segment remained on 2-week follow-up CT angiography. A brain MRI was performed to evaluate the cause for impaired consciousness and motor weakness. Ischemic areas were diffusely distributed to the anterior and posterior circulation of the Circle of Willis. Aspirin was started for antiplatelet therapy 1 week after the trauma after confirming disappearance of the acute traumatic hemorrhage. He was discharged from the hospital on aspirin to receive neurological follow-up and rehabilitation therapy. A brain CT scan at discharge showed subdural fluid collection in both frontal lobes. His motor weakness and consciousness state were improving gradually to a grade 4 weakness and alert state on follow-up examination. Bilateral chronic subdural hematomas (CSDHs) were observed with headache 4 months after the trauma (). Burr hole trephinations were performed on both sides for the CSDHs.\nOUTPUT:" }, { "from": "agent", "value": "Multiple Cerebral Infarctions, Unilateral Traumatic Vertebral Artery Dissection, Cervical Fractures" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 33-year-old African American male with HS (onset as a teenager), with subsequent arthritis 10 years later, presented with multiple nodular skin lesions, predominantly in intertriginous areas in the axilla and inguinal area. He reported an increase in the number and size of draining pustules. He reported generalized joint pains including the left knee and right elbow with swelling and redness. He reports these flares typically occur 1 to 2 times yearly, subsiding in association with antibiotic treatment. Skin examination revealed generalized suppurate nodules and chronic scars (see ). Sinus tracts were noted in the intertriginous areas. Synovial fluid analysis from the left knee revealed yellow cloudy fluid, 190 white blood cells/mm3, and 4180 red blood cells/mm3, with no crystals seen. Labs revealed leukocytosis (20 000 white blood cells/mm3 with neutrophil predominance and no band forms), hemoglobin 12.8 g/dL (normal 13.3-17.1 g/dL), erythrocyte sedimentation rate was 110 mm/h (normal 1-30 mm/hr), high sensitive C-reactive protein 103.2 mg/L(normal 0.1-10 mg/dl). Anti-nuclear antibody, rheumatoid factor, and anti-cyclic citrulline peptide were not detected. Blood and urine culture were negative. Urine Chlamydia and Neisseria polymerase chain reaction was also negative. Radiographic studies of left hand revealed erosions at the head of second, fourth, and fifth proximal phalanges as well as base of the second middle and proximal phalanges (see and ). Erosive arthritis was also noted in radiographs of wrist and ankle (see ). His joint pains significantly improved and skin lesions reduced in size and number. On day 5 of admission he was discharged home on sulfasalazine 500 mg daily.\nOUTPUT:" }, { "from": "agent", "value": "Relapsing Polyarthritis, Hidradenitis Suppurativa" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 63-year-old woman complained of horizontal diplopia of two weeks duration. She reported that the diplopia did not have a fixed pattern and was not aggravated by fatigue. There was no past ophthalmic or medical history of note.\\nUpon first examination, her corrected visual acuity was 20/20 in both eyes. Her external ocular examination, intraocular pressures, and pupillary light reactions were all normal. The extraocular motility examination revealed abnormal abduction of the left eye, which never reached beyond the midline of the orbit. She had a left esotropia of 50-prism diopters (PD) at nearin primary position, 80PD in the left gaze, and 30PD in the right gaze (). The right ocular movement was not disturbed in any direction. One day later, she could abduct the left eye beyond the midline and had a left esotropia of 35PD at near in primary position, 50PD in the left gaze, and 14PD in the right gaze (), which showed improved abduction of the left eye ().\\nTwo weeks later, the motility examination again revealed a complete inability to abduct the left eye beyond the midline. Systemic examination was unremarkable.\\nSerum acetylcholine receptor binding antibody and Tensilon test were negative. A computed tomography (CT) scan of the brain revealed multiple, enhancing, soft tissue, mass-like lesions involving the left cavernous sinus and the apex of both petrous bones ().\\nSerum protein electrophoresis revealed two monoclonal components; IgAκ and free κ light chains. Bence-Jones protein was detected in urinary protein electrophoresis (1.4 g/l, with 83% of free κ light chains). Bone marrow biopsy revealed a hypercellular marrow with diffuse infiltration of atypical plasma cells, which accounted for about 60% of the total marrow cellularity.\nOUTPUT:" }, { "from": "agent", "value": "IgAκ-type multiple myeloma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 58-year-old male was admitted for an open reduction internal fixation of his right distal radius fracture. His medical history was significant for impaired glucose tolerance, hypertension, dyslipidemia, obstructive sleep apnea, and asthma. The patient was also diagnosed with PTSD, anxiety, depression, and polysubstance dependency. He reported “wild wake-ups” on awakening from previous anesthetics. He and his wife described episodes of agitation, aggressiveness, and emotional lability manifested as inconsolable crying.\\nFollowing placement of American Society of Anesthesiology standard monitors, the patient was preoxygenated with 100% oxygen. He was induced with 100 mg of lidocaine, 200 mg of propofol, and 100 mcg of fentanyl given intravenously. A size four laryngeal mask airway was inserted easily. Anesthesia was maintained with sevoflurane at two to 2.3% in an air/oxygen mixture with a fractional inspired oxygen concentration of 0.56. The patient received 500 mcg of fentanyl and 1 mg of hydromorphone in divided doses during the one hour and 40 minutes of the procedure. He shouted with eyes closed, “Call a medic. I am hit. I am hit.” Additional staff was called in to prevent the patient from harming himself. He continued to yell for another five to seven minutes, at which point the patient was sedated with 70 mg of propofol. As the propofol wore off, the patient reemerged less agitated, but he remained disoriented. He continued to say, “I’m hit. I’m hit. Call a medic.” After another ten minutes, the patient’s spouse was gowned in disposable coveralls and brought into the operating room. The patient became calmer when he heard his wife's voice, but he remained disorientated for another two minutes. The moment of clarity came abruptly; he recognized his wife. The patient was again informed of his location and that surgery was completed. He immediately apologized and asked if he had hurt anyone.\nOUTPUT:" }, { "from": "agent", "value": "Emergence Delirium, Post-traumatic Stress Disorder" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 58-year-old male smoker presented with a one-month history of exercise chest pain. His exercise ECG was borderline normal, so coronary angiography (CAG) was performed. The CAG revealed severe stenosis in the circumflex and right coronary artery (RCA). Borderline severe stenosis was also detected in the left anterior descending (LAD) coronary artery (, ). The fractional flow reserve value was 0.92.\\nTwo stents were implanted in the RCA and circumflex artery, one after the other. Immediately after the procedure, the patient developed chest pain. An emergency CAG did not identify any culprit lesion.\\nHalf an hour after the second CAG, the patient complained of severe chest pain. An ECG revealed ST-segment elevation in leads V1–4, consistent with anteroseptal MI , which had not been there before . The patient was taken immediately to the catheterisation unit.\\nThere was no occlusion in the implanted stents but the stent in the RCA was under-expanded. Dilatation was performed, however, the patient continued to experience chest pain. Therefore, a stent was implanted for LAD stenosis. Initially, the chest pain decreased but then increased again. An echocardiogram revealed a localised apical pericardial effusion .\\nThe patient’s chest pain remained constant for several hours, without any recurrence of elevated cardiac enzymes. His chest pain was attributed to local pericardial irritation due to coronary perforation by the guide wire during implantation of the stent .\\nSeveral days after the procedure, the ECG showed complete resolution of the ST-segment elevation, with no pathological Q wave .\nOUTPUT:" }, { "from": "agent", "value": "Regional pericarditis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: An 87-year-old woman with type-2 diabetes and systemic hypertension presented with a history of POAG in both eyes (OU) for nearly 10 years. The damage was moderate and the progression rate had been relatively slow. On her initial examination, best corrected visual acuity (BCVA) was 20/30 in the right eye (OD) and 20/40 in the left eye (OS). Biomicroscopy was normal and IOP was 21 mmHg OU on antiglaucoma medications.\\nOne year later, she had developed exfoliation material (XFM) on the anterior lens capsule and pupillary margin OS (Figure ). Her IOP was 24 mmHg OD and 34 mmHg OS. Gonioscopy showed open-angles OU with visualization of XFM on the trabecular meshwork OS. Fundoscopy showed a cup-to-disc ratio of 0.5 and 0.7, respectively. This asymmetry of structural damage was attributed to the XFS onset and additional antiglaucoma topical treatment was initiated OS. Over the following 3 years, the glaucoma damage advanced OS due to uncontrolled IOP, despite treatment (Figure ). At this time, she refused surgical or laser intervention. The OS presented an enlarged cup-to-disc ratio (0.9–1.0) and her visual acuity dropped to counting fingers at two inches (Figure ). Several months later, XFM was noted on OD and the IOP had increased to 30 mmHg, followed by rapid glaucoma damage progression. After 2 years, cup-to-disc ratio was of 0.8 OD and 1.0 OS.\\nDuring the last year of follow-up, the patient developed further bilateral visual impairment. BCVA was 20/70 OD and light perception OS, and IOP was 30 mmHg OD and 62 mmHg OS.\nOUTPUT:" }, { "from": "agent", "value": "Central retinal artery occlusion, Non-arteritic anterior ischemic optic neuropathy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 29-year-old woman with history of migraine and no other known health problems presented with a 3-week history of headache. She was taking no medication other than oral contraceptives and did not smoke.\\nHead computed tomography (CT) ordered by her primary care physician was normal. With a presumptive diagnosis of sinusitis, she underwent 7 days' treatment with amoxicillin/clavulanic acid. General analgesics, nonsteroidal anti-inflammatory drugs, and benzodiazepines brought no relief.\\nShe presented at our emergency department for persistent headaches. From the onset, her symptoms were orthostatic and disappeared on lying down. During this period, the headache was frontal and orbital, nonpulsating, with photophobia and phonophobia. No rhinorrhea, lacrimation, or conjunctival injection was present. There was no parenchymal damage. Radionuclide cisternography also detected a slight left dorsal parameningeal uptake at the T4-T5 level that could correspond to a CSF leak. The CSF opening pressure was 3 cm H2O. The composition of the CSF was normal.\\nA dorsal epidural blood patch provided good but temporary relief from symptoms. Three weeks later, a second blood patch achieved complete resolution of symptoms within two weeks.\\nTwo months after onset, with the patient asymptomatic and still on oral anticoagulants, MRI showed extensive but incomplete recanalization of the superior sagittal sinus; no signs of SIH were present.\\nExtensive investigation for thrombophilia was negative except for hyperhomocysteinemia. Oral contraceptives were not discontinued.\nOUTPUT:" }, { "from": "agent", "value": "Cerebral Venous Thrombosis, Spontaneous Intracranial Hypotension" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Serum immunoglobulin E (IgE) radioallergosorbent tests for shellfish, wheat, and latex were positive (). Secondary rash induced due to drugs or infectious disease was considered as one of the differential diagnoses; all drugs including omalizumab were discontinued because the erythema occurred 6 days after its administration. A lymphocyte transforming test (LTT) was performed on the suspected drugs, including antibiotics and nonsteroidal anti-inflammatory drugs that she took several days before this event. However, their reactive responses were all negative (). Thus, we could not identify the specific cause of disseminated erythema. Furthermore, she developed an itchy throat immediately after wheat ingestion, similar to her previous symptoms. Moreover, she could safely eat wheat with no incidence of oral symptoms.\nOUTPUT:" }, { "from": "agent", "value": "Adult food allergy, Severe asthma, Latex-fruit syndrome" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 49-year-old male DM1 patient was admitted to the cardiology ward following two episodes of syncope. Electrocardiographic tele-monitoring detected asymptomatic episodes of sustained VT. Physical examination showed a blood pressure of 112/74 mmHg, and a heart rate of 82 b.p.m. He had normal heart sounds, with no S3 or S4, or murmurs; JVP was not elevated. The patient was independently ambulatory. He reported fatigue, weakness in the hands, and dysphagia. He had distal weakness and facial myotonia. The patient received an echocardiogram which showed global hypokinesis of the LV with an LVEF of 45% (Table ). The absence of late gadolinium enhancement (LGE) indicates that there was no myocardial scarring. Following VT detection, the patient received an MRI compatible dual-chamber implantable cardiac defibrillator (ICD). The patient was prescribed acetylsalicylic acid 81 mg q.d., ramipril 2.5 mg q.d., metoprolol 25 mg b.i.d., rosuvastatin 10 mg q.d., and metformin and insulin. He has had subsequent appropriate ICD shocks and his ICD therapy was adjusted to optimize-anti-tachycardic pacing (ATP)-termination and to minimize ICD shocks, and his dose of metoprolol, was increased to 50 mg b.i.d. He received 53 episodes of ATP and 3 ICD shocks were delivered. In his most recent follow-up visit, at 11 months, there were seven incidents which required two to three ATP and four shocks had to be delivered for four separate VT events detected at 200 b.p.m. each. Given his recurrent VT, metoprolol was uptitrated to 75 mg b.i.d.\nOUTPUT:" }, { "from": "agent", "value": "Ventricular tachycardia, Type 1 myotonic dystrophy, Type 1 diabetes" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 47-year-old female patient was referred to our hospital due to sudden onset of headache (visual analog scale; VAS 8) and backaches (VAS 6) following a slip and fall two weeks prior to admission, resulting in periorbital swelling, bruising and a headache. The pain was aggravated by standing and walking and partially relieved by sitting. The patient showed no sensory and motor deficits in lower limbs and there were neither bladder nor bowel dysfunction. She was alert and well oriented, and her spine was aligned normally in the coronal plane with mild loss of lumbar lordosis. Lumbar spine movements in the sagittal plane were restricted by pain. Upon straight leg-raise testing, the patient's leg was able to be raised 60° while lying down, with no neurological deficits noted in the limbs. The cervical spine was normal. There was no evidence of cranial nerve palsy or lateralizing neurological deficits. She had no previous history of anticoagulant therapy and hematological coagulopathy. Her coagulation profiles including platelet count, prothrombin time, and activated partial thromboplastin time were all within the normal ranges. Cranial imaging studies revealed a small amount of acute SDH along the tentorium (). Magnetic resonance imaging of the patient's lumbosacral spine revealed spinal SDH at the anterior portion of the caudal thecal sac at the levels of L5-S2 with marked neural compression (). No definite contrast enhancement at the lesion site was observed. The remaining intracranial structures and cervicothoracic spine were normal. Based on radiologic findings, traumatic intracranial SDH at the tentorium with subsequent spinal SDH was diagnosed. Seven-day course of conservative management was uneventful, and the patient experienced no neurological deficits, without notable event. Her complaints of headache and back pain were nearly resolved, and the patient returned to normal daily activities. At one-year follow-up, the patient was free of leg pain, but complained of a sustained mild headache. Follow-up imaging studies showed no definite abnormalities in the cranium or spine.\nOUTPUT:" }, { "from": "agent", "value": "Spinal Subdural Hematoma, Cranial Subdural Hematoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 40-year-old white man with a disease history of KTWS diagnosed since birth presented with iron deficiency anemia, his hemoglobin (Hb) level was 9 g/dL, and complaints about episodes of hematuria and weakness. The remarkable findings of a physical examination were port-wine stains and varicose veins on his limbs and part of his torso (Figs. , , and ), and hypertrophy of both lower extremities: status after amputation of the digits of his left foot and soft tissue resection of plantar surface with auto-skin plastic; and arteriovenous fistula in both legs. MRI and Doppler studies showed: splenomegaly (size 20 × 12 cm) since 1998; multiple hemangiomas in spleen, liver, and bladder; hepatomegaly since 2009 (Figs. , and ); and varicose mesenteric veins. A CT scan in 1998 revealed phleboliths in his pelvis around his colon and bladder. Dynamic renal scintigraphy in 2016 showed slowed excretion due to minor disorder of vascularization of both kidneys with weakened renal function. Laboratory results displayed pancytopenia consisting of normochromic normocytic anemia (Hb, 9 g/dL), neutropenia (1.24 × 103/uL) and thrombocytopenia (107 × 103/uL). Biochemical tests revealed low 25-hydroxyvitamin D (10.67, normal range 30 to 100 ng/ml), fibrinogen (1.1, normal range 1.8 to 3.6 g/l), calcium (1.95, normal range 2.08 to 2.65 mmol/l), and normal creatinine and parathyroid hormone (PTH) level. During hospitalization he received multiple transfusions of red blood cells, perindopril, amlodipine, atorvastatin, allopurinol, and Vigantoel (vitamin D3).\nOUTPUT:" }, { "from": "agent", "value": "Klippel–Trenaunay–Weber syndrome, Hypersplenism, Nephrotic syndrome" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A previously healthy 22-year-old man presented to our emergency department in Abu Dhabi, United Arab Emirates in December. This patient was diagnosed with mild COVID-19 illness, sore throat and loss of sense of smell as well as positive COVID-19 PCR, 0n 26 October 2020. Following full recovery by resolution of symptoms and reverting to negative PCR, he received the first dose of inactivated SARS-CoV-2 vaccine on November 6. Following the first dose of vaccine, he remained asymptomatic and well. He received the second dose on 6 December 2020. A few hours later the patient started to experience headache and fatigue. The day after, he started to develop fever, sore throat and abdominal pain. The illness progressed over the following 4 days when he presented to the emergency department with high-grade fever, myalgia, nausea, vomiting and diarrhoea, and a faint erythematous non-itchy rash over his torso that he noticed earlier that day. The patient reported a dry irritant cough but no shortness of breath or chest discomfort. He had no urinary symptoms and no pain or swelling of his joints.\\nThe patient had no history of recent travel, no sick contacts, no animal exposure and no consumption of raw dairy products. He was not on any chronic medications and had no known allergies. He reported taking ibuprofen and one dose of an antibiotic over the prior few days for symptomatic relief. He was a non-smoker and did not use recreational drugs.\\nIn the emergency department the patient was noted to have a temperature of 39°C, systolic blood pressure of 110 mm Hg and tachycardia, 140 beats per minute. Physical examination revealed dry mucous membranes with congested throat. Bilateral conjunctival injection and left conjunctival haemorrhage. There was a generalised erythematous maculopapular rash, mostly over the chest and back. His peripheral lymph nodes were not enlarged. There were no audible cardiac murmurs, his chest was clear to auscultation, abdomen examination was unremarkable.\nOUTPUT:" }, { "from": "agent", "value": "Adult multisystem inflammatory syndrome" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 54-year-old man presented with a three-year history of pain and tingling sensation on the anterolateral side of his left thigh. Symptoms were increased while standing and walking. Pregabalin was started and gradually increased to 450 mg/day one year ago, and complaints were reported to decrease. However, for the last one month, symptoms were aggravated. There was no sign of chronic disease in his past medical history. The range of motion of the lumbar and bilateral hip, muscle strength and deep tendon reflexes of both lower extremities were found to be normal upon physical examination. Lateral pelvic compression test results were positive. The Tinel’s sign around the ASIS was negative. Erythrocyte sedimentation rate (ESR) was slightly increased (23 mm/h), whereas other laboratory test results were found to be within the normal range. Magnetic resonance imaging of lumbar and coxa-femoral joints did not reveal other possible causes of the symptoms. A solid heterogenic lesion which caused the compression of LFCN was noticed during the ultrasonographic examination (Figure 1). It was painful with sonopalpation. The LFCN was found to be thickened, compared to the right side (Figure 2). The patient was consulted to the radiology department, and the lesion was considered a reactive lymph node. Ultrasound-guided LFCN block with 1 mL betamethasone and 4 mL 0.5% bupivacaine was performed, and immediately after the injection, the pain level decreased from 8 to 3 using the numeric rating scale (NRS). A pruritic lesion at his left thumb was noticed during the detailed examination for the infectious state, and the patient was consulted to the dermatology department. One month later, the patient’s pain level decreased to 1, and ESR was found to be within normal values (7 mm/h). The reactive lymph nodes were found to be smaller in ultrasonographic evaluation. Pregabalin dosage was gradually decreased and discontinued. The complete response to pain level remained unchanged at the sixth-month control. A written informed consent was obtained from the patient.\nOUTPUT:" }, { "from": "agent", "value": "Meralgia paresthetica, Inguinal lymphadenopathy, Tinea pedis infection" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 55-year-old woman presented with increasing episodes of focal seizures. The initial magnetic resonance imaging (MRI) revealed a mass lesion with signal void in the left frontal supplementary motor cortex (). Digital subtraction angiography (DSA) confirmed the diagnosis of an intracranial AVM in the left frontal supplementary motor cortex (). She underwent SRS using X-ray beams of 6 mV with a prescription dose of 25 Gy at the isocenter in a single fraction.\\nThe follow-up MRIs demonstrated gradual obliteration of the AVM. Two years after the SRS, she developed recurrent headaches, and right-sided lower limb paresthesia. Contrast-enhanced T1-weighted (T1W) MRI showed an enhanced lesion at the previous AVM site, indicating brain necrosis (). Despite steroids therapy and hyperbaric oxygen therapy, she suffered from repeated focal seizures and developed progressive hemiparesis. During the next 2 years, she was admitted to our hospital six times for symptoms of raised intracranial pressure, and treated with steroids. Four years after SRS, she was admitted to our hospital because of tonic seizure. Computed tomography (CT) scanning revealed microbleeding foci in the necrotic tissue (). T2W MRI showed a necrotic mass and surrounding massive edema in the left hemisphere ( and ). On DSA, neither residual AVM nor early draining vein was observed, which confirmed complete obliteration ().\\nFDG PET was performed to rule out other epileptogenic foci (). It demonstrated not only a defect of tracer accumulation in the necrotic core, but also severe hypometabolism in a broad area of the left cerebral cortex compared to the contralateral cortex (). No other foci were detected in the rest of the brain. Because of the prolonged neurological deficit and microbleeding from necrotic tissue, a decision was made to remove the necrotic mass. Pathological inspection confirmed the diagnosis of radiation-induced tissue changes with necrosis. The right-sided hemiparesis gradually improved with less frequent seizures during the following three weeks. Subsequent MRI showed reduction of the brain edema around the resected site (). In addition, FDG PET performed 3 weeks after the operation showed remarkable improvement of metabolic activity in the left cerebral cortex ().\nOUTPUT:" }, { "from": "agent", "value": "Cerebral arteriovenous malformation, Radiation-induced necrotic lesion" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 55-year-old female with a history of chronic back pain, anxiety and depression was admitted to the hospital for an elective subtotal colectomy and ileorectal anastomosis for colonic inertia. On admission, her medications were documented: acetaminophen/oxycodone (5/325 1 PO q6h prn), escitalopram (10 mg 1 PO qd), cyclobenzaprine (10 mg 1 PO tid), bupropion (100 mg 1 PO qd) and omeprazole (40 mg PO bid). The patient admitted to drinking 1–2 drinks of alcohol weekly and denied any history of drug abuse. The surgery was uneventful, and the patient was started on home medications and a clear liquid diet within 24 hours of the surgery. Intravenous hydromorphone (1 dose—0.5 mg) and oral tramadol were used for pain control within the first 48 hours following the operation.\\nOn postoperative day 2, the patient became nauseous and vomited approximately 500 cc of bilious liquid. Over the next 24 hours, the patient became confused, agitated and developed auditory and visual hallucinations. She stated, ‘Men are talking to me from my IV and are trying to kill me’. Her physical examination and lab studies remained normal. The abdominal exam remained unremarkable. The patient was transferred to the ICU for presumed septic shock. The patient was stabilized and started on IV antibiotics. She was transferred from the ICU within 24 hours and subsequently discharged from the hospital in good health on Day 12.\nOUTPUT:" }, { "from": "agent", "value": "Kratom withdrawal, Aspiration pneumonia" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: All clinical, radiological, and surgical signs were evaluated. Previous literature was reviewed and main findings were compared with literature data. Our patient had occasional low back pain for 5 years and severe right leg pain for 1 week. Neurological examination was remarkable for hypoesthesia on a region corresponding to L5 and S1 dermatome, and loss of strength in extensor hallucis longus and tibialis anterior muscles. Therefore, a surgical intervention was decided.\\nL5 spinolaminar process was totally removed using the line of bilateral pars interarticularis, and L5/S1 posterior instrumentation was performed. It was observed that S1 root ascended above normal at right L5/S1 disc space. The patient mobilized at postoperative day 1 later and discharged at postoperative day 2.\\nDuring the review of the preoperative MRI of the patient, it was noted that the root traversing the right L5/S1 level had a greater transverse diameter than that of the left root on axial cross-sections [].\nOUTPUT:" }, { "from": "agent", "value": "Lumbar spondylolysis, Lumbar disc herniation, Lumbosacral nerve root anomaly" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 32-year-old male patient reported to the Department of Oral and Maxillofacial Surgery in October 1993 with a chief complaint of swelling on the left side of lower jaw. The swelling was hard and had a duration of 6 months. It was gradually progressing in size and was associated with pain and paresthesia for the past 1 month. On I/O- Intraoral examination, the swelling extended from left lateral incisor upto second molar. There was more expansion of buccal cortex than lingual cortex. Expansion had caused the obliteration of buccal vestibule. On radiographic examination, well-defined multilocular radiolucency extending from lateral incisor to second molar was seen []. Incisional biopsy was done under local anesthesia. Segmental resection of lesion with 1 cm of normal bone was done []. After 6 months of resection, reconstruction was done with nonvascularized iliac crest bone graft and stabilized with AO reconstruction plate []. The patient was kept under regular observation for a period of 6 months. In due course of time, mandibular prosthesis was given as replacement for missing teeth. No complications in the postoperative period were reported till 2008 [].\\nIn December 2008, the patient reported to the department with a complaint of painless swelling in the labial vestibule, from the past 2 months, in relation to apical region of right lateral incisor and canine teeth. Aspiration revealed 2–3 ml of straw-colored fluid, after which the swelling subsided, which later recurred in 2 weeks. On radiographic examination [orthopantomogram (OPG)], multilocular radiolucency at the level of right symphysis region was seen with no involvement of the bone graft []. Because the lesion was completely contained within the healthy bone, marginal resection of the bone was done under local anesthesia with 1 cm margin [].\nOUTPUT:" }, { "from": "agent", "value": "Ameloblastoma recurrence" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 58-year-old male, known hypertensive presented with a single gunshot to the epigastrium for six hours (Figure ). He experienced epigastric and right upper abdominal pain with no haemoptysis or per rectal bleeding. On examination, the patient was conscious and had no cardiopulmonary distress. His mucous membranes were moist and pink. His vital signs were all within normal range. Abdominal examination revealed a single entry wound into the epigastrium but no exit wound was noted. There was mild tenderness in the epigastric and right upper quadrant with no distension, guarding or rebound tenderness. Digital rectal examination revealed no blood on gloves and there was no microscopic or macroscopic haematuria noted. His haemoglobin levels were stable and they varied between 14.1mg/dL and 13.2 mg/dL. Erect chest x-ray was negative for pneumo-peritoneum, pneumothorax or haemothorax and abdominal x-rays showed no significant pathologies. There was no free intra or retroperitoneal air noted on the scan. The inferior vena cava was compressed by the haematoma but there was no blush or extravasation seen (Figure ). A small amount of free fluid was also noted in the pelvis (Figure ). The bullet was seen within the soft tissue of the right flank at the level of the first lumbar vertebrae (Figure ).\\nThis patient remained stable throughout the admission. The patient was managed successfully by conservative treatment with serial abdominal examinations and haemoglobin levels every four hours in the high dependency unit. The abdominal examinations were performed by the same surgeon in the first 24 hours and thereafter by the on-call senior resident. The patient was discharged home on day 3 post-admission. At one year of follow-up, the patient was doing well with no further complaints.\nOUTPUT:" }, { "from": "agent", "value": "Gunshot Wound to Anterior Abdomen, Grade Ⅲ liver injury, Contused right adrenal gland" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 94-year-old man was referred to our hospital due to the presence of an abnormal shadow in the chest X-ray (Figure ). He had no chest symptoms and was admitted to our hospital.\\nThe patient had undergone CABG 24 years ago, with an SVG each to the LAD, left circumflex (LCX), and right coronary (RCA) arteries. A chest X-ray revealed a right mediastinal mass which grew in size over the years. A CT scan of the chest revealed a partially thrombosed aneurysm (8.8 cm × 6.5 cm) arising from the site of the SVG near the ascending aortic wall (Figures , ). Coronary angiography revealed an aneurysm from the SVG proximal segment to the RCA that did not communicate with the distal RCA. The SVG anastomosis to the LAD was widely patent, and that to the LCX was completely occluded. Given the patient's advanced age, risks associated with a repeat cardiac surgery, and absence of angina, we opted to close the aneurysm with a vascular plug.\\nFrom the right radial approach, a 0.035-inch\" guidewire was inserted into the SVG aneurysm. A 6-Fr guiding catheter (Terumo Medical Corporation, Tokyo, Japan) was used to engage the SVG's neck, and coronary angiography was performed (Figure ).\\nA 5-Fr catheter (Tempo, Cardinal Health, OH) was advanced into its cavity. Next, the wires were removed, and a curved stiff guidewire (Cordis, Cardinal Health, OH) was inserted to provide maximal distal support (Figure ). The Amplatzer vascular plug 4 (AVP-IV, AGA Medical Corporation, MN) was inserted such that its proximal disk lay within the SVG and the distal disk within the aneurysmal neck (Figure ). Finally, a 7-mm AVP-4 was successfully deployed (Figure ).\\nA contrast CT was performed seven days later, which confirmed the presence of thrombus in the cavity (Figure ).\\nThe patient was discharged home. At the six-month follow-up, recovery courses were uneventful, and the patient had no symptoms. However, one year after the procedure, he died of old age.\nOUTPUT:" }, { "from": "agent", "value": "Saphenous Vein Graft Aneurysm" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Her Li dose was initially 600 mg twice a day (total dose 1,200 mg) and was started in 1996. The Li dose was then decreased to 300 mg at a.m. and 450 mg at bedtime (total dose 750 mg). The 25-hydroxyvitamin D level was borderline to normal at 25–30 ng/mL and the 1,25-dihydroxy-vitamin D level was also normal at 46.3 pg/mL.\\nParathyroid sestamibi scan was performed in anticipation of a potential surgical intervention. It showed a discrete uptake from a probable parathyroid adenoma in the right mid thyroid lobe. The general trend of serum Ca and PTH improved within a year after the Li dose was reduced (Fig. ). Patient 2's serum calcium and PTH levels normalized in about 3 months after decreasing the dose of Li without the need for cinacalcet or surgery. She is likely in the subset of patients who will have improvement of LAH with withdrawal of the offending drug alone.\nOUTPUT:" }, { "from": "agent", "value": "Lithium-Associated Hyperparathyroidism, Bipolar disorder, Stage IIIb chronic kidney disease, Nephrogenic diabetes insipidus, Hypothyroidism" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 29-year-old female visited the Thyroid Clinic at Seoul National University Hospital with the chief complaint of a recently growing diffuse goiter in March 1985. No subjective symptoms were found. On examination, a diffuse goiter of moderate size (about 60gm) was the only abnormal finding. Laboratory examination showed T3RU 27.4%; T3 126ng/dl; T4 6.9μg/dl; TSH 5.8μu/ml; antimicrosomal antibody 80U/ml; and antithyroglobulin antibody below 3U/ml. TBII, TSAb and TSBAb were all negative with values of 5.8%, 110%, and 5.1% respectively. She received 100μg of ℓ-thyroxine daily, with a decrease in goiter size (about 30gm) after two months. The thyroxine dose was increased to 150μg per day and continued.\\nIn December 1985, TSAb activity appeared but she was euthyroid. In March 1986, the goiter size increased (about 50gm) with development of perspiration, palpitation and hand tremor, and a thyroid function study revealed T3RU 46.2%; T3 360ng/dl; T4 22.0μg/dl; and TSH below 0.05μU/ml. Antimicrosomal antibody was 20U/ml, and antithyroglobulin antibody was negative.\\nThe 24 hour thyroidal radioiodine uptake was 56.5% and was not suppressed by T3 administration. At this time, TBII was 23.7 %, and TSAb 611 %, but TSBAb was persistently negative. Antithyroid medications were started and thyroid function normalized with a decrease in TBII and TSAb. TBII and TSAb disappeared ultimately and she remains euthyroid clinically and biochemically after withdrawal of the antithyroid drug until March 1988 ().\nOUTPUT:" }, { "from": "agent", "value": "Hyperthyroidism Following Primary Hypothyroidism, Graves’ disease" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 21-year-old male with past medical history of autism and psychiatric disorder on risperidone was brought to the ED by his family with concern of altered mental status. The family reported that the patient had been somnolent, nonverbal, febrile, and had developed an unsteady gait. The patient was presenting one-week post treatment with a depot dose of risperidone (). In the ED, the patient was nonverbal with a GCS of 11, rigid, somnolent but able to follow basic commands, and displayed masked facies. Vitals included a temporal temperature of 99.3°F, blood pressure of 146/97 mmHg, pulse of 125 bpm, respiratory rate of 20 breaths per minute and oxygen saturation of 98% at ambient air. Laboratory examination was significant for creatine kinase 1092 U/L. Urine drug screen, comprehensive metabolic panel, hematology, and CSF analysis were unremarkable. The patient’s ECG revealed sinus tachycardia with a heart rate of 102 bpm but was otherwise normal.\\nThe patient was started on an intravenous 1mg/kg bolus of dantrolene, followed by 1mg/kg intravenously every six hours in the ED. He was admitted to the ICU for close monitoring. On hospital day two, he began to show improvement in alertness and cognition but remained mostly somnolent with no improvement in muscle rigidity, and he spiked a fever of greater than 102.3°F (). After four days, the intensive care team and neurology adjusted the dantrolene regimen to 40mg intravenously every six hours. Dantrolene was discontinued after 15 days and he was started on a 2.5mg dose of bromocriptine twice per day, which was subsequently adjusted to 5mg every eight hours.\\nBy hospital day six, he was following basic commands and showing progressive symptomatic improvement. The patient continued to improve and by hospital day 10 demonstrated significant improvement in both gross and fine motor skills. He was subsequently discharged on hospital day 18 with continued bromocriptine treatment and close follow-up.\nOUTPUT:" }, { "from": "agent", "value": "Neuroleptic Malignant Syndrome" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Otherwise the patient was in excellent health with no significant medical history; he had no known drug allergies and was on no chronic medications. No other abnormalities of the eyelid were noted and there was no vitiligo or signs of periocular inflammation.\\nHis visual acuity was 20/20 in both eyes and there were no significant findings in the anterior segment or fundus. Serological tests for autoimmunity (antinuclear, antimitochondrial, and antismooth muscle antibodies) were negative and human leukocyte antigen (HLA) typing failed to demonstrate types HLA-DR4 or Dw53. Radiological examination of the chest and lumbar spine revealed no abnormalities. Marked deficiency of melanocytes in the hair follicles was visible as compared with the normal overlying epidermis (). Infiltration of inflammatory cells, including lymphocytes and macrophages, was observed in the dermis (, arrow). Numerous melanocytic cells were observed at the dermo- epidermal junction (, open arrow).\nOUTPUT:" }, { "from": "agent", "value": "Halo Nevus, Poliosis of Eyelashes" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: She reported no symptoms at rest. The patient had been prescribed propranolol 10 mg three times daily for anxiety and an oestrogen patch for hormone replacement therapy. She was an ex-smoker and her past medical history included obesity, migraine, and depression. The test was stopped due to dyspnoea and fatigue. Her attending cardiologist felt that CAD could not be excluded and referred her for a CTCA, which showed normal coronary arteries.\\nInvasive CAG revealed myocardial bridging in the mid-LAD. Coronary flow reserve on coronary function testing was low at 1.7, with a borderline IMR of 24. On acetylcholine provocation testing, there was a transient reduction in antegrade flow in the LAD without evidence of epicardial vasospasm (). No changes to her medication were made.\\nAt 12 months, the patient was unblinded. Her primary care physician had referred her to the cardiac rehabilitation service for supervised exercise. Her exercise tolerance had improved and she only had symptoms when the weather was particularly cold.\nOUTPUT:" }, { "from": "agent", "value": "Microvascular angina, Non-cardiac chest pain" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: An 87-year-old woman with continuous chest discomfort was referred to our hospital and we suspected that she had AMI. She slipped down on the floor and was admitted to another hospital due to multiple rib fractures and stayed there for 10 days. On admission to our hospital, she complained of chest pain. She had no history of cardiovascular risk factors nor did she have family history of heart disease. Her blood pressure was 80/40 mm Hg and her pulse rate was 125 beats/min. Systolic murmur was heard through cardiac auscultation. An ECG was done on admission and sinus rhythm, ST-segment elevation and abnormal Q wave in leads V1-4 were observed ().\\nChest radiography showed no signs of cardiomegaly, nor signs of pulmonary congestion. Laboratory data on admission showed increased levels of cardiac biomarkers (troponin-I 8.2 ng/nL and CK-MB 50 U/L). Echocardiography showed akinesis in apical segments of LV and right ventricular (RV), and hyperkinesis in the basal segments of LV (). Filling defect (0.8 cm in size) and left to right shunt flow were shown on apical segment of interventricular septum (). Post-AMI VSR was suspected and she underwent emergency cardiac catheterization. However, coronary angiography revealed normal coronary artery with thrombolysis in myocardial infarction grade 3 (). Angiographic findings showed no spontaneous coronary spasm, nor thrombus. However, we could not perform coronary spasm provocation test. Since the patient and her family did not want to get a cardiac operation, only medical therapy including intravenous inotropics was continued. Her peak troponin-I level gradually decreased during follow-up examinations. On the third day after admission, ECG showed persistent ST-segment elevation in V2-5, and Q-wave in lead aVR, III, and V1-4 (). On the fourth day after admission, polymorphic ventricular tachycardia developed (), and the patient died even after cardiopulmonary resuscitation was performed ().\nOUTPUT:" }, { "from": "agent", "value": "Ventricular Septal Rupture, Stress Induced Cardiomyopathy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 40-year old woman was admitted to our hospital for evaluation of a rapidly growing, painless\\ninguinal mass of four-month duration. She was a smoker with long-standing Crohn's disease\\ndiagnosed at age 20, with mild remitting gastrointestinal symptoms, responsive to therapy\\nwith topical and systemic 5-aminosalicylic acid. She has been in remission for 5 years at the\\ntime of the present complaint. She also developed a concomitant autoimmune thyroiditis.\\nThe physical examination showed a palpable, hard, mobile nodule in the left inguinal region.\\nOn ultrasound examination, a hypoechoic formation measuring 30 mm in greatest diameter was\\nfound. The tumor was located in the soft tissues distal to the lymphatic inguinal region. A lymph\\nnode lesion was suspected, and fine needle aspiration cytology showed poorly differentiated\\ntumor cells resembling melanoma (\\n). However, a detailed history and dermatologic exam revealed no evidence of skin lesions.\\nAn additional excision biopsy showed a well-circumscribed tumor with a fleshy cut surface with\\nfoci of hemorrhage and necrosis. On microscopic examination, the tumor consisted of anaplastic\\nand pleomorphic cells, with atypical mitoses and invasion of surrounding adipose tissue. Sample margins were positive, and re-excision\\nwas performed, with histology showing foci of deep residual tumor.\\nHer treatment included local radiotherapy, and at 10 months of follow up, she is disease free.\nOUTPUT:" }, { "from": "agent", "value": "Pleomorphic undifferentiated soft tissue sarcoma" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 15 year old boy presented in a clinic with symptoms of dyspnea (NYHA, Class I). He was short (height less than 3rd centile) with global developmental delay, a very sociable personality, and a hoarse voice. A physical examination showed dysmorphic facial features like periorbital fullness, full cheeks with prominent naso-labial folds, thick lips, and widely spaced permanent dentition. A cardiovascular examination revealed normal precordium without abnormal pulsations or thrill. Auscultatory findings included normal heart sounds and a pan-systolic murmur (Grade 2/6) in the tricuspid area without additional sounds and murmurs. It did not show features of pre-excitation. Other valves (mitral, aortic, and pulmonary) and cardiac structures were normal on echocardiography. Relevant normal investigations included blood glucose, serum calcium, and thyroid function test. As he did not have any significant cardiac symptoms, a regular medical follow-up was advised along with genetic counseling.\nOUTPUT:" }, { "from": "agent", "value": "Williams syndrome, Ebstein’s anomaly of the tricuspid valve" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: Kathy (this is a representative composite case that does not reflect any single patient) was a 67-year-old woman who suffered an out-of-hospital cardiac arrest. She received 5 min of cardiopulmonary resuscitation and defibrillation by emergency medical services at the scene before the return of spontaneous circulation. These tests showed mixed results. On the one hand, an MRI scan showed no structural abnormality, and somatosensory evoked potentials were bilaterally present with normal latency and amplitude. While the bilateral absence of the N20 somatosensory evoked potentials response indicates a poor prognosis, its presence does not predict neurological outcome. On the other hand, Kathy displayed persistent seizure activity on her electroencephalogram, which is associated with increased mortality following cardiac arrest.\\nThe neurocritical care team met with Kathy’s husband and son and explained that they were uncertain about her likely outcome and needed more time and information to develop a clearer picture of Kathy’s prognosis. The care team was aware of an ongoing research study at the hospital involving functional MRI for which Kathy was eligible. The study involved recording brain responses to stimuli and comparing patient responses with eventual outcome to determine if functional MRI could be a useful prognostic test for future patients. In particular, given that Kathy herself cannot provide informed consent, how should patient autonomy be protected and consent be obtained? Are there potential obstacles to proxy decision making in this context? Our ethical analysis stems from reflection on a research study that is currently under way at the Lawson Health Research Institute. Written informed consent was obtained from proxy decision makers in all cases. In this article, we identify four ethical issues associated with obtaining informed consent in Kathy’s case. After describing each issue, we propose potential solutions which would make Kathy’s participation in the functional MRI study compatible with her rights and interests.\nOUTPUT:" }, { "from": "agent", "value": "Severe anoxic brain injury" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 47-year-old male patient initially presented with recurrent abdominal pain, diarrhea, low fever, bloody stools, and oral ulcers in November 2012. He had a 10-kg weight loss over the previous 8 months. His blood counts were essentially normal except for mild anemia. He was admitted to the hospital for perianal fistula, which was treated by surgical repair procedure. The findings included multiple inflammatory lesions and narrowed lumen in the ileum and colon. The ileum biopsy showed characteristic superficial ulceration and transmural inflammation (Fig. ).\\nThe patient was treated with adalimumab with an initial dose of 160 mg, followed by a weekly dose of 60 mg for a total of 12 weeks. He also had a course of azathioprine (50 mg/day) for 8 days, which was discontinued because of febrile neutropenia. His symptoms were significantly improved with the treatment. However, his CD recurred in 2 years. The treatment was switched to infliximab, and he remained to have intermittent flares of CD that was controlled by infliximab treatment.\\nFour years after CD diagnosis, the patient was found to have severe anemia. At this point, a blood test revealed hemoglobin of 52 g/L, WBC 25.8 × 109/L with immature cells, and platelets 35 × 109/L. Bone marrow aspirate revealed 21$ blasts, and significant myelodysplastic changes involved mainly in erythroid hematopoiesis. Iron staining of the marrow specimen showed abnormal erythroid sideroblasts and ringed sideroblasts (Fig. ). Cytogenetic karyotype analysis showed a clonal abnormality of loss of chromosome 7. After discussion about leukemia treatment, the patient declined chemotherapy for AML, and he was discharged after supportive therapy including blood transfusion.\nOUTPUT:" }, { "from": "agent", "value": "Acute Myeloid Leukemia with Myelodysplasia-Related Changes, Crohn's Disease" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 45-year-old female was referred to the dermatology clinic of our hospital with a 15-month history of lesions on her tattoo. Her tattoos had red, scaly patches. She previously had a black tattoo for 10 years, without any adverse event. Her medical and family histories were unremarkable, except for development of chronic exertional dyspnea and a mild cough 9 months before the development of the skin lesions. She had no history of joint pain or other cutaneous skin lesion. On examination of the tattoo, the tail of her tattoo was slightly raised with fine scaling []. The results of a skin biopsy demonstrated nonnecrotizing granulomas with few lymphocytes around the granuloma and negative results on acid-fast Bacillus and fungal stains []. In addition, the chest imaging revealed perihilar lymphadenopathy and few small nodules in both lungs []. Blood tests revealed an abnormally high level of angiotensin-converting enzyme (ACE). The ACE level was 65 U/L (normal range up to 50 U/L). The patient was treated with oral prednisone 25 mg/day for 12 weeks. The dose of prednisone was tapered to 10 mg/day for maintenance therapy (for 6 weeks). On follow-up at 24 weeks the skin lesion had significantly improved; with the scaling and erythema being negligible.\nOUTPUT:" }, { "from": "agent", "value": "Pulmonary Sarcoidosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient was a 31-year-old yellow race, nonporous, female who presented with complaints of a painless palpable lump in the upper inner quadrant of her left breast for 5 months in April 2014. The size of the mass enlarged gradually from 2 × 2 × 2 to 3.0 × 3.0 × 2.0 cm over the 3 months at that time. Ultrasound demonstrated a solid mass of 2.93 × 2.79 × 2.12 cm at 11‘o’clock position, 2.6 cm from the nipple. The solid mass was categorized as BRIRADS 5 according to the standards of the BIRADS-US. The ultrasound of the axilla revealed some enlarged left axilla lymph node, in which the biggest one was 2.81 × 1.08 cm and categorized as BIRADS-US 5 (Fig. ). ). Immunohistochemically, the results were reported to be ER positive 80%, PR positive 85%, HER-2 2+ (HER-2 negative amplification by FISH), and Ki67 positive 30% (Fig. ). [ However, she did not receive any therapy due to her private reasons. Seven months later, the solid mass enlarged from 2.93 × 2.79 × 2.12 to 4.56 × 2.09 × 2.78 cm, as detected by ultrasound on November 20, 2014 (Fig. ). On March 27, 2015, it enlarged to 7.3 × 6.0 × 4.0 cm as detected by ultrasound. On March 25, 2016, the size of the tumor was already 16 × 13.5 × 12 cm, which occupied the whole left breast with skin implanted and nipple abnormality (Fig. ).\nOUTPUT:" }, { "from": "agent", "value": "Infiltrated ductal breast cancer, Luminal B subtype" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A nineteen-year-old female patient, after being struck by lightning, came to the emergency room with burns on her body and somnolence. During the physical inspection, right external auditory canal and tympanic membrane and the left external ear canal are examined as a normal. On the left tympanic membrane, about 5 × 4 mm perforation was determined (). Walk, Romberg, finger-nose, and Unterberger tests were found to be normal and there was no nystagmus; nasal and otorhinolaryngology examinations are determined to be normal. Healed burn wounds are observed on the posterior skin of the left ear, left side of the neck, and sternum (). Based on these findings, we thought that lightning struck the left side of the body. Magnetic resonance imaging of the cranial region was determined naturally. Additional pathology was not observed so, for the rehabilitation of the hearing, a hearing aid was given for the right ear. Protection principles were explained for left ear and regular follow-up was recommended. There were no changes on the size of the left tympanic membrane perforation. Patient did not accept the myringoplasty operation, which was recommended by us. Due to convalescence on her right ear, the use of hearing aids was terminated.\nOUTPUT:" }, { "from": "agent", "value": "Isolated Sensorineural Hearing Loss" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: An otherwise healthy 10-year-old male had a 3-week history of nighttime choking episodes, followed by stridor, difficulty swallowing, involuntary clenching of teeth and jaw, mild throat discomfort, and occasional emesis. These episodes occurred within 10 minutes of falling asleep, lasted 10 to 30 seconds, and occurred 8 to 10 times a night. He recalled half of the episodes. He reported fewer episodes when he slept upright in a recliner. He had no associated incontinence, rhythmic shaking movements, or tongue biting, and these episodes occurred only at night.\\nHis physical exam revealed postnasal drainage, small pale ulcers on buccal mucosa, 2+ tonsils bilaterally, and Modified Mallampati Class II airway. His neurological exam was normal including his memory, speech, cranial nerves, coordination, and motor and sensory examination.\\nOvernight polysomnography with pH probe showed no OSA. He had 4 episodes of choking during non–rapid eye movement sleep. He was awake and interactive after the first 2 episodes (). He had 23 reflux episodes to distal esophagus, none of which were associated with his choking episodes. An awake “routine” EEG showed bihemispheric theta frequency slowing of the background activity without focal or epileptiform features. Long-term video EEG monitoring revealed 9 episodes of gasping/choking lasting from 32 to 90 seconds with an average of 45 seconds. Filtering electromyographic artifact and re-montaging uncovered rhythmic theta activity beginning approximately 10 seconds after the onset of the event and compartmentalized in F3/C3 region followed by a brief period of generalized slowing. The interictal EEG had no epileptiform discharges. On retrospective review, his sleep EEG montage showed similar abnormalities associated with his gasping episodes (). He required levetiracetam, phenytoin, and valproic acid to achieve adequate control of his seizures, and he was eventually discharged on carbamazepine and levetiracetam.\nOUTPUT:" }, { "from": "agent", "value": "Epilepsy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 60-year-old male with metastatic NET presented after a surveillance CT showed progression of his disease. He was initially diagnosed with NET 3 years earlier, after presenting for a small bowel obstruction. Surgical pathology at the time showed a well-differentiated, low-grade NET originating in the small bowel with a Ki-67 of 2%. Imaging was suggestive of metastatic disease with multiple liver lesions and intra-abdominal and peripancreatic lymph nodes, of which one liver lesion and one lymph node were pathologically confirmed to be NET. He was treated with lanreotide, a somatostatin analog in the interim.\\nThe patient was followed with surveillance CT scans every 4–6 months. His most recent surveillance CT showed increased size of the major metastatic liver lesion and increased intra-abdominal lymphadenopathy, prompting this presentation. At this time, he had no urinary, bowel, sexual, or pelvic pain complaints that would suggest prostatic disease and was otherwise asymptomatic. Eight months before the current presentation, he was found to have an elevated prostate-specific antigen (PSA) of 4.3 ng/mL, though his PSA had since normalized to 1.42 ng/mL. A 68Ga DOTATATE PET/CT was performed to further characterize his disease and assess his candidacy for peptide receptor radionuclide therapy.\\n68Ga DOTATATE PET/CT showed radiotracer avid metastatic disease of the liver, mesentery, and peripancreatic lymph nodes, with a maximum standard uptake value (SUVmax) of 23.9, indicating that the previously identified disease progression was somatostatin receptor positive (, Arrow: Metastasis to Liver). Surprisingly, the scan also showed focal, intense uptake of the prostate with an SUVmax of 17.4 [, arrows]. With concern that this could represent NEPC, the patient underwent ultrasound-guided biopsy of the prostate. Twelve core biopsies showed multiple foci of acute and chronic inflammation, no organisms, and no concern for neoplasm. The patient has since begun 177Lu-DOTATATE therapy for his disease and is doing well 8 months later.\nOUTPUT:" }, { "from": "agent", "value": "Metastatic Neuroendocrine Tumor" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 20 year old boy presented to our department with decreased vision, redness and watering of both eyes following electrocution with overhead transmission wires six days ago. The electricity transmission wires were carrying a high voltage of approximately 20,000V. He had multiple eschars on the back, scalp and arms along with facial erythema []. His best-corrected visual acuity was light perception in the right eye and counting fingers in the left eye with normal intraocular pressures. There was a lid scaling and charring of the eyelashes. and ]. Fundus fluorescein angiogram showed a normal retinal circulation with late hyperfluorescence corresponding to the area of opacification. Optical coherence tomography (OCT) showed retinal thickening with few cystoid spaces in the right eye []. Similar changes were seen the left eye (not shown). Patient was started on oral corticosteroids (prednisolone 30 mg/day) and acetazolamide (750 mg/day in three divided doses). Steroids were given to control inflammation arising from the injury, if any, and oral carbonic anhydrase inhibitor were added to reduce cystic fluid collection by possible stimulation of the retinal pigment epithelium (RPE) pump. [] Acetazolamide was withdrawn after 1 month and oral steroids were discontinued after another month by gradual tapering. OCT of both the eyes showed retinal atrophy with disorganization of all retinal layers and the RPE [].\nOUTPUT:" }, { "from": "agent", "value": "Peripapillary retinal thermal coagulation, Superficial punctate keratitis, Cataract" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 5-year-old female initially presented to the emergency department (ED) after trauma, which was thought to be responsible for left eye swelling and headaches. Persistent eye swelling and headaches led to hospital admission. Imaging work-up demonstrated lytic lesion in the left supraorbital region with associated soft tissue lesion on computed tomography (CT) scan of the head []. There was increased uptake on bone scan []. This mass was biopsied and the findings were consistent with LCH. The patient was treated with vinblastine with complete resolution of the lytic lesion 8 months after diagnosis. Patient was lost to follow-up subsequently due to social issues.\\nPatient represented to the ED at 11 years of age with worsening headaches, unsteady gait and blurry vision. Magnetic resonance imaging (MRI) at the time of admission demonstrated enhancing lesions in the cerebellum []. Post-contrast T1 post-contrast sagittal image showed enhancing lesions []. Diffusion weighted images showed multiple areas of diffusion restriction []. Corresponding ADC map confirmed dark areas consistent with increased cellularity []. Patient underwent an emergent ventriculostomy drain placement and subsequently underwent stereotactic biopsy of the right cerebellar lesions. Follow up MRI brain performed 2 days later to evaluate the improvement in the compression of the brain stem in-fact demonstrated worsening cerebellar edema []. There was significant brain stem compression []. Pathology demonstrated findings consistent with LCH. Her condition started to deteriorate. This prompted emergent posterior fossa decompression via suboccipital craniotomy and C1 laminectomy. Complete laboratory and radiology work up including skeletal survey was performed. No osseous lesions were identified at the time of the second presentation. Patient was discharged to inpatient rehabilitation service in stable condition approximately 2 weeks after admission. She completed 12 cycles of cytarabine and IVIG subsequently and tolerated them without incidence []. She was discharged from rehabilitation and she returned to school and resumed activities of daily living. She is in complete remission for 15 months. MRI of the brain performed as a follow up examination demonstrated no residual lesions.\nOUTPUT:" }, { "from": "agent", "value": "Langerhans cell histiocytosis, Obstructive hydrocephalus" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The patient's current medication included human Mixtard insulin (30/70), 16 U before breakfast and 10 U before dinner.\\nAt presentation, the patient was drowsy with Glasgow coma scale of 13/15. His pulse rate was 110/min, respiratory rate 28/min, oxygen saturation of 95% at room air, and blood pressure 150/90. Physical examination was unremarkable. Systemic examination showed: bilateral equal and reacting pupils with no meningeal signs and no focal neurological deficits. Respiratory, Cardiovascular and abdominal examination were unremarkable.\\nIn the emergency department, the patient developed generalized convulsions with loss of consciousness. He was intubated and managed initially with intravenous lorazepam. In the intensive care unit, he was managed with insulin and symptomatic treatment.\\nInvestigations at presentation showed: Hemoglobin 13.3 gm/dl, leukocyte leukocyte count 16800/μl, red blood cell count 4.41 million/cmm, platelet count 375000/μl, blood sugar 298 mg/dl, serum osmolality 277 mosmol/kg, and normal serum lactate level. An arterial blood gas analysis showed metabolic acidosis: pH 7.34, pO2 81, pCO2 24, HCO3 16, and pO2/FiO2 385. He had normal urine analysis, serum electrolytes, liver, renal, and thyroid function. MRI scans of brain showed chronic ischemic changes due to small vessel disease. ECG and radiograph of the chest were normal.\\nInvestigations repeated on day 2, 3, and on discharge showed: Normal electrolytes, arterial blood gas, liver, and renal function. During the course of illness, he remained drowsy for 4 days and recovered without any complications. He was discharged after 1 week.\nOUTPUT:" }, { "from": "agent", "value": "Neem oil poisoning, Toxic encephalopathy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: There were no issues in the course of the surgery. Immediate postoperative plain radiographs of the hip showed anatomical fracture reduction, with three subchondrally placed and not fully extended telescoping screws (Figure 1c, d). Her postoperative course was uneventful and the patient was able to ambulate with a walker at discharge. Hip radiographs at discharge revealed only a minimal (3 mm) amount of sliding on all telescrews, with no change in telescrew position within the femoral head (Figure 1e, f). At the follow-up appointment at sixth postoperative week, the patient ambulated with a walker, felt occasional pain in the right groin and exhibited reduced range of rotational motion in that hip. Hip radiographs showed that two of the three telescoping screws had slid 6 mm within the telescrew barrel, but the inferior posterior telescoping screw had become fully extended and was cutting through the femoral head (Figure 2a, b). The patient was offered revision surgery for the protrusion of the screw in her hip, but she declined. At the third-month appointment, the patient ambulated with a walker, and the pain in her right groin had alleviated. Hip radiographs revealed not-healed FNF and equal 12 mm sliding on all three telescoping screws (Figure 2c, d). The inferior screws were completely collapsed and the proximal screw was partially extended and cutting through the femoral head (Figure 3c, d). A written informed consent was obtained from the patient.\nOUTPUT:" }, { "from": "agent", "value": "Femoral neck fracture, Femoral neck nonunion, Osteoporotic, Diabetes mellitus type 2, Arterial hypertension" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The first patient is a 33-year-old male who was in a motorcycle accident September 2014. He was sent home after a 45-day hospital stay. At the surgery on October 27, the fasciotomy was extended, and debridement was to the level of the bone. The lateral compartment at that time measured 23 cm x 6 cm x 3 cm. The patient expressed considerable depression and frustration at another prolonged hospital stay; he was anxious to return home. In an effort to accelerate the granulation tissue and return the patient home as soon as possible, a VAC VeraFlo was applied on October 31. This was the first time the VAC VeraFlo had ever been used in our hospital, and there were no established guidelines yet for instillation and dwell time. On November 7, 2014, there was granulation tissue over bone. The patient was discharged home on November 8, 2014, on oral antibiotics.\nOUTPUT:" }, { "from": "agent", "value": "Open right tibia-fibula fracture, Wound infection, Necrotic tissue in the lateral fasciotomy site" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: BCVA was 1.0 in his right eye and 0.2 in his left eye. Subretinal lipid exudates in the temporal and nasal retina with local vascular telangiectasis was observed in the left eye (Fig. a). A fluorescein angiogram (FFA) revealed hyperfluorescence of the telangiectatic bulbs, and leaking vessels in the temporal and nasal regions (Fig. a, b). (Fig. c). Before he presented to our clinic, he had received 11 intraocular injections of an anti-VEGF drug (Conbercept) and five laser treatments. Initially, he responded well to anti-VEGF drugs; however, there was no improvement after the final injection (Fig. d). When he presented to our clinic, he was treated with another anti-VEGF drug via intraocular injection (Aflibercept) and aqueous humor was obtained before the injection. Aqueous humor cytokine concentrations detection showed that VEGF was lower than normal, while VACM, IL-6 and IL-8 were at a very high level (Table ). d, e); however, it increased to 490 μm again after 2 weeks (Fig. f). In consideration of the high inflammatory factors and lower VEGF level, an intraocular steroid (Ozurdex®) injection was administrated. b, c).\nOUTPUT:" }, { "from": "agent", "value": "Adult-onset Coats’ disease, Macular edema" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 71-year-old male patient with NSCLC (not otherwise specified) without EGFR-sensitizing mutation or ALK translocation (cT3N2M0, stage IIIA) was treated with a combination of carboplatin, nab-paclitaxel, and pembrolizumab for four cycles, followed by pembrolizumab maintenance therapy for two cycles. This led to a partial response with remarkable tumour shrinkage.\\nHowever, he complained of headache on day 6 of second cycle of pembrolizumab maintenance therapy, which was followed by low vision and auditory disturbance after nine days.\\nHe referred to the Department of Ophthalmology and the following findings were obtained in both eyes: anterior granulomatous uveitis with mutton-fat keratic precipitates on the corneal endothelium via anterior segment photography (Fig. A, B), posterior synechia after atropine instillation, retinal detachment via fundus photography (Fig. C, D), and optical coherence tomography (OCT; Fig. E, F), as well as disseminated spotted choroidal hyperfluorescence via fluorescein fundus angiography. The cerebrospinal fluid (CSF) contained 215 white blood cells per mm3 with increased lymphocyte up to 98%. CSF protein was elevated at 196 mg/dL and CSF glucose was as low as 38 mg/dL when plasma glucose was 123 mg/dL. He showed alopecia as a cutaneous finding. Audiograms showed auditory disturbance (Fig. I).\\nThus, he was diagnosed as VKHD and pulse corticosteroid therapy with 500 mg of methylprednisolone for three days was initiated, which was followed by 30 mg of oral prednisolone therapy which was tapered off according to the ocular status and was discontinued after 12 weeks. The visual and auditory acuity improved and headache was relieved after treatment, which was accompanied by the improvement in findings five days after steroid initiation in anterior segment photography (Fig. C, D) and OCT (Fig. G, H). Auditory disturbance also improved through steroid treatment after 30 days (Fig. J). The therapy was quite effective and the patient remained symptom free for three months after the discontinuation of oral corticosteroid therapy.\nOUTPUT:" }, { "from": "agent", "value": "Vogt–Koyanagi–Harada disease, non-small cell lung cancer" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 39-year-old man visited our hospital because of two enlarging dusky-colored patches on his chin and forehead, both of which appeared 1 month prior to his visit. Two months later, he experienced sudden onset of chest pain and difficulty breathing. Laboratory tests showed high levels of white blood cells (10,600/µL) with 73.5% granulocytes and serum lactate dehydrogenase of 679 IU/L. The patient’s CD4 T-cell count had decreased to 19 cells/µL. Hepatitis A, B, or C viruses were not detected. Computed tomographic scans of his chest revealed a 5.8-cm emphysematous bulla in the right middle lobe of his lung, while the left lobe showed diffuse ground glass opacities, suggestive of interstitial pneumonia (). The patient underwent wedge resection of the lung, which grossly revealed a multilocular bullous cavity surrounded by whitish pneumonic consolidation (). Microscopically, aggregates of atypical lymphoid cells were floating in the bullous cavity without forming solid masses. These cells showed medium to large pleomorphic nuclei with prominent nucleoli and basophilic cytoplasm, revealing plasmablastic features (). Through immunohistochemistry, tumor cells were found to exhibit a non-germinal center B-cell nature showing positivity for CD20, CD79a, and MUM1 but negativity for CD3, CD10, BCL6, CD30, and CD138. The Ki-67 labeling index reached up to 80%–90%. Tumor cells were positive for EBV-encoded RNA in situ hybridization, EBV latent membrane protein-1 (LMP1), EBV nuclear antigen-2 (EBNA-2), but negative for HHV8. Therefore, the patient was diagnosed with EBL, not PEL, arising in the PJP-associated cavitary lung lesion. He was treated with highly active antiretroviral therapy along with anti-microbes for 6 months, followed by chemotherapy.\nOUTPUT:" }, { "from": "agent", "value": "Human Herpesvirus 8-Negative and Epstein-Barr Virus-Positive Effusion-Based Lymphoma, Human Immunodeficiency Virus, Kaposi sarcoma, Pneumocystis jirovecii pneumonia" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The local ambulance service was contacted for an 83-year-old man with a history of chronic obstructive pulmonary disease, who complained of dyspnea and cough that had persisted for a few hours. The patient was found in respiratory arrest; therefore, cardiopulmonary resuscitation was initiated by paramedics upon arrival. Cardiopulmonary resuscitation was interrupted after 10 minutes because of the return of spontaneous breathing. During resuscitation, the automated external defibrillator did not detect any shockable rhythm. Lab findings showed troponin I level above the normal range (0.3 ng/mL).\\nA few days after admission to the Internal Medicine ward, the patient experienced chest pain that was poorly responsive to nonsteroidal anti-inflammatory drugs and paracetamol. Thus, the Internal Medicine staff sought a pain service consultation. Upon pain evaluation, the patient reported severe pain over the anterior thorax (numerical rating scale 7-8), which prevented him from coughing, moving, and breathing fully. In addition, his capacity to cough was restored, and he could move and breathe deeply. Due to the recurrence of pain, the PECS II block was repeated, 48, and 80 hours after the first block. The patient’s chest pain could be managed with nonsteroidal anti-inflammatory drugs and paracetamol. On day 20 after admission, his clinical condition improved, and he was transferred to another institution for rehabilitation.\nOUTPUT:" }, { "from": "agent", "value": "Bilateral Pneumonia, Multiple Bilateral Anterolateral Rib Fractures, Sternal Body Fracture" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: An 18 year old male was stung on face, head, shoulders and upper limbs by multiple hornets while sitting under a tree. He developed severe pain at the site of the bites and was managed at local hospital. A day later he developed oliguria and by next day became anuric and developed nausea and vomiting, following which he was referred to our hospital. At admission, on examination, he was conscious and had mild pallor. The systemic examination was normal. Twenty-seven sting marks were found on face, shoulders and upper limbs.\\nInvestigations revealed hemoglobin of 7.6 g/dl platelet count of 529,000/mm3; TLC of 16200/mm3 with peripheral blood film revealing microcytes, micro-ovalocytes, macrocytes with hypochromia. Blood biochemistry revealed urea 310 mg/dl, S. creatinine of 9.2 mg/dl. Serum CPK and transaminases (AST & ALT) were within normal limits. He had normal urinalysis. There was no evidence of intravascular hemolysis as urine was negative for hemoglobin and plasma hemoglobin was less than 20 mg/dl. However despite repeated hemodialysis, his urea and creatinine remained persistently high so kidney biopsy was undertaken after two weeks. It revealed 12 normal glomeruli, focal interstitial infiltration with eosinophils and lymphocytes with hyaline and pigmented granular casts in the tubules (fig ). In a focal area, the interstitial inflammationwas accompaniedbyinterstitial edema and few dilated tubules lined by flattened epithelium. This may besuggestive ofaccompanyingfocal/patchy acute tubular necrosis.\\nHe was started on prednisolone 50 mg/day. Gradually his urine output increased to more than 1.5 liter/day and he was discharged when his serum creatinine decreased to 3 mg/dl. His nutritional anemia recovered on follow up with supplementation of Iron, Vitamin B12 and folic acid. His steroids were tapered over next four weeks and he recovered completely.\nOUTPUT:" }, { "from": "agent", "value": "Acute tubulo-interstitial nephritis, Acute renal failure" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 12-year-old boy, right-handed presented with a sudden onset change in voice for 5 days before hospitalization. He denied any history of fever, headache, convulsion, or any limb weakness. On examination, there was left-sided palatal weakness without any other neurological signs. Systemic examination was within normal limits. The patient was evaluated as shown in below. The patient was treated with 5 days pulse steroids-intravenous methylprednisolone, followed by tapering course of oral steroids (60 mg oral prednisolone for 8 weeks followed by a taper 5 mg every 2 weeks) and he fully recovered.\\nHowever, 5 months after stopping steroids, he presented again with slurring of speech and dribbling of saliva from the right side of the mouth. On examination, he had right-sided upper motor neuron facial palsy with right-sided cerebellar ataxia. Rest of the neurological examination was normal. His repeat MRI was suggestive of near total resolution of old lesions with appearance of new lesions of similar morphology in bilateral frontoparietal periventricular white matter as well as in the right brachium pontis extending to superior cerebellum showing irregular peripheral enhancement [ and ].\\nMRI spine was normal. The patient was retreated with intravenous methylprednisolone and started on azathioprine. Weakness resolved completely with no residual neurodeficit.\\nTwo months later, he presented third time with dragging of the left foot while walking and difficulty in doing work with the left hand. On examination, left-sided pronator drift was present. Power in the left upper and lower limb was Grade 4. He had exaggerated reflexes on the left side with positive Babinski's sign. At 1-year follow-up, he is stable without any further attacks and no neurodeficit.\nOUTPUT:" }, { "from": "agent", "value": "Multiple Sclerosis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: As per his records, he was taking topiramate 100 mg twice daily and lamotrigine 200 mg twice daily, but compliance had been an issue.\\nOn examination, he was uncooperative. He was constantly making religious remarks, saying “God is with me and I do not need doctors or medications.” He would interpret every question asked to him as questioning his faith and at times attempted to convert doctors and staff to Islam. He believed everyone around him was preventing him from obtaining salvation. The remainder of the neurological exam, including cranial nerves, motor examination, sensations, reflexes, coordination, and gait, was grossly normal. Initially, he was thought to have an acute psychotic episode. Psychiatry, however, was concerned that his religious comments and paranoia regarding his treatment in the hospital may be a part of his epilepsy.\\nHis family was eventually contacted after multiple attempts and they reported that he had a generalized tonic-clonic seizure two days prior to being hospitalized and after the generalized seizure he started having increasing religious thoughts. The wife called an ambulance because she was frightened by his excessive religious speech. She was not sure when he stopped taking his medications. She reported that he had a history of epilepsy of unknown etiology since the age of 20. The most common seizure semiology was generalized tonic-clonic seizures but occasionally, he would have episodes of hyperreligiosity with secondarily generalized events. There was no mention of aura preceding any of the generalized seizures. These similar episodes of hyperreligiosity in the past occurred when he did not take his antiepileptic medications (AEDs). He did not have a history of psychiatric disease. An EEG showed right-sided frontotemporal sharp waves. His hyperreligiosity was deemed to be due to his epileptic activity. He refused intravenous AEDs, as he believed it was antireligious poison but was convinced to take his home medications. After three days of treatment, he became more alert. His wife noted that he returned to baseline and was discharged home with follow-up with his neurologist.\nOUTPUT:" }, { "from": "agent", "value": "Temporal Lobe Epilepsy" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 31-year-old female reported with swelling and mobile teeth in right upper posterior region of maxilla and she had noticed the swelling and mobile teeth 2 months back. The condition gradually increased in severity. After 1 month, she developed a dull pain in 16, radiating to tempero-mandibular joint, and back of head and neck region.\\nExamination revealed a firm to bony hard swelling of 2 cm2 × 1 cm2 extending from 13 to 17 regions, bi-cortical expansion with more expansion of buccal aspect and mild tenderness on palpation. Teeth associated were mobile with grade-I mobility in 13, 17 and grade-II mobility in 14, 15 and grade-III mobility in 16 [].\\nRadigraphic examination revealed a well-defined multilocular radiolucency with irregular borders extending from 13 to 17 with root resorption in 16 and root displacement in 15, 17 []. Computed tomography (CT) scan images revealed an expansile mass in the right maxilla causing enlargement and destruction of buccal, palatal cortices and floor of maxillary sinus [].\\nClinical diagnosis of odontogenic tumor was made. Biopsy was taken and 16 was extracted.\\nThe histopathologic examination revealed well-developed thyroid follicles with abundant periodic acid Schiff (PAS) positive staining colloid material resembling thyroid tissue [Figures and ]. A metastatic work-up was carried out. Ultrasonography of neck showed degeneration of the left lobe of thyroid gland, and neck examination revealed a multinodular goiter. Metastatic lesions were found in the right maxilla and the right leg and were treated by Iodine radioactive ablation. Patient with follow-up period of 7 years is healthy without any recurrence.\nOUTPUT:" }, { "from": "agent", "value": "Metastatic follicular carcinoma of the thyroid" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: A 5-year-old male child was admitted with history of high grade (102.6°F), intermittent fever associated with loose motions, and vomiting for 3 days. There was no history of any drug intake prior to admission except WHO oral rehydration solution. On examination, child had clinical features suggestive of shock (blood pressure <3rd centile, cool extremities, weak and thready pulse, capillary refill time >3 seconds, and tachycardia). Abdomen examination revealed distension with features of peritonitis. Child received 3 fluid boluses (normal saline at 20 mL/kg, each) and inotropes along with intravenous antibiotics. On investigation, hemoglobin was 10 gm/dL, white blood cells were 25000 cells/mm3, and platelet count was 90,000 cells/mm3. Antigen test for the same was positive for Plasmodium falciparum. Child was started on intravenous artesunate and clindamycin as per WHO guidelines. Plain X-ray abdomen showed gas under diaphragm (). Child was considered for laparotomy and further proceed. During laparotomy, midline incision released a large amount of free gas along with 500 mL of bile stained fluid contaminated with food. The postoperative course was uneventful. He was discharged on day 10 after surgery.\nOUTPUT:" }, { "from": "agent", "value": "Severe Malaria, Duodenal Perforation" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: He had initially presented to the Emergency Department with acute-on-chronic pain in his leg following a fall from his bicycle. He had taken codeine 30 mg four times daily for 1 day before presenting to the hospital. He was given 30 mg codeine at 1400 h, 10 mg oral morphine at 1450 h and 15 mg oral morphine at 1555 h that day. On the day of his operation, he was given 3 mg i.v. morphine immediately post-operatively and then 60 mg oral morphine and 100 mg tramadol in divided doses throughout the day. On the following day, he continued to experience pain and was given 50 mg oral morphine and 100 mg tramadol throughout the day. His basal pituitary function was assessed and found to be abnormal. He was started on hydrocortisone therapy and discharged home with a small supply of tramadol 100 mg on an ‘as-required’ basis, with endocrine follow-up being arranged. Endocrine follow-up took place 1 month later. On examination at endocrine follow-up, he looked healthy and had good muscular development, but appeared to be a little young for his age, had rather sparse body hair, well-developed pubic and genital hair, and a normal penis and testicles, which were bilaterally 15 ml. He reported a gradual increase in body bulk and hair, regular morning erections and occasional shaving; his voice changed about the same age as his peers, and he had normal eyesight and no headaches. He did not have any other significant past medical, family or social history, and the rest of the examination was unremarkable.\nOUTPUT:" }, { "from": "agent", "value": "Adrenal insufficiency, Hypopituitarism, Slipped upper femoral epiphysis" } ]

[ { "from": "human", "value": "As a physician engaged in clinical diagnostic reasoning, here is a case report from Pubmed, please analyze the input and accurately identify the diagnosis presented within it.\nINPUT: The second brother is an 11-year-old boy, a product of a full-term, spontaneous vertex delivery, with a birth weight of 3.2 kg. At day two of life, he developed a seizure, which was tonic and become atonic with postictal sleep. He had hyperactivity with attention deficit and developmental delay - he sat at 16 months and started to walk with support at age two years, had also delayed speech: at 2 ½ years, he said only two words. On examination, the patient had mild dysmorphic features, his head circumference was at the 50th percentile and length at the 50th percentile. He has short palpebral fissure, hypertelorism, epicanthal folds, bitemporal narrow, post-posterior sloping of hair, low set ears with mild micrognathia, high arch of the palate, clinodactyly, and nystagmus. The patient underwent extensive biochemical and metabolic workup that includes a tandem MS, urine GCMS, lactate, CPK, plasma amino acid, and liver function test; all were inconclusive. MRI brain showed agenesis of the corpus callosum (Figure ). Figure shows Patient 2.\\nKaryotype was 46,XY normal male, array CGH showed pathogenic reduced dosage of genomic material in terms of a heterozygous deletion (approx. 9.9Mb) on the long arm of chromosome 6 (heterozygous deletion in 6q25.3-q27 (160,849,200-170,748,862)) with causative relevance for the phenotype. Sanger confirmed a pathogenic variant in MED12(NM_005120.2):c.3797G>A (p.R1266H) in the exon 27 gene. He did not develop obesity like his brother. There is a history of paternal methotrexate ingestion before his conception. The third brother, however, had normal development, normal CGH array, and carried the same MED12 variant; the father was off methotrexate for more than five months during the conception of this third boy.\nOUTPUT:" }, { "from": "agent", "value": "Intellectual Disability, Unbalanced Translocation (13;18) (q34,q23), Microdeletion 6q25 Syndrome" } ]