id stringlengths 23 25 | dataset stringclasses 1
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values | document stringlengths 995 12k | questions listlengths 1 13 | ground_truth_arguments listlengths 1 18 |
|---|---|---|---|---|---|
CaseReportBench:train-511 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case Presentation': 'A 22-year-old Hispanic female with a past medical history of dysmenorrhea and recurrent urinary tract infections (UTIs), previously diagnosed by her primary care physician, presented with an 8-day history of no bowel movements and diffuse abdominal pain. The abdominal pain was described as a full... | [
"Which specific laboratory test results in the case document confirm a biochemical diagnosis of acute intermittent porphyria?",
"What pattern of plasma and urine porphyrin fractionation is described as supporting acute intermittent porphyria?"
] | [
"biochemical diagnosis of AIP ."
] |
CaseReportBench:train-188 | CaseReportBench | Age-at-Presentation | {'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHE... | [
"What is the age of the boy (XY2) at the time of presentation?"
] | [
"seven years of age"
] |
CaseReportBench:train-129 | CaseReportBench | Patient-History | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | [
"What demographic information and setting of the initial presentation are described for the patient?",
"When did the patient's symptoms begin, and what were the nature and typical frequency of the early symptoms?",
"What prior medical consultations did she have before admission, and were any diagnoses establish... | [
"A 37 - year - old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital ( May 2019 ). Her symptoms had started 4 months previously ( January 2019 ). The initial symptoms included recurring abdominal pain and bloating ( almost once... |
CaseReportBench:train-333 | CaseReportBench | Confirmed-Diagnosis-IEM | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | [
"What type of genetic finding was reported in the patient, and what category of disorder does it suggest?",
"Which gene was identified with a pathogenic variant, and what general diagnosis is associated with such a finding?",
"What evidence was used to confirm the final diagnosis in this case?",
"What specifi... | [
"confirmed the diagnosis of autosomal dominant AIP"
] |
CaseReportBench:train-452 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | [
"What category of disease is being addressed in the case report?"
] | [
"CTX",
"CTX"
] |
CaseReportBench:train-539 | CaseReportBench | Gastrointestinal-System | {'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,... | [
"How are the gastrointestinal symptoms of the second infant described in the case report?"
] | [
"vomiting and diarrhea"
] |
CaseReportBench:train-464 | CaseReportBench | Gastrointestinal-System | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | [
"What weight-related symptoms did the patient present with upon admission?",
"Which abdominal symptoms did the patient experience before surgery and during the postoperative period?",
"During the ICU stay, which gastrointestinal symptoms were reported as absent?"
] | [
"weight loss,",
"abdominal pain",
"no symptoms such as abdominal pain"
] |
CaseReportBench:train-203 | CaseReportBench | IEM-Treatment | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | [
"What low‑protein diet was recommended after the argininemia diagnosis?",
"What supplement was advised following the diagnosis?",
"What therapeutic goal was stated for the low‑protein diet in the treatment plan?"
] | [
"Following the diagnosis , we recommended that the patient begins a low - protein diet ( 0.8 g / kg / day ) to decrease his blood arginine levels , as well as start taking citrulline ( 150–200 mg / kg / day ) ."
] |
CaseReportBench:train-538 | CaseReportBench | Neurology | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | [
"What was the patient's mental developmental history?"
] | [
"mental developmental history were normal"
] |
CaseReportBench:train-524 | CaseReportBench | Laboratory-and-Imaging | {'Case 2': 'An 18-year-old girl was admitted to our hospital following development of generalized tonic-clonic seizure in November 2016. Ten days ago, she was diagnosed with ileus because of abdominal pain as well as constipation in her local hospital. However, the symptoms were not relieved and a series of tests inclu... | [
"Which abdominal imaging modalities (X‑ray, CT, ultrasound) were performed for the patients and what were their findings?",
"What electrolyte and liver function abnormalities were reported in the female patient, including sodium, potassium, AST, ALT, and bilirubin levels?",
"What serologic tests for autoimmune ... | [
"and a series of tests including abdominal X - ray, CT scan, and ultrasound were normal",
"Except for remarkable hyponatremia of 104 mmol / L, her serum potassium was 3.0 mmol / L, aspartate transaminase 243 U / L, alanine transaminase 142 U / L, and total bilirubin 37 μmol / L. Tests for antinuclear and anticar... |
CaseReportBench:train-140 | CaseReportBench | Dermatology | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | [
"Provide a concise summary of the dermatologic examination, noting any skin lesions (or lack thereof) and the histopathologic findings from the skin biopsies."
] | [
"no typical plucked - chicken appearance, no papules, macules or other skin lesions. Three biopsies from the flexural skin of the axilla and the neck did not reveal PXE related changes"
] |
CaseReportBench:train-108 | CaseReportBench | Age-of-Onset | {'Case Report': 'We report on a 5-year-old girl with a history of pink-stained urine as a newborn. Disease onset occurred in the tenth month of life. Her deciduous teeth sprouted with a red-brown color. She also suffered from episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs withi... | [
"At what age did the disease first manifest in the patient?"
] | [
"Disease onset occurred in the tenth month of life"
] |
CaseReportBench:train-27 | CaseReportBench | Endocrinology | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | [
"What type of diabetes does the patient have and how long has it been diagnosed?",
"Describe the condition of the patient's axillary, pubic, and facial hair and any noted voice characteristics.",
"How does the patient's glycemic profile (fasting glucose, random glucose, and HbA1c) compare to normal reference ra... | [
"as Type 1 diabetic",
"Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal",
"fasting blood glucose level of 250 mg / dL and random blood sugar of 338 mg / dL with glycated hemoglobin 10.2 %",
"serum testosterone, follicle stimulating ho... |
CaseReportBench:train-172 | CaseReportBench | Vitals-and-Hematology | {'Case Report': 'A 13-year-old boy born out of a consanguineous marriage presented to the outpatient department with hyperpigmentation and hypertrichosis of lower extremities and trunk for last 4 years. The patient also had hearing loss for more than 5 years which was progressive and was using hearing aid for the same.... | [
"What is the patient's measured height and the expected normal height for his age?",
"What is the patient's hemoglobin concentration reported in the laboratory findings?"
] | [
"short stature for his age ( 131 vs. 154 cm )",
"haemoglobin to be 6.7 g / dl."
] |
CaseReportBench:train-247 | CaseReportBench | Age-of-Onset | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | [
"At what age or age range did the patient first experience symptoms such as muscle stiffness, calf cramps, urinary frequency, or spastic paraparesis?"
] | [
"her twenties",
"her twenties"
] |
CaseReportBench:train-495 | CaseReportBench | Age-at-Presentation | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | [
"At what age did the patient first present with symptoms?"
] | [
"15‐day‐old"
] |
CaseReportBench:train-72 | CaseReportBench | Age-of-Onset | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | [
"At what age did the proband first present with symptoms (e.g., acute viral fever and laboratory abnormalities)?",
"What was the age of the proband’s sister when she was screened and diagnosed?"
] | [
"4 years of age ,",
"3 - year - old"
] |
CaseReportBench:train-242 | CaseReportBench | Cardiovascular-System | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | [
"What systemic medical conditions or comorbidities are reported for the patient in the case description?"
] | [
"hypertension"
] |
CaseReportBench:train-481 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case 2': "The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limb... | [
"What congenital eye abnormalities are described in the patients' histories?"
] | [
"congenital cataract,"
] |
CaseReportBench:train-222 | CaseReportBench | Age-of-Onset | {'2. Case presentation:': 'A 13-year-old girl with no history of medical or familial diseases presented to the emergency department of Al-Araby international Hospital, Monufia, Egypt with severe abdominal pain, constipation, and headache, which had started 10 days ago. Within the next few days following admission, the ... | [
"What is the age of the patient?"
] | [
"13 - year - old"
] |
CaseReportBench:train-62 | CaseReportBench | Age-of-Onset | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | [
"At what age did the patient first develop facial hair or other virilizing signs?"
] | [
"8 - year - old ."
] |
CaseReportBench:train-230 | CaseReportBench | Pregnancy | {'Patient Consent': 'Patient consent was obtained.', 'Case Presentation': 'A 24-year-old woman with infantile nephropathic cystinosis and stage G2A3 chronic kidney disease (CKD) was referred for preconception counseling. Cystinosis was confirmed by an elevated leucocyte cystine level in infancy. Early diagnosis, made p... | [
"What was the maternal blood pressure status throughout pregnancy and was there any evidence of gestational hypertension or pre‑eclampsia?",
"What urinary tract infection complications occurred during pregnancy, including timing, recurrence, and any associated bacteremia or specific pathogens?",
"What obstetric... | [
"Blood pressure remained normal with no evidence of gestational hypertension or pre - eclampsia",
"The pregnancy was complicated by recurrent urinary tract infections ( UTIs ) in the first and second trimesters, and a complicated UTI at 29 weeks with Staphylococcus epidermidis bacteriuria and bacteremia",
"She ... |
CaseReportBench:train-573 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case Report': 'XY2 is a boy of seven years of age with X-linked hypophosphatemia. He inherited this genetic disorder from his mother, who in turn inherited it from her father. Mutations in the PHEX gene to Xp22.1 are responsible for the clinical impression of X-linked hypophosphatemia. A molecular analysis of the PHE... | [
"What X‑linked metabolic disorder is confirmed as the diagnosis in the patient?"
] | [
"X - linked hypophosphatemia"
] |
CaseReportBench:train-19 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2... | [
"What vestibular or balance-related symptoms did the patient report?",
"Describe the patient's hearing impairment, including its laterality, possible cause, and any use of hearing aids.",
"What visual disturbances did the patient experience during her illness?"
] | [
"dizziness",
"bilateral hearing loss of unknown etiology requiring hearing aids since age 46 years",
"blurred vision,"
] |
CaseReportBench:train-488 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Case report': "A 27-year-old nulliparous woman, a diagnosed case of 21-hydroxylase deficient simple virilizing form of classic CAH visited our department from the endocrinology department for pregnancy maintenance. Her diagnosis had been identified at eleven years old with a high testosterone level, raised 17-hydroxy... | [
"What type of congenital adrenal hyperplasia has been diagnosed in this patient?"
] | [
"a diagnosed case of 21 - hydroxylase deficient simple virilizing form of classic CAH"
] |
CaseReportBench:train-273 | CaseReportBench | Dermatology | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | [
"Describe the clinical swellings noted on examination, including their locations and physical characteristics.",
"What soft‑tissue abnormalities were identified on radiographs or MRI of the ankle region?",
"What MRI signal characteristics were observed in the subcutaneous tissue of the swelling, and what was th... | [
"right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints",
"soft, non - tender swelling along the posterior aspect of both ankle joints, as well as right malar emminence",
"tissue swellings along the posterior aspect of both ankle joints and calcaneal bones",
"Hyopint... |
CaseReportBench:train-50 | CaseReportBench | IEM-Treatment | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | [
"For the male sibling (Case 2), at what age was metreleptin therapy started, what dose (mg/kg/day) was given, and what immediate changes in hyperinsulinemia and hyperlipidemia were reported?",
"For the female sibling (Case 1), at what age was metreleptin trial enrollment and treatment begun, what dose (mg/kg/day)... | [
"At 11 yr and 6 mo of age , metreleptin was introduced at a dose of 0.04 mg / kg / d , and there was an immediate improvement of hyperinsulinemia and hyperlipidemia",
"At 11 yr and 5 mo of age , she was enrolled in a clinical trial of metreleptin . Metreleptin treatment was initiated at a dose of 0.06 mg / kg / d... |
CaseReportBench:train-250 | CaseReportBench | Genitourinary-System | {'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,... | [
"How were the newborn's external genitalia described at birth?"
] | [
"normal female external genitalia"
] |
CaseReportBench:train-7 | CaseReportBench | Confirmed-Diagnosis-IEM | {'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,... | [
"What is the confirmed diagnosis for the newborns described in the case report?",
"Which specific inborn error of metabolism is associated with the homozygous c.772C>T mutation in the StAR gene?",
"What disorder was identified in both the first and second child based on clinical, laboratory, and genetic finding... | [
"CLAH"
] |
CaseReportBench:train-342 | CaseReportBench | IEM-Treatment | {'CASE REPORT': "In 1986, a previously healthy 18-year-old male presented to our hospital with a 1-week history of fever, headache and vomiting. Meningism, but no focal neurological signs, was noted on examination. Lumbar puncture was performed, revealing slight elevation of protein in the cerebrospinal fluid (CSF) but... | [
"What mitochondrial supplement was initiated for the patient?"
] | [
"treatment with coenzyme Q 10 was started"
] |
CaseReportBench:train-268 | CaseReportBench | Endocrinology | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | [
"Describe any breast changes noted in the examination.",
"Describe the patient's secondary sexual characteristic findings.",
"Provide the serum cortisol and testosterone concentrations and comment on whether they are within normal limits."
] | [
"gynecomastia",
"pubic hair presents in normal distribution",
"elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL )"
] |
CaseReportBench:train-147 | CaseReportBench | Dermatology | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | [
"What findings regarding hirsutism were reported for the patients?"
] | [
"no hirsutism"
] |
CaseReportBench:train-169 | CaseReportBench | Age-at-Presentation | {'Chief complaints': 'Recurrence of abdominal pain, nausea, and vomiting in a kidney transplant patient.', 'Personal and family history': 'The patient had no known family history of porphyria.', 'CASE SUMMARY': 'The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangio... | [
"What was the patient's age at the time of presentation?"
] | [
"65 - year - old",
"65 - year - old"
] |
CaseReportBench:train-320 | CaseReportBench | Patient-History | {'Case Report': "A 21-year-old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009. Emergent colonoscopy was performed with the findings of (1) a large amount of blood in the rectum and sigmoid colon and (2) oozing from eroded rectal mucosa. Laboratory investigation reve... | [
"What basic demographic and admission information is reported for the patient (e.g., age, sex, presenting complaint, and admission date)?",
"What prior history of rectal bleeding, if any, did the patient have before this sudden hemorrhage?",
"What elements of the patient’s past medical history are noted, includ... | [
"A 21 - year - old male patient suffering from sudden rectal hemorrhage was admitted to a general hospital in July 2009",
"no previous significant rectal bleeding.",
"His past medical history was unremarkable except for occasional nasal bleeding during childhood"
] |
CaseReportBench:train-483 | CaseReportBench | Age-at-Presentation | {'Case Report': 'Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity o... | [
"What are the ages of the patients as explicitly stated in the form \"X‑year‑old\" in each case description?",
"From the ages obtained, exclude any ages that belong to cases where the description mentions verruca vulgaris, growth retardation, or mental retardation."
] | [
"30 - year - old",
"22 - year - old",
"9 - year - old",
"21 - year - old"
] |
CaseReportBench:train-331 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case Report': 'A one-and-half year old boy presented with generalized scaling over whole body and redness over both cheeks. There was a history of consanguineous marriage and prolonged labor and baby was delivered by normal vaginal delivery. The birth weight of the baby was 2.3 kg and the length of the baby was 36 cm... | [
"What were the findings of the eye (ophthalmological) examination, including any reported abnormalities or the statement that no abnormality was found?"
] | [
"no abnormality in the eyes except mild ectropion. There was no evidence of seborrheic blepharitis",
"Ophthalmological examination was done and no abnormality found"
] |
CaseReportBench:train-226 | CaseReportBench | IEM-Treatment | {'Cases': 'The older patient was 20 years old. She was a product of a full-term spontaneous vaginal delivery at home. She was found to have severe virilized external genitalia: a phallic-like structure with hypospadias and incompletely fused labioscrotal folds. She was raised and named as a boy and no medical advice wa... | [
"What medication and dosage were initiated for the patients diagnosed with 11‑hydroxylase deficiency?"
] | [
"was started on hydrocortisone 10 mg twice a day",
"started on hydrocortisone 10 mg twice a day ."
] |
CaseReportBench:train-508 | CaseReportBench | Age-of-Onset | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | [
"At what age did the female patient first present with poor weight gain and signs of CGL?",
"At what age did the male patient first show reduction of subcutaneous adipose tissue and other CGL symptoms?"
] | [
"1 mo of age .",
"3 mo of age"
] |
CaseReportBench:train-181 | CaseReportBench | Patient-History | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | [
"What are the patient's demographic details and presenting complaints?"
] | [
"An 18 - year - old woman came in with swelling in her ankles and a cognitive decline"
] |
CaseReportBench:train-115 | CaseReportBench | Pregnancy | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | [
"What type of gastrointestinal symptoms, if any, did the patient report during her first pregnancy?",
"What was the overall outcome of the patient's first pregnancy?"
] | [
"abdominal pain, nausea, and vomiting during first pregnancy",
"patient delivered a healthy child"
] |
CaseReportBench:train-14 | CaseReportBench | Age-at-Presentation | {'CASE': 'A 56-year-old man, who had been a heavy drinker, presented symptoms of general weakness, abdominal discomfort, diarrhea and weight loss and was admitted to the hospital. On examination, he was found to be cachectic and his abdomen slightly distended with shifting dullness. Laboratory examination revealed a he... | [
"What was the patient's age at the time of presentation?"
] | [
"56 - year - old"
] |
CaseReportBench:train-490 | CaseReportBench | Vitals-and-Hematology | {'Case report': 'An 11-year-old male had presented to the hospital with a history of bilateral scrotal enlargement noticed in the past 3 months. History of palpitation, restlessness, anger, and dizziness on and off for the past 4-5 years. There was no history of fever or localized pain. On examination, the blood pressu... | [
"How was the patient's blood pressure described for each arm?",
"How were the patient's weight, height, and growth centile information reported?",
"How were the non‑blood‑pressure vital signs described in terms of stability or abnormality?"
] | [
"blood pressure was elevated measuring 150/100 mm Hg on the left and 144/100 mm Hg on the right arm, the rest of the vitals were stable. His body weight was 42.5 kg ( 75th-90th centile ) and his height measured 138 cm ( 50th centile )"
] |
CaseReportBench:train-514 | CaseReportBench | Confirmed-Diagnosis-IEM | {'Patient consent statement': 'Parents of patient have given consent to publish the case report.', 'Case report': 'A 14-year-old girl presented in Dermatology outpatient department, with a few skin lesions over face and anterior aspect of her neck for one month ( Fig. 1 ). The lesions measured approximately 2–5 mm in s... | [
"What diagnosis was concluded from the characteristic histopathology features observed in the skin biopsy?",
"Which specific disease was identified based on the histopathological findings described in the case report?",
"How did the histopathology results influence the final diagnostic decision for the patient?... | [
"Based on characteristic histopathology features , a diagnosis of PXE was offered"
] |
CaseReportBench:train-288 | CaseReportBench | Laboratory-and-Imaging | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | [
"What vascular anomalies were identified on preoperative contrast‑enhanced CT and intraoperative imaging?",
"What is the final surgical pathological diagnosis, including tumor type, differentiation, and stage, for the ascending colon cancer?",
"What were the results of serum tumor marker testing in this patient... | [
"Preoperative abdominal contrast - enhanced computed tomography ( CT ) and intraoperative photos confirmed that there were two ileocolic arteries derived from the superior mesenteric artery ( SMA ). On the other side, the SMA and superior mesenteric vein ( SMV ) were found to be accompanied like “ X”-shaped variant... |
CaseReportBench:train-368 | CaseReportBench | Dermatology | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | [
"Describe the cutaneous lesions, including their color, induration, distribution, symmetry, any spared areas, and associated hypertrichosis.",
"Explain how the skin lesions evolved over time, noting the initial presentation and subsequent changes.",
"Detail the hair findings, including any color changes, patter... | [
"hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hypertrichosis and then with indurated hyperpigmented patches gradually developing",
"premature graying of the hair",
"Large hyperpigment... |
CaseReportBench:train-23 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case report': "We present the case of a 65-year-old woman with a long-standing, biopsy-proven diagnosis of PXE. She had subtle yellowish skin papules coalescing into plaques on the lateral neck with skin laxity of the axilla ( Fig 1 ), face, neck, and groin. Noncutaneous history of PXE was significant for angioid str... | [
"What eye-related manifestations (e.g., retinal and vitreous findings) are documented for the patient?"
] | [
"angioid streaks, atrophic retinal break of the right eye,",
"vitreous degeneration, and bilateral posterior vitreous detachment"
] |
CaseReportBench:train-585 | CaseReportBench | Pregnancy | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | [
"What was the patient's birth weight and gestational age at delivery?",
"What was the mother's age at the time of the patient's birth?",
"How many pregnancies, stillbirths, and abortions had the mother experienced prior to this child's birth?"
] | [
"She was born 2300 g prematurely on her 37 th gestational week from a 34 - year - old mother with a history of five pregnancies, two still births and two abortions"
] |
CaseReportBench:train-435 | CaseReportBench | Patient-History | {'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2... | [
"Provide the patient’s demographic information (age, gender, country of origin) and summarize the initial neurological symptoms and any associated prodromal complaints such as headache, nausea, or dizziness.",
"List the patient’s pre‑existing medical conditions and any sensory impairments, noting the control stat... | [
"A 48 - year - old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word - finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness.",
"Her medical history was significant for essential hypertension, poorly controlled type 2 ... |
CaseReportBench:train-406 | CaseReportBench | IEM-Treatment | {'Case reports': 'Patient 1 (a woman, 68 years old) was diagnosed with PXE at 18 years of age. She was referred with a long history of lower limb claudication with an ankle-brachial pressure index (ABI) at rest of 0.69 on the right and 0.85 on the left. Duplex scan disclosed bilateral calcified short stenosis (>70%) of... | [
"What demographic information is provided for Patient 1 in the case description?"
] | [
", 68 years old"
] |
CaseReportBench:train-446 | CaseReportBench | Age-at-Presentation | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | [
"What age group does the patient belong to at the time of presentation?"
] | [
"18 - year - old"
] |
CaseReportBench:train-429 | CaseReportBench | Age-at-Presentation | {'Case Report': 'The patient was a 41-year-old man who had experienced generalized convulsions, insomnia, and depression since 20 years of age. He had been diagnosed with ischemic stroke at 33 years of age and epileptic seizure with epileptic encephalopathy at 37 years of age. He had no other systemic signs of mitochon... | [
"What is the patient's age group at the time of presentation?"
] | [
"41 - year - old"
] |
CaseReportBench:train-558 | CaseReportBench | Patient-History | {'Case Report': 'A 57-year-old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing he... | [
"What demographic details and characteristics of the patient's subcutaneous masses are reported, and how do these masses affect her breathing, sleep, and ability to sit or lie down?",
"What clinical manifestations of MERRF syndrome does the patient report, including any cardiac, peripheral nervous system, or musc... | [
"A 57 - year - old woman presented with a history of multiple painful subcutaneous masses especially around her neck but also bilaterally on her upper arms, back, abdomen, and upper legs. The patient was referred from the neurology department for management of these painful masses, which were obstructing her abilit... |
CaseReportBench:train-428 | CaseReportBench | Eyes-Ears-Nose-Throat | {'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and antero... | [
"What ocular motor abnormalities (e.g., double vision, ocular misalignment) are described, and what ages are given for their onset?",
"What details are provided about ptosis, including laterality and age of onset?",
"What details are provided about ophthalmoparesis, including laterality and age of onset?",
"I... | [
"divergence of the ocular bulbs with double vision since age 6y",
"bilateral ptosis since age 23y,",
"ophthalmoparesis since at least age 27y",
"ptosis, ophthalmoparesis,",
"ophthalmoparesis since age 6y, ptosis since age 23y,"
] |
CaseReportBench:train-484 | CaseReportBench | Endocrinology | {'Case Report': "A 23 year-old female patient, 160 cm tall and 48 kg, was diagnosed with acute appendicitis and admitted for a laparoscopic appendectomy. She had no abnormalities in her pediatric medical history, but from the age 18, she had slowly begun experiencing headaches in her left temporal lobe, nausea, and vom... | [
"What type of diabetes mellitus is documented for the patient?",
"What blood glucose measurements are reported in the case, and at which clinical time points were they recorded?"
] | [
"Type I DM.",
"hyperglycemia ( 257 mg / dl ),",
"her blood sugar was 176 mg / dl.",
"her blood sugar level was 120 mg / dl."
] |
CaseReportBench:train-176 | CaseReportBench | IEM-Treatment | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | [
"Which therapeutic procedure was performed for the infant diagnosed with neonatal hemochromatosis?",
"What immunoglobulin therapy was administered to the infant as part of the medical treatment?"
] | [
"Medical treatment was given with exchange transfusion and intravenous immunoglobulin ( IVIg )"
] |
CaseReportBench:train-510 | CaseReportBench | Dermatology | {'Case Presentation': "Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomitin... | [
"What abnormal physical examination findings were reported in the infant?",
"How was the infant's skin coloration described?"
] | [
"pallor and decreased subcutaneous fat and ill appearance with severe dehydration",
"skin were obviously jaundiced"
] |
CaseReportBench:train-398 | CaseReportBench | IEM-Treatment | {'Diagnoses:': 'The proband underwent a thorough examination in our hospital and was diagnosed as mitochondrial encephalomyopathy. The proband carried the pathogenic heteroplasmic mutation A3243G mutation in mitochondrial 12S rRNA gene. Although his parents did not carry the mutation.', 'Case presentation': "The proban... | [
"Which intravenous agent was administered to provide metabolic or amino‑acid support?",
"Which co‑enzyme supplement was prescribed to support mitochondrial energy production?"
] | [
"Intravenous arginine",
"coenzyme Q10"
] |
CaseReportBench:train-190 | CaseReportBench | Confirmed-Diagnosis-IEM | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | [
"Which clinical findings support the diagnosis of Papillon‑Lefèvre syndrome in this patient?"
] | [
"characteristic criteria for PLS"
] |
CaseReportBench:train-358 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | [
"What cytogenetic findings were reported for the patient in the initial karyotype analysis?",
"Which endocrine hormone measurements were reported for the patient, and were they within normal reference ranges?",
"What were the key findings of the transvaginal ultrasound regarding uterine and ovarian appearance?"... | [
"Her karyotype was reported as 45, X{20}/46, XX{80 },",
"17 - hydroxy progesterone ( 17 - OHP ) level was 1.3 ng / ml ( 0.2–1.4 ng / ml ), cortisol ( AM ) was 5–6 μg / dl ( 3.7–9.5 μg / dl ) dehydroepiandrosterone sulfate ( DHEAS ) was 189.6 μg / dl ( 65–380 μg / dl ) and serum total testosterone was 318 μg / dl ... |
CaseReportBench:train-292 | CaseReportBench | Age-at-Presentation | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | [
"What is the patient's age?"
] | [
"28 - year - old"
] |
CaseReportBench:train-93 | CaseReportBench | Patient-History | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | [
"What demographic information and presenting symptoms are described for the patient upon admission to the emergency department?"
] | [
"A 3 - year - old boy was admitted to our emergency department because of convulsions and unconsciousness"
] |
CaseReportBench:train-411 | CaseReportBench | Vitals-and-Hematology | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | [
"What are the patient's height, weight, and body mass index (BMI)?",
"What is the patient's Tanner stage?"
] | [
"height : 145 cm, weight : 46 Kg, body mass index ( BMI ): 21.8, Tanner staging : 1"
] |
CaseReportBench:train-240 | CaseReportBench | Laboratory-and-Imaging | {'Case report': "A 16-year-old Iraqi boy, born of first-cousin parents, presented to our outpatient clinic at Al-Sadr Teaching Hospital with hyperpigmented patches symmetrically overlying with hypertrichosis involving the inner aspects of his thighs. These lesions progressed slowly over 6 years, starting first as hyper... | [
"What laboratory abnormalities were reported, including erythrocyte sedimentation rate, serum cortisol, serum testosterone, complete blood count, and the results of thyroid, liver, renal, electrolyte, vitamin B12, iron studies, autoantibody panels, and lipid profile?",
"What were the findings of the cardiac evalu... | [
"elevated erythrocyte sedimentation rate of 93 ( normal range, 0–15 mm / h ), elevated serum cortisol of 1030 nmol / L ( normal range at morning, 171 - 536 nmol / L ), and decreased serum testosterone level of 2.63 ng / mL ( normal range, 2.8 - 8 ng / mL ). Complete blood count showed mild microcytic anemia. Thyroi... |
CaseReportBench:train-580 | CaseReportBench | Age-at-Presentation | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | [
"What age group does the patient fall into at presentation?"
] | [
"65 - year - old"
] |
CaseReportBench:train-353 | CaseReportBench | Laboratory-and-Imaging | {'Case Report': 'A 12-year-old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days. On physical examination the child was found to have retarded growth (dwarfism) and a pendulous abdomen. Per abdominal examination revealed hepatomegaly. USG study of the abdomen showed hepatomeg... | [
"What ultrasound and CT imaging findings were reported for the liver, including lesion size, location, characteristics, and any renal abnormalities?",
"Which laboratory results were abnormal, specifically regarding uric acid, cholesterol, random blood glucose level, and liver function tests?",
"What did the his... | [
"USG study of the abdomen showed hepatomegaly with diffusely raised echogenicity and a 7.5 × 4.5 cm – sized, well - defined, hypoechoic mass lesion in segment VI of the right lobe of the liver. CT scan of the abdomen showed hepatomegaly with diffuse low attenuation of the liver and a 7.5 × 4.5 × 4.8 cm well - circu... |
CaseReportBench:train-44 | CaseReportBench | Patient-History | {'Case Description': 'The patient was a 32-year-old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms. Physical examination revealed mild tenderness in the r... | [
"What symptoms did the patient report at presentation, including their duration and any symptoms that were explicitly denied?",
"What hospital, department, and admission date are reported for the patient’s initial presentation?",
"Summarize the mother’s cancer history as described, including cancer types, years... | [
"The patient was a 32 - year - old female who was referred to the department of gastrointestinal surgery of our hospital due to intermittent abdominal pain accompanied by changes in stool habits for 3 months. She had not experienced other symptoms.",
"she underwent laparoscopic radical right hemicolectomy for asc... |
CaseReportBench:train-15 | CaseReportBench | Genitourinary-System | {'Case presentation': 'We report a case of a 40-year-old man with CAH/21-hydroxylase deficiency, who willingly interrupted Prednisolone therapy for years. In 2007 his left adrenal gland was removed and diagnosed with adrenocortical carcinoma. In 2012 CT scan ( Fig. 1 ) showed a tumor in the right adrenal gland, confirm... | [
"Describe the macroscopic characteristics of the testicular masses, including any notable size ranges and appearance.",
"What did the frozen‑section analysis conclude about the nature of the testicular tumors?",
"What microscopic histopathological features were identified in the testicular tissue, including cel... | [
"bilateral testicular masses",
"semen analyses : azoospermia",
"frozen sections were interpreted as malignant tumors. Gross findings : right testicle 2.5/2.5/2.5 cm, left – 3.5/2/2 cm, with brown firm cut surface, lobulated and septated by yellow folds ( 0.1–1.5 cm ). The microscopic examination showed complete... |
CaseReportBench:train-425 | CaseReportBench | Cardiovascular-System | {'Case report': 'SH is a 44-year-old female diagnosed with mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) at age 32 after suffering a fall at her job that was thought to be secondary to a seizure. After her diagnosis was made, she was initially followed by Neurology; however she was subsequentl... | [
"What left ventricular structural changes were identified on echocardiography, including any progression and systolic function status?",
"What arrhythmic abnormalities were reported on the patient's electrocardiogram and Holter monitor?",
"What patterns of late gadolinium enhancement were observed on cardiac MR... | [
"progressive left ventricular hypertrophy ( LVH ) on echocardiogram",
"cardiac work - up included an EKG which showed sinus rhythm with frequent normally conducted premature atrial contractions and a Holter monitor that demonstrated episodes of non - sustained atrial tachycardia",
"an echocardiogram demonstrate... |
CaseReportBench:train-232 | CaseReportBench | Laboratory-and-Imaging | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | [
"What metabolic abnormalities were present, including anion gap status and serum lactate and pyruvate levels?",
"Which thyroid function tests were abnormal and what was the direction of the abnormality (elevated or decreased) for each?",
"What thyroid autoantibodies were detected and were their titers elevated?... | [
"high anion gap metabolic acidosis with elevated levels of lactate and pyruvate. Serum levels of thyroid - stimulating hormone ( TSH ) and free thyroxine ( FT4 ) were decreased. Her TSH level was low at 0.26 mU / L ( normal range 0.35–5.5 mU / L ), and FT4 concentration was 7.56 pmol / L ( normal range 10.2–31 ... |
CaseReportBench:train-118 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': 'A 5 year-old boy was referred to the Pediatric Dentistry Clinic with the complaint of "a small ball that appeared in the mouth". During the anamnesis, the patient was diagnosed as having hypophosphatemic vitamin D-resistant rickets. The child was the third twin; however, the parents as well as the sibl... | [
"What radiographic techniques were employed in the patient's examination?",
"What abnormalities were observed in the pulp chambers on the radiographs?",
"How were the pulp horns described in relation to the dentino‑enamel junction in the imaging findings?",
"What description was given for the lamina dura in t... | [
"Radiographic examinations included periapical, panoramic and occlusal views showing pulp chambers enlarged, with pulp horns extending to the dentino - enamel junction, poorly defined lamina dura and hypoplastic alveolar ridge"
] |
CaseReportBench:train-134 | CaseReportBench | Genitourinary-System | {'CASE PRESENTATION': "Following the complaints of other players over a 14 - year old girl with male phenotype in the under 16 age- group of women's national soccer team, further evaluation about her condition was performed by the team physician. In her general appearance, she had hirsutism, increased muscle bulk, dark... | [
"What phenotypic characteristics are described for the patient in relation to typical female development?",
"What information is provided regarding the patient's menstrual history and genital examination?",
"What details are reported about the patient's genital anatomy in early medical records?"
] | [
"girl with male phenotype",
", lack of menstrual period, clitoral enlargement,",
"ambiguous genitalia,"
] |
CaseReportBench:train-164 | CaseReportBench | Vitals-and-Hematology | {'Case Report': 'A 21-year-old nullipara presented with asymptomatic pigmented skin lesions over the sides of her neck and abdomen of 1 year duration. The onset was insidious, beginning over the sides of neck as a slight alteration in texture, and was not preceded by trauma or any general symptom such as fever. The pat... | [
"What vital sign measurements were documented for the patient?"
] | [
"blood pressure and other vital signs were normal"
] |
CaseReportBench:train-158 | CaseReportBench | Musculoskeletal-System | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | [
"Describe the characteristics of the bilateral Achilles tendon swellings, such as their growth rate, approximate size, consistency, tenderness, typical location, and which side was more symptomatic.",
"What impact did the Achilles tendon swellings have on the patient's walking distance and overall functional abil... | [
"bilateral slow growing and painful swellings of his achilles tendons",
"each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side",
"significan... |
CaseReportBench:train-18 | CaseReportBench | Musculoskeletal-System | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | [
"What was observed regarding the patient's Achilles tendon?"
] | [
"prominent Achilles tendon thickness"
] |
CaseReportBench:train-390 | CaseReportBench | Laboratory-and-Imaging | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | [
"What laboratory abnormalities were reported, including lipid profile, inflammatory markers, and cerebrospinal fluid protein levels?",
"What findings were observed on Doppler ultrasound of the urinary system (kidney, cyst, bladder)?",
"What brain MRI abnormalities characteristic of cerebrotendinous xanthomatosi... | [
"There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imagi... |
CaseReportBench:train-241 | CaseReportBench | Vitals-and-Hematology | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | [
"What is the patient's recorded height as documented in the physical examination?"
] | [
"short stature ( 145 cm"
] |
CaseReportBench:train-80 | CaseReportBench | IEM-Treatment | {'Declaration of patient consent': 'The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initi... | [
"What measures were recommended to reduce the patient's exposure to light?"
] | [
"The treatment involved complete avoidance of sunlight and use of dark goggles ."
] |
CaseReportBench:train-554 | CaseReportBench | Laboratory-and-Imaging | {'2. Case Presentation': 'A 19-year-old female was presented with palmoplantar hyperkeratosis from the age of 4 years and complete loss of teeth by the age of 14 which was the characteristic criteria for PLS. She was the second child born to apparently healthy consanguineous parents (cousins). Her older brother also su... | [
"What abnormalities were identified on the panoramic radiograph, specifically regarding the maxillary and mandibular bones and the maxillary sinuses?",
"What findings were reported from the physical examination of the chin and from other systemic examinations, routine laboratory tests, chest X‑ray, and skull X‑ra... | [
"In the panoramic view, severe maxillary and mandibular bone resorption along with bilateral pneumatization of maxillary sinuses were seen. Her chin was small but the other systemic examinations, routine laboratory examinations, chest X - ray, and skull X - ray were normal",
"Complete blood count and liver functi... |
CaseReportBench:train-462 | CaseReportBench | Respiratory-System | {'CASE REPORT': 'The patient is a 45y Caucasian male, height 182cm, weight 80kg, with a previous history of divergence of the ocular bulbs with double vision since age 6y, bilateral ptosis since age 23y, which was surgically corrected at age 30y, ophthalmoparesis since at least age 27y, a syncope at age 30y, and antero... | [
"Describe the respiratory pattern observed in the patient during the clinical evaluation.",
"What findings were reported regarding diaphragm mobility from imaging or functional studies?",
"Detail the features of the acute respiratory dysfunction at age 45, including gas exchange abnormalities and the underlying... | [
"abnormal respiratory pattern",
"Radioscopy of the lungs did not reveal abnormal mobility of the diaphragm",
"acute respiratory dysfunction in the absence of recent pulmonary infection or embolism with hypercapnia but normal oxygenation due to weakness of the respiratory muscles",
"hypercapnia due to muscular... |
CaseReportBench:train-501 | CaseReportBench | Gastrointestinal-System | {'Case report': "A 48-year-old woman of Palestine origin presented to a local hospital with subacute onset of confusion and word-finding difficulties. Her symptoms had started 2 weeks earlier with a headache, nausea, and dizziness. Her medical history was significant for essential hypertension, poorly controlled type 2... | [
"What gastrointestinal symptoms did the patient experience?"
] | [
"nausea,"
] |
CaseReportBench:train-189 | CaseReportBench | Patient-History | {'Case Report': 'A 52-year-old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication (Timolol 2/day) was referred to our service to assess the performance of a keratoplasty. As systemic symptoms, she showed intense dermatological lesions on the face and extre... | [
"What is the patient's age, gender, and ethnicity?",
"What systemic diagnoses have been recorded for the patient?",
"Which antiglaucoma medication is the patient using, and what is its dosing schedule?",
"For what clinical purpose was the patient referred to your service?"
] | [
"A 52 - year - old Caucasian woman diagnosed with CEP, epilepsy, hypertension, hyperuricemia, and glaucoma on antiglaucoma medication ( Timolol 2 / day ) was referred to our service to assess the performance of a keratoplasty"
] |
CaseReportBench:train-467 | CaseReportBench | Laboratory-and-Imaging | {'Case Report': "The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes... | [
"What atrophic changes were described on brain and orbital MRI, including the optic nerve, cerebellum, and brain stem?",
"What signal abnormalities on MRI indicated degeneration of the bilateral inferior olivary nuclei?",
"What types of mitochondrial DNA alterations were reported for the patient and his mother,... | [
"Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus",
"Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.",
"Blood and cerebrospinal fluid analyses... |
CaseReportBench:train-504 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': 'A 20-year-old unmarried, young girl from the remote village of South Bengal, who had slightly poor physical but normal mental development, presented with occasional high rise of temperature, frequent dental caries, and fall-out of teeth from time to time since the age of 3–4 years along with persistent... | [
"What were the findings of the routine hematological and biochemical examinations, including any abnormalities such as anemia?",
"What serological investigations were performed and what were their overall results?",
"What were the radiographic findings on the chest X‑ray (posterior‑anterior view) and the orthop... | [
"Routine hematological examinations and routine biochemical examinations revealed normal results, except for anemia",
"Serological tests like anti - nuclear antibody, anti - cytoplasmic neutrophilic antibody, HIV - I and II, and VDRL were negative",
"Chest X - ray posterior - anterior view was within normal lim... |
CaseReportBench:train-41 | CaseReportBench | Patient-History | {'Case Report': 'A 38-year-old female presented to the out-patient department with a 6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week. The patient gave no history of breathlessness, chest pa... | [
"Describe the chronicity and distribution of the patient's skin changes.",
"What visual or neurological complaints has the patient mentioned, and what is their time course?"
] | [
"6 year history of increased laxity of the skin over the neck, thighs, and abdomen. The patient gave a history of blurring of vision, photophobia, and headache for the past 1 week"
] |
CaseReportBench:train-59 | CaseReportBench | Cardiovascular-System | {'Case Description': 'Polyhydramnios in the second and third trimester of pregnancy is defined by (semiquantative) measurements such as a maximum vertical pocket (MVP) >8 cm, or an amniotic fluid index (AFI) >24 cm. Approximately 90% of cases are idiopathic or caused by gestational diabetes (GDM) 1 . However, 10% of ca... | [
"What ventricular septal defect history was reported for the mother and how was it described?",
"What cardiac abnormalities were identified prenatally and confirmed postnatally in the fetus, including myocardial appearance and VSD characteristics?",
"What signs of circulatory instability, such as blood pressure... | [
"spontaneously closed ventricular septal defect ( VSD ) in her own infancy,",
"The myocardium was hypertrophic with a small perimembraneous VSD",
"Postnatal cardiac ultrasound confirmed the presence of a small VSD",
"hypotension",
"The VSD in our patient is considered to be a separate finding ( familial tra... |
CaseReportBench:train-582 | CaseReportBench | Cardiovascular-System | {'Case presentation': "An 11-month-old baby girl presented to the outpatient clinic at Peking Union Medical College Hospital with skin hyperpigmentation and vomiting for 2 weeks. The child was born at full-term by Cesarean section and was the second child of the nonconsanguineous parents. The patient's older sibling wa... | [
"What were the patient's blood pressure measurements and did they indicate hypertension?"
] | [
"Lacking hypertension"
] |
CaseReportBench:train-351 | CaseReportBench | Age-at-Presentation | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | [
"At what age was the child first admitted to the hospital for respiratory syncytial virus and seizure-like activity?",
"How old was the patient when the MRI that revealed limited myelination was performed?",
"What was the age of the patient at the time of presentation with seizures and other neurological sympto... | [
"age of 3 months"
] |
CaseReportBench:train-26 | CaseReportBench | Age-of-Onset | {'Case report': 'A 2-year-old boy was referred to our hospital due to developmental delay, ichthyosis, asthma, and recurrent pneumonia. His parents were related but there was no history of asthma, and allergic disorders in his family, and close relatives. He had ichthyosis at birth, and mild intermittent asthma, and 2 ... | [
"At what age did the patient first develop ichthyosis?"
] | [
"at birth"
] |
CaseReportBench:train-400 | CaseReportBench | Laboratory-and-Imaging | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | [
"What overall pattern was observed in the hexosaminidase assay performed on white blood cells, and how did the results compare to normal reference ranges?",
"What did the brain magnetic resonance imaging performed at 15 months reveal about myelination and any abnormal enhancement?",
"What types of test material... | [
"Brain magnetic resonance imaging scans obtained at 15 months of age did not show delayed myelination or abnormal enhancement",
"The patient underwent hexosaminidase assay in white blood cells, which showed increased hexosaminidase A ( % ) and decreased total hexosaminidase. The total hexosaminidase A & B and hex... |
CaseReportBench:train-472 | CaseReportBench | Vitals-and-Hematology | {'Case report': 'A 37-year-old woman presented to the surgical unit of a general teaching hospital with abdominal pain that she experienced while walking to the hospital (May 2019). Her symptoms had started 4 months previously (January 2019). The initial symptoms included recurring abdominal pain and bloating (almost o... | [
"What were the patient’s vital sign measurements (e.g., oxygen saturation, heart rate, blood pressure) at the time she suddenly developed dyspnea, muscle weakness, and altered consciousness?"
] | [
"SPO 2 86 %",
"130 bpm",
"blood pressure 80/59 mmHg"
] |
CaseReportBench:train-494 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Patient 2': 'The elder sister of patient 1 was an 84-year-old woman with a stooping posture presenting with tremors since the age of 60. In her 70s she started walking with the aid of a walking stick. At 82 years of age, she was hospitalized for generalized seizures and disturbed consciousness. CT of T10 revealed sev... | [
"Describe the status of the patient's eye movements.",
"What cataract-related findings are reported for the patient?",
"What hearing impairments are reported for the patient?",
"Summarize the pure‑tone audiometry results for the patient."
] | [
"bilateral cataracts, and hearing loss",
"eye movements were normal",
"Pure - tone audiometry indicated sensorineural and high - frequency hearing loss."
] |
CaseReportBench:train-85 | CaseReportBench | Vitals-and-Hematology | {'Case Report': "A 23 year-old female patient, 160 cm tall and 48 kg, was diagnosed with acute appendicitis and admitted for a laparoscopic appendectomy. She had no abnormalities in her pediatric medical history, but from the age 18, she had slowly begun experiencing headaches in her left temporal lobe, nausea, and vom... | [
"What were the patient's blood pressure, heart rate, and oxygen saturation before induction of anesthesia?",
"What were the patient's blood pressure, heart rate, oxygen saturation, and body temperature during the operation?"
] | [
"blood pressure 115/65 mmHg, heart rate 100 beats / min, oxygen saturation rate 97 %",
"blood pressure at 120 - 140/60 - 80 mmHg, heart rate 80 - 100 beats / min, oxygen saturation 100 %, body temperature 37.0 - 37.4 ℃"
] |
CaseReportBench:train-543 | CaseReportBench | Patient-History | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | [
"Can you describe the patient's demographic information and summarize the presentation of the testicular swelling, including side, progression, and duration?"
] | [
"A 20 - year - old male presented with a gradually increasing swelling of the left testis for 1 year duration"
] |
CaseReportBench:train-236 | CaseReportBench | Cardiovascular-System | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | [
"What was the infant's heart rate on initial examination?",
"Describe the infant's eye appearance, oral mucosa, and anterior fontanelle status at presentation.",
"What were the preductal and postductal oxygen saturation percentages on arrival?",
"What cardiac murmur was auscultated, including its grade and lo... | [
"bradycardic",
"sunken eyes, normal oral mucosa and a slightly depressed anterior fontanelle",
"His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air",
"he had a 2/6 systolic murmur best heard in the pulmonary area",
"His ECG showed broad complex bradycardia",
"r... |
CaseReportBench:train-389 | CaseReportBench | Laboratory-and-Imaging | {'CASE PRESENTATION': 'A 20-year-old male presented with a gradually increasing swelling of the left testis for 1 year duration. He was otherwise asymptomatic. He was diagnosed to have CAH at the age of 1 year but had defaulted treatment at the age of 4 years. The patient had a strong reluctance to seek medical care du... | [
"What abnormalities were reported on scrotal ultrasonography, including testicular size and the presence of varicoceles?",
"What did the seminal fluid analysis reveal regarding sperm presence?",
"What histopathological features were observed in the right epididymal biopsy, including cellular morphology and stro... | [
"Ultrasonography showed bilateral enlargement of the testes and epididymes ( right testis measuring 41 ml in volume ( 6.6 cm × 3.7 cm × 2.3 cm ), left testis measuring 52.1 ml in volume ( 6.2 cm × 4.5 cm × 3.6 cm ) ). In addition, there were bilateral grade - II varicocele. Seminal fluid analysis showed azoospermia... |
CaseReportBench:train-95 | CaseReportBench | Laboratory-and-Imaging | {'Case History': 'A 32-year-old, mentally retarded female presented with gait instability and right malar eminence swelling as well as swelling along the posterior aspect of both ankle joints. Patient had undergone surgery for cataracts in both eyes 10 years back. On examination patient was found to have ataxia, soft, ... | [
"What were the results of the patient's lipid profile and other blood chemistry tests?",
"What abnormalities were identified on the radiograph of the ankle joints?",
"What did the MRI of the ankle joints reveal regarding the Achilles tendons?",
"What signal abnormalities were observed on brain MRI (T2W, FLAIR... | [
"Lipid profile revealed total cholesterol of 306 mg / dl ( LDL 205 mg / dl, VLDL 46mg / dl, HDL 55 mg / dl ) and triglycerides of 526 mg / dl. Rest of the blood chemistry was normal. Radiograph of ankle joints revealed soft tissue swellings along the posterior aspect of both ankle joints and calcaneal bones. MRI of... |
CaseReportBench:train-500 | CaseReportBench | Neurology | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | [
"What neuro‑visceral and psychiatric manifestations did the patient exhibit during the acute porphyria attack?",
"Describe the sudden deterioration in consciousness observed during the acute attack, including any changes in level of alertness and pupil response.",
"Which brain imaging studies (CT, MRI) and cere... | [
"neuro - visceral and psychiatric manifestations",
"sudden deterioration of consciousness level and became unresponsive with a Glasgow Coma Scale of 7/15. Her pupils were dilated and had a sluggish reaction to light",
"brain CT scan and magnetic resonance imaging ( MRI ), and cerebrospinal fluid analysis. These... |
CaseReportBench:train-289 | CaseReportBench | Vitals-and-Hematology | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | [
"Were any abnormalities noted in the white blood cell count or differential on laboratory testing?",
"What was the patient's recorded body temperature, and was it considered elevated?"
] | [
"Increased leukocyte count, neutrophil ratio",
"T ≤ 38.2 ° C )"
] |
CaseReportBench:train-261 | CaseReportBench | Vitals-and-Hematology | {'Case presentation': 'A 10-day-old male infant presented to the emergency department with a 3-day history of poor feeding and lethargy. No fever or irritability was noted. He was born at 40 weeks’ gestation by emergency caesarean section with no complications. He had an Apgar scores of 7, 9 and 9 at 1 min, 5 min and 1... | [
"What were the infant's initial respiratory rate and the preductal and postductal oxygen saturation percentages while breathing room air?"
] | [
"His respiratory rate was 50 breaths/ min and was saturating at 99 % in air. His preductal oxygen saturation was 98 % in air and postductal oxygen saturation was 97 % in air"
] |
CaseReportBench:train-571 | CaseReportBench | Eyes-Ears-Nose-Throat | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | [
"What were the findings of the complete ophthalmological examination performed to rule out ocular disease?",
"What home behaviors prompted owners to suspect visual impairment, and was this impairment confirmed on clinical examination?",
"Did the examinations reveal any ocular structural abnormalities, and if so... | [
"No ophthalmological abnormalities were detected",
"based on the behaviours at home described by the owners ( the inability to find some toys, and the behaviour of ‘ scratching and biting the air ’ ), some degree of visual impairment was suspected but not confirmed",
"visible suture line in the posterior capsul... |
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