serial-number stringlengths 6 9 | pmcid stringclasses 138
values | text stringclasses 138
values | context stringclasses 138
values | role stringclasses 18
values | role-name stringclasses 18
values | raw-initial-ground-truth listlengths 0 18 |
|---|---|---|---|---|---|---|
test-601 | 3635963 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-602 | 3635963 | {'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... | {'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... | Genitourinary-System | GU | [
"pink - stained urine as a newborn",
"history of pink - stained diapers"
] |
test-603 | 3635963 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-604 | 3635963 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-605 | 3635963 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [] |
test-606 | 3635963 | {'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... | {'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... | Dermatology | DERM | [
"episodes of burning sensation, erythema and edema on her face, neck, arms and lower legs within minutes following exposure to direct sunlight in her infancy. Vesicles or subepidermal bullous lesions progressed to crusted erosions, which healed with scarring and either hyperpigmentation or hypopigmentation ( fig. 1... |
test-607 | 3635963 | {'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... | {'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... | Pregnancy | Pregnancy | [] |
test-608 | 3635963 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-609 | 3635963 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"5 - year - old"
] |
test-610 | 3635963 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [
"Disease onset occurred in the tenth month of life"
] |
test-611 | 3635963 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CEP"
] |
test-612 | 3635963 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [
"strict avoidance of UV and visible light , use of topical sunscreen ,"
] |
test-613 | 3683185 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"anemia"
] |
test-614 | 3683185 | {'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... | {'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... | Gastrointestinal-System | GI | [] |
test-615 | 3683185 | {'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... | {'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... | Patient-History | History | [
"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 thick... |
test-616 | 3683185 | {'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... | {'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... | Neurology | Neuro | [
"normal mental development,"
] |
test-617 | 3683185 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
test-618 | 3683185 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-619 | 3683185 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-620 | 3683185 | {'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... | {'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... | Genitourinary-System | GU | [] |
test-621 | 3683185 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-622 | 3683185 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-623 | 3683185 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"frequent dental caries,",
"fall - out of teeth from time to time",
"poor formation of saliva ( xerostomia ), poor formation of tear ( xerophthalmia ), recurrent conjunctivitis,",
"frequent pharyngitis, otitis, rhinitis,",
"her deciduous teeth had erupted normally, but exfoliated gradually by the age of 4–6... |
test-624 | 3683185 | {'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... | {'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... | Dermatology | DERM | [
"persistent thickening, flaking, and scaling of the skin of her palms and soles",
"alopecia",
"pyogenic skin lesions",
"presence of rough skin on the plantar surface of her feet, with subsequent involvement of the palmar surface of the hands",
"there were symmetrical, well - demarcated, keratotic, and confl... |
test-625 | 3683185 | {'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... | {'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... | Pregnancy | Pregnancy | [] |
test-626 | 3683185 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-627 | 3683185 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"20 - year - old"
] |
test-628 | 3683185 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [
"since the age of 3–4 years"
] |
test-629 | 3683185 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"chronic arsenicosis"
] |
test-630 | 3683185 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [
"standard dose of penicillamine as a chelating agent"
] |
test-631 | 3354359 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
test-632 | 3354359 | {'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... | {'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... | Gastrointestinal-System | GI | [
"upper abdominal discomfort for 15–20 days",
"pendulous abdomen.",
"hepatomegaly",
"protuberant abdomen"
] |
test-633 | 3354359 | {'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... | {'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... | Patient-History | History | [
"A 12 - year - old boy was brought to the hospital by his parents with upper abdominal discomfort for 15–20 days"
] |
test-634 | 3354359 | {'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... | {'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... | Neurology | Neuro | [] |
test-635 | 3354359 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"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... |
test-636 | 3354359 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-637 | 3354359 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-638 | 3354359 | {'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... | {'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... | Genitourinary-System | GU | [
"Multiple small bilateral renal calculi were also noted.",
"bilateral renal calculi"
] |
test-639 | 3354359 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-640 | 3354359 | {'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... | {'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... | Musculoskeletal-System | MSK | [
"retarded growth ( dwarfism )",
"clinical features of dwarfism"
] |
test-641 | 3354359 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [] |
test-642 | 3354359 | {'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... | {'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... | Dermatology | DERM | [
"facial dysmorphism"
] |
test-643 | 3354359 | {'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... | {'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... | Pregnancy | Pregnancy | [] |
test-644 | 3354359 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-645 | 3354359 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"12 - year - old"
] |
test-646 | 3354359 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [] |
test-647 | 3354359 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
test-648 | 3354359 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
test-649 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Vitals-and-Hematology | Vitals_Hema | [] |
test-650 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Gastrointestinal-System | GI | [] |
test-651 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Patient-History | History | [
"An 18 - month - old boy born after an uncomplicated full - term pregnancy was hospitalized for psychomotor regression and drug - resistant myoclonic epilepsy.",
"There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The ot... |
test-652 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Neurology | Neuro | [
"psychomotor regression and drug - resistant myoclonic epilepsy.",
"myoclonus of the face and upper limbs,",
"psychomotor developmental delay.",
"macrocephaly of 51 cm",
"axial hypotonia with no further optical problems or responsiveness to light",
"Cerebral computed tomography ( CT ) scanning performed w... |
test-653 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Laboratory-and-Imaging | Lab_Image | [
"Cerebral computed tomography ( CT ) scanning performed without contrast medium injection showed a bilateral thalamic hyperdensity with hypodensity of the white matter ( Fig. 1 ). With magnetic resonance imaging ( MRI ) the thalamus was hyperintense on T1 - weighted images and hypointense on T2 - weighted images ( ... |
test-654 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Cardiovascular-System | CVS | [] |
test-655 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Endocrinology | ENDO | [] |
test-656 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Genitourinary-System | GU | [] |
test-657 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Respiratory-System | RESP | [] |
test-658 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Musculoskeletal-System | MSK | [] |
test-659 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Eyes-Ears-Nose-Throat | EENT | [
"no further optical problems or responsiveness to light.",
"cherry - red spot without optic atrophy"
] |
test-660 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Dermatology | DERM | [
"dysmorphic syndrome consisting of a frontal bossing and a broadening of the nasal bridge"
] |
test-661 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Pregnancy | Pregnancy | [
"born after an uncomplicated full - term pregnancy"
] |
test-662 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Lymphatic-System | LYMPH | [] |
test-663 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Age-at-Presentation | Age (at case presentation) | [
"18 - month - old"
] |
test-664 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Age-of-Onset | Age (of onset) | [
"The onset of clinical symptoms began at the age of 6 months"
] |
test-665 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Sandhoff disease"
] |
test-666 | 3145082 | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | {'Observation': 'An 18-month-old boy born after an uncomplicated full-term pregnancy was hospitalized for psychomotor regression and drug-resistant myoclonic epilepsy. There was a consanguinity of the first degree of the parents and the death of a brother at the age of 16 months under unspecified circumstances. The oth... | IEM-Treatment | IEM_Treatment | [] |
test-667 | 3371526 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"blood pressure and other vital signs were normal"
] |
test-668 | 3371526 | {'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... | {'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... | Gastrointestinal-System | GI | [] |
test-669 | 3371526 | {'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... | {'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... | Patient-History | History | [
"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 patient... |
test-670 | 3371526 | {'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... | {'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... | Neurology | Neuro | [] |
test-671 | 3371526 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"The routine hemogram and biochemical parameters, including renal function tests and serum calcium, were within normal limits; chest X - ray and EKG were also normal",
"The feces was negative for occult blood",
"Histology of the biopsy specimen showed fragmented, irregularly clumped, basophilic material through... |
test-672 | 3371526 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-673 | 3371526 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-674 | 3371526 | {'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... | {'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... | Genitourinary-System | GU | [] |
test-675 | 3371526 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-676 | 3371526 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-677 | 3371526 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"mucosa over the hard palate showed small, firm, yellowish - white plaques",
"Ocular examination did not reveal any abnormality"
] |
test-678 | 3371526 | {'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... | {'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... | Dermatology | DERM | [
"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,",
"multiple brownish - black papules symmetrically distributed over the front and sides of the neck and periumbilical area. The skin over ... |
test-679 | 3371526 | {'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... | {'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... | Pregnancy | Pregnancy | [
"nullipara",
"no history of abortion"
] |
test-680 | 3371526 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-681 | 3371526 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"21 - year - old"
] |
test-682 | 3371526 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [] |
test-683 | 3371526 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"PXE"
] |
test-684 | 3371526 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
test-685 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Vitals-and-Hematology | Vitals_Hema | [
"vital signs were a blood pressure of 115/92 mmHg, a regular pulse of 105 / min, and a respiratory rate of 18 / min. His height was 152.5 cm ( < 3th percentile ) and body weight was 72.5 kg. The body mass index was 32.5."
] |
test-686 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Gastrointestinal-System | GI | [
"dark urine, and jaundice"
] |
test-687 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Patient-History | History | [
"A 41 - yr - old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history included community -... |
test-688 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Neurology | Neuro | [
"generalized weakness,",
"carpal tunnel syndrome,"
] |
test-689 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Laboratory-and-Imaging | Lab_Image | [
"Total and direct bilirubin levels were elevated at 11.6 mg / dL and 8.6 mg / dL, respectively. The AST and ALT levels were 224 and 1,044 U / L, respectively. Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal. Based on a positive anti - HAV IgM titer, he wa... |
test-690 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Cardiovascular-System | CVS | [
"nor hypertension"
] |
test-691 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Endocrinology | ENDO | [
"neither diabetes mellitus",
"precocious puberty",
"Acanthosis nigricans was present in both axillae,",
"central obesity",
"rather ambiguous buffalo hump; however, moon face or red stria was not present",
"4 × 2.3 cm left adrenal mass and bilateral adrenal hyperplasia were incidentally noted on abdominal ... |
test-692 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Genitourinary-System | GU | [
"dark urine",
"impotence,",
"Serum BUN level was 9.7 mg / dL, and serum creatinine level was 0.82 mg / dL. Serum electrolytes were normal.",
"impotence was improved"
] |
test-693 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Respiratory-System | RESP | [
"community - acquired pneumonia"
] |
test-694 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Musculoskeletal-System | MSK | [] |
test-695 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Eyes-Ears-Nose-Throat | EENT | [] |
test-696 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Dermatology | DERM | [
"hirsutism",
"Acanthosis nigricans was present in both axillae",
"erythematous, scaly, guttate papules on the lower abdominal skin",
"rather ambiguous buffalo hump; however, moon face or red stria was not present"
] |
test-697 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Pregnancy | Pregnancy | [] |
test-698 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Lymphatic-System | LYMPH | [] |
test-699 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Age-at-Presentation | Age (at case presentation) | [
"41 - yr - old"
] |
test-700 | 3492685 | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | {'CASE DESCRIPTION': "A 41-yr-old man was referred to our emergency room from a local clinic on July 3, 2006, with the impression of acute viral hepatitis due to a remarkable elevation of liver enzymes. He had experienced generalized weakness, dark urine, and jaundice for a two week period. His previous history include... | Age-of-Onset | Age (of onset) | [
"age of 7"
] |
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