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-501 | 2719213 | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | Age-at-Presentation | Age (at case presentation) | [
"5 months",
"3 months old ."
] |
test-502 | 2719213 | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | Age-of-Onset | Age (of onset) | [
"at birth"
] |
test-503 | 2719213 | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"with"
] |
test-504 | 2719213 | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | {'CASE REPORT': 'Patient 1 (UPN 1) is a male who was diagnosed with WAS at the age of 5 months. He presented with incidentally detected thrombocytopenia (23,000/µL) with skin eczema and severe, recurrent otitis media and diarrhea on admission. The second male patient (UPN 2) presented with neonatal thrombocytopenia at ... | IEM-Treatment | IEM_Treatment | [] |
test-505 | 2927793 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [] |
test-506 | 2927793 | {'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... | {'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... | Gastrointestinal-System | GI | [] |
test-507 | 2927793 | {'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... | {'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... | Patient-History | History | [
"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",
"XY2 was reported by both his parents due to a suspicion of developmental problems. The parents noticed a major head start over his peers at scho... |
test-508 | 2927793 | {'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... | {'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... | Neurology | Neuro | [
"suspicion of developmental problems. The parents noticed a major head start over his peers at school level. On a social level, however, there appears to be a lag.",
"intellectually gifted ( WISC - III Full Scale IQ : 135, Verbal IQ : 136, Performance IQ : 133 )",
"DSM - IV - diagnosis of AD, confirmed by the A... |
test-509 | 2927793 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"molecular analysis of the PHEX gene and sequence analysis showed a hemizygote 1735 G > A(G579R ) missense mutation in exon 17 of the PHEX gene in all subjects"
] |
test-510 | 2927793 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-511 | 2927793 | {'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... | {'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... | Endocrinology | ENDO | [
"lack of growth."
] |
test-512 | 2927793 | {'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... | {'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... | Genitourinary-System | GU | [] |
test-513 | 2927793 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-514 | 2927793 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-515 | 2927793 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [] |
test-516 | 2927793 | {'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... | {'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... | Dermatology | DERM | [] |
test-517 | 2927793 | {'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... | {'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... | Pregnancy | Pregnancy | [] |
test-518 | 2927793 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-519 | 2927793 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"seven years of age"
] |
test-520 | 2927793 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [] |
test-521 | 2927793 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"X - linked hypophosphatemia"
] |
test-522 | 2927793 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [] |
test-523 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Vitals-and-Hematology | Vitals_Hema | [
"the baby weighed 8.5 kg with head circumference 44 cm and length 81 cm",
"Arterial oxygen saturation ( SpO 2 ) was 94 %.",
"The heart rate was 146 / min. The respiratory rate was 26 / min. Non - invasive blood pressure was 73/44 ( 54 ) mm Hg."
] |
test-524 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Gastrointestinal-System | GI | [
"no history of fever, rash, abdominal pain, constipation",
"Abdomen was soft. The liver was palpable 1 cm below the costal margin. The spleen was not felt. There were no other masses felt",
"and liver function were within the reference range."
] |
test-525 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Patient-History | History | [
"Our case was a 1 - year 5 - month - old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath - holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus membra... |
test-526 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Neurology | Neuro | [
"no history of fever, rash, abdominal pain, constipation or alteration of sensorium.",
"conscious and alert",
"Reflexes were normal, and he had hypotonia. There was no neck stiffness. The spine and gait were normal.",
"No abnormalities were detected on the electroencephalogram"
] |
test-527 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Laboratory-and-Imaging | Lab_Image | [
"The urine routine examination and ultrasound abdomen were normal. The hemoglobin levels were low with microcytic hypochromic anemia. Hemoglobin was 10.2 g / dl ( normal 10.5 - 14 g / dl ), packed cell volume, mean corpuscular volume ( MCV ) and mean corpuscular hemoglobin were low at 31.9 % ( normal 32 - 42 % ), 6... |
test-528 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Cardiovascular-System | CVS | [
"Examination of the cardiovascular system showed normal heart sounds. There were no added heart sounds, murmurs or rubs.",
"cardiovascular systems were normal."
] |
test-529 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Endocrinology | ENDO | [] |
test-530 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Genitourinary-System | GU | [
"reddish discoloration of the nappies and clothes",
"no abnormal odor of the skin or urine.",
"no history of crying while passing urine, poor urinary stream",
"Urine was of normal color when voided but turned black over variable periods spontaneously"
] |
test-531 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Respiratory-System | RESP | [
"breath - holding spells.",
"normal chest movements with equal air entry on both sides"
] |
test-532 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Musculoskeletal-System | MSK | [
"musculoskeletal system, skin, and cardiovascular systems were normal"
] |
test-533 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Eyes-Ears-Nose-Throat | EENT | [] |
test-534 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Dermatology | DERM | [
"no abnormal odor of the skin",
"no history of fever, rash,",
"no jaundice or dehydration or abnormal odor",
"skin, and cardiovascular systems were normal."
] |
test-535 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Pregnancy | Pregnancy | [] |
test-536 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Lymphatic-System | LYMPH | [] |
test-537 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Age-at-Presentation | Age (at case presentation) | [
"1 - year 5 - month - old"
] |
test-538 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Age-of-Onset | Age (of onset) | [] |
test-539 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"alkaptonuric"
] |
test-540 | 3758736 | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | {'Case Report': 'Our case was a 1-year 5-month-old male child, brought with complaints of reddish discoloration of the nappies and clothes and breath-holding spells. There was no abnormal odor of the skin or urine. There was no history of crying while passing urine, poor urinary stream or bleeding from skin or mucus me... | IEM-Treatment | IEM_Treatment | [
"low phenylalanine and tyrosine diet ,"
] |
test-541 | 3764967 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"thrombocytopenia ( platelets 10.3 × 10 4 / μl )"
] |
test-542 | 3764967 | {'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... | {'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... | Gastrointestinal-System | GI | [
"sudden rectal hemorrhage",
"no previous significant rectal bleeding.",
"abdomen was soft and flat; a non - tender liver edge descended to 8.5 cm below the right costal margin, and the splenic tip was palpable 11.5 cm below the left costal margin",
"extremely enlarged liver and spleen."
] |
test-543 | 3764967 | {'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... | {'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... | Patient-History | History | [
"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"
] |
test-544 | 3764967 | {'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... | {'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... | Neurology | Neuro | [
"Neurologic examination revealed no evidence of abnormalities"
] |
test-545 | 3764967 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"thrombocytopenia and slight leukocytopenia ( platelets 6.7 × 10 4 /μl, white blood cells 3,180 / μl ). Other laboratory findings disclosed : total bilirubin 1.4 mg / dl ( reference range 0.2–1.3 ), direct bilirubin 0.5 mg / dl ( reference range 0–0.3 ), and prothrombin time activity 77.0 % ( reference range... |
test-546 | 3764967 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-547 | 3764967 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-548 | 3764967 | {'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... | {'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... | Genitourinary-System | GU | [] |
test-549 | 3764967 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-550 | 3764967 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-551 | 3764967 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [] |
test-552 | 3764967 | {'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... | {'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... | Dermatology | DERM | [] |
test-553 | 3764967 | {'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... | {'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... | Pregnancy | Pregnancy | [] |
test-554 | 3764967 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-555 | 3764967 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"21 - year - old"
] |
test-556 | 3764967 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [] |
test-557 | 3764967 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Gaucher disease type 1"
] |
test-558 | 3764967 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [
"enzyme replacement therapy ( ERT ) . 60 U / kg body weight imiglucerase , a macrophage - targeted recombinant human glucocerebrosidase , was injected every 2 weeks"
] |
test-559 | 3446141 | {'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... | {'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... | Vitals-and-Hematology | Vitals_Hema | [
"length measured 50 cm ( < 5 th percentile ), weight 3000 g ( < 5 th percentile ), and head circumference 36.5 cm ( 5–10 th percentile ). She had a weak pulse, with a heart rate of about 130 beats per minute. Blood pressure was 50/40 mmHg at admission"
] |
test-560 | 3446141 | {'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... | {'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... | Gastrointestinal-System | GI | [
"cholestasis and severe intractable vomiting",
"jaundice and vomiting",
"recurrent vomiting, poor feeding and cholestasis",
"with recurrent vomiting and poor intake which led to poor weight gain.",
"Intermittent clay colored stool was reported by parents, with changing to completely acholic type a few days ... |
test-561 | 3446141 | {'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... | {'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... | Patient-History | History | [
"45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances",
"A 45 days old infant with female appearing genitalia was admitted because of recurrent vomiting, poor feeding and cholestasis.",
"Problems started from third day of life with recurrent ... |
test-562 | 3446141 | {'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... | {'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... | Neurology | Neuro | [] |
test-563 | 3446141 | {'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... | {'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... | Laboratory-and-Imaging | Lab_Image | [
"Sepsis workups including blood culture and urine culture were performed, which later results showed both negative",
"tyrosine level, laboratory assessment for metabolic disorders including serum and urine amino acid chromatography, urinary organic acid profile and NH3 and lactate levels were evaluated with all i... |
test-564 | 3446141 | {'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... | {'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... | Cardiovascular-System | CVS | [] |
test-565 | 3446141 | {'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... | {'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... | Endocrinology | ENDO | [] |
test-566 | 3446141 | {'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... | {'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... | Genitourinary-System | GU | [
"electrolyte disturbances",
"Hyponatremia and hyperkalemia",
"with female appearing genitalia",
"External genitalia seemed normal female type",
"serum sodium 102 meq / lit and serum k + level 9 meq / lit.",
"Pelvic sonography revealed the testicles in the inguinal canal, moreover, a uterus was not detecte... |
test-567 | 3446141 | {'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... | {'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... | Respiratory-System | RESP | [] |
test-568 | 3446141 | {'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... | {'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... | Musculoskeletal-System | MSK | [] |
test-569 | 3446141 | {'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... | {'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... | Eyes-Ears-Nose-Throat | EENT | [
"sclerae and skin were obviously jaundiced",
"Ophthalmic fundoscopy in view of corioretinitis, cataract was not conclusive"
] |
test-570 | 3446141 | {'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... | {'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... | Dermatology | DERM | [
"pallor and decreased subcutaneous fat and ill appearance with severe dehydration",
"skin were obviously jaundiced"
] |
test-571 | 3446141 | {'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... | {'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... | Pregnancy | Pregnancy | [
"It was a product of consanguineous parents with birth weight of 3300 grams"
] |
test-572 | 3446141 | {'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... | {'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... | Lymphatic-System | LYMPH | [] |
test-573 | 3446141 | {'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... | {'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... | Age-at-Presentation | Age (at case presentation) | [
"45 days old"
] |
test-574 | 3446141 | {'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... | {'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... | Age-of-Onset | Age (of onset) | [
"third day of life"
] |
test-575 | 3446141 | {'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... | {'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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"congenital adrenal hyperplasia ."
] |
test-576 | 3446141 | {'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... | {'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... | IEM-Treatment | IEM_Treatment | [
"Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting",
"Fludrocortisones and hydrocortisone replacement therapy was instituted and resulted in dramatic improvement . Electrolyte abnormalities and blood sugar was corrected during first week of treatment ( Na=130 and K=4.5 Meq /... |
test-577 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Vitals-and-Hematology | Vitals_Hema | [
"pulse rate was 102 / min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25 / min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm"
] |
test-578 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Gastrointestinal-System | GI | [
"no hepatosplenomegaly"
] |
test-579 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Patient-History | History | [
"An eleven month old female child, born of a primigravida mother of non - consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mother also not... |
test-580 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Neurology | Neuro | [
"developmental history were normal.",
"Neurological examination was normal.",
"without neurological involvement",
"Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp"
] |
test-581 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Laboratory-and-Imaging | Lab_Image | [
"Complete blood count showed mild anemia; Hb-9.2 mg / dl, total leucocyte count-8,200 and platelet count of 1.4 lac / cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2 % of circulating erythrocytes ( normal upto 2 % ). Liver and renal function tests were normal. E... |
test-582 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Cardiovascular-System | CVS | [] |
test-583 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Endocrinology | ENDO | [] |
test-584 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Genitourinary-System | GU | [
"red colored urine for last three months.",
"red colored urine",
"Bright red fluorescence was also noted in the urine, teeth and blood under wood 's lamp"
] |
test-585 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Respiratory-System | RESP | [] |
test-586 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Musculoskeletal-System | MSK | [
"without neurological involvement and evidence of arthritis"
] |
test-587 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Eyes-Ears-Nose-Throat | EENT | [] |
test-588 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Dermatology | DERM | [
"history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage",
"some pallor",
"Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs a... |
test-589 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Pregnancy | Pregnancy | [
"born of a primigravida mother",
"Birth and developmental history were normal."
] |
test-590 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Lymphatic-System | LYMPH | [] |
test-591 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Age-at-Presentation | Age (at case presentation) | [
"eleven month old"
] |
test-592 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Age-of-Onset | Age (of onset) | [
"since two months of age ."
] |
test-593 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"of congenital erythropoietic porphyria"
] |
test-594 | 3778801 | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | {'Case Report': "An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage. Mothe... | IEM-Treatment | IEM_Treatment | [] |
test-595 | 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... | Vitals-and-Hematology | Vitals_Hema | [] |
test-596 | 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... | Gastrointestinal-System | GI | [
"Spleen enlargement was also observed"
] |
test-597 | 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... | Patient-History | History | [
"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 within mi... |
test-598 | 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... | Neurology | Neuro | [] |
test-599 | 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... | Laboratory-and-Imaging | Lab_Image | [
"Urine porphyrins were extremely elevated to 16 μmol / dl with a predominance of coproporphyrins and uroporphyrins",
"accumulation of porphyrins in the blood",
"A single missense mutation corresponding to a G - to - T transversion ( 11,776 g > t ) in exon 2 was found, leading to an amino acid change from valine... |
test-600 | 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... | Cardiovascular-System | CVS | [] |
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