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 |
|---|---|---|---|---|---|
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Pregnancy | Pregnancy | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Lymphatic-System | LYMPH | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Age-at-Presentation | Age (at case presentation) | [
"47 - year - old",
"47 - year - old"
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Age-of-Onset | Age (of onset) | [] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CTX",
"CTX"
] |
7674721 | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | {'Chief complaints': 'A 47-year-old male was admitted to our institution with a history of intellectual disability for more than 30 years and behavioral abnormalities for the past 3 mo. He had a poor academic performance, having dropped out after completing elementary school. The patient could talk with others in daily... | IEM-Treatment | IEM_Treatment | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Vitals-and-Hematology | Vitals_Hema | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Gastrointestinal-System | GI | [
"poor feeding and poor weight gain."
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Patient-History | History | [
"A 15â€dayâ€old 46, XY neonate presented with severe adrenal insufficiency",
"At 2 years and 5 months, she underwent bilateral gonadectomy"
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Neurology | Neuro | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory tests revealed severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq / L ).",
"Not only mineralocorticoids and glucocorticoids, but also adrenal androgens and their metabolic products were barely detectable. On the other hand, concentrations of adrenocorticotropic hormone were extremely high,... |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Cardiovascular-System | CVS | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Endocrinology | ENDO | [
"severe adrenal insufficiency",
"Leydig cells were observed both with and without lipid droplets in the testes of this patient. We also demonstrated immunohistochemically that some testosterone‐synthesizing enzymes were maintained in this patient",
"severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq... |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Genitourinary-System | GU | [
"severe hyponatremia ( 115 mEq / L ) and hyperkalemia ( 8.6 mEq / L ).",
"Bilateral gonads were not palpable but were detectable near the internal inguinal rings on ultrasonography and MRI",
"Both gonads were identified as normal testes accompanied by vas deferens and epididymis. The testes measured 16 × 10 × 6... |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Respiratory-System | RESP | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Musculoskeletal-System | MSK | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Eyes-Ears-Nose-Throat | EENT | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Dermatology | DERM | [
"Hyperpigmentation suggestive of adrenal insufficiency was noted"
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Pregnancy | Pregnancy | [
"born at full term with completely normal female external genitalia. No abnormalities were identified in routine newborn screenings."
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Lymphatic-System | LYMPH | [] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Age-at-Presentation | Age (at case presentation) | [
"15‐day‐old"
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Age-of-Onset | Age (of onset) | [
"15‐day‐old"
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations ."
] |
7292164 | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | {'Case presentation': 'A 15‐day‐old 46, XY neonate presented with severe adrenal insufficiency. Congenital lipoid adrenal hyperplasia was diagnosed after detection of steroidogenic acute regulatory gene mutations. At 2 years and 5 months, she underwent bilateral gonadectomy. Leydig cells were observed both with and wit... | IEM-Treatment | IEM_Treatment | [
"hydrocortisone",
"adrenocortical hormone replacement therapy"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Vitals-and-Hematology | Vitals_Hema | [
"blood in the urine"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Gastrointestinal-System | GI | [
"abdominal pain, constipation",
"vomiting",
"vomiting, severe intermittent pain in the abdomen",
"abdominal pain, constipation,",
"vomiting"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Patient-History | History | [
"A gynecologist examined 26 - year - old patient in the 8th week of gestation, due to initial spontaneous abortion, abdominal pain, constipation, muscle weakness, vomiting and dark colour of urine. Previously, she had had a seizure attack at home",
"In her personal history she stated to have had a porphyria"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Neurology | Neuro | [
"seizure attack at home",
"reached full orientation and cooperativeness within few minutes. The post - intervention period remained uneventful and the neurological and psychological symptoms returned to the pre - exacerbation status",
"patient developed grand mal seizures and expressed agitation. Seizures reach... |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Laboratory-and-Imaging | Lab_Image | [
"In laboratory findings porphyrin derivatives ( delta aminolevulinic acid 7.76 mg / dU- ( reference range 1.5 - 7.5 ) and porphobilinogen 16.84 mg / dU- ( reference range 0 - 3.4 ) were elevated",
"Porphyria markers decreased within the next four weeks",
"The brain CT pointed atthe left parietal paramedian hypo... |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Cardiovascular-System | CVS | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Endocrinology | ENDO | [
"The first attack in our patient was most probably provoked by taking hormonal contraception",
"The last four months the patient was on oral contraceptives ( 0.035 mg ethinyl estradiol and 2.0 mg cyproteronacetat ) due to irregular menstrual cycles",
"Her therapy was dydrogesterone."
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Genitourinary-System | GU | [
"dark colour of urine",
"frequent urination, blood in the urine",
"irregular menstrual cycles",
"pronounced hyponatremia, hypokalemia, hypomagnesemia, and hypocalcaemia",
"dark colour of urine"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Respiratory-System | RESP | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Musculoskeletal-System | MSK | [
"muscle weakness",
"muscle weakness"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Eyes-Ears-Nose-Throat | EENT | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Dermatology | DERM | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Pregnancy | Pregnancy | [
"8th week of gestation, due to initial spontaneous abortion, abdominal pain",
"8th week of gestation, due to initial spontaneous abortion, abdominal pain,"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Lymphatic-System | LYMPH | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Age-at-Presentation | Age (at case presentation) | [
"26 - year - old patient",
"26 - year - old"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Age-of-Onset | Age (of onset) | [] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AIP"
] |
7296395 | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | {'Declaration of patient consent:': 'The authors certify that they have obtained all appropriate patient consent forms.', 'Gynecological issues': 'The first attack in our patient was most probably provoked by taking hormonal contraception. The progesterone and estrogen levels modified heme biosynthesis in subjects with... | IEM-Treatment | IEM_Treatment | [
"she was given haem arginate , glucose and symptomatic drugs , and she recovered completely",
"she was given haemarginate , glucose"
] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Vitals-and-Hematology | Vitals_Hema | [
"mild anemia and splenomegaly",
"normal complete blood count",
"enlarged spleen 4 cm below the left costal margin. Blood investigation showed pancytopenia",
"normal serum iron profile",
"Total white blood cell count ( 4000 - 11,000 / mm 3 ) 1700 / mm 3 3600 / mm 3 4500 / mm 3 Platelets ( 150,000 - 450,000 /... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Gastrointestinal-System | GI | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Patient-History | History | [
"presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose",
"She died at the age of 24 from a secondary infection",
"A 35 - year - old woman, bo... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Neurology | Neuro | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory reports revealed a normal complete blood count but an abnormal porphyrin profile",
"In case patients 1 and 3, sequencing of the UROS gene, exons 1 to 10 including flanking intronic regions, showed a homozygous transversion of T to G at nucleotide 416 in exon 7 ( c.416T > G ) leading to an L139R protei... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Cardiovascular-System | CVS | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Endocrinology | ENDO | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Genitourinary-System | GU | [
"Wood 's lamp examination revealed pink - red fluorescence of the urine",
"red discharge in her diaper"
] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Respiratory-System | RESP | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Musculoskeletal-System | MSK | [
"bilateral extremities showed sclerodermatous contracture and acro - osteolysis",
"Acro - osteolysis and contracture of the bilateral hands",
"progressive bilateral deformities of the hands",
"progressive deformities of both hands",
"mutilations of both hands",
"progressive deformities of her hands",
"d... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Eyes-Ears-Nose-Throat | EENT | [
"having had photophobia and diminished vision in the right eye",
"partial absorption of both ears; and brownish - pink - colored teeth",
"Ectropion and bilateral keratoconjunctivitis were apparent",
"recurrent keratoconjunctivitis and complications",
"microstomia ( Fig 3 ), erythrodontia",
"Wood 's lamp e... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Dermatology | DERM | [
"photoinduced skin blistering of the face and extremities",
"associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose",
"sclerodermatous changes and hypopigmented and hyperpigmented scars over the face and extremities ( Fig 2, A ); partial absorption of both ears",
"Hypertr... |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Pregnancy | Pregnancy | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Lymphatic-System | LYMPH | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Age-at-Presentation | Age (at case presentation) | [
"35 - year - old",
"17 - year - old"
] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Age-of-Onset | Age (of onset) | [
"presented at the age of 18 years",
"birth"
] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
8022107 | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | {'Case 2': 'The older sister of case patient 1 presented at the age of 18 years with photoinduced skin blistering of the face and extremities since her sixth day of life. She had associated progressive deformities of her bilateral hands and feet, bilateral ears, and nose. She reported having had photophobia and diminis... | IEM-Treatment | IEM_Treatment | [
"The patients were advised to use strict photoprotection"
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Vitals-and-Hematology | Vitals_Hema | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Gastrointestinal-System | GI | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Patient-History | History | [
"The proband was born full - term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL."
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Neurology | Neuro | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory evaluation showed low cortisol at < 0.2 µg / dL ( both at time of hypoglycemia and following 1 µg adrenocorticotropic hormone stimulation test, with normal for these being ≥18 µg / dL )",
"he developed hyponatremia ( sodium 130 mmol / L ) and hyperkalemia ( potassium 7.2 mmol / L )",
"Additional neo... |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Cardiovascular-System | CVS | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Endocrinology | ENDO | [
"persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL.",
"low cortisol at < 0.2 µg / dL ( both at time of hypoglycemia and following 1 µg adrenocorticotropic hormone stimulation test, with normal for these being ≥18 µg / dL ),",
"adrenal insufficiency",
"hyponatremia ( sodium 130 mmol / L ) and hy... |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Genitourinary-System | GU | [
"bilateral descended testes and a fused scrotum with a small phallus ( 1.5 cm × 0.08 cm )",
"hyponatremia ( sodium 130 mmol / L ) and hyperkalemia ( potassium 7.2 mmol / L"
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Respiratory-System | RESP | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Musculoskeletal-System | MSK | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Eyes-Ears-Nose-Throat | EENT | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Dermatology | DERM | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Pregnancy | Pregnancy | [
"born full - term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg / dL."
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Lymphatic-System | LYMPH | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Age-at-Presentation | Age (at case presentation) | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Age-of-Onset | Age (of onset) | [] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"confirming a diagnosis of LCAH ."
] |
8114284 | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | {'History, Clinical Examination, and Hormonal Laboratory Findings': 'The proband was born full-term to nonconsanguineous parents by spontaneous vaginal delivery following an uncomplicated gestation. On the day of delivery, he was found to have persistent hypoglycemia with blood glucoses of 20 to 30s mg/dL. Initial phys... | IEM-Treatment | IEM_Treatment | [
"hydrocortisone",
"Fludrocortisone"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Vitals-and-Hematology | Vitals_Hema | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Gastrointestinal-System | GI | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Patient-History | History | [
"An 18 - year - old woman came in with swelling in her ankles and a cognitive decline"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Neurology | Neuro | [
"cognitive decline",
"frequent stumbles and difficulty walking, followed by ataxia",
"Spastic paraparesis, rapid deep reflexes, and extensor plantar responses were discovered during a neurological examination. The Romberg test resulted in a positive result with 1 eye closed.",
"On T2 weighted and FLAIR sequen... |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Laboratory-and-Imaging | Lab_Image | [
"Total cholesterol, LDL, HDL, and triglyceride levels were all within normal limits. Otherwise, the amounts of cholestanol and bile alcohol in the bile and urine were high. An ultrasound of the ankles and knees revealed well - defined, homogeneous, hyperechoic masses that had nearly completely replaced the tendons ... |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Cardiovascular-System | CVS | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Endocrinology | ENDO | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Genitourinary-System | GU | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Respiratory-System | RESP | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Musculoskeletal-System | MSK | [
"swelling in her ankles",
"bilateral increasing ankle edema.",
"knees swelled",
"Over all Achilles, quadriceps, and patellar tendons, the osteo - myo - articular examination revealed bilateral painless and non - fistulized masses",
"An ultrasound of the ankles and knees revealed well - defined, homogeneous,... |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Eyes-Ears-Nose-Throat | EENT | [
"sight issues.",
"A bilateral thick cataract with impaired vision"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Dermatology | DERM | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Pregnancy | Pregnancy | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Lymphatic-System | LYMPH | [] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Age-at-Presentation | Age (at case presentation) | [
"18 - year - old"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Age-of-Onset | Age (of onset) | [
"7 years old"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CTX"
] |
8760527 | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | {'Case report': "An 18-year-old woman came in with swelling in her ankles and a cognitive decline. The patient was well until she was 7 years old, when she experienced bilateral increasing ankle edema. From the age of ten years old, her parents noted frequent stumbles and difficulty walking, followed by ataxia. The pat... | IEM-Treatment | IEM_Treatment | [] |
8138145 | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | Vitals-and-Hematology | Vitals_Hema | [] |
8138145 | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | Gastrointestinal-System | GI | [] |
8138145 | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | Patient-History | History | [
"presenting dermatosis in the neck with a 3 - month evolution",
"severe visual acuity diminution and angioid striae of the retina"
] |
8138145 | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | {'Case Number One': 'A female patient of 36 years, resident and original of the city of Tula, Hidalgo, Mexico, without pathological antecedents of importance, attended a medical appointment due to presenting dermatosis in the neck with a 3-month evolution. During physical examination, it was described to be characteriz... | Neurology | Neuro | [] |
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