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 |
|---|---|---|---|---|---|
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | Pregnancy | Pregnancy | [
"full term normal vaginal delivery"
] |
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | Lymphatic-System | LYMPH | [] |
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | Age-at-Presentation | Age (at case presentation) | [
"21 - year old"
] |
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | Age-of-Onset | Age (of onset) | [
"early childhood"
] |
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"non - classical congenital adrenal hyperplasia ."
] |
4040068 | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | {'CASE REPORT': "A young stocky built adult patient appearing in early twenties dressed in shirt and pant with a thick moustache and beard accompanied with parents walked inside psychiatry out-patient department (OPD) with a referral from plastic surgery OPD concerning gender affirmation surgery. Patient introduced sel... | IEM-Treatment | IEM_Treatment | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Vitals-and-Hematology | Vitals_Hema | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Gastrointestinal-System | GI | [
"weight loss,",
"abdominal pain",
"no symptoms such as abdominal pain"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Patient-History | History | [
"A 37 - year - old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous ( IV ) drug abuser that required a permanent indwelling venous catheter... |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Neurology | Neuro | [
"no symptoms such as abdominal pain, dark urine, and neurologic deficit."
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Laboratory-and-Imaging | Lab_Image | [
"chest computed tomography revealed multiple cavities in both lungs",
"A large mobile veg on anterior leaflet of tricuspid valve commissure ( TVC ) with severe TR was also demonstrated in his transthoracic echocardiography"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Cardiovascular-System | CVS | [
"paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Endocrinology | ENDO | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Genitourinary-System | GU | [
"no symptoms such as abdominal pain, dark urine"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Respiratory-System | RESP | [
"dyspnea",
"cough",
"paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea",
"multiple cavities in both lungs"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Musculoskeletal-System | MSK | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Eyes-Ears-Nose-Throat | EENT | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Dermatology | DERM | [
"sweating"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Pregnancy | Pregnancy | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Lymphatic-System | LYMPH | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Age-at-Presentation | Age (at case presentation) | [
"37 - year - old"
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Age-of-Onset | Age (of onset) | [] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"He was diagnosed as having AIP 5 years ago ."
] |
4900341 | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | {'CASE REPORT': 'A 37-year-old male was admitted with dyspnea, fever, weight loss, cough, sweating, paroxysmal nocturnal dyspnea, exertional dyspnea, orthopnea, and abdominal pain. He was diagnosed as having AIP 5 years ago. Moreover, he was an intravenous (IV) drug abuser that required a permanent indwelling venous ca... | IEM-Treatment | IEM_Treatment | [
"parenteral carbohydrate as dextrose 50 % to prevent AIP attack"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Vitals-and-Hematology | Vitals_Hema | [
"height is 141 cm, weight 47 kg",
"blood pressure ( BP ) was normal",
"normal BP"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Gastrointestinal-System | GI | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Patient-History | History | [
"A 25 - year - old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up.",
"She underwent clitoroplasty at 21 years of age"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Neurology | Neuro | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Laboratory-and-Imaging | Lab_Image | [
"Her karyotype was reported as 45, X{20}/46, XX{80 },",
"17 - hydroxy progesterone ( 17 - OHP ) level was 1.3 ng / ml ( 0.2–1.4 ng / ml ), cortisol ( AM ) was 5–6 μg / dl ( 3.7–9.5 μg / dl ) dehydroepiandrosterone sulfate ( DHEAS ) was 189.6 μg / dl ( 65–380 μg / dl ) and serum total testosterone was 318 μg / dl ... |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Cardiovascular-System | CVS | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Endocrinology | ENDO | [
"primary amenorrhea since 16 years of age.",
"developed facial hair when she was 8 - year - old. There was hair growth in the chest region. Her voice became hoarse and also there was a gradual enlargement of the clitoris",
"not being able to achieve menarche.",
"17 - hydroxy progesterone ( 17 - OHP ) level wa... |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Genitourinary-System | GU | [
"gradual enlargement of the clitoris.",
"vagina and cervix were healthy, the clitoris was looking normal ( clitoroplasty done in past ) and urethra was mildly displaced posteriorly",
"uterus measured 6 cm × 3 cm × 3 cm; both the ovaries were normal size with good antral follicular count",
"hypoplastic uteru... |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Respiratory-System | RESP | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Musculoskeletal-System | MSK | [
"short stature"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Eyes-Ears-Nose-Throat | EENT | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Dermatology | DERM | [
"developed facial hair when she was 8 - year - old. There was hair growth in the chest region",
"hirsutism was evident. Her simplified Ferriman – Gallwey score for hirsutism was 9 ( ≥3 )."
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Pregnancy | Pregnancy | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Lymphatic-System | LYMPH | [] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Age-at-Presentation | Age (at case presentation) | [
"25 - year - old"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Age-of-Onset | Age (of onset) | [
"8 - year - old ."
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"the diagnosis of NCAH was reached"
] |
4691978 | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | {'CASE REPORT': 'A 25-year-old female diagnosed as mosaic Turner syndrome was referred to our institution for primary infertility work up. On evaluating her history, it was found that she was on oral contraceptives for primary amenorrhea since 16 years of age. She had developed facial hair when she was 8-year-old. Ther... | IEM-Treatment | IEM_Treatment | [
"She was started on low dose steroids to suppress the adrenal production of androgens ."
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Vitals-and-Hematology | Vitals_Hema | [
"144 cm in height"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Gastrointestinal-System | GI | [
"history of chronic intractable diarrhea"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Patient-History | History | [
"A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration",
"he had surgery for bilateral juvenile cataracts at the age of 8, along with history of chronic intractable diarrhea. He was coherent and co - operative but slow cerebrated with low intellig... |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Neurology | Neuro | [
"He was coherent and co - operative but slow cerebrated with low intelligence. There were no central nervous system symptoms like convulsions, abnormal gait or incoordination of movements",
"achieved complete improvement in his mental status"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Laboratory-and-Imaging | Lab_Image | [
"Initial radiographs of both ankles showed homogenous soft tissue shadow in the lower halves of tendoachilles ( Fig. 3 ). Magnetic resonance imaging showed localized homogenous hyper intense signals with fusiform swellings of tendoachilles",
"Biopsy of the excised specimen revealed it to be a xanthoma characteriz... |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Cardiovascular-System | CVS | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Endocrinology | ENDO | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Genitourinary-System | GU | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Respiratory-System | RESP | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Musculoskeletal-System | MSK | [
"bilateral slow growing and painful swellings of his achilles tendons",
"each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcaneal tuberosity ( Fig. 2 ). He was more symptomatic on the right side",
"significan... |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Eyes-Ears-Nose-Throat | EENT | [
"surgery for bilateral juvenile cataracts at the age of 8,",
"peculiar yellow conjunctiva"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Dermatology | DERM | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Pregnancy | Pregnancy | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Lymphatic-System | LYMPH | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Age-at-Presentation | Age (at case presentation) | [
"19 year old",
"19 year"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Age-of-Onset | Age (of onset) | [] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Thus a diagnosis of cerebro - tendinous xanthomatosis was made",
"cerebro - tendinous xanthomatosis",
"cerebrotendinous xanthomatosis"
] |
4719269 | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | {'Case Report': 'A 19 year old boy presented with bilateral slow growing and painful swellings of his achilles tendons of 4 year duration. On clinical examination each swelling was of size 5×2 cm, firm, nodular, tender and localized to the distal portion of the tendoachilles just above its insertion point to the calcan... | IEM-Treatment | IEM_Treatment | [
"medical therapy with chenodeoxycholic acid ( CDCA ) , a synthetic bile acid ."
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Vitals-and-Hematology | Vitals_Hema | [
"red colored urine since birth,",
"height 133 cm ( < −3 standard deviations",
"anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis",
"fluorescent red urine"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Gastrointestinal-System | GI | [
"protuberant abdomen with hepatosplenomegaly",
"hepatomegaly, splenomegaly"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Patient-History | History | [
"A 13 - year - old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown - pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun - exposed areas, which healed with scar... |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Neurology | Neuro | [
"mental developmental history were normal"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Laboratory-and-Imaging | Lab_Image | [
"Investigations revealed anemia an Hb of 8.3 g / dl, with peripheral blood smear revealing microcytic hypochromic anemia with anisopoikilocytosis. Urine was port wine color, which fluoresced in Wood 's lamp. Porphobilinogen was not detected on Watson – Schwartz test in the urine",
"Ultrasonography of abdomen conf... |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Cardiovascular-System | CVS | [] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Endocrinology | ENDO | [] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Genitourinary-System | GU | [
"red colored urine since birth",
"undescended testis on the left side",
"undescended testes with hydrocele on the right side",
"fluorescent red urine"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Respiratory-System | RESP | [] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Musculoskeletal-System | MSK | [
"short statured"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Eyes-Ears-Nose-Throat | EENT | [
"reddish brown - pigmented teeth",
"Teeth showed brownish - red pigmentation, fluorescent under Wood 's lamp",
"erythrodontia"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Dermatology | DERM | [
"excessive facial hair",
"burning sensation and recurrent blistering over the sun - exposed areas, which healed with scarring and disfigurement of nails since 1 - year of age",
"obvious hypertrichosis over face involving the cheek and forehead, the forearms and multiple bullae over the dorsum of hands, fingers,... |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Pregnancy | Pregnancy | [
"birth and mental developmental history were normal"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Lymphatic-System | LYMPH | [] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Age-at-Presentation | Age (at case presentation) | [
"13 - year - old"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Age-of-Onset | Age (of onset) | [
"since 6 months of age"
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Based on the clinical presentation with onset in early childhood of a photosensitive disorder with erythrodontia , hypertrichosis , fluorescent red urine , absence of porphobilinogen in urine , and a demonstrated mutation of the UROS gene the child was diagnosed as a case of CEP ."
] |
4966423 | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | {'Case Report': "A 13-year-old male child born off a consanguineous marriage presented with complaints of red colored urine since birth, reddish brown-pigmented teeth, and excessive facial hair since 6 months of age. He also had a burning sensation and recurrent blistering over the sun-exposed areas, which healed with ... | IEM-Treatment | IEM_Treatment | [
"He has now been taken up for bone marrow transplantation with his sister serving as human leukocyte antigens ( HLA ) matched donor ."
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Vitals-and-Hematology | Vitals_Hema | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Gastrointestinal-System | GI | [
"suspected acute cholecystitis",
"acute cholecystitis",
"abdominal pain, nausea, and vomiting",
"bout of severe abdominal pain ( diagnosed as cholecystitis )",
"contracted gallbladder and stones"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Patient-History | History | [
"We present a case of a 26 - year - old female with suspected acute cholecystitis, mental status changes, and seizures"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Neurology | Neuro | [
"mental status changes, and seizures",
"repeated seizures",
"delirium, lower limb weakness, hyporeflexia, and psychological abnormalities",
"unexplained behavioral disturbances and lower limb weakness",
"cerebrospinal fluid ( CSF ) analysis findings were all within normal range"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Laboratory-and-Imaging | Lab_Image | [
"elevated urinary porphobilinogen, 5 - aminolevulinic acid, and total porphyrins",
"DNA molecular testing showed a novel heterozygous mutation ( c. 760delC p. L254X ) in the exon11 of the HMBS gene",
"sodium levels ranged between 118–125 mmol / L ( 135–144 mmol / L ), mildly elevated transaminases ( aspartate a... |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Cardiovascular-System | CVS | [
"elevated and uncontrolled blood pressure, sinus tachycardia"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Endocrinology | ENDO | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Genitourinary-System | GU | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Respiratory-System | RESP | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Musculoskeletal-System | MSK | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Eyes-Ears-Nose-Throat | EENT | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Dermatology | DERM | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Pregnancy | Pregnancy | [
"abdominal pain, nausea, and vomiting during first pregnancy",
"patient delivered a healthy child"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Lymphatic-System | LYMPH | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Age-at-Presentation | Age (at case presentation) | [
"26 - year - old"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Age-of-Onset | Age (of onset) | [] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"AIP"
] |
4235503 | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | {'Case report': 'We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing ... | IEM-Treatment | IEM_Treatment | [
"The patient was treated with intravenous heme arginate ( 4 mg / kg / day ) for 5 days , that was followed by an improvement in the chemical and clinical parameters"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Vitals-and-Hematology | Vitals_Hema | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Gastrointestinal-System | GI | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Patient-History | History | [
"A 4 - year - old female patient with a nasal anomaly was admitted to our outpatient clinic"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Neurology | Neuro | [] |
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