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|---|---|---|---|---|---|
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Vitals-and-Hematology | Vitals_Hema | [
"standing height of 153.4 cm ( z score : −3.1 )"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Gastrointestinal-System | GI | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Patient-History | History | [
"A 28 - year - old man with classic salt - wasting CAH due to 21 - hydroxylase deficiency presented with subfertility. He had known bilateral TARTs"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Neurology | Neuro | [
"insomnia"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Laboratory-and-Imaging | Lab_Image | [
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ), and semen analysis showed azoospermia.",
"Biochemical evaluation at 0800 before medication showed 17 - hydroxyprogesterone 13,060 ng / dL ( reference : 13 to 1... |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Cardiovascular-System | CVS | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Endocrinology | ENDO | [
"subfertility",
"bilateral TARTs, first noted at age 18 and occupying 1.2 % of his total testicular volume ( 0.38 mL of 30.68 mL )",
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ),",
"short - statured",
... |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Genitourinary-System | GU | [
"subfertility",
"bilateral TARTs, first noted at age 18 and occupying 1.2 % of his total testicular volume ( 0.38 mL of 30.68 mL )",
"A recent testicular ultrasound showed increased TART volume, now occupying 16 % of his total testicular volume ( 5.01 mL of 32.30 mL testicular volume ), and semen analysis showe... |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Respiratory-System | RESP | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Musculoskeletal-System | MSK | [
"On examination, the patient was short - statured, with a standing height of 153.4 cm ( z score : −3.1 ); midparental height was 174.1 cm ( z score : −0.4 )."
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Eyes-Ears-Nose-Throat | EENT | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Dermatology | DERM | [
"supraclavicular fullness with predominantly central weight gain and the presence of abdominal striae"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Pregnancy | Pregnancy | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Lymphatic-System | LYMPH | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Age-at-Presentation | Age (at case presentation) | [
"28 - year - old"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Age-of-Onset | Age (of onset) | [] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"with classic salt - wasting CAH due to 21 - hydroxylase deficiency"
] |
6853670 | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | {'1. Case Description': 'A 28-year-old man with classic salt-wasting CAH due to 21-hydroxylase deficiency presented with subfertility. For the past 6 months, he described a minimal coital frequency of 2 or 3 times per week without the use of contraception. He had been receiving prednisone 5 mg each morning and fludroco... | IEM-Treatment | IEM_Treatment | [
"He had been receiving prednisone 5 mg each morning and fludrocortisone 50 μg twice daily over the last decade",
"His glucocorticoid therapy was switched from prednisone 5 mg daily to dexamethasone 250 μg at bedtime to suppress the nocturnal ACTH surge ."
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Vitals-and-Hematology | Vitals_Hema | [
"143 cm/49 kg, body surface area 1.37 m 2",
"her initial systolic blood pressure and heart rate were 131 mmHg and 68 beats per minute, respectively. Her blood pressures were almost equal in the upper and lower extremities",
"Her initial hemoglobin level was 11.8 g / dL"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Gastrointestinal-System | GI | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Patient-History | History | [
"A 32 - year - old woman with Turner syndrome ( 143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden - onset back pain"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Neurology | Neuro | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Laboratory-and-Imaging | Lab_Image | [
"Her initial hemoglobin level was 11.8 g / dL",
"An initial computed tomography ( CT ) scan revealed intimal dissection on aortic isthmus level and a dissected flap extending from the left subclavian artery to the descending aorta. An elongated transverse aortic arch ( ETA ) and an aberrant right subclavian arter... |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Cardiovascular-System | CVS | [
"sudden - onset back pain",
"electrocardiography revealed a normal sinus rhythm"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Endocrinology | ENDO | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Genitourinary-System | GU | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Respiratory-System | RESP | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Musculoskeletal-System | MSK | [
"short stature"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Eyes-Ears-Nose-Throat | EENT | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Dermatology | DERM | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Pregnancy | Pregnancy | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Lymphatic-System | LYMPH | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Age-at-Presentation | Age (at case presentation) | [
"32 - year - old"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Age-of-Onset | Age (of onset) | [] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Turner syndrome"
] |
6340697 | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | {'CASE': 'A 32-year-old woman with Turner syndrome (143 cm/49 kg, body surface area 1.37 m 2 ) was admitted to Kyungpook National University Hospital center with complaint of sudden-onset back pain. She had been diagnosed with Turner syndrome twenty years prior following examination for her short stature. She was regul... | IEM-Treatment | IEM_Treatment | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Vitals-and-Hematology | Vitals_Hema | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Gastrointestinal-System | GI | [
"vomiting"
] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Patient-History | History | [
"This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles",
"Our patient is a 13 - year - old boy who was the second child born to non - consanguineous parents. He noticed tiredness and pain in muscles on walking. Patient had about 6 episodes of weakness of all f... |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Neurology | Neuro | [
"encephalopathy, fatigue, muscle weakness",
"All reflexes were preserved and sensations were normal"
] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Laboratory-and-Imaging | Lab_Image | [
"ketonuria",
"His tandem mass spectroscopy showed elevated medium - chain acylcarnitine and long - chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol",
"Investigations showed severe ketonuria ( creatine kinase, 1271 IU / L, lactate dehydrogenase, 2622 IU / ... |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Cardiovascular-System | CVS | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Endocrinology | ENDO | [
"thin built child with a small goiter"
] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Genitourinary-System | GU | [
"brown colored urine after exertion"
] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Respiratory-System | RESP | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Musculoskeletal-System | MSK | [
"muscle weakness",
"lipid storage in muscles",
"tiredness and pain in muscles on walking",
"6 episodes of weakness of all four limbs presenting as difficulty in getting up from sitting posture and falls while walking",
"brown colored urine after exertion",
"Wasting of supraspinatus, infraspinatus, deltoid... |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Eyes-Ears-Nose-Throat | EENT | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Dermatology | DERM | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Pregnancy | Pregnancy | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Lymphatic-System | LYMPH | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Age-at-Presentation | Age (at case presentation) | [
"13 - year - old"
] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Age-of-Onset | Age (of onset) | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
6144612 | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | {'Observation': 'This child presented with encephalopathy, fatigue, muscle weakness, ketonuria, and lipid storage in muscles. His tandem mass spectroscopy showed elevated medium-chain acylcarnitine and long-chain acylcarnitine suggestive of MADD. His urine showed elevated excretion of 2HG, adipate, and arabitol.', 'Dec... | IEM-Treatment | IEM_Treatment | [
". The patient was started on high carbohydrate diet with restriction on protein , fat and started on riboflavin ( 200 mg ) and carnitine ( 1.5 g ) per day ."
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Vitals-and-Hematology | Vitals_Hema | [
"HR of twin 1 exhibited a compensatory increase to a maximum of 110 beats / min",
"HR increased by 45 to 120 beats / min",
"twin 2 exhibited a diastolic blood pressure ( DBP ) that exceeded the threshold for sex and height and had DBP readings 20 % higher than those of twin 1",
"Wt. ( kg ) 43.6 46.0 Ht. ( cm ... |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Gastrointestinal-System | GI | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Patient-History | History | [
"Monozygotic female adolescent twins, aged 16 years old, were originally diagnosed in infancy with NC and found to have a 57 - kb deletion of the CTNS gene, the most frequent cause of NC in Western populations.",
"Both twins were transplanted 6 years previously with kidneys from a single deceased donor source. Si... |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Neurology | Neuro | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Laboratory-and-Imaging | Lab_Image | [
"Measured GFR ( ml / min per 1.73 m 2 ) 59.3 70.0",
"Tacrolimus level ( ng / ml ) 5.5 4.5",
"Creatinine, blood urea nitrogen, and cystatin C levels were consistent with the CKD stage of each twin. Both patients also had blood drawn for measurement of their leukocyte cystine levels, which were obtained at the ti... |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Cardiovascular-System | CVS | [
"HR of twin 1 exhibited a compensatory increase to a maximum of 110 beats / min at 6.9 minutes into the HUT and remained at this level until she was returned to a horizontal and/or supine position. This was a change of 52 beats / min. In Figure 1 b, a systolic BP ( SBP ) decline of 29.8 mm Hg can be seen at 0.3 min... |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Endocrinology | ENDO | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Genitourinary-System | GU | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Respiratory-System | RESP | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Musculoskeletal-System | MSK | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Eyes-Ears-Nose-Throat | EENT | [
"cystine crystal accumulation in the lens and cornea",
"photophobia secondary to corneal cystine crystal deposition"
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Dermatology | DERM | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Pregnancy | Pregnancy | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Lymphatic-System | LYMPH | [] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Age-at-Presentation | Age (at case presentation) | [
"16 years old"
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Age-of-Onset | Age (of onset) | [
"infancy"
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosed in infancy with NC and found to have a 57 - kb deletion of the CTNS gene , the most frequent cause of NC in Western populations ."
] |
6224624 | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | {'Testing Results': 'Figures 1 a to d represent the continuous HR and BP recordings of twin 1 ( Figure 1 a and b) and twin 2 ( Figure 1 c and d) during the HUT over the 10-second transition from a supine horizontal position to a 70° upright tilt. As seen in Figure 1 a, the HR of twin 1 exhibited a compensatory increase... | IEM-Treatment | IEM_Treatment | [
"They were on cysteamine bitartrate ( cystagon - immediate release ) since diagnosis . Each was currently prescribed Procysbi ( cysteamine - delayed release ) 675 mg every 12 hours . In addition , each twin was prescribed cysteamine hydrochloride ( 0.44 % ) eye drops due to cystine crystal accumulation in the lens ... |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Vitals-and-Hematology | Vitals_Hema | [
"coagulopathy",
"Ferritin level was elevated at 8,397 umol / L.",
"normal ammonia level and clotting profile all along",
"Ferritin level was high at 9,801 umol / L."
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Gastrointestinal-System | GI | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Patient-History | History | [
"The baby presented with recurrent hypoglycemia shortly after birth"
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Neurology | Neuro | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Laboratory-and-Imaging | Lab_Image | [
"Blood tests on the second day of life showed cholestasis ( up to 145 umol / L ), hypoalbuminemia, hyperammonemia ( up to 453 umol / L ), and coagulopathy, which progressively worsened throughout the first week of life. Work - up for neonatal liver failure was negative for metabolic disease, and surgical and infect... |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Cardiovascular-System | CVS | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Endocrinology | ENDO | [
"recurrent hypoglycemia"
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Genitourinary-System | GU | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Respiratory-System | RESP | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Musculoskeletal-System | MSK | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Eyes-Ears-Nose-Throat | EENT | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Dermatology | DERM | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Pregnancy | Pregnancy | [
"A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg ( small for gestational age ).",
"the other twin girl was born with a birth weight of 2.4 kg"
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Lymphatic-System | LYMPH | [] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Age-at-Presentation | Age (at case presentation) | [
"shortly after birth"
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Age-of-Onset | Age (of onset) | [
"shortly after birth"
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"confirmed the diagnosis of neonatal hemochromatosis ( NH ; likely due to gestational alloimmune liver disease , GALD ) ."
] |
6246115 | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | {'Clinical Presentation': 'A dichorionic diamniotic male twin was born at 35 weeks of gestation with a birth weight of 1.6 kg (small for gestational age). The baby presented with recurrent hypoglycemia shortly after birth. Blood tests on the second day of life showed cholestasis (up to 145 umol/L), hypoalbuminemia, hyp... | IEM-Treatment | IEM_Treatment | [
"Medical treatment was given with exchange transfusion and intravenous immunoglobulin ( IVIg )"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Vitals-and-Hematology | Vitals_Hema | [
"Her height was 154 cm, weight 48 kg"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Gastrointestinal-System | GI | [
"hepatomegaly",
"marked hepatomegaly",
"hepatic dysfunction",
"abdominal pains"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Patient-History | History | [
"apparent reduction of the subcutaneous adipose tissue at 1 mo of age",
"Poor weight gain was seen during a health checkup at 3 mo of age"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Neurology | Neuro | [
"An intelligence test ( WISC - IV ) at 12 yr of age demonstrated that his full - scale intelligence quotient was 58, indicating slightly retarded mental development with mild intellectual disability",
"insomnia, headaches",
"her psychological state that is in line with her school year",
"headaches and insomni... |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory examination demonstrated extremely high triglyceride level and low leptin level ( Table 1 ). Compound heterozygous variants of BSCL2 gene were identified; these were identical to the gene variants found in his sister",
"Serum triglyceride and insulin levels increased to more than 2000 mg / dL and 700 ... |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Cardiovascular-System | CVS | [
"Cardiac ultrasonography demonstrated hypertrophic cardiomyopathy"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Endocrinology | ENDO | [
"extremely high triglyceride level and low leptin level",
"Serum triglyceride and insulin levels increased to more than 2000 mg / dL and 700 μU / mL, respectively, at 2 mo of age",
"hyperlipidemia and hyperinsulinemia resolved",
"His insulin resistance worsened and his triglyceride level increased during pub... |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Genitourinary-System | GU | [
"irregular menstruation"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Respiratory-System | RESP | [
"obstructive sleep apnea"
] |
6801357 | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | {'Case 2': 'The male patient who was born at 36 wk of gestational age was the younger (3 yr younger) brother of case 1. He also showed apparent reduction of the subcutaneous adipose tissue at 1 mo of age. At that time, he already had characteristic symptoms of CGL, including an inverted triangular face, sparse subcutan... | Musculoskeletal-System | MSK | [] |
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