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 |
|---|---|---|---|---|---|
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... | Eyes-Ears-Nose-Throat | EENT | [] |
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... | Dermatology | DERM | [
"apparent reduction of the subcutaneous adipose tissue",
"inverted triangular face, sparse subcutaneous tissue",
"generalized reduction in the subcutaneous adipose tissue"
] |
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... | Pregnancy | Pregnancy | [
"born at 36 wk of gestational age",
"born to non - consanguineous Japanese parents at 38 wk of gestational 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... | Lymphatic-System | LYMPH | [] |
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... | Age-at-Presentation | Age (at case presentation) | [
"16 yr and 4 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... | Age-of-Onset | Age (of onset) | [
"1 mo of age .",
"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... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CGL",
"She was therefore diagnosed with CGL ( Berardinelli - Seip syndrome ) ."
] |
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... | IEM-Treatment | IEM_Treatment | [
"At 11 yr and 6 mo of age , metreleptin was introduced at a dose of 0.04 mg / kg / d , and there was an immediate improvement of hyperinsulinemia and hyperlipidemia",
"At 11 yr and 5 mo of age , she was enrolled in a clinical trial of metreleptin . Metreleptin treatment was initiated at a dose of 0.06 mg / kg / d... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Vitals-and-Hematology | Vitals_Hema | [
"( height=107 cm, z -score=-0.4, 32nd percentile; weight=20.8 kg, z -score=+0.8, 80th percentile; body mass index=18.2 kg / m 2 )",
"height=170 cm, z -score=-0.8, 21st percentile; weight=110 kg, z -score=+2.4, 99th percentile; BMI=38.1 kg / m 2",
"height=94 cm, z -score=-0.05, 48th percentile; weight=14 kg, z -... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Gastrointestinal-System | GI | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Patient-History | History | [
"The proband was a male born to consanguineous parents ( Fig. 1 ). He had an acute viral fever at 4 years of age, and was found to have mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively )",
"no history of prostration with illness, and normally - timed pubertal changes... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Neurology | Neuro | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Laboratory-and-Imaging | Lab_Image | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively ). Further investigation revealed increased 17 - hydroxyprogesterone ( 17 - OHP ) and adrenocorticotropic hormone ( ACTH ) levels ( Table 1 ), and a suboptimal rise in cortisol levels following ACTH1 - 24 stimulation ( ... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Cardiovascular-System | CVS | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Endocrinology | ENDO | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively ). Further investigation revealed increased 17 - hydroxyprogesterone ( 17 - OHP ) and adrenocorticotropic hormone ( ACTH ) levels ( Table 1 ), and a suboptimal rise in cortisol levels following ACTH1 - 24 stimulation ( ... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Genitourinary-System | GU | [
"mild hyponatremia and hyperkalemia ( sodium 131 mEq / L and potassium 6.1 mEq / L, respectively )",
"normal male genitalia, descended testes, and no evidence of precocious adrenarche or puberty",
"normal testes with Tanner stage V pubic hair",
"normal serum electrolytes"
] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Respiratory-System | RESP | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Musculoskeletal-System | MSK | [
". At the time of diagnosis proband was of normal growth and stature ( height=107 cm, z -score=-0.4, 32nd percentile; weight=20.8 kg, z -score=+0.8, 80th percentile; body mass index=18.2 kg / m 2 ).",
"He was obese with normal stature ( height=170 cm, z -score=-0.8, 21st percentile; weight=110 kg, z -score=+2.4, ... |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Eyes-Ears-Nose-Throat | EENT | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Dermatology | DERM | [
"no hirsutism"
] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Pregnancy | Pregnancy | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Lymphatic-System | LYMPH | [] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Age-at-Presentation | Age (at case presentation) | [
"17 years of age",
"age of 15 and 11 months"
] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Age-of-Onset | Age (of onset) | [
"4 years of age ,",
"3 - year - old"
] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"If p. R124C is pathogenic , the most likely phenotype due to compound heterozygosity for p. R124C and a large deletion would be NC CAH",
"a diagnosis of NC CAH was confirmed"
] |
6177667 | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | {'Case report': 'This research related to human use has been complied with all the relevant national regulations, institutional policies and in accordance with the tenants of the Helsinki declaration, and has been approved by the author\'s or equivalent committee. Informed consent was obtained from the parents of the p... | IEM-Treatment | IEM_Treatment | [
"replacement doses of hydrocortisone and fludrocortisone"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Vitals-and-Hematology | Vitals_Hema | [
"height 149.0 cm, weight 39.2 kg, BMI 17.7 kg / m 2"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Gastrointestinal-System | GI | [
"no history of neonatal jaundice or chronic infantile diarrhea"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Patient-History | History | [
"The patient was a 50 - year - old Japanese woman from non - consanguineous parents. She has no siblings but had a child. There was no apparent family history ( parents, child and parent ’s siblings ) of neurological disorders, cardiovascular diseases or any lipid storage diseases inducing xanthomas, including CTX.... |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Neurology | Neuro | [
"did not have dementia based on the Revised Hasegawa Dementia Scale ( HSD - R; 26/30 ), Mini - Mental State Examination ( MMSE; 27/30 ), and Frontal Assessment Battery ( FAB; 16/18 ) scores. On a neurological examination, her gait appeared somewhat spastic, and all of her deep tendon reflexes were mildly enhanced b... |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Laboratory-and-Imaging | Lab_Image | [
"no elevation in the levels of serum cholesterol or triglycerides or deficiencies in apolipoproteins or thyroid hormones",
"The primary bile acids were extremely low in the serum and urine when measured by both high - performance liquid chromatography ( HPLC ) and gas chromatography / mass spectrometer ( GC / MS ... |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Cardiovascular-System | CVS | [
"Ultrasound of the carotid arteries showed a slightly thickened intima - media complex at the left common carotid artery ( maximum intima - media thickness, 1.2 mm ). However, there was no evidence of cardiovascular disease on electrocardiogram, echocardiography and MR angiography of the brain and lower extremities... |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Endocrinology | ENDO | [] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Genitourinary-System | GU | [] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Respiratory-System | RESP | [] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Musculoskeletal-System | MSK | [
"xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle",
"osteoporosis as determined by dual - energy X - ray absorptiometry, which showed a bone density of 61 % and 75 % the young - adult - mean in the lumbar vertebra and femoral neck, respectively",
"painless tendon thickness of the... |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Eyes-Ears-Nose-Throat | EENT | [
"age - appropriate slight cataracts in the bilateral eyes"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Dermatology | DERM | [] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Pregnancy | Pregnancy | [
"no history of neonatal jaundice"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Lymphatic-System | LYMPH | [] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Age-at-Presentation | Age (at case presentation) | [
"50 - year - old"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Age-of-Onset | Age (of onset) | [
"7 to 10 years of age"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"the patient was diagnosed with CTX"
] |
6028668 | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | {'Clinical, laboratory and imaging examinations': 'The patient was lean (height 149.0 cm, weight 39.2 kg, BMI 17.7 kg/m 2 ), and the findings of a physical examination were unremarkable except for confirmation of xanthomas on the bilateral Achilles tendons ( Fig. 1B ) and right triceps muscle. She had age-appropriate s... | IEM-Treatment | IEM_Treatment | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Vitals-and-Hematology | Vitals_Hema | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Gastrointestinal-System | GI | [
"poor feeding by breast and bottle"
] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Patient-History | History | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Neurology | Neuro | [
"hypotonic, irritable, and demonstrated poor feeding by breast and bottle",
"in utero hiccups",
"seizure - like activity",
"seizures since birth",
"MRI showed myelination confined to the brainstem, central cerebellum, and posterior limbs of the internal capsule ( Fig. 1 ). There was T2 hyperintensity of the... |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Laboratory-and-Imaging | Lab_Image | [
"MRI showed myelination confined to the brainstem, central cerebellum, and posterior limbs of the internal capsule ( Fig. 1 ). There was T2 hyperintensity of the white matter ( Fig. 2 ) and superior vermian volume loss ( Fig. 3 ). The corpus callosum was unmyelinated. MRI spectroscopy revealed a low N - acetylaspar... |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Cardiovascular-System | CVS | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Endocrinology | ENDO | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Genitourinary-System | GU | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Respiratory-System | RESP | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Musculoskeletal-System | MSK | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Eyes-Ears-Nose-Throat | EENT | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Dermatology | DERM | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Pregnancy | Pregnancy | [
"born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate"
] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Lymphatic-System | LYMPH | [] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Age-at-Presentation | Age (at case presentation) | [
"age of 3 months"
] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Age-of-Onset | Age (of onset) | [
"in utero"
] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"The elevation of these 2 compounds confirmed the diagnosis of adenylosuccinate lyase deficiency ."
] |
6260459 | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | {'Case report': "A male child was born at term by an uncomplicated pregnancy. The patient was hypotonic, irritable, and demonstrated poor feeding by breast and bottle in the first week of life. He had a history of in utero hiccups, which persisted as a neonate. At the age of 3 months, he was admitted to the hospital wi... | IEM-Treatment | IEM_Treatment | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Vitals-and-Hematology | Vitals_Hema | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Gastrointestinal-System | GI | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Patient-History | History | [
"This patient was a 4 - year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added",
"Reports of head drop attacks were found in the history",
"This patient was a 4 year -... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Neurology | Neuro | [
"head drop attacks",
"deep tendon reflexes were diminished or absent. Although cognitive function of this patient was normal, motor and speech development was delayed. Two years later, development of seizure and tremor was reported. Tremor was evident in all limbs on physical examination",
"development of neuro... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory serologic tests were normal. Radiography of both hands showed reduction in density of bones, swelling of both wrists, deformity of wrist bones, marginal erosion of wrist bones and distal phalanges in PIP and DIP joints which all were suggestive of advanced juvenile idiopathic arthritis ( JIA ). Chest X ... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Cardiovascular-System | CVS | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Endocrinology | ENDO | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Genitourinary-System | GU | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Respiratory-System | RESP | [
"Chest X - ray also showed alveolar opacities with air bronchogram in the upper lobe of right lung which were in favor of pneumonia",
"Bronchoscopy showed a circular contraction in subglottic region of larynx",
"wheezing",
"admitted 4 times due to respiratory distress. Finally she died from respiratory failur... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Musculoskeletal-System | MSK | [
"wrist swelling",
"Swelling of other joints were gradually added",
"swelling and limitation in range of motion was detected in PIP, MCP, wrist, elbow and shoulder joints of upper limbs and PIP, MTP, tarsal joints and ankle in lower limbs. Multiple firm subcutaneous nodules were found on joints – mainly on exten... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Eyes-Ears-Nose-Throat | EENT | [
"Progressive hoarseness was present",
"Progressive hoarseness was also present. Extensive mucosal lesions were detected in the oral cavity",
"nasal swelling",
"progression of hoarseness",
"admitted 4 times due to respiratory distress. Finally she died from respiratory failure in one episode at 4 years old",... |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Dermatology | DERM | [
"Cutaneous lesions were also seen on abdomen",
"appearance of cutaneous lesions on the body"
] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Pregnancy | Pregnancy | [
"delivered by cesarean section without any insult",
"delivered by NVD who was term on birth",
"delivered by NVD without any insult"
] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Lymphatic-System | LYMPH | [] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Age-at-Presentation | Age (at case presentation) | [
"4 - year old",
"4 year - old",
"9 - month old"
] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Age-of-Onset | Age (of onset) | [
"6 months of age",
"7 months of age"
] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"confirmed the presence of Farber disease in this patient"
] |
6944811 | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | {'1 st case': 'This patient was a 4-year old girl, second child of related parents, delivered by cesarean section without any insult. This child developed wrist swelling at 6 months of age. Swelling of other joints were gradually added. On examination, swelling and limitation in range of motion was detected in PIP, MCP... | IEM-Treatment | IEM_Treatment | [
"Bone marrow transplantation was suggested as a treatment strategy for the patient"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Vitals-and-Hematology | Vitals_Hema | [
"His heart rate was 120 beats per minute and his blood pressure was 100/65 mmHg. His weight and height were 12.8 kg ( 1.5 SDS ) and 86 cm ( 2 SDS ), respectively",
"his body weight and length were 16.7 kg ( 0.5 SDS ) and 99.7 cm ( 1.5 SDS ), respectively"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Gastrointestinal-System | GI | [
"imperforate anus",
"tracheoesophageal fistula was not suspected clinically",
"anal atresia",
"abdomen was distended and discolored",
"bowel necrosis",
"peritonitis",
"peritonitis",
"occasional nausea and vomiting"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Patient-History | History | [
"A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score ) and 52.5 cm ( z -score, +1.4 SDS ), respectively. There ... |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Neurology | Neuro | [
"He was able to ascend stairs with the support of a hand grasp. He could stack 3 cubes, eat without assistance, and pronounce 10 words, meaning that the patient ’s developmental status was normal for his age",
"normal growth and development"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Laboratory-and-Imaging | Lab_Image | [
"echocardiography revealed a patent ductus arteriosus",
"Bilateral grade 3 vesicoureteral reflux ( VUR ) was revealed via voiding cystourethrography. Spine ultrasound revealed no vertebral anomalies, and tracheoesophageal fistula was not suspected clinically",
"Laboratory test results, including electrolyte lev... |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Cardiovascular-System | CVS | [
"A grade 2 systolic murmur was heard in the left upper sternal border and echocardiography revealed a patent ductus arteriosus",
"hypotensive"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Endocrinology | ENDO | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Genitourinary-System | GU | [
"normal male genitalia, with both testes palpable",
"Bilateral grade 3 vesicoureteral reflux ( VUR ) was revealed via voiding cystourethrography",
"renal anomalies",
"normal male genitalia",
"slightly decreased sodium level ( 132 mmol / L ) but normal potassium ( 4.8 mEq / L )",
"no abnormalities, such as... |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Respiratory-System | RESP | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Musculoskeletal-System | MSK | [
"postaxial polydactyly of the left foot",
"Spine ultrasound revealed no vertebral anomalies",
"limb abnormalities",
"postaxial polydactyly of the left foot"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Eyes-Ears-Nose-Throat | EENT | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Dermatology | DERM | [
"slight bronzing of the patient ’s skin after repeated surgeries",
"generalized hyperpigmentation",
"child 's hyperpigmentation was markedly exacerbated after exploratory laparotomy for the episode of peritonitis with sepsis",
"hyperpigmentation",
"generalized hyperpigmentation",
"generalized hyperpigment... |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Pregnancy | Pregnancy | [
"born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score ) and 52.5 cm ( z -score, +1.4 SDS ), respectively"
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Lymphatic-System | LYMPH | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Age-at-Presentation | Age (at case presentation) | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Age-of-Onset | Age (of onset) | [] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"This variant has been previously reported in association with CLAH ."
] |
7136505 | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | {'Case report': "A male child was born at a gestational age of 39 weeks with no history of antenatal or perinatal problems. Apgar scores were 9 points at one minute and 10 points at 5 minutes. His birth weight and height were 3,800 g ( z -score, +1 standard deviation score) and 52.5 cm ( z -score, +1.4 SDS), respective... | IEM-Treatment | IEM_Treatment | [
"Hydrocortisone ( 7.8 mg / m 2 /day ) and fludrocortisone ( 50 μg / day ) were started as therapy for primary adrenal insufficiency . The dose of hydrocortisone was gradually increased until the age of 24 months for sufficient ACTH suppression and levels of ACTH and cortisol were subsequently decreased to the optim... |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Vitals-and-Hematology | Vitals_Hema | [] |
7890005 | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | {'Case presentation': 'We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirme... | Gastrointestinal-System | GI | [
"chronic diarrhea",
"remission of diarrhea",
"chronic diarrhea",
"Three months later, diarrhea was disappeared",
"diarrhea recurred"
] |
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