Split (1)

test · 2.48k rows

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
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Respiratory-System	RESP	[]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Musculoskeletal-System	MSK	[]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Eyes-Ears-Nose-Throat	EENT	[ "lost some of her eyelashes, which has made her eyes prone to irritation from small particles of dust", "teeth have progressively stained brownish - red" ]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Dermatology	DERM	[ "easy skin blistering and scarring", "multiple blistering and scarring on areas of the skin exposed to the sun and hypertrichosis on the back", "severe photosensitive skin damage that had started in early childhood has led to disfiguring deformity of the face and hands.", "scarring of her skin at sun - expose...
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Pregnancy	Pregnancy	[ "born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively" ]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Lymphatic-System	LYMPH	[]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Age-at-Presentation	Age (at case presentation)	[ "14 years" ]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Age-of-Onset	Age (of onset)	[ "3 - week - old" ]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "These results confirmed a diagnosis of CEP" ]
3214312	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	{'Case Report': 'At the age of 6 months, the patient was referred to our hospital for investigation of episodes of red urine. She was born at term after an uneventful pregnancy and delivery. Her birth weight and length were 2 900 g and 51 cm, respectively. As a 3-week-old neonate, she received a blood transfusion for, ...	IEM-Treatment	IEM_Treatment	[ "6 months ," ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Vitals-and-Hematology	Vitals_Hema	[ "His vital signs were stable, with a blood pressure of 150/80 mmHg, pulse rate of 84 / min, respiratory rate of 24 / min, and body temperature of 36 â„ƒ." ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Gastrointestinal-System	GI	[ "become nauseated, and vomited", "nauseated, and developed severe vomiting.", "recurrent abdominal pain", "no evidence of gastrointestinal bleeding", "no evidence of chronic liver disease" ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Patient-History	History	[ "A 59 - yr - old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, and vomited. T...
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Neurology	Neuro	[ "progressive lethargy and confusion since the early morning.", "fatigue over the previous 3 months.", "failed to arise at his normal time and exhibited inappropriate behavior and drowsiness.", "periodic episodes of convulsions", "not experienced any seizures in adulthood", "was in a semi - coma; his Glasg...
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Laboratory-and-Imaging	Lab_Image	[ "Laboratory investigations showed that he had hyperammonemia ( 143.8 mM ), elevated liver enzymes ( alanine aminotransferase, 179 U / L; aspartate aminotransferase, 91 U / L ), a total bilirubin level of 1.91 mg / dL, and a blood glucose level of 106 mg / dL. His blood urea nitrogen and serum creatinine levels were...
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Cardiovascular-System	CVS	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Endocrinology	ENDO	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Genitourinary-System	GU	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Respiratory-System	RESP	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Musculoskeletal-System	MSK	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Eyes-Ears-Nose-Throat	EENT	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Dermatology	DERM	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Pregnancy	Pregnancy	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Lymphatic-System	LYMPH	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Age-at-Presentation	Age (at case presentation)	[ "59 - yr - old" ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Age-of-Onset	Age (of onset)	[]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "late - onset ornithine carbamoyltransferase deficiency" ]
3342550	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	{'CASE DESCRIPTION': "A 59-yr-old man was admitted to our hospital because he had exhibited progressive lethargy and confusion since the early morning. He had often complained of fatigue over the previous 3 months. Three days prior to presentation, he had eaten a large amount of dog meat at a party, become nauseated, a...	IEM-Treatment	IEM_Treatment	[ "arginine ( 3 g ) and sodium benzoate ( 3 g ) were administered via nasogastric tube every 4 - 6 hr . Dextrose solution ( 10 % ) was supplied intravenously , and a protein - free formula was supplied via a feeding tube", "He continued to receive sodium benzoate ( 3 g ) and arginine ( 3 g ) three times daily . The...
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Vitals-and-Hematology	Vitals_Hema	[ "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "bleeding gums." ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Gastrointestinal-System	GI	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Patient-History	History	[ "An 18 - year - old boy reported to the department of Periodontology and Implant Dentistry, Bharati Vidyapeeth University Dental College and Hospital, Navi - Mumbai for the treatment of generalized mobility of teeth and bleeding gums. Family history was important and contributory. There was a history of consanguine...
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Neurology	Neuro	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Laboratory-and-Imaging	Lab_Image	[ "Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds", "Complete blood count, serum calcium and alkaline phosphatase levels were done for both patients and were found to be within normal limits", "Orthopantomograph showed severe horizontal bone loss.." ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Cardiovascular-System	CVS	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Endocrinology	ENDO	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Genitourinary-System	GU	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Respiratory-System	RESP	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Musculoskeletal-System	MSK	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Eyes-Ears-Nose-Throat	EENT	[ "more teeth present", "generalized mobility of teeth and bleeding gums.", "patient had lost most of his permanent teeth and the remaining teeth showed grade II mobility." ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Dermatology	DERM	[ "considerable hyperkeratosis of palms and soles", "marked palmoplantar hyperkeratosis", "Scaly skin lesions began to appear by third year of age, later fissures appeared on palms and soles. Intense itching was noted and skin lesions went on to involve fingers, knees and elbows.", "bilateral hyperkeratosis of ...
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Pregnancy	Pregnancy	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Lymphatic-System	LYMPH	[]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Age-at-Presentation	Age (at case presentation)	[ "18 - year - old" ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Age-of-Onset	Age (of onset)	[ "age of 2 - 3 years ." ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "Papillon - Lefevre syndrome" ]
3118082	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	{'Case 2': 'This patient too showed considerable hyperkeratosis of palms and soles. Intraoral examination showed more teeth present. Orthopantomograph showed moderate horizontal bone loss and erupting permanent tooth buds. All teeth had deep periodontal pockets and grade II mobility. Complete blood count, serum calcium...	IEM-Treatment	IEM_Treatment	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Vitals-and-Hematology	Vitals_Hema	[ "height of 158 cm ( â€“ 1 SD ), weight of 85 kg ( > 2 SD ), body mass index ( BMI ) of 34.13 kg / m 2 ( greater than the 97th centile ) and blood pressure of 150/80 mmHg." ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Gastrointestinal-System	GI	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Patient-History	History	[ "A 15 - yr - old male patient was referred to our department with a one - year history of gradual worsening of tremors.", "healthy, second - degree consanguineous parents", "He was diagnosed, at 40 d old, with salt - wasting 21 - hydroxylase deficiency CAH based on acute dehydration, salt loss syndrome", "hyp...
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Neurology	Neuro	[ "Neurological examination objectified postural and action tremor in upper limbs with static kinetic cerebellar syndrome more pronounced on the left, tetra pyramidal reflex syndrome and moderate mental decline", "Brain MRI showed bilateral periventricular white matter hyperintensity on T2 - weighted and fluid - at...
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Laboratory-and-Imaging	Lab_Image	[ "17 - OH progesterone level of 215 ng / ml,", "Detailed investigations ( renal Doppler ultrasound, adrenal CT scan, urinary metanephrine, 11 - Deoxycortisol, plasma renin activity, aldosterone levels and cortisolemia ) failed to detect any cause for secondary hypertension, and a diagnosis of essential hypertensio...
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Cardiovascular-System	CVS	[ "hypertension" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Endocrinology	ENDO	[ "salt - wasting", "acute dehydration, salt loss syndrome", "Two adrenal crises occurred at one and nine years of age", "Autoantibodies to thyroid peroxidase and thyroglobulin as well as antinuclear antibodies were negative" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Genitourinary-System	GU	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Respiratory-System	RESP	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Musculoskeletal-System	MSK	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Eyes-Ears-Nose-Throat	EENT	[ "ophthalmologic were normal" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Dermatology	DERM	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Pregnancy	Pregnancy	[ "He was born at term, weighing 2,900 g," ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Lymphatic-System	LYMPH	[]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Age-at-Presentation	Age (at case presentation)	[ "15 - yr - old" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Age-of-Onset	Age (of onset)	[ "40 d old" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "with salt - wasting 21 - hydroxylase deficiency CAH" ]
3687627	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	{'Case Report': 'A 15-yr-old male patient was referred to our department with a one-year history of gradual worsening of tremors. He was born at term, weighing 2,900 g, to healthy, second-degree consanguineous parents. He was diagnosed, at 40 d old, with salt-wasting 21-hydroxylase deficiency CAH based on acute dehydra...	IEM-Treatment	IEM_Treatment	[ "hydrocortisone , fludrocortisone and salt" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Vitals-and-Hematology	Vitals_Hema	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Gastrointestinal-System	GI	[ "vomiting and diarrhea" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Patient-History	History	[ "A 33 - year - old G2P1 woman presented to our obstetric unit at 17 weeks ' gestation for antenatal care of her second pregnancy", "Upon reevaluation of family history, however, the parents revealed that their 27 - month - old first baby had been diagnosed with CLAH. The first baby was delivered vaginally at 36 +...
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Neurology	Neuro	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Laboratory-and-Imaging	Lab_Image	[ "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "karyotype by amniocentesis was 46,XX", "Level II ultrasonography after 21 weeks ' ges...
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Cardiovascular-System	CVS	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Endocrinology	ENDO	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Genitourinary-System	GU	[ "normal female external genitalia" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Respiratory-System	RESP	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Musculoskeletal-System	MSK	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Eyes-Ears-Nose-Throat	EENT	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Dermatology	DERM	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Pregnancy	Pregnancy	[ "G2P1", "17 weeks ' gestation", "second pregnancy", "Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median ( MoM ) with low alpha - fetoprotein ( AFP ) and human chorionic gonadotropin ( hCG ) level, 0.6 MoM and 0.52 MoM, respectively", "Level II ultrasonography afte...
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Lymphatic-System	LYMPH	[]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Age-at-Presentation	Age (at case presentation)	[ "33 - year - old" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Age-of-Onset	Age (of onset)	[ "Four months after birth" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "CLAH" ]
3220249	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	{'CASE REPORT': "A 33-year-old G2P1 woman presented to our obstetric unit at 17 weeks' gestation for antenatal care of her second pregnancy. Maternal serum screening demonstrated a very low estriol level of 0.06 multiples of the median (MoM) with low alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) level,...	IEM-Treatment	IEM_Treatment	[ "treatment of mineralocorticoid and hydrocortisone ." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Vitals-and-Hematology	Vitals_Hema	[ "Her height was 110 cm ( 10 - 25th percentile ), weight 23 kg ( 75 - 90th percentile ).", "Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5 th percentiles. Her blood pressure was 60/40 mmHg, respiratory rate was 39 / min, pulse rate was 112 / min and body...
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Gastrointestinal-System	GI	[ "poor weight gain", "without history of vomiting or diarrhea" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Patient-History	History	[ "Orchiectomy", "A 28 - day - old phenotypic female infant was admitted to pediatric endocrinology clinic of Al - Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy. She was a full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length ...
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Neurology	Neuro	[ "lethargy", "lethargic", "lethargic", "depressed fontanele" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Laboratory-and-Imaging	Lab_Image	[ "Ultrasonographic examination revealed small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries and adrenal glands had normal sizes", "normal laboratory results except for 17 OHP which was lower during the period", "Renal Doppler ultrasonography and scan was performed which was normal", "Ultrasonography r...
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Cardiovascular-System	CVS	[ "high blood pressure", "mild dehydration and decreased skin turgor." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Endocrinology	ENDO	[ "adrenal glands had normal sizes", "decreased cortisol level and increased ACTH level", "adrenal insufficiency" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Genitourinary-System	GU	[ "small hypoplastic uterus ( 6 * 7 * 3 ml ) or atretic ovaries", "hyponatremia, hyperkalemia", "testicles in the abdominal cavity and uterus was not detected in pelvis", "External genitalia seemed normal female type with no ambiguity" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Respiratory-System	RESP	[]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Musculoskeletal-System	MSK	[]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Eyes-Ears-Nose-Throat	EENT	[ "mild hyperpigmentation, including oral cavity." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Dermatology	DERM	[ "no hyperpigmentation", "decreased skin turgor.", "mild hyperpigmentation, including oral cavity." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Pregnancy	Pregnancy	[ "full - term infant with a birth weight of 3250 gr ( 50 th percentile ), length of 51 cm ( 50 th percentile ) and head circumference of 34 cm ( 50 th percentile).The patient had no perinatal problem." ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Lymphatic-System	LYMPH	[]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Age-at-Presentation	Age (at case presentation)	[ "28 - day - old" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Age-of-Onset	Age (of onset)	[ "28 - day - old" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	Confirmed-Diagnosis-IEM	Confirmed_Diagnosis(IEM)	[ "lipoid CAH" ]
3415193	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	{'Radiological findings': 'Ultrasonographic examination revealed small hypoplastic uterus (673 ml) or atretic ovaries and adrenal glands had normal sizes. Clinical Course and Follow-up First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased ...	IEM-Treatment	IEM_Treatment	[ "replacement therapy with standard doses of glucocorticoid ( hydrocortisone ) and mineralocorticoid ( fludrocortisone ) and sodium chloride was initiated . After replacement therapy , electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition...

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