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values | context stringclasses 138
values | role stringclasses 18
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values | raw-initial-ground-truth listlengths 0 18 |
|---|---|---|---|---|---|
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Laboratory-and-Imaging | Lab_Image | [
"low levels of androstenedione",
"Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Cardiovascular-System | CVS | [
"patent foramen ovale"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Endocrinology | ENDO | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Genitourinary-System | GU | [
"cliteromegaly"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Respiratory-System | RESP | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Musculoskeletal-System | MSK | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Eyes-Ears-Nose-Throat | EENT | [
"left - sided supernumerary nostril",
"Paranasal sinus computed tomography study revealed that her left - sided accessory nostril opened to the left nasal cavity"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Dermatology | DERM | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Pregnancy | Pregnancy | [
"She was born 2300 g prematurely on her 37 th gestational week from a 34 - year - old mother with a history of five pregnancies, two still births and two abortions"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Lymphatic-System | LYMPH | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Age-at-Presentation | Age (at case presentation) | [
"4 - year - old"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Age-of-Onset | Age (of onset) | [] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"congenital adrenal hyperplasia"
] |
4293843 | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | {'CASE REPORT': 'A 4-year-old female patient with a nasal anomaly was admitted to our outpatient clinic. She was born 2300 g prematurely on her 37 th gestational week from a 34-year-old mother with a history of five pregnancies, two still births and two abortions. On her physical examination, she had a left-sided super... | IEM-Treatment | IEM_Treatment | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Vitals-and-Hematology | Vitals_Hema | [
"white blood cell ( WBC ) count was normal"
] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Gastrointestinal-System | GI | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Patient-History | History | [
"A 3 - year - old boy was admitted to our emergency department because of convulsions and unconsciousness"
] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Neurology | Neuro | [
"convulsions and unconsciousness",
"coma and had seizures",
"Electroencephalography showed focal epileptic activity",
"T2 - weighted and fluid attenuated inversion recovery ( FLAIR ) images revealed increased signal intensities in the bilateral frontal and parietooccippital cortical - subcortical regions and ... |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Laboratory-and-Imaging | Lab_Image | [
"Laboratory tests were normal except for hypoglycemia. His plasma glucose level was 20 mg / dl and white blood cell ( WBC ) count was normal. No evidence of serum electrolyte abnormalities was detected. Specific infectious agents were not identified by comprehensive studies",
"T2 - weighted and fluid attenuated i... |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Cardiovascular-System | CVS | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Endocrinology | ENDO | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Genitourinary-System | GU | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Respiratory-System | RESP | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Musculoskeletal-System | MSK | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Eyes-Ears-Nose-Throat | EENT | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Dermatology | DERM | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Pregnancy | Pregnancy | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Lymphatic-System | LYMPH | [] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Age-at-Presentation | Age (at case presentation) | [
"3 - year - old"
] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Age-of-Onset | Age (of onset) | [
"birth"
] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"He had been diagnosed as 21 - hydroxylase deficiency at birth ."
] |
4564473 | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | {'Case Report': 'A 3-year-old boy was admitted to our emergency department because of convulsions and unconsciousness. He had been diagnosed as 21-hydroxylase deficiency at birth. He had been taking oral steroid (hydrocortisone) replacement therapy since then. His parents had stopped steroid therapy without the knowled... | IEM-Treatment | IEM_Treatment | [
"He had been taking oral steroid ( hydrocortisone ) replacement therapy since then ."
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Vitals-and-Hematology | Vitals_Hema | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Gastrointestinal-System | GI | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Patient-History | History | [
"A 36 years man presented with severe obstructive LUTS"
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Neurology | Neuro | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Laboratory-and-Imaging | Lab_Image | [
"Prostate specific antigen ( PSA ) was 0.393 ng / mL",
"X - ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fig. 1 ), computerized tomography scan of pelvis showed extensive and well calcified areas into the prostatic parenchyma",
"Biochemical analysis of urine showed the presence... |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Cardiovascular-System | CVS | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Endocrinology | ENDO | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Genitourinary-System | GU | [
"severe obstructive LUTS",
"prostate was hard and nodular",
"Flow was a Q max of 2 mL / s for a voided volume of 130 mL and post void residual urine volume of 380 mL.",
"Prostate specific antigen ( PSA ) was 0.393 ng / mL",
"- ray of pelvis showed punctate calcification in the region of pubic symphysis ( Fi... |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Respiratory-System | RESP | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Musculoskeletal-System | MSK | [
"chronic low back ache. He was short statured with kyphotic spine"
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Eyes-Ears-Nose-Throat | EENT | [
"Osler 's sign ( bluish discolouration of sclera ) was present",
"Osler 's sign"
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Dermatology | DERM | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Pregnancy | Pregnancy | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Lymphatic-System | LYMPH | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Age-at-Presentation | Age (at case presentation) | [
"36 years"
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Age-of-Onset | Age (of onset) | [] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"These findings confirmed the diagnosis of alkaptonuria ."
] |
5730711 | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | {'Case': "A 36 years man presented with severe obstructive LUTS. On digital rectal examination prostate was hard and nodular. Flow was a Q max of 2 mL/s for a voided volume of 130 mL and post void residual urine volume of 380 mL. Prostate specific antigen (PSA) was 0.393 ng/mL, while X-ray of pelvis showed punctate cal... | IEM-Treatment | IEM_Treatment | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Vitals-and-Hematology | Vitals_Hema | [
"short stature ( 145 cm"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Gastrointestinal-System | GI | [
"mild hepatomegaly",
"mild hepatosplenomegaly"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Patient-History | History | [
"A 29 - year - old male patient presented with a 6 - year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk",
"diagnosed as Type 1 diabetic 6 years back and was receiving insulin since then"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Neurology | Neuro | [
"nerve conduction studies were normal"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Laboratory-and-Imaging | Lab_Image | [
"Skin biopsy revealed marked fibrosis of the dermis and subcutaneous tissue. Dermal appendages pushed upward, and a perivascular infiltrate of lymphocytes and histiocytes with foamy cytoplasm were seen intermingled with the bundles of dermal collagen. Septal panniculitis with plasma cell infiltration was noted. His... |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Cardiovascular-System | CVS | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Endocrinology | ENDO | [
"as Type 1 diabetic",
"Axillary and pubic hairs were scanty. Other secondary sexual characters such as facial hair were sparse and voice was normal",
"fasting blood glucose level of 250 mg / dL and random blood sugar of 338 mg / dL with glycated hemoglobin 10.2 %",
"serum testosterone, follicle stimulating ho... |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Genitourinary-System | GU | [
"hypospadias, micropenis, scrotal swelling",
"small penis, normal echotexture, no calcific plaques, and small left testis",
"Marked thickening of the scrotum was seen"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Respiratory-System | RESP | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Musculoskeletal-System | MSK | [
"short stature"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Eyes-Ears-Nose-Throat | EENT | [
"voice was normal",
"Ophthalmologic and auditory examinations were normal"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Dermatology | DERM | [
"asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking",
"large ill - defined hyperpigmented indurated plaques extending symmetrically from mid - truncal area to both thighs characteristicall... |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Pregnancy | Pregnancy | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Lymphatic-System | LYMPH | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Age-at-Presentation | Age (at case presentation) | [
"A 29 - year - old"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Age-of-Onset | Age (of onset) | [] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"H syndrome"
] |
5903050 | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | {'Case Report': 'A 29-year-old male patient presented with a 6-year history of asymptomatic progressive cutaneous sclerosis, hyperpigmentation, and hypertrichosis over both thighs and trunk. He complained of skin tightness around the abdomen while walking. He wandered to and fro between different specialists but withou... | IEM-Treatment | IEM_Treatment | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Vitals-and-Hematology | Vitals_Hema | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Gastrointestinal-System | GI | [
"chronic diarrhea, and intellectual disability, were not found"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Patient-History | History | [
"A 63 - year - old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A - C ) was referred to our hospital due to an abdominal pulsatile mass",
"He had a history of hypertension for 5 years and a smoking habit ( 10 cigarettes / day",
"He was born to consanguineous parents ( se... |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Neurology | Neuro | [
"did not show any neuropathyintellectual disability, were not found"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Laboratory-and-Imaging | Lab_Image | [
"Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm",
"Coronary angiography revealed mild to moderate coronary atherosclerotic lesions",
"modestly elevated LDL cholesterol level ( 166 mg / dL )",
"homozygous mutations in the cytochrome P450 subfamily 27 A1 ( CYP... |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Cardiovascular-System | CVS | [
"abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm",
"history of hypertension for 5 years",
"Coronary angiography revealed mild to moderate coronary atherosclerotic lesions",
"AAA"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Endocrinology | ENDO | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Genitourinary-System | GU | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Respiratory-System | RESP | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Musculoskeletal-System | MSK | [
"prominent Achilles tendon thickness"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Eyes-Ears-Nose-Throat | EENT | [
"juvenile cataract, chronic diarrhea, and intellectual disability, were not found"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Dermatology | DERM | [
"plantar xanthomas"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Pregnancy | Pregnancy | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Lymphatic-System | LYMPH | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Age-at-Presentation | Age (at case presentation) | [
"63 - year - old"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Age-of-Onset | Age (of onset) | [] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"CTX"
] |
5938503 | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | {'Case Report': 'A 63-year-old man presenting with prominent Achilles tendon thickness and plantar xanthomas ( Fig. 1A-C ) was referred to our hospital due to an abdominal pulsatile mass. Computed tomography revealed the existence of a saccular type AAA, the diameter of which was 52 mm ( Fig. 1D ). He had a history of ... | IEM-Treatment | IEM_Treatment | [
"Atorvastatin"
] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Vitals-and-Hematology | Vitals_Hema | [
"118 cm tall"
] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Gastrointestinal-System | GI | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Patient-History | History | [
"The case was a 65 - year - old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm",
"previously undergone T7 – T9 laminectomy due to thoracic myelopathy at another hospital at the age of 24",
"At the age of 34, she underwen... |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Neurology | Neuro | [
"progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm",
"cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level",
"difficulty in walking",
"gait disturbance due to thoracic myelopathy",
"weakness of the upper ext... |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Laboratory-and-Imaging | Lab_Image | [
"Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction",
"Plain radiograph showed marked kyphosis of the thoracic ... |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Cardiovascular-System | CVS | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Endocrinology | ENDO | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Genitourinary-System | GU | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Respiratory-System | RESP | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Musculoskeletal-System | MSK | [
"difficulty walking, neck pain",
"cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. Ankylosis of the whole spine below the C2 vertebra was also noted with preserved mobility only at the craniovertebral junction",
"difficulty in walking",
"gait disturbance due to... |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Eyes-Ears-Nose-Throat | EENT | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Dermatology | DERM | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Pregnancy | Pregnancy | [] |
5018076 | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | {'Presentation of case': 'The case was a 65-year-old female with VDRR who reported progressive weakness of the upper extremities, difficulty walking, neck pain, and numbness in the left arm. Imaging studies demonstrated cord compression with ectopic ossification at the rim of the occipital bone and OPLL at C1 level. An... | Lymphatic-System | LYMPH | [] |
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