serial-number
stringlengths
6
9
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
test-1301
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" ]
test-1302
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" ]
test-1303
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
[]
test-1304
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" ]
test-1305
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
[]
test-1306
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
[]
test-1307
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" ]
test-1308
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
[]
test-1309
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" ]
test-1310
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
[]
test-1311
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" ]
test-1312
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)
[]
test-1313
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" ]
test-1314
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
[]
test-1315
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" ]
test-1316
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
[]
test-1317
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" ]
test-1318
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 ...
test-1319
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...
test-1320
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
[]
test-1321
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
[]
test-1322
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
[]
test-1323
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
[]
test-1324
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
[]
test-1325
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
[]
test-1326
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
[]
test-1327
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
[]
test-1328
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
[]
test-1329
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" ]
test-1330
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" ]
test-1331
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 ." ]
test-1332
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 ." ]
test-1333
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
[]
test-1334
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
[]
test-1335
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" ]
test-1336
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
[]
test-1337
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...
test-1338
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
[]
test-1339
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
[]
test-1340
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...
test-1341
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
[]
test-1342
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" ]
test-1343
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" ]
test-1344
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
[]
test-1345
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
[]
test-1346
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
[]
test-1347
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" ]
test-1348
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)
[]
test-1349
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 ." ]
test-1350
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
[]
test-1351
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" ]
test-1352
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" ]
test-1353
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" ]
test-1354
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" ]
test-1355
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...
test-1356
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
[]
test-1357
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...
test-1358
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" ]
test-1359
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
[]
test-1360
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" ]
test-1361
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" ]
test-1362
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...
test-1363
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
[]
test-1364
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
[]
test-1365
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" ]
test-1366
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)
[]
test-1367
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" ]
test-1368
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
[]
test-1369
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
[]
test-1370
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" ]
test-1371
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...
test-1372
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" ]
test-1373
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...
test-1374
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" ]
test-1375
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
[]
test-1376
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
[]
test-1377
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
[]
test-1378
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" ]
test-1379
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" ]
test-1380
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" ]
test-1381
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
[]
test-1382
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
[]
test-1383
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" ]
test-1384
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)
[]
test-1385
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" ]
test-1386
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" ]
test-1387
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" ]
test-1388
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
[]
test-1389
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...
test-1390
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...
test-1391
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 ...
test-1392
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
[]
test-1393
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
[]
test-1394
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
[]
test-1395
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
[]
test-1396
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...
test-1397
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
[]
test-1398
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
[]
test-1399
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
[]
test-1400
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
[]