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 |
|---|---|---|---|---|---|
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Endocrinology | ENDO | [
". Her menstrual cycle was regular and she was menstruating one day after admission."
] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Genitourinary-System | GU | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Respiratory-System | RESP | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Musculoskeletal-System | MSK | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Eyes-Ears-Nose-Throat | EENT | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Dermatology | DERM | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Pregnancy | Pregnancy | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Lymphatic-System | LYMPH | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Age-at-Presentation | Age (at case presentation) | [
"a 24 year - old",
"24 year - old-"
] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Age-of-Onset | Age (of onset) | [] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"acute intermittent porphyria",
"The diagnosis of AIP was based on the presence of high PBG in the urine ( test was done at another center ) ."
] |
5633257 | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | {'Case presentation': 'We present a 24 year-old woman who developed acute intermittent porphyria five days after right hemi-colectomy. Her presentation included neuro-visceral and psychiatric manifestations, and severe hyponatremia. She received critical care symptomatic management including mechanical ventilation. The... | IEM-Treatment | IEM_Treatment | [
"high carbohydrate intake .",
"regime of IV hematin ( heme arginate ) 4 mg / Kg body weight / day for three days .",
"prophylactic IV hematin 4 mg / Kg body weight / day for three days"
] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Vitals-and-Hematology | Vitals_Hema | [
"polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 × 10 4; hematocrit : 53.1 %",
"height : 165 cm; weight : 79 kg; Body Mass Index : 29.0 kg / m²",
"polycythemia also improved to a Hb level of 15.2 g / dL.",
"height : 1.58 m; weight : 65 kg; body mass index : 23.9 kg / m²"
] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Gastrointestinal-System | GI | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Patient-History | History | [
"A 41 year old man was followed at the local clinic for polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 × 10 4; hematocrit : 53.1 % ) and hypertension",
"A 41 year old man was referred to Kobe City Medical Center West Hospital, Kobe City, Japan, because of 2 years of infertility",
"female offspri... |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Neurology | Neuro | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Laboratory-and-Imaging | Lab_Image | [
"polycythemia ( hemoglobin : 18.0 g / dL; red blood count : 627 × 10 4; hematocrit : 53.1 % )",
"An abdominal CT scan for the examination of these conditions revealed the enlargement of the bilateral adrenal glands",
"The laboratory tests revealed an extremely high level of ACTH ( 316.4 pg / mL ) and a relativ... |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Cardiovascular-System | CVS | [
"hypertension"
] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Endocrinology | ENDO | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Genitourinary-System | GU | [
"Bilateral testicular tumors were identified in a scrotal ultrasound echo scan",
"both testes had become slightly atrophied ( right : 14 mL; left : 12 mL ) ( performed with a Prader orchidmeter ) and no induration was palpated",
"serum markers for testicular tumors were within the normal range and the testicula... |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Respiratory-System | RESP | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Musculoskeletal-System | MSK | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Eyes-Ears-Nose-Throat | EENT | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Dermatology | DERM | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Pregnancy | Pregnancy | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Lymphatic-System | LYMPH | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Age-at-Presentation | Age (at case presentation) | [
"41 year old"
] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Age-of-Onset | Age (of onset) | [] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility , accompanied by congenital adrenal hyperplasia ( CAH )"
] |
5768970 | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | {'Cases': 'Testicular adrenal rest tumor ( TART ) is one of the possible causes of male infertility, accompanied by congenital adrenal hyperplasia ( CAH ). Here are reported two cases of TART s that were referred to Kobe City Medical Center West Hospital for the treatment of infertility and testicular tumors.', 'Case 2... | IEM-Treatment | IEM_Treatment | [
"After 6 months of low‐dose , daily oral glucocorticoid therapy ( 0.5 mg / d ) , the serum FSH , LH , testosterone , and estradiol levels returned to normal levels ( 9.2 IU / mL , 1.8 IU / mL , 0.8 ng / mL , and < 10 pg / mL , respectively ) . The polycythemia also improved to a Hb level of 15.2 g / dL.",
"a low‐... |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Vitals-and-Hematology | Vitals_Hema | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Gastrointestinal-System | GI | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Patient-History | History | [
"In 1989, a 21 - year - old male experienced visual loss after diving from a diving board",
"Twenty years later, in April 2009, he presented again because of recent visual loss in the left eye"
] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Neurology | Neuro | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Laboratory-and-Imaging | Lab_Image | [
"Three biopsies from the flexural skin of the axilla and the neck did not reveal PXE related changes",
"Analysis showed that our patient was homozygous for the R1141X - mutation in the ABCC6 - gene"
] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Cardiovascular-System | CVS | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Endocrinology | ENDO | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Genitourinary-System | GU | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Respiratory-System | RESP | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Musculoskeletal-System | MSK | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Eyes-Ears-Nose-Throat | EENT | [
"visual loss after diving from a diving board",
"bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch ’s membrane were identified. The macula was not affected and vision returned to normal in both eyes",
"recent visual loss in the left eye",
"Visual acu... |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Dermatology | DERM | [
"no typical plucked - chicken appearance, no papules, macules or other skin lesions. Three biopsies from the flexural skin of the axilla and the neck did not reveal PXE related changes"
] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Pregnancy | Pregnancy | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Lymphatic-System | LYMPH | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Age-at-Presentation | Age (at case presentation) | [
"21 - year - old"
] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Age-of-Onset | Age (of onset) | [] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"PXE"
] |
5015608 | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | {'Case report': 'In 1989, a 21-year-old male experienced visual loss after diving from a diving board. Ocular examination was performed the same day, and revealed bilateral subretinal hemorrhages and angioid streaks. After clearing of the hemorrhages, more breaks of Bruch’s membrane were identified. The macula was not ... | IEM-Treatment | IEM_Treatment | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Vitals-and-Hematology | Vitals_Hema | [
"height and weight were 86 cm and 12.5 kg, respectively ( both were below the 3rd percentile, according to China 's 1995 urban 0–18 year - old male height percentiles scale",
"height and weight were still below the 3rd percentile, at 116 cm and 20.1 kg, respectively",
"his height and weight reached 121 cm and 2... |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Gastrointestinal-System | GI | [
"showed a preference for carbohydrate intake from infancy, with a clear aversion to animal proteins and was prone to vomiting",
"short stature and excessive thinness"
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Patient-History | History | [
"The patient was born at 36 +4 weeks ’ gestation with a birth weight of 2500 g. Three days after birth, he was hospitalized for several days due to transient hypoglycemia. His developmental milestones were unremarkable before 1 year of age. Following this, his developmental milestones became delayed, for example, t... |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Neurology | Neuro | [
"developmental milestones became delayed",
"began to walk at 1 year and 6 months and his walk was slower than normal and clumsy",
"A neurologic examination focusing on the motor and sensory nervous system and cerebellar function produced unremarkable findings",
"a single episode of generalized tonic seizure",... |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Laboratory-and-Imaging | Lab_Image | [
"Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.",
"Laboratory tests revealed retardation of bone age ( equivalent to a 1 year old ) and mildly elevated total bilirubin ( 29.4 μmol / L, normal range : 2–24 μmol / L ), direct bilirubin ( 10.4 μmol / L... |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Cardiovascular-System | CVS | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Endocrinology | ENDO | [
"retardation of bone age ( equivalent to a 1 year old )",
"Blood glucose was slightly lower than normal ( 3.52 mmol / L, normal range : 3.9–6",
"A growth hormone excitement test revealed low levels of growth hormone ( 0 minute : 0.76 ng / mL; 30 minutes : 4.5 ng / mL; 60 minutes : 6.3 ng / mL; 90 minutes : 4.1 ... |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Genitourinary-System | GU | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Respiratory-System | RESP | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Musculoskeletal-System | MSK | [
"muscle strength of the low extremities was grade 4 ( Oxford Scale )",
"His creatine kinase ( 564.4 IU / L, normal range : 55–190 IU / L ) and blood ammonia levels ( 62.3 mmol / L, normal range : 9–30 mmol / L ) were slightly elevated"
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Eyes-Ears-Nose-Throat | EENT | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Dermatology | DERM | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Pregnancy | Pregnancy | [
"born at 36 +4 weeks ’ gestation with a birth weight of 2500 g. Three days after birth, he was hospitalized for several days due to transient hypoglycemia."
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Lymphatic-System | LYMPH | [] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Age-at-Presentation | Age (at case presentation) | [
"10 years old"
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Age-of-Onset | Age (of onset) | [
"1 year of age"
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"argininemia with homozygous mutation ( c.32T > C ) of the ARG1 gene",
"argininemia"
] |
5839826 | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | {'Diagnoses:': 'Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old. Blood tests showed mildly elevated blood ammonia and creatine kinase, and persistently elevated bilirubin.', 'Case report': "The patient was born at 36 +4 weeks’ gestation with a b... | IEM-Treatment | IEM_Treatment | [
"Following the diagnosis , we recommended that the patient begins a low - protein diet ( 0.8 g / kg / day ) to decrease his blood arginine levels , as well as start taking citrulline ( 150–200 mg / kg / day ) ."
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Vitals-and-Hematology | Vitals_Hema | [
"The patient 's height and body weight were 85.0 cm and 11.6 kg, respectively. Her weight - for - height Z - score ( −0.3 ) was in the 15th–50th percentile of the World Health Organization ( WHO ) growth standards",
"Her body weight continuously declined from 11.6 kg to 10.5 kg, and her weight - for - height Z - ... |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Gastrointestinal-System | GI | [
"swallowing difficulty",
"symptoms of aspiration while swallowing and prolonged feeding time",
"irregularly ingested a soft and blended diet",
"She had difficulty in eating and she showed signs of aspiration ( e.g., coughing, gagging )"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Patient-History | History | [
"A 22 - month - old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Neurology | Neuro | [
"chief complaints of spasticity and swallowing difficulty as well as difficulty with head control.",
"She was able to stand while holding on to something at 8 months of age, which suggested normal development. However, developmental arrest occurred at 13 months of age. Spasticity and genu recurvatum were observed... |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Laboratory-and-Imaging | Lab_Image | [
"Brain magnetic resonance imaging scans obtained at 15 months of age did not show delayed myelination or abnormal enhancement",
"The patient underwent hexosaminidase assay in white blood cells, which showed increased hexosaminidase A ( % ) and decreased total hexosaminidase. The total hexosaminidase A & B and hex... |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Cardiovascular-System | CVS | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Endocrinology | ENDO | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Genitourinary-System | GU | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Respiratory-System | RESP | [
"symptoms of aspiration while swallowing",
"signs of aspiration ( e.g., coughing, gagging )"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Musculoskeletal-System | MSK | [
"genu recurvatum"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Eyes-Ears-Nose-Throat | EENT | [
"the patient did not show cherry red spot on fundoscopy"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Dermatology | DERM | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Pregnancy | Pregnancy | [
"born at full term through normal vaginal delivery"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Lymphatic-System | LYMPH | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Age-at-Presentation | Age (at case presentation) | [
"22 - month - old"
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Age-of-Onset | Age (of onset) | [] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"Sandhoff disease",
"the patient was diagnosed with Sandhoff disease ."
] |
5698679 | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | {'CASE REPORT': "A 22-month-old girl diagnosed with Sandhoff disease was referred to our hospital with chief complaints of spasticity and swallowing difficulty as well as difficulty with head control. She was born at full term through normal vaginal delivery. She was able to stand while holding on to something at 8 mon... | IEM-Treatment | IEM_Treatment | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Vitals-and-Hematology | Vitals_Hema | [
"vital signs on admission showed uncontrolled hypertension ( BP = 148/118 mm Hg ) and tachycardia ( HR = 120 bpm )."
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Gastrointestinal-System | GI | [
"history of recurrent abdominal pain",
"nausea, vomiting, worsening of abdominal pain, and constipation",
"unable to eat",
"abdominal pain persisted",
"abdominal pain resolved in less than 24 h"
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Patient-History | History | [
"This is a 20 - year - old female with a 6 - month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days"
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Neurology | Neuro | [
"two generalized tonic – clonic seizures",
"she continued to be lethargic, and a stat EEG was requested, that showed LPDs + F over the right temporoparietal region",
"She became profoundly lethargic and assumed a fetal position in bed. On neurological examination, there were left lower extremity clonus and a le... |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Laboratory-and-Imaging | Lab_Image | [
"Head CT was normal, cerebral spinal fluid ( CSF ) was unremarkable, and comprehensive CSF profiles were negative, including PCR for Herpes Simplex virus, Varicella Zoster virus, Lyme disease, and Cryptococcus. The brain MRI showed PRES",
"Urine, then serum and fecal porphyrins were requested. The results were as... |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Cardiovascular-System | CVS | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Endocrinology | ENDO | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Genitourinary-System | GU | [
"acute pyelonephritis,"
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Respiratory-System | RESP | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Musculoskeletal-System | MSK | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Eyes-Ears-Nose-Throat | EENT | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Dermatology | DERM | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Pregnancy | Pregnancy | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Lymphatic-System | LYMPH | [] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Age-at-Presentation | Age (at case presentation) | [
"a 20 - year - old"
] |
5021915 | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | {'Case presentation': "This is a 20-year-old female with a 6-month history of recurrent abdominal pain. She underwent cholecystectomy 3 months prior to admission but had no relief of her symptoms. She was admitted with acute pyelonephritis, nausea, vomiting, worsening of abdominal pain, and constipation for three days.... | Age-of-Onset | Age (of onset) | [] |
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