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|---|---|---|---|---|---|---|
test-301 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | Pregnancy | Pregnancy | [] |
test-302 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | Lymphatic-System | LYMPH | [] |
test-303 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | Age-at-Presentation | Age (at case presentation) | [
"37 - year - old"
] |
test-304 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | Age-of-Onset | Age (of onset) | [] |
test-305 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"The final diagnosis of MELAS syndrome was confirmed by genetic analysis ."
] |
test-306 | 5721577 | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | {'Case report': "The patient was a 37-year-old female, of 157 cm in height and 45 kg in weight. She was transferred to our department from a local hospital due to psychiatric features (both agitated behavior and auditory hallucinations), alexia and apraxia that had begun 10 days ago, followed by disorientation and gene... | IEM-Treatment | IEM_Treatment | [
"L - arginine , phenobarbital , co - enzyme Q and levothyroxine substitution therapy ."
] |
test-307 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Vitals-and-Hematology | Vitals_Hema | [
"A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits"
] |
test-308 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Gastrointestinal-System | GI | [] |
test-309 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Patient-History | History | [
"A 7 - month - old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play - related problem. The owners ’ complaints were that the cat had never used the litter tray, and it did not know how to play",
"After 3 months, the cat was referred to the neurolog... |
test-310 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Neurology | Neuro | [
"house soiling and a play - related problem.",
"did not know how to play.",
"the cat did not understand the body language of other cats and commonly crashed into other cats or people. It also ‘ tried to bite, catch and scratch the air ’ when playing. It did not find balls or other toys when the owners threw the... |
test-311 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Laboratory-and-Imaging | Lab_Image | [
"A complete blood count and a complete biochemistry panel were performed, and all of the results were within normal limits. The feline immunodeficiency virus / feline leukaemia virus test was negative.",
"A thorax radiograph, abdominal ultrasound, brain magnetic resonance imaging ( MRI; 0.2 T ) and cerebrospinal ... |
test-312 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Cardiovascular-System | CVS | [] |
test-313 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Endocrinology | ENDO | [] |
test-314 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Genitourinary-System | GU | [] |
test-315 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Respiratory-System | RESP | [] |
test-316 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Musculoskeletal-System | MSK | [
"bilateral carpal valgus"
] |
test-317 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Eyes-Ears-Nose-Throat | EENT | [
"No ophthalmological abnormalities were detected",
"based on the behaviours at home described by the owners ( the inability to find some toys, and the behaviour of ‘ scratching and biting the air ’ ), some degree of visual impairment was suspected but not confirmed",
"visible suture line in the posterior capsul... |
test-318 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Dermatology | DERM | [] |
test-319 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Pregnancy | Pregnancy | [] |
test-320 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Lymphatic-System | LYMPH | [] |
test-321 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Age-at-Presentation | Age (at case presentation) | [
"7 - month - old"
] |
test-322 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Age-of-Onset | Age (of onset) | [] |
test-323 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"congenital spongiform polioencephalomyelopathy ( CSP ) was diagnosed postmortem"
] |
test-324 | 5415296 | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | {'Case Report': 'A 7-month-old, entire female, domestic shorthair cat was referred to our behavioural service owing to house soiling and a play-related problem. The owners’ complaints were that the cat had never used the litter tray, and it did not know how to play. The environment consisted of two young adult humans w... | IEM-Treatment | IEM_Treatment | [] |
test-325 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Vitals-and-Hematology | Vitals_Hema | [] |
test-326 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Gastrointestinal-System | GI | [
"poor weight gain with swallowing dysfunction and significant reflux disease"
] |
test-327 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Patient-History | History | [
"This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia.",
"He had poor weight gain with swallowing dysfunction and significant reflux disease",
"He st... |
test-328 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Neurology | Neuro | [
"He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia",
"brachycephalic",
"swallowing dysfunction",
"started having orofacial and limb dyskinesias at 1.5 years",
"refractory multifocal epilepsy at 3 years of age",
"Electroencephalogram showed focal and diffus... |
test-329 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Laboratory-and-Imaging | Lab_Image | [
"magnetic resonance imaging brain scan and chromosomal microarray at 8 months of age, which was normal.",
"Whole - exome sequencing and direct sequencing confirmed that he harbored compound heterozygous missense mutations c.3130C > T ( p. Arg1044Cys ), c.3430C > T ( p. Arg1144Cys ), and c.4078G > A ( p. Ala1360Th... |
test-330 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Cardiovascular-System | CVS | [] |
test-331 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Endocrinology | ENDO | [] |
test-332 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Genitourinary-System | GU | [] |
test-333 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Respiratory-System | RESP | [
"central and obstructive sleep apneas at 3.5 years of age"
] |
test-334 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Musculoskeletal-System | MSK | [
"brachycephalic"
] |
test-335 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Eyes-Ears-Nose-Throat | EENT | [] |
test-336 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Dermatology | DERM | [
"hypopigmented hair"
] |
test-337 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Pregnancy | Pregnancy | [
"He was born at term, weighed 3100 g with good Apgar scores."
] |
test-338 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Lymphatic-System | LYMPH | [] |
test-339 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Age-at-Presentation | Age (at case presentation) | [
"5 years of age"
] |
test-340 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Age-of-Onset | Age (of onset) | [
"7 months of age"
] |
test-341 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [] |
test-342 | 5680934 | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | {'Case Report': 'This boy was born to nonconsanguineous Chinese parents. He was born at term, weighed 3100 g with good Apgar scores. He had global developmental delay at 7 months of age with severe head lag and generalized hypotonia. He was brachycephalic with hypopigmented hair. He had poor weight gain with swallowing... | IEM-Treatment | IEM_Treatment | [] |
test-343 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Vitals-and-Hematology | Vitals_Hema | [
"' On physical examination, the height and weight of the patient were 154 cm and 56 kg, respectively. Vital signs were normal"
] |
test-344 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Gastrointestinal-System | GI | [] |
test-345 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Patient-History | History | [
"A 52 - year - old female presented with a sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache. No fever or prodromal infection was found at disease onset.",
"Two months later, the patient was readmitted for subacute cognitive impairment. She was una... |
test-346 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Neurology | Neuro | [
"sudden onset of right - sided numbness and weakness that was accompanied by a left temporal cluster - like headache.",
"Two months later, the patient was readmitted for subacute cognitive impairment. She was unable to identify and communicate with family members; she also had difficulty understanding questions o... |
test-347 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Laboratory-and-Imaging | Lab_Image | [
"MRI demonstrated a lamellar left parietal lobe lesion predominantly involving the cortex, with hyperintensity on both diffusion - weighted imaging and fluid - attenuated inversion recovery ( Figure 1 ). The apparent diffusion coefficient map revealed a preserved, isointense signal. No abnormalities were found by s... |
test-348 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Cardiovascular-System | CVS | [] |
test-349 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Endocrinology | ENDO | [] |
test-350 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Genitourinary-System | GU | [] |
test-351 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Respiratory-System | RESP | [] |
test-352 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Musculoskeletal-System | MSK | [
"lack of symptoms of muscle weakness or pain",
"no other signs suggestive of myopathy"
] |
test-353 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Eyes-Ears-Nose-Throat | EENT | [] |
test-354 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Dermatology | DERM | [] |
test-355 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Pregnancy | Pregnancy | [] |
test-356 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Lymphatic-System | LYMPH | [] |
test-357 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Age-at-Presentation | Age (at case presentation) | [
"52 - year - old"
] |
test-358 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Age-of-Onset | Age (of onset) | [] |
test-359 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"m.10158T > C mutation in the MT - ND3 gene"
] |
test-360 | 6511931 | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | {'Chief complaints': 'A 52-year-old female presented with a sudden onset of right-sided numbness and weakness that was accompanied by a left temporal cluster-like headache. No fever or prodromal infection was found at disease onset.', 'Imaging examinations and history of present illness': 'MRI demonstrated a lamellar l... | IEM-Treatment | IEM_Treatment | [] |
test-361 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Vitals-and-Hematology | Vitals_Hema | [
"On admission to the ICU, the vital signs were as follows : body temperature, 39 ° C; blood pressure, 150/80 mmHg; heart rate, 150 b.p.m.; respiratory rate, 30 breaths / min; and SpO2, 99 % ( FiO 2 40 % )"
] |
test-362 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Gastrointestinal-System | GI | [] |
test-363 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Patient-History | History | [
"A 24â€yearâ€old woman who had been diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokeâ€like episodes was admitted to our hospital with impaired consciousness and myoclonus."
] |
test-364 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Neurology | Neuro | [
"mildly impaired consciousness and myoclonus in the extremities",
"myoclonic movement in the extremities, mandible, and trunk",
"Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subcortical areas in T2 weighted imaging",
"impaired ... |
test-365 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Laboratory-and-Imaging | Lab_Image | [
"Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene",
"A laboratory examination showed increased serum pyruvic acid ( 2.1 mg / dL ) and lactate ( 75 mg / dL )",
"Brain magnetic resonance imaging showed bilateral high‐intensity lesions in the temporal and parietal lobes of the cortical and subco... |
test-366 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Cardiovascular-System | CVS | [] |
test-367 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Endocrinology | ENDO | [] |
test-368 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Genitourinary-System | GU | [
"urine appeared brown",
"PRIS"
] |
test-369 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Respiratory-System | RESP | [] |
test-370 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Musculoskeletal-System | MSK | [
"Muscle weakness was detected in the upper and lower limbs bilaterally",
"urine appeared brown",
"PRIS"
] |
test-371 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Eyes-Ears-Nose-Throat | EENT | [] |
test-372 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Dermatology | DERM | [] |
test-373 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Pregnancy | Pregnancy | [] |
test-374 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Lymphatic-System | LYMPH | [] |
test-375 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Age-at-Presentation | Age (at case presentation) | [
"24‐year‐old",
"24‐year‐old"
] |
test-376 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Age-of-Onset | Age (of onset) | [] |
test-377 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"diagnosed with MELAS at 21 years of age . Genetic testing revealed a 3271 T > C transition in the MT‐TL1 gene , clinically confirming the diagnosis of MELAS",
"diagnosed with mitochondrial myopathy , encephalopathy , lactic acidosis , and stroke‐like episodes"
] |
test-378 | 6971469 | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | {'Case Report': 'A 24‐year‐old woman was admitted to our hospital with mildly impaired consciousness and myoclonus in the extremities. She had been diagnosed with MELAS at 21 years of age. Genetic testing revealed a 3271 T>C transition in the MT‐TL1 gene, clinically confirming the diagnosis of MELAS. After admission to... | IEM-Treatment | IEM_Treatment | [
"L‐arginine , coenzyme Q10 , and L‐carnitine aimed at supporting mitochondrial energy production were given",
"We continued coenzyme Q10 , L‐carnitine , and L‐arginine for mitochondrial support for MELAS"
] |
test-379 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Vitals-and-Hematology | Vitals_Hema | [
"normal vital signs and a body - mass index of 25 ( height : 1.65 m, weight : 68 kg )."
] |
test-380 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Gastrointestinal-System | GI | [] |
test-381 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Patient-History | History | [
"A 50 - year - old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostate Symptom Scor... |
test-382 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Neurology | Neuro | [
"did not include cognitive impairment nor seizures",
"neurological examination was normal except for mild muscle weakness at the end of the day"
] |
test-383 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Laboratory-and-Imaging | Lab_Image | [
"serum prostate specific antigen of 9.45 ng per milliliter on routine screening.",
"urinalysis was negative for pyuria or microscopic hematuria",
"common MERRF mitochondrial DNA mutation ( A8344 G ) in his blood",
"prostate biopsy revealing grade group 2 adenocarcinoma ( Gleason score 3 + 4 = 7 ) at the left ... |
test-384 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Cardiovascular-System | CVS | [
"hypertension and hypercholesterolemia"
] |
test-385 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Endocrinology | ENDO | [] |
test-386 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Genitourinary-System | GU | [
"serum prostate specific antigen of 9.45 ng per milliliter on routine screening.",
"mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostate Symptom Score of 14/35",
"no erectile dysfunction with a normal International Index of Erectile Function score ( 24/25 )."... |
test-387 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Respiratory-System | RESP | [] |
test-388 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Musculoskeletal-System | MSK | [
"exercise intolerance and mild muscle atrophy",
"mild muscle weakness at the end of the day."
] |
test-389 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Eyes-Ears-Nose-Throat | EENT | [] |
test-390 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Dermatology | DERM | [
"symmetric lipomas in his cervical region",
"multiple symmetric lipomatosis",
"large, painless, symmetrical cervical lipomas",
"cervical lipomas",
"neck lipomas"
] |
test-391 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Pregnancy | Pregnancy | [] |
test-392 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Lymphatic-System | LYMPH | [] |
test-393 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Age-at-Presentation | Age (at case presentation) | [
"50 - year - old"
] |
test-394 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Age-of-Onset | Age (of onset) | [] |
test-395 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | Confirmed-Diagnosis-IEM | Confirmed_Diagnosis(IEM) | [
"common MERRF mitochondrial DNA mutation ( A8344 G )"
] |
test-396 | 6197309 | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | {'Case presentation': 'A 50-year-old male with a history of MERRF syndrome was found to have serum prostate specific antigen of 9.45 ng per milliliter on routine screening. His urological history was significant for mild to moderate voiding dysfunction consisting of hesitancy and nocturia, with an International Prostat... | IEM-Treatment | IEM_Treatment | [] |
test-397 | 6302035 | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | Vitals-and-Hematology | Vitals_Hema | [] |
test-398 | 6302035 | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | Gastrointestinal-System | GI | [] |
test-399 | 6302035 | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | Patient-History | History | [
"The patient was a 22 - year - old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure",
"one of her father 's cousins had a para - aortic pheochromocytoma, an incidental finding in the emergency department due to abdominal pain... |
test-400 | 6302035 | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | {'Case Presentation': "We present a case of cardiac paraganglioma with left coronary artery involvement. The patient was a 22-year-old woman with a clinical history of recurrent episodes of palpitations, diaphoresis, and headache. She was found to have high blood pressure and, because of her age, several studies were d... | Neurology | Neuro | [
"headache."
] |
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