Takashi Ohya

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Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome sequencing of six families and targeted gene(More)
The Strengths and Difficulties Questionnaire (SDQ) is a short screening instrument which addresses the positive and negative behavioral attributes of infants, children and adolescents. The SDQ is widely used to evaluate child developmental disabilities, psychological and psychiatric conditions or disorders in Japan. However, we did not have normative data(More)
The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ scores/subscores in HFASD and AD/HD(More)
OBJECTIVES Aicardi-Goutières syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotype-phenotype correlations, particularly with regard to autoimmune(More)
Tuberculous endocarditis is an exceptionally rare disease, and its surgical operation has been reported in only one case. This is a successful surgical report of acute aortic insufficiency caused by tuberculous endocarditis associated with annular subvalvular left ventricular aneurysm (ASLVA) beneath the aortic valve. This patient had acute left ventricular(More)
To evaluate the development of visual cognitive function in childhood, we examined exploratory eye movements in 84 healthy subjects viewing picture-based stimuli. Age-defined groups included 4- to 6-year-olds, 7-year-olds, 10-year-olds, 14-year-olds, 16-year-olds, and adults. In each group, 7 subjects were male and 7 were female. Exploratory eye movements,(More)
To investigate the prefrontal hemodynamic response during a cognitive task in childhood anorexia nervosa (AN), we measured regional cerebral blood volume changes in terms of changes in hemoglobin concentrations [Hb], using near-infrared spectroscopy (NIRS). Sixteen females with AN (mean age 14.2 years old) and 12 age-matched healthy female control subjects(More)
Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, because the immune system is believed to(More)
A six-year-old girl living in a residential care facility because of previous sexual abuse at home showed intractable seizures with epileptic discharges on interictal EEG. The features of the attacks were sudden impaired consciousness, only in daytime while eating, studying, and walking, with no motor acts and continuing for several minutes to one hour. She(More)
We report a 4-month-old female infant who developed West syndrome eleven days after administration of a histamine H1 antagonist, oxatomide, for atopic dermatitis. It has been reported that some histamine H1 antagonists induce seizures in epileptic patients. The age, the interval between oxatomide administration, and the onset of West syndrome and its(More)