A5009057057- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Hedgehog Signaling Pathway Studies
- EEG and Brain-Computer Interfaces
- Erythrocyte Function and Pathophysiology
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Hereditary Neurological Disorders
- Infectious Encephalopathies and Encephalitis
- Cardiomyopathy and Myosin Studies
- Advanced MRI Techniques and Applications
- Functional Brain Connectivity Studies
- Epigenetics and DNA Methylation
- Biomedical Research and Pathophysiology
- Signaling Pathways in Disease
- Thallium and Germanium Studies
- Adrenal and Paraganglionic Tumors
- Peripheral Neuropathies and Disorders
- Genomics and Rare Diseases
Sapporo City General Hospital
2009-2020
Obihiro Kyokai Hospital
2020
University of Miyazaki
2013-2015
Mie University
2010
Hokkaido University
2002-2010
Nagoya City University
2006
Dokkyo University
2006
Teikyo University
2006
Chiba University
2006
Kameda Medical Center
2006
<b>Background: </b> Patients with encephalopathy heralded by a prolonged seizure as the initial symptom often have abnormal subcortical white matter on diffusion-weighted MRI (DWI). <b>Objective: To determine if these patients share other common features. <b>Methods: and followed identification of were collected retrospectively. Their clinical, laboratory, radiologic data reviewed. <b>Results: Seventeen identified, ages 10 months to 4 years. All had febrile (longer than 1 hour in 12...
Abstract Kabuki syndrome is a rare, multiple malformation disorder characterized by distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of reported with syndrome, but parent‐to‐child transmission in more than half‐dozen instances indicates that it an autosomal dominant disorder. We recently caused mutations MLL2 , gene encodes Trithorax‐group histone methyltransferase, protein...
Summary Purpose: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy suppression‐burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects mutations, and examine their biologic aspects. Methods: analyzed 29 54 cases cryptogenic EIEE West syndrome, respectively, as a second cohort. RNA splicing lymphoblastoid cells from subject harboring c.663 + 5G>A mutation. Expression protein missense examined neuroblastoma2A...
Here, we report on validating a mitochondrial gene therapy by delivering nucleic acids to mitochondria of diseased cells MITO-Porter, liposome-based carrier for delivery. We used derived from patient with disease G625A heteroplasmic mutation in the tRNAPhe DNA (mtDNA). It has been reported that some diseases are caused mutations, which both mutated and wild-type (WT) genes present, accumulation pathological mutations leads serious, intractable, multi-organ diseases. Therefore, decrease rate...
Mutations in the m.13094T>C MT-ND5 gene have been previously described three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at time analysis (median age death was 10 years (range: 5·4 months−37 years, IQR = 17·9 years). Nine manifested with LS, one mitochondrial encephalomyopathy, lactic acidosis stroke-like episodes (MELAS), Leber...
Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features syndrome. Methods: Through mailing list Annual Zao Conference on Pediatric Neurology, we collected 15 patients clinically diagnosed syndrome, who had encephalopathy, defined as a condition decreased consciousness or without other neurologic symptoms, such seizures, lasting for >24 h association infectious symptoms. Key Findings: There...
<h3>Background</h3> Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis stroke-like episodes (MELAS) are established phenotypes of encephalomyopathy. The m.8356T>C transition in the tRNA<sup>Lys</sup> gene is a pathogenic mutations MERRF. m.3243A>G tRNA<sup>Leu</sup> detected most MELAS patients. Although previous analyses double DNA (mtDNA) were useful for discussing their nature, many unsolved questions remain. <h3>Objective</h3> To...
Few studies have investigated interactive health literacy (IHL)'s relationship with adolescents' smoking-related behavior. This study IHL's association susceptibility to future smoking.We conducted a school-based cross-sectional of Japanese students enrolled in public junior high school, grades 7-9 (n=1937), who completed self-report questionnaire. Variables were grade, gender, media exposure [television (TV), internet, and magazines], IHL (interest learning about health, understanding what...
Abstract We identified a family with lysosome‐associated membrane protein‐2 deficiency (Danon disease) associated novel 883 ins‐T mutation in the gene located at Xq24. Although affected son and daughter carried same mutation, it was not detected their mother's peripheral blood or buccal cells; this indicated germline mosaicism. This is first molecular evidence for mosaicism Danon disease has important implications genetic counseling.
Our current purpose is to evaluate the applicability of dynamic statistical parametric mapping, a novel method for localizing epileptiform activity recorded with magnetoencephalography in patients epilepsy. We report four pediatric focal epilepsies. Magnetoencephalographic data were collected 306-channel whole-head helmet-shaped sensor array. calculated equivalent dipoles and mapping movies interictal discharges that based minimum-L2 norm estimate, minimizing square sum dipole element...
Abstract Objective: We present a patient with mitochondrial hearing loss and novel DNA transition, who underwent successful cochlear implantation. Case report: An 11-year-old girl showed epilepsy progressive loss. Despite the use of aids, she gradually lost her remaining ability. Laboratory data revealed elevated lactate levels, indicating dysfunction. Magnetic resonance imaging diffuse, mild brain atrophy. Cochlear implantation was performed, patient's ability markedly improved. Whole...
Ollier's disease is characterized by the hamartomatous proliferation of cartilage cells, producing masses termed chondromas. A patient presented with which was found to be associated diffuse gliomas. Investigating this crucial as there a high risk sarcomatous transformation skeletal lesions well an increased developing extra-osseous malignancies.