A5080156911- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Cellular transport and secretion
- Fetal and Pediatric Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Genomics and Rare Diseases
- Epilepsy research and treatment
- PI3K/AKT/mTOR signaling in cancer
- Functional Brain Connectivity Studies
- EEG and Brain-Computer Interfaces
- Autism Spectrum Disorder Research
- Neuroscience and Neuropharmacology Research
- Congenital heart defects research
- Neurological diseases and metabolism
- Neurotransmitter Receptor Influence on Behavior
- Parkinson's Disease Mechanisms and Treatments
- Hedgehog Signaling Pathway Studies
- Advanced Drug Delivery Systems
- ATP Synthase and ATPases Research
- Myasthenia Gravis and Thymoma
- Adenosine and Purinergic Signaling
- Genetic and rare skin diseases.
Kyoto Prefectural University of Medicine
2012-2025
Koshigaya Municipal Hospital
2016-2018
Kyoto University
2009
Callosal injury in preterm infants is a key factor affecting neurodevelopmental outcome. We investigated the characteristics of corpus callosum (CC) without apparent white matter lesions. studied 58 divided into three groups 23-25, 26-29, and 30-33 wk GA. Diffusion tensor imaging (DTI) was obtained at term-equivalent age. The CC parcellated genu, body, isthmus, splenium. measured fractional anisotropy (FA) diffusion coefficient (ADC) each subdivision using tractography manual region interest...
Quantum dots (QDs) are well known for their potential application in biosensing, ex vivo live-cell imaging and animal targeting. The brain is a challenging organ drug delivery, because the blood barrier (BBB) functions as gatekeeper guarding body from exogenous substances. Here, we evaluated distribution of bioconjugated QDs, i.e., captopril-conjugated QDs (QDs-cap) following intraperitoneal injection into male ICR mice model system determining tissue localization employing ICP-MS confocal...
Duchenne muscular dystrophy (DMD) causes cognitive impairment in one third of the patients, although underlying mechanisms remain to be elucidated. Recent studies showed that mutations distal part dystrophin gene correlate well with DMD which is attributed Dp71. The study on expression shortest isoform, Dp40, has not been possible due lack an isoform specific antibody. Dp40 same promoter as found Dp71 and lacks normal C-terminal end Dp427. In present study, we have raised polyclonal antibody...
Abstract Syntaxin-binding protein 1 (STXBP1) is a presynaptic that plays important roles in synaptic vesicle docking and fusion. STXBP1 haploinsufficiency causes encephalopathy (STXBP1-E), which encompasses neurological disturbances including epilepsy, neurodevelopmental disorders, movement disorders. Most patients with STXBP1-E present regression disorders adulthood, highlighting the importance of deeper understanding neurodegenerative aspects STXBP1-E. An vitro study proposed an...
Abstract Syntaxin-binding protein 1 (STXBP1; also called MUNC18–1), encoded by STXBP1, is an essential component of the molecular machinery that controls synaptic vesicle docking and fusion. De novo pathogenic variants STXBP1 cause a complex set neurological disturbances, namely encephalopathy (STXBP1-E) includes epilepsy, neurodevelopmental disorders neurodegeneration. Several animal studies have suggested contribution GABAergic dysfunction in STXBP1-E pathogenesis. However,...
This study aims to delineate the electrophysiological variances between patients with infantile epileptic spasms syndrome (IESS) and healthy controls devise a predictive model for long-term seizure outcomes.
Abstract Background Few studies have examined the effect of low‐grade intraventricular hemorrhage (IVH) on white matter in cerebellum and its association with neurodevelopment. We evaluated cerebellar at term‐equivalent age (TEA) preterm infants IVH. Furthermore, we assessed neurodevelopmental outcomes 3 years to examine influence IVH Methods Thirteen 26 without IVH, born <30 weeks’ postmenstrual (PMA), were enrolled this study. Diffusion tensor imaging (DTI) parameters, including...
Benign hereditary chorea is a rare autosomal-dominant disorder that characterized by childhood-onset nonprogressive and normal cognitive function. Defects in NKX2-1 on chromosome 14q13, which encodes thyroid transcription factor 1, produce concurrent clinical manifestation of chorea, respiratory distress, hypothyroidism known as "brain-lung-thyroid syndrome." Here, the authors describe video report benign Japanese female with novel frameshift mutation (c.915_916insC) (p.Ala303ArgfsX132) was...
Seronegative myasthenia gravis (MG) is a generalized form of MG that diagnosed on the basis clinical symptoms, electrophysiological testing, and pharmacological responses, in absence seropositive status for anti-acetylcholine receptor (AChR) antibodies. Generalized seronegative anti-AChR, anti-muscle-specific kinase (MuSK), anti-low density lipoprotein related protein 4 (Lrp4) antibodies known as triple-seronegative MG. We here describe case an 8-year-old boy. His first symptom was...
The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented congenital hypothyroidism addition to typical AKT3-related brain disorders. of this contributes delineating the associated yet uncertain endocrine complications disease-causing variant.
Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of presenting as complex hereditary spastic paraplegia (HSP) broad clinical spectra. Here, we report the case a 20-year-old Japanese woman HSP caused by variants, revealing new phenotype episodic visual loss during febrile illness.
Encephalocraniocutaneous lipomatosis (ECCL), a type of mosaic RASopathy, is rare neurocutaneous syndrome characterized by the involvement tissues with ectodermal and mesodermal origins, including cutaneous, ocular, neurological abnormalities. This report presents case neonate ECCL showing rapid progression hydrocephalus prenatally. A full-term female newborn presented head circumference enlargement bilateral abnormal hair pattern alopecia at birth. Brain imaging studies showed an enlarged...
Abstract Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). Furthermore, CPH can lead to communicating hydrocephalus; however, no cases 9p requiring resection been reported. Here, we describe first case in which hexasomy/tetrasomy mosaic patient required for hydrocephalus. This finding suggested copy number correlated severity.