A5043385720- Infectious Encephalopathies and Encephalitis
- Cytomegalovirus and herpesvirus research
- Bacterial Infections and Vaccines
- Epilepsy research and treatment
- Peripheral Neuropathies and Disorders
- Myasthenia Gravis and Thymoma
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Multiple Sclerosis Research Studies
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Neurological diseases and metabolism
- Fungal Infections and Studies
- Genomics and Rare Diseases
- Antifungal resistance and susceptibility
- Herpesvirus Infections and Treatments
- Mosquito-borne diseases and control
- Genomic variations and chromosomal abnormalities
- Neonatal Respiratory Health Research
- Hematopoietic Stem Cell Transplantation
- Long-Term Effects of COVID-19
- Mitochondrial Function and Pathology
- Pneumocystis jirovecii pneumonia detection and treatment
- Neonatal Health and Biochemistry
- Autoimmune Neurological Disorders and Treatments
Nagano Children's Hospital
2020-2025
Shinshu University
2014-2023
Pediatrics and Genetics
2017
Center for Special Minimally Invasive and Robotic Surgery
2015
Ōtani University
2014
Acute flaccid myelitis (AFM) is an acute paralysis syndrome with spinal motor neuron involvement of unknown etiology. We investigated the characteristics and prognostic factors AFM clusters coincident enterovirus D68 (EV-D68) outbreak in Japan during autumn 2015.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers encephalopathy as a serious neurological complication in children. We previously reported the clinico-radiological findings of SARS-CoV-2-associated encephalopathy. The advent SARS-CoV-2 omicron variant led to marked increase pediatric patients with disease 2019 (COVID-19); however, epidemiological changes according emergence have not yet been documented. Therefore, present study investigated differences during...
Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and prenatal features of with COL4A1/2 variants remain unclear.We examined 218 suspected COL4A1/2-related brain defects. Among those arising from variants, we focused on showing abnormal ultrasound findings validated their postnatal clinical detail.Pathogenic were detected 56 (n=56/218, 25.7%) porencephaly (n=29), schizencephaly (n=12) others (n=15)....
Objectives: We present a family with mitochondrial DNA 3243A>G mutation resulting in myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), of which some members have hearing loss novel the P2RX2 gene was identified. Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled study. Targeted genomic enrichment massively parallel sequencing all known nonsyndromic genes performed to identify genetic causes loss. Results: A that...
Abstract Fulminant W ilson's disease ( WD ) is life‐threatening. The revised prognostic index RWPI has been used to predict the severity of disease, with a score ≥11 indicating fatal outcome without liver transplantation LTx ). We here report case 10‐year‐old female patient fulminant , 16) who recovered fully after plasma exchange and continuous hemodiafiltration, followed by treatment copper chelate agents. To best our knowledge, there have five patients ≥ 11 including present patient, in...
Objective: Congenital cytomegalovirus (cCMV) infection is the most common congenital infection, with majority of infected newborns having no detectable signs. The aim this study was to examine accuracy our newly developed DBS-based assay as an appropriate mass screening method for cCMV infection.Methods: Between May 2011 and October 2016, delivered at six hospitals in Nagano Prefecture, Japan were enrolled prospectively. We employed dried blood spot (DBS)-based assays real-time quantitative...
We report the case of a 19-year-old male with possible cerebral mucormycosis following chemotherapy. detected Lichtheimia DNA load 2.0×10(4) copies/ml in cerebrospinal fluid (CSF), although CSF culture showed no growth. After treatment intravenous liposomal amphotericin B, fell below detection limit, and at same time patient's headache imaging findings improved. The quantification Mucorales may be useful for evaluating mucormycosis.
We describe successful treatment of 3 cases human herpesvirus 6 (HHV-6) encephalitis/myelitis following cord blood transplantation (CBT). Ganciclovir (GCV) (10 mg/kg/day) reduced HHV-6 load to undetectable levels in cerebrospinal fluid (CSF). Early dose reduction the presence detectable CSF resulted an increased load. GCV was capably shifted valganciclovir (VGCV) with almost equivalent concentration. GCV/VGCV may be effective for after CBT, although should monitored.
Case report.We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed occipitocervical instrumented fusion (OCF) using screw and rod instrumentations.Recently, there have been a number of reports BCDP early onset cervical myelopathy. Surgical OCF is vital intervention to salvage affected individuals from the life-threatening morbidity. Despite recent advancement instrumentation techniques, however,...