Publications by authors named "Masashi Mizuguchi"

Article Synopsis
  • Researchers wanted to create clear rules for identifying a sickness called 'infection-triggered encephalopathy syndrome (ITES)' and five related types of it.
  • They talked to expert doctors for a long time to agree on how to recognize ITES by checking for things like infection, symptoms, and brain scans.
  • With these new definitions, doctors can better understand ITES and help with future studies and treatments for it.
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, and . Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC.

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Objective: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers acute encephalopathy as a serious neurological complication in children. We previously reported the clinico-radiological findings of SARS-CoV-2-associated encephalopathy. The advent of the SARS-CoV-2 omicron variant led to a marked increase in pediatric patients with coronavirus disease 2019 (COVID-19); however, epidemiological changes with acute encephalopathy according to the emergence of SARS-CoV-2 have not yet been documented.

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Objective: Acute necrotizing encephalopathy (ANE) is a severe complication of infectious diseases affecting the brain and systemic organs. The main pathogenesis is cytokine storm, in which interleukin-6 (IL-6) and interleukin-10 (IL-10) are candidates for key cytokines. To further elucidate their roles in the etiology and pathogenesis of ANE, we studied polymorphisms in the promotor regions of the and genes by genetic and functional analyses.

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Article Synopsis
  • The 2023 update of the "Clinical Practice Guidelines for tuberous sclerosis complex-associated renal angiomyolipoma" addresses new clinical issues that have emerged since the last version in 2016.
  • This update was collaboratively developed by the Japanese Urological Association and the Japanese Society of Tuberous Sclerosis Complex, adhering to specific guidelines for treatment guideline creation.
  • The guidelines consist of 14 sections, covering background, clinical, and future questions, with recommendations based on evidence and member votes, aimed at enhancing treatment practices for affected patients.
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Article Synopsis
  • The study aimed to determine if SARS-CoV-2 infection leads to acute encephalopathy in children and to identify the prevalent syndromes and their outcomes among pediatric patients in Japan from January 2020 to May 2022.
  • A nationwide survey of the Japanese Society of Child Neurology found 31 eligible patients, with common diagnoses being biphasic seizures and cases linked to multisystem inflammatory syndrome in children (MIS-C).
  • Out of the 31 patients studied, 29% experienced severe outcomes or died, highlighting the seriousness of encephalopathy associated with severe COVID-19 symptoms.
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Acute encephalopathy is a constellation of syndromes in which immune response, metabolism and neuronal excitation are affected in a variable fashion. Most of the syndromes are complex disorders, caused or aggravated by multiple, genetic and environmental risk factors. Environmental factors include pathogenic microorganisms of the antecedent infection such as influenza virus, human herpesvirus-6 and enterohemorrhagic , and drugs such as non-steroidal anti-inflammatory drugs, valproate and theophylline.

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Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline mutations of either the TSC1 or TSC2 gene, but somatic mutations were identified in both genes, and the combined effects of TSC1 and TSC2 mutations have been unknown.

Methods: The present study investigated social behaviors by the social interaction test and three-chambered sociability tests, effects of rapamycin treatment, and gene expression profiles with a gene expression microarray in Tsc1 and Tsc2 double heterozygous mutant (TscD) mice.

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Article Synopsis
  • Acute encephalopathy (AE) in children is a dangerous disorder linked to viral infections, and standard treatments are still lacking despite guidelines established in 2016 by the Japanese Society of Child Neurology.
  • A 2021 survey of pediatric neurologists showed that almost all (98%) utilized the 2016 guidelines, and there was a notable increase in the use of treatments like targeted temperature management, vitamin administration, and continuous EEG monitoring between 2015 and 2021.
  • Although the guidelines helped improve treatment approaches, there's still a need for more research to validate effective treatments and appropriate criteria for managing AE.
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  • The study focused on predicting acute encephalopathy syndromes (AES) in children who experienced febrile status epilepticus and evaluated the role of EEG in early diagnosis.
  • Researchers analyzed data from 120 children with febrile status epilepticus, identifying 11 cases of AES and examining the correlation between clinical symptoms, lab data, and AES occurrence.
  • A scoring model using serum creatinine and other lab results identified a high risk of AES, with EEG findings showing non-convulsive seizures in some patients post-ictus.
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  • * Researchers analyzed data from surveys conducted in 2014 and 2015 involving 187 NICUs, finding that Brazilian infants had significantly higher mortality odds and lower chances of surviving without serious complications.
  • * Factors leading to increased mortality in Brazilian NICUs included Air Leak Syndrome, Necrotizing Enterocolitis, and Late Onset Sepsis, highlighting critical health challenges faced by these infants.
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Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe neurologic complication of febrile infectious diseases in children. At the onset, AESD is clinically manifested as febrile status epilepticus. Subsequent damage to the cerebral cortex is ascribed to neurotoxicity.

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Neutralizing antibodies (NAbs) to human cytomegalovirus (HCMV) are associated with the risk of transplacental HCMV infection of the fetus in pregnant women. The IgG-positivity rate to HCMV determined by enzyme immunoassay (EIA) or indirect immunofluorescence assay has decreased from approximately 100% to 70% over the past 30 years in Japan. We tested serum samples from 630 Japanese women aged 20-49 years whose blood samples were obtained between 1980 and 2015.

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Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe syndrome of acute encephalopathy that affects infants and young children. AESD is a polygenic disorder preceded by common viral infections with high fever. We conducted an association study of human leukocyte antigen (HLA) regions with AESD using HLA imputation.

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Article Synopsis
  • Improvements in treatment efficacy and social support have allowed more patients with neurological diseases to reach adulthood, which necessitates continuous healthcare from childhood into adulthood.
  • The Special Committee for Measures Against Transition from Pediatric to Adult Health Care of the Japanese Society of Neurology began addressing issues related to this transition in July 2020.
  • Both pediatric and adult neurologists recognize the need for a smoother transition process, but there are challenges within the medical system that need to be addressed, including better understanding and assessment of related medical service fees.
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Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe encephalopathy preceded by viral infections with high fever. AESD is a multifactorial disease, however, few disease susceptibility genes have previously been identified. Here, we conducted a genome-wide association study (GWAS) and assessed functional variants in non-coding regions to study genetic susceptibility in AESD using 254 Japanese children with AESD and 799 adult healthy controls.

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Herpes simplex virus 1 (HSV-1)-TK (8UAG) expresses a truncated thymidine kinase (TK) translated from the second initiation codon due to a stop codon (UAG) at the 8th position (counted from the first initiation codon). Here, we showed that the sensitivity of HSV-1-TK (8UAG) to acyclovir (ACV) is similar to that of the control HSV-1 wild-type (WT), which expresses an intact TK protein. However, HSV-1-TK (44UAG), which expresses a truncated TK due to a UAG codon at position 44, showed lower sensitivity to ACV.

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Purpose: Autosomal dominant acute necrotizing encephalopathy (ADANE) is caused by missense mutations in the gene encoding Ran-binding protein 2 (RANBP2), a nuclear pore protein regulating mitochondrial localization and function. Previous studies have found that RANBP2 binds to COX11 and suppresses its inhibitory activity over hexokinase1. To further elucidate mitochondrial dysfunction in ADANE, we analyzed the interaction between mutated RANBP2 and COX11.

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Article Synopsis
  • The mTOR system in the brain regulates important aspects like cell shape and functions related to learning, memory, and social interaction.
  • Tuberous sclerosis complex (TSC) is a congenital disorder linked to a malfunction of the TSC1/TSC2 complex, leading to excessive mTOR activity, which results in symptoms like epilepsy and intellectual disabilities in children.
  • Recent studies show that mTOR inhibitors may effectively treat epilepsy in TSC patients and improve autism symptoms in TSC model mice, suggesting potential for new treatments for related developmental disorders.
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Background: Acute necrotizing encephalopathy (ANE) is a severe encephalopathy associated with acute viral infection. While most ANE cases are sporadic, pathogenic variants in the gene RAN binding protein 2 (RANBP2) have been identified as a major cause of familial or recurrent ANE (ANE1). Although sporadic ANE predominantly affects Asian children, ANE1 is very rare in east Asia.

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Preterm birth is known to be associated with chronic disease risk in adulthood whereby epigenetic memory may play a mechanistic role in disease susceptibility. Gestational age (GA) is the most important prognostic factor for preterm infants, and numerous DNA methylation alterations associated with GA have been revealed by epigenome-wide association studies. However, in human preterm infants, whether the methylation changes relate to transcription in the fetal state and persist after birth remains to be elucidated.

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Strains of Rotarix, a live attenuated monovalent oral rotavirus vaccine, replicate in the intestine and are shed for about one month in immunocompetent recipients. The current study aimed to identify genetic changes of shed strains to reveal any significant mutations and their clinical impact on recipients. Stool samples of recipients of the first dose of Rotarix were sequentially collected for one month from the day of administration.

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Article Synopsis
  • * There are several types of acute encephalopathy, with some showing similarities and others differing in their characteristics, including acute necrotizing encephalopathy and clinically mild encephalitis.
  • * The 2016 guidelines from the Japanese Society of Child Neurology provide a comprehensive overview of diagnosis and treatment for acute encephalopathy in children, and this article aims to make those insights accessible to the global medical community by summarizing them in English.
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Article Synopsis
  • Human cytomegalovirus (HCMV) can lead to serious health issues, particularly in pregnant women and immunocompromised individuals, prompting a study on how antibodies neutralize the virus.
  • The study analyzed serum samples from 78 healthy adults to investigate the correlation between HCMV neutralizing antibody titers and responses to specific glycoprotein complexes (gB, gH/gL, and gM/gN) using various assays.
  • Results indicated that while there was no significant link for gB and gM/gN, a strong positive correlation was found between gH/gL complex antibodies and HCMV neutralization, suggesting gH/gL complexes are crucial for effective virus neutralization.*
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