Publications by authors named "Akira Oka"

Objective: To evaluate the long-term hearing outcomes of infants with symptomatic congenital cytomegalovirus (CMV) disease who received 16 mg/kg of oral valganciclovir (VGCV) twice daily for six months.

Study Design: We have currently performed a long-term extension study of an investigator-initiated, single-arm, prospective, multicenter clinical trial, in which 24 infants were treated with VGCV. Hearing outcomes up to three years after treatment initiation were described and the longitudinal changes in the proportion of "Improved hearing" were analyzed using logistic regression.

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Purpose: Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.

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Purpose: Epileptic spasms are the primary symptom of infantile epileptic spasms syndrome (IESS); however, their direct impact on blood-brain barrier (BBB) function is unknown. Matrix metallopeptidase-9 (MMP-9), degrades type IV collagen, a key component of the blood-brain barrier, while tissue inhibitor of metalloproteinase-1 (TIMP-1) suppresses its activity, protecting BBB integrity. This study aimed to assess serum MMP-9 and TIMP-1 levels in patients with IESS of unknown etiology.

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Purpose: Infantile epileptic spasms syndrome (IESS) with epileptic spasms as the main seizure type, is treated with adrenocorticotropic hormone (ACTH). This study, for the first time, examines the effects of epileptic spasms and ACTH on blood-brain barrier (BBB) permeability in patients with IESS of unknown etiology.

Methods: We prospectively evaluated the changes in BBB permeability in patients with IESS of unknown etiology at the Saitama Children's Medical Center between February 2012 and February 2024.

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Article Synopsis
  • Congenital cytomegalovirus (cCMV) infection is the most prevalent congenital infection in developed nations, and while there’s no established standard therapy yet, management evidence is growing.
  • The first edition of the "Clinical Practice Guidelines for the Management of Congenital Cytomegalovirus Infection" was published in Japan in 2023, outlining key clinical questions related to cCMV.
  • The guidelines cover 20 clinical questions on aspects like prenatal risk assessment, diagnosis, treatment, and follow-up, along with recommendations and consensus rates to aid healthcare providers in managing cCMV patients.
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  • A study in Japan examined pediatric patients aged 0-19 who died from SARS-CoV-2 infection between January and September 2022, identifying 62 cases and analyzing detailed medical information from 53 of those patients.
  • Of the patients with internal causes of death, 15% were infants under 1 year old, 59% had no underlying health conditions, and 88% of those eligible for vaccination had not been vaccinated.
  • Key findings showed that 46% experienced out-of-hospital cardiac arrest, nonrespiratory symptoms were more prevalent than respiratory symptoms, and the primary suspected causes of death were central nervous system and cardiac abnormalities; the study emphasizes close monitoring of pediatric patients in the week following symptom onset
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  • A study evaluated the use of intravenous lacosamide in treating cluster seizures in 25 pediatric patients, finding that 48% showed a positive response with seizure freedom lasting at least 12 hours.
  • Among those treated as a first-line therapy, 52.9% achieved complete seizure remission, particularly in patients with remote causes.
  • No adverse events were reported, suggesting lacosamide therapy could be a safe and effective option for managing cluster seizures in children.
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  • Whole exome sequencing was performed on affected sibling pairs and their parents to identify harmful single nucleotide variants (SNVs) connected to EDs, with two significant non-synonymous SNVs discovered in genes related to neurotransmitter systems.
  • The identified variants in the corticotropin-releasing hormone receptor 2 and glutamate metabotropic receptor 8 may contribute to the biological understanding of EDs, potentially guiding future treatments and insights into their development.
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Novel therapeutic strategies are urgently required for osteosarcoma, given the early age at onset and persistently high mortality rate. Modern transcriptomics techniques can identify differentially expressed genes (DEGs) that may serve as biomarkers and therapeutic targets, so we screened for DEGs in osteosarcoma. We found that osteosarcoma cases could be divided into fair and poor survival groups based on gene expression profiles.

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Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is caused by pathogenic variants in the fibroblast growth factor 23 (FGF23) gene, which plays a key role in the regulation of phosphorus metabolism. FGF23 has the RXXR motif recognized by furin, leading to cleavage between R179 and S180 and thereby inactivating the protein's function. Previously reported variants in FGF23 causing ADHR occurred only affecting residues R176 or R179, which are located in the RXXR motif, leading to impaired cleavage.

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Introduction: Insurance coverage for oral valganciclovir (VGCV) began in Japan in April 2023 on the basis of results, including our clinical trials for symptomatic congenital cytomegalovirus (CMV) disease. The VGCV treatment is available throughout Japan, so clinicians must consider the likelihood of hearing improvement and the possibility of neutropenia before dosing.

Materials And Methods: We performed a substudy of an investigator-initiated, single-arm, prospective, multicenter, clinical trial in which 24 infants with symptomatic congenital CMV disease were orally administered 16 mg/kg VGCV twice daily for 6 months as an intervention.

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Here we report the largest Asian genome-wide association study (GWAS) for systemic sclerosis performed to date, based on data from Japanese subjects and comprising of 1428 cases and 112,599 controls. The lead SNP is in the FCGR/FCRL region, which shows a penetrating association in the Asian population, while a complete linkage disequilibrium SNP, rs10917688, is found in a cis-regulatory element for IRF8. IRF8 is also a significant locus in European GWAS for systemic sclerosis, but rs10917688 only shows an association in the presence of the risk allele of IRF8 in the Japanese population.

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Background: Alopecia areata (AA) is considered complex genetic and tissue-specific autoimmune disease. We recently discovered a nonsynonymous variant in the coiled-coil alpha-helical rod protein 1 () gene within the AA risk haplotype. And a water avoidance stress test on knockout mice induced AA-like lesions.

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Introduction: With category II fetal heart rate tracings, the preferred timing of interventions to prevent fetal hypoxic brain damage while limiting operative interventions remains unclear. We aimed to estimate fetal extracellular base deficit (BD ) during labor with category II tracings to quantify the timing of potential interventions to prevent severe fetal metabolic acidemia.

Material And Methods: A longitudinal study was conducted using the database of the Recurrence Prevention Committee, Japan Obstetric Compensation System for Cerebral Palsy, including infants with severe cerebral palsy born at ≥34 weeks' gestation between 2009 and 2014.

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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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Background: The number of adult patients with childhood-onset chronic diseases is increasing. However, the process of transitioning these patients from child- to adult-centered medical services faces many difficulties. Despite the key role that doctors in the pediatric field are considered to play in transition, few fact-finding surveys about transition have been conducted among these doctors.

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Background: Microglial cells play an important role in the immune system in the brain. Activated microglial cells are not only injurious but also neuroprotective. We confirmed marked lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1) expression in microglial cells in pathological lesions in the neonatal hypoxic-ischemic encephalopathy (nHIE) model brain.

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Article Synopsis
  • * Researchers analyzed data from 12 patients treated at Saitama Children's Medical Center, noting a positive response rate of 58.3%, but only 2 of those responders remained seizure-free at the last follow-up visit.
  • * Findings indicate that patients showing specific epileptic discharges shortly after starting ACTH therapy are at a higher risk for seizures to return later on.
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Background: Congenital cytomegalovirus (CMV) infection (cCMV) can cause sensorineural hearing loss and neurodevelopmental disabilities in children. Oral valganciclovir (VGCV) therapy has been reported to improve long-term audiological and neurodevelopmental outcomes in patients with cCMV. The levels of CMV DNA in whole blood have been monitored in previous studies.

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Congenital disorders characterized by the quantitative and qualitative reduction in the number of functional nephrons are the primary cause of chronic kidney disease (CKD) in children. We aimed to describe the alteration of urinary extracellular vesicles (uEVs) associated with decreased renal function during childhood. By nanoparticle tracking analysis and quantitative proteomics, we identified differentially expressed proteins in uEVs in bilateral renal hypoplasia, which is characterized by a congenitally reduced number of nephrons.

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  • Cerebral palsy is more common in preterm infants, and while fetal heart rate monitoring doesn't directly decrease its incidence, it can help determine the timing of brain injuries related to delivery and assist in developing preventative strategies.
  • The study aimed to analyze how the timing of brain injuries correlates with their types in severe cases of cerebral palsy in preterm infants, specifically those born between 2009 and 2014 at 28 to 33 weeks gestation.
  • Researchers used a nationwide database and evaluated fetal heart rate patterns and brain MRI findings to categorize injuries, with analyses performed by blind reviewers to ensure objectivity. *
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  • * Researchers identified the PHGDH gene as a key player in aggressive neuroblastomas, particularly in cases with poor prognosis and certain genetic features.
  • * Inhibiting serine metabolism via PHGDH and combining it with arginine metabolism inhibitors showed promise in reducing neuroblastoma cell growth, suggesting a new treatment strategy focused on these metabolic pathways.
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