Multiomics analysis reveals the genetic and epigenetic features of high-risk NK cell-type chronic active EBV infection.

Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an orphan disease characterized by the proliferation and infiltration of EBV-infected T/natural killer (NK) cells into multiple organs. Although CAEBV is a heterogeneous disease with diverse clinical courses, its pathogenesis remains poorly understood. In this study, we explored the molecular mechanisms underlying CAEBV by performing a comprehensive multi-omics analysis, including genome, transcriptome, epigenome, and single-cell transcriptome and surface proteome analyses, of 65 CAEBV patients.

Paternal perinatal intimate partner violence victimization and child abuse.

Background: Perinatal intimate partner violence (IPV) poses significant health risks for victims and their children. While maternal IPV victimization has been extensively studied, research on paternal IPV victimization remains limited. This study examines the prevalence of paternal perinatal IPV victimization and its association with child abuse and paternal psychological distress.

Overview of the Japanese mental health services through legislation, policies and recent initiatives: a narrative review.

In Japan, mental health legislation and policies have evolved, and mental health services have progressively developed in the post-World War II era. This review introduces two essential laws: the Act on Mental Health and Welfare for Persons with Mental Disorders or Disabilities and the Act on Providing Comprehensive Support for the Daily Life and Life in Society of Persons with Disabilities. It also outlines the changes in mental health policy over the past decades, beginning with the Vision for the Reform of Mental Health and Medical Welfare of 2004, which advocated for a 'transition from hospital-centered care to community-centered care'.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Background: Recently, Newborn screening (NBS) has been expanded worldwide to include lysosomal storage diseases (LSDs) and adrenoleukodystrophy (ALD) due to the importance of early diagnosis and early treatment. In Japan, NBS for LSDs, termed expanded NBS, was first implemented in Kumamoto prefecture in 2006 as pilot study. NBS for ALD was subsequently introduced in Aichi prefecture and Gifu prefecture in 2021.

Distribution patterns of brown adipose tissue on FDG-PET/CT has age characteristics.

Purpose: Brown adipose tissue (BAT) contributes to thermoregulation and energy expenditure. Although BAT is abundant in early childhood and declines with age, its distribution across age groups remains unclear. This study examined age-related BAT distribution using fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT).

A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.

Prader-Willi syndrome (PWS) is associated with increased mortality, primarily due to complications from hyperphagia-associated obesity. Clinical trials investigating anti-hyperphagic medications are currently underway. The Hyperphagia Questionnaire for Clinical Trials (HQ-CT) is designed to assess hyperphagia in PWS, with scores ranging from 0 to 36, where higher scores indicate greater severity.

Perinatal outcomes among three types of vasa previa: Nationwide survey in Japan.

Objective: To clarify whether the maternal backgrounds and perinatal outcomes of the three types of vasa previa (VP) differ based on placental location and cord insertion.

Methods: A retrospective questionnaire survey of VP cases in all 408 perinatal centers in Japan was conducted. The survey covered the clinical information of VP cases, including maternal characteristics, prenatal management, and perinatal outcomes, between January 2020 and December 2022.

Blauth and Manske classifications for thumb hypoplasia.

Blauth's and Manske's classifications of thumb hypoplasia are widely known. Although both are used, confusion has arisen-particularly regarding the term "Blauth Type IIIB." Manske did not subdivide Blauth's Grade III; instead, he developed an independent classification system (Types I-V).

Sub-phenotypes in patients with out-of-hospital cardiac arrest who undergo extracorporeal cardiopulmonary resuscitation: a retrospective observational study from a multicenter registry.

Background: Out-of-hospital cardiac arrest (OHCA) has poor survival rates, but extracorporeal cardiopulmonary resuscitation (ECPR) shows promise for selected patients, as a second line of therapy after failure of conventional CPR to obtain return of spontaneous circulation, despite implementation challenges. This study aimed to identify distinct sub-phenotypes among patients with OHCA who undergo ECPR and to investigate their association with clinical outcomes.

Methods: This multi-center, retrospective, observational study used the Japanese Association for Acute Medicine OHCA registry from 83 hospitals that performed ECPR among 91 participating centers between June 2014 and December 2020.

Long-term outcomes after thoracoscopic versus open surgery for congenital esophageal atresia: propensity-score overlap weighting analysis.

Purpose: Congenital esophageal atresia requires neonatal surgery. Although short- and medium-term outcomes of thoracoscopic and open surgery have been investigated, long-term outcomes remain unclear. This study aimed to compare the long-term outcomes of these approaches using a Japanese national inpatient database.

Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin-Associated Periodic Syndrome.

Objective: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by gain-of-function mutations in NLRP3. Although somatic NLRP3 mosaicism is increasingly recognized, it remains unclear how variant allele frequency (VAF) changes over time and whether disease onset age reflects differences in somatic mutation dynamics. This study aimed to analyze the longitudinal VAF trends and their correlation with clonal hematopoiesis (CH) in patients with CAPS mosaicism.

Transition to Adult Care in Childhood-Onset Epilepsy: A Retrospective Cohort Study at a Japanese Children's Hospital.

Objective: Transitioning patients with childhood-onset epilepsy to adult care is often challenging, particularly for those with complex medical or social backgrounds. This study aimed to identify key factors associated with a successful transfer to inform strategies that support continuity during this vulnerable period.

Methods: A retrospective cohort study was conducted using medical records from the National Center for Child Health and Development, a tertiary pediatric hospital in Tokyo, Japan.

Highly efficient XIST reactivation in female hPSC by transient dual inhibition of TP53 and DNA methylation during Cas9 mediated genome editing.

The irreversible erosion of X-chromosome inactivation (XCI) due to repression of the long non-coding RNA XIST presents a major challenge for disease modeling and raises safety concerns for the clinical application of female human pluripotent stem cells (hPSCs) due to the aberrant overexpression of X-linked genes. While Cas9-mediated non-homologous end joining (NHEJ) targeting the XIST promoter can induce DNA demethylation and restore XCI by reactivating XIST, its efficiency remains low. Here, we introduce a highly efficient strategy for XIST reactivation by combining TP53 inhibition with suppression of DNA methylation maintenance during Cas9-mediated NHEJ.

Comparison of Learning Experience With On-Site Versus Off-Site Telesimulation for Medical Students in Pediatric Emergency Care.

Objective: The learner experience with on-site versus off-site telesimulation participation is not well described. We hypothesized that off-site participation was associated with lower debriefing effectiveness, higher taskload, and less performance improvement.

Design: In a telesimulation program between the Children's Hospital of Philadelphia, USA, and Kanazawa University, Japan, fifth-year medical students in Japan were assigned to either on-site (simulation room) or off-site (different location) participation in a 1-hour simulation session during a 4-week pediatric rotation.

Assessment and prediction models for the quantitative and qualitative reserve of the ovary using machine learning.

Background: The age-related decline of fertility is caused by a reduction of the ovarian reserve, which is represented by the number and quality of oocytes in the ovaries. Anti-Müllerian hormone (AMH) is considered one of the most useful markers of the quantity of the ovarian reserve; however, a more accurate prediction method is required. Furthermore, there is no clinically useful tool to assess the quality of the ovarian reserve and therefore a prediction tool is required.

Prevalence and associated factors of waterpipe tobacco smoking in Japan.

Introduction: Despite the global increase in waterpipe tobacco use (hookah tobacco, shisha), its prevalence and characteristics are understudied in Japan. We aimed to investigate the prevalence and associated factors of waterpipe tobacco use in the Japanese population.

Methods: Data were obtained from the Japan 'Society and New Tobacco' Internet Survey, conducted in February 2023.

A predictive model of delayed pseudoaneurysm formation in paediatric patients with isolated blunt splenic injury using logistic regression analysis.

Aim: To develop and evaluate a predictive model for delayed pseudoaneurysm formation after non-operative management (NOM) in children with blunt splenic injuries.

Methods: A post hoc analysis of a multicenter cohort study in Japan included patients aged ≤16 years who underwent NOM for isolated blunt splenic injuries. The outcome was the formation of a pseudoaneurysm, which was not identified on admission and confirmed at least 24 h after admission.

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Background And Aim: Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (PL) are rare genetic disorders characterized by accelerated aging and early onset cardiovascular complications. Despite recent advances in the genetic diagnosis of HGPS and PL and the advent of lonafarnib treatment, the epidemiology and clinical characteristics of these disorders in Asia remain unclear. This study aimed to assess the prevalence, clinical features, and diagnostic trends of the HGPS and PL in Japan.

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.

Kallmann syndrome is a rare endocrinopathy characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction. The current understanding of the genetic basis of Kallmann syndrome is fragmentary. TCF12 is a causative gene for autosomal dominant craniosynostosis with various complications.

Post-transplant maintenance with blinatumomab for children, adolescents, and young adults with relapsed and refractory B-cell acute lymphoblastic leukemia: results of phase I in SCT-ALL-BLIN21.

Not available.

Maternal Mosapride Citrate Hydrate Exposure During the First Trimester: Assessing Risks for Congenital Anomalies.

Background And Objective: Data on mosapride citrate hydrate (mosapride) safety during pregnancy are limited. This study aimed to evaluate the effects of maternal mosapride exposure on pregnancy and infant outcomes.

Methods: We conducted a prospective cohort study using data from two teratology information centers in Japan.

Real-World Effectiveness for Sublingual Allergen Immunotherapy Among School-Aged Children and Adolescents.

Background: Sublingual allergen immunotherapy (SLIT) is a safe and effective treatment of allergic rhinitis, and its use has been increasing in recent years. Although several randomized and observational studies showed the effectiveness of SLIT among adults and children aged > 12 years, its extent remains unclear in nationwide routine healthcare settings for school-aged children.

Methods: We conducted a propensity score (PS)-matched cohort study using a nationwide administrative database.

Feasibility and Safety of Small Bowel Capsule Endoscopy in Very Early-Onset Inflammatory Bowel Disease: A Multi-Institutional Study.

Background: Small bowel capsule endoscopy is a valuable modality for evaluating small intestinal lesions in children with inflammatory bowel disease. However, its application for very early-onset inflammatory bowel disease remains insufficiently documented. This study investigated the feasibility and safety of small bowel capsule endoscopy for very early-onset inflammatory bowel disease.

VarMeter: a prediction method for the impact of glycogene variants.

The clinical relevance of glycans, which play a wide array of physiological roles, is underscored by the emergence of congenital disorders of glycosylation, a group of rare inherited diseases caused by defects in glycan-related genes (glycogenes). Biochemical studies of recombinant proteins and phenotypic analyses in knockout mice are revealing critical insights into the roles of various glycosyltransferases, glycosidases, and glycan-binding proteins. However, the biological functions of numerous glycogenes and their role in disease remain incompletely understood, partly due to human-specific functions that are not recapitulated in model organisms, and partly due to the structural diversity and complexity of glycan modifications, which are difficult to fully assess by conventional methods.

Adverse Events Associated with Airway Management in Pediatric Anesthesia: A Prospective, Multicenter, Observational Japan Pediatric Difficult Airway in Anesthesia (J-PEDIA) Study.

Background: The incidence of adverse events and desaturation during airway-securing procedures (a sequence from preoxygenation to completion of tracheal intubation or supraglottic airway placement) under general anesthesia in children remains underexplored. Thus, this study investigated the incidence of adverse and desaturation events and associated risk factors.

Methods: This was a prospective, multicenter, observational study conducted between June 2022 and January 2024 in 10 tertiary care (6 pediatric and 4 university [mixed adult-pediatric]) hospitals in Japan.