Urine Output Trajectories and Dialysis Independence in Critically Ill Children With Acute Kidney Injury: A Single-Center Retrospective Cohort Study, 2014-2023.

Objectives: To investigate whether the urine output trajectory is associated with dialysis independence in critically ill children with acute kidney injury (AKI).

Design: Retrospective cohort study.

Setting: A PICU in Japan.

DHX37 variants in patients with 46,XY disorders or differences of sex development.

Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.

Secular trends in the prevalence of small vulnerable newborns in Japan, 1997-2021.

BackgroundIn 2023, a collaborative UNICEF-WHO group introduced the concept of small vulnerable newborns (SVNs) to improve the identification of newborns at increased risk of adverse outcomes and to guide more effective preventive strategies. However, global data on the prevalence of SVNs remains scarce. This study aimed to examine secular trends in the prevalence of SVNs and their three subgroups, namely term small for gestational age (SGA), preterm SGA, and preterm non-SGA, in the Japanese population.

Trends In Reported Outcomes For Growth Hormone Therapy In Children With Growth Hormone Deficiency.

Objective: To understand the frequency and trends in reported outcomes of safety and effectiveness for recombinant human growth hormone (rhGH) therapy for growth hormone deficiency (GHD) in childhood.

Methods: A systematic review was performed in seven English and Chinese language databases. Eligibility criteria included all studies published between 2003 and 2022, with participants who started rhGH before the age of 16 years for GHD.

Safety and efficacy of arsenic trioxide in intensification therapy for newly diagnosed childhood acute promyelocytic leukemia: results from the JPLSG AML-P13 study.

Arsenic trioxide (ATO) in combination with all-trans retinoic acid (ATRA) has been shown to be effective in both adult and pediatric patients with acute promyelocytic leukemia (APL). Addition of ATO to conventional chemotherapy could lead to a reduction in the doses of cytotoxic agents, but the long-term safety of ATO is not fully understood, especially in children. The Japan Children's Cancer Group conducted a risk-stratified prospective study to investigate safety and efficacy of ATO in children with newly diagnosed APL by replacing all three intensification phases with ATO.

Isolation of Nucleated Red Blood Cells With Intact Genomic DNA From Cord Blood by Applying G&T-Seq.

Purpose: Fetal cells in maternal blood are a pure source of fetal genomic DNA for noninvasive prenatal testing (NIPT), if successfully isolated. We assessed whether single-cell genome and transcriptome sequencing (G&T-seq) can be applied to efficiently isolate fetal nucleated red blood cells (fNRBCs) suitable for genetic testing.

Methods: Using umbilical cord blood as a model, we isolated 165 single NRBC candidates from four samples and 12 single lymphocytes as controls from one sample.

Long-term outcome of mycophenolate mofetil after a single dose of rituximab in childhood-onset refractory idiopathic nephrotic syndrome.

Background: Maintenance therapy using immunosuppressive agents after rituximab can be effective for sustaining remission in childhood-onset refractory frequently relapsing nephrotic syndrome/steroid-dependent nephrotic syndrome (FRNS/SDNS). We evaluated the long-term outcome of mycophenolate mofetil (MMF) after rituximab.

Methods: We conducted a multicenter, retrospective cohort study of patients with childhood-onset refractory FRNS/SDNS who received MMF as maintenance therapy after a single dose of rituximab and were followed up ≥ 2 years at three pediatric renal centers.

Transition of Childhood Cancer Survivors into Adult Health Care: A Perspective from Adult Care.

The number of long-term childhood cancer survivors (CCSs) has been increasing, and the importance of transitioning from pediatric to adult care has been advocated. This study aimed to describe the health problems of adult CCSs from adult-care perspectives. We conducted a chart review of adult CCSs aged ≥18 years who visited a transition clinic in adult care between June 2019 and March 2024.

Maternal Acetaminophen Use and Offspring's Neurodevelopmental Outcome: A Nationwide Birth Cohort Study.

Background: Maternal acetaminophen use during pregnancy is common globally. However, its potential risks for neurodevelopmental disorders in offspring, including attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID), remain uncertain in Asian populations.

Objective: We examined the association between maternal acetaminophen use during pregnancy and diagnoses of neurodevelopmental disorders in offspring.

Safer oral immunotherapy with very low-dose introduction for pediatric hen's egg allergy.

Background: Adverse events could be a barrier to implementing oral immunotherapy (OIT) in children with hen's egg (HE) allergy, highlighting the need for safer OIT methods.

Objective: To determine the safety and efficacy of a new OIT method in a single-center, phase II, double-blind, parallel-group, randomized controlled trial.

Methods: Children aged 1 to 18 years with HE allergy whose cumulative tolerated dose (CTD) range was greater than or equal to 0.

Surgical Strategies for Hepatoblastoma Involving Four Liver Sectors, Look Back to Look Forward: Lessons From a Single-Center Experience.

Background: Liver transplantation (LT) has been recommended for hepatoblastoma (HB) involving all four liver sectors at diagnosis (PRETEXT IV). However, recent studies question the universal indication for primary LT in PRETEXT IV HB.

Methods: We reviewed 32 PRETEXT IV HB patients treated at our center from February 2007 to July 2024.

Association between women's weight gain during their infancy and being overweight or underweight in adulthood: a retrospective cohort study.

This study aimed to explore the associations between weight gain during infancy with pre-pregnant body mass index (BMI) later in life, focusing on risks of being overweight or underweight. A retrospective cohort study was conducted using data from women ( = 1082) who visited the National Center for Child Health and Development between 2017 and 2021. The participants provided their Maternal and Child Health Handbook, which included records of their own birthweight and weight gain from birth to 1, 3, and 6 months.

Multi-omics analysis identifies an M-MDSC-like immunosuppressive phenotype in lineage-switched AML with KMT2A rearrangement.

Lineage switching (LS) is the conversion of cancer cell lineage during the course of a disease. LS in leukemia cell lineage facilitates cancer cells escaping targeting strategy like CD19 targeted immunotherapy. However, the genetic and biological mechanisms underlying immune evasion by LS leukemia cells are not well understood.

Inhibition of N-myristoyltransferase in pluripotent stem cells promotes the naive state in mice and elicits trophectoderm and primitive endoderm markers in humans.

Naive and primed states represent distinct phases of pluripotency during early embryonic development, both of which can be captured and interconverted in vitro. To understand pluripotency regulation, we performed a recessive genetic screen using homozygous mutant mouse embryonic stem cells (mESCs) and identified N-myristoyltransferase (NMT) as a novel regulator. Disruption of Nmt1 in mESCs conferred resistance to differentiation, and NMT suppression in mouse epiblast stem cells (mEpiSCs) promoted the conversion from the primed to the naive state.

Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study.

An explorative study was conducted to evaluate the efficacy and safety of 5-aminolevulinic acid hydrochloride combined with sodium ferrous citrate (SPP-004) in 10 pediatric patients with Leigh syndrome (LS) aged 3-24 months in 10 institutions between December 2014 and July 2019. The patients were randomized and allocated to the SPP-004 or placebo group for a 12-week double-blind period, followed by a 12-week open-label period with SPP-004 and then a long-term study of up to 180 weeks. The efficacy and safety were evaluated using the Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) and adverse events (AEs), respectively.

Regulation of Energy and Cholesterol Metabolisms During Fetal Leydig Cell Differentiation by DHH, PDGF, and Ad4BP/SF-1.

Fetal Leydig cells (FLCs) are crucial for androgen production during fetal development. Their differentiation from progenitor cells is regulated by various factors, including Desert Hedgehog (DHH), Platelet-Derived Growth Factor (PDGF), and the transcription factor Ad4BP/SF-1 (NR5A1). Our previous research revealed significant upregulation of energy metabolism genes during FLC differentiation; however, the underlying regulatory mechanisms remain unresolved.

Factors associated with respiratory syncytial virus-neutralizing antibody titers in adults.

Background: Respiratory syncytial virus (RSV) is associated with high morbidity in children. Despite recent advances in vaccine development for adults and maternal vaccination strategies to protect newborns, data on RSV seroprevalence and neutralizing antibody titers in adults remain limited. This study aimed to measure RSV-neutralizing antibody titers in adults and explore associated background characteristics.

A Three-Stage Surgical Approach to Preserving a Severely Hypoplastic Thumb with Syndactyly: A Case Report.

Case: An 11-month-old male child presented with severe congenital thumb hypoplasia, syndactyly of the thumb and index finger, and radial longitudinal deficiency. A novel three-stage surgical approach was performed to achieve functionality while respecting familial preference for thumb preservation using sequential syndactyly release, structural reconstruction using bone graft, and muscle and tendon transfers.

Conclusion: The reconstructed thumb demonstrated early wound healing, stable alignment, and maintained a 45-degree palmar abduction even up to 5 years postoperatively.

Growth impairment in Japanese children with inflammatory bowel disease: A multicenter prospective cohort study.

Objectives: To investigate the prevalence and characteristics of growth impairment (GI) in children with inflammatory bowel disease (IBD).

Methods: In this prospective observational study, 402 children with ulcerative colitis (UC, n = 257) and Crohn's disease (CD, n = 145) were enrolled from the Japanese Pediatric IBD Registry (2012-2020). GI was defined by Paris classification criteria.

Impact of prophylactic antibiotic duration on surgical site infection rate in neonatal surgery: a multicenter retrospective observational study.

Objective: To evaluate the relationship between the incidence of surgical site infections (SSIs) and the duration of perioperative antibiotic prophylaxis (PAP) in neonatal surgery, and to identify risk factors for SSIs in neonates.

Methods: Eligible patients were neonates who underwent surgical procedures-primarily in the respiratory and gastrointestinal fields-between January 2014 and December 2023 at seven institutions. All data were retrospectively retrieved from electronic patient records.

Changes in phosphoethanolamine during the postpartum period and its association with depression.

Aim: This study aimed to examine phosphoethanolamine (PEA) in postpartum women and its association with postpartum depression (PPD).

Methods: This prospective study, performed between July 2020 and August 2021 at Fukushima Medical University Hospital, included 67 women. They answered two questionnaires, the Edinburgh Postpartum Depression Scale (EPDS) and the Patient Health Questionnaire-9 (PHQ-9).

ST2 effector memory helper T cells are responsible for long-term asthma exacerbation leading to female-predominant airway inflammation.

Background: The risk of asthma exacerbation is intrinsic to female patients. Enhanced type 2 immune responses are considered to be associated with sustained increased susceptibility to asthma exacerbation in female patients; however, the mechanisms mediating this relationship remain unclear.

Methods: Using a Dermatophagoides farinae-induced asthma mouse model, asthma-related features were evaluated.

Living Donor Liver Transplantation for Symptomatic Liver Involvement in Infant With Hereditary Hemorrhagic Telangiectasia.

Aim: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that can cause vascular malformations in multiple organs, including the liver. Although liver involvement typically remains asymptomatic until adulthood, severe cases can progress to high-output cardiac failure (HOCF). Although liver transplantation (LT) is a well-established curative option for adult patients with HHT, pediatric data are limited.

Recognizing ataxia requiring intervention: a retrospective cohort study of poor prognostic factors in pediatric emergency department patients.

Purpose: We aimed to explore the potential prognostic factors associated with poorer outcomes in pediatric patients presenting with acute-onset ataxia to guide early intervention.

Methods: This single-center retrospective cohort study was conducted at the National Center for Child Health and Development between January 2014 and May 2024. Pediatric patients aged 0-18 years who presented with acute-onset ataxia within 7 days of symptom onset were included, excluding those with pre-diagnosed causes of ataxia.