Measurement of Salivary Cortisol for Revealing Age-Specific Dependence of Cortisol Levels on Time, Feeding, and Oxygen Metabolism in Newborn Infants.

Salivary cortisol is widely used to assess stress and circadian rhythms, yet its control variables in neonates, particularly regarding postnatal age, remain poorly understood. To elucidate age-specific effects of clinical variables on cortisol levels, 91 neonates with a mean (standard deviation) gestational age of 34.2 (3.

Effect of maternal bisphenol exposure on adverse pregnancy and neonatal outcomes: The Japan Environment and Children's study.

Maternal exposure to bisphenols, including bisphenol A (BPA), reportedly results in adverse pregnancy and offspring health outcomes. However, large birth cohort studies on the risk of BPA exposure during pregnancy remain limited. Here, we examined bisphenols' effects on adverse pregnancy and neonatal outcomes using data from the Japan Environment and Children's Study, a nationwide birth cohort study.

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal, and kidney dysfunction. The genetic cause of RSS remains to be fully defined, and limited information is available regarding the root cause of the multiple tissue phenotypes. Causative mutations in the Commander multiprotein assembly are an emerging feature of this syndrome.

De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

Beckwith-Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele and excluded other genetic etiologies. These findings not only expand the BWSp concept but also highlight the potential value of allelic origin analysis in cases with atypical presentations.

Incidence and Risk Factors of White Matter Lesions in Moderate and Late Preterm Infants.

: Moderate and late preterm infants (32-36 weeks of gestation) are at significant risk of developmental impairments. Incidence of white matter lesions, which are associated with developmental impairments in very preterm infants, remains underreported in this population. This study aimed to assess the incidence and clinical risk factors associated with brain lesions, particularly white matter lesions, in moderate and late preterm infants using term-equivalent MRI.

Characteristics of neonatal-onset and presumed neonatal arterial ischemic stroke.

Objective: To clarify the difference in clinical-radiological features between neonatal-onset arterial ischemic stroke (AIS) and presumed neonatal AIS with a normal neonatal neurological history.

Methods: Twenty-one neonatal AIS patients and seven with presumed neonatal AIS were identified in Aichi Prefecture, Japan, between 2010 and 2014. MRI and clinical characteristics were determined.

Determinants of acute phase reactant scores in well-appearing neonates with maternal risk factors for neonatal infection.

Aim: Approximately 99% of neonatal deaths from sepsis occur in low-to middle-income countries, highlighting the need for efficient screening tools. The Acute Phase Reactant (APR) score comprises C-reactive protein, α1-acid glycoprotein, and haptoglobin, and can be assessed using a latex agglutination kit without modern equipment and expertise. This study assessed APR-score inter-rater reliability and identified non-infectious independent variables associated with positive APR scores in well-appearing term neonates with maternal risk factors for neonatal infection.

Clinical and genetic spectrum of patients with IRF2BPL syndrome.

Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.

Significance of birth in the maintenance of quiescent neural stem cells.

Birth is one of the most important life events for animals. However, its significance in the developmental process is not fully understood. Here, we found that birth-induced alteration of glutamine metabolism in radial glia (RG), the embryonic neural stem cells (NSCs), is required for the acquisition of quiescence and long-term maintenance of postnatal NSCs.

High Shear Stress Reduces ERG Causing Endothelial-Mesenchymal Transition and Pulmonary Arterial Hypertension.

Background: Computational modeling indicated that pathological high shear stress (HSS; 100 dyn/cm) is generated in pulmonary arteries (PAs; 100-500 µm) in congenital heart defects causing PA hypertension (PAH) and in idiopathic PAH with occlusive vascular remodeling. Endothelial-to-mesenchymal transition (EndMT) is a feature of PAH. We hypothesize that HSS induces EndMT, contributing to the initiation and progression of PAH.

Associations of maternal urinary nitrophenol concentrations with adverse birth outcomes and neurodevelopment delay at 4 years of age: The Japan environment and children's study.

Maternal urinary nitrophenol concentrations are reportedly associated with preterm birth and foetal/offspring development delay, but the evidence is still inconclusive. We investigated the association between maternal urinary concentrations of 4-nitrophenol (4NP) and 3-methyl-4-nitrophenol (3M4NP) and adverse birth outcomes, as well as offspring neurodevelopment delay, defined using the Ages and Stages Questionnaires at 4 years of age, stratified by offspring sex. A total of 3650 non-hypertensive mothers with singleton births were enrolled from the Japan Environment and Children's Study.

Associations of 1.5- and 3-year phthalate exposure levels with early adiposity rebound and overweight/obesity in Japanese children: An adjunct study of the Japan Environment and Children's Study.

The relationship between early childhood phthalate exposure and early adiposity rebound (EAR) is unclear. This study aimed to investigate the association between 1.5- and 3-year phthalate exposure and EAR and overweight/obesity in 7.

Effect of swimming initiation period and continuation frequency on motor competence development in children aged up to 3 years: the Japan environment and children's study.

Background: Although involvement of toddlers in swimming activities has increased recently, information regarding the impact of swimming during toddlerhood on subsequent child motor competence development is scarce. This study aimed to determine how swimming experience, particularly the timing of initiation and the continuity of swimming activities up to the age of 3 years, affects motor competence development.

Methods: This prospective cohort study included data on children aged 1.

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD), and imprinting defect (ID).

A nationwide survey of Vici syndrome in Japan.

Background: Vici syndrome (VICIS) is a congenital disorder characterized by agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive. This study aimed to elucidate the number of patients with VICIS, its clinical characteristics and relevant genetic information in Japan.

Methods: After developing diagnostic criteria for VICIS, we conducted a nationwide questionnaire-based survey of VICIS in Japan.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.

Body Size, Cerebral Blood Flow, Ambient Temperature, and Relative Brain Temperatures in Newborn Infants under Incubator Care.

Subtle changes in body temperature affect the outcomes of ill newborns. However, the temperature profile of neonatal brains remains largely unknown. In open-cot care, increased cerebral perfusion is correlated with higher superficial brain temperatures.

Underlying Disorders in Children With Infection-Related Acute Encephalopathy.

Background: Various factors contribute to the development of infection-related acute encephalopathy (AE) in children, such as infectious agents and chronic underlying disorders. We studied underlying disorders in children with AE to identify predisposing factors of AE.

Methods: We investigated underlying disorders or past histories in patients with two types of AE from the database in the Tokai area of Japan between 2009 and 2022: 204 patients with AE with reduced subcortical diffusion (AED) and 137 with clinically mild encephalopathy with a reversible splenial lesion (MERS).