Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are disorders of podocytes in the slit diaphragm. CNS manifests during the first three months of life, and INS between 3-12 months, with severe proteinuria due to mutations in the NPHS1 and NPHS2 genes. This study aimed to establish specific genotype-phenotype characteristics of CNS and INS in the North American population.

EA survivors face long-term morbidity after thoracotomy with adult outcomes largely uninvestigated. This study assessed musculoskeletal and pulmonary outcomes in adults who underwent neonatal thoracotomy for EA using real-time magnetic resonance imaging (rt-MRI).

Immunoglobulin A (IgA) binding gut bacteria may modulate necrotising enterocolitis (NEC). In infants <32 weeks gestation exclusively receiving their mother's own milk (MOM) who either did or did not develop NEC, we explored IgA concentration in MOM and infant stool.

Childhood health is shaped by environmental exposures during sensitive windows of development. Longitudinal pregnancy and child cohorts have been designed to establish links between environmental exposures and child outcomes. The majority of studies focus on single exposures or groups of exposures and a specific health domain. The emerging field of exposomics aims to capture the totality of environmental exposures and through a multi-omics approach identify the biological response that mediates environmental triggers of health outcomes. Neighbourhood-level and individual-level environmental variables are measured by multidisciplinary methods to capture the exposome. Exposomics is in its infancy, but thus far a few multi-cohort projects have put this concept into practice and implemented a comprehensive measurement of the exposome during prenatal and early postnatal periods to determine associations with child health outcomes. Early findings have highlighted that children are exposed to a distinct collection of exposures in the womb and after birth and these development-specific exposures are associated with distinct molecular signatures. Exposomics has also proven useful in identifying the most important environmental drivers of child health and potential sources. Thus, this emerging field has the potential to inform public health interventions that promote healthy environments and identify the most vulnerable children. IMPACT: Discusses the emerging field of exposomics as a comprehensive approach to investigating environmental drivers of child health. Highlights current efforts to study the early life exposome and key findings. Identifies the value, challenges and limitations in exposomic research in child health.

Necrotizing enterocolitis (NEC) is a severe gastrointestinal disease affecting neonates, especially preterm and very low birth weight infants. Recent studies highlight the role of the gut microbiota in neonatal health, with microbial dysbiosis linked to NEC onset. However, bibliometric analyses in this field remain relatively scarce. This study aims to conduct a comprehensive analysis of the literature related to gut microbiota and NEC published between 1996 and 2024, to outline the development of this research area, identify emerging trends, and provide insights for future investigations.

This study evaluated the longitudinal effects of annual PM exposure on asthma symptoms, lung function growth, oxidative stress, and airway inflammation in adolescents.

Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion (AESD) is a rare neurological disorder associated with infection, primarily diagnosed in Japanese children, characterized by biphasic seizures, restricted diffusion on magnetic resonance imaging (MRI), and neurological decline. We report an Italian case and provide a scoping review of cases published outside Japan in comparison with Japanese literature, using distinct sets of inclusion criteria as the reported incidence and quality of studies are different. Clinical and epidemiological characteristics are analyzed. Potential factors contributing to this unusual epidemiology are investigated. Our case (3-year-old girl) conforms to typical AESD features. AESD is very rarely reported outside Japan, where only 29 cases have been published (17 female, 2.6 ± 2.7 years). Their features closely resemble the Japanese patients. The only relevant difference is the infectious trigger distribution, with Human herpesvirus-6 (HHV6) predominantly reported in Japan (38.2%), but not in other areas. The morbidity of AESD extends beyond Japan, but it is probably underestimated with rare cases reported globally. Multicenter international studies are needed to clarify the AESD incidence around the world and their related genetic and environmental factors and to promote internationally shared diagnostic criteria and guidelines for acute encephalopathies including AESD.Impact AESD features are biphasic seizures, MRI restricted diffusion, and neuroregression. AESD is more common in Japan and very rare outside Japan. Clinical and instrumental features of AESD case diagnosed in Italy are reported. Review of Japanese and non-Japanese literature was performed. Genetics, underdiagnosis, underreporting, and environment may influence incidence.

While fetal hypoxia-ischemia is a known trigger for meconium aspiration syndrome (MAS), many infants develop MAS without it, suggesting other risk factors. We examined the association between MAS and the presence and severity of fetal inflammatory response (FIR) on placental histopathology.

Body weight status, including both underweight and overweight, has been associated with developmental risks, yet its impact on neurophysiological and executive functions remains underexplored. This study investigated neurophysiological and executive function differences among underweight (UW), overweight (OW), and normal-weight (NW) children and adolescents (aged 8-16 years).

In their recently online-published Review Article, El-Dib included multiple critiques of our Randomized Controlled Trial (RCT) of Whole Body Hypothermia in Preterm Infants 33-35 Wks Gestation. We agree that more data from larger studies may help to further assess safety and efficacy of therapeutic hypothermia (TH) for infants 35 wks GA or less, provided that such studies are rigorously designed, implemented and reported. Given the results of our trial, the efficacy and safety of hypothermia in this population has not been established. Responses to many of the issues they raise about our trial are included. For now, the results of our RCT remain the best available data regarding therapeutic hypothermia in this population. IMPACT: This letter responds to issues raised by previously published review article (El-Dib et al.) in this journal. Most of the issues raised that were not included in primary manuscript of our published RCT are addressed. Despite the limitations of our randomized, controlled trial, it remains the best available data regarding therapeutic hypothermia in 33-35 weeks gestational age infants with hypoxic-ischemic encephalopathy and does not support effectiveness.

Early identification of children at risk for metabolic syndrome (MetS) can reveal traits linked to cardiometabolic disease. We aimed to develop a simple, user-friendly tool to detect pediatric cardiometabolic risk using clinical, nutritional, and lifestyle data.

Volume ventilation is being adopted into neonatal transport practice despite limited evidence of efficacy. More infants completed transport with normal pCO when transferred on volume ventilation. Insights into the potential utility of volume ventilation to control pCO during neonatal transport. Evidence of the successful routine use of volume ventilation during neonatal transport. Guidance for the construction of prospective research into the benefits of volume ventilation in controlling pCO during neonatal transport.

Maternal hypercalcemia is a rare but potentially serious cause of late-onset neonatal hypocalcemia. Data on the clinical characteristics and outcomes of mother-baby couplets with maternal hypercalcemia and subsequent neonatal hypocalcemia remains scarce.