Frontiers in Pediatrics最新文献

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase due to variants of the PLOD1 gene has been identified as a pathogenic cause of the disease. Vascular fragility in kEDS has rarely been reported. Here, we report a 15-year-old Chinese boy with kEDS-PLOD1 who presented with a superior mesenteric aneurysm and severe vascular complications. The patient underwent emergency hybrid surgery combining hemostasis by laparotomy and stent graft placement superior to the bleeding artery by endovascular intervention. The patient's presentation improved postoperatively. Unfortunately, the patient died despite medical intervention. Whole exome sequencing identified compound heterozygous variants in the patient's PLOD1 gene: a reported variant, c.1095C > T, and a novel variant, c.1262delC. The c.1262delC variant is a frameshift variant that results in a premature stop codon and loss of gene function. Overall, this case report further expands the genetic landscape of kEDS and suggests that vascular intervention in these patients requires individualized assessment of vessel function and local perfusion status.

Background: Extravasation and infiltration are preventable complications of intravenous therapy that can cause severe tissue injury in pediatric patients. Nurses play a critical role in prevention and early management, yet studies have shown that their knowledge and skills in this area are often insufficient. Simulation-based training has been shown to improve clinical competence; however, evidence specific to pediatric extravasation management is limited.

Methods: This quasi-experimental study employed a single-group pretest-posttest design. A total of 475 pediatric nurses were invited, 436 participated, and 399 were included in the final analysis after missing data excluded. A half-day, scenario-supported training program was developed by expert clinicians, combining theoretical lectures with low-fidelity, case-based simulation activities. Pre- and post-training scores were compared using nonparametric tests, with significance set at p < 0.05 and effect sizes reported. Knowledge was assessed using a validated 55-item test, and skills were measured through a four-station ObjectiveStructured Practical Examination (OSPE).

Results: Participants were predominantly female (84.7%) and held a bachelor's degree (87.5%). The majority (77.9%) had never received prior extravasation training, while 88.5% expressed a need for education. Knowledge scores improved significantly post-training (p < 0.001, r = -0.26, small effect). Skill scores showed a marked improvement (p < 0.001, r = -0.84, large effect). Subgroup analyses revealed no significant differences by gender or educational level. Nurses with 5-8 years of experience demonstrated greater knowledge gains, while those with prior training achieved higher skill improvements.

Conclusion: Scenario-supported training effectively improved pediatric nurses' competencies in extravasation and infiltration management, with the strongest effect observed in clinical skills. These findings underscore the importance of structured and repeated training, particularly for early- and mid-career nurses. Low-cost, scalable training models represent a practical and sustainable strategy to strengthen pediatric nursing practice and enhance patient safety in diverse healthcare settings.

Aim: Chronic diseases in childhood and adolescence represent a growing global challenge, with families often seeking complementary strategies beyond pharmacological treatment. This systematic review aimed to evaluate the efficacy and safety of dietary and oral supplements in pediatric chronic diseases.

Materials and methods: The review was conducted in accordance with PRISMA guidelines. A systematic search of PubMed, Scopus, Web of Science, and Cochrane Library was performed (2005-2025). Eligible studies enrolled children and adolescents (<18 years) with chronic diseases and assessed oral dietary supplements against placebo, standard care, or no intervention. Thirteen studies were included.

Results: The studies investigated autism spectrum disorder (ASD), functional gastrointestinal disorders, cystic fibrosis (CF), type 1 diabetes (T1D), bronchopulmonary dysplasia (BPD) and juvenile idiopathic arthritis. Interventions included probiotics, omega-3/6 fatty acids, vitamins, minerals, glutathione, Kre-Celazine® and Dimercaptosuccinic Acid (DMSA). Most supplements demonstrated measurable bioactivity, such as modulation of the gut microbiota, changes in inflammatory markers, or improvements in functional indices, but clinical benefits were often inconsistent or limited to subgroups. Safety was generally favorable for probiotics, polyunsaturated fatty acids, magnesium, zinc, and vitamin A, whereas DMSA chelation raised significant safety concerns.

Conclusions: Dietary and oral supplements show promise as supportive interventions in pediatric chronic diseases but cannot yet be recommended for systematic clinical use. Larger multicenter trials with longer follow-up, standardized endpoints, and predictive biomarkers are needed to identify responder subgroups and establish evidence-based recommendations.

Background: This meta-analysis investigates the association between maternal anxiety/depression during pregnancy and the development of eczema/atopic dermatitis (AD) in offspring.

Methods: A literature search was conducted across four electronic databases (PubMed, Web of Science, Embase, and the Cochrane Library) for studies published from database inception until July 2025. In this study, maternal depression and anxiety were defined as conditions physician-diagnosed or assessed with standardized scales during pregnancy. The primary outcome was the incidence of eczema/AD in the offspring.

Result: A total of 12 cohort studies were included in this meta-analysis. Pooled results indicated that maternal depression [odds ratio (OR) = 1.06, 95% confidence interval (95% CI) = 1.01-1.11, p = 0.015] or anxiety (OR = 1.11, 95% CI = 1.03-1.19, p = 0.005) during pregnancy was potentially associated with a higher incidence of offspring eczema and AD. Subgroup analysis revealed that there was a higher incidence of AD in offspring with maternal anxiety during pregnancy (OR = 1.24, p = 0.028), while no significant difference was observed in the incidence of eczema (p = 0.286). A higher incidence of offspring eczema/AD was observed in offspring of both Eastern (OR = 1.13, p = 0.043) and Western (OR = 1.34, p = 0.049) countries. Moreover, the incidence was higher in offspring when maternal anxiety was identified in the first (OR = 1.13, p = 0.036) or second (OR = 1.25, p = 0.010) trimester, whereas no significant difference was found for exposure in the third trimester (p = 0.152). For maternal depression during pregnancy, offspring had a higher incidence of AD (OR = 1.17, p < 0.001), while no significant difference was observed for eczema (p = 0.145). Furthermore, the incidence of offspring eczema/AD was higher in Eastern countries (OR = 1.14, p = 0.035), while Western countries group showed no significant difference (p = 0.111). Additionally, when analyzed by timing of exposure, the incidence was higher when depression was identified in the second trimester (OR = 1.30, p = 0.027), with no significant difference found in the third trimester (p = 0.163).

Conclusion: This study suggests that maternal depression/anxiety during pregnancy is potentially associated with the development of eczema/AD in offspring.

Background/aims: To investigate the risk factors for postoperative cough in children with tonsil and adenoid hypertrophy following tonsillectomy and adenoidectomy.

Materials and methods: A total of 182 children with tonsil and adenoid hypertrophy treated in the Department of Otorhinolaryngology at the Wujiang District Children's Hospital of Suzhou City between January 2024 and December 2024 were selected. They were divided into groups based on the presence or absence of postoperative cough for a comparative study.

Results: Statistically significant differences were found between the two groups regarding patient age, preoperative white blood cell levels, abnormal chest x-ray findings, and the presence of comorbid sinusitis or allergic rhinitis during the perioperative period. Multivariate logistic regression analysis identified younger age and comorbid sinusitis as independent risk factors.

Conclusion: Younger age and comorbid sinusitis are significant risk factors influencing the occurrence of cough in children after tonsillectomy and adenoidectomy.

Testicular microlithiasis is defined by the presence of five or more randomly distributed hyperechogenic microliths, each measuring less than 3 mm in diameter, observed in a single ultrasound scan. Histologically, testicular microlithiasis is characterized by multiple laminated calcifications within seminiferous tubules. The underlying cause of these calcifications is not yet fully understood. The exact prevalence of testicular microlithiasis in children remains uncertain and continues to be a topic of debate. These calcifications can occur either independently or in association with various benign conditions, malignant pathologies, or specific congenital disorders. Whether these associations are causal or coincidental remains unclear. The aim of this study is to review the prevalence of TM in children, with emphasis on its histological characteristics, underlying mechanisms, and contributing factors, and to investigate its association with testicular malignancy in order to propose a pragmatic follow-up approach based on current guideline recommendations.

Understanding functional brain development in neonates represents a critical frontier in neuroscience. Due to the high plasticity of the infant brain, early detection of functional abnormalities and timely interventions are essential to improving long-term neurodevelopmental outcomes. However, progress in this field has been limited by the constraints of conventional neuroimaging modalities. The emergence of functional near-infrared spectroscopy (fNIRS) has opened new avenues for neonatal brain research. This narrative review provides a comprehensive synthesis of recent advancements in fNIRS for neonatal brain monitoring. We aim to delineate the technical principles of fNIRS, critically evaluate its applications in developmental assessment and clinical care, and discuss its future translational potential. By consolidating this evidence, this review clarifies the unique value of fNIRS, addresses the need for a consolidated framework in this rapidly evolving field, and identifies key challenges to guide future research. As a non-invasive, portable, and motion-resilient optical imaging technique, fNIRS is particularly well-suited for bedside assessment and naturalistic observation of brain function. Relying on the principle of neurovascular coupling, fNIRS measures changes in cerebral oxygenation to detect neural activity, thereby providing novel insights into cognitive development, pathological processes, and therapeutic responses in neonates. With continuous advancements in technology and methodology, fNIRS applications in neonatology have expanded markedly, facilitating significant progress in areas such as sensory processing and clinical evaluation of brain injuries. This review provides a comprehensive analysis of recent developments in fNIRS for neonatal brain monitoring. It outlines the technique's foundational principles, technical characteristics, advantages and limitations, and explores its applications in developmental assessment, clinical surveillance, and disease diagnostics, while offering perspectives on its clinical utility and future directions.

Objectives: This report presents a rare case of congenital diarrhea and enteropathies in a Chinese infant caused by a heterozygous mutation in the GUCY2C gene.

Case presentation: A male infant was born prematurely with a history of polyhydramnios and prenatal intestinal dilation. He developed persistent abdominal distension, secretory diarrhea, metabolic acidosis, severe electrolyte imbalances, and failure to thrive. Whole-exome sequencing identified a heterozygous mutation in GUCY2C (c.2356T > C, p.Y786H), classified as likely pathogenic. The patient also exhibited intestinal malrotation but did not require surgical intervention. Management included total parenteral nutrition, transition to an amino acid-based formula, and extensive electrolyte supplementation. At the 72-month follow-up, he exhibited normal growth and complete resolution of gastrointestinal symptoms.

Conclusions: A heterozygous mutation in the GUCY2C gene (c.2356T > C) was identified as the cause of this rare congenital diarrheal disorder. These findings emphasize the essential function of genetic testing in children with chronic, treatment-refractory diarrhea and highlight the potential for excellent long-term outcomes with suitable supportive care.

Childhood obesity and vitamin D deficiency (VDD) are intertwined global health threats that amplify each other beyond their individual skeletal or metabolic consequences. This review synthesises a decade of clinical, translational and Mendelian-randomisation evidence to show that obesity drives VDD through volume dilution, adipose-tissue sequestration and metabolic associated steatotic liver disease (MASLD)-related hydroxylase dysfunction, while VDD in turn aggravates adipogenesis, leptin resistance and chronic low-grade inflammation, locking children into a self-perpetuating cycle. Meta-analysis of 12 randomised trials (n = 1,538) revealed that vitamin D supplementation improves insulin sensitivity and lowers systolic blood pressure only when baseline 25-hydroxyvitamin D (25(OH)D) is <20 ng/mL and systemic inflammation is modest; no consistent reduction in BMI or fat mass was observed. Obese youths require 2-3 times the standard dose to reach 30 ng/mL, yet incremental metabolic benefit plateaus near 4,000 IU/day and is lost when systemic inflammation is present. Precision-dosing algorithms incorporating VDR/CYP2R1/DBP genotypes and MASLD status are urgently needed. Multi-omic longitudinal trials should clarify the adipose-tissue threshold at which hepatic cytochrome P450 family 27 subfamily B member 1 (CYP27B1) becomes substrate-limited and evaluate the vascular safety of intermittent high-dose boluses before personalised supplementation is translated into routine paediatric practice.

Overcrowding in pediatric emergency departments (PEDs) is an increasing global challenge. While adult emergency medicine has developed several validated measures to assess overcrowding, pediatric-specific methods remain scarce. In recent years, new approaches have emerged, including the first predictive models capable of anticipating crowding before it occurs. This Mini-Review provides a narrative synthesis of recent conceptual and methodological developments in the measurement and prediction of overcrowding in PEDs, building on the literature published since 2021. It conceptually examines unidimensional metrics, multidimensional scores, and emerging predictive models, emphasizing the shift from retrospective assessment to temporally oriented approaches and the need for pediatric-specific validation and multicenter evaluation.