World Journal of Pediatrics最新文献

Background: Type 1 diabetes mellitus is a heterogeneous autoimmune disease with diverse characteristics between ethnicities and ages. Understanding this heterogeneity is essential for optimizing management and developing precision treatments. This study investigates the clinical, metabolic and immunological heterogeneity of type 1 diabetes mellitus in children across different ages of onset.

Methods: A retrospective analysis of 401 children newly diagnosed with type 1 diabetes mellitus at a single center from January 2009 to August 2024 was conducted. We compared the clinical characteristics of our cohort with others from different countries. Patients were categorized into three age groups: 6 months-5 years, 5-10 years and ≥ 10 years at diagnosis. Clinical, metabolic, and immunological features were compared among groups.

Results: The median cohort age was 8.58 years; 48.9% were male. Diabetic ketoacidosis occurred in 56.1% of patients, higher than in the Finnish and American cohorts. Most clinical characteristics are not significantly different among age groups. The 6 months-5 years group had a lower area under the curve (AUC) for C-peptide compared to the other age groups. The ≥ 10 years group was more likely to be thyroid antibody positive and have vitamin D deficiency. Immunologically, type 1 diabetes mellitus patients showed significantly increased counts of T lymphocytes, CD3 + CD8 + T cells and B lymphocytes, along with decreased interleukin-2 and increased interleukin-6 levels compared to healthy controls. Of note, the 6 months-5 years group had a higher CD4/CD8 ratio, which was negatively correlated with C-peptide AUC.

Conclusions: Significant heterogeneity in type 1 diabetes mellitus features exists across age groups. Early-onset patients showed poorer islet function and late-onset patients were more prone to metabolic complications. Collectively our study emphasizes the need for age-specific management strategies.

Background: Newborn screening (NBS) through disease biomarkers has significantly reduced severe outcomes of congenital disorders. Moreover, exploratory newborn genetic screening programs are increasingly being implemented. This consensus, developed by multidisciplinary experts, aims to standardize the combined screening of genes and biomarkers for neonatal diseases in China, balancing ethical, technical, and clinical considerations.

Data sources: This consensus synthesizes evidence from peer-reviewed literature (PubMed, CNKI, etc.) up to 2024 and integrates clinical experiences from multidisciplinary experts in neonatology, genetics, and laboratory medicine, focusing on disease biomarker-based NBS, newborn genetic screening, and the clinical utility of combined screening.

Results: The consensus defines principles for combined screening: (1) disease/gene selection: 154 disease-causing genes covering 67 inherited metabolic disorders (e.g., amino acid metabolism disorders, organic acid metabolism disorders), prioritized by treatability, onset age (< 5 years), and cost-effectiveness; (2) methodology: integrating dried blood spot biomarker analysis with next-generation sequencing-based targeted capture (coverage > 300 ×), validated by MLPA/Sanger and long-range sequencing for complex variants (e.g., CYP21A2, SLC25A13); and (3) operational workflow: standardized workflows for informed consent, sample collection/delivery, and result interpretation, with dual reporting of marker and genetic findings within 15 days. Positive cases require family verification and/or other genetic sequencing techniques.

Conclusions: This consensus establishes a practical framework for integrating marker and genetic screening, aiming to improve diagnostic accuracy and achieve rapid and effective interventions, thereby saving lives and reducing the occurrence of severe complications. Implementation requires interdisciplinary collaboration and ongoing quality control to maximize clinical utility.

Background: The consumption of alcohol by adolescents has deleterious effects on their health and cognitive functions. Adolescent alcohol consumption represents a significant public health issue. Up-to-date national surveys examining alcohol use among Chinese adolescents is lacking. This study aims to offer nationally representative insights into the prevalence and patterns of alcohol consumption among Chinese adolescents.

Methods: A school-based, nationally representative cross-sectional survey targeting middle and high school students (aged 12- < 19 years) was conducted using a multi-stage stratified cluster random sampling design in 2021. Self-reported questionnaires were used to collect data on the prevalence of drinking and drunkenness over lifetime, past year, and past month, early onset of drinking and drunkenness, alcoholic beverage types, drinking frequency, emotional motives during drinking episodes and drinking occasions and locations. Estimates were weighted for the complex sampling design.

Results: The survey revealed that 44.1%, 32.7%, and 11.2% had consumed alcohol in their lifetime, past year and past month respectively. Prevalence of drunkenness for the same periods was 12.1%, 5.9%, and 1.6%. Totally 31.2% of students reported alcohol use at age 13 or younger and 6.8% reported early drunkenness. The most consumed alcoholic beverages among past-year drinkers were beer (71.1%) followed by wine (69.4%). Adolescent drinking is often passive without emotional motives (36.0%), or motivated by joy (31.3%) or sadness (23.6%). Adolescent drinking primarily occurs during family gatherings (51.0%), with private homes being the most common drinking location (68.9%).

Conclusions: Alcohol consumption is prevalent among Chinese adolescents, increasing with school grade; percentages of drunkenness are relatively lower. Drinking and drunkenness in some time frames has significantly decreased. Of note, boys demonstrate higher percentages across almost all patterns of alcohol use. Adolescents display disparities in alcohol consumption based on their urban-rural residence and geographical location.

Background: Accurate final height prediction for girls with menarche is important, yet traditional Greulich-Pyle (GP) and Bayley-Pinneau predictions based on left hand-wrist bone age (BA) and target height demonstrate limited accuracy. This study aims to develop a method to more accurately predict final height.

Methods: One hundred and seventy-three girls with menarche from August 2018 to June 2023 were analyzed retrospectively. BAs in Greulich and Pyle and Hoerr knee atlases were evaluated. Knee radiomic features were extracted using PyRadiomics; least absolute shrinkage and selection operator regression was utilized to develop radiomic scores of the distal femur and proximal tibia. Ordinary least squares regression with stepwise selection was used to build a multilinear equation. This was further compared with traditional methods in fivefold cross-validation (CV = 5) using residual distribution and Bland-Altman agreement analysis.

Results: Height gain in our Chinese cohort after menarche was 8.94 ± 2.99 cm. A stepwise multilinear equation was built with height at menarche, BA of GP and radiomic score of the distal femur (R² = 0.733, F statistic = 115.1, P < 0.05). Compared with traditional methods, a multilinear equation displayed the lowest residuals (residual range: - 5.677 cm to + 6.444 cm) and best Bland-Altman agreement (the mean difference: - 0.01 cm, 95% limits of agreement: - 3.96 to + 3.93 cm).

Conclusions: A robust linear regression model that incorporates knee radiomic scores, BA of GP, height at menarche, and father's height demonstrated the best final height prediction in our cohort. This research is an innovative application of radiomic score of the distal femur to final height prediction. Further validation is warranted to test robustness across populations and scenarios.

Background: Pediatric inflammatory bowel disease (pIBD) often begins early in life, progresses rapidly, and is associated with impaired growth and delayed development. These challenges demand treatment strategies that address both intestinal inflammation and the broader developmental needs of children.

Data sources: This review summarizes current advances in small-molecule therapies for pIBD based on published clinical trials, real-world studies, and mechanistic investigations retrieved from PubMed and clinical trial registries. Special emphasis is placed on Janus kinase (JAK) inhibitors and sphingosine-1-phosphate (S1P) modulators, which represent the main translational research focus in pediatric IBD.

Results: JAK inhibitors such as tofacitinib and upadacitinib have demonstrated promising efficacy in pediatric patients with refractory disease, although their use remains off-label worldwide. Long-term safety concerns persist, including infection risk, developmental effects, and potential risks of malignancy or major adverse cardiovascular events. S1P modulators such as ozanimod are under clinical evaluation in children, but robust long-term data are still lacking. Emerging technologies such as single-cell and spatial profiling have begun to reveal age-dependent remodeling of gut immune architecture, emphasizing the importance of developmentally informed therapeutic approaches.

Conclusions: Small-molecule therapies offer a promising and mechanistically precise direction for the management of pIBD. Future progress will depend on age-specific clinical trials, physiologically based pharmacokinetic modeling, and biomarker discovery through integrated multiomics. Collaborative multicenter research is essential to optimize the safety and efficacy of these agents in children.