World Journal of Pediatrics最新文献

Background: Fragile X syndrome (FXS) is primarily caused by the expansion of CGG repeats in the 5' untranslated region of the FMR1 gene. Accurate detection of expanded FMR1 alleles is essential for timely diagnosis and management. Triplet-repeat primed PCR is the most widely used method for detecting FXS; however, it has limitations in detecting low DNA input (< 10 ng/μL) and low-level mosaicism (< 5%). This study aimed to develop an improved method for detecting FMR1 CGG repeat expansions, outperforming existing methods in efficiency, reliability and sensitivity.

Methods: We developed a novel four-primer PCR with capillary electrophoresis assay (FP-PCR/CE) and validated its performance in identifying and sizing FMR1 alleles using DNA standards and multi-center clinical samples (N = 1690). Comparative analyses were performed against the AmplideX FMR1 PCR/CE assay and Southern blot to assess the accuracy, sensitivity, and clinical reliability of this assay.

Results: The FP-PCR/CE assay demonstrated 100% concordance with DNA standards for CGG repeat sizing and mosaicism detection. It detected DNA input ≥ 2.5 ng/μL and mosaic alleles at a mass fraction as low as 1%. In clinical validation, FP-PCR/CE achieved 100% concordance in FMR1 allele characterization with both the AmplideX assay and Southern blot, while exhibiting higher sensitivity for detecting mosaicism. Additionally, the assay identified AGG interruptions within FMR1 alleles. The FP-PCR/CE assay also reduced testing time to under 7 h and lowered the cost to < $80 per test.

Conclusions: The FP-PCR/CE assay is a rapid, accurate, and cost-effective method for FMR1 CGG repeat analysis, offering improved sensitivity for mosaicism detection. Its scalability and reliability support its potential for broader use in FXS carrier screening, clinical diagnosis and research.

Background: We aimed to explore associations between the presence of pets at one and 4-5 years of age with internalizing and externalizing problems at 7-8 years.

Methods: Participants comprised 1893 families from the INfancia y Medio Ambiente (INMA) project. Information was collected on the presence of (1) any pet, (2) dogs, (3) cats, (4) birds or (5) other animals. Pet ownership was categorized as never, always, only at age 1 and only at age 4-5. Internalizing and externalizing problems were measured at ages 7-8 years through the Strengths and Difficulties Questionnaire, a Likert questionnaire on children's behavioural and emotional symptoms. Negative binomial regression models and Tukey's multiple comparison tests were used to analyse data sets. Five sensitivity analyses were performed.

Results: Families that always owned a pet made up 24.4% of the sample. In addition, 11.5%, 4.5%, 3.8% and 17.6% of the families owned a dog, cat, bird or other animal, respectively. The median (P25-P75) for internalizing problems was 3 (1-5) and 5 (3-8) for externalizing problems. Owning a cat only at age 4-5 increased mental health problems: relative rate ratio (RRR) [95% confidence interval (CI)] 1.37 (1.05-1.79) for internalizing and 1.26 (1.02-1.56) for externalizing. Always having other animals was a protective factor for internalizing problems with an RRR of 0.80 (0.66-0.96). These associations remained after multiple comparison testing and sensitivity analyses.

Conclusion: Owning a cat only at 4-5 years of age was linked to more internalizing and externalizing problems, whereas always having other animals was a protective factor against internalizing problems.

Background: Immunoglobulin A vasculitis (IgAV) is the most common cause of systemic vasculitis in childhood. Due to the continued use of the disease name "anaphylactoid purpura" in China, several misunderstandings have arisen in clinical practice and treatment regimens differ widely. In addition, new research and evidence-based data have grown. The Subspecialty Group of Immunology, Society of Pediatrics, Chinese Medical Association and the Chinese Alliance of Pediatric Rheumatic and Immunologic Diseases initiated an update of guidelines for the diagnosis and management of childhood IgAV. The aim therefore was to provide agreed consensus recommendations for diagnosis and treatment for children with IgAV.

Methods: This study utilized the Delphi technique to develop an evidence-based expert consensus for childhood IgAV. We conducted a systematic literature review to retrieve evidence, which was graded using GRADE (Grading of Recommendations Assessment, Development, and Evaluation) criteria. Two rounds of Delphi voting and a consensus meeting involving 23 experts were conducted. Recommendations were accepted when ≥ 75% of experts agreed.

Results: In total, five recommendations for diagnosis, six for treatment, one for prognosis, and two for health education for pediatric IgAV were accepted. Diagnostic recommendations included the use of the European Alliance of Associations for Rheumatology/Pediatric Rheumatology International Trials Organization/Pediatric Rheumatology European Society-endorsed Ankara 2008 classification criteria for IgAV diagnosis. In addition, appropriate use of imaging, gastrointestinal endoscopy, skin biopsy, and kidney biopsy are recommended. Kidney biopsy is recommended for children with IgAV presenting with nephrotic syndrome/nephrotic-range proteinuria, reduced estimated glomerular filtration rate, acute nephritis syndrome, or persistent moderated/mild proteinuria. Treatment recommendations involved indications for glucocorticoid use, immunosuppressant use, and intravenous immunoglobulin use. It also addressed the inappropriate use of prophylactic glucocorticoid treatment and recommended against routine employment of plasmapheresis. Health education placed emphasis on the inappropriate use of anti-anaphylactic treatment and proffers dietary suggestions.

Conclusions: This guideline provides evidence-based recommendations for the diagnosis and management of IgAV in children. This will facilitate improved and standardized care.

Background: Hyperandrogenism represents a prevalent yet diagnostically challenging endocrine condition in adolescents, with polycystic ovary syndrome (PCOS), non-classic congenital adrenal hyperplasia, and androgen-secreting tumors constituting the most common etiologies. The physiological overlap with normal pubertal development creates significant diagnostic complexity, necessitating evidence-based approaches tailored to this unique population.

Data sources: This narrative review synthesizes evidence from a comprehensive literature search (PubMed/Scopus/Web of Science/EMBASE/Cochrane, 2000-2025) evaluating diagnostic and therapeutic approaches for adolescent hyperandrogenism. We prioritized clinical practice guidelines (including 2023 international PCOS guidelines), randomized controlled trials, and large cohort studies (n ≥ 50), excluding conference abstracts and non-peer-reviewed sources. Data extraction focused on diagnostic accuracy, treatment efficacy, safety profiles, and quality-of-life outcomes across 122 included studies.

Results: Current diagnostic frameworks demonstrate critical limitations in adolescent populations, particularly regarding age-specific biochemical cutoffs (testosterone, dehydroepiandrosterone sulphate, and 17-hydroxyprogesterone) and imaging interpretation. While combined oral contraceptives remain first-line therapy, emerging data highlight both metabolic risks (particularly with long-term use) and the potential of insulin sensitizers such as myo-inositol. Psychological comorbidities (anxiety, depression) are prevalent (38%-45% prevalence) yet are frequently under-addressed in clinical management. Key knowledge gaps persist regarding optimal (1) diagnostic thresholds for diverse ethnic groups; (2) longitudinal safety of hormonal therapies; and (3) integrated mental health interventions.

Conclusions: Adolescent hyperandrogenism demands multidisciplinary management involving endocrinologic, gynecologic, dermatologic, and psychological expertise. Future research must prioritize (1) validated age- and puberty-stage-specific diagnostic criteria; (2) safety/efficacy data for emerging therapies; and (3) standardized protocols for mental health screening. This synthesis provides a framework for evidence-based, individualized care while highlighting urgent research priorities.

Background: Carbapenem-resistant Enterobacteriaceae (CRE) infections can pose a significant risk following pediatric liver transplantations. This study aimed to identify risk factors for CRE infections and develop prediction models for pediatric recipients.

Methods: This study enrolled pediatric patients who underwent liver transplantation between 2017 and 2023. Risk factors for CRE infection were identified using logistic regression analysis. Prediction models were constructed using a training cohort and validated using internal and external validation cohorts. Predictive performance was assessed using receiver operating characteristic curves and area under the curve (AUC).

Results: CRE intestinal colonization before liver transplantation, bile or intestinal leakage and respiratory ribonucleic acid virus infections were independent risk factors for CRE infection after pediatric liver transplantation. Our prediction model comprising all three factors achieved AUC values of 0.724 and 0.738 in the training and internal validation cohorts, respectively. The AUC of an additional model constructed using CRE intestinal colonization and bile or intestinal leakage achieved 0.738 and 0.828 in the internal and external validation cohorts, respectively. Two nomograms were constructed.

Conclusions: Both nomograms accurately predicted CRE infection after liver transplantation. They can facilitate the adoption of essential protective measures in pediatric liver transplant recipients.

Background: The first five years of life are sensitive periods for neurodevelopment. Poor maternal metrics of cardiovascular health may influence offspring neurodevelopment. Previous studies focused only on one or two metrics, or different time window. This study is aimed to investigate the effects of combined cardiovascular health metric exposure during pregnancy on the neurodevelopment of offspring during crucial periods.

Methods: A total of 1007 mother‒child pairs recruited from 2013 to 2016 from the Shanghai Birth Cohort were included. Five maternal cardiovascular health metrics at 28 weeks of gestation were collected. Offspring neurodevelopment at 2-3 years and 4-5 years was evaluated with the Bayley-III and Wechsler preschool and primary scale of intelligence, fourth edition (WPPSI-IV), respectively.

Results: After adjusting for confounders, the scores for cognition and language at 2-3 years significantly increased by 1.63 [95% confidence interval (CI) 0.42-2.83, P = 0.008] and 0.84 (95% CI 0.005-1.67, P = 0.049) per one-point higher maternal cardiovascular health score, respectively. After false discovery rate adjustment, the associations were preserved in the cognitive domain. Similarly, each one-point higher maternal cardiovascular health score was associated with an increase of 0.92 (95% CI 0.16-1.68, P = 0.018) and 0.71 (95% CI 0.01-1.40, P = 0.047) in the visual space index and working memory index scores at 4-5 years, respectively, but with an false discovery rate-adjusted P > 0.05; in the sex-stratified analysis, the visual space index scores significantly increased (β = 1.47, 95% CI 0.38-2.56, P = 0.009), regardless of false discovery rate correction. In addition, each one-point higher maternal cardiovascular health score reduced the relative risk of suboptimal development in the visual space index domain by 0.83 (95% CI 0.70-0.99; P = 0.041) in female offspring despite the non-significant after false discovery rate adjustment.

Conclusions: Our study provides novel evidence that maternal cardiovascular health during pregnancy is associated with offspring neurodevelopment within the first five years of life and that female offspring appear to derive greater benefit from higher maternal cardiovascular health scores. The potential role of maternal cardiovascular health in identifying risk of neurodevelopmental delay in clinical practice needs to be further explored.

Background: The patterns of cancer burden in children, adolescents and young adults are distinct from those in the general adult population, underscoring the importance of developing targeted research and interventions. Thus, we analyzed global, regional, and national cancer mortality trends via the World Health Organization (WHO) Mortality Database among children aged 0-14 years and adolescents and young adults aged 15-34 across 77 WHO Member States.

Methods: Age-standardized country-specific cancer mortality rates (deaths per 100,000) and years of life lost between 1990 and 2021 were estimated via a locally weighted scatterplot smooth curve. We analyzed the associations between socioeconomic indices and mortality rates for 21 types of cancer. Furthermore, we conducted a decomposition analysis to understand the factors influencing mortality rates for these 21 types of cancer.

Results: Between 1990 and 2021, the age-standardized cancer mortality rate decreased from 12.35% [95% confidence interval (CI) 11.81%-12.88%] to 4.83% (95% CI 4.12%-5.54%) by - 3.29% per year. However, progress in reducing death rates has been heterogeneous in terms of country income, cancer site, and geography. In particular, the decrease in burden was most pronounced in North America; however, cervical and testicular cancer mortality is elevated in Africa, Latin America, and the Caribbean. While the major contributors to children's cancer mortality (leukemia, brain, and bone tumors) have remained unchanged for the past three decades, a significant decrease in respiratory tract cancer and an increase in colorectal cancer have led to a transition in the cancer profile in adolescents and young adults. Additionally, infection-related cancers are inversely correlated with socioeconomic indices; notably, colorectal cancer appears to have no correlation with these indices. We also revealed significant changes in mortality trends during the COVID-19 pandemic, which were more pronounced in children. Finally, a decomposition analysis revealed that the decrease in the number of cancer deaths worldwide between 1990 and 2021 may be attributed primarily to age-specific mortality rather than population growth or aging.

Conclusions: From 1990 to 2021, a significant decreasing trend in cancer mortality in the young population, especially in high-income countries, was observed. However, progress in reducing death rates has been heterogeneous by country income, cancer site, and geography, indicating disparities in control efforts across countries. Future studies are needed to address the exposures responsible for the heterogeneity of cancer burden and the changing cancer profile in this age group.