Translational pediatrics最新文献

[This corrects the article DOI: 10.21037/tp-2025-401.].

Background: Studies in adults have confirmed associations between ABO blood groups and diseases such as cardiovascular diseases and tumors. However, relevant research in children is lacking, and adult findings cannot be directly applied to children due to differences in disease spectra. Urgent research is needed to bridge this knowledge gap. Therefore, we conducted a retrospective study involving 36,285 children to investigate the relationship between ABO blood group and disease categories in children.

Methods: We retrospectively analyzed clinical data from 36,285 Rh-positive children treated at the Children's Hospital of Nanjing Medical University from January 2016 to March 2025. Data on sex, age, ABO blood group, and department of visit were collected. Diseases were categorized into 22 systemic diseases, including internal medicine and surgical conditions. Statistical analyses, including chi-square tests, network analysis, cluster analysis, and visualization tools (SPSS 26.0, R 4.2.3), were performed.

Results: Cluster analysis identified three characteristic groups: O blood type adolescents were prone to surgical diseases (enrichment +15.2%); AB blood type school-age/preschool girls were prone to various diseases (enrichment +22.6%); and A/B blood type young males were prone to burns, ear, nose, and throat (ENT), and hematological diseases (enrichment +18.3% and +16.9% respectively).

Conclusions: ABO blood groups are specifically associated with the distribution of different systemic diseases in children. Multi-center validation studies are needed before widespread application.

Background: Mycoplasma pneumoniae (MP) is a leading causative agent of community-acquired pneumonia (CAP) in children, with the incidence of severe MP pneumonia (SMPP) increasing in recent years. This study aimed to investigate the expression of miR-222-3p in pediatric MP pneumonia (MPP) and its correlation with inflammatory factors, as well as to explore its possible relationship with SMPP.

Methods: A total of 87 children with MPP and 43 healthy controls were enrolled in the study. MiR-222-3p levels were quantified by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), while serum interleukin (IL)-6 and tumor necrosis factor-alpha (TNF-α) levels were measured by enzyme-linked immunosorbent assay (ELISA). The correlation between miR-222-3p and inflammatory cytokines was analyzed, and the ability of miR-222-3p to distinguish SMPP was evaluated by receiver operating characteristic (ROC) curve analysis.

Results: The children with MPP exhibited significantly elevated levels of miR-222-3p, IL-6, and TNF-α compared to the healthy controls (P<0.05). Notably, miR-222-3p and IL-6 were observed to be differentially expressed between the SMPP and mild MPP cases. Combination of miR-222-3p and IL-6 had an area under the curve (AUC) of 0.882 for identifying SMPP. Additionally, a positive correlation was found between the miR-222-3p and IL-6 levels.

Conclusions: The expression of miR-222-3p is significantly up-regulated in pediatric MPP, and shows a correlation with disease severity, suggesting it may be a useful biomarker in the clinical assessment of SMPP.

Background: Every year, more premature infants grow into adulthood, yet while extensive research has focused on the risks associated with prematurity, information is scarce regarding the protective factors that can support mental health in these individuals. The aim of this study was to evaluate the impact of proxies for social and educational functioning on their mental health across different developmental stages (childhood, adolescence and adulthood).

Methods: In this 14-year developmental study, 50 premature infants were assessed using Achenbach's behavioral scales, including the Child Behavior Checklist (CBCL), Adult Behavior Checklist (ABCL), and Adult Self-Report (ASR).

Results: The findings of this exploratory study revealed that while most participants fell within the normative range, 10-20% displayed low social functioning proxies during childhood and adolescence. Notably, the social functioning proxies were significantly associated with internalizing and externalizing symptoms, as well as overall mental health, particularly during adolescence and adulthood. Furthermore, the educational functioning proxies emerged as a key protective factor in adulthood.

Conclusions: These results emphasize the importance of fostering strong social and educational functioning throughout life to mitigate mental health risks associated with prematurity. As an exploratory study, these findings suggest that further research is needed to confirm these relationships and enhance the generalizability of the results, with larger and more diverse samples potentially providing more robust insights.

Background: Childhood obesity represents a major global public health challenge. Its escalating prevalence poses significant risks to children's health and long-term development. While existing family-school collaborative interventions have demonstrated preliminary efficacy, the multifactorial etiology of obesity and the difficulty in sustaining outcomes highlight the need for further optimization of management models. We propose an innovative tripartite collaborative model, led by professional healthcare institutions to integrate family, school, and medical resources. This study aims to systematically evaluate the comprehensive effectiveness of this model in preventing and managing childhood obesity.

Methods: This is a two-arm, open-label, cluster-sampled interventional study with a matched design, based on the "Dietary intake, Regular exercise, Education, Assessment, and Monitoring" (DREAM) framework. Eligible children and adolescents will be clustered by school. A one-academic-year intervention will be conducted in two matched schools. The intervention group will receive a comprehensive DREAM intervention facilitated by the Family-School-Healthcare collaborative model, while the control group will maintain conventional practices without additional interventions. The primary outcome is the change in body mass index (BMI) from baseline. Secondary outcomes include changes in obesity prevalence, anthropometric measurements, body composition, and metabolic indicators.

Discussion: This study will implement and evaluate a novel Family-School-Healthcare collaborative management model, emphasizing the critical role of medical institutions in managing obesity as a chronic disease. Beyond BMI, the study will incorporate health-related metabolic indicators to provide a comprehensive assessment of the intervention effectiveness. The findings are expected to yield crucial evidence for the scientific prevention and control of childhood obesity, offering substantial theoretical and practical significance for the optimization of public health strategies.

Trial registration: Chinese Clinical Trial Registry (ChiCTR), ID: ChiCTR2300076418. Registered on 08 October 2023. Protocol version: 1.0.

Background: Omphalocele is a congenital anomaly requiring complex treatment. Existing evidence on the health-related quality of life (HRQoL) in omphalocele is limited by small sample sizes, inconsistent findings, and a lack of data from Chinese populations. This study aimed to quantify HRQoL in children with omphalocele using the Pediatric Quality of Life Inventory (PedsQL) in a relatively large patient cohort and to identify demographic and clinical factors associated with children's HRQoL.

Methods: We conducted a cross-sectional, questionnaire-based study among caregivers of children with omphalocele treated at the Children's Hospital, Zhejiang University School of Medicine in Hangzhou, China. In total, caregivers of 124 children were recruited and completed the questionnaire. HRQoL was assessed using the Chinese version of PedsQL Infants Scales (parent-proxy for infants/toddlers aged 1-24 months) and PedsQL Generic Core Modules (GCM) (parent-proxy for children aged 2-4 years). Additionally, demographic and clinical information were also collected via questionnaires. Differences in HRQoL scores across subgroups were assessed by two-independent-samples t-tests and one-way analysis of variance (ANOVA). Multivariate linear regression analysis was performed to identify the determinants associated with children's HRQoL.

Results: Among 124 children, the median age was 2.0 years, and 46.8% were girls. For children aged 1-24 months, the total score and scores of certain scales (i.e., physical functioning, physical symptoms, emotional functioning, cognitive functioning) were significantly lower in patients than scores in the healthy controls (P values <0.05) with the effect sizes ranging from 0.33 to 0.86. For children aged 2 to 4 years, the total score and the scores on three scales (i.e., physical, emotional, and social functioning) were statistically significantly higher in patients than in healthy controls (P values <0.05), with effect sizes ranging from 0.53 to 0.94. Age and the presence of other malformations were significantly associated with the total score of PedsQL GCM (P values <0.05).

Conclusions: The HRQoL of children under 2 years of age with omphalocele is lower than that of healthy children. With increasing age, the HRQoL of children with omphalocele improves, whereas the presence of additional malformations has a negative impact on their HRQoL.

Background: Non-pharmacological interventions have gained increasing recognition as preoperative educational tools aim at reducing preoperative anxiety (PA) in pediatric patients and minimizing the potential adverse effects of pharmacologic interventions. This study aims to compare the effectiveness of using video animation combined with verbal communication versus verbal communication alone during the preanesthesia visit on PA in pediatric patients.

Methods: A prospective, randomized, single-blinded, controlled trial was conducted in seventy patients aged 6-12 years scheduled for elective surgery under general anesthesia. During the preanesthesia visit, participants were randomly assigned to either Group VC (n=35), receiving video animation combined with verbal communication, or Group C (n=35), receiving verbal communication alone. On the day of surgery, participant's PA levels were assessed using the Thai-version of the modified Yale Preoperative Anxiety Scale (m-YPAS) in the holding area and upon arrival in the operating room. Parental satisfaction was also evaluated.

Results: In the holding area, the median m-YPAS score in Group VC was similar to that in Group C [28.3 (23.3, 33.3) vs. 28.3 (26.7, 36.7), P=0.26]. Upon arrival in the operating room, the median m-YPAS score in Group VC [28.3 (23.3, 36.7)] was lower than that in Group C [31.7 (28.3, 41.7)]; however, this difference was not statistically significant (P=0.52). Parental satisfaction was high in both groups.

Conclusions: Although statistical significance was not achieved, video animation combined with verbal communication showed a trend toward reducing PA and enhancing parental satisfaction, supporting its potential value as a non-pharmacological education tool for pediatric perioperative care.

Trial registration: This study was registered at the Thai Clinical Trial Registry (TCTR20221111005).

Background: The increasing survival of individuals with congenital heart disease (CHD) has established developmental intellectual disability (DID) as a major long-term concern, an association supported by extensive evidence. However, the precise global burden of DID in this population remains unquantified. This study therefore aimed to quantify this burden from 1990 to 2021 among children and adolescents with CHD using data from the Global Burden of Disease (GBD) 2021 study.

Methods: Data on prevalence, years lived with disability (YLDs), and DID rates were analyzed by gender, age, location, and severity. Temporal trends were assessed using estimated annual percentage change (EAPC). The study also examined associations with the Socio-Demographic Index (SDI), health inequalities, decomposition, and frontiers analysis to evaluate disparities and developmental influences.

Results: In 2021, there were 949,774.9 [95% uncertainty interval (UI): 744,157.7-1,126,344.0] children and adolescents with CHD and DID globally. YLD trends closely followed prevalence patterns, with the highest burden observed in children aged 0-4 years. Borderline DID was the most common form, comprising nearly 70% of cases, while profound DID, though less prevalent, contributed to over a quarter of total YLDs. The low-middle SDI regions reported the highest number of cases and YLDs, whereas low SDI regions had the highest prevalence rates. From 1990 to 2021, global prevalence and YLD rates declined, with the most significant reductions in low SDI regions. In contrast, high-middle SDI regions showed non-significant changes. A negative correlation was observed between SDI and disease burden, with persistent inequalities-particularly in low-middle SDI countries such as Afghanistan, where YLD rates were 150-180% higher than the optimal level.

Conclusions: In summary, our findings quantify the significant global comorbidity between CHD and DID from 1990 to 2021. This analysis reveals a substantial and inequitable health burden, which disproportionately impacts young children in resource-limited settings. These results underscore the need for integrated clinical surveillance and resource planning for this vulnerable population.

Background: Pediatric influenza infections that progress to prolonged multiple organ dysfunction syndrome (PMODS) carry a high mortality rate. The underlying molecular heterogeneity, particularly involving dysregulated autophagy pathways and the immune microenvironment, remains poorly characterized, hindering the development of targeted interventions. This study aimed to integrate transcriptomic profiling and machine learning to dissect autophagy-related gene (ARG) dysregulation, characterize the immune microenvironment, and identify clinical biomarkers associated with PMODS severity.

Methods: We analyzed the publicly available transcriptomic dataset GSE236877, comprising 191 pediatric samples from influenza patients: 38 with PMODS or who died, 27 who recovered from MODS (RM), and 126 who never developed MODS (NM). Differential expression analysis of ARGs was performed. Unsupervised consensus clustering was used to identify molecular subtypes within the PMODS group. Immune cell infiltration was quantified using CIBERSORT. A Random Forest (RF) machine learning algorithm was employed to prioritize key discriminatory genes, whose correlations with clinical parameters were subsequently assessed.

Results: Compared to NM samples, PMODS cases exhibited significant upregulation of CCL2, CTSB, HIF1A, and NFKB1, alongside downregulation of CASP1, CASP8, TNFSF10, and EIF2AK2. Consensus clustering stratified PMODS patients into two distinct molecular subtypes (C1 and C2). Subtype C1 was characterized by a hyperinflammatory signature, marked by elevated expression of CCL2 and increased infiltration of Macrophages M0. In contrast, subtype C2 displayed a profile of apoptotic activation, with upregulated TNFSF10 and significantly reduced Macrophages M0 infiltration. RF analysis identified CCL2, TNFSF10, and HIF1A as the top three genes for discriminating disease states. Their expression levels showed significant correlations with leukocyte counts and clinical disease severity scores.

Conclusions: This study reveals significant molecular heterogeneity within pediatric influenza-associated PMODS, delineating two distinct subtype-specific mechanisms: C1 hyperinflammation vs. C2 apoptotic activation. It identifies CCL2, TNFSF10, and HIF1A as key biomarkers linked to immune dysregulation and clinical severity. These findings provide a foundational framework for the development of subtype-stratified, precision management strategies for this critical condition.