Translational pediatrics最新文献

Background: There was limited research comparing retinal nerve fibre layer (RNFL) involvement among different mitochondrial DNA (mtDNA) mutations associated with varying visual prognoses. This study aimed to observe and compare the thickness changes of RNFL among Leber's hereditary optic neuropathy (LHON) patients with G11778A, T14484C and G3460A mtDNA mutations.

Methods: A retrospective cross-sectional analysis was conducted on LHON patients with G11778A (189 eyes of 121 patients), T14484C (20 eyes of 10 patients), or G3460A (28 eyes of 15 patients) mutations, enrolled between July 2017 and December 2020. We also recruited age-matched healthy individuals as the healthy control group. Patients were grouped based on their mutation type and disease duration (<6, 6-12, and >12 months). RNFL thickness measurements were obtained for all quadrants and compared among the three mutation groups.

Results: During the subacute phase, the temporal quadrant RNFL thickness in LHON patients with G11778A, T14484C, or G3460A mutations was significantly reduced compared to healthy controls. In the dynamic phase, the RNFL thickness in all quadrants of G11778A or G3460A LHON patients was significantly thinned, except for the nasal quadrant in LHON patients with G3460A mtDNA mutation (P=0.29). As the disease progressed, RNFL thickness in all quadrants and average RNFL thickness were significantly thinner in all three mutation groups relative to controls, except for the nasal quadrant in T14484C mutation patients (P=0.10). Furthermore, during both the subacute and dynamic phases, RNFL thickness in all quadrants was thinner in G11778A and G3460A mutation patients compared to T14484C mutation patients.

Conclusions: The papillomacular bundle was the initial and preferential site of involvement in LHON patients across all mutation types. The pattern of RNFL involvement was similar among the three mutations: temporal quadrant thinning occurred first, followed by the inferior and superior quadrants, and finally the nasal quadrant. Patients with G11778A and G3460A mutations exhibited earlier and more pronounced RNFL atrophy compared to those with T14484C mutations.

Background: Persistent pulmonary hypertension of the newborn (PPHN) is a life-threatening emergency in neonatal intensive care. Traditional treatments such as cylinder-based nitric oxide (NO) delivery systems rely on large, fixed equipment, creating limitations during neonatal transport or treatment in primary hospitals, which may delay critical intervention. Moreover, neonates exhibit high physiological vulnerability, imposing stricter requirements on the safety and portability of therapeutic devices. Novlead Biotech in China has developed a novel portable inhaled nitric oxide (iNO) generator (PG-iNO), which shows promise in overcoming these obstacles. This study aims to assess the safety of PG-iNO for the treatment of PPHN using a descriptive study.

Methods: The data of seven newborns diagnosed with PPHN and having received PG-iNO from December 1, 2023 to January 31, 2024 were retrieved from medical records. Demographic and clinical features, vital signs, arterial blood gas, ventilation indicators, measurement of preductal and postductal oxygen saturation, mortality, and comorbidities were evaluated before and after the administration of PG-iNO therapy.

Results: All enrolled patients survived and reported few side effects during the administration of PG-iNO. A significant improvement in oxygenation index (OI), fraction of inspired oxygen (FiO₂), mean airway pressure (MAPaw), and arterial partial pressure of oxygen (PaO₂) was observed before and 48 hours after initiating PG-iNO therapy.

Conclusions: The PG-iNO demonstrates safety in the treatment of neonatal PPHN. However, large-scale, prospective trials are needed to further validate its long-term safety and efficacy, particularly in preterm infants.

Background: At present, there are many treatment options for childhood IgA vasculitis nephritis (IgAVN), but the optimal treatment method remains unclear, and high-quality evidence to guide treatment decisions is still limited. This study identifies the best drugs for childhood IgAVN via Bayesian network meta-analysis (NMA).

Methods: PubMed, Embase, Cochrane Library, Web of Science, CNKI, Wanfang, VIP, as well as Sinomed were comprehensively retrieved for pertinent randomized controlled trials (RCTs) examining various methods of treating childhood IgAVN with medication. NMA was enabled by R 4.2.2. The risk of bias was rated via the Cochrane Risk of Bias 2.0 (RoB 2.0). The effect size was estimated using the mean difference (MD), risk ratio (RR), or odds ratio (OR) and 95% confidence interval (CI). The effects of intervention methods were ranked using the surface under the cumulative ranking curve (SUCRA). The certainty of the evidence was examined via the Confidence in Network Meta-Analysis (CINeMA) approach. Possible publication bias was detected through funnel plots generated via Stata 18.0.

Results: This study encompassed 73 RCTs. In comparison to standard of care (Soc), steroid therapy demonstrated the most favorable overall efficacy in IgAVN children (RR =1.17, 95% CI: 1.02-1.34). Leukotriene (LT) receptor antagonists were the most effective in reducing urinary protein (UP) levels (OR =13.28, 95% CI: 9.12-17.45)..Other therapies excelled in specific parameters.

Conclusions: Steroids offer the most effective therapeutic approach for childhood IgAVN, though its safety profile needs further study. More research is required for clinical decisions.

Background: Children and adolescents with cerebral palsy (CP) are known to have higher dental caries prevalence due to interacting clinical, behavioral, and socioeconomic factors. Although caregiver burden and suboptimal oral health practices have been implicated, their relative contributions remain unclear. This study aimed to determine caries prevalence in children and adolescents with CP, assess caregiver burden, and identify key predictors of increased caries risk.

Methods: This cross-sectional analytical study was conducted across two hospitals in Kuala Lumpur. Clinical data, including the Gross Motor Function Classification System (GMFCS) levels and CP subtypes, were extracted from patient medical records. Dental caries prevalence was assessed using the Decayed, Missing, and Filled Teeth (DMFT)/decayed filled teeth (dft) index, while caregiver burden was measured using the Zarit Burden Interview. Binary logistic regression was used to identify predictors of dental caries prevalence.

Results: A total of 110 children and adolescents with CP and their caregivers participated in the study. The prevalence of caries in primary teeth (70.3%) was consistent with the national average (71.3%). However, for permanent teeth (77.3%), it was over twice the national caries prevalence (33.3%) in 12-year-old children. The Care Index was notably low for both primary and permanent teeth at 6.1% and 20.0%, respectively. On average, caregiver burden was mild to moderate. Binary logistic regression revealed that children with GMFCS levels IV and V were 25.1 times [95% confidence interval (CI): 4.54-138.90] more likely to exhibit dental caries than those at GMFCS levels I-III.

Conclusions: This study demonstrates that children and adolescents with CP experience high caries prevalence and unmet dental treatment needs. On average, the caregivers experience mild to moderate burden and severe motor impairment (GMFCS IV-V) is the sole key predictor of caries risk in children and adolescents with CP. Hence, the GMFCS classification serves as a reliable tool for stratifying caries risk in children and adolescents with CP. Targeted dental caries prevention, early intervention, regular monitoring, and multidisciplinary care involving pediatricians, rehabilitation teams and the pediatric dental team are imperative to improve oral health outcomes.

Background: Bronchopulmonary dysplasia (BPD) is a common respiratory complication in premature infants, in which pulmonary fibrosis will continue to lead to the long-term impairment of pulmonary function in children with BPD and seriously affect the quality of life. This study hopes to explore the changing trend of pulmonary fibrosis characteristics of chronic hyperoxia lung injury.

Methods: Newborn rats were randomly assigned to a room air (RA) group or a hyperoxia (HO) group and sampled at postnatal days (P) 3, 7, 14, 21, 28, and 42. Lung morphology was assessed using histological staining to evaluate alveolar development, collagen volume fraction (CVF), and myofibroblast distribution. Western blotting was used to measure protein expression levels of surfactant protein C (SPC), podoplanin (PDPN), cluster of differentiation 31 (CD31), and α-smooth muscle actin (α-SMA). Expression levels of fibrosis-related markers [α-SMA, Collagen I (Col I)] were evaluated at both protein and messenger ribonucleic acid (mRNA) levels using Western blot and quantitative real-time polymerase chain reaction (RT-qPCR), respectively. Additional RT-qPCR analysis was performed for fibronectin and connective tissue growth factor (CTGF).

Results: At P14, HO rats exhibited decreased radical alveolar count (RAC), increased mean linear intercept (MLI), and elevated CVF compared to RA rats. SPC, CD31, and PDPN protein levels were reduced, while α-SMA increased. Collagen deposition progressively increased, peaking at P42. Col I expression rose significantly at P21 and P42. Fibronectin mRNA peaked at P21, while CTGF mRNA increased from P7 and remained elevated through P21.

Conclusions: Pulmonary fibrosis in chronic hyperoxia-induced lung injury emerged by P14, peaked around P21, and stabilized thereafter. These findings offer insight into the temporal dynamics of fibrosis development in BPD and may help guide timing for therapeutic intervention.

Background: Shared decision-making (SDM) is a patient-centered approach to medical decision-making. In pediatric care, SDM supports children's rights to participate, aligns with the principles of family-centered care, and improves treatment adherence, satisfaction, and health results. Although research on pediatric SDM has expanded rapidly in recent years, current reviews do not offer a comprehensive overview of the field's development and emerging trends. This study aimed to identify research hotspots and collaboration patterns of SDM in pediatrics through bibliometric analysis, and to predict future trends.

Methods: All publications from 1999 to April 2025 in the Web of Science Core Collection (WoSCC) database were selected. CiteSpace analysis software was used to generate visualizations of global collaboration among countries, institutions, and authors. Research hotspots and frontiers of pediatric SDM were systematically summarized via keyword clustering and citation frequency analysis.

Results: A total of 419 publications were retrieved, originating from 283 institutions in 32 countries and authored by 502 researchers. The research hotspots in this field focused on "decision making" and "decision aid", with future studies likely to continue exploring the application of family-centered SDM in chronic and complex pediatric diseases.

Conclusions: This study reveals through CiteSpace analysis that pediatric SDM research centers on three main threads: parent-child collaborative participation, application of decision aid tools (DAs), and interventions for chronic diseases. However, issues such as regional research imbalance and fragmented collaboration exist. Future efforts should focus on establishing multi-center research networks, standardizing terminology, and deepening intelligent tool development to promote evidence-based practice of SDM and enhance decision-making quality.

The gut microbiome, a complex ecosystem of microorganisms that inhabit the gastrointestinal (GI) tract, is now understood to be a central regulator of pediatric health and development. This review discusses its centrality in GI and neurological outcomes, with a particular focus on the devastating effects of malnutrition. It also discusses how microbial homeostasis (dysbiosis), especially that induced by protein-energy and micronutrient deficiencies, interferes with nutrient absorption, enhances intestinal inflammation, and alters gut-brain communication. Dysbiosis is mechanistically connected to the pathogenesis and severity of other pediatric disorders, such as inflammatory bowel disease (IBD), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). The most important pathways of gut dysbiosis-related disease mechanisms. include the altered production of microbial metabolites such as short-chain fatty acids (SCFAs), impaired gut barrier integrity ("leaky gut"), and disrupted immune and neuroendocrine signaling. To address these issues, this article outlines potential therapeutic solutions that seek to restore microbial balance. Targeted probiotic and prebiotic supplementation, dietary interventions, and the emerging field of precision nutrition, which enables interventions to be tailored based on a child's individual microbiome and genetic makeup, are also mentioned as possible ways to improve the GI and neurological health of malnourished children. Learning how these interactions between the gut microbiome, nutrition, and the gut-brain axis (GBA). Work could revolutionize the development of new treatments for preventing and treating pediatric diseases caused by microbial imbalances.

Background: The fusion gene E2A::HLF (TCF3::HLF) is present in <1% of B-cell acute lymphoblastic leukemia (ALL) patients, mainly in older children and adolescents. Patients with E2A::HLF fusion B-ALL consistently have dismal outcomes, even after hematopoietic stem cell transplantation (HSCT). Chimeric antigen receptor T-cell (CAR-T) therapy and donor lymphocyte infusion (DLI) applied in this kind of disease have rarely been reported. In this case series, we will focus on the safety and effectiveness of CAR-T and DLI treatments. This may refine therapeutic strategies and improve survival for this high-risk subgroup.

Case description: In this case series, we review the clinical course of 4 pediatric patients with E2A::HLF fusion B-ALL. All four patients treated with Chinese Children Leukemia Group (CCLG)-2018-ALL protocol based on high-risk stratification. Two patients (case 1 and case 4) maintained non-remission after intensive therapy and then accepted CD19-CAR-T therapy. All four patients achieved complete remission before HSCT and were negative for minimal residual disease and E2A::HLF fusion in the bone marrow. One patient (case 3) succumbed to complication of HSCT. Two patients (case 1 and case 4) who accepted DLI treatment after HSCT were still alive. One patient (case 2) relapsed after HSCT. Although accepting CAR-T and DLI treatments after HSCT, she died due to primary disease recurrent relapse.

Conclusions: The combination of CAR-T-cell therapy before HSCT and pro-DLI treatment after HSCT may represent an effective strategy to improve outcomes in these pediatric patients.