Translational pediatrics最新文献

Background: In recent years, arthrography-assisted fixation techniques have become more common in pediatric orthopedic surgery because they provide real-time intraoperative assessment of fracture alignment and overall joint congruency. This study aimed to descriptively analyze outcomes in two groups of patients: patients with Jakob type IIA lateral humeral condyle fractures (LHCF) treated with closed reduction and internal fixation (CRIF) using intraoperative arthrography (arthrography group, AG); and patients with Jakob type IIB LHCF treated with open reduction and internal fixation (ORIF) (control group, CG). Caution is used when interpreting outcomes due to the differences in fracture severity.

Methods: A total of 190 pediatric patients diagnosed with Jakob type II LHCF and treated between 2021 and 2023 were analyzed retrospectively. Jakob type IIA fractures (n=101) underwent CRIF with assistance from arthrography, and Jakob type IIB fractures (n=89) underwent ORIF. The outcomes evaluated included operation time (OT), intraoperative blood loss (IBL), length of hospitalization (LOH), pain (Visual Analog Scale; VAS), elbow function (Mayo Elbow Performance Score; MEPS), complications, and long-term prognosis. Postoperative imaging was obtained to confirm anatomic reduction.

Results: The AG had significantly shorter OT, less IBL, and less LOH than the CG (P<0.05), along with lower VAS scores on postoperative day 1 and higher MEPS on day 28. Long-term functions were similar between groups, and the rate of complications was similarly low, with a lower rate of poor prognosis in the AG. As the differences in severity of fracture between groups were intrinsic reasons for differences between the groups, they can be followed descriptively and cannot imply the superiority of treatment.

Conclusions: Arthrography-assisted CRIF may be a safe and feasible method to assist with treating some selected Jakob type IIA LHCF and offers some short-term reductions in pain. These findings are limited in their ability to be interpreted due to retrospective design, failures of group comparability, and no objective imaging confirmation, so caution should be taken into account. Further prospective controlled studies are warranted to validate these results.

Background: Very low birth weight (VLBW) poses a significant global health burden. Despite improved survival, the health-related quality of life (HRQoL) of VLBW survivors and their caregivers, particularly in China, where incidence is rising, remains largely unassessed. Therefore, we conducted this study aiming to assess and describe the HRQoL of children who were born with VLBW in China, as well as that of their parental caregivers, which will contribute to the limited body of evidence regarding the dyadic HRQoL of VLBW children and their caregivers in low- and middle-income settings.

Methods: A total of 241 parental caregivers were recruited from a children's hospital. HRQoL was measured using the proxy-reported Pediatric Quality of Life Inventory (PedsQL) Infant Scales and Generic Core Module (GCM) for children, and the PedsQL Family Impact Module (FIM) for caregivers. Statistical analyses included t-tests, analysis of variance (ANOVA), effect sizes, multivariate linear regression, and Pearson correlation.

Results: The median child age was 2.0 years and the median birth weight was 1,032.5 grams. For children aged 1-24 months, financial burden, home oxygen use, and parent-reported developmental problems were significantly associated with children's HRQoL (P<0.05). For children aged 2-7 years, developmental problems were significantly associated with HRQoL (P<0.05). Caregiver HRQoL was associated with child age, maternal employment, financial burden, oxygen dependency, and developmental issues (P<0.05). Child and caregiver HRQoL were significantly correlated (P<0.05).

Conclusions: The study highlights HRQoL profiles of VLBW children and caregivers, emphasizing modifiable factors such as maternal employment, financial strain, oxygen dependence, and developmental problems. These findings should inform targeted care strategies to improve outcomes for both groups.

Background: Choledochal cysts (CDCs) are common congenital biliary malformations in children. However, current research on whether cyst size links to postnatal clinical symptoms in prenatally diagnosed CDCs remains scarce and unclear. This study aimed to explore the predictive value of cyst size for the occurrence of clinical symptoms in patients with prenatally diagnosed CDCs.

Methods: A retrospective review of medical records was conducted for patients with prenatally diagnosed CDCs who were admitted to Fujian Children's Hospital between January 2018 and May 2025. The patients were divided into a symptomatic group (n=15) and an asymptomatic group (n=29) based on the presence or absence of clinical symptoms at the time of surgery. Univariate analyses were performed to screen factors closely related to clinical symptoms. Additionally, we focused on the role of cyst size (i.e., width and length) in predicting the development of CDCs related symptoms.

Results: A total of 44 patients were included in the study, with 15 patients in the symptomatic group and 29 patients in the asymptomatic group. The results of univariate analysis showed that patients with clinical symptoms had earlier time of prenatal diagnosis (P=0.02), higher proportion of Todani type IV (P=0.04), higher values of γ-gamma-glutamyl transpeptidase (γ-GGT) and direct bilirubin (DBIL) (both P<0.01). Both cyst length {57 [42, 77] vs. 34 [29, 42], P=0.002} and width {48 [23, 54] vs. 22 [18, 34], P=0.002} were significantly greater in the symptomatic group at preoperative ultrasound (POU). The area under the receiver operating characteristic (AUROC) curve of the preoperative maximum cyst length was 0.789, the best cut-off point was 44 mm, and the sensitivity and specificity were 73% and 79%, respectively. The AUROC of the preoperative maximum cyst width was 0.783, the best cut-off point was 36 mm, and the sensitivity and specificity were 73% and 81%, respectively.

Conclusions: Rapid cyst growth trend is suggestive of an increased risk of clinical symptoms. A cyst length >44 mm and width >36 mm indicates the possible onset of clinical symptoms. Dynamic assessment protocol integrating rapid cyst growth trend with quantified size cut-offs offers a reliable strategy for predicting CDCs-related clinical symptoms.

Fontan-associated liver disease (FALD) is a universal consequence of the Fontan circulation and a growing cause of morbidity. Clinical outcome stratification is difficult because conventional tests lack sensitivity. In this review, we aim to discuss current prognostic tools for FALD. Histology remains the reference standard, capturing the characteristic pericentral and bridging "reverse lobulation" pattern of fibrosis. However, the invasive nature of liver biopsy and susceptibility to sampling bias limit its use. Magnetic resonance elastography (MRE) provides whole-organ stiffness assessment with concurrent evaluation of splenomegaly and varices, yet stiffness thresholds are not standardized and may overestimate fibrosis in the setting of hepatic congestion. Serum and composite indices [e.g., aspartate aminotransferase to platelet ratio index (APRI), fibrosis-4 (FIB-4) index, Model for End-Stage Liver Disease excluding international normalized ratio (MELD-XI)] provide some limited prognostic information in FALD; however, there is a need for disease-specific models. Emerging work integrates imaging and laboratory data to build risk calculators such as the FALD and Fontan Liver Risk Score (FonLiver). Multicenter pediatric validation and outcome-based calibration remain major gaps. Future progress requires prospective, multicenter pediatric studies with harmonized imaging protocols and novel biomarkers. Such integration is essential to move FALD prognostication from descriptive observation toward predictive and ultimately preventative care, optimizing timing of intervention and associated transplant decisions for individuals living with Fontan circulation.

Background: Vitamin D has immunomodulatory functions that may influence allergic disease, while total immunoglobulin E (IgE) is a biomarker of allergic sensitization. Prior studies of serum 25-hydroxyvitamin D [25(OH)D] and IgE have been inconsistent. This study aimed to clarify their relationship in a large pediatric cohort.

Methods: We analyzed 9,126 children (age 1-18 years; median 6.0 years) at a tertiary pediatric center. Serum 25(OH)D and total IgE were measured by electrochemiluminescence immunoassay. Vitamin D status was defined as deficient (<30 ng/mL), insufficient (30-50 ng/mL), or sufficient (>50 ng/mL). Analyses included Spearman correlation, multivariable regression, restricted cubic spline (RCS), and stratification by age, sex, and season.

Results: Serum 25(OH)D and IgE were inversely correlated (r=-0.1443, P<0.0001), and this association was stronger in allergic (r=-0.2662) than non-allergic (r=-0.1354) children. Regression confirmed 25(OH)D as an independent negative predictor of IgE (β=-0.0081, P<0.0001). RCS analysis revealed a non-linear association between serum 25(OH)D and total IgE concentrations, with higher IgE levels predominantly observed at lower 25(OH)D concentrations and a less pronounced association at higher levels. Stratification revealed the strongest effect in children ≤6 years, comparable results by sex, and a stronger winter association. IgE was highest in vitamin D-deficient and lowest in sufficient groups (P<0.0001).

Conclusions: Serum 25(OH)D is inversely associated with IgE, with age- and season-dependent variation in this association. These findings highlight an association between vitamin D status and allergic sensitization at the population level and support further investigation, while not establishing causality or therapeutic benefit.

Background: Genetic testing guidelines for children in cardiac intensive care units (CICUs) remain limited despite a high prevalence of genetic diseases among this population. Advances in next-generation sequencing technologies, especially exome sequencing (ES) and genome sequencing (GS), enable more comprehensive genetic evaluations than traditional testing modalities such as chromosomal microarray (CMA). While testing recommendations exist for cardiomyopathies and arrhythmias, broad application of next-generation sequencing, especially ES/GS, across indications for admission to CICU has not been recommended amongst cardiology societies. We aimed to evaluate the diagnostic efficacy of ES/GS in critically ill pediatric patients with cardiac disease.

Methods: Retrospective chart review of patients who underwent clinical ES/GS in a quaternary hospital's pediatric CICU between January 2020 and August 2023. Patient demographics and clinical characteristics were collected and analyzed. Results were compared by test type, cardiac phenotype, and extracardiac anomalies status.

Results: Forty-five patients underwent clinical ES/GS, with median age at testing of 33 [7-905] days. Primary cardiac phenotypes included congenital heart disease (CHD), ventricular dysfunction, and arrhythmia. Diagnostic results were found in 20 patients (44.4%) with 18/20 (90%) linked to cardiac phenotypes. Diagnostic yield was not different among cardiac phenotype groups but was higher in patients with extracardiac anomalies. Notably, gene panels would have failed to make 36% of diagnoses made by ES/GS.

Conclusions: ES and GS provided high diagnostic yield in critically ill cardiac patients across various phenotypes. As next-generation sequencing technologies and interpretation capabilities mature, diagnostic abilities in pediatric cardiac disease will continue to advance.

Background: Respiratory tract infection in infancy can cause symptomatic wheezing or asthma later in childhood. In recent years, eosinophil-derived neurotoxin (EDN) has been proposed to play a role in the development of asthma, however, this fact remains unclear. Therefore, this study aimed to determine whether EDN is a biomarker to predict asthma following respiratory tract infections in infants.

Methods: From October 2021 to March 2022, we tracked children hospitalized for respiratory tract infections at the Chengdu Women's and Children's Central Hospital. All patients underwent medical history collection and EDN testing, and were followed up at 6 months, 1 year and 3 years post-discharge. Multifactor analysis was subsequently conducted using multivariate logistic regression and receiver operating characteristic (ROC) analysis.

Results: A total of 183 participants were enrolled in this study. Statistical data showed that EDN levels were significantly higher in the asthma group (P<0.001). Multivariate regression analysis revealed that EDN, number of wheezing within 6 months, and allergy history were independent risk factors for asthma development following respiratory tract infections in children. Further ROC curve analysis demonstrated that EDN has predictive value for asthma occurrence, and combining it with number of wheezing within 6 months and allergy history can further enhance its predictive efficacy.

Conclusions: EDN may be a useful biomarker to predict the development of asthma following respiratory tract infections in infants and could be used as a useful screening tool for asthma in young children.

Background: Artificial intelligence (AI) technologies are increasingly being applied in the field of pediatric surgery. Utilizing machine learning (ML) to analyze clinical case data, we can develop models for disease diagnosis and prognosis prediction. This study aims to explore whether AI can effectively process massive amounts of medical data, extract key information, and assist doctors in aspects such as disease diagnosis, surgical plan selection, and prognosis assessment.

Methods: The protocol of this study was registered with PROSPERO (CRD420251184780). We searched PubMed, Web of Science, and Scopus for studies published between February 2016 and June 2025 focusing on AI applications in pediatric appendicitis, intussusception, Hirschsprung's disease (HD), necrotizing enterocolitis (NEC), and biliary atresia (BA). PRISMA guidelines and Synthesis Without Meta-analysis (SWiM) guidelines were used.

Results: Models integrating multimodal data (such as clinical data, laboratory markers, and imaging) generally outperformed those utilizing single data sources. Some models performed at a level comparable to or exceeding that of experienced specialists in diagnosis, improving the diagnostic accuracy of junior physicians. Most included studies were retrospective with single-center designs, resulting in a generally high risk of bias.

Conclusions: Current research has demonstrated AI's potential to improve diagnostic accuracy, optimize treatment decisions, and enhance patient outcomes, while improvements are needed in areas such as bias risk control, model interpretability, and data quality. More high-quality, multicenter prospective studies are required to fully realize the comprehensive clinical translation of AI technology in pediatric surgery.