Translational pediatrics最新文献

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: There is consensus that non-contrast computed tomography (CT) image should be used for radiotherapy dose calculation. Although the enhanced CT can bring better target delineation for radiotherapy, it may also bring deviation to the Hounsfield unit (HU) values and furthermore dosimetry errors, especially in proton radiotherapy. Since the literature proposes that virtual non-contrast (VNC) CT can be used for photon radiotherapy dose calculation, this study aimed to investigate whether VNC can also be used for proton radiotherapy dose calculation, especially in children's craniospinal irradiation (CSI) proton therapy plans.

Methods: Five patients who underwent dual-energy computed tomography (DECT) for CSI CT simulation were retrospectively analyzed. During the arterial phase of the CT scan, the spinal volume was the clinical target volume (CTV) and organs at risk (OARs) were delineated. Meanwhile, a protective ring was created by expanding 3 mm around the CTV. Subsequently, these were transferred to both true non-contrast (TNC) images and VNC images generated from DECT. We generated the planning target volume (PTV) by a 2-4 mm isotropic expansion from the CTV. The Eclipse treatment planning system generated radiotherapy treatment plans for each patient, with dose-volume histograms (DVH) calculated based on the dose distribution. VNC-based plans were transplanted onto the TNC images to simulate the real in vivo dose distribution. The results for both VNC and TNC images were evaluated.

Results: During CT value measurement, the attenuation of the VNC images was lower than that of the TNC images. To further investigate this difference, a protective ring added 3 mm outside the target area can not only prevent dose damage caused by patient movement, but also enable a more detailed observation of changes in the isodose lines. Additionally, the volume difference between the CTV and prescribed dose was calculated for both plans. Analysis of the DVH curves of the patients revealed that the entire spinal cord radiotherapy plan had the largest difference. In the comparison of the TNC and VNC radiotherapy plans, the maximum doses differed in the doses covering 100% and 95% of the volume in the whole spinal cord plans by 8%.

Conclusions: Our results suggest that VNC imaging cannot replace TNC imaging for proton radiotherapy planning in patients with CSI.

Background: The lactate dehydrogenase-to-albumin ratio (LAR), a novel marker reflecting systemic inflammation and nutritional status, was investigated for its association with coronary artery lesions (CALs) in Kawasaki disease (KD).

Methods: A total of 231 pediatric patients with KD were stratified into the CAL group (n=35) and the non-CAL group (n=196). The CAL was defined based on the adjusted Z-score ≥2.0 of the coronary artery inner diameter according to body surface area. Demographic data and pre-treatment laboratory parameters were collected. Univariate analysis was used to screen for potential predictive factors, and multivariate logistic regression was used to analyze the influencing factors of KD complicated with CAL. The predictive performance was evaluated using the receiver operating characteristic (ROC) curve, and the area under the curve (AUC) was calculated.

Results: Univariate analysis revealed that the CAL group exhibited younger age, and significantly elevated levels of LAR and lactate dehydrogenase and higher proportion of incomplete KD compared to the non-CAL group (all P<0.05). Multivariate analysis confirmed LAR [odds ratio (OR) =1.152] and incomplete KD (OR =4.268) were independent predictive factors of CAL in KD. In the subgroup analysis of complete KD, LAR was remained significantly associated with CAL (P<0.05). ROC curve analysis identified the combined AUC of LAR and incomplete KD was 0.719 [95% confidence interval (CI): 0.629-0.810] and an optimal LAR cutoff of 6.97 (AUC =0.671, sensitivity =80.00%, specificity =53.10%). For complete KD, the optimal LAR cutoff for predicting CAL was 7.00, with an AUC of 0.662 (95% CI: 0.557-0.768).

Conclusions: LAR was an independent influencing factor for KD complicated with CAL. LAR could be utilized as an auxiliary diagnostic biomarker for CAL in KD, particularly in complete KD cases, offering a reference for precise KD management.

Background and objective: The pediatric intensive care unit (PICU) is a high-stress medical environment. Family-Centered Care (FCC), which ensures parental presence and participation, is recognized as the standard of practice to mitigate psychological distress and trauma in critically ill children. However, infection control mandates [most notably during the coronavirus disease 2019 (COVID-19) pandemic] and resource limitations often necessitate restrictive visitation policies, leaving children in an "unaccompanied" state. This separation from parents constitutes a significant deviation from the standard care model and poses a unique psychological risk. A systematic synthesis of the specific psychological impacts of this parental absence and adaptive strategies to effectively intervene within this context remains underdeveloped. This narrative review aims to analyze the primary psychological consequences of parental absence for children in the PICU and to explore the intervention strategies adapted to mitigate these effects.

Methods: We reviewed journal articles from the past 15 years (2010-2024) that analyze and discuss the psychological impact and intervention strategies of unaccompanied patients in pediatric intensive care units.

Key content and findings: Our analysis indicates that an unaccompanied state is a significant, independent risk factor for psychological morbidity in PICU patients, markedly exacerbating separation anxiety, fear, loneliness, and depressive symptoms, which may also impede physiological recovery. Effective interventions must focus on mitigating the trauma of separation. The core strategy identified is "Virtual Family-Centered Care" (e.g., re-establishing family connection and participation in rounds via video technology). Other critical interventions include alternative socio-emotional support from the healthcare team (especially Child Life Specialists), professional psychological therapies, and environmental optimization to reduce threat perception.

Conclusions: We conclude that while parental presence is irreplaceable, PICUs must adopt innovative interventions, particularly technology-assisted virtual connections, to protect the psychological well-being of unaccompanied children whenever visitation is necessarily restricted.

Background: Procalcitonin (PCT) elevation has been observed in non-infectious conditions. This study aimed to investigate the relationship between early-stage PCT levels and prognosis of acute necrotizing encephalopathy (ANE) in children.

Methods: We enrolled children diagnosed with ANE who were admitted to the pediatric intensive care unit of Beijing Children's Hospital and Henan Children's Hospital between January 1, 2018 and December 31, 2023. Patients were categorized into survival and non-survival groups based on their 28-day outcomes. The optimal early PCT cutoff value was determined using receiver operating characteristic (ROC) curve analysis.

Results: A total of 74 children with ANE were included. Viral pathogens accounted for 79.7% (59/74) of infections. Antimicrobial therapy was initiated in 17 patients (23.0%, 17/74) at admission. The 28-day mortality rate was 55.4% (41/74). The optimal cutoff value of PCT was 3.55 ng/mL (area under the curve =0.689). The proportion of patients with shock at admission was significantly higher in the PCT >3.55 ng/mL group than the PCT ≤3.55 ng/mL group (45.7% vs. 21.4%, P=0.04). Multivariate logistic regression analysis revealed that PCT >3.55 ng/mL and shock at admission were independent risk factors for 28-day mortality (odds ratio =4.414, 95% confidence interval: 1.193-16.333, P=0.03; odds ratio =52.741, 95% confidence interval: 6.224-446.925, P<0.001).

Conclusions: Early PCT >3.55 ng/mL was identified as an independent risk factor for 28-day mortality in children with ANE, and this should alert clinicians to the possibility of concurrent shock. The majority of PCT elevations were not attributable to bacterial infections in ANE patients.

Background: Chimeric antigen receptor T (CAR-T) cells have achieved breakthrough results in the treatment of refractory/relapsed leukemia in children. With the continuous development of research and increasing clinical application, infection events after CAR-T cell therapy have gradually attracted the attention of researchers. Lower respiratory tract infection (LRTI) events accounted for 19.2% of the total number of infection events and resulted in patient death. This study aims to investigate the risk factors of LRTI in children with leukemia who received CAR-T cell therapy and construct a risk predictive model.

Methods: The clinical data of children with leukemia receiving CAR-T cell therapy in a tertiary A children's hospital in Shanghai from November 2023 to December 2024 were retrospectively collected, and the independent risk factors for LRTI were analyzed, and a risk predictive model was constructed. The Hosmer-Lemeshow test and the area under the receiver operating characteristic (ROC) curve were used to evaluate the fitting degree and discrimination of the predictive model, and a nomogram was constructed to visualize the model.

Results: A total of 265 cases were included in this study, and the incidence of LRTI within 0-30 days after CAR-T cell therapy was 14.7%. The risk factors for developing LRTI were platelet count (PLT) <50×10⁹/L (X1), minimal residual disease (MRD) >20% (X2), dosage of dexamethasone greater than 10 mg (X3), and allogeneic CAR-T (X4), and the regression equation was: occurrence y (incidence of LRTI) = 1.027 × X1 + 1.079 × X2 + 1.187 × X3 + 1.096 × X4. Hosmer-Lemeshow test showed that χ² was 2.674 (P=0.95). The area under the ROC curve was 0.781 (P<0.001), the maximum Youden index was 0.468, the cut-off value was 0.139, the sensitivity was 76.9%, and the specificity was 69.9%.

Conclusions: In this study, a risk predictive model for LRTI in children with leukemia within 0-30 days after CAR-T cell therapy was constructed. The predictive factors were PLT <50×10⁹/L, MRD >20%, dexamethasone use greater than 10 mg, and allogeneic CAR-T.

Background: 16p13.11 microduplication syndrome is a rare genomic disorder caused by an extra copy of a small segment of DNA on the short arm of chromosome 16 at a specific location in band 13.11. The clinical presentation is highly variable. Some individuals are entirely asymptomatic, while others present with a spectrum of neurodevelopmental disorders.

Case description: We report two cases with 16p13.11 microduplication to investigate the genotype-phenotype correlations. Peripheral blood was collected from the two patients and their respective parents and all participants underwent whole exome sequencing. Bioinformatics analysis and pathogenicity assessment were performed for variants as well as next-generation sequencing coverage depth analysis to identify abnormal copy number regions. As a result, a 0.893 Mb duplication of 16p13.11 region (chr16:15380928-16274075) was identified in patient 1, while his father carried a 0.841 Mb duplication in the same region (chr16: 15380928-16221831). In Patient 2, a 1.39 Mb duplication of 16p13.11 region (chr16: 14927699-16317333)-inherited from his father-was identified, as well as a pathogenic heterozygous variant in PRRT2 (exon2: c.649dup, p.R217Pfs*8), which was inherited from his mother.

Conclusions: Our findings underscore the highly incomplete penetrance and phenotypic variability of 16p13.11 microduplication. Future research should focus on the pathogenic mechanisms, explore potential interactions with genes like PRRT2, and establish standardized long-term monitoring strategies for carriers-especially those with comorbid pathogenic variants-to enhance clinical management and genetic counseling.

Background: Multiple magnet ingestion in children can lead to severe complications, including obstruction, fistula, and perforation. Although surgery has traditionally been the preferred treatment, recent evidence suggests that endoscopy may be safe and effective in selected patients. We compared the clinical characteristics and outcomes of pediatric patients with multiple magnet ingestion treated by endoscopic versus surgical removal, and aimed to clarify which patients should be prioritized for an endoscopy-first approach.

Methods: A retrospective review of patients aged <18 years who ingested multiple magnets between May 2016 and August 2025 at two tertiary centers was conducted. The clinical data, imaging findings, treatment modalities, and outcomes were compared between the endoscopic and surgical groups.

Results: Thirty-one patients (mean age 4.39±3.46 years; 61.3% boys) were included. Ten patients underwent endoscopic removal (six by duodenofibroscopy and four by ileocolonoscopy), and 21 underwent surgery. Surgery was more common in symptomatic patients who presented late and in those with magnets located beyond endoscopic reach. In selected, early-presenting, asymptomatic patients, endoscopic removal was associated with shorter hospital stay, shorter fasting time, less antibiotic use, and lower rates of severe complications. All endoscopic procedures were performed under moderate sedation, whereas all surgical procedures required general anesthesia.

Conclusions: Endoscopy-first approach may be a safe and effective initial option for selected, early-presenting, hemodynamically stable children with endoscopically accessible magnets and no signs of high-grade obstruction or perforation, potentially avoiding unnecessary general anesthesia and surgery.