Translational pediatrics最新文献

Background: Tumors with neurotrophic tyrosine receptor kinase (NTRK) rearrangements are rare in children, with an incidence rate of 3.1%. These tumors exhibit morphological and histological heterogeneity. Here, we report a rare case of pediatric scalp mesenchymal tumor with an NTRK rearrangement.

Case description: A 3-year-old girl presented with a red, asymptomatic scalp mass detected 3 months prior to admission. Computed tomography revealed a large subcutaneous soft tissue mass with clear boundaries in the midline region of the scalp, with heterogeneous density and numerous dilated blood vessels around it. The mass was surgically resected after implanting a scalp expander. Pathological examination revealed a mesenchymal tumor with NTRK rearrangement and negative surgical margins at the periphery and base. Immunohistochemistry (IHC) revealed the following profile: CD34 (+) [anti-CD34 antibody (RM2052)], partial S-100 (+) [anti-S100 beta antibody (EP1576Y)-astrocyte marker], pan-tropomyosin receptor kinase (pan-TRK) (+) [anti-pan-TRK antibody (EPR17341)], and smooth muscle actin (SMA) (+) [alpha-SMA monoclonal antibody (1A4)]. Subsequently, on testing the tumor for a solid tumor gene panel by fluorescence in situ hybridization, it was found to be positive for NTRK3 (15q) fusion. The patient has remained recurrence-free at the 1-year follow-up and continues to be monitored.

Conclusions: To the best of our knowledge, this is the first report of successful surgical excision of a pediatric scalp tumor with NTRK rearrangement. According to our research, this case represents the first reported successful surgical resection of a pediatric scalp tumor with NTRK rearrangement. This finding suggests that clinicians should pay attention to early diagnosis through molecular testing and recognize the feasible value of surgical resection in the treatment of this type of tumor.

Background: Respiratory distress syndrome (RDS) is commonly treated in preterm infants with surfactant and artificial respiratory support. However, their effects have been demonstrated in infants born before 30 weeks of gestational age, while there are no data on the efficacy of surfactant treatment and retreatment in the subgroup of moderately preterm infants (MPIs). We aimed to assess changes in oxygenation indices and RDS severity after surfactant administration in MPIs and to identify possible risk factors for the need for multiple doses of surfactant in these patients.

Methods: We conducted a retrospective study on 60 MPIs born between 30⁺⁰ and 33⁺⁶ weeks of gestational age who were affected by RDS and required surfactant treatment. Peripheral oxygen saturation (SpO₂)/fraction of inspired oxygen (FiO₂) ratio and arterial/alveolar partial pressure of oxygen (a/APO₂) ratio before and after the administration of the first and second surfactant doses were calculated. Clinical characteristics of infants who required one or more doses of surfactant were compared.

Results: A total of 48 infants (80%) received a single dose of surfactant, while 12 infants (20%) received multiple doses. Both the SpO₂/FiO₂ ratio and the a/APO₂ ratio significantly increased after the first and second doses of surfactant. However, we did not identify any clinical predictors for the need of surfactant retreatment in this population. Receiver operating characteristic (ROC) analysis indicated that the SpO₂/FiO₂ ratio measured 1 h after administration of the first dose is a significant predictor of the need for additional doses.

Conclusions: The first and second doses of surfactant improved the oxygenation indices and reduced the severity of RDS in MPIs. The post-surfactant SpO₂/FiO₂ ratio can be a useful adjunct in determining the need for additional doses of surfactant. These findings help further our understanding of the effects of surfactant treatment in MPIs.

Background: Epicutaneo-cava catheters (ECCs) are crucial for securing vital venous access in neonates, particularly in those with extremely low birth weight (ELBW). We aimed to formulate predictive equations for determining the appropriate insertion length of ECCs at various insertion sites by body weight in neonates.

Methods: Neonates receiving ECCs between January 2023 and June 2024 were included for this study. We extracted data from the electronic medical records including date of birth, gender, body weight, length, head circumference, gestational age at birth, insertion regions, ECC placement date, total catheter length, and actual ECC placement length. Linear regression analysis was conducted to evaluate the association between insertion length at various sites and body weight, which facilitated the development of predictive equations.

Results: In this study, we included 428 neonates who underwent the insertion of ECCs across seven distinct sites. We developed predictive equations for determining the insertion length based on body weight for each region. Scatter plot analyses demonstrated that these equations effectively differentiated across the various regions. The regression analysis yielded adjusted R² values ranging from 0.71 to 0.92, indicating a strong predictive capability.

Conclusions: In the current study, we formulated seven equations to predict the insertion length of ECCs at various insertion regions, utilizing body weight as the primary predictor. The equations demonstrate relatively good performance, which may enhance the success rate of ECC insertions and decrease the incidence of complications.

Background: Nocturnal enuresis (NE) is a common chronic condition in children. Although enuresis alarms and desmopressin are the first-line treatments recommended by clinical guidelines, 20-40% of affected children demonstrate inadequate response and require additional therapeutic interventions. β3-adrenoceptor agonists are emerging as promising alternatives to anticholinergics, offering a more favorable safety profile with a lower incidence of common side effects. This multicenter retrospective study aimed to evaluate the safety and effectiveness of vibegron in children with treatment-resistant NE (TR-NE) and compare different treatment strategies.

Methods: This retrospective observational study was conducted at 12 hospitals affiliated with the Japanese Society on Enuresis and Incontinence. It enrolled children aged 5-18 years who received vibegron (50 mg once daily) for refractory NE between November 2018 and December 2021. The median treatment duration was 245 (interquartile range, 126-484) days. The primary outcome was treatment efficacy, assessed by the change in the number of wet nights over 30 days from baseline to 1 month. Safety was evaluated by monitoring adverse events. Treatment response was defined using the International Children's Continence Society criteria. Patients were classified into an "add-on" group (vibegron combined with existing therapy) or a "switch" group (transitioned from prior anticholinergics to vibegron).

Results: Of the 387 children enrolled, 386 were included for safety analysis and 369 for efficacy evaluation. Four patients (1.0%) experienced mild adverse events that led to the discontinuation of vibegron, and all resolved promptly. Overall, 52.8% achieved a partial or complete response (CR) (≥50% reduction in wet nights), and 17.3% achieved a CR. The add-on group showed significantly greater improvements than the switch group (56.9% vs. 40.1% reduction, P<0.001; CR, 22% vs. 11%, P=0.006). Among the subgroups, the alarm addition subgroup showed the greatest reduction in wet nights (71.6%), while triple therapy also achieved high efficacy (61.6%).

Conclusions: Vibegron is a safe and effective option for pediatric patients with TR-NE. Add-on strategies-particularly triple therapy-were more effective than monotherapy switching, strengthening the incorporation of vibegron as part of multimodal treatment strategies. Given the retrospective nature of the study, prospective randomized trials are warranted to confirm these findings and optimize the treatment protocols.

Background: Rectourethral fistulae (RUFs) are common in boys with anorectal malformations (ARMs). Laparoscopically assisted anorectal pull-through (LAARP) is the preferred approach for treating high/intermediate imperforate anus RUF; however, its application for rectourethral bulbar fistula (RUBF) is contentious due to worries about the remnant of the original fistula (ROOF). Our primary objective is to present the surgical technique for transanal ligation of RUBF and to discuss its merits in mitigating urethral complications related to a ROOF for LAARP surgery.

Case description: Following the complete isolation of the distal RUF during LAARP surgery, a silk thread was introduced into the pelvic region through an anal tunnel within the established sphincter complex. This thread was used to encircle and securely ligate the RUF. This retrospective analysis encompassed four children with RUF who underwent transanal ligation during LAARP surgery between October 2019 and December 2022. We looked at patient demographics, perioperative variables, and the outcomes of the follow-up. Their median age was 65 (range, 52-115) days, the median duration of each procedure was 115 (range, 100-130) minutes. Postoperatively, the catheter was retained for 8 days. Hospital stay also lasted 8 days. In the follow-up patients had normal bowel and urinary tract function without complications such as ROOF, urethral tract injury, anal stenosis or rectal prolapse.

Conclusions: The LAARP surgical technique of transanal fistula ligation proved to be feasible and promising for treatment of RUBF. It enhances the precision of fistula ligation and can reduce the incidence of urologic complications.

Background and objective: Pediatric patients view hospitalization as an overwhelmingly negative experience, and this has implications in treatment adherence, patient-provider relationships, and overall health outcomes. Children should be active agents and collaborate with doctors in their medical treatments, and yet, they are frequently excluded in practice and research, suggesting that insight into improving their hospital stay is underexplored. The purpose of this literature review is to understand hospitalization stress in pediatric populations and make recommendations in enhancing the experience.

Methods: A comprehensive literature review was conducted in the PubMed database in July 2025 to first understand the pediatric hospitalization experience from the perspectives of children, caregivers, and healthcare professionals. After identifying central themes and areas of improvement, secondary searches were made within each theme for completeness of available data. Papers were considered if they focused on pediatric populations and in the English language.

Key content and findings: Results show that the built environment of hospitals may not adequately address the needs of children, leading to heightened stress and longer hospital visits. Play and art therapy often have positive impacts, though these services may be underutilized in hospitals or have unexpected negative effects. Children feel marginalized in communication from doctors, and both patients and caregivers feel frustrated with lack of information or unresolved concerns. Doctors may miss empathetic opportunities, compromising care outcomes and patient-provider relationships.

Conclusions: Children value developmentally appropriate physical spaces, play and art activities, and active involvement in their own treatment. Improving the hospitalization experience may lead to better healthcare outcomes through reduced psychosocial stress. Physicians are recommended to actively speak to children and assess their perspectives, provide toys and games, allow patients to modify their rooms whenever possible, and ask questions beyond the child's illness to demonstrate empathy. Future research should explore more narratives of hospitalized children, ways of incorporating patient preferences to the hospital, and developmentally-appropriate communication techniques.

Background: Bronchopulmonary dysplasia (BPD) is a common chronic respiratory complication in preterm infants. With the advancement of medical technology, the survival rate of many preterm infants with low gestational age (GA) has increased year by year, accompanied by a rising incidence of BPD. Currently, the pathogenesis of BPD is not fully understood, and there are no specific treatment methods. It is particularly important to make early predictions and take preventive measures for BPD. This study aimed to evaluate the early predictive value of serum interleukin-6 (IL-6) and procalcitonin (PCT) levels for BPD in preterm infants.

Methods: In total, 114 preterm infants with GA <32 weeks were enrolled. Infants who met the diagnostic criteria for BPD were assigned to the BPD group (n=57), whereas those who did not meet the criteria formed the non-BPD group (n=57). The BPD group was further categorized based on severity: mild, moderate, and severe. General conditions, comorbidities, complications, treatment outcomes, and maternal data were compared between groups. Serum IL-6 and PCT levels were measured on days 1, 3, and 7 after birth. Multifactorial regression analysis was conducted to investigate postnatal risk factors, and a logistic regression model incorporating clinical factors and biomarkers was developed to predict BPD.

Results: Among the 57 infants with BPD, 32, 22, and 3 had mild, moderate, and severe BPD, respectively. Invasive ventilation >7 days and late-onset sepsis (LOS) were significant risk factors for BPD (P<0.05). Serum IL-6 and PCT levels were significantly higher in the BPD group than in the non-BPD group on days 1 and 3 (P<0.05). The levels were also higher in the moderate/severe BPD groups than in the mild group (P<0.05). The area under the curve for IL-6 and PCT levels was higher on day 1 than on day 3. Moreover, the serum IL-6 levels were positively correlated with serum PCT levels in the BPD group on days 1 and 3. A BPD prediction model was constructed using four indicators (invasive ventilation >7 days, LOS, IL-6 and PCT on day 1), showing significant predictive value (P<0.05).

Conclusions: The predictive model combining serum IL-6 and PCT levels with independent clinical risk factors could enable early BPD prediction.

Background and objective: Craniopharyngioma, a rare brain tumor in children, is primarily managed through surgical resection, but it carries a high risk of postoperative complications. These patients often require intensive care unit (ICU) monitoring and specialized nursing interventions. This narrative review aims to synthesize evidence on ICU nursing strategies for pediatric patients after craniopharyngioma surgery, focusing on monitoring, complication management, pain control, nutritional and psychological support, and multidisciplinary collaboration.

Methods: We conducted a narrative review of literature published from 2010 to 2024 using PubMed. Keywords included "children", "craniopharyngioma", "intensive care unit", "postoperative care", and "nursing challenges". Studies were selected based on predefined inclusion and exclusion criteria. Ethical approval was not required.

Key content and findings: Analysis of included studies (total sample >1,200 pediatric cases across 12 studies) showed that visual function improvement was reported in up to 91% (range, 85-95%, n=342) of patients receiving structured postoperative monitoring. Diabetes insipidus (DI) occurred in approximately 36% (range, 30-45%, n=450) of cases, highlighting the need for vigilant electrolyte surveillance. Effective nursing interventions included early neurological assessment, strict input-output monitoring, multimodal pain management, enteral nutrition (EN) support, and family-centered psychological care. Multidisciplinary collaboration was consistently associated with reduced ICU length of stay and improved parent satisfaction.

Conclusions: This review underscores the importance of individualized, evidence-based ICU nursing care in improving postoperative outcomes for pediatric craniopharyngioma patients. Despite observed benefits, large-scale randomized controlled trials (RCTs) are still needed to validate specific nursing protocols.

Esophageal strictures (ES) are a significant clinical concern in pediatric esophageal diseases and substantially affect patients' quality of life. The causes can be classified as congenital, secondary, and dyskinetic types. While most ES cases are benign, clinical outcomes vary widely by etiology, necessitating personalized therapeutic strategies. Current approaches predominantly involve minimally invasive endoscopic interventions, including balloon or bougie dilation, stent placement, incisional therapy, and intralesional steroid injection. Refractory cases may require combining or alternating multimodal therapies or surgical intervention, warranting further attention from clinicians. Despite varying causes of ES, conservative management is generally preferred over surgery in children. Endoscopic dilation, using bougie or balloons, is the most frequently employed technique, with comparable safety and efficacy. For recurrent or refractory ES, commonly arising from caustic ingestion, surgical anastomosis, congenital malformations, or radiation-induced strictures, adjunctive options include intralesional drug injection, stent placement, and endoscopic incisional therapy. They remain a challenge for many endoscopists. This review summarizes advances in pediatric ES management. While endoscopic treatment in complex and refractory strictures remains challenging, comparison across relevant studies is limited by inconsistent definitions of endoscopic or clinical success metrics. Novel methods have been developed to optimize treatment for refractory strictures. However, further studies in pediatric populations are necessary to validate their efficacy as adjuncts to endoscopic dilation.