Frontiers in Pediatrics最新文献

Objectives: To develop and validate a nomogram based on dynamic liver function indexes for predicting native liver survival (NLS) in children with biliary atresia (BA) at 2 years post-Kasai surgery, providing clinicians with a basis for individualized treatment decisions and optimizing early intervention strategies for high-risk children.

Methods: Children with type III BA were categorized by their 2-year NLS status. Univariate and multivariate logistic regression analyses were performed to identify predictors of NLS and to construct a nomogram model. Model performance was evaluated using internal bootstrap validation (1,000 resamples) and a training-test split (7:3), with discrimination assessed by the area under the receiver operating characteristic curve (AUC) and calibration by calibration curves.

Results: A total of 134 children with type III BA were included. Univariate analysis identified significant associations between prognosis and the following: age at surgery, jaundice clearance failure, liver fibrosis stage, and 3-month postoperative levels of gamma-glutamyl transpeptidase (GGT), serum albumin (ALB), and aspartate aminotransferase and platelet ratio index (APRI) (all P < 0.05). Multivariate analysis established these independent predictors: liver fibrosis stage F4 (OR = 3.418, 95% CI: 1.745-6.695), APRI at 3 months (OR = 2.285, 95% CI: 1.175-4.445), age at surgery (OR = 1.773, 95% CI: 1.192-2.637), GGT at 3 months (OR = 1.942, 95% CI: 1.211-3.117), ALB at 3 months (OR = 0.948, 95% CI: 0.916-0.981), and jaundice clearance failure (OR = 2.437, 95% CI: 1.275-4.657). The resulting nomogram demonstrated stable performance across age subgroups (AUC = 0.926 for ≤60 days; AUC = 0.867 for >60 days). In the training set, the AUC was 0.872 (95% CI: 0.813-0.931), with sensitivity of 90.7% and specificity of 78.8%. The model showed excellent generalizability in the independent test set (AUC = 0.971).

Conclusions: This study developed and validated a nomogram integrating dynamic liver function indicators, effectively predicting 2-year NLS in children with BA. The model provides a reliable quantitative basis for individualized treatment decisions and early intervention, with strong clinical applicability, particularly in resource-limited settings. It offers a foundation for optimizing early intervention strategies for high-risk children.

Background: Primary ciliary dyskinesia (PCD) is associated with ventilation defects and heterogeneous impairment of pulmonary function. Spirometry alone may underestimate PCD severity and complexity. This study aimed to evaluate spirometry, multiple breath washout (MBW), and impulse oscillometry (IOS) in children with PCD and healthy controls.

Methods: In this cross-sectional, prospective study, participants included children aged 6-18 years with PCD and healthy age-matched controls. Pulmonary function tests using MBW, IOS, and spirometry were conducted on the same day for all participants.

Results: Thirty-two children with PCD (cwPCD) (median age 16.5 years) and 44 age-matched healthy controls (median age 15.7 years) were studied. PCD was associated with lower forced expiratory volume in 1 (FEV1) percent predicted (pp), forced vital capacity (FVC) pp, FEV1/FVC, reactance 5 (X5); as well as higher resistance 5 (R5), R10, R15, R20, resonance frequency (Fres) and lung clearance index (LCI) 2.5% mean values (p < 0.05 for all). Abnormal LCI 2.5% was found in 46.5% of patients with predicted FEV1 pp > 80%. Significant inverse correlations were observed between LCI 2.5% and FEV1 pp (p < 0.001, r: -0.62), FVC pp (p = 0.004, r: -0.49), FEV1/FVC (p = 0.002, r: -0.52) in PCD patients.

Conclusion: This is one of the few studies comparing MBW, IOS, and spirometry in cwPCD. The study has shown that there are significant differences in spirometry and MBW between cwPCD and healthy controls. MBW can detect airway anomalies earlier than spirometry and may be used in follow-up as an alternative pulmonary function test in cwPCD.

Introduction: Wilms tumor is the Most common renal malignancy in children, but bilateral Wilms tumor (BWT) is rare and poses competing priorities for cure and renal preservation. Neoadjuvant chemotherapy followed by nephron-sparing surgery is standard, yet optimal timing when resistance emerges remains challenging. This case describes advanced BWT with secondary chemotherapy resistance and hepatic capsular involvement, successfully managed with timely, aggressive bilateral nephron-sparing surgery and liver capsule resection.

Case presentation: A 5-year-old girl presented with progressive, painless abdominal distension and large, firm bilateral flank masses. Abdominal MRI showed large intrarenal tumors in both kidneys without metastases. After six months of neoadjuvant chemotherapy, initial partial response was followed by interval regrowth. She underwent single-stage bilateral nephron-sparing surgery with right partial nephrectomy plus en bloc liver capsule resection and left partial nephrectomy with reconstruction and nephrostomy. The patient is currently disease-free on follow-up.

Discussion: Bilateral Wilms tumor represents a minority of cases and carries a substantial lifetime risk of end-stage renal disease. Protocols favor neoadjuvant chemotherapy to facilitate nephron-sparing surgery within 6-12 weeks. In this patient, secondary chemotherapy resistance with predominant stromal maturation supported proceeding to surgery rather than intensifying therapy. Successful single-stage bilateral nephron-sparing surgery with negative margins avoided dialysis and transplant despite extensive bilateral disease and hepatic capsular extension.

Conclusion: This case demonstrates that even in bilateral Wilms tumor complicated by secondary chemotherapy resistance and hepatic capsular involvement, aggressive nephron-sparing surgery can achieve disease control while preserving renal function. Prolonged oncologic and renal surveillance is warranted given the recognized risk of late renal events.

Background: Ataxia telangiectasia (AT) is a rare autosomal recessive genetic disorder caused by variants in the ataxia-telangiectasia mutated (ATM) gene. AT is characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility, and radiosensitivity. This report presents a case of classic AT complicated by severe hemorrhagic cystitis, a rare clinical manifestation. Genetic analysis revealed novel variants in the ATM gene.

Case presentation: A 12-year-old Han Chinese boy presented with recurrent gross hematuria that progressed in frequency and severity after completion of chemotherapy for T-cell acute lymphoblastic leukemia (ALL). He had developed gait instability at age 2, and brain MRI showed cerebellar atrophy. Genetic testing revealed compound heterozygous ATM variants: c.8357G>T (p.Gly2786Val) (maternal) and IVS54+3A>C (paternal) (NM_000051). Cystoscopy revealed multiple telangiectatic lesions of the bladder mucosa with associated yellow-brown sedimentation. Emergency cystoscopic electrocoagulation controlled the bleeding.

Conclusion: We report two novel ATM variants (c.8357G>T, IVS54+3A>C) in a patient with classic AT who developed severe hemorrhagic cystitis associated with bladder wall telangiectasia. AT patients may be at risk for delayed, potentially life-threatening hemorrhagic cystitis, particularly following cyclophosphamide exposure. Cystoscopy is essential for diagnosis and enables timely endoscopic management.

Background: Multisystem inflammatory syndrome in children (MIS-C) remains one of the most complex post-infectious conditions associated with SARS-CoV-2. In Ukraine, where the healthcare system operates under uneven resource availability due to the ongoing conflict, diagnostic and therapeutic decisions often require simplified, adaptable tools for early risk assessment. This study aims to develop MIS-C severity scoring systems based on clinical and laboratory predictors and differentiate them according to healthcare facilities resource availability.

Methods: This retrospective cohort study included 51 children (aged 7 months to 17 years) with confirmed MIS-C. Patients were divided into severe (PICU+) and non-severe (PICU-) groups. MLR was used to identify independent predictors, followed by internal bootstrap validation. Two resource-adjusted models were proposed: MIS-C Severity Score Basic (MIS-C-SS-Basic) and MIS-C Severity Score Advanced (MIS-C-SS-Advanced).

Results: The Advanced model included four-system involvement, hepatomegaly, and IL-6 ≥ 310 pg/mL and showed AUC = 0.936 with sensitivity 91.7% and specificity 88.9%. The Basic model included ESR ≥ 22 mm/h, hepatomegaly, and free abdominal fluid and showed AUC = 0.826 with sensitivity 87.5% and specificity 70.4%. Both models were converted into point-based scores.

Conclusion: Two resource-adapted MIS-C severity scores were developed to predict PICU admission in children with MIS-C. External validation in independent cohorts is needed.

This review by a multidisciplinary panel of pediatric gastroenterology, pediatric neurology, and pediatric oncology experts aimed to address the standard of care in pediatric malnutrition in a context of ABCDs: A- Anthropometric assessment, B- Etiology-based evaluation, C- Nutritional Intervention & Treatment and D- Individualization & Restoration. The proposed standard of care in pediatric malnutrition involves routine assessment of growth and development at every pediatric visit, timely diagnosis and etiological classification of malnutrition, selection of optimal nutritional product meeting specific energy and protein requirements (such as energy- and protein-rich formulas with proteins constituting at least 10% of total calories), and implementation of appropriate nutritional intervention strategies tailored to the type and severity of malnutrition. These strategies may include stabilization, catch-up growth, nutritional rehabilitation, and restoration treatment using peptide-based enteral formulas, depending on the clinical context.

Despite growing interest in music therapy (MT) as a supportive intervention in neonatal intensive care units (NICUs), strong evidence for its long-term efficacy remains scarce. This perspective article explores the multifaceted challenges of implementing and evaluating MT in NICUs, particularly for preterm infants. These challenges include (1) limited understanding of premature auditory development, (2) environmental acoustics, (3) methodological inconsistencies in MT delivery, and the complex medical (4) and psychosocial (5) context of the NICU. Further compounding this issue is the underappreciation of parental involvement and the perception of MT among healthcare professionals. Addressing these gaps is essential for establishing standardized, effective MT protocols tailored to this vulnerable population.

Autoimmune diseases are characterized by immune disorders that lead to abnormal activation of autoreactive immune cells, which in turn lead to tissue destruction and organ dysfunction. Compared with adults, autoimmune diseases in children are more severe, with increased disease activity and organ damage occurring earlier, and with higher mortality. In addition to the poor effect of traditional therapy in some children, children also have the needs for growth and development, and the use of traditional therapy will lead to severe immunosuppression and sequelae, affecting the quality of life of children. The emergence of Chimeric antigen receptors (CAR) cell therapy and biological agents has provided new treatment options for children with autoimmune diseases.

Introduction: Management of children ≤36 months of age presenting with fever without source remains a challenge because the underlying aetiologies may range from self-limiting viral infections to serious bacterial infections (SBIs) including bacteraemia, urinary tract infection (UTI), pneumonia, bacterial meningitis, osteomyelitis, or septic arthritis. This systematic review was conducted to determine the thresholds at which C-reactive protein (CRP), procalcitonin (PCT), and interleukin-6 (IL-6) can predict SBIs in this population.

Methods: We systematically searched electronic databases such as MEDLINE, Cochrane, CINAHL, and Web of Science for studies that evaluated the diagnostic accuracies of CRP, PCT, and IL-6 in detecting SBIs in children ≤36 months of age presenting with fever without source, during the period between November 2013 and November 2023. Area under the summary receiver operating curve (SROC) was calculated by the Rutter and Gatsonis method. I ² was used to quantify study heterogeneity. All tests were two-sided, and a p-value <0.05 was considered statistically significant. This review was registered with PROSPERO, CRD42023439093.

Results: Datasets from 37 studies were included. A CRP cut-off of 10-20 mg/L had the highest pooled sensitivity of 0.75 (95% CI: 0.54-0.89), while a CRP cut-off of >40 mg/L had the highest pooled specificity 0.92 (95% CI: 0.87-0.95). A PCT cut-off of <0.5 ng/mL had the highest pooled sensitivity of 0.7812 (95% CI: 0.59-0.90) but the lowest pooled specificity of 0.69 (95% CI: 0.54-0.81). Based on receiver operating curve (ROC) analysis, a CRP cut-off between 10 and 20 mg/L and a PCT cut-off of <0.5 ng/mL showed the best diagnostic performance with a pooled AUC of 0.84 (95% CI: 0.79-0.90) and 0.816 (95% CI: 0.727-0.928), respectively. Only 1 study for IL-6 reported that a threshold of 20 pg/dL had a sensitivity and specificity of 79.1% and 91.6%, respectively.

Conclusion: A PCT cut-off of 0.5 ng/mL and a CRP cut-off of 10-20 mg/L display the best performance in identifying SBIs in children ≤36 months of age with fever without source.

Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/view/CRD42023439093, identifier CRD42023439093.

Trichobezoars are rare masses made from ingested hair that are commonly seen in young females. We report a case of a 7-year-old girl who presented with generalized abdominal pain and rapid weight loss. Initial evaluation with radiography, magnetic resonance imaging (MRI), and upper gastrointestinal series (UGI) suggested superior mesenteric artery (SMA) syndrome but failed to provide a definitive diagnosis. A gastric trichobezoar was ultimately identified on esophagogastroduodenoscopy (EGD). While uncommon, trichobezoars should be considered in the differential diagnosis of pediatric patients, especially females presenting with nonspecific symptoms. Without obvious alopecia or a known psychiatric history, diagnosis is often delayed due to symptoms overlapping with other conditions, and EGD evaluation should be considered.