Frontiers in Pediatrics最新文献

Background: Chronic Non-bacterial Osteomyelitis (CNO) is a rare autoinflammatory bone disease primarily affecting children and adolescents. The disease presents with a wide spectrum of severity, ranging from mild unifocal lesions to severe, recurrent multifocal bone inflammation. Its etiology remains unclear, making diagnosis challenging due to nonspecific symptoms.

Methods: We report the case of a 14-year-old girl who presented with recurrent swelling and pain in the left clavicle. After multiple admissions, the patient underwent extensive diagnostic workup, including laboratory tests, imaging, and biopsies, which showcased typical imaging and histopathological findings throughout the disease progression, helping to rule out infections and malignancies. Based on clinical findings and the exclusion of other conditions, she was diagnosed with CNO. Treatment included NSAIDs, intravenous antibiotics, and oral medications such as diclofenac sodium, naproxen, methotrexate, and calcitriol.

Results: During the one-year follow-up after initial treatment, the patient experienced recurrent symptoms, including swelling and pain in the left clavicle. After escalation to intravenous pamidronate and subcutaneous adalimumab, the patient achieved sustained clinical remission. During the subsequent two-year follow-up, no further symptom recurrence was observed.

Conclusion: CNO is generally diagnosed by exclusion, with MRI being the gold standard for detecting asymptomatic lesions and assessing disease activity. Treatment typically involves NSAIDs, with bisphosphonates and biologics increasingly used in refractory cases. This case underscores the complexity of diagnosing and managing CNO, highlighting the need for a multidisciplinary approach. Further research is essential to establish standardized diagnostic criteria and optimize treatment strategies for this rare condition.

Mucopolysaccharidosis (MPS) represents a group of rare inherited metabolic disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) due to deficiencies of lysosomal enzymes. Mucopolysaccharidosis type I (MPS I) is caused by biallelic pathogenic variants in the IDUA gene and is inherited in an autosomal recessive pattern. The IDUA gene is located on chromosome 4p16.3 and encodes the lysosomal enzyme α-L-iduronidase, which plays a critical role in the degradation of GAGs, particularly dermatan sulfate and heparan sulfate. Reduced or absent IDUA enzymatic activity leads to the progressive accumulation of undegraded substrates within lysosomes, resulting in multisystem organ involvement. Based on clinical severity, MPS I is traditionally classified into three phenotypic subtypes: the severe form (Hurler syndrome), the intermediate form (Hurler-Scheie syndrome), and the attenuated form (Scheie syndrome, MPS I-S). This report describes a 13-year-old female patient in whom compound heterozygous pathogenic variants in the IDUA gene were identified by genetic testing, and whose clinical manifestations were consistent with the MPS I-S. In addition to typical skeletal and joint abnormalities, the patient also presented with uterine developmental abnormality. Currently, there is no definitive evidence supporting a direct causal relationship between MPS I and uterine developmental abnormalities; however, this case suggests a potential association between MPS I and reproductive system developmental abnormalities. This case may help further expand the phenotypic spectrum of MPS I and enhance clinical awareness of its multisystem involvement.

Background: The triglyceride-glucose (TyG) index is widely recognized as a surrogate marker of insulin resistance and poor prognosis in adults. However, the relationship between the TyG index and outcomes in pediatric sepsis patients remains inadequately characterized. Elucidating this association could illuminate the metabolic dimension of sepsis pathophysiology and provide a simple, cost-effective tool for risk stratification in this vulnerable population. This study aims to investigate the relationship between the TyG index and 30-day mortality in pediatric sepsis and to explore its underlying biological significance.

Methods: We conducted a retrospective cohort study and enrolled 149 children who met the diagnostic criteria for sepsis from the PIC database of the Children's Hospital of Zhejiang University between 2010 and 2018. Participants were stratified by TyG level. The primary outcome was 30-day in-hospital all-cause mortality, and the secondary outcome was 30-day ICU all-cause mortality. Cox regression, restricted cubic splines (RCS), and Kaplan-Meier analyses were used to evaluate the association between the TyG index and 30-day mortality in pediatric sepsis patients.

Results: Among the 149 children with sepsis, higher TyG index levels were associated with a reduced 30-day mortality rate. In the multivariate Cox regression model, after adjusting for age, gender and key laboratory variables, the TyG index remained independently and negatively correlated with both in-hospital mortality and intensive care unit mortality. Restrictive cubic spline analysis revealed a linear negative correlation between the TyG index and the risk of death. Subgroup analysis indicated that the TyG index had a consistent protective effect across different age groups, genders and treatment subtypes. Although the Kaplan-Meier survival curve observed a trend of higher TyG index being associated with better survival rates, this association did not reach statistical significance in the sample of this study.

Conclusions: In pediatric patients with sepsis, a higher TyG index was associated with a lower 30-day mortality rate. This finding suggests that the TyG index shows potential for being related to short-term survival rates in children. Future studies need to further explore the interaction between the TyG index and other potential prognostic factors, and verify its value in larger or more diverse populations.

Introduction: Necrotizing enterocolitis (NEC) is a severe gastrointestinal disorder that primarily affects preterm infants, resulting in significant morbidity and mortality. The exact cause of NEC remains unclear, but it is believed to involve a combination of immune dysregulation, intestinal injury, and microbiota imbalance.

Methods: This scoping review examines existing human and animal studies that explore the role of myeloid cells (neutrophils, monocytes, macrophages, and myeloid-derived suppressor cells (MDSCs) in NEC pathogenesis.

Results: A reduction in peripheral blood monocytes, along with increased infiltration of proinflammatory monocytes and neutrophils into the intestine, are strongly associated with NEC severity. Immunoregulatory MDSCs may provide protective benefits; however, their activity appears impaired in preterm infants with NEC. Therapies targeting these immune pathways, including transforming growth factor-β2 (TGF-β2) and lactoferrin, show promise in preclinical models for mitigating inflammation and improving outcomes in infants with NEC.

Conclusions: Targeting myeloid cell immune responses represents a potential therapeutic strategy in NEC. Future research should focus on translating immune-modulating therapies to clinical practice, as such interventions may reduce NEC incidence and severity and offer new hope for vulnerable neonates.

Introduction: School bullying has become an important social problem among adolescents, it can influence the growth of individual, yet understanding of the impacts of school bullying is limited. The present study determined to investigate whether and how school bullying can influence adolescent social adaptation.

Methods: Structural equation modeling was used to assess the hypothesized model. A sample of 434 Chinese adolescents (56.9% females), with an average age of 13.07 years (SD = 0.93), participated the survey.

Results: The present study combined self-disclosure and school connectedness into a serial mediation model, highlighting the role of individual and environmental factors in the outcomes of school bullying.

Discussion: These findings suggest that adolescents who engage in bullying are less likely to disclose personal information, which in turn hinders their sense of belonging at school, ultimately impairing their positive social adaptation. The results highlight the interplay between individual (self-disclosure) and environmental (school connectedness) factors in the outcomes of school bullying. Both limitations and implications are discussed in the end.

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.