Frontiers in Pediatrics最新文献

Background: Retinopathy of prematurity (ROP) remains a leading cause of childhood blindness worldwide. While anti-VEGF therapy has revolutionized ROP treatment, concerns regarding systemic absorption, potential neurodevelopmental impacts, and late reactivation have spurred the quest for alternative therapeutic approaches. This mini-review examines emerging therapeutic targets and novel biomarkers that may transform ROP management beyond the anti-VEGF era.

Methods: We conducted a comprehensive literature review of studies published between 2001 and 2025, focusing on novel therapeutic mechanisms, biomarker discovery, and translational research in ROP.

Results: Several promising therapeutic targets have emerged, including: (1) IGF-1 supplementation and IGF-1/IGFBP3 complex therapy; (2) Omega-3 polyunsaturated fatty acids, demonstrating anti-inflammatory and anti-angiogenic properties; (3) Antioxidant therapies targeting oxidative stress pathways; (4) HIF-stabilizing agents that promote physiological vascularization; (5) Cell-based therapies using mesenchymal stem cells and (6) Non-selective beta-adrenergic receptor blockers (propranolol), which target the sympathetic drive of pathological neovascularization. Novel biomarkers under investigation and advanced imaging biomarkers using OCT angiography. Combination approaches integrating multiple pathways show particular promise.

Conclusions: Emerging therapies targeting multiple pathogenic mechanisms, combined with novel biomarkers for risk stratification and treatment monitoring, show potential for more personalized and effective ROP management. Future research should focus on validating these biomarkers in diverse populations and optimizing combination therapy protocols to minimize treatment burden while maximizing visual outcomes and systemic safety.

Congenital pseudarthrosis of the tibia (CPT) is a rare and challenging pediatric orthopedic disorder that predominantly affects the distal or middle third of the tibia, with involvement of the proximal third being exceedingly rare. Literature on this condition remains limited. This case presents proximal tibial CPT with proximal tibial dysplasia in a 7-year-old male patient with neurofibromatosis type 1. Based on the fundamental treatment principles of CPT, the child underwent pseudarthrosis resection, bone grafting, and internal fixation with a Rush rod combined with a plate. Following the achievement of initial successful union, hemiepiphysiodesis was employed to correct the genu valgus deformity. This case report proposes a hypothesis regarding the formation mechanism of proximal tibial CPT and provides clinical support for the standardized diagnosis and management of CPT.

The diagnosis of Sengers syndrome, a rare mitochondrial disorder, is often challenged by phenotypic mimicry. We report a diagnostically instructive case of a 4-month-old female who presented with the classic triad of congenital cataracts, hypertrophic cardiomyopathy, and lactic acidosis. Initial whole-exome sequencing (WES) was confounded by the finding of a heterozygous variant in CRYBA2 and only a single heterozygous nonsense mutation in AGK (c.409C>T, p.Arg137*). The persistence of a multisystemic phenotype inconsistent with an isolated cataract disorder prompted further investigation. Copy number variation (CNV) analysis of the WES data revealed a large heterozygous deletion in AGK, which breakpoint-specific polymerase chain reaction and Sanger sequencing precisely characterized as a novel 7.6 kb deletion (chr7:141297542-141305156). This confirmed compound heterozygosity, yielding a definitive diagnosis of Sengers syndrome and reclassifying the CRYBA2 variant as incidental. Crucially, breakpoint analysis indicated a non-Alu-mediated mechanism for the deletion. This case highlights the critical importance of CNV analysis in resolving genetically ambiguous autosomal recessive cases and provides novel insight into the structural mutational landscape of AGK.

Background: Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease. In Latin America, the utility of the existing lupus classification criteria and their economic implications remain unexplored.

Objective: To evaluate and compare the utility and cost-effectiveness of the ACR-1997, SLICC-2012, and ACR/EULAR-2019 classification criteria in children with suspected cSLE.

Methods: We prospectively included subjects aged ≤17 who presented to the Immunology Department with suspected cSLE and consented to participate in the study. Exclusion criteria were pregnancy, tuberculosis, immunosuppressive therapy, malignancies, or insufficient data to apply the classification criteria. The ACR-1997, SLICC-2012, and ACR/EULAR-2019 lupus criteria were applied, followed by a referral for expert consensus diagnosis, which served as the standard of reference. We calculated the classification performance (how well a set of classification criteria assigns an individual to SLE or no-cSLE, measuring sensitivity, specificity, among others), direct healthcare costs for each classification, and developed a decision tree and quadrant graph for economic evaluation.

Results: Ninety-six subjects (83% female) with a median age of 13.5 years were included in this study. The expert consensus diagnosis identified cSLE in 43 subjects; ACR and ACR/EULAR each identified 42 cases, while SLICC identified 56. The sensitivity was 98% for SLICC-2012, 84% for ACR-1997, and ACR/EULAR-2019, p = 0.000). The cost per subject per classification was USD 287.62 for SLICC-2012, USD 174.97 for ACR-1997, and USD 310.36 for ACR/EULAR-2019 (p = 0.596).

Conclusion: The SLICC-2012 criteria were the most sensitive for the classification of SLE, but not the most cost-effective. ACR-1997 remains the most cost-effective tool in specialized settings; however, the higher sensitivity of SLICC-2012 supports its use to improve early referral.

Objectives: This study aimed to investigate the relationship between parents' exercise habits (PEH), exercise motivation (EMO), and exercise behavior (EB) among junior high school students in Shanghai, with a particular focus on the mediating effects of different types of motivation.

Methods: A cross-sectional online survey was conducted in Shanghai from February to June 2023 using purposive sampling. A total of 803 questionnaires were distributed through online platforms, and 777 valid responses were included in the final analysis. Structural Equation Modeling (SEM) was applied using SmartPLS 4.0 to examine the direct and indirect pathways among variables.

Results: The results showed that PEH was positively associated with EB both directly and indirectly. Among the five types of EMO, competence motivation (CMO) and fitness motivation (FMO) were positively related to EB, whereas social motivation (SMO) was negatively related to EB. Mediation analysis indicated that CMO served as a significant positive mediator, while SMO acted as a significant negative mediator in the relationship between PEH and EB. Enjoyment motivation (EJMO) and appearance motivation (AMO) were not significantly associated with EB. In addition, PEH was positively associated with all five dimensions of EMO.

Conclusions: PEH play an important role in shaping adolescents' EB through distinct motivational pathways. Autonomous motivations, particularly competence-related motivation, facilitated exercise engagement, whereas socially controlled motivation was associated with lower EB. These findings highlight the need for family- and school-based interventions that emphasize autonomy and competence support rather than social pressure to promote sustained physical activity (PA) among adolescents.

Objective: Report a case of Behcet's disease (BD) in a child with trisomy 8 mosaicism (T8M), providing insights for the diagnosis, treatment, and prognosis of this condition.

Methods: The clinical data of an 11-year-old girl with T8M mosaicism and BD who was admitted to our hospital in August 2022 were retrospectively analyzed, and the relevant literature was reviewed.

Results: The main clinical manifestations of the child were recurrent oral ulcers, vulvar ulcers, fever, and joint deformities of both hands. Inflammatory markers (CRP, white blood cell, IL-6, IL-17) were significantly increased, and complement C3 and C4 were decreased. Cranial MRI showed dysplasia of the corpus callosum and ventriculomegaly. BD was diagnosed according to the international standard, and genetic testing confirmed a karyotype of 47, XX, +8[9]/46, XX [31] (chimerism ratio 22.50%). After treatment with glucocorticoids combined with immunosuppressants (including thalidomide, etc.), the ulcer and inflammatory markers were rapidly relieved. However, the ulcer recurred two and a half years after drug withdrawal.

Conclusions: T8M may be detected in the autoinflammatory stage of BD, before any overt hematologic manifestations appear. Children presenting with BD-like features plus developmental anomalies or refractory autoinflammation should undergo karyotyping to establish the presence or absence of T8M, thereby informing both clinical management and genetic counseling.

Background: Elastic intramedullary nails (ESIN) are widely used for pediatric fractures; however, their removal poses technical challenges. Currently, there are limited reports on improvements in ESIN removal techniques. This study aimed to explore the clinical efficacy of Kirschner Wire (K-wire) sleeve-assisted ESIN removal surgery and to provide new references for ESIN extraction in orthopedic surgery.

Methods: This retrospective study included 32 patients who underwent ESIN removal surgery at our hospital between October 2020 and July 2024. Patients were retrospectively assigned to two groups based on surgical method: the conventional instrument removal group and the K-wire cannula-assisted removal group. The efficacy of K-wire sleeve-assisted ESIN removal surgery was then compared with that of the traditional method.

Results: The K-wire sleeve group (observation group, n = 17) exhibited a significantly shorter operative time (4.65 ± 1.12 vs. 11.33 ± 1.47 min/nail, p < 0.001) and significantly smaller incisions (0.95 ± 0.11 vs. 1.43 ± 0.33 cm/nail, p < 0.001) when compared to traditional methodology (control group, n = 15). Among the 32 patients, no cases of postoperative incision infection, intraoperative nerve injury, or vascular injury were observed.

Conclusion: The Kirschner Wire (K-wire) sleeve-assisted ESIN removal technique provided a minimally invasive and cost-effective alternative to traditional methods.

Introduction: Supravalvular aortic stenosis (SVAS) is a rare left ventricular outflow tract obstruction, most commonly caused by pathogenic variants in ELN. Truncating variants in exons 1-29 typically produce non-syndromic SVAS through elastin haploinsufficiency, whereas C-terminal variants are linked to autosomal dominant cutis laxa. However, clinically and mechanistically well-characterized variants in the distal part of this "stenotic zone," such as exon 28, remain uncommon.

Methods: We conducted a retrospective family-based case report with standardized clinical evaluation, serial echocardiography, and trio whole-exome sequencing with Sanger confirmation and conservation analysis.

Results: A female infant presented at 1 month with severe sinotubular junction narrowing (Z-score -4.8, peak gradient 24 mmHg), severe peripheral pulmonary artery stenosis, a small atrial septal defect, and moderate mitral regurgitation. Her father had severe SVAS with mild PPAS and prior aortic root enlargement, without syndromic features. Trio sequencing identified a novel heterozygous ELN exon 28 frameshift variant, c.1879_1883dup (p.Ala629LeufsTer15), inherited from the father. Ala629 is fully conserved, and the duplication introduces a premature stop codon, consistent with nonsense-mediated decay and elastin haploinsufficiency. At 9 months, SVAS progressed (peak gradient 35 mmHg), while PPAS gradients regressed by >40%.

Conclusion: This novel exon 28 ELN frameshift expands the non-syndromic SVAS spectrum and illustrates a characteristic pattern of progressive aortic stenosis with improving PPAS, supporting ELN testing and targeted longitudinal surveillance in similar patients and families.

Introduction: Unicameral bone cyst (UBC) is a common disease in children. There are several different treatment modalities for this condition. Elastic stable intramedullary nail (ESIN) insertion alone was a minimally invasive method that allows for cyst drainage and fracture prevention; however, the treatment outcome remains unclear and inadequately classified. We aimed to evaluate the outcomes of pediatric humeral UBC treated only with ESIN insertion.

Methods: This was a retrospective case series study. Data records included patient demographics, fracture classification, cyst size, treatment strategy, and complications. The Capanna classification was used to determine the outcomes. The potential influential factors for complete healing were analyzed.

Results: A total of 22 patients with an average age at surgery of 7.2 years were included. The average follow-up was 5.0 years (range 2.1-12 years). There were 3 (13.64%) type I, 8 (36.36%) type II, 3 (13.64%) type III, 8 (36.36%) type IV. 2163;. The complete healing rate (type I) and effective rate (type I, II) were 13.64% and 50%, respectively. No factors significantly influenced complete healing. At the last follow-up visit, none of the patients experienced pain or refracture, and their shoulder motion was unlimited.

Conclusion: In our study, the use of ESIN insertion alone to treat humeral UBC, on the basis of the Capanna classification, resulted in a complete healing rate of 13.64% and an overall effective rate of 50%.