Frontiers in Pediatrics最新文献

Introduction: This study aimed to investigate craniofacial skeletal morphology in pediatric obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with different malocclusion types.

Materials and methods: A retrospective cross-sectional analysis study was conducted at Chengdu Second People's Hospital from 2023 to 2024. A total of 299 children diagnosed with OSAHS (aged 10-12 years) were included. Craniofacial structures were assessed using Jarabak and Ricketts methods. Patients were divided by malocclusion type: Class II (n = 150, 56.7% male, mean age 11.2 ± 0.6) and Class III (n = 149, 50.3% male, mean age 11.4 ± 0.8). Group differences in cephalometric parameters were compared using independent samples t-tests and Mann-Whitney U tests, as appropriate.

Results: Significant differences were found between groups. Compared to Class II, Class III patients had lower ANB angle (-2.8 ± 2.6° vs. 5.6 ± 1.9°, Cohen's d = 1.23), Wits appraisal (-2.9 ± 3.7 mm vs. 2.6 ± 0.7 mm, Cohen's d = 2.02), SN:GoMe (103.1 ± 6.0% vs. 106.7 ± 9.0%, Cohen's d = 0.48), MP/FH (32.9 ± 2.99° vs. 37.3 ± 2.65°, Cohen's d = 1.57), Xi-Pm/DC-Xi (29.3 ± 2.1° vs. 24.6 ± 3.1°, Cohen's d = 1.81), and ANS-Xi-Pm (47.8 ± 2.9° vs. 50.7 ± 2.4°, Cohen's d = 1.11) (all P < 0.05). Class III patients showed higher S-Ar:Ar-Go (75.9 ± 7.2% vs. 80.9 ± 13.0%, Cohen's d = 0.48), NP/FH (88.1 ± 2.9° vs. 83.1 ± 1.86°, Cohen's d = 2.14), Pt-Gn/Ba-N (92.2 ± 2.1° vs. 79.6 ± 2.4°, Cohen's d = 5.44), and Hy-C3 distance (5.8 ± 0.9 mm vs. 3.4 ± 0.4 mm, Cohen's d = 3.26) (all P < 0.05). No significant differences were observed in other parameters (N-S-Ar, S-Ar-Go; P > 0.05).

Conclusion: Distinct craniofacial skeletal patterns exist in pediatric OSAHS patients with different malocclusions. Class III patients demonstrate mandibular growth restriction with compensatory protrusion, while Class II patients display high-angle, long-face morphology with clockwise growth rotation. These findings have important clinical implications for individualized orthodontic and surgical planning in the management of pediatric OSAHS, highlighting the need for early assessment of craniofacial structure in affected children.

Introduction: Gitelman syndrome (GS) presents with a broad range of clinical manifestations. Although uncommon, seizures secondary to severe metabolic alkalosis or hypomagnesemia have been documented. A concurrent diagnosis of epilepsy in patients with GS is even rarer.

Case presentation: We report the case of a 12-year-old boy whose chief complaint was recurrent convulsions. Initial laboratory evaluation revealed normal serum magnesium levels, which subsequently decreased during follow-up. Persistent hypokalemia, hyperaldosteronism, and hypomagnesemia in subsequent disease course, as well as mutations of the SLC12A3 gene, confirmed the diagnosis of GS. Based on long-term monitoring of seizure episodes, electroencephalogram findings, and the electrolyte levels during an epileptic seizure, a diagnosis of epilepsy was established. His seizures were well controlled with levetiracetam.

Conclusion: We report a case of GS presenting with convulsions as the chief complaint. The etiology of epilepsy in this case remains unclear and may represent either a causal association or a coincidental comorbidity with GS. The mechanism of the atypical dynamics of serum magnesium levels in this patient-normal levels initially followed by a subsequent decrease-warrants further investigation.

Background: Mesenchymal chondrosarcoma (MCS) is a rare and highly aggressive subtype of chondrosarcoma, accounting for less than 1% of all chondrosarcomas. It predominantly affects adolescents and young adults and frequently arises in craniofacial bones and soft tissues. Diagnosis is challenging because of significant histological overlap with other high-grade spindle cell sarcomas, particularly when the cartilaginous component is minimal or absent. The identification of the HEY1::NCOA2 gene fusion has emerged as a highly specific molecular marker for MCS, substantially improving diagnostic accuracy and providing potential therapeutic implications.

Case presentation: We report the case of a 13-year-old girl who presented with a 3-month history of progressive right cheek swelling. Imaging revealed a destructive mass in the right maxillary sinus. Histopathological evaluation demonstrated a high-grade spindle cell tumor, initially interpreted as fibrosarcoma, showing diffuse vimentin positivity, a high Ki-67 proliferation index (35%-40%), and CD34 negativity. Comprehensive molecular analysis confirmed a pathogenic HEY1::NCOA2 gene fusion, while ETV6::NTRK3 fusion was excluded. The patient was treated with VAC chemotherapy (vincristine, actinomycin D, cyclophosphamide), local radiotherapy (60 Gy), cranial prophylactic radiotherapy (12 Gy), and subsequent debulking surgery. Follow-up ¹⁸F-FDG PET/CT demonstrated a partial metabolic response. Given persistent disease and molecular evidence suggesting activation of the PI3K/AKT/mTOR pathway in MCS, maintenance therapy with the mTOR inhibitor sirolimus was initiated.

Conclusion: This case highlights the pivotal role of molecular diagnostics-particularly RNA sequencing-in establishing the diagnosis of mesenchymal chondrosarcoma and differentiating it from other high-grade pediatric sarcomas with overlapping morphology. Identification of the HEY1::NCOA2 fusion not only confirms the diagnosis but may also support biologically targeted therapeutic strategies. Multimodal treatment incorporating chemotherapy, radiotherapy, surgery, and targeted maintenance therapy can achieve meaningful disease control in aggressive craniofacial MCS. To our knowledge, this represents one of the very few reported pediatric cases of maxillary MCS with confirmed HEY1::NCOA2 fusion managed with sirolimus-based maintenance therapy.

Objective: To describe the short-term clinical and echocardiographic effects of a first volume expansion in hypotensive preterm infants during the first 24 h of life.

Study design: Single-center retrospective observational pilot study including preterm infants ≤31 + 6 weeks of gestation, intubated and mechanically ventilated, presenting arterial hypotension within 24 h of life. All infants received a first volume expansion with modified fluid gelatin (20 mL/kg). Clinical and echocardiographic parameters were compared immediately before and after volume expansion.

Results: Thirty-one infants were included. Volume expansion was associated with a significant increase in systolic, diastolic and mean arterial pressure (median MAP increase: +4 mmHg; +17%), and a significant decrease in heart rate and capillary refill time. Echocardiographic assessment showed a significant increase in left ventricular end-diastolic diameter and superior vena cava flow (median increase: +19%), suggesting improved preload and systemic blood flow. No immediate clinically apparent adverse events were recorded during the observation period.

Conclusion: In this exploratory pilot study, a first volume expansion was associated with short-term improvements in clinical and echocardiographic hemodynamic parameters in hypotensive preterm infants. These findings are hypothesis-generating and cannot be generalized to current filling strategies or repeated fluid boluses.

Objective: Early-onset neonatal pneumonia (EONP) demands rapid recognition, but blood tests are invasive and may be delayed. This study evaluated whether noninvasive salivary pentraxin-3 (PTX3), calprotectin, and interleukin-8 (IL-8) differ between EONP and healthy controls and whether they reflect systemic inflammation.

Methods: EONP required respiratory distress within 72 h of birth, new infiltrates on chest radiograph and/or lung ultrasound, and ≥1 laboratory or microbiologic criterion: abnormal leukocyte indices (I/T ratio > 0.16 or WBC/differential abnormality), hs-CRP ≥ 10 mg/L, PCT ≥ 0.5 ng/mL, or a positive blood/upper-airway culture with a compatible pathogen. Saliva was collected after definitive EONP diagnosis and immediately before systemic antibiotics in 100 EONP infants and 126 healthy controls. Biomarkers (PTX3, calprotectin, IL-8) were quantified by ELISA.

Results: EONP infants had higher salivary PTX3 (median 2.11 vs. 0.79 ng/mL), calprotectin (11.65 vs. 3.07 ng/mL), and IL-8 (15.02 vs. 4.67 pg/mL) than healthy controls. After adjustment, calprotectin and IL-8 remained independently associated with EONP, whereas PTX3 did not retain statistical significance. In case-control discrimination, using ROC-derived cut-offs, AUCs were 0.865 (PTX3), 0.967 (calprotectin), and 0.930 (IL-8); a combined three-marker model achieved AUC 0.978. Within EONP, salivary PTX3, calprotectin, and IL-8 correlated with systemic indices and modestly enriched for blood-culture-positive bacteremia (combined model AUC 0.707).

Conclusions: Noninvasive salivary PTX3, calprotectin, and IL-8 are substantially elevated in early-onset neonatal pneumonia and mirror systemic inflammation. The three-marker panel showed near-excellent discrimination vs. healthy controls and modest enrichment for culture-positive bacteremia, suggesting value as an adjunct to bedside assessment in this case-healthy-control setting. Performance in neonates with non-infectious respiratory distress should be validated in prospective cohorts.

Background: Mycoplasma pneumoniae pneumonia (MPP) is a prevalent community-acquired pneumonia in children, and severe MPP (SMPP) poses a prominent threat to pediatric health with rapid progression, high complication rates, and increased clinical management burden. Clinically, the capacity to identify children at high risk of SMPP remains inadequate. The aim of this study was to develop and validate a nomogram for predicting SMPP in children with MPP.

Methods: A total of 475 children with MPP admitted to Xuzhou Children's Hospital from Jan. 2023 to Dec. 2024 were enrolled, meeting specific inclusion/exclusion criteria. They were categorized into severe MPP (SMPP, n = 151) and non-SMPP (n = 324) groups, then randomly split into training (n = 332) and validation (n = 143) cohorts at a 7:3 ratio. Demographic, clinical, laboratory data and derived inflammatory indicators were collected. LASSO and multivariate logistic regression were used to construct a nomogram, with ROC, calibration curves and DCA for evaluation. The study was ethically approved.

Results: Using LASSO and multivariate logistic regression analyses, fever duration (OR = 1.271, P < 0.0001), red blood cell count (OR = 0.300, P = 0.0069) and albumin (OR = 0.795, P = 0.0002) were identified as independent predictors. The nomogram showed good discrimination (training cohort AUC=0.8574, 95%CI:0.8162-0.8986; validation cohort AUC=0.8147, 95%CI:0.7435-0.8859). The Hosmer-Lemeshow test yielded P = 0.551 in the training set and P = 0.553 in the validation set, and calibration curves in both cohorts confirmed excellent model fit, while DCA verified substantial clinical utility, supporting the nomogram's clinical value in pediatric SMPP prediction.

Conclusion: We developed and validated a practical, user-friendly nomogram for predicting SMPP in children with MPP, which could facilitate early identification and risk stratification of SMPP.

Background/objectives: The Neonatal Assessment Manual scorE (NAME) model has emerged as a novel, structured, touch-based approach to evaluating neonates' general conditions, with growing evidence supporting its validity and reliability in NICU settings. However, there is a critical need to integrate this method into clinical workflows and explore its translational potential in improving neonatal care. This paper aims to consolidate the body of evidence surrounding the NAME model and propose a clinically implementable strategy to enhance neonatal assessment, early detection of complications, and overall health outcomes in NICU settings.

Methods: We critically appraised key NAME studies encompassing theoretical rationale, construct and content validity, inter-rater reliability, and clinical correlations in NICU populations. Drawing from these findings, we developed a stepwise clinical framework for NAME integration, aligning it with existing neonatal care protocols.

Results: Evidence demonstrates that NAME scores correlate significantly with infants' gestational age, birth weight, and complexity indices (p < 0.001), providing a rapid and non-invasive method to stratify newborns' health conditions. Inter-rater reliability is moderate-to-good, particularly for "Marginal" classifications, and professionals across NICU disciplines found the method to have high content validity (CVI ≥ 0.9). A structured roadmap for clinical integration is proposed, including operator training guidelines, NAME score interpretation algorithms, and embedding NAME within multidisciplinary rounds.

Conclusions: The NAME model, grounded in physiological and clinical evidence, represents a promising paradigm shift in neonatal assessment. Its systematic adoption may facilitate early risk detection, personalized care planning, and improved outcomes in NICU populations. Future implementation studies are needed to validate its operational impact across diverse care settings and age groups.

Background: The incidence of central precocious puberty (CPP) has reportedly increased worldwide during the coronavirus disease 2019 (COVID-19) pandemic; however, multicenter data from Japan remain limited. This study aimed to evaluate temporal changes in the incidence and clinical characteristics of CPP before, during, and after the pandemic.

Methods: We conducted a multicenter retrospective observational study across four pediatric endocrinology centers in Kanagawa, Japan. Newly diagnosed CPP cases from 2018 to 2023 were categorized into three periods: pre-pandemic (2018-2019), pandemic (2020-2021), and post-pandemic (2022-2023). Incidence rate ratios (IRRs) were calculated using quasi-Poisson regression, with population size included as an offset. Clinical characteristics-including age at diagnosis, bone age, degree of overweight, and hormone profiles-were compared across periods using the Kruskal-Wallis test.

Results: A total of 118 children (94 girls and 24 boys) were diagnosed with CPP during the study period. Among girls, CPP incidence increased significantly during the pandemic compared with the pre-pandemic period [IRR 2.47; 95% confidence interval (CI): 1.29-5.03]. In boys, incidence also increased with a statistically significant IRR; however, the estimate was accompanied by wide confidence intervals owing to the small number of cases. Elevated incidence rates in girls persisted into the post-pandemic period. No significant differences were observed across periods in age at diagnosis, degree of bone age advancement, degree of overweight, or basal and stimulated hormone levels. Nevertheless, the cohort consistently exhibited higher degrees of overweight compared with national reference values.

Conclusions: This multicenter study demonstrates a significant increase in CPP incidence among girls during the COVID-19 pandemic in Japan, with sustained elevation in the post-pandemic period. Although clinical characteristics remained largely unchanged, the consistently higher degree of overweight underscores the need to consider lifestyle and environmental factors that may have been exacerbated during the pandemic. Ongoing surveillance and reevaluation of CPP diagnostic criteria may be warranted to address emerging epidemiological trends.

Background and objective: This study aimed to examine the relationship between the Singapore Housing Index (SHI) and presence of serious bacterial infections (SBIs) among young febrile infants.

Methods: A secondary analysis was conducted on infants ≤3 months old, who presented to a paediatric Emergency Department (ED) with temperature ≥38°C between December 2017 and 2021. SHI was categorised into low, medium and high groups. The primary outcome was presence of SBIs. Secondary outcome was a composite of the need for resuscitation, and/or need for high acuity care. We performed multivariable logistic regression to study if SHI was independently associated with SBIs and SBI outcomes.

Results: Among 1,001 infants, the median age was 32 days (interquartile range IQR 10-60), and 176 infants (17.6%) were diagnosed with SBIs. The SBI rates among low, medium, and high SHI groups were 12.6% (13/103), 17.5% (115/658), and 20% (48/240) respectively (p = 0.256). After adjusting for male sex, neonate status, ethnicity, and late prematurity, neither high (aOR 1.714, 95% CI 0.844-3.480, p = 0.136) nor medium SHI (aOR 1.572, 95% CI 0.826-2.990, p = 0.168) was significantly associated with SBI compared with low SHI. No evidence of association was found between SHI and severe clinical outcomes.

Conclusions: In our study population, young infants from low SHI were not at greater risk for SBIs. Future research should include other measures of social determinants in the understanding of SBI risk in young febrile infants.