BMC Pediatrics最新文献

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with heterogeneous severity. Abnormal amino acid metabolism may contribute to ASD pathogenesis, but the relationship between amino acid levels and severity remains unclear. This study investigated the association and predictive value of blood amino acid profiles for ASD severity.

Methods: We enrolled 474 children with ASD, divided into mild-to-moderate (CARS 30-36, n = 123) and severe groups (CARS 37-60, n = 351). Tandem mass spectrometry measured blood branched-chain amino acids (BCAAs) and excitatory amino acids (EAAs). Multivariate logistic and restricted cubic spline regressions analyzed associations and dose-response relationships. Model performance was evaluated by ROC, calibration, and decision curve analysis.

Results: The severe group had higher total BCAAs (307.50 ± 79.94 vs. 284.74 ± 70.51 µmol/L, P = 0.005) and EAAs (245.18 ± 72.02 vs. 227.83 ± 67.32 µmol/L, P = 0.020). After full adjustment, leucine/isoleucine showed the strongest association with severe ASD (OR = 1.012, 95% CI: 1.006-1.018, P < 0.001), followed by glutamate (OR = 1.005, 95% CI: 1.002-1.009, P = 0.006). BCAAs, leucine/isoleucine, and EAAs exhibited linear positive correlations with severe ASD risk; glutamate showed nonlinear association. Leucine/isoleucine had optimal predictive performance (AUC = 0.807, 95% CI: 0.765-0.849; sensitivity 69.80%, specificity 76.42% at 125.595 µmol/L). Subgroup analysis indicated that the associations between amino acids and ASD severity were stronger in children ≤ 3 years old and those with low BMI, with valine showing an interaction with sex (P = 0.045).

Conclusions: Blood BCAAs and EAAs were closely associated with ASD severity, with leucine/isoleucine as the strongest predictor. Amino acid profile-based models provide biomarker evidence for identifying severe ASD and precision intervention.

Background: Febrile seizures (FS) represent the most common type of seizures in children; however, their exact pathogenesis remains incompletely understood. Currently, there is a lack of specific biomarkers for predicting FS occurrence, and existing prophylactic drug strategies remain controversial. Using untargeted metabolomics, this study investigates metabolic differences between children with FS and those with fever but without seizures (non-febrile seizures, NFS), aiming to elucidate the metabolic profile of FS and identify potential biomarkers, thereby providing new insights for clinical prediction and treatment.

Methods: Plasma samples were collected from 31 children with FS and 31 children with NFS. Untargeted metabolomic profiling was performed using high-performance liquid chromatography coupled with high-resolution mass spectrometry (HPLC-HRMS). Peak extraction and metabolite identification were conducted with the XCMS software. Differential metabolites were screened using both univariate and multivariate statistical analyses, followed by metabolic pathway enrichment analysis. A random forest algorithm was applied to construct a predictive model, and significantly altered metabolites were selected as candidate biological predictors.

Results: Children with FS exhibited significant metabolic disturbances across multiple pathways, including necroptosis, glycerophospholipid metabolism, linoleic acid metabolism, sphingolipid signaling, phagocytosis, ferroptosis, and sphingolipid metabolism. The random forest model identified 10 significantly altered metabolites as potential predictors: SM(d18:1/24:1), LysoPC(22:0/0:0), SM(d18:0/18:0), Cer(d18:1/16:0), LysoPC(24:0/0:0), 12,13-DHOME, diethanolamine, pantothenic acid, arachidonic acid, and 3-carbamoyl-2-phenylpropionaldehyde. The model demonstrated a predictive accuracy of 83% and achieved an area under the curve (AUC) of 0.98.

Conclusion: Patients with FS exhibited a distinct metabolic profile characterized by activated necroptosis, dysregulated lipid metabolism, and inflammatory imbalance. Metabolites such as arachidonic acid, lysophosphatidylcholines, and sphingolipids may serve as potential biomarkers and therapeutic targets. This study provides new metabolomic evidence for early prediction and targeted intervention of FS.

Background: Partially hydrolyzed cow's milk protein (PHP) formulas are nutritionally complete and have a high-quality protein composition, and extensive history of safe use. The current study evaluated growth and safety in healthy term infants receiving a new PHP formula with an added prebiotic blend.

Methods: In this multi-center, double-blind, controlled, parallel, prospective study, healthy term infants were randomized to receive one of two formulas through 365 days of age: previously marketed intact cow's milk protein formula (Control, n = 122) or investigational PHP formula (INV-PHP, n = 122). Both formulas had an added prebiotic blend of polydextrose (PDX) and galactooligosaccharides (GOS) (1:1, 4 g/L). The primary outcome was rate of weight gain (g/day) from 14 to 120 days of age. To establish equivalence between study formulas, the 90% two-sided confidence interval (CI) of the mean group difference in body weight growth rate from 14 to 120 days of age needed to be contained within a predefined equivalence interval (± 3 g/day). Growth rates through Day 120 and achieved anthropometrics through Day 365 were analyzed by ANOVA. Parent-reported tolerance outcomes were also collected. Medically confirmed adverse events were collected throughout the study period.

Results: Of 244 infants enrolled and randomized (Control, n = 122; INV-PHP, n = 122); 175 completed study feeding through Day 120 (Control, n = 91; INV-PHP, n = 84). Equivalence in rate of weight gain from 14 to 120 days of age was demonstrated with the difference in means of 0.5 g/day and 90% CI [- 1.10, 2.08 g/day] within the predefined equivalence interval (± 3 g/day). Mean achieved weight remained between 25th -75th reference percentiles of the WHO growth standard through Day 180 by sex and subsequently tracked between 50th -90th percentiles through Day 365. Formula acceptance and tolerance were good. Stool consistency remained soft in both groups throughout the study. No significant group differences in mean fussiness and gassiness scores, or medically confirmed adverse events were detected. A total of 159 participants completed the Day 365 visit (Control, n = 82; INV-PHP, n = 77).

Conclusions: Overall, partially hydrolyzed cow's milk protein infant formula with an added prebiotic was safe, well-tolerated, and associated with adequate growth for healthy term infants receiving formula through one year of age.

Trial registration: ClinicalTrials.gov, ClinicalTrials.gov Identifier NCT05047978. Registered 28 August 2021, https://clinicaltrials.gov/study/NCT05047978.

Background: Iron deficiency (ID) is a common nutritional disorder and a leading cause of anemia worldwide, particularly affecting children with congenital heart defects (CHD). Despite its clinical importance, data on the prevalence of ID in pediatric CHD patients, especially in low- and middle-income countries, remain limited. This study aimed to assess the prevalence of iron deficiency and anemia in Vietnamese children with CHD before and after surgical repair, and to identify associated risk factors.

Methods: We conducted a cross-sectional observational study at the University Medical Center in Ho Chi Minh City, Vietnam, from January to September 2023. A total of 151 children with CHD were included: 81 preoperative and 70 postoperative patients. Children with confounding conditions or recent iron supplementation were excluded. Iron deficiency was defined using both the British Society for Haematology (BSH) and the AHA/ACC/HFSA criteria. Hematological and biochemical parameters were measured, and logistic regression was used to explore associations between clinical characteristics and iron deficiency.

Results: Preoperative iron deficiency was observed in 46.9% of patients using BSH criteria and 87.7% using AHA criteria. Postoperative prevalence decreased to 34.3% and 75.7%, respectively. Cyanotic patients had significantly higher red blood cell indices and lower ferritin and transferrin saturation compared to acyanotic patients preoperatively; these differences were no longer observed after surgery. Anemia prevalence was relatively low, with mostly mild cases (16% preoperative and 11.4% postoperative). Univariate analysis identified age under five years and lower preoperative weight as risk factors for iron deficiency; however, these associations were not statistically significant in multivariate models.

Conclusions: Iron deficiency is highly prevalent among Vietnamese children with CHD, particularly before surgical repair, and persists in a substantial proportion even after surgery. The findings highlight the need for routine screening and targeted nutritional interventions throughout the perioperative period to improve long-term outcomes in this vulnerable population.

Trial registration: Not applicable.

Objectives: Ingestion of superabsorbent polymer beads (SAPBs) poses a unique and serious risk of intestinal obstruction in young children due to their rapid expansion within the gastrointestinal tract. Data regarding the ingestion of SAPBs remain scarce, with the existing literature primarily drawn from isolated case reports. This study retrospectively reviewed cases of SAPBs ingestion in pediatric patients treated at our institution to summarize clinical characteristics and share management experience.

Methods: We conducted a retrospective review of medical records for patients aged < 18 years who presented to our hospital due to SAPBs ingestion between September 2018 and September 2025. Demographic information, clinical presentation, imaging findings, treatment modalities, and complications were collected and analyzed.

Results: Eleven patients (7 males, 4 females) met the inclusion criteria and were analyzed. The median age was 1 year 4 months. The median time from ingestion to presentation was 12 h (range, 2-48), and from ingestion to symptom onset was 5 h (range, 2-24). The most common presenting symptoms were vomiting (6/11), fever (5/11), and irritability (4/11); abdominal distension was noted in 3 patients (27%). Three patients remained asymptomatic throughout. Computed Tomography (CT) and ultrasound were useful for diagnosis in 5/7 and 2/3 cases, respectively. SAPBs were commonly located in the duodenal ascending segment (n = 2) and ileum (n = 2). Management included laparotomy with transmural fragmentation (3/11), gastroduodenoscopy with intraluminal fragmentation (1/11), gastroduodenoscopy converted laparotomy with fragmentation (1/11), gastroduodenoscopy only (3/11) and enemas only (3/11). Complications included intestinal obstruction (5/11), elevated liver enzymes, anemia, and headache (1 each).

Conclusion: Ingestion of SAPBs can lead to significant morbidity in children, often requiring endoscopic or surgical intervention. In our small series, for expanded SAPBs accessible during laparotomy, manual fragmentation and advancement into the colon for subsequent transanal expulsion allowed us to avoid enterotomy in selected cases. CT and ultrasound are valuable for diagnosis. Enhanced public awareness and stricter product regulations may help reduce the occurrence of such accidental injuries.

Objective: This study evaluated the relationship between vitamin D status and insulin resistance (IR) among Korean adolescents, focusing on the differences between normal-weight and overweight/obese groups using non-insulin-based IR indices.

Methods: In this cross-sectional study, data from 3,838 adolescents (age: 12-18 years) who participated in the Korea National Health and Nutrition Examination Survey (KNHANES) from 2008 to 2014 were included. Using this nationally representative dataset, serum 25-hydroxyvitamin D (25(OH)D) levels were measured, and the prevalence of vitamin D deficiency (25(OH)D < 20 ng/mL) was estimated at the population level. The subjects were divided into the normal-weight and overweight/obese groups. We used the triglyceride-glucose index (TyG), triglyceride-to-high-density lipoprotein cholesterol ratio(TG/HDL-C), TyG with body mass index (TyG-BMI), and metabolic score for IR (METS-IR) as non-insulin-based IR indices. To evaluate the mean differences between groups and the associations with vitamin D status, we used a survey-weighted generalized linear regression model, adjusting for age, sex, household income, and strength training.

Results: The prevalence of vitamin D deficiency among adolescents was 78.5%. In particular, the mean vitamin D levels were higher in boys, individuals who engaged in strength training, and individuals with waist circumferences below the 90th percentile. Vitamin D levels were significantly negatively associated with IR markers, particularly METS-IR in the normal-weight group and TyG-BMI and METS-IR in the overweight/obese group. The sensitivity analysis revealed that higher vitamin D levels were associated with a more substantial reduction in IR, especially in overweight/obese adolescents.

Conclusions: Vitamin D deficiency is significantly associated with higher IR in adolescents, as measured by non-insulin-based indices. This association appears to be strong in overweight/obese individuals.