BMC Pediatrics[JOURNAL]
Sun
200 papers
Development of an Orff music-based intervention program based on the PERMA model for children with cochlear implants: a Delphi study.
Huang Y, Li X, Rao W … +6 more , Sheng X, Zhang Y, Wang L, Sun Q, Shasha, Zhang B
BMC Pediatr · 2026 Jun · PMID 42289666 · Full text
OBJECTIVE: To develop a PERMA-based Orff music intervention program for children with cochlear implants and to evaluate its preliminary effectiveness in rehabilitation. METHODS: The intervention program was developed bas...
OBJECTIVE: To develop a PERMA-based Orff music intervention program for children with cochlear implants and to evaluate its preliminary effectiveness in rehabilitation. METHODS: The intervention program was developed based on the PERMA model of positive psychology and Orff music therapy through a combination of literature review and the Delphi method. A panel of 15 experts in clinical medicine, rehabilitation, and nursing participated in two rounds of consultation to refine the program. Subsequently, a quasi-experimental study was conducted with 15 children who had cochlear implants to assess feasibility and potential effectiveness. Outcome measures included auditory, speech, and psychosocial indicators, evaluated before and after a 3-month intervention. RESULTS: All experts completed both rounds of consultation, with importance ratings ranging from 4.2 to 5.0, indicating high consensus. The final intervention framework comprised 5 primary, 15 secondary, and 15 tertiary components. Following the 3-month intervention, significant improvements were observed across all outcome measures (p < 0.05). The program also demonstrated good acceptability and feasibility. CONCLUSIONS: The PERMA-based Orff music intervention showed preliminary effectiveness in improving auditory, speech, and psychosocial outcomes in children with cochlear implants. This multidimensional approach may provide a useful reference for developing comprehensive rehabilitation strategies in pediatric clinical practice. At the same time, the study results provide preliminary observational data on the feasibility of the intervention, which can serve as a reference for the design of future randomized controlled trials.
Comparative effectiveness of 12-week open- and closed-skill exercises on executive function in children with ADHD and developmental dyslexia: a randomized controlled trial.
Quan T, Ye J, Yu Q … +2 more , Zhu F, Zhang L
BMC Pediatr · 2026 Jun · PMID 42289665 · Full text
BACKGROUND: Children with attention deficit/hyperactivity disorder and comorbid developmental dyslexia (ADHD + DD) demonstrate both core symptoms of ADHD and pronounced reading difficulties, which further compromise exec...
BACKGROUND: Children with attention deficit/hyperactivity disorder and comorbid developmental dyslexia (ADHD + DD) demonstrate both core symptoms of ADHD and pronounced reading difficulties, which further compromise executive function (EF). This study compared the effects of open-versus closed-skill exercises (OSE vs. CSE) on EF in children with ADHD + DD. METHODS: Thirty children (6.9-8.5 years) with ADHD + DD were randomly assigned to OSE (n = 15) or CSE (n = 15) training, with 15 typically developing (TD) children receiving CSE. All completed 12-week, thrice-weekly, moderate-to-high intensity (> 60% VO₂ max) sessions. OSE performed table tennis; CSE did track-and-field. EF was assessed with SCWT, CFT, and TMT; visual perception used DTVP-3. Data were analyzed by two-way repeated-measures ANOVA, with ANCOVA used to adjust baseline differences. RESULTS: Compared with TD peers, ADHD + DD children exhibited impairments in inhibitory control (including Stroop A/B/C/D RT, Stroop B/D error count, and word interference time), all working memory indices, cognitive flexibility (digit-alphabet linking time), and all visual perception measures (all p < 0.05). After intervention the outcomes revealed significant Group × Time differences in EF, including inhibitory control (Stroop B/D RT, word interference time), working memory (delayed detail and structural memory), and cognitive flexibility (digit-alphabet linking time) (p < 0.05). Post-hoc tests confirmed that OSE yielded significantly greater improvements than CSE. For secondary visual perception outcomes, all measures showed significant Group × Time interactions (all p < 0.05). Further adjusted analyses demonstrated that OSE outperformed CSE significantly in visual-motor integration (VMI), copying ability, motor-reduced visual perception (MRP), form consistency, and general visual perception (GVP) (all p < 0.05). CONCLUSIONS: OSE (table tennis training) has superior efficacy in improving EF and visual perception in children with ADHD + DD compared with CSE (track-and-field training), providing preliminary empirical evidence for a feasible non-pharmacological intervention strategy for this population.
Epidemiology and clinical course of PFAPA syndrome in the pediatric population-single center study.
Gołuchowska N, Tomaszewska A, Ząber A … +5 more , Będzichowska A, Knapik A, Kudiuk A, Rustecka A, Kalicki B
BMC Pediatr · 2026 Jun · PMID 42289664 · Full text
OBJECTIVE: PFAPA syndrome is the most common autoinflammatory disease of childhood, with an as yet unknown etiology. It is characterized by recurrent, periodic episodes of fever accompanied by specific clinical features....
OBJECTIVE: PFAPA syndrome is the most common autoinflammatory disease of childhood, with an as yet unknown etiology. It is characterized by recurrent, periodic episodes of fever accompanied by specific clinical features. The aim of this study was to provide a detailed characterization of PFAPA syndrome in a large Polish pediatric cohort. METHODS: We conducted a retrospective study based on data from 47 children with a confirmed diagnosis of PFAPA syndrome. Data were collected using structured questionnaires. Detailed analyses included clinical manifestations, therapeutic approaches, and laboratory findings. RESULTS: The median age of the study population was 5 years, with a predominance of males (59.6%). In 91.5% of patients, the first episode of fever occurred before the age of 5 years. Febrile episodes lasted a mean of 5 days, with a median inter-episode interval of 3 weeks. The key clinical manifestations included cervical lymphadenopathy (91.5%), tonsillar exudates (85.1%), pharyngitis (74.5%), and oral aphthae (51.1%). During afebrile intervals, 87.2% of patients were free of symptoms. Laboratory evaluation showed elevated inflammatory markers, with a median C-reactive protein level of 6.9 mg/d (in the 9 patients with available laboratory data), a median erythrocyte sedimentation rate of 35.0 mm/h, and a mean neutrophil count of 11.8 × 10^3/µL. Prednisone treatment was effective in 97.6% of cases. Tonsillectomy was performed in 25.5% of children and resulted in complete resolution of febrile episodes in 83.3% of them. CONCLUSIONS: This study confirms the established epidemiologic and clinical profile of PFAPA syndrome in the pediatric population, highlighting its characteristic manifestations and the high effectiveness of glucocorticoid therapy and tonsillectomy. The findings may contribute to consolidating current knowledge about PFAPA and to reducing the inappropriate use of antibiotics.
Construction of a sensitive indicator system for the quality of neonatal jaundice care.
Xie YX, Jin YX, Li H … +5 more , Xian WF, Zeng CX, He W, Wang H, Deng S
BMC Pediatr · 2026 Jun · PMID 42289662 · Full text
BACKGROUND: Neonatal jaundice is a prevalent neonatal condition, with improper management potentially leading to severe neurological damage. Significant disparities in care quality exist globally, highlighting the urgent...
BACKGROUND: Neonatal jaundice is a prevalent neonatal condition, with improper management potentially leading to severe neurological damage. Significant disparities in care quality exist globally, highlighting the urgent need for a standardized, disease-specific nursing quality evaluation system. AIMS AND OBJECTIVES: This study aimed to construct a scientifically rigorous and reliable sensitive indicator system for evaluating the quality of neonatal jaundice care, based on Donabedian's structure-process-outcome model. METHODS: A methodological study design was employed. An initial draft was developed through a systematic literature review and semi-structured interviews. Subsequently, 18 experts participated in two rounds of Delphi consultations to reach a consensus on the indicators. RESULTS: The effective response rates for the two consultation rounds were 90.0% and 100.0%, respectively. The expert authority coefficients were 0.851 and 0.879. The final system comprises 3 first-level, 10 second-level, and 24 third-level indicators. CONCLUSION: The successfully constructed indicator system demonstrates strong scientific validity and reliability. It provides a consensus-based, standardized framework for assessing neonatal jaundice care quality, requiring further empirical testing before large-scale implementation.
Comparison of human metapneumovirus and respiratory syncytial virus in children with acute lower respiratory infections in Wenzhou, China from 2021 to 2022: a retrospective study.
Zhu L, Zeng L, Zhang M … +6 more , Chen X, Li Y, Yu J, Wen S, Zhang H, Yu G
BMC Pediatr · 2026 Jun · PMID 42288805 · Full text
OBJECTIVE: To compare the clinical characteristics of human metapneumovirus (HMPV) and respiratory syncytial virus (RSV) infections in children hospitalized with acute lower respiratory infections (ALRI). METHODS: Childr...
OBJECTIVE: To compare the clinical characteristics of human metapneumovirus (HMPV) and respiratory syncytial virus (RSV) infections in children hospitalized with acute lower respiratory infections (ALRI). METHODS: Children hospitalized with ALRI in Wenzhou, China from 2021 to 2022 were detected for HMPV and RSV in sputum or nasopharyngeal secretions by multiplex reverse transcription polymerase chain reaction (RT-PCR). A comparative analysis of demographic, clinical, laboratory, and radiological characteristics was performed retrospectively for patients in the HMPV and RSV groups. RESULTS: A total of 15,772 hospitalized children were screened and tested by multiplex RT-PCR. 889 (5.6%) were HMPV-positive and 2,196 (13.9%) were RSV-positive. Compared with the RSV-associated ALRI group, the HMPV-associated ALRI group exhibited a lower proportion of males (55.2% vs. 62.2%, P = 0.002), an older median age (2.5 years vs. 1.6 years, P < 0.001), and a higher proportion of underlying medical conditions (9.9% vs. 6.0%, P = 0.001). The HMPV group exhibited significantly longer duration of fever (P < 0.001) and higher peak temperature (P < 0.001) compared with the RSV group. In contrast, the RSV group were more likely to present with respiratory distress, including retractions (P = 0.006) and nodding breathing (P = 0.032). Levels of C-reactive protein (14.18 mg/L vs. 7.80 mg/L, P < 0.001), procalcitonin (P = 0.001), lactate dehydrogenase (422.0 U/L vs. 381.0 U/L, P < 0.001), and neutrophil percentage (60.6% vs. 56.5%, P = 0.007) in the HMPV group were significantly higher than the RSV group. Children with HMPV-associated ALRI were more likely to exhibit patchy or linear opacities (71.5% vs. 65.1%, P = 0.016), pulmonary consolidation (4.1% vs. 2.1%, P = 0.047), and atelectasis (1.8% vs. 0%, P = 0.001) compared with those in the RSV group. CONCLUSION: In hospitalized children, those with HMPV infection may be more common in older children and more likely to have underlying medical conditions than those with RSV infection. Children with HMPV-associated ALRI may present with prolonged, higher-grade fever, more pronounced systemic inflammatory responses, and an increased risk of developing pulmonary consolidation and atelectasis.
Fatigue and new murmur in a 15 year old after a catheter ablation procedure.
Khandekar H, Dasgupta S, Johnsrude C … +2 more , Alsoufi B, Talley L
BMC Pediatr · 2026 Jun · PMID 42288772 · Full text
BACKGROUND: Infective endocarditis is an atypical complication of pediatric cardiac catheterization procedures including electrophysiology study and ablation. CASE PRESENTATION: A 15-year-old male with neurogenic bladder...
BACKGROUND: Infective endocarditis is an atypical complication of pediatric cardiac catheterization procedures including electrophysiology study and ablation. CASE PRESENTATION: A 15-year-old male with neurogenic bladder who had undergone catheter ablation to treat ventricular tachycardia was subsequently diagnosed with endocarditis, likely stemming from post-procedure Enterococcus faecalis urinary tract infection and requiring extensive cardiac surgery. CONCLUSION: Though infectious endocarditis is a rare complication of invasive cardiac procedures, especially in pediatric patients, there have been several cases where patients have been diagnosed with IE stemming from urinary tract infection. Therefore, specific attention to risk of post-procedure urinary tract infection including systemic involvement should be considered for selected patients in whom urinary catheter placement is anticipated.
X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.
Jo HY, Kim YM, Kim H … +2 more , Cho YJ, Cheon CK
BMC Pediatr · 2026 Jun · PMID 42288746 · Full text
BACKGROUND: X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare skeletal dysplasia caused by pathogenic variants in TRAPPC2 and typically presents in late childhood or adolescence with short-trunk disproportion...
BACKGROUND: X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare skeletal dysplasia caused by pathogenic variants in TRAPPC2 and typically presents in late childhood or adolescence with short-trunk disproportion and vertebral dysplasia. CASE PRESENTATION: We describe a family series centered on an adolescent male initially diagnosed with GHD due to reduced height velocity and subnormal GH stimulation results, who received recombinant human GH (rhGH) therapy for three years with negligible improvement. During puberty, he developed progressive short-trunk disproportion and characteristic radiographic features, including platyspondyly and posterior hump-shaped vertebral endplates, suggestive of SEDT. Whole-exome sequencing (WES) was nondiagnostic, whereas whole-genome sequencing (WGS) identified a novel intronic TRAPPC2 variant, c.239-20_239-12delinsAATGAA, initially classified as a variant of uncertain significance (VUS). Segregation analysis across the family enabled reclassification of the variant to likely pathogenic, confirming X-linked SEDT. The proband's younger brother exhibited earlier radiologic abnormalities and, notably, a favorable response to rhGH, whereas the younger sister-an asymptomatic heterozygous carrier-showed normal spinal morphology, consistent with expected female carrier phenotypes. CONCLUSIONS: This family-based report underscores the generally limited therapeutic effect of rhGH in SEDT while highlighting potential interindividual variability, as evidenced by the younger male sibling's response. It further emphasizes the diagnostic utility of WGS for detecting deep intronic variants missed by WES and the importance of segregation analysis in resolving VUS in rare skeletal dysplasias.
Urinary exosomal miR-132-3p as a novel non‑invasive biomarker for kidney scarring in pediatric vesicoureteral reflux patients.
Chen Q, Qiu J, Huang L … +2 more , Guo Y, Lu X
BMC Pediatr · 2026 Jun · PMID 42288734 · Full text
OBJECTIVE: To assess the potential of urinary exosomal miRNA as a predictor of kidney scarring in children with vesicoureteral reflux (VUR). METHODS: A prospective study was conducted in pediatrics diagnosed with VUR bet...
OBJECTIVE: To assess the potential of urinary exosomal miRNA as a predictor of kidney scarring in children with vesicoureteral reflux (VUR). METHODS: A prospective study was conducted in pediatrics diagnosed with VUR between September 2023 to December 2025. Urinary exosomes were isolated from patients via ultracentrifugation and subsequently characterized using transmission electron microscopy (TEM), nanoparticle tracking analysis (NTA) and Western blot. The expression levels of exosomal miRNAs were profiled using miRNA sequencing and validated by quantitative real-time PCR. Kidney scarring was determined based on dimercaptosuccinic acid (DMSA) scintigraphy, and its association with the identified urinary exosomal miRNAs was investigated. RESULTS: This prospective study enrolled 81 patients, comprising 33 males and 48 females, with a median age of 27 months (IQR: 8-82). Urinary exosomal miR-132-3p expression was significantly associated with higher reflux grade, bilateral reflux, and the presence of kidney scarring. Multivariate logistic analysis showed that urinary exosomal miR-132-3p (OR = 4.937, 95% CI: 1.906-12.781, P < 0.001) was a significant predictor of kidney scarring with a high predictive value with an area under the curve (AUC) of 0.908 (95% CI: 0.823-0.961, P < 0.001). CONCLUSION: In this exploratory single-centre cohort, urinary exosomal miR-132-3p serves as a promising non-invasive biomarker for the prediction of kidney scarring in children with VUR.
Successful one-stage thoracoscopic repair of esophageal atresia with tracheoesophageal fistula and associated foregut duplication cyst in a neonate: a case report and review of the literature.
Wu X, Li B, Ren H
BMC Pediatr · 2026 Jun · PMID 42286565 · Full text
BACKGROUND: Esophageal atresia with tracheoesophageal fistula (EA-TEF) complicated by foregut duplication (FD) cyst is an exceedingly rare congenital anomaly. Since the first description in 1956, only 20 cases have been...
BACKGROUND: Esophageal atresia with tracheoesophageal fistula (EA-TEF) complicated by foregut duplication (FD) cyst is an exceedingly rare congenital anomaly. Since the first description in 1956, only 20 cases have been reported, with open thoracotomy representing the standard surgical approach. We present a case of successful one-stage thoracoscopic repair of this complex association in a neonate. CASE PRESENTATION: A male neonate weighing 2080 g was diagnosed with Gross type C EA-TEF. At 3 days of age, right thoracoscopic exploration identified a 1-cm FD cyst on the distal esophageal wall. Complete cyst enucleation with mucosal preservation and muscle layer reconstruction was performed, followed by fistula ligation and primary esophageal anastomosis. Histopathology confirmed FD cyst with stratified squamous, columnar, and simple flat epithelium. The postoperative course was complicated by pneumonia, suspected anastomotic leak, and anastomotic stricture requiring three dilations. At 10-month follow-up, the infant demonstrated catch-up growth (weight 8 kg, 10th percentile; height 72 cm, 25th percentile) with no recurrence of fistula or cyst. CONCLUSIONS: One-stage thoracoscopic repair of EA-TEF with concurrent FD cyst enucleation appears technically feasible in selected neonates. The magnified visualization afforded by thoracoscopy may, in some cases, facilitate intraoperative identification of FD. However, this approach does not eliminate anastomotic complications inherent to EA surgery. Patient selection, surgical expertise, and long-term functional outcomes require further investigation.
Clinical characterization and developmental follow-up of a child with Sotos syndrome carrying a novel NSD1 variant.
Tang H, Feng W, Tan R … +5 more , Ren S, Kong X, Zhang L, Jiang X, Wang H
BMC Pediatr · 2026 Jun · PMID 42286513 · Full text
BACKGROUND: Sotos syndrome is a rare overgrowth-intellectual disability(OGID) disorder typically associated with developmental delay that stabilizes or improves with early intervention. CASE PRESENTATION: We report a 17-...
BACKGROUND: Sotos syndrome is a rare overgrowth-intellectual disability(OGID) disorder typically associated with developmental delay that stabilizes or improves with early intervention. CASE PRESENTATION: We report a 17-month-old boy with classic clinical features of Sotos syndrome who presented with severe speech and motor delay. Whole-exome sequencing(WES) revealed a novel de novo nonsense pathogenic variant in NSD1:c.3910 C > T (p.Gln1304Ter), which is predicted to truncate multiple functional domains, including the SET(Su(var)3-9, Enhancer-of-zeste, and Trithorax) catalytic domain. Despite early and continuous rehabilitation, his developmental quotient(DQ) decreased from 45.8 at 17 months to 39.9 at 28 months, indicating slow and limited developmental progress over time. Brain MRI (magnetic resonance imaging) revealed corpus callosum abnormalities and reduced white matter volume. CONCLUSIONS: This is the first report of Sotos syndrome caused by the NSD1:c.3910 C > T (p.Gln1304Ter) pathogenic variant. Beyond expanding the spectrum of pathogenic variants, this case highlights a relatively severe neurodevelopmental profile with persistently limited progress, underscoring the importance of early genetic diagnosis, sustained multidisciplinary rehabilitation, and long-term follow-up to optimize outcomes in affected children.
Children and adolescents' views on artificial intelligence in pediatric healthcare: a qualitative focus group study.
Reinhart L, Kerth JL, Bischops AC … +4 more , Hagemeister M, Krassuski L, Mayatepek E, Meissner T
BMC Pediatr · 2026 Jun · PMID 42286506 · Full text
BACKGROUND: The increased use of artificial intelligence (AI) in healthcare, including pediatrics, offers significant opportunities for improving quality, personalization, and effectiveness of care. Nevertheless, success...
BACKGROUND: The increased use of artificial intelligence (AI) in healthcare, including pediatrics, offers significant opportunities for improving quality, personalization, and effectiveness of care. Nevertheless, successful implementation of this approach in pediatric patients depends on their acceptance and the integration of their preferences regarding AI use within participatory decision-making. Since previous research insufficiently addresses the perspectives of children and adolescents on AI use in pediatric healthcare, the objective of this study was to address this research gap. METHODS: This qualitative study was conducted at the University Children's Hospital Duesseldorf, Germany, and in surrounding schools. Recruitment took place from March to September 2024. Semi-structured interviews including two scenarios were conducted: an AI-based application (1) for assessing the development of children and adolescents, (2) for supporting and monitoring children and adolescents with chronic conditions. Content analysis was used to evaluate information. RESULTS: Eighteen focus group interviews with 58 participants (8-11 years = 10; 12-14 years = 23; 15-17 years = 25) were conducted. Nine key topics emerged: benefits, fears, dealing with misdiagnoses of AI, responsibility for data input and access, impact on the physician-patient relationship, the right not to know, transparency, data sources, and desired features. Participants repeatedly emphasized that AI should serve only as a supportive tool, with healthcare professionals retaining final authority and critically evaluating its findings. Key benefits included early detection of health anomalies and reduced diagnostic or human errors. Barriers to acceptance encompassed data privacy concerns, suspected lack of empathy, absence of physical examination, and risk of false diagnoses. CONCLUSIONS: This qualitative study underlines, that the requirements, perceived benefits, and concerns of AI-based applications in pediatric healthcare are multifaceted and necessitate including minors in their development and implementation. Age-appropriate education on AI use, risks, limitations, opportunities and strengths is essential for acceptance. If possible, minors should be openly informed about the limitations of AI decision transparency, with underlying mechanisms explained where appropriate. At best, children and adolescents should already be involved in development of AI applications in terms of information and consent. TRIAL REGISTRATION: This study was retrospectively registered in the German Clinical Trials Registry (DRKS00034474; 17th June 2024).
Comparison of eating behaviors between single-child and child with siblings: an analytical cross-sectional study.
Bazyar H, Moradi T, Bahreini A … +5 more , Bandari A, Aghaei J, Aghamohammadi V, Moghadam HR, Najmaddini A
BMC Pediatr · 2026 Jun · PMID 42286480 · Full text
INTRODUCTION: The importance of accurately understanding school-aged children (7-12 years) and implementing efforts to safeguard and promote their physical and psychological health is widely recognized. Changes in family...
INTRODUCTION: The importance of accurately understanding school-aged children (7-12 years) and implementing efforts to safeguard and promote their physical and psychological health is widely recognized. Changes in family structure, including the rise of single-child households, may influence children's eating behaviors; however, evidence from Iran is limited. The present study aimed to determine and compare eating behaviors among children (aged 7-12 years) from single-child and multi-child families. METHODS: To assess eating behaviors among elementary school children in Khalkhal City, 318 boys and girls from urban and rural primary schools were selected using cluster random sampling. Demographic questionnaire, Physical Activity Questionnaire for Older Children (PAQ-C), and Children's Eating Behavior Inventory (CEBI) were applied. SPSS software (IBM SPSS Statistics, Armonk, USA) was used for data analysis. RESULTS: The mean age was 9.55 ± 1.77 years in the single-child group and 9.71 ± 1.70 years in the multi-child group, with no statistically significant difference between groups (P = 0.42). The mean global CEBI score was significantly higher in the multi-child group compared to the single-child group (113.91 ± 6.76 vs. 105.47 ± 8.31; P < 0.001). Similarly, the mean scores of skill (35.30 ± 3.33 vs. 32.29 ± 4.57), compliance (52.85 ± 3.85 vs. 49.45 ± 4.57), and preferences (25.75 ± 3.15 vs. 23.72 ± 3.62) were significantly higher in the multi-child group (all P < 0.001). Multivariable logistic regression analysis demonstrated that multi-child participants had significantly higher odds of being in the "normal or good" category compared to single children. For skill, the fully adjusted model showed an OR of 19.49 (95% CI: 2.25-168.80; P = 0.007). For compliance, the adjusted OR was 19.23 (95% CI: 5.43-68.05; P < 0.001). For preferences, the adjusted OR was 2.77 (95% CI: 1.64-4.69; P < 0.001). CONCLUSIONS: We found that having siblings was associated with more scores across all measured domains, including skills, compliance, and preferences. These differences remained even after controlling for confounders.
Mandibular trabecular microarchitecture as a radiographic biomarker of bone health in children with 22q11.2 deletion syndrome.
Tasdemir T, Tassoker M
BMC Pediatr · 2026 Jun · PMID 42277781 · Full text
OBJECTIVE: DiGeorge Syndrome (DGS), or 22q11.2 deletion syndrome, is a multisystem genetic disorder characterized by distinct craniofacial features and profound endocrine alterations, particularly parathyroid dysfunction...
OBJECTIVE: DiGeorge Syndrome (DGS), or 22q11.2 deletion syndrome, is a multisystem genetic disorder characterized by distinct craniofacial features and profound endocrine alterations, particularly parathyroid dysfunction and chronic hypocalcemia. This study aimed to non-invasively evaluate the microarchitecture of mandibular trabecular bone in pediatric patients with DGS using fractal dimension (FD) analysis on panoramic radiographs, aiming to better understand the localized radiographic impact of systemic calcium dysregulation and its implications for clinical management. MATERIALS AND METHODS: Eleven pediatric patients diagnosed with DGS and eleven healthy, age- and sex-matched controls were enrolled. FD values were calculated using the box-counting method via ImageJ software across specific mandibular regions, including the condylar, gonial, and interdental areas. To assess measurement reliability and potential bias, a within-subject comparison of the right and left region of interests (ROIs) was conducted using the Wilcoxon signed-rank test. Regional influences of age and gender were evaluated using Spearman's correlation and Mann-Whitney U tests. RESULTS: A statistically significant reduction in trabecular complexity was identified in the right condylar region of the DGS group (p = 0.005). No significant differences were observed between the right and left corresponding ROIs (p > 0.05), indicating an absence of measurement bias. While gender did not influence FD values, a localized moderate negative correlation was found between age and FD specifically in the left gonial region (r =-0.427, p = 0.047). CONCLUSIONS: The reduction in localized mandibular trabecular complexity in children with DGS serves as a localized radiographic biomarker of the syndrome's underlying endocrine and calcium signaling disruptions. Safely managing the complex dentofacial needs of this vulnerable population requires a paradigm shift from isolated dental care to a closely coordinated, interdisciplinary approach involving pediatric endocrinologists, pediatricians, and pediatric dentists.
"Hemodynamic effects of nasal intermittent positive pressure ventilation versus nasal continuous positive airway pressure in preterm neonates following extubation: a randomized controlled trial".
Chougula PV, Deshpande S, Nagpal R … +5 more , Lakshminrusimha S, Kolkur K, Kaur A, Sohane A, Suryawanshi P
BMC Pediatr · 2026 Jun · PMID 42277769 · Full text
BACKGROUND: Nasal continuous positive airway pressure (NCPAP) and nasal intermittent positive pressure ventilation (NIPPV) are two commonly used modalities of non-invasive respiratory support in neonatal intensive care u...
BACKGROUND: Nasal continuous positive airway pressure (NCPAP) and nasal intermittent positive pressure ventilation (NIPPV) are two commonly used modalities of non-invasive respiratory support in neonatal intensive care units. Although both are effective, NIPPV is increasingly preferred because of its additional clinical advantages. However, the comparative hemodynamic effects of these strategies remain uncertain. This randomized controlled trial aimed to compare the hemodynamic effects of NIPPV and NCPAP in preterm infants following extubation. METHODS: In this single-center randomized controlled trial, preterm neonates (26-36 weeks), previously intubated and treated with surfactant, were randomized to NIPPV or NCPAP following extubation. Functional echocardiography (FnECHO) was performed at 4-6 h and 18-24 h to assess right and left ventricular output (RVO, LVO) and indices of systolic and diastolic function. RESULTS: Sixty preterm neonates were included in the final analysis (30 in each group). Baseline RVO and LVO on invasive mechanical ventilation were comparable between the groups (p = 0.33, 0.53). Post-extubation, infants on NIPPV demonstrated significantly lower cardiac outputs than those on NCPAP at 4-6 h (RVO, p = 0.006; LVO, p = 0.001) and at 18-24 h (RVO, p < 0.001; LVO, p < 0.001). After adjustment for gestational age and birth weight, these differences remained significant. Sensitivity analysis adjusting for baseline oxygen saturation index attenuated the early differences, whereas those at 18-24 h remained significant (RVO p = 0.030; LVO p = 0.022). Despite statistical significance, all values remained within gestational age-appropriate physiological limits. Mean airway pressure was significantly higher in the NIPPV group at 4-6 h (10.35 ± 1.0 vs. 6.16 ± 1.2 cm H₂O) and 18-24 h (9.72 ± 1.3 vs. 5.71 ± 1.6 cm H₂O; both p < 0.001) and showed a significant inverse correlation with cardiac outputs. CONCLUSION: Neonates supported with NIPPV in the post-extubation period demonstrated lower cardiac outputs compared with those on NCPAP, and this was associated with higher mean airway pressures. Although within physiological limits, these changes warrant hemodynamic monitoring and further evaluation of their clinical impact. CLINICAL TRIAL REGISTRATION: This study was prospectively registered with the Clinical Trials Registry of India (CTRI/2024/04/065278) on 05 April 2024. Trial details are publicly accessible at https://ctri.nic.in/Clinicaltrials/pmaindet2.php?trialid=78,344.
GERD management in neonatal ICU infants: study protocol for a randomized controlled trial comparing maturation, added rice starch formula and proton pump inhibitors.
Jadcherla SR, Osborn EK, Sultana Z … +5 more , Helmick R, Sanchez JB, Slaughter JL, Wei L, Di Lorenzo C
BMC Pediatr · 2026 Jun · PMID 42277732 · Full text
BACKGROUND: The prevalence of gastroesophageal reflux disease (GERD) diagnosis among infants in the neonatal intensive care unit (NICU) is high and varies across USA NICUs. GERD diagnosis is challenging as symptoms can b...
BACKGROUND: The prevalence of gastroesophageal reflux disease (GERD) diagnosis among infants in the neonatal intensive care unit (NICU) is high and varies across USA NICUs. GERD diagnosis is challenging as symptoms can be physiological and association is difficult to determine without objective testing methods. Precision diagnostics using 24-hour pH-impedance (pH-Imp) studies with symptom correlation to reflux events have been developed and validated for this population. Current empiric-based, non-standardized GERD management practices are highly variable and are widely untested for safety and efficacy in high-risk NICU infants. The rationale for this randomized controlled trial (RCT) is to compare the efficacy and safety of three widely used interventions for infants that meet the criteria for acid-mediated GERD, objectively diagnosed by 24-hour pH-Imp. METHODS: This is a prospective, single-center RCT aiming to enroll convalescing NICU infants between 35- and 47-weeks postmenstrual age with objectively diagnosed GERD using a unique parallel 3-arm design comparing the short-term effects of three common management strategies: natural maturation vs. proton pump inhibitors (PPI) vs. added rice starch (AR) formula. Using established 24-hour pH-Imp inclusion criteria, subjects will be randomized to one of the three arms for a 4-week treatment course allocated 1:1:1, stratified by acid reflux index (ARI) (3-7% and > 7%) and feeding method at inception (full oral versus any tube feeds). Primary outcome measures include maintenance or improvement in oral feeding and symptom improvement measured at 4 weeks or discharge whichever is sooner. A second pH-Imp study will be done on treatment to examine treatment efficacy on GERD metrics. The primary clinical endpoints are oral feeding improvement and absence of troublesome symptoms. The mechanistic hypotheses that pH-Imp mechanisms are distinct between assigned therapies, and between clinical success and failure will also be tested. DISCUSSION: The goal of this study is to refine novel diagnostic pH-Imp criteria for infant GERD diagnosis and compare the efficacy of the three unproven therapies, examine pathophysiological mechanisms for clinical outcomes, define duration of therapy, and assess consequences of interventions. TRIAL REGISTRATION: ClinicalTrials.gov. Brief Title: GERD Infant Feeding Therapeutics Trial (GIFT Trial). NCT Number: NCT06114836. Unique Protocol ID: STUDY00003300.
Neonates admitted to the neonatal intensive care unit following pediatric emergency department visits in Türkiye: a retrospective single-center study.
Benli S, Gürlevik SL, Avşar H
BMC Pediatr · 2026 Jun · PMID 42271327 · Full text
BACKGROUND: The neonatal period is characterized by increased vulnerability to disease and often non-specific clinical presentations, leading to frequent visits to pediatric emergency departments (EDs). This study aimed...
BACKGROUND: The neonatal period is characterized by increased vulnerability to disease and often non-specific clinical presentations, leading to frequent visits to pediatric emergency departments (EDs). This study aimed to evaluate the characteristics of neonates presenting to the ED, determine the main causes of neonatal intensive care unit (NICU) admissions, and identify factors associated with prolonged hospitalization. METHODS: This retrospective single-center study included neonates aged 0-28 days who presented to the pediatric ED and were subsequently admitted to the NICU over a one-year period. Demographic characteristics, clinical diagnoses, laboratory findings, microbiological results, and length of hospital stay were analyzed. Prolonged hospitalization was defined as a length of stay > 7 days. Factors associated with prolonged stay were evaluated using both univariate and multivariable logistic regression analyses. RESULTS: Among 4,573 neonatal ED visits, 378 (8.2%) required NICU admission. The most common causes of admission were jaundice (36.5%) and respiratory distress (27.5%). More than half of admissions occurred within the first postnatal week. In multivariable logistic regression analysis, refugee status remained independently associated with prolonged hospitalization (adjusted OR [aOR] 1.99, 95% CI 1.16-3.43; p = 0.013) after adjustment for sex, low birth weight, postnatal age at admission, and major clinical diagnoses. Low birth weight (aOR 2.56, 95% CI 1.10-5.94; p = 0.028), respiratory distress (aOR 2.90, 95% CI 1.26-6.69; p = 0.012), and jaundice with urinary tract infection (aOR 4.69, 95% CI 1.65-13.37; p = 0.004) were also independently associated with prolonged stay, whereas isolated jaundice was inversely associated with prolonged hospitalization (aOR 0.16, 95% CI 0.07-0.35; p < 0.001). CONCLUSIONS: Neonates presenting to the pediatric ED constitute a vulnerable population with a considerable need for NICU admission. Respiratory distress and infection-related conditions are major determinants of prolonged hospitalization, whereas jaundice is generally associated with shorter stays. Early identification of high-risk patients may improve clinical management and resource utilization.
Long non-coding RNA IL6-AS1 promotes severe community-acquired pneumonia in children through the miR-149-5p/MAPK6 axis.
Liu C, Jian F, Li J … +1 more , Qi H
BMC Pediatr · 2026 Jun · PMID 42271325 · Full text
BACKGROUND: Severe community-acquired pneumonia (SCAP) seriously endangers children's lives. This study aimed to explore the potential regulatory mechanisms of long non-coding RNA IL6-AS1 (lncRNA IL6-AS1) in SCAP. METHOD...
BACKGROUND: Severe community-acquired pneumonia (SCAP) seriously endangers children's lives. This study aimed to explore the potential regulatory mechanisms of long non-coding RNA IL6-AS1 (lncRNA IL6-AS1) in SCAP. METHODS: This study included 160 children with SCAP and 160 healthy controls. Lipopolysaccharide (LPS) was used to induce human embryonic lung fibroblasts (MRC-5) to construct an SCAP cell model. Functional experiments were conducted by combining real-time quantitative PCR, the cell counting kit-8 (CCK-8) assay, flow cytometry, and enzyme-linked immunosorbent assay (ELISA). The targeted regulatory relationship between different genes was verified through RNA immunoprecipitation (RIP) experiment and dual luciferase assay. RESULTS: In children with SCAP, IL6-AS1 expression showed significant upregulation. IL6-AS1 has a strong diagnostic value for SCAP, and its expression was significantly positively correlated with indicators of inflammatory response intensity (C-reactive protein (CRP), lactate dehydrogenase (LDH), procalcitonin levels (PCT)) in affected children. It may emerge as an independent risk factor influencing the prognosis of SCAP patients, with significantly reduced cumulative survival rates observed in children exhibiting high IL6-AS1 expression. In vitro experimental results showed that IL6-AS1 could be dose-dependently up-regulated by LPS. Inhibiting IL6-AS1 expression could effectively alleviate the decrease in cell activity and increase in apoptosis levels induced by LPS, thereby reducing cell damage and inflammation imbalance. Moreover, IL6-AS1 targeted microRNA-149-5p (miR-149-5p), while miR-149-5p targeted mitogen-activated protein kinase 6 (MAPK6). Further experiments confirmed that concurrent inhibition of miR-149-5p alongside suppression of IL6-AS1 reversed the protective effects mediated by the former. Conversely, simultaneous knockdown of MAPK6 mitigated the cellular damage and inflammatory response induced by miR-149-5p inhibition. CONCLUSIONS: IL6-AS1 aggravated SCAP inflammatory response and cell damage through the miR-149-5p/MAPK6 axis.
Childhood burkitt lymphoma: treatment outcomes, survival, and mortality predictors at two tertiary hospitals in Tanzania.
Nkya H, Shayo A, Machaku D … +3 more , Mmbaga B, Kinabo G, Majaliwa E
BMC Pediatr · 2026 Jun · PMID 42265661 · Full text
BACKGROUND: Burkitt lymphoma (BL) is an aggressive B-cell lymphoma predominantly affecting children in sub-Saharan Africa. It constitutes 50-70% of pediatric non-Hodgkin lymphomas in the region. In Tanzania, understandin...
BACKGROUND: Burkitt lymphoma (BL) is an aggressive B-cell lymphoma predominantly affecting children in sub-Saharan Africa. It constitutes 50-70% of pediatric non-Hodgkin lymphomas in the region. In Tanzania, understanding the treatment outcomes and one-year survival rates at two major oncology centers can inform strategies to enhance survival. METHODOLOGY: This retrospective cohort study analyzed children under 18 diagnosed with Burkitt lymphoma and treated at two tertiary care hospitals between January 2020 and December 2022. The study utilized Stata 18 to analyze data from medical records, focusing on demographic and clinical characteristics, Kaplan-Meier survival analysis, and Cox proportional hazards models to identify mortality predictors. RESULTS: The study analyzed 72 children with Burkitt lymphoma (mean age: 5.8 years), predominantly male (70.8%), with 52.8% from rural areas. Tumor sites were mainly mandibular (47.2%) and abdominal (41.7%). Treatment outcomes varied between hospitals: Kilimanjaro Christian Medical Centre had a higher complete remission rate (61.3%) compared to BMC (36.6%), while BMC experienced higher relapse (19.5%) and treatment abandonment rates (22.0%) than KCMC (6.5% and 3.2%, respectively). The one-year post-treatment survival rate was 75% overall, with a significantly longer mean survival time at KCMC (37.1 months) versus BMC (16.4 months). Key predictors of mortality included bone marrow involvement, adjusted hazard ratio (AHR) = 32.48 and CNS involvement (AHR = 34.00, 95% CI). CONCLUSION: The study reveals a 75% one-year survival rate for children with Burkitt lymphoma in Tanzania. However, this reflects short-term (one-year) survival and cannot be directly compared with the WHO Global Initiative for Childhood Cancer 2030 target, which refers to five-year overall survival. However, high treatment abandonment, relapse, and death rates, along with low complete remission rates, pose significant challenges. Key factors contributing to poor prognosis include CNS and bone marrow involvement. The study recommends comprehensive interventions, improved care access, and exploring alternative treatments like stem cell transplantation.
Thymic evolution on serial CT in glucocorticoid-treated pediatric pneumonia: a retrospective analysis.
Tang J, Yuan D, Fang Y … +3 more , Pan D, Gu S, Lu C
BMC Pediatr · 2026 Jun · PMID 42265652 · Full text
BACKGROUND: The pediatric thymus is sensitive to infection-related stress and glucocorticoid exposure, yet data remain limited on short-term thymic changes on paired chest CT before and after glucocorticoid-containing tr...
BACKGROUND: The pediatric thymus is sensitive to infection-related stress and glucocorticoid exposure, yet data remain limited on short-term thymic changes on paired chest CT before and after glucocorticoid-containing treatment for childhood pneumonia. This study evaluated changes in thymic transverse and anteroposterior diameters and CT attenuation on paired chest CT scans. METHODS: We retrospectively included 90 children with pneumonia who received glucocorticoid-containing therapy and had paired chest CT scans. Two radiologists independently measured the thymic transverse diameter, anteroposterior diameter, and CT attenuation before and after treatment. We used the Wilcoxon signed-rank test to compare pre- and post-treatment thymic parameters, and used age-stratified analysis, Spearman correlation, and multivariable linear regression to explore factors associated with thymic percentage changes. RESULTS: After treatment, thymic transverse diameter decreased from 2.80 cm to 2.40 cm, anteroposterior diameter decreased from 1.20 cm to 0.70 cm, and CT attenuation decreased from 50.00 HU to 37.50 HU; all three parameters were significantly lower after treatment (all P < 0.001). Age-stratified analysis showed that each age group experienced significant reductions in these parameters, with no significant between-group differences in percentage changes. Dose-related analysis showed that cumulative methylprednisolone-equivalent dose and daily methylprednisolone-equivalent dose were weakly negatively correlated with the percentage change in thymic transverse diameter. However, multivariable linear regression indicated that dose metrics were not significantly associated with percentage changes in thymic transverse diameter, anteroposterior diameter, or CT attenuation. CONCLUSION: In children with pneumonia receiving glucocorticoid-containing treatment, short-term follow-up CT showed reductions in thymic transverse diameter, anteroposterior diameter, and CT attenuation. Recognizing these possible short-term thymic changes may help pediatricians and radiologists avoid overinterpreting follow-up CT findings as anterior mediastinal lesions.Given the lack of a non-glucocorticoid control and the potential for severe pneumonia to induce thymic involution, causality cannot be inferred. Thus, thymic CT changes are not validated biomarkers of glucocorticoid exposure or immune function.
Dried blood spot quality in newborn inherited metabolic disease screening in Beijing, 2020-2024: a retrospective analysis of incidence, causes, and improvement strategies.
Gu L, Zhao J, Gong L … +5 more , Tang Y, Li L, Wang S, Yang W, Kong Y
BMC Pediatr · 2026 Jun · PMID 42265634 · Full text
BACKGROUND: This study focuses on assessing the quality of dried blood spots (DBS) for newborn inherited metabolic disease screening in Beijing from 2020 to 2024, identify the causes and risk factors of unqualified DBS,...
BACKGROUND: This study focuses on assessing the quality of dried blood spots (DBS) for newborn inherited metabolic disease screening in Beijing from 2020 to 2024, identify the causes and risk factors of unqualified DBS, and provide evidence-based quality improvement strategies for clinical practice and public health management. METHODS: We retrospectively analyzed all DBS samples collected from all obstetric institutions in Beijing. Data were extracted from the Beijing Newborn Disease Screening Management Information System. Unqualified DBS rates were analyzed by year, season, hospital type, and annual screening volume using chi-square tests, chi-square trend tests, and Bonferroni correction. RESULTS: A total of 714,369 DBS samples were included in the study, of which 1,735 (0.24%) were unqualified. The recall rate for unqualified samples was 98.96%. The unqualified rate declined significantly from 0.33% in 2021 to 0.17% in 2024 (P < 0.001). The leading causes were incorrect/incomplete information filling (30.95%), unclear QR codes (18.44%), and blood seepage rings from repeated dipping (15.33%). The unqualified rate was highest in winter (0.31%, P < 0.001). Non-maternal and child health specialty hospitals had a higher rate than maternal and child health specialty hospitals (0.27% vs. 0.20%, P < 0.001). Institutions with ≤ 1,500 annual screening cases had a markedly higher rate than those with > 1,500 cases (0.40% vs. 0.16%, P < 0.001). CONCLUSIONS: DBS quality in Beijing is at an advanced international level, with a low unqualified rate and high recall rate. However, information-related errors and technical collection problems remain prominent. Targeted strategies include optimizing the information management system, implementing hierarchical training, strengthening three-level quality control, and establishing seasonal early warning mechanisms, particularly for non-maternal and child health hospitals and low-volume institutions.
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