Translational pediatrics最新文献

{"title":"Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.","authors":"Jie Lv, Yan Zhang, Jing He","doi":"10.21037/tp-2026-0615","DOIUrl":"https://doi.org/10.21037/tp-2026-0615","url":null,"abstract":"<p><strong>Background and objective: </strong>Neurodevelopmental disorders (NDDs)-including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), intellectual disability (ID), epilepsy, and schizophrenia-affect approximately 10-15% of children worldwide. Emerging evidence suggests that NDDs arise from complex interactions between genetic susceptibility and environmental insults, particularly during perinatal periods. This narrative review aims to synthesize current evidence on the molecular and circuit-level mechanisms linking perinatal insults and genetic vulnerabilities to NDD pathogenesis, and to propose an integrative framework across epidemiology, genetics, epigenetics, and neurobiology.</p><p><strong>Methods: </strong>We searched PubMed/MEDLINE, Web of Science, and Google Scholar for articles published from January 2000 to April 2026, combining terms for NDDs, genetic susceptibility, perinatal exposures, and molecular mechanisms. We prioritized original research, meta-analyses, systematic reviews, and consortium studies; human studies were given precedence, with animal and organoid studies included only when providing unique mechanistic insights.</p><p><strong>Key content and findings: </strong>The review covers five themes: (I) genetic architecture from rare variants to polygenic risk; (II) gene-environment interplay, distinguishing true interaction from genetic confounding; (III) epigenetic mediation (DNA methylation, histone modifications, noncoding RNAs); (IV) circuit dysfunction from synaptic/ion channel deficits to brain-wide networks (cortex, cerebellum, thalamus, brainstem); and (V) emerging therapeutic strategies with a translational roadmap. Its distinctive innovation lies in integrating these layers across developmental time, proposing epigenetic remodeling as a key molecular transducer linking early insults to persistent circuit dysfunction.</p><p><strong>Conclusions: </strong>Critical gaps persist-ancestry bias, lack of unified quantitative risk models, and limited therapy translation. Future priorities include diversifying genomic cohorts, establishing multi-omic birth cohorts, developing early-detection biomarkers for the perinatal window, and evaluating targeted interventions in genetically defined subgroups. This integrative framework aims to guide developmentally sensitive, precision-oriented approaches to NDD research and clinical care.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"389"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Wangshi Baochi Pill for functional dyspepsia syndrome in infants and toddlers: a multicenter randomized placebo-controlled trial.","authors":"Liping Ye, Lin Zhang, Baoqing Zhang, Xiaoli Xie, Fu Xiong, Ying Ding, Xiaoqin Li, Teng Huang, Jintao Duan, Tao Li, Zhaoxia Wang, Yongmei Zeng, Xiuan Gao, Dongjin Feng, Hongfang Luo, Peiyu Chen, Kuanrong Li, Jing Xie, Junhong Zhao, Wanfu Xu, Yang Cheng, Hongping Chen, Junping Ding, Hui Zhen, Yuanyuan Sun, Lanlan Geng, Sitang Gong","doi":"10.21037/tp-2026-0479","DOIUrl":"https://doi.org/10.21037/tp-2026-0479","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Gastrointestinal discomfort in infants and toddlers is common, yet many cases may not meet the Rome IV diagnostic criteria, posing a challenge to clinical management. To address this gap, Chinese experts have proposed the novel diagnostic entity \"functional dyspepsia syndrome in infants and toddlers\" (FDSIT). Therapeutic options for functional gastrointestinal disorders in infants and toddlers remain considerably limited, particularly with regard to conventional Western pharmacotherapies. Wangshi Baochi Pill (WBP), a traditional Chinese medicine with a long history of pediatric use, has shown efficacy in older children (≥4 years) with functional dyspepsia. However, its efficacy and safety for FDSIT remain unclear. This study aimed to assess the efficacy and safety of WBP in infants and toddlers diagnosed with FDSIT according to the Chinese expert consensus.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This multicenter, randomized, double-blind, placebo-controlled trial was conducted across 15 hospitals in China. Eligible participants aged 1-36 months were randomly assigned (1:1, block size 4) to receive WBP (2 mg/kg twice daily) or a matching placebo for 7 days, with follow-up through day 14. The primary endpoint was the combined symptom effectiveness rate (CSER) at day 7, defined as the proportion of participants achieving a ≥50% reduction in total symptom score across five prespecified symptom domains, each graded on a 4‑point scale. Secondary endpoints included CSER at days 3 and 14, individual symptom remission rates, growth parameters, and adverse events (AEs), which were systematically monitored via diary cards and clinical assessments.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;There were 240 infants and toddlers randomized; 229 were included in the full analytical set (WBP, n=113; placebo, n=116). Baseline characteristics were well balanced. At day 7, CSER was significantly higher in the WBP group than in the placebo group [69.03% &lt;i&gt;vs.&lt;/i&gt; 33.62%; absolute difference 35.41%, 95% confidence interval (CI): 23.30% to 47.51%; χ&lt;sup&gt;2&lt;/sup&gt;=28.72, P&lt;0.001]. Significant improvements with WBP were also observed at day 14 (82.30% &lt;i&gt;vs.&lt;/i&gt; 43.97%; absolute difference 38.33%, 95% CI: 26.89% to 49.79%; χ&lt;sup&gt;2&lt;/sup&gt;=36.04, P&lt;0.001). Symptom remission rates for decreased appetite, belching/abdominal distension/increased flatus, and abnormal defecation were significantly higher in the WBP group at both time points. AEs occurred in 19 (16.81%) WBP-treated participants and 17 (14.53%) placebo recipients (P=0.63). One mild episode of diarrhea (0.88%) in the WBP group was deemed a treatment-related adverse drug reaction. No serious AEs were reported.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;In this trial, WBP demonstrated notable efficacy and a favorable short-term safety profile for the treatment of FDSIT. These findings suggest that WBP may represent a potential therapeutic option, although further confirmatory studies are warranted.&lt;/p&gt;&lt;p&gt;&lt;stron","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"361"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A prospective cross-sectional diagnostic feasibility study: musculoskeletal ultrasound for pediatric bone age evaluation.","authors":"Xingxu Zhou, Yifei Huang, Chunrong Liu, Lingyun Gou, Xiang Yan, Long Zhu, Yanxiu Zhang, Cheng Wang, Wensheng Yue, Hongmei Yuan","doi":"10.21037/tp-2026-0620","DOIUrl":"https://doi.org/10.21037/tp-2026-0620","url":null,"abstract":"<p><strong>Background: </strong>Ultrasonography offers several advantages in medical diagnostics, including the absence of radiation exposure, convenience, and real-time dynamic imaging. In this study, radiographic bone age assessment based on left-hand wrist X-rays was used as the reference standard to evaluate the feasibility and association with radiographic bone age of ultrasound for bone age estimation.</p><p><strong>Methods: </strong>This study was designed as a prospective cross-sectional diagnostic feasibility study. Children who underwent radiographic bone age assessment using left-hand wrist X-rays at a large tertiary hospital were enrolled. 139 children (63 boys and 76 girls) aged 3-16 years were recruited. Within 7 days, ultrasound examinations were performed on the metacarpals and phalanges of the first, third, and fifth fingers, as well as the ulna, radius, and femur. The longitudinal diameters of the ossification centers and epiphyses were measured, and the ossification ratio [OsR = ossification center length/epiphyseal length (d/D)] and skeletal maturity score (SMS) were calculated for each bone.</p><p><strong>Results: </strong>Ultrasound imaging clearly showed the ossification centers and epiphyseal cartilage. Radiographic bone age was correlated with the SMS of the metacarpals, phalanges, ulna, radius, and femur, with the strongest correlation observed between radiographic bone age and the combined skeletal maturity score (CMS) of the ulna, radius, and femur [boys: r=0.961, 95 % confidence interval (CI) 0.936-0.977; P<0.001; girls: r=0.962, 95 % CI: 0.940-0.976; P<0.001]. The URF (ulna + radius + femur) combination demonstrated the highest intraclass correlation coefficient (ICC) values and 95 % CIs in both the inter-observer and the intra-observer assessments, with an ICC of 0.99 and a 95 % CI of 0.98-1.00.</p><p><strong>Conclusions: </strong>In this study, the CMS of the URF were strongly correlated with Tanner-Whitehouse 3 radius-ulna-short bone (TW3-RUS) radiographic bone age, suggesting that ultrasound has potential research value in pediatric bone age assessment. Because agreement and prediction-error analysis was not performed, feasibility and association with radiographic bone age of this examination method for pediatric bone age assessment requires further validation through subsequent large-sample agreement studies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"366"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655913/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multifactorial nutritional and metabolic risk profiles for behavioral outcomes in Chinese children: a cross-sectional study at a Health Management Center using explainable machine learning and principal component analysis.","authors":"Ying Shen, Meiying Gao, Qingnan Sun, Lejing Guan, Lidan Sun, Guannan Bai","doi":"10.21037/tp-2026-0370","DOIUrl":"https://doi.org/10.21037/tp-2026-0370","url":null,"abstract":"<p><strong>Background: </strong>Behavioral problems affect 10-20% of children worldwide. Conventional pediatric assessment of risk factors for behavioral problems relies largely on single-biomarker analysis, which fails to capture the synergistic or antagonistic interactions among nutritional and metabolic factors and is further hampered by multicollinearity among biomarkers. Whether integrated nutritional-metabolic patterns improve risk identification beyond individual biomarkers remains unclear. We therefore combined multivariable regression, explainable machine learning, and principal component analysis (PCA) to identify integrated nutritional-metabolic risk patterns for behavioral problems in children.</p><p><strong>Methods: </strong>This cross-sectional study included 5,468 children aged 6-18 years who underwent comprehensive health check-ups at the Health Management Center of a tertiary Children's Hospital in China between August 2022 and December 2025 and who had complete biomarker and behavioral data. Blood magnesium, iron, copper, zinc, and lead were measured by inductively coupled plasma mass spectrometry (ICP-MS); triglycerides (TG), calcium, and phosphorus by enzymatic or colorimetric assays; and 25-hydroxyvitamin D [25(OH)D] by chemiluminescent immunoassay (CLIA). Behavioral problems were assessed using the Conners' Parent Rating Scale (CPRS) based on Chinese norms. Covariates (age, sex, and body mass index) were obtained from standardized anthropometric measurements. Multivariable logistic regression, XGBoost with SHapley Additive exPlanations (SHAP), and PCA were applied.</p><p><strong>Results: </strong>Among the participants (median age 9.41 years; 61.5% males), 624 (11.41%) had behavioral problems. Higher blood lead [odds ratio (OR) 2.26, 95% confidence interval (CI): 1.51-3.37] and TG (OR 1.77, 95% CI: 1.10-2.82) were associated with increased odds of behavioral problems, whereas iron was protective (OR 0.06, 95% CI: 0.01-0.39). SHAP analysis ranked lead, iron, vitamin D, and TG as the most influential predictors. PCA derived four patterns; Pattern 4 (lead exposure-nutritional antagonism: elevated lead with low calcium and vitamin D) showed the strongest, dose-response association (highest <i>vs.</i> lowest tertile: OR 1.65, 95% CI: 1.34-2.04; P_trend <0.001).</p><p><strong>Conclusions: </strong>In this health check-up sample, a pattern characterized by elevated lead combined with insufficient calcium and vitamin D was associated with behavioral problems in a dose-response manner. Although causality cannot be inferred, pattern-based nutritional-metabolic profiling during routine pediatric check-ups may help identify children who could benefit from closer behavioral monitoring, nutritional optimization, and lead exposure reduction.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"371"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655821/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with drug-resistant epilepsy in children with epilepsy: a retrospective cohort study.","authors":"Qunyan Su, Yandan Yin, Haiying Cheng, Yinghua Yan, Jingjing Jin, Yiping Shao, Jiangyin Sheng, Anqian Tao, Guiying Ruan, Licheng Cui, Jianhua Feng","doi":"10.21037/tp-2026-0593","DOIUrl":"10.21037/tp-2026-0593","url":null,"abstract":"<p><strong>Background: </strong>Drug‑resistant epilepsy (DRE) remains a major clinical challenge in children. Understanding clinical factors associated with drug resistance is important for guiding management. We aimed to investigate factors independently associated with DRE in a large cohort of children with epilepsy.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted on children with confirmed epilepsy who received regular follow‑up at two tertiary pediatric epilepsy centers. Patients were classified into DRE [failure of ≥2 adequate anti-seizure medications (ASMs) trials] and non‑DRE groups according to ILAE criteria. Baseline demographic, clinical, electroencephalographic, neuroimaging, and treatment‑related variables were collected. Univariate and multivariate logistic regression analyses were performed to identify factors independently associated with DRE. Treatment‑related variables (number of ASMs tried, maximum concurrent ASMs, and polytherapy at last follow‑up) were excluded from the multivariable model due to their intrinsic relationship with the definition and clinical consequences of DRE. Model discrimination was evaluated using the area under the receiver operating characteristic (ROC) curve (AUC), and calibration was assessed by the Hosmer‑Lemeshow test. The 95% confidence intervals (CIs) for performance metrics were obtained via bootstrap resampling.</p><p><strong>Results: </strong>A total of 412 children were enrolled, including 100 (24.3%) with DRE. Children with DRE had significantly younger age at onset (4.30±3.40 <i>vs.</i> 6.01±3.50 years, P<0.001), higher baseline seizure frequency, more frequent status epilepticus, neurodevelopmental disorders, and psychiatric comorbidities (all P<0.05). In multivariable analysis excluding treatment‑related variables, generalized seizure type (<i>vs.</i> focal) [adjusted odds ratio (OR) =0.20; 95% CI: 0.04-0.62; P=0.01), history of status epilepticus (adjusted OR =4.86; 95% CI: 2.15-11.13; P<0.001), neurodevelopmental disorder (adjusted OR =3.40; 95% CI: 1.49-7.85; P=0.004), structural etiology (<i>vs.</i> genetic) (adjusted OR =0.25; 95% CI: 0.07-0.92; P=0.040), and older age at onset (adjusted OR =0.91; 95% CI: 0.82-1.00; P=0.046) were independently associated with DRE. The model showed moderate discriminative ability (AUC =0.802; 95% CI: 0.751-0.872).</p><p><strong>Conclusions: </strong>In this retrospective cohort, seizure type, history of status epilepticus, neurodevelopmental disorder, structural etiology, and older age at onset were independently associated with DRE after excluding treatment‑related variables. These findings suggest that true baseline independently associated variables of DRE are limited, and the diagnosis of DRE itself-failure of two adequate ASM trials-remains the most practical indicator for considering non‑pharmacological therapies. External validation is needed before clinical application.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"376"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors for acute gastrointestinal injury after cardiac surgery in underweight children with congenital heart disease: a single-center retrospective study.","authors":"Tianyu Gao, Yu Jin, Qindong Liu, Jia Liu, Yue Liu, Jinping Liu","doi":"10.21037/tp-2026-0682","DOIUrl":"https://doi.org/10.21037/tp-2026-0682","url":null,"abstract":"<p><strong>Background: </strong>Acute gastrointestinal injury (AGI) is an underrecognized complication after cardiac surgery in children with congenital heart disease (CHD), particularly in those with low body weight. This study aimed to identify independent risk factors for postoperative AGI in underweight children (≤10 kg) undergoing CHD surgery.</p><p><strong>Methods: </strong>This single‑center retrospective study enrolled 386 underweight children who underwent CHD surgery between October 2021 and July 2022. Patients were divided into AGI and non‑AGI groups based on postoperative occurrence. Multivariate binary logistic regression was performed to identify independent risk factors.</p><p><strong>Results: </strong>Of the 386 enrolled patients, 91 cases (23.6%) developed clinically significant postoperative AGI. Multivariate analysis demonstrated that the minimum intraoperative rectal temperature (P=0.002) was an independent risk factor. In addition, patients with AGI had significantly longer duration of mechanical ventilation, longer intensive care unit (ICU) stay and longer overall hospital stay (all P<0.001). They also presented with higher transfusion requirements and a higher rate of extubation failure (P<0.001).</p><p><strong>Conclusions: </strong>The minimum intraoperative rectal temperature is an independent risk factor for AGI in underweight children with CHD. Early identification of this factor facilitates risk stratification and guides targeted perioperative gastrointestinal protection strategies, thereby improving therapeutic outcomes in this high‑risk population.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"375"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The motor endplate band as an optimal target for botulinum toxin in congenital torticollis: evidence from a rabbit model.","authors":"Ren Chen, Ji Zhang, Rurong Duan, Jinglan Fan, Hong Chen","doi":"10.21037/tp-2026-0659","DOIUrl":"https://doi.org/10.21037/tp-2026-0659","url":null,"abstract":"<p><strong>Background: </strong>Botulinum neurotoxin type A (BoNT-A) is an established minimally invasive treatment for congenital muscular torticollis (CMT); however, current injection strategies rely on empirical anatomical landmarks rather than precise functional targets. Accurate localisation of the sternocleidomastoid muscle (SCM) motor endplate band may improve treatment efficacy by optimising toxin delivery. We aimed to investigate the therapeutic efficacy of BoNT-A injection targeting the motor endplate band of the SCM, as localised by acetylcholinesterase (AChE) whole-muscle staining, in the treatment of CMT.</p><p><strong>Methods: </strong>Twelve adult New Zealand rabbits underwent AChE whole-muscle staining to reveal the distribution pattern of the SCM motor endplate band. Forty-eight rabbits were randomised into four equal groups: a normal group, a model group (ethanol-induced CMT fibrosis), a conventional injection group (BoNT-A injection at the fibrotic induration), and a motor endplate band injection group (BoNT-A injection at the centre of the motor endplate band). One week after BoNT-A injection, spiral computed tomography (CT) was performed to measure SCM length. Haematoxylin and eosin (H&E) and Masson's trichrome staining were used to assess muscle fibre cross-sectional area (CSA) and collagen deposition, respectively. Western blotting was employed to detect the protein expression of alpha-smooth muscle actin (α-SMA) and muscle RING-finger protein-1 (MuRF-1).</p><p><strong>Results: </strong>AChE staining revealed that the motor endplate band was distributed between 20.25%±0.31% and 49.36%±0.41% of the SCM length, with its geometric centre located at 30.07%±0.44% of the muscle length. Two weeks after ethanol-induced modelling, the model group exhibited shortened SCM length, an elevated collagen area ratio, and upregulated α-SMA expression, confirming the successful establishment of the CMT fibrosis model. Following BoNT-A injection at different targets, the motor endplate band injection group demonstrated greater SCM length, lower collagen area ratio, lower α-SMA expression, and higher MuRF-1 expression compared with the conventional injection group; all differences were statistically significant.</p><p><strong>Conclusions: </strong>The motor endplate band of the SCM is a promising and anatomically defined target for BoNT-A injection in the treatment of CMT. The targeted injection strategy guided by the motor endplate band was associated with significantly greater anti-fibrotic efficacy compared with the conventional injection strategy in suppressing muscle fibrosis and improving muscle function.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"378"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning prediction model for distant metastasis at diagnosis in pediatric neuroblastoma: development, interpretation, and temporal validation.","authors":"Hao Qiu, Lili Zhuang, Jinxing Dai, Qianjin Shi, Lei Ding, Weibing Qiu","doi":"10.21037/tp-2026-0650","DOIUrl":"https://doi.org/10.21037/tp-2026-0650","url":null,"abstract":"<p><strong>Background: </strong>Distant metastasis (DM) at diagnosis is a key determinant of risk stratification, treatment intensity and prognosis in pediatric neuroblastoma (NB). However, an interpretable risk-estimation tool based only on routinely available variables at diagnosis or during baseline diagnostic/pathological assessment and assessed through temporal validation remains limited. This study aimed to develop and temporally validate an interpretable machine-learning model for estimating DM risk at diagnosis.</p><p><strong>Methods: </strong>We constructed a population-based pediatric cancer registry cohort of patients aged 0-19 years with NB or ganglioneuroblastoma (GNB). The primary outcome was DM at diagnosis. Candidate predictors were restricted to demographic and tumor-related variables available at diagnosis or during baseline diagnostic/pathological assessment, while surgery, radiotherapy and chemotherapy were excluded to reduce information leakage. Feature selection integrated univariable logistic regression, least absolute shrinkage and selection operator (LASSO) regression, Boruta and prespecified clinical retention rules. Patients diagnosed during 2000-2017 formed the development cohort, which was stratified 7:3 into training and internal validation sets; patients diagnosed during 2018-2023 formed the temporal validation cohort. Seven algorithms were compared. Shapley Additive Explanations (SHAP) analysis and decision curve analysis (DCA) were used to assess model interpretability and net benefit.</p><p><strong>Results: </strong>The primary cohort included 3,837 patients, of whom 1,998 (52.1%) had DM at diagnosis. Light gradient boosting machine (LightGBM) was selected as the final model. It achieved an area under the receiver operating characteristic curve (AUC) of 0.775 [95% confidence interval (CI): 0.743-0.804] in internal validation and 0.802 (95% CI: 0.774-0.829) in temporal validation with Brier scores of 0.193 and 0.181, respectively. In temporal validation, sensitivity and specificity were 0.750 and 0.729. DCA suggested net benefit across a range of threshold probabilities. SHAP analysis identified laterality, age at diagnosis, histologic subtype, tumor size and regional lymph nodes examined as leading model-contributing features. A prototype web-based calculator was developed for research-oriented visualization of model predictions. In an exploratory secondary analysis, lung metastasis was associated with higher 36-month mortality odds among patients with DM.</p><p><strong>Conclusions: </strong>A LightGBM model based on routinely available variables at diagnosis or during baseline diagnostic/pathological assessment showed stable discrimination and calibration for estimating DM risk in pediatric NB. This tool may support research-oriented early risk stratification, but independent external and prospective validation is required before clinical use.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"388"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Twelve-month outcomes and exploratory outcome indicators after iRoot BP Plus pulpotomy in primary molars: a retrospective real-world cohort study.","authors":"Zhimin Ding, Fei Yan, Liyun Zhai, Shengnan Lu, Xiya Ma, Ning Yao","doi":"10.21037/tp-2026-0649","DOIUrl":"https://doi.org/10.21037/tp-2026-0649","url":null,"abstract":"<p><strong>Background: </strong>Deep caries in primary molars threatens pulpal health, and treatment choices should balance infection control with tooth retention. This retrospective cohort study described 12-month outcomes of primary molar pulpotomy using iRoot BP Plus (BP), while calcium hydroxide [Ca(OH)₂]-treated teeth were described only as a non-comparable institutional context. Potential BP-group outcome indicators were explored in a hypothesis-generating manner.</p><p><strong>Methods: </strong>Children aged 3-10 years who received pulpotomy between September 2022 and January 2025 were included if baseline and treatment records were complete, with the tooth as the analytic unit. The 12-month outcome analysis was restricted to teeth with evaluable follow-up records within a 10-14-month window. Biological success was adjudicated from clinical follow-up records and available radiographs within the 10-14-month window; radiographic assessment was not available for all evaluable teeth. Restoration complications were assessed only among biologically successful teeth. Within BP-treated teeth, preoperative symptoms, hemostasis time (<1 <i>vs.</i> ≥1 min), and pulp exposure size were summarized descriptively as exploratory indicators. A three-item cumulative indicator count was described as hypothesis-generating only.</p><p><strong>Results: </strong>Sixty-seven children contributed 122 primary molars [BP, 81; Ca(OH)₂, 41]. At 12 months, 109/122 teeth were evaluable [BP, 80/81; Ca(OH)₂, 29/41], and 107/109 had radiographs. Among evaluable BP-treated teeth, biological success was 95.0% (76/80), with 2/80 adjudicated clinically only. Restoration complications occurred in 3.9% of biologically successful BP-treated teeth (3/76). Ca(OH)₂-treated teeth showed 100.0% biological success among evaluable teeth (29/29), but this estimate was limited by non-randomized allocation, baseline imbalance, and lower follow-up completeness. Within BP-treated teeth, the four biological failures were descriptively observed in teeth with documented symptoms, longer hemostasis time, and larger pulp exposure size.</p><p><strong>Conclusions: </strong>Among evaluable BP-treated teeth, the observed 12-month biological success proportion was 95.0% within guideline-based indications. The BP-group indicator patterns were descriptive and hypothesis-generating, and require external validation.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"383"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and internal validation of an exploratory clinical prediction model for MRI-defined white matter injury in moderate-to-late preterm infants: a single-center retrospective study.","authors":"Huiyue Zhang, Jinju Shi, Yanni Xu, Shaoru Zheng, Cuimin Su","doi":"10.21037/tp-2026-0503","DOIUrl":"https://doi.org/10.21037/tp-2026-0503","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Moderate-to-late preterm (MLPT) infants (32-36&lt;sup&gt;+6&lt;/sup&gt; weeks of gestation) account for approximately 84% of preterm births. Although white matter injury (WMI) may lack obvious early neurological manifestations, it has been associated with adverse neurodevelopmental outcomes. In this cohort, magnetic resonance imaging (MRI)-detected WMI occurred in 20.9% of MLPT infants. Brain MRI is important for WMI detection, but its use for early screening is limited by accessibility and examination timing. Previous WMI prediction models have mainly focused on extremely preterm infants, with limitations in population heterogeneity, sample size, outcome definitions, calibration, and validation. This study aimed to identify clinical predictors of MRI-defined WMI and develop and internally validate a clinical risk prediction model for early risk stratification in MLPT infants.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This single-center retrospective study included infants born at 32-36&lt;sup&gt;+6&lt;/sup&gt; weeks who underwent 3.0-T brain MRI at 7-14 days of life between June 2023 and May 2025 at Jinjiang Municipal Hospital (Shanghai Sixth People's Hospital, Fujian). Of 208 eligible infants, 7 were excluded because of missing key predictors, resulting in 201 infants. MRI-defined binary WMI was assessed independently by two blinded radiologists according to the Miller grading system. Maternal, delivery-related, and neonatal variables available before MRI were evaluated as candidate predictors. Synthetic Minority Over-sampling Technique (SMOTE) was used to address class imbalance, and recursive feature elimination with cross-validation (RFECV) was applied for feature selection. Multivariable logistic regression and classification and regression tree (CART) models were developed and internally validated using 1,000 bootstrap resampling iterations with optimism correction. Model performance was assessed using discrimination, calibration, Brier score, and classification metrics.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of the 201 infants included in the final analysis, 42 (20.9%) were diagnosed with WMI, and 159 (79.1%) were classified as non-WMI. RFECV selected 14 candidate predictors for model construction. Following bootstrap optimism correction, the logistic regression model demonstrated an area under the receiver operating characteristic curve (AUC) of 0.62 (95% CI: 0.53-0.70). The model achieved an accuracy of 0.74 (95% CI: 0.68-0.80), sensitivity of 0.00 (95% CI: 0.00-0.09), specificity of 0.94 (95% CI: 0.89-0.98), PPV of 0.09 (95% CI: 0.00-0.41), NPV of 0.78 (95% CI: 0.72-0.83), and a Brier score of 0.18 (95% CI: 0.15-0.22). Calibration assessment showed a calibration intercept of 0.00 (95% CI: -0.42 to 0.44) and a calibration slope of 0.51 (95% CI: 0.27-0.81).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;In this study, we developed and internally validated an exploratory prediction model for MRI-defined WMI among MLPT infants using a complete-case cohort fro","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"15 9","pages":"370"},"PeriodicalIF":2.0,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13655840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}