World Journal of Pediatrics最新文献

{"title":"Waist-to-height ratio as a practical indicator for screening pediatric metabolic dysfunction-associated steatotic liver disease in diverse populations and genetic backgrounds.","authors":"Yun-Fei Liu, You-Xin Wang, Li Li, Di Shi, Maike Wolters, Ping-Ping Zhang, Jia-Jia Dang, Shan Cai, Tian-Yu Huang, Ya-Qi Wang, Jie-Yu Liu, Ming-Yue Wang, Yu-Ying Wu, Enkar Nur, Wen-Jia Lian, Li-Po Guo, Yuan-Yuan Li, Jie-Yun Song, Jing Li, Yan-Hui Dong, Yan-Chun Cui, Antje Hebestreit, Yee Hui Yeo, Susan M Sawyer, Hui Wang, Yi Song","doi":"10.1007/s12519-026-01084-9","DOIUrl":"10.1007/s12519-026-01084-9","url":null,"abstract":"<p><strong>Background: </strong>Metabolic dysfunction-associated steatotic liver disease (MASLD) is the leading chronic liver disease in children and adolescents; this parallels the global obesity epidemic. The contribution of genetic susceptibility to pediatric MASLD, and its interaction with anthropometric and biochemical indices used for non-invasive screening remains poorly understood. We aimed to evaluate waist-to-height ratio (WHtR) as a simple, equitable, and scalable tool for early identification of pediatric MASLD and relate this to genetic risk.</p><p><strong>Methods: </strong>We combined school-based data from 1010 Chinese children with analyses of the Global Burden of Disease, the 1000 Genomes Project, and the US National Health and Nutrition Examination Survey (NHANES). Thirteen MASLD-related single-nucleotide polymorphisms (SNPs) were genotyped to construct a genetic risk score (GRS). We examined global epidemiological patterns, quantified inter-population allele divergence, and assessed how GRS modifies cutoffs and performance of nine anthropometric and biochemical indices.</p><p><strong>Results: </strong>Genetic analysis revealed minimal frequency divergence across most ancestries (mean Fixation index < 0.05), except for the African ancestry where there was moderate divergence. Higher GRS were associated with lower cutoffs across indices. When GRS Z-score increased from -3 to 3, visceral adiposity index showed the sharpest changes (Z-score decreased from 1.5 to -1.8), while BFP (1.2 to 0.1) and WHtR (1.5 to 0.1) showed gradual change. Furthermore, incorporating GRS into the base anthropometric models yielded only marginal improvements in overall screening performance [area under the receiver operating characteristic curve (AUC) and Youden Index]. Validation in NHANES showed WHtR ≥ 0.48 retained high discrimination (AUC > 0.87) across most genetic variants.</p><p><strong>Conclusions: </strong>This study suggests that WHtR is a consistent and practical tool for screening pediatric patients with MASLD across diverse populations. While genetic variation may influence optimal thresholds, WHtR ≥ 0.48 appears broadly applicable, supporting its potential use as a frontline screening metric in diverse settings.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"805-818"},"PeriodicalIF":7.3,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148851561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transplantation of encapsulated fecal microbiota: research progress and future trends.","authors":"Mei-Le Lin, Hai-Nv Gao","doi":"10.1007/s12519-026-01056-z","DOIUrl":"https://doi.org/10.1007/s12519-026-01056-z","url":null,"abstract":"<p><strong>Background: </strong>Fecal microbiota transplantation (FMT) demonstrates significant efficacy in treating intestinal disorders, such as recurrent Clostridioides difficile infection (rCDI). However, traditional FMT relies on invasive delivery methods (e.g., colonoscopy or use of a nasoenteric tube) and lacks standardized donor screening, limiting its widespread clinical adoption and scalability. As a key formulation of live biotherapeutic products (LBPs), encapsulated FMT represents a transition from empirical microbial transfer to engineered biotherapeutics, offering a safer and more convenient approach for clinical application.</p><p><strong>Data sources: </strong>This review synthesizes, compares, and integrates data in a narrative fashion from PubMed and the China National Knowledge Infrastructure.</p><p><strong>Results: </strong>Research on encapsulated FMT in adults has progressed toward standardization and the exploration of new indications. In contrast, pediatric studies remain primarily focused on rCDI treatment and lack large-scale randomized controlled trials. Evolution toward encapsulated, standardized products is driving a shift from whole-community microbial formulations toward more defined consortia and, ultimately, synthetic biology-based innovations. Concurrent significant regulatory challenges persist, as definitions of LBPs remain inconsistent and clear, harmonized international guidelines are yet to be established.</p><p><strong>Conclusions: </strong>This review summarizes progress and emerging research priorities in encapsulated FMT while also examining current regulatory challenges and innovative directions within the LBP framework. Future developments are poised to advance encapsulated FMT from whole-community transplantation toward the precise modulation of functional microbial consortia. This progression will help drive microbial therapeutics toward greater standardization and personalization, offering improved treatment strategies for intestinal and other microbiome-associated diseases.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":4.5,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148253558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Propranolol monotherapy versus propranolol plus prednisone for diffuse infantile hepatic haemangioma: a randomized clinical trial.","authors":"Yu-Ru Lan, Zi-Xin Zhang, Lin-Yu Yang, Min Yang, Tong Qiu, Kai-Zhi Zhang, Jiang-Yuan Zhou, Xue Gong, Xue-Peng Zhang, Chun-Shui He, Qiang Peng, Fang Hou, Wei Shan, Ping-Qian Bao, Chun-Chao Xia, Si-Yuan Chen, Yi Ji","doi":"10.1007/s12519-026-01070-1","DOIUrl":"10.1007/s12519-026-01070-1","url":null,"abstract":"<p><strong>Background: </strong>Oral propranolol, with or without corticosteroids, has been shown to benefit diffuse infantile hepatic haemangioma (IHH); randomized trial evidence is lacking. We aimed to evaluate the efficacy and safety of propranolol monotherapy versus propranolol plus prednisone for the treatment of problematic IHHs to determine whether oral prednisone provided an added benefit to propranolol.</p><p><strong>Methods: </strong>We conducted an open-label, multicenter, randomized controlled trial across six referral centers in China from July 2019 to November 2023 (clinicaltrials.gov registration: NCT03331744). Infants with problematic diffuse IHH were assigned (1:1) to oral propranolol alone or propranolol plus a short course of prednisone. The primary endpoint was the proportion of patients who achieved a lesion response at week 4 on serial ultrasound. Analyses followed the intention-to-treat principle.</p><p><strong>Results: </strong>Forty-five patients were included in this study (propranolol, n = 22; propranolol plus prednisone, n = 23). Four weeks following treatment, lesion response rates were higher with propranolol plus prednisone than with propranolol alone [21/23 (91.3%) vs. 13/22 (59.1%); difference: 32.2%; 95% confidence interval (CI) = 6.9%-53.5%; P = 0.007]. Compared with monotherapy, combination therapy yielded higher lesion response rates during weeks 1-3, more rapid stabilization of thyroid-stimulating hormone levels during weeks 2-4, and a greater overall volumetric response at month 6 (91.3% vs. 63.6%; difference: 27.7%; 95% CI = 3.1%-49.3%; P = 0.026). Total adverse events were similar between the groups, and no grade 3-4 adverse events were observed.</p><p><strong>Conclusions: </strong>Addition of prednisone to propranolol in patients with diffuse IHH markedly improved lesion response rates. Propranolol plus prednisone represents a valid treatment for diffuse IHH.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"655-663"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148449540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BMI-for-age Z-score trajectories in early childhood: a comparison of GMM and KML and associated antenatal and postnatal factors.","authors":"Ting Zhang, Zi-Yun Li, Zhen-Yu Zhang, Mai Gao, Li Zhang, Hui-Juan Liu, Hai-Jun Wang, Yan Li","doi":"10.1007/s12519-026-01057-y","DOIUrl":"10.1007/s12519-026-01057-y","url":null,"abstract":"<p><strong>Background: </strong>Early-life growth trajectories, especially during the first two years, are important for future health. However, in the context of rapidly rising childhood obesity, it is essential to characterize BMI-for-age Z-score (BAZ) trajectories in early childhood, compare optimal modeling approaches, and identify associated risk factors.</p><p><strong>Methods: </strong>This prospective birth cohort study enrolled participants in Jinan, Shandong from 2019 to 2022. World Health Organization (WHO)-standardized BAZ scores were calculated for children at eight timepoints (0-24 months). Sex-specific BAZ trajectories were derived using growth mixture modeling (GMM) and k-means for longitudinal data (KML). The possible risk of being overweight (BAZ > 1) at age three years was predicted using logistic regression with five folds cross-validation, comparing model performance via the area under the curve (AUC). Associations between trajectory classification and antenatal and postnatal factors were examined.</p><p><strong>Results: </strong>A total of 4629 mother-infant dyads were enrolled in this study. The KML-derived four-class trajectory model demonstrated optimal predictive performance for possible risk of being overweight at age three years, achieving an AUC of 0.749 and significantly outperforming the GMM model (AUC = 0.571). Male sex [odds ratio (OR) = 1.314; 95% confidence interval (95% CI): 1.098, 1.572], high birth weight (OR = 4.739; 95% CI: 3.594, 6.250), multiparity (OR = 1.265; 95% CI: 1.003, 1.594), and gestational hypertension (OR = 2.581; 95% CI: 1.387, 4.801) were identified as risk factors for high growth trajectory.</p><p><strong>Conclusions: </strong>The KML model was identified as the more effective approach for delineating BAZ trajectories and predicting the risk of being overweight in our study population. Furthermore, male sex, high birth weight, multiparity, and gestational hypertension were identified as key antenatal and postnatal factors associated with higher growth trajectories.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"664-677"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148563068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dual biologics or combination therapy with small molecules in pediatric inflammatory bowel disease: a systematic review and meta-analysis.","authors":"Bing-Li Huo, A-Long Zhao, Wei Liu, Lian-Fei Ma, Xi-Rong Luo","doi":"10.1007/s12519-026-01055-0","DOIUrl":"10.1007/s12519-026-01055-0","url":null,"abstract":"<p><strong>Background: </strong>Multiple clinical studies have confirmed that combining biologics and/or small molecules (tofacitinib or upadacitinib) exhibits favorable efficacy and manageable safety in adult patients with inflammatory bowel disease (IBD). However, data on the application of this therapy in pediatric IBD are limited and lack systematic integration and analysis. This study aims to evaluate the safety and efficacy of combining biologics and/or small molecules for the treatment of pediatric IBD and provide high-quality evidence-based guidance for pediatric clinical treatment decision making.</p><p><strong>Methods: </strong>We systematically searched multiple databases from inception to January 1, 2026 and included all studies that used combination therapy with biologics and/or small molecules in pediatric IBD. We conducted a pooled analysis of clinical remission rate, endoscopic remission rate, adverse event incidence, pediatric ulcerative colitis activity index (PUCAI) scores, pediatric Crohn's disease activity index (PCDAI) scores, and changes in laboratory parameters.</p><p><strong>Results: </strong>A total of 12 studies meeting the inclusion criteria were included in the analysis, involving 217 pediatric patients with IBD. All patients had failed treatment with at least one biologic agent or immunomodulator. The primary treatment regimens included anti-tumor necrosis factor (TNF)-α + vedolizumab (accounting for 37.2%) and anti-TNF-α + ustekinumab (accounting for 28.6%). The pooled clinical remission rate was 69% [95% confidence interval (CI) = 52%-84%], the endoscopic remission rate was 51% (95% CI = 18%-83%), and the corticosteroid-free remission rate was 66% (95% CI = 41%-88%). Significant reductions were observed in C-reactive protein, fecal calprotectin, and erythrocyte sedimentation rate, as well as in PCDAI and PUCAI scores. The pooled adverse event rate was 17% (95% CI = 6%-31%), with infection being the most common. Pooled rate of serious adverse events was 11% (95% CI = 4%-20%), with no reported cases of malignancy or fatality. The clinical remission rate for ulcerative colitis was lower than that for Crohn's disease, and the incidence of adverse events was higher, although these differences were not statistically significant.</p><p><strong>Conclusions: </strong>For pediatric patients with IBD that is unresponsive to monotherapy, combining biologics and/or small molecules may represent an effective and relatively safe treatment option, achieving high clinical remission rates and improvements in biological markers. However, high-quality prospective studies are needed to confirm long-term efficacy and safety.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"643-654"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148370078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Repeat community-based screening for school-age congenital heart disease: impact on the detection of cases requiring treatment in resource-limited settings.","authors":"Kai Bai, Shu-Yue Zhang, Teng Wang, Yan Wang, Yue Gao, Feng-Shu-Yue Li, Tao Wang, Miao Zhao, Wei Luo, Yu-Ling Lu, Li-Ping He, Jiang Lu, Yu Xia, Lin Duo","doi":"10.1007/s12519-026-01060-3","DOIUrl":"10.1007/s12519-026-01060-3","url":null,"abstract":"<p><strong>Background: </strong>School-based screening is a critical strategy for detecting congenital heart disease (CHD) in resource-limited regions, yet single-round programs may miss a substantial number of treatable cases. The value of repeat screening in identifying these missed cases remains underexplored.</p><p><strong>Methods: </strong>As part of the Yunnan Provincial Comprehensive Plan for CHD Prevention and Control, we conducted two rounds of community-based CHD screening using cardiac auscultation followed by portable echocardiography in 23 counties. The first round (2017-2020) screened 1,024,998 children aged 3-18 years, and the second round (2021-2025) screened 1,059,156 children after intervals of 4, 5, 6, or 7 years. Children with CHD requiring treatment were identified and categorized by screening history.</p><p><strong>Results: </strong>The first screening detected 938 cases (prevalence: 0.92/1000), while the second screening detected 557 cases (prevalence: 0.53/1000). Of note, a significant proportion of cases identified in the second round represented missed diagnoses from the first screening. When comparing these missed cases (\"previously covered\") to the true new cases identified in the second round (\"newly covered\"), the \"newly covered\" cases were younger and had lower odds of moderate or great anatomical complexity [adjusted odds ratio (OR) for moderate complexity: 0.58, 95% confidence interval (CI) = 0.36-0.92; adjusted OR for great complexity: 0.29, 95% CI = 0.11-0.71].</p><p><strong>Conclusions: </strong>Repeat school-based screening identifies a distinct group of previously missed and newly covered CHD cases, many of which are of higher anatomical complexity and would otherwise remain undiagnosed. These findings underscore the necessity for periodic rescreening to mitigate diagnostic gaps and improve CHD outcomes in resource-limited populations.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"691-701"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneity of the prevalence of congenital hip dislocation in Europe.","authors":"Ester Garne, Anke Rissmann, Carlos Matias Dias, Carlotta Buzzoni, Catherine Lynch, Christine Dumoulin, Clara Cavero-Carbonell, David Tucker, Dieuwke Broekstra, Elisa Ballardini, Elly Den Hond, Florence Rouget, Francisco Rodriguez-Rasero, Ianis Cousin, Isabelle Monier, Joan Morris, Joanna Sichitiu, Kari Klungsøyr, Ljubica Odak, Marilena Ceresola, Mary O'Mahony, Michele Santoro, Nataliia Zymak-Zakutnia, Rachel Wood, Riccardo Pertile, Sarah Stevens","doi":"10.1007/s12519-026-01047-0","DOIUrl":"10.1007/s12519-026-01047-0","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"702-706"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of plyometric-based high-intensity interval training on muscle-to-fat ratio in children: protocol for a randomized controlled trial in primary school settings.","authors":"Ying Liu, Bjorn T Tam, Sin-Yee Chan, Yu-Ying Wang, Ke-Wen Wan, Wing-Lam Chung, Asefa Adimasu Taddese, Ka-Yin Chan","doi":"10.1007/s12519-026-01064-z","DOIUrl":"10.1007/s12519-026-01064-z","url":null,"abstract":"<p><strong>Background: </strong>Childhood obesity is associated with cardiometabolic and musculoskeletal health risks. Because fat reduction may be accompanied by loss of skeletal muscle, this trial aims to evaluate whether a plyometric-based high-intensity interval training (Plyo-HIIT) program improves muscle-to-fat ratio (MFR) in children aged 9-12 years.</p><p><strong>Methods: </strong>This pragmatic, assessor-blinded, three-arm randomized controlled trial will recruit 210 children aged 9-12 years from primary schools in Hong Kong, China. Participants will be randomly assigned to Plyo-HIIT, structured fitness (SF) program, or the health education (HE) control group in a 1:1:1 ratio. Each group will engage in two 45-minute weekly sessions for 16 weeks. The Plyo-HIIT program involved developmentally appropriate plyometric exercise (e.g., jumping, skipping). The SF program includes moderate- to high-intensity activities maintaining 60%-80% of maximal heart rate. The HE group will receive weekly health education sessions. Outcomes will be assessed at baseline, post-intervention (16 weeks), and at 6-month follow-up. The primary outcome will be MFR measured using magnetic resonance imaging. Secondary outcomes will include body composition, muscular fitness, cardiorespiratory fitness, flexibility, body mass index, physical activity, and cortisol levels.</p><p><strong>Results: </strong>Participant recruitment was conducted between September 26, 2024, and March 14, 2025. The 16-week intervention has been completed. However, as one participating cohort delayed the start date of the intervention, the 6-month follow-up assessments are still ongoing, with the final follow-up assessment scheduled for August 2026. No trial outcome data are reported in this protocol article.</p><p><strong>Conclusions: </strong>This study is expected to provide evidence for the effectiveness of Plyo-HIIT in improving body composition by increasing the muscle-to-fat ratio among school-age children. This will support the integration of Plyo-HIIT training into school-based physical activity programs, offering a practical and time-efficient strategy to prevent early-onset obesity. By comparing Plyo-HIIT with the SF and HE groups, this study may further demonstrate the value of plyometric training for primary school settings.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"678-690"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148498049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sustained suppression of measles in China despite a global resurgence: drivers, risks, and strategic preparedness.","authors":"Chun-Zhen Hua, Xiang Ma, Meng-Yang Guo, Si-Yu Chen, Kai-Hu Yao","doi":"10.1007/s12519-026-01081-y","DOIUrl":"10.1007/s12519-026-01081-y","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"603-612"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148593625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of CHD chromatin remodelers in heart development.","authors":"Si-Yu Sun, Zhi-Yu Feng, Wei Sheng, Guo-Ying Huang","doi":"10.1007/s12519-026-01049-y","DOIUrl":"10.1007/s12519-026-01049-y","url":null,"abstract":"<p><strong>Background: </strong>Chromodomain helicase DNA-binding (CHD) proteins are ATP-dependent chromatin remodelers that regulate chromatin accessibility, genome organization, and lineage-specific transcription during embryonic development. There are nine members of this family of proteins. Increasing genetic and functional evidence links mutations in multiple CHD genes to congenital-heart disease, arrhythmias, and cardiomyopathies. However, the stage-specific contributions of individual CHD-family members to cardiac development and functional maturation remain incompletely defined.</p><p><strong>Data sources: </strong>This narrative review summarizes studies retrieved from the PubMed database that investigate CHD chromatin remodelers in heart development and cardiac disease, with an emphasis on genetic models, developmental analyses, and recent multi-omics approaches.</p><p><strong>Results: </strong>Available evidence indicates that distinct CHD-family members contribute to cardiac development with different levels of support across human genetics, in vivo models, and stem-cell systems. CHD7 has the strongest combined evidence base, including human syndromic genetics and mouse lineage-specific studies, supporting roles in enhancer accessibility, second-heart-field or neural-crest programs, outflow-tract morphogenesis, and later cardiomyocyte maturation. CHD3 and CHD4, as ATPase subunits of the nucleosome remodeling and deacetylase complex, are supported mainly by mouse developmental studies and emerging human genetic data indicating functions in chamber specification, maintenance of lineage boundary, and developmental gene silencing. For CHD8, direct cardiac evidence remains limited. Available data suggest roles in cardiomyocyte survival, ventricular growth, sarcomeric organization, and metabolic homeostasis, but several mechanistic interpretations are inferred from stem-cell or non-cardiac systems. Direct cardiac roles of CHD1, CHD2, CHD5, CHD6, and CHD9 remain poorly defined.</p><p><strong>Conclusions: </strong>Current studies support a working model in which CHD remodelers shape enhancer activity, transcription-factor occupancy, and chromatin accessibility during cardiac morphogenesis and maturation. However, coordinated regulation across CHD-family members has not yet been directly established experimentally. Future progress will depend on integrative genetics, time-resolved multi-omics, and cardiac organoid/in vivo validation.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"630-642"},"PeriodicalIF":7.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148296506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}