World Journal of Pediatrics最新文献

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Associations between parental generative artificial intelligence health-advice use and child vaccination uptake in Japan: an exploratory cross-sectional study. 日本父母生殖人工智能健康咨询使用与儿童疫苗接种之间的关系:一项探索性横断面研究。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-15 DOI: 10.1007/s12519-026-01107-5
Yousuke Imanishi, Maria Iorini, Sinchul Jwa, Masahiko Sakamoto, Ichiro Wada, Takahiro Tabuchi, Mai Uchida
{"title":"Associations between parental generative artificial intelligence health-advice use and child vaccination uptake in Japan: an exploratory cross-sectional study.","authors":"Yousuke Imanishi, Maria Iorini, Sinchul Jwa, Masahiko Sakamoto, Ichiro Wada, Takahiro Tabuchi, Mai Uchida","doi":"10.1007/s12519-026-01107-5","DOIUrl":"https://doi.org/10.1007/s12519-026-01107-5","url":null,"abstract":"<p><strong>Background: </strong>Parents increasingly use generative artificial intelligence (AI) for health information, but evidence on parental AI use and childhood vaccination is limited. We examined exploratory associations between regular parental AI health-advice use and childhood vaccination in Japan.</p><p><strong>Methods: </strong>This cross-sectional study analyzed 2025 nationwide survey data from children aged 1 to 17 years and parents, with a linked 2023-2025 sub-analysis. The exposure was regular parental use of generative AI for health advice at least a few times per month. Outcomes were age-appropriate measles-rubella (MR) vaccination and any mumps, influenza, or coronavirus disease 2019 (COVID-19) vaccination. Modified Poisson regression estimated adjusted prevalence ratios (aPRs) and 95% confidence interval (95% CI) with parent-level clustering and covariates.</p><p><strong>Results: </strong>Among 8282 children and 5170 parents, 1278 (15.4%) had regular AI health-advice users as parents. AI use was not associated with age-appropriate MR vaccination (aPR 1.02; 95% CI 0.97-1.09), but was associated with three vaccines. The adjusted rates were 76.6 versus 72.7% (aPR 1.05, 95% CI 1.01-1.10) for mumps, 56.7% versus 49.0% (aPR 1.16, 95% CI 1.08-1.24) for influenza, 40.6% versus 30.9% (aPR 1.31, 95% CI 1.19-1.45) for COVID-19. The COVID-19 association was strongest among parents younger than 30 years (aPR 2.58; 95% CI 1.90-3.50; P for interaction < 0.001). In the linked sub-analysis, these associations persisted after adjustment for an available 2023 household-level prior vaccination marker and attitudes.</p><p><strong>Conclusions: </strong>Regular parental use of generative AI for health advice was associated with mumps, influenza, and COVID-19 vaccination, but not with age-appropriate MR vaccination. These exploratory, cross-sectional findings are observational associations. They may reflect digital health engagement, health information seeking, socioeconomic differences, or favorable attitudes, rather than vaccine-specific AI advice.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196921","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}
引用次数: 0
Regional and national burden of attention-deficit hyperactivity disorder in Asia, 1990-2023: a Global Burden of Disease Study 2023. 亚洲注意缺陷多动障碍的区域和国家负担,1990-2023:全球疾病负担研究2023。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-09 DOI: 10.1007/s12519-026-01091-w
Yujin Choi, Kyeongeun Kim, Hyunyi Yoo, Dain Y Kim, Jiseung Kang, Hyunjee Kim, Jeongseon Oh, Ho Geol Woo, José Francisco López-Gil, Christa J Nehs, Hyeon Seok Hwang, Jaeyu Park, Dong Keon Yon
{"title":"Regional and national burden of attention-deficit hyperactivity disorder in Asia, 1990-2023: a Global Burden of Disease Study 2023.","authors":"Yujin Choi, Kyeongeun Kim, Hyunyi Yoo, Dain Y Kim, Jiseung Kang, Hyunjee Kim, Jeongseon Oh, Ho Geol Woo, José Francisco López-Gil, Christa J Nehs, Hyeon Seok Hwang, Jaeyu Park, Dong Keon Yon","doi":"10.1007/s12519-026-01091-w","DOIUrl":"https://doi.org/10.1007/s12519-026-01091-w","url":null,"abstract":"<p><strong>Background: </strong>Attention-deficit hyperactivity disorder (ADHD) represents a substantial lifelong economic and functional burden, yet comprehensive assessments of its burden in Asia have been limited. In this study, we quantified the burden of ADHD across Asia at both regional and national levels.</p><p><strong>Methods: </strong>We estimated the burden of ADHD across 34 Asian countries from 1990 to 2023 using data from the Global Burden of Disease Study 2023. ADHD was defined as the presence of six or more inattention or hyperactivity-impulsivity symptoms lasting ≥ 6 months. Burden was assessed using age-standardized years lived with disability (YLD) rates with 95% uncertainty intervals (UIs), stratified by age and sex, and compared across pre- and post-pandemic periods.</p><p><strong>Results: </strong>The burden of ADHD in Asia remained largely concentrated in childhood and adolescence, with comparatively modest temporal changes in age-standardized YLD rates from 1990 to 2023. East Asia showed the largest increase over this period and had the highest age-standardized YLD rate in 2023, at 82.20 (95% UI: 46.77-122.88) per 100,000 population. Across all Asian regions, age-specific YLD rates peaked among individuals aged 10 to 14 years, reaching 213.03 (95% UI: 113.82-322.27) per 100,000 population in East Asia, and declined progressively thereafter. Males consistently had higher YLD rates than females across regions and age groups. During the COVID-19 pandemic, the ADHD burden increased in most Asian countries, with particularly pronounced increases in the high-income Asia Pacific region. In addition, the ADHD burden was positively correlated with a higher Socio-demographic Index.</p><p><strong>Conclusions: </strong>Our findings define males and children aged 10-14 years as priority groups for early ADHD detection and intervention. Moreover, we provide critical evidence to guide targeted ADHD prevention and management strategies across Asia.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149664","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}
引用次数: 0
Ulcerated infantile hemangioma in the β-blocker era: recent advances. β受体阻滞剂时代的婴幼儿溃疡性血管瘤:最新进展。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-08 DOI: 10.1007/s12519-026-01101-x
Kai-Zhi Zhang, Ren-Ming Guo, Tong Qiu, Min Yang, Yi Ji
{"title":"Ulcerated infantile hemangioma in the β-blocker era: recent advances.","authors":"Kai-Zhi Zhang, Ren-Ming Guo, Tong Qiu, Min Yang, Yi Ji","doi":"10.1007/s12519-026-01101-x","DOIUrl":"https://doi.org/10.1007/s12519-026-01101-x","url":null,"abstract":"<p><strong>Background: </strong>Whilst β-blockers have revolutionized the management of complicated infantile hemangiomas (IHs), ulceration remains a highly painful and clinically challenging complication. Ulcerated IHs may lead to pain, bleeding, secondary infection, feeding or diaper-care difficulties, functional impairment, and permanent scarring. Early recognition and integrated management are therefore essential.</p><p><strong>Data sources: </strong>This narrative review searched PubMed, Embase, and Cochrane Library databases from inception to June 2026 for studies concerning ulcerated IH. The search was restricted to publications written in English; relevant evidence was synthesized in a narrative fashion.</p><p><strong>Results: </strong>Ulceration is more likely to occur in rapidly proliferating, large, superficial, mixed, segmental, or partially segmental IHs. This is particularly so for those involving the lips, neck, diaper area, perineal or anogenital region, and skin folds. Early white discoloration is an important warning sign of impending ulceration. Current evidence suggests that ulceration should not be regarded merely as a surface wound but as a dynamic manifestation of active hemangioma proliferation, local tissue vulnerability, environmental barrier disruption, inflammation, and delayed wound repair. Oral propranolol remains the main systemic treatment, whereas wound care, pain control, infection surveillance, topical β-blockers, pulsed dye laser treatment, and individualized multimodal therapy may be needed according to ulcer severity and the anatomical site involved.</p><p><strong>Conclusions: </strong>In the β-blocker era, ulcerated IH remains an important clinical problem requiring early risk stratification and integrated lesion-directed and wound-directed management. Future prospective multicenter and mechanistic studies are needed to standardize assessments of severity, refine risk-stratified treatment algorithms, and improve long-term functional and cosmetic outcomes for infants with ulcerated IHs.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138504","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}
引用次数: 0
Efficacy of non-pharmacological interventions for pediatric primary headaches: a systematic review and network meta-analysis. 非药物干预对儿童原发性头痛的疗效:系统回顾和网络荟萃分析。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-07 DOI: 10.1007/s12519-026-01103-9
Fa-Qiang Zhang, Ya-Nan Wu, Wen-Di Liu, Ke-Hu Yang, Xiu-Xia Li, Shu-Ying Wang
{"title":"Efficacy of non-pharmacological interventions for pediatric primary headaches: a systematic review and network meta-analysis.","authors":"Fa-Qiang Zhang, Ya-Nan Wu, Wen-Di Liu, Ke-Hu Yang, Xiu-Xia Li, Shu-Ying Wang","doi":"10.1007/s12519-026-01103-9","DOIUrl":"https://doi.org/10.1007/s12519-026-01103-9","url":null,"abstract":"<p><strong>Background: </strong>Primary headaches are common in children and adolescents; however, the comparative efficacy of multiple non-pharmacological interventions remains unclear. This study aimed to compare the efficacy of different non-pharmacological interventions for pediatric primary headaches using a network meta-analysis.</p><p><strong>Methods: </strong>We systematically searched PubMed, Cochrane Library, Web of Science, and Embase databases for randomized controlled trials (RCTs) that investigated non-pharmacological interventions for pediatric primary headaches, from database inception to August 1, 2026. The risk of bias was assessed using the Cochrane risk of bias tool, and the certainty of evidence was evaluated using confidence in network meta-analysis (CINeMA). A network meta-analysis (NMA) was conducted using Stata 17 to generate network diagrams, league tables, and surface under the cumulative ranking curve values. The protocol was registered in PROSPERO.</p><p><strong>Results: </strong>A total of 16 RCTs involving 820 participants were included. Network meta-analysis showed that, compared with waiting list control (WLC), biofeedback [standardized mean difference (SMD) = -1.11, 95% confidence interval (95% CI) (-2.04, -0.17)], therapist-assisted relaxation [SMD = -1.06, 95% CI (-2.04, -0.07)], and relaxation [SMD = -0.69, 95% CI (-1.21, -0.17)] were associated with reductions in headache frequency. Headstrong compact disc read-only memory (CD-ROM) [SMD = -1.63, 95% CI (-2.95, -0.30)], biofeedback + relaxation [SMD = -1.54, 95% CI (-2.95, -0.13)], and relaxation [SMD = -0.91, 95% CI (-1.61, -0.21)] showed potential benefits in shortening headache duration. Education [SMD = -0.96, 95% CI (-1.72, -0.19)], biofeedback [SMD = -0.85, 95% CI (-1.59, -0.11)], therapist-administered group training (TG) [SMD = -0.78, 95% CI (-1.39, -0.17)], cognitive behavior therapy (CBT) [SMD = -0.76, 95% CI (-1.33, -0.19)], and relaxation [SMD = -0.63, 95% CI (-1.24, -0.02)] were associated with improvements in headache intensity. According to surface under the cumulative ranking curve (SUCRA) values, biofeedback (81.4%), headstrong CD-ROM (80.5%), and education (75.7%) showed the highest-ranking probabilities for reducing headache frequency, shortening headache duration, and alleviating headache intensity, respectively. These rankings reflect relative probabilities rather than definitive clinical superiority.</p><p><strong>Conclusions: </strong>Biofeedback, headstrong CD-ROM, and education showed relatively favorable rankings for specific headache outcomes. However, these findings are exploratory and should be interpreted with caution given imprecise effect estimates and very low certainty of evidence.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128449","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}
引用次数: 0
Beyond early diagnosis: toward AI-enabled multi-omics prediction of necrotizing enterocolitis. 超越早期诊断:迈向ai支持的坏死性小肠结肠炎多组学预测。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-07 DOI: 10.1007/s12519-026-01112-8
Yan-Jun Wu, Tong Lin, Mei-Jun Meng, Xing-Ting Zhang, Ke-Xin Zhang, Ze-Wei Zhuo, Wei-Hong Sha, Yong-Yan Shi, Hao Chen
{"title":"Beyond early diagnosis: toward AI-enabled multi-omics prediction of necrotizing enterocolitis.","authors":"Yan-Jun Wu, Tong Lin, Mei-Jun Meng, Xing-Ting Zhang, Ke-Xin Zhang, Ze-Wei Zhuo, Wei-Hong Sha, Yong-Yan Shi, Hao Chen","doi":"10.1007/s12519-026-01112-8","DOIUrl":"https://doi.org/10.1007/s12519-026-01112-8","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128459","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}
引用次数: 0
Correction: Pediatric dysphagia overview: best practice recommendation study by multidisciplinary experts. 更正:儿科吞咽困难概述:多学科专家的最佳实践推荐研究。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-03 DOI: 10.1007/s12519-026-01104-8
Ebru Umay, Sibel Eyigor, Esra Giray, Evrim Karadag Saygi, Bulent Karadag, Nihal Durmus Kocaaslan, Deniz Yuksel, Arzu Meltem Demir, Engin Tutar, Canan Tikiz, Eda Gurcay, Zeliha Unlu, Pelin Celik, Ece Unlu Akyuz, Guven Mengu, Serkan Bengisu, Sibel Alicura, Necati Enver, Nida Yekteusaklari, Cuma Uz, Merve Cikili Uytun, Fatih Bagcier, Elif Tarihci, Mazlum Serdar Akaltun, Iclal Ayranci Sucakli, Damla Cankurtaran, Zeynep Aykın, Resa Aydın, Fatma Nazli
{"title":"Correction: Pediatric dysphagia overview: best practice recommendation study by multidisciplinary experts.","authors":"Ebru Umay, Sibel Eyigor, Esra Giray, Evrim Karadag Saygi, Bulent Karadag, Nihal Durmus Kocaaslan, Deniz Yuksel, Arzu Meltem Demir, Engin Tutar, Canan Tikiz, Eda Gurcay, Zeliha Unlu, Pelin Celik, Ece Unlu Akyuz, Guven Mengu, Serkan Bengisu, Sibel Alicura, Necati Enver, Nida Yekteusaklari, Cuma Uz, Merve Cikili Uytun, Fatih Bagcier, Elif Tarihci, Mazlum Serdar Akaltun, Iclal Ayranci Sucakli, Damla Cankurtaran, Zeynep Aykın, Resa Aydın, Fatma Nazli","doi":"10.1007/s12519-026-01104-8","DOIUrl":"https://doi.org/10.1007/s12519-026-01104-8","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115516","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}
引用次数: 0
Microbiome signatures and mechanistic pathways in pediatric obesity: from early-life risk to precision interventions. 儿童肥胖的微生物组特征和机制途径:从早期生活风险到精确干预。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-10-03 DOI: 10.1007/s12519-026-01094-7
Shan-Shan Xie, Jie Hu, Wei Zhou, Xiao-Long Ge, You-You Luo, Zhi-Gang Liu
{"title":"Microbiome signatures and mechanistic pathways in pediatric obesity: from early-life risk to precision interventions.","authors":"Shan-Shan Xie, Jie Hu, Wei Zhou, Xiao-Long Ge, You-You Luo, Zhi-Gang Liu","doi":"10.1007/s12519-026-01094-7","DOIUrl":"https://doi.org/10.1007/s12519-026-01094-7","url":null,"abstract":"<p><strong>Background: </strong>The gut microbiota is increasingly recognized as a modulator of metabolic health in children, influencing nutrient absorption, immune tone, epithelial barrier function, and energy homeostasis. This review summarizes current evidence on microbial signatures and mechanistic pathways associated with pediatric obesity and evaluates microbiota-targeted strategies for prevention and intervention.</p><p><strong>Data sources: </strong>Relevant studies published between January 2000 and February 2026 were identified through searches of PubMed, Embase, and Web of Science using keywords related to pediatric obesity, gut microbiota, microbial metabolites, and microbiota-based interventions. Human studies and mechanistic animal models examining host-microbe metabolic interactions were included.</p><p><strong>Results: </strong>Pediatric obesity is associated with shifts in gut microbial composition, although taxonomic findings are heterogeneous across studies and should not be interpreted as universal biomarkers. Relatively consistent patterns include reduced Bifidobacterium and Akkermansia muciniphila, whereas associations involving Faecalibacterium, Blautia, and lactobacilli are context-, species-, and strain-dependent. Functional alterations include changes in short-chain fatty acid production, bile acid signaling, microbial branched-chain and aromatic amino acid metabolism, and endotoxin-related inflammatory pathways. The enrichment of Gram-negative taxa such as Enterobacteriaceae may contribute to impaired epithelial barrier integrity, lipopolysaccharide translocation, toll-like receptor 4 signaling, chronic low-grade inflammation, and insulin resistance. Early-life exposures, including cesarean delivery, formula feeding, and antibiotic use, are repeatedly associated with altered microbial succession and later obesity risk, although causality remains incompletely defined. Interventional studies indicate that dietary fiber enrichment and selected probiotic strains can improve microbial and metabolic outcomes in some settings, but efficacy remains strain-specific and clinically heterogeneous.</p><p><strong>Conclusions: </strong>Microbial and metabolic signatures are associated with pediatric obesity, converging on pathways of energy harvest, epithelial barrier dysfunction, inflammation, and disrupted host-microbe signaling. Integrative multi-omic and longitudinal studies are required to establish causality and guide the development of personalized, microbiota-based interventions for obesity prevention and treatment in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115519","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}
引用次数: 0
Pediatric inpatient hypercalcemia: triage using intact parathyroid hormone, age, and urinary calcium. 儿科住院患者高钙血症:使用完整甲状旁腺激素、年龄和尿钙进行分诊。
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-09-30 DOI: 10.1007/s12519-026-01102-w
Hu Lin, Jun-Fen Fu, Guan-Ping Dong
{"title":"Pediatric inpatient hypercalcemia: triage using intact parathyroid hormone, age, and urinary calcium.","authors":"Hu Lin, Jun-Fen Fu, Guan-Ping Dong","doi":"10.1007/s12519-026-01102-w","DOIUrl":"https://doi.org/10.1007/s12519-026-01102-w","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149115648","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}
引用次数: 0
Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study. 1型神经纤维瘤病患儿的表型和基因型特征:一项为期12年的单中心队列研究
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-09-02 DOI: 10.1007/s12519-026-01092-9
Zhi-Ying Li, Xin Li, Tian Wen, Bi-Yun Feng, Yang Song, Jia-Yue Hu, Ting-Ting Yu, Ru-En Yao, Xiu-Min Wang
{"title":"Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.","authors":"Zhi-Ying Li, Xin Li, Tian Wen, Bi-Yun Feng, Yang Song, Jia-Yue Hu, Ting-Ting Yu, Ru-En Yao, Xiu-Min Wang","doi":"10.1007/s12519-026-01092-9","DOIUrl":"10.1007/s12519-026-01092-9","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in the NF1 gene. The NF1 gene product neurofibromin, acts as a tumor suppressor primarily by negatively regulating the mitogen-activated protein kinase signaling pathway. This study aimed to characterize both the genotypic and phenotypic spectrum of pediatric NF1 patients at a single center and further explore potential genotype-phenotype correlations.</p><p><strong>Methods: </strong>Pediatric patients diagnosed with NF1 who were treated and followed up at our center from July 2013 to August 2025 were included. All patients underwent genetic testing, both phenotypic and genotypic data were collected and curated. Statistical analyses were performed using SPSS, GraphPad Prism, and Python. Growth curves and variant distribution maps were generated based on the integrated dataset.</p><p><strong>Results: </strong>A total of 301 patients were included. They exhibited a broad multisystem phenotype with several clinical manifestations and notable sex-related differences, particularly skeletal abnormalities and developmental or intellectual impairments. Males had significantly lower height standard deviation scores (SDS) than females, and P50 growth curves were consistently below those of healthy reference values. Truncating variants were the most common (60.8%). Among 229 patients with known parental origin, 77.29% carried de novo variants, and 37 novel variants were identified. Patients harboring single amino acid variations exhibited a significantly higher prevalence of short stature than those with truncating variants, whereas splice variants were associated with unidentified bright objects (UBOs) and optic nerve abnormalities.</p><p><strong>Conclusions: </strong>This study provides a comprehensive characterization of the genotypic and phenotypic landscape of pediatric NF1 in a large cohort. By incorporating growth data from childhood, we construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities. These findings expand the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":7.3,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148881731","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}
引用次数: 0
Discrimination performance of the Phoenix sepsis score versus pediatric sequential organ failure assessment for predicting in-hospital mortality in critically ill children: a multicenter external validation study. 凤凰脓毒症评分与儿童顺序器官衰竭评估预测危重儿童住院死亡率的区别表现:一项多中心外部验证研究
IF 7.3 2区 医学
World Journal of Pediatrics Pub Date : 2026-09-01 Epub Date: 2026-09-22 DOI: 10.1007/s12519-026-01073-y
Xuan-Wen Ru, Rui-Ying Liu, Zi-Hao Yang, Cai-Zhi Huang, Cong Zhang, Tie-Wei Li, Jun-Mei Yang, Yang Liu, Xiao-Yu Cui, Hong-Bing Chen, Xun Zhou, Feng Tang, Xu-Yang Gong, Ping Ling, Xin Lv, Qian Zeng, Zhan Ma, Bao-Yu Yuan, Hong Zhu, Xue-Jun Shao, Jing Wu, Rui-Jie Yu, Xiao-Wei Zhang, Jing-Ran Wang, Feng Cheng, Su-Hong Huang, Kun Chi, Guo-Feng Liu, Zhen-Wen Zhou, Xiao-Chun Liu, Wei-Li Yan, Guo-Qiang Qi, Wen-Xia Shao, Qing Ye
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