World Journal of Pediatrics最新文献

{"title":"Recent advances and current status of gene therapy for epilepsy.","authors":"Ao-Jie Cai, Kai Gao, Fan Zhang, Yu-Wu Jiang","doi":"10.1007/s12519-024-00843-w","DOIUrl":"10.1007/s12519-024-00843-w","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy is a common neurological disorder with complex pathogenic mechanisms, and refractory epilepsy often lacks effective treatments. Gene therapy is a promising therapeutic option, with various preclinical experiments achieving positive results, some of which have progressed to clinical studies.</p><p><strong>Data sources: </strong>This narrative review was conducted by searching for papers published in PubMed/MEDLINE with the following single and/or combination keywords: epilepsy, children, neurodevelopmental disorders, genetics, gene therapy, vectors, transgenes, receptors, ion channels, micro RNAs (miRNAs), clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas)9 (CRISPR/Cas9), expression regulation, optogenetics, chemical genetics, mitochondrial epilepsy, challenges, ethics, and disease models.</p><p><strong>Results: </strong>Currently, gene therapy research in epilepsy primarily focuses on symptoms attenuation mediated by viral vectors such as adeno-associated virus and other types. Advances in gene therapy technologies, such as CRISPR/Cas9, have provided a new direction for epilepsy treatment. However, the clinical application still faces several challenges, including issues related to vectors, models, expression controllability, and ethical considerations.</p><p><strong>Conclusions: </strong>Here, we summarize the relevant research and clinical advances in gene therapy for epilepsy and outline the challenges facing its clinical application. In addition to the shortcomings inherent in gene therapy components, the reconfiguration of excitatory and inhibitory properties in epilepsy treatment is a delicate process. On-demand, cell-autonomous treatments and multidisciplinary collaborations may be crucial in addressing these issues. Understanding gene therapy for epilepsy will help clinicians gain a clearer perception of the research progress and challenges, guiding the design of future clinical protocols and research decisions.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1115-1137"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476171","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":"A model for early clinical detection of pediatric monogenic lupus: implications for the future of digital medicine.","authors":"Wanling Yang","doi":"10.1007/s12519-024-00842-x","DOIUrl":"10.1007/s12519-024-00842-x","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1103-1104"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142355307","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":"Reply to \"maternal health and fetal development: investigating the connection between maternal diseases and congenital anomalies of the kidneys and urinary tract\".","authors":"Qiang Ma, Ya-Qi Li, Qing-Tang Meng, Bo Yang, Hai-Tao Zhang, Hua Shi, Chang-You Liu, Tian-Chao Xiang, Na Zhao, Jia Rao","doi":"10.1007/s12519-024-00851-w","DOIUrl":"10.1007/s12519-024-00851-w","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1198-1199"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628987","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":"Correction to: Prevalence of nonalcoholic fatty liver disease in pediatrics and adolescents: a systematic review and meta‑analysis.","authors":"Eun Joo Lee, Miyoung Choi, Sang Bong Ahn, Jeong-Ju Yoo, Seong Hee Kang, Yuri Cho, Do Seon Song, Hong Koh, Dae Won Jun, Hye Won Lee","doi":"10.1007/s12519-024-00838-7","DOIUrl":"10.1007/s12519-024-00838-7","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476170","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":"Association of fluoride exposure with disease burden and neurodevelopment outcomes in children in South Korea.","authors":"Won Seok Lee, Ju Hee Kim, Boeun Han, Gi Chun Lee, Hye Ri Jung, Ye Jin Shin, Eun Kyo Ha, Eun Lee, Soonchul Lee, Man Yong Han","doi":"10.1007/s12519-024-00820-3","DOIUrl":"10.1007/s12519-024-00820-3","url":null,"abstract":"<p><strong>Background: </strong>Community water fluoridation is an effective public health strategy for preventing dental caries, yet. Concerns exist about potential health problems. This study explores associations between tap water fluoride levels and pediatric disease burden, as well as neurodevelopmental outcomes at 6 years of age.</p><p><strong>Methods: </strong>This nationwide population-based cohort study included children born in Korean cities with and without tap water fluoridation projects, between 2006 and 2012, aiming for a fluoride concentration of 0.8 ± 0.2 mg/L in treated tap water. Data from the National Health Insurance Service were used, spanning from birth to 2018. The relationship between exposure to fluoridated tap water and incidence of 16 childhood diseases that were previously identified as potentially linked to fluoride exposure were examined. Additionally, we evaluated the neurodevelopmental outcomes across various domains, including gross motor, fine motor, cognition, language, social skills, and self-help functions. These assessments were performed using data from a comprehensive national health screening program for children aged six years.</p><p><strong>Results: </strong>A fluoride-unexposed group included 22,881 children, whereas a fluoride-exposed group comprised 29,991 children (52% males). Children in the fluoride-exposed group had a decreased risk of dental caries and bone fractures [hazard ratio (95% confidence interval, CI), 0.76 (0.63-0.93) and 0.89 (0.82-0.93), respectively] and increased risk of hepatic failures [1.85, (1.14-2.98)] compared to those in the unexposed group. Additionally, the risk ratio of abnormal neurodevelopmental screening outcomes increased by 9%, but this was statistically uncertain (95% CI, 0.95-1.26).</p><p><strong>Conclusions: </strong>Fluoridated tap water was associated with an increased risk of hepatic failure but a decreased risk of bone fractures in children. The association between fluoridated tap water and neurodevelopmental screening outcomes at 6 years remains unclear, highlighting the need for further studies to clarify this association.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1029-1042"},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471119","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":"Guidelines for the diagnosis and treatment of neurally mediated syncope in children and adolescents (revised 2024).","authors":"Cheng Wang, Ying Liao, Shuo Wang, Hong Tian, Min Huang, Xiang-Yu Dong, Lin Shi, Ya-Qi Li, Jing-Hui Sun, Jun-Bao Du, Hong-Fang Jin","doi":"10.1007/s12519-024-00819-w","DOIUrl":"10.1007/s12519-024-00819-w","url":null,"abstract":"<p><strong>Background: </strong>Significant progress has been made in the diagnosis and treatment of pediatric syncope since the publication of the \"2018 Chinese Pediatric Cardiology Society (CPCS) guideline for diagnosis and treatment of syncope in children and adolescents\" (\"2018 Edition Guidelines\"). Therefore, we have revised and updated it to assist pediatricians in effectively managing children with syncope.</p><p><strong>Data sources: </strong>According to the \"2018 Edition Guidelines\", the expert groups collected clinical evidence, evaluated preliminary recommendations, and then organized open-ended discussions to form the recommendations. This guideline was developed by reviewing the literature and studies in databases including PubMed, Cochrane, EMBASE, China Biomedical Database, and Chinese Journal Full-text Database up to April 2024. Search terms included \"syncope\", \"children\", \"adolescents\", \"diagnosis\", and \"treatment.\"</p><p><strong>Results: </strong>The guidelines were based on the latest global research progress and were evidence-based. The classification of syncope etiology, diagnostic procedures, postural tests, such as the active standing test, head-up tilt test, and active sitting test, clinical diagnosis, and individualized treatment for neurally mediated syncope in pediatric population were included.</p><p><strong>Conclusions: </strong>The guidelines were updated based on the latest literature. The concepts of sitting tachycardia syndrome and sitting hypertension were introduced and the comorbidities of neurally mediated syncope were emphasized. Some biomarkers used for individualized treatment were underlined. Specific suggestions were put forward for non-pharmacological therapies as well as the follow-up process. The new guidelines will provide comprehensive guidance and reference for the diagnosis and treatment of neurally mediated syncope in children and adolescents.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"983-1002"},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141898385","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":"Attention deficit hyperactivity disorder in children with epilepsy: a multicenter cross-sectional analysis in China.","authors":"Gang Pan, Ying Han, Tian-Cheng Wang, Zi-Yi Chen, Xiang-Qing Wang, Hong-Bin Sun, Yong-Hong Liu, Qun Wang, Wei-Hong Lin, Jin-Mei Li, Shui-Zhen Zhou, Yue-Hua Zhang","doi":"10.1007/s12519-024-00813-2","DOIUrl":"10.1007/s12519-024-00813-2","url":null,"abstract":"<p><strong>Background: </strong>The diagnosis and treatment of attention deficit hyperactivity disorder (ADHD) comorbid with epilepsy have been insufficiently addressed in China. We conducted a study in China to investigate the current status, diagnosis, and treatment of ADHD in children to further our understanding of ADHD comorbid with epilepsy, strengthen its management, and improve patients' quality of life.</p><p><strong>Methods: </strong>We carried out a multicenter cross-sectional survey of children with epilepsy across China between March 2022 and August 2022. We screened all patients for ADHD and compared various demographic and clinical factors between children with and without ADHD, including gender, age, age at epilepsy onset, duration of epilepsy, seizure types, seizure frequency, presence of epileptiform discharges, and treatment status. Our objective was to explore any possible associations between these characteristics and the prevalence of ADHD.</p><p><strong>Results: </strong>Overall, 395 epilepsy patients aged 6-18 years were enrolled. The age at seizure onset and duration of epilepsy ranged from 0.1-18 to 0.5-15 years, respectively. Focal onset seizures were observed in 212 (53.6%) patients, while 293 (76.3%) patients had epileptiform interictal electroencephalogram (EEG) abnormalities. Among the 370 patients treated with anti-seizure medications, 200 (54.1%) had monotherapy. Although 189 (47.8%) patients had ADHD, only 31 received treatment for it, with the inattentive subtype being the most common. ADHD was more common in children undergoing polytherapy compared to those on monotherapy. Additionally, poor seizure control and the presence of epileptiform interictal EEG abnormalities may be associated with a higher prevalence of ADHD.</p><p><strong>Conclusions: </strong>While the prevalence of ADHD was higher in children with epilepsy than in normal children, the treatment rate was notably low. This highlights the need to give more importance to the diagnosis and treatment of ADHD in children with epilepsy.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1070-1078"},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161678","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":"Correction to: LASSO‑derived nomogram for early identification of pediatric monogenic lupus.","authors":"Tian-Yu Zhang, Wei Wang, Si-Hao Gao, Zhong-Xun Yu, Wei Wang, Yu Zhou, Chang-Yan Wang, Shan Jian, Lin Wang, Li-Juan Gou, Ji Li, Ming-Sheng Ma, Hong-Mei Song","doi":"10.1007/s12519-024-00840-z","DOIUrl":"10.1007/s12519-024-00840-z","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142362148","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":"Biomarkers of preschool children with autism spectrum disorder: quantitative analysis of whole-brain tissue component volumes, intelligence scores, ADOS-CSS, and ages of first-word production and walking onset.","authors":"Xiang Zhou, Wu-Sheng Lin, Feng-Yun Zou, Shuang-Shuang Zhong, Ya-Yin Deng, Xiao-Wen Luo, Li-Shan Shen, Shi-Huan Wang, Ruo-Mi Guo","doi":"10.1007/s12519-024-00800-7","DOIUrl":"10.1007/s12519-024-00800-7","url":null,"abstract":"<p><strong>Background: </strong>Preschooling is a critical time for intervention in children with autism spectrum disorder (ASD); thus, we analyzed brain tissue component volumes (BTCVs) and clinical indicators in preschool children with ASD to identify new biomarkers for early screening.</p><p><strong>Methods: </strong>Eighty preschool children (3-6 years) with ASD were retrospectively included. The whole-brain myelin content (MyC), white matter (WM), gray matter (GM), cerebrospinal fluid (CSF), and non-WM/GM/MyC/CSF brain component volumes were obtained using synthetic magnetic resonance imaging (SyMRI). Clinical data, such as intelligence scores, autism diagnostic observation schedule-calibrated severity scores, age at first production of single words (AFSW), age at first production of phrases (AFP), and age at walking onset (AWO), were also collected. The correlation between the BTCV and clinical data was evaluated, and the effect of BTCVs on clinical data was assessed by a regression model.</p><p><strong>Results: </strong>WM and GM volumes were positively correlated with intelligence scores (both P < 0.001), but WM and GM did not affect intelligence scores (P = 0.116, P = 0.290). AWO was positively correlated with AFSW and AFP (both P < 0.001). The multivariate linear regression analysis revealed that MyC, AFSW, AFP, and AWO were significantly different (P = 0.005, P < 0.001, P < 0.001).</p><p><strong>Conclusions: </strong>This study revealed positive correlations between WM and GM volumes and intelligence scores. Whole-brain MyC affected AFSW, AFP, and AWO in preschool children with ASD. Noninvasive quantification of BTCVs via SyMRI revealed a new visualizable and quantifiable biomarker (abnormal MyC) for early ASD screening in preschool children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1059-1069"},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140289105","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":"Improving the second-tier classification of methylmalonic acidemia patients using a machine learning ensemble method.","authors":"Zhi-Xing Zhu, Georgi Z Genchev, Yan-Min Wang, Wei Ji, Yong-Yong Ren, Guo-Li Tian, Sira Sriswasdi, Hui Lu","doi":"10.1007/s12519-023-00788-6","DOIUrl":"10.1007/s12519-023-00788-6","url":null,"abstract":"<p><strong>Introduction: </strong>Methylmalonic acidemia (MMA) is a disorder of autosomal recessive inheritance, with an estimated prevalence of 1:50,000. First-tier clinical diagnostic tests often return many false positives [five false positive (FP): one true positive (TP)]. In this work, our goal was to refine a classification model that can minimize the number of false positives, currently an unmet need in the upstream diagnostics of MMA.</p><p><strong>Methods: </strong>We developed machine learning multivariable screening models for MMA with utility as a secondary-tier tool for false positives reduction. We utilized mass spectrometry-based features consisting of 11 amino acids and 31 carnitines derived from dried blood samples of neonatal patients, followed by additional ratio feature construction. Feature selection strategies (selection by filter, recursive feature elimination, and learned vector quantization) were used to determine the input set for evaluating the performance of 14 classification models to identify a candidate model set for an ensemble model development.</p><p><strong>Results: </strong>Our work identified computational models that explore metabolic analytes to reduce the number of false positives without compromising sensitivity. The best results [area under the receiver operating characteristic curve (AUROC) of 97%, sensitivity of 92%, and specificity of 95%] were obtained utilizing an ensemble of the algorithms random forest, C5.0, sparse linear discriminant analysis, and autoencoder deep neural network stacked with the algorithm stochastic gradient boosting as the supervisor. The model achieved a good performance trade-off for a screening application with 6% false-positive rate (FPR) at 95% sensitivity, 35% FPR at 99% sensitivity, and 39% FPR at 100% sensitivity.</p><p><strong>Conclusions: </strong>The classification results and approach of this research can be utilized by clinicians globally, to improve the overall discovery of MMA in pediatric patients. The improved method, when adjusted to 100% precision, can be used to further inform the diagnostic process journey of MMA and help reduce the burden for patients and their families.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1090-1101"},"PeriodicalIF":6.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139944523","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}