World Journal of Pediatrics最新文献

{"title":"Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.","authors":"Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang","doi":"10.1007/s12519-024-00846-7","DOIUrl":"https://doi.org/10.1007/s12519-024-00846-7","url":null,"abstract":"<p><strong>Background: </strong>Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase chain reaction (PCR) technology have been instrumental in facilitating their inclusion in NBS programs.</p><p><strong>Methods: </strong>We employed multiplex real-time PCR to simultaneously detect T-cell receptor excision circles (TRECs), kappa-deleting recombination excision circles (KRECs), and the absence of the survival motor neuron (SMN) 1 gene in dried blood spots from 103,240 newborns in Zhejiang Province, China, between July 2021 and December 2022.</p><p><strong>Results: </strong>Of all the samples, 122 were requested further evaluation. After flow cytometry evaluation and/or genetic diagnostics, we identified one patient with SCID, two patients with XLA, nine patients with SMA [one of whom also had Wiskott-Aldrich Syndrome (WAS)], and eight patients with other medical conditions. The positive predictive values (PPVs) of NBS for SCID, XLA, and SMA were 2.44%, 2.78%, and 100%, respectively. The estimated prevalence rates in the Chinese population were 1 in 103,240 for SCID, 1 in 51,620 for XLA, and 1 in 11,471 for SMA.</p><p><strong>Conclusion: </strong>This study represents the first large-scale screening in mainland China using a TREC/KREC/SMN1 multiplex assay, providing valuable epidemiological data. Our findings suggest that this multiplex assay is an effective screening method for SCID, XLA, and SMA, potentially supporting the universal implementation of NBS programs across China.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583905","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":"Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021.","authors":"Wen-Yan Li, Zhi-Yu Chen, Wen-Li Xu, Yu-Yang Gao, Zhen Liu, Qi Li, Li Dai","doi":"10.1007/s12519-024-00844-9","DOIUrl":"https://doi.org/10.1007/s12519-024-00844-9","url":null,"abstract":"<p><strong>Background: </strong>Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.</p><p><strong>Methods: </strong>We analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.</p><p><strong>Results: </strong>From 2007 to 2021, significant downward trends in prevalence were observed for neural tube defects (NTDs), hydrocephalus, cleft lip with or without palate (CL/P), limb reduction defects (LRD), omphalocele, Down syndrome, and tetralogy of Fallot (TOF). Conversely, upward trends were identified for hypospadias, cleft palate (CP), microtia/anotia, polydactyly, syndactyly, ventricular septal defect (VSD), atrial septal defect/patent foramen ovale (ASD/PFO), and patent ductus arteriosus (PDA). Younger mothers exhibited a higher prevalence of hydrocephalus, gastroschisis, CL/P, and polydactyly, while anotia/microtia, Down syndrome, and congenital heart diseases (CHDs) were more common in mothers aged 35 years or older. Significant variations in the prevalence of anencephalus, spina bifida, CL/P, anorectal atresia/stenosis, hypospadias, polydactyly, syndactyly, VSD, ASD/PFO, and PDA were found across different maternal residences and geographic regions.</p><p><strong>Conclusion: </strong>This study highlights the diverse trends and prevalence patterns of major birth defects, underscoring the necessity for defect-specific public health interventions.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142564988","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":"Maternal health and fetal development: investigating the connection between maternal diseases and congenital anomalies of the kidneys and urinary tract.","authors":"Wei-Zhen Tang, Kang-Jin Huang, Tai-Hang Liu","doi":"10.1007/s12519-024-00847-6","DOIUrl":"https://doi.org/10.1007/s12519-024-00847-6","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523247","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":"https://doi.org/10.1007/s12519-024-00838-7","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"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 early follow-up visits with reduced hospital readmissions of newborns: a French population-based data-linkage study.","authors":"Camille Ravel, Marion Nimal, Steve Nauleau, David Lapalus, Olivier Bernard, Elise Gras, Sophie Tardieu, Farid Boubred","doi":"10.1007/s12519-024-00841-y","DOIUrl":"https://doi.org/10.1007/s12519-024-00841-y","url":null,"abstract":"<p><strong>Background: </strong>Newborn care guidelines recommend assessments within a week of discharge from maternity care. However, the optimal timing and effectiveness to prevent neonatal hospital readmission are debated. This study aimed to determine the association between early follow-up visits (EFVs) within three days of postpartum discharge and hospital readmission of newborns up to 15 days of life.</p><p><strong>Methods: </strong>This population-based data-linkage study used data from the French National Health Care Database. \"Healthy\" singleton term infants with a gestational age (GA) of ≥ 36 weeks, born between January 1, 2017, and November 30, 2018, in Southern France, were included. A multivariate regression analysis was performed.</p><p><strong>Results: </strong>Among the 67,359 included infants, 1519 (2.25%) were hospitalized. The principal causes of hospitalization were infectious diseases (42.4%) and jaundice or growth/nutrition disorders (36.1%). Hospitalized infants were more likely to be born to young and socioeconomically deprived mothers, to be male (54.4% vs. 50.6%, P < 0.001), or born early (GA < 38 weeks; 28.5% vs. 20.5%, P < 0.001). They received 6% less EFVs than non-hospitalized infants (63.7% vs. 67.8%, P < 0.001). The multivariable regression logistic analysis revealed that infants who received EFVs had 13% lower odds of being hospitalized than infants without EFVs, with an adjusted odds ratio of 0.87 (95% confidence interval = 0.78-0.96; P < 0.01).</p><p><strong>Conclusion: </strong>EFVs within three days were associated with a 13% reduction in the rate of neonatal hospital readmission. Therefore, EFVs should be implemented to improve infant health and reduce healthcare costs.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142476169","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":"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":"https://doi.org/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":null,"pages":null},"PeriodicalIF":6.1,"publicationDate":"2024-10-12","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":"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":null,"pages":null},"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":null,"pages":null},"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":"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":"https://doi.org/10.1007/s12519-024-00840-z","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":null,"pages":null},"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":"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":null,"pages":null},"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}