World Journal of Pediatrics最新文献

{"title":"Sleep-related movement disorders in children: recent updates.","authors":"Melissa Cole, Narong Simakajornboon","doi":"10.1007/s12519-024-00856-5","DOIUrl":"https://doi.org/10.1007/s12519-024-00856-5","url":null,"abstract":"<p><strong>Background: </strong>Sleep-related movement disorders (SRMDs), such as restless legs syndrome (RLS) and periodic limb movement disorder (PLMD), are common in pediatric sleep practice. There is increasing literature on RLS, PLMD, and a newly described sleep disorder called \"restless sleep disorder (RSD)\". We aimed to review and provide recent updates on SRMDs.</p><p><strong>Data sources: </strong>A comprehensive search for relevant English-language peer-reviewed publications focused on three common SRMDs, namely, RLS, PLMD and RSD, in a variety of indices in PubMed and SCOPUS. Both relevant databases and systematic reviews are included.</p><p><strong>Results: </strong>SRMDs, especially RLS and PLMD, are common in children and adolescents. However, they are underrecognized. Genetics, abnormal dopaminergic functions, and iron deficiency are the main pathophysiologies of RLS and PLMD. RLS and RSD may share common pathophysiologic mechanisms, as evidenced by low iron stores in both conditions. The diagnoses of RLS, PLMD, and RSD require specific clinical criteria and polysomnographic features. Several comorbid conditions have been associated with RLS, PLMD, and RSD. Iron therapy has been shown to be effective for treating RLS, PLMD, and RSD. There is increasing evidence on the effectiveness of specific medications in children with RLS and PLMD, but the data are still limited.</p><p><strong>Conclusions: </strong>This review summarizes the pathophysiology, clinical manifestations, diagnostic criteria, and management of RLS, PLMD, and RSD in children based on relevant and recent literature. It is important for pediatricians to recognize the clinical presentation of RLS, PLMD, and RSD to facilitate early diagnosis. Further studies are needed to examine the pathogenesis, long-term consequences, and pharmacologic therapy of RSD in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740071","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: Longer duration of initial invasive mechanical ventilation is still a crucial risk factor for moderate-to-severe bronchopulmonary dysplasia in very preterm infants: a multicentrer prospective study.","authors":"Cong Dou, Yong-Hui Yu, Qing-Cui Zhuo, Jian-Hong Qi, Lei Huang, Yan-Jie Ding, De-Juan Yang, Li Li, Dan Li, Xiao-Kang Wang, Yan Wang, Xin Qiao, Xiang Zhang, Bing-Jin Zhang, Hai-Yan Jiang, Zhong-Liang Li, Simmy Reddy","doi":"10.1007/s12519-024-00852-9","DOIUrl":"https://doi.org/10.1007/s12519-024-00852-9","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628920","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 diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study.","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/s12519-024-00822-1","DOIUrl":"10.1007/s12519-024-00822-1","url":null,"abstract":"<p><strong>Background: </strong>Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of prenatally diagnosed developmental malformation. This study aimed to assess the relationship between maternal diseases and CAKUT in offspring.</p><p><strong>Methods: </strong>This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center. Medical information on maternal noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism, hypothyroidism, psychiatric disease, epilepsy, cancer, and autoimmune disease was collected. Based on the records of ultrasound scanning during the third trimester, the diagnosis was classified as isolated urinary tract dilation (UTD) or kidney anomalies. Multivariate logistic regression was performed to establish models to predict antenatal CAKUT.</p><p><strong>Results: </strong>Among the 19,656 pregnant women, perinatal ultrasound detected suspicious CAKUT in 114 (5.8/1000) fetuses, comprising 89 cases with isolated UTD and 25 cases with kidney anomalies. The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes, thyroid dysfunction, neuropsychiatric disease, anemia, ovarian and uterine disorders. A prediction model for isolated UTD was developed utilizing four confounding factors, namely gestational diabetes, gestational hypertension, maternal thyroid dysfunction, and hepatic disease. Similarly, a separate prediction model for kidney anomalies was established based on four distinct confounding factors, namely maternal thyroid dysfunction, gestational diabetes, disorders of ovarian/uterine, and kidney disease.</p><p><strong>Conclusions: </strong>Isolated UTD and kidney anomalies were associated with different maternal diseases. The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1168-1178"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11582095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545353","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":"Neonatal encephalopathy due to suspected hypoxic ischemic encephalopathy: pathophysiology, current, and emerging treatments.","authors":"Carina Corte-Real Babbo, Juanita Mellet, Jeanne van Rensburg, Shakti Pillay, Alan Richard Horn, Firdose Lambey Nakwa, Sithembiso Christopher Velaphi, Gugulabatembunamahlubi Tenjiwe Jabulile Kali, Melantha Coetzee, Mogomane Yvonne Khomotso Masemola, Daynia Elizabeth Ballot, Michael Sean Pepper","doi":"10.1007/s12519-024-00836-9","DOIUrl":"10.1007/s12519-024-00836-9","url":null,"abstract":"<p><strong>Background: </strong>Neonatal encephalopathy (NE) due to suspected hypoxic-ischemic encephalopathy (HIE), referred to as NESHIE, is a clinical diagnosis in late preterm and term newborns. It occurs as a result of impaired cerebral blood flow and oxygen delivery during the peripartum period and is used until other causes of NE have been discounted and HIE is confirmed. Therapeutic hypothermia (TH) is the only evidence-based and clinically approved treatment modality for HIE. However, the limited efficacy and uncertain benefits of TH in some low- to middle-income countries (LMICs) and the associated need for intensive monitoring have prompted investigations into more accessible and effective stand-alone or additive treatment options.</p><p><strong>Data sources: </strong>This review describes the rationale and current evidence for alternative treatments in the context of the pathophysiology of HIE based on literatures from Pubmed and other online sources of published data.</p><p><strong>Results: </strong>The underlining mechanisms of neurotoxic effect, current clinically approved treatment, various categories of emerging treatments and clinical trials for NE are summarized in this review. Melatonin, caffeine citrate, autologous cord blood stem cells, Epoetin alfa and Allopurinal are being tested as potential neuroprotective agents currently.</p><p><strong>Conclusion: </strong>This review describes the rationale and current evidence for alternative treatments in the context of the pathophysiology of HIE. Neuroprotective agents are currently only being investigated in high- and middle-income settings. Results from these trials will need to be interpreted and validated in LMIC settings. The focus of future research should therefore be on the development of inexpensive, accessible monotherapies and should include LMICs, where the highest burden of NESHIE exists.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1105-1114"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11582131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141262","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":"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":"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":" ","pages":"1145-1154"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11582329/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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/s12519-024-00817-y","DOIUrl":"10.1007/s12519-024-00817-y","url":null,"abstract":"<p><strong>Background: </strong>Monogenic lupus is defined as systemic lupus erythematosus (SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance. However, because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE, it causes a delay in diagnosis and treatment. Currently, there is a lack of early identification models for clinical practitioners to provide early clues for recognition. Our goal was to create a clinical model for the early identification of pediatric monogenic lupus, thereby facilitating early and precise diagnosis and treatment for patients.</p><p><strong>Methods: </strong>This retrospective cohort study consisted of 41 cases of monogenic lupus treated at the Department of Pediatrics at Peking Union Medical College Hospital from June 2012 to December 2022. The control group consisted of classical SLE patients recruited at a 1:2 ratio. Patients were randomly divided into a training group and a validation group at a 7:3 ratio. A logistic regression model was established based on the least absolute shrinkage and selection operator to generate the coefficient plot. The predictive ability of the model was evaluated using receiver operator characteristic curves and the area under the curve (AUC) index.</p><p><strong>Results: </strong>A total of 41 cases of monogenic lupus patients and 82 cases of classical SLE patients were included. Among the monogenic lupus cases (with a male-to-female ratio of 1:1.05 and ages of onset ranging from birth to 15 years), a total of 18 gene mutations were identified. The variables included in the coefficient plot were age of onset, recurrent infections, intracranial calcifications, growth and developmental delay, abnormal muscle tone, lymphadenopathy/hepatosplenomegaly, and chilblain-like skin rash. Our model demonstrated satisfactory diagnostic performance through internal validation, with an AUC value of 0.97 (95% confidence interval = 0.92-0.97).</p><p><strong>Conclusions: </strong>We summarized and analyzed the clinical characteristics of pediatric monogenic lupus and developed a predictive model for early identification by clinicians. Clinicians should exercise high vigilance for monogenic lupus when the score exceeds - 9.032299.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1155-1167"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11582177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545352","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":"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":"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":" ","pages":"1138-1144"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","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":"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":"10.1007/s12519-024-00847-6","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1196-1197"},"PeriodicalIF":6.1,"publicationDate":"2024-11-01","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":"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}