World Journal of Pediatrics最新文献

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What can we do for the adolescents with polycystic ovary syndrome? 我们能为患有多囊卵巢综合征的青少年做些什么?
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-30 DOI: 10.1007/s12519-024-00857-4
Yao Chen, Yi-Jun Tang, Xin Li, Xiu-Min Wang
{"title":"What can we do for the adolescents with polycystic ovary syndrome?","authors":"Yao Chen, Yi-Jun Tang, Xin Li, Xiu-Min Wang","doi":"10.1007/s12519-024-00857-4","DOIUrl":"10.1007/s12519-024-00857-4","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1205-1208"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772810","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
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience. 新生儿重症联合免疫缺陷、X 连锁丙种球蛋白血症和脊髓性肌萎缩症的全面筛查:中国经验。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-05 DOI: 10.1007/s12519-024-00846-7
Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang
{"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":"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":" ","pages":"1270-1282"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634924/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Associations between the prevalence of asthma and dietary exposure to food contaminants in children: CHASER study. 儿童哮喘发病率与从膳食中摄入食物污染物之间的关系:CHASER研究。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-13 DOI: 10.1007/s12519-024-00849-4
Daniel Hinojosa-Nogueira, Marika Dello Russo, Beatriz Navajas-Porras, Adriana Delgado-Osorio, Sergio Pérez-Burillo, Stefania La Grutta, Giovanna Cilluffo, Velia Malizia, Silvia Pastoriza de la Cueva, Fabio Lauria, José Ángel Rufián-Henares
{"title":"Associations between the prevalence of asthma and dietary exposure to food contaminants in children: CHASER study.","authors":"Daniel Hinojosa-Nogueira, Marika Dello Russo, Beatriz Navajas-Porras, Adriana Delgado-Osorio, Sergio Pérez-Burillo, Stefania La Grutta, Giovanna Cilluffo, Velia Malizia, Silvia Pastoriza de la Cueva, Fabio Lauria, José Ángel Rufián-Henares","doi":"10.1007/s12519-024-00849-4","DOIUrl":"10.1007/s12519-024-00849-4","url":null,"abstract":"<p><strong>Background: </strong>Asthma is a common, multifactorial chronic disease with a major impact on children and adolescents. Exposure to food contaminants is one of the contributing factors to asthma. This study aims to evaluate the intake and exposure of different contaminants and explore their association with childhood asthma.</p><p><strong>Methods: </strong>The Childhood Asthma and Environment Research study evaluated Italian children aged 5-14 years, divided into control and asthma case groups. Dietary habits were recorded, and exposure to 11 food contaminants was estimated with the CONT11 database. The study included 428 children, 264 with asthma and 164 without.</p><p><strong>Results: </strong>The findings of this study were consistent with those reported in other studies, indicating that exposure to nitrates and acrylamide was significantly higher in asthmatic children. The results suggest that exposure to certain contaminants could have a more pronounced effect on asthmatic children.</p><p><strong>Conclusions: </strong>The study demonstrates the importance of tools such as CONT11 in assessing food safety. Furthermore, it reinforces the need to prevent and reduce exposure to food contaminants to minimize health risks.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1240-1248"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628917","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
Impact of serial clinical swallow evaluations and feeding interventions on growth and feeding outcomes in children with long-gap esophageal atresia after anastomosis: a retrospective cohort study. 连续临床吞咽评估和喂养干预对吻合术后长间隙食管闭锁儿童的生长和喂养结果的影响:一项回顾性队列研究。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-12-01 Epub Date: 2024-11-15 DOI: 10.1007/s12519-024-00850-x
Jun-Li Wang, Run-Qi Huang, Chun-Yan Tang, Wen-Jie Wu, Fei Li, Tai Ren, Jun Wang, Wei-Hua Pan
{"title":"Impact of serial clinical swallow evaluations and feeding interventions on growth and feeding outcomes in children with long-gap esophageal atresia after anastomosis: a retrospective cohort study.","authors":"Jun-Li Wang, Run-Qi Huang, Chun-Yan Tang, Wen-Jie Wu, Fei Li, Tai Ren, Jun Wang, Wei-Hua Pan","doi":"10.1007/s12519-024-00850-x","DOIUrl":"10.1007/s12519-024-00850-x","url":null,"abstract":"<p><strong>Background: </strong>Children undergoing surgical anastomosis for long-gap esophageal atresia (LGEA) often suffer from complications related to delayed oral feeding, which may impair their early development. Clinical swallow evaluation (CSE) is an effective technique to improve feeding outcomes. However, there are limited evidences on the application of CSE in these children.</p><p><strong>Methods: </strong>Since 2020, serial CSEs have been consistently implemented for children undergoing anastomosis for LGEA in our hospital. We conducted a retrospective study comparing 19 children who received CSE with 31 historical controls who did not. Inverse probability of treatment weighting (IPTW) was applied to balance preoperative characteristics. We compared the time from surgery to full oral feeding and the rate of postoperative complications between the two groups. Growth curves for length-for-age Z score (LAZ) and weight-for-age Z score (WAZ) up to age 3 were fitted using generalized additive mixed models.</p><p><strong>Results: </strong>The median time to full oral feeding was 1.1 months [interquartile range (IQR), 0.8-2.4] in the CSE group and 1.5 months (IQR, 0.6-5.7) for controls. After IPTW, CSE was associated with a shorter time to full oral feeding, with a weighted hazard ratio of 2.26 [95% confidence interval (CI), 1.21 to 4.24]. LAZ growth curves significantly differed between groups (P = 0.001).</p><p><strong>Conclusion: </strong>CSE was associated with the expedited achievement of full oral feeding and a more favorable growth pattern before 3 years of age.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1293-1305"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628844","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}
引用次数: 0
Sleep-related movement disorders in children: recent updates. 儿童睡眠相关运动障碍:最新进展。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-28 DOI: 10.1007/s12519-024-00856-5
Melissa Cole, Narong Simakajornboon
{"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}
引用次数: 0
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. 更正:一项多中心前瞻性研究显示,较长的初始有创机械通气时间仍是早产儿患中重度支气管肺发育不良的重要风险因素。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-13 DOI: 10.1007/s12519-024-00852-9
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
{"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}
引用次数: 0
Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring: a cohort study. 母体疾病与后代肾脏和泌尿道先天性异常:一项队列研究。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-01 Epub Date: 2024-07-06 DOI: 10.1007/s12519-024-00822-1
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
{"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}
引用次数: 0
Neonatal encephalopathy due to suspected hypoxic ischemic encephalopathy: pathophysiology, current, and emerging treatments. 疑似缺氧缺血性脑病导致的新生儿脑病:病理生理学、当前和新出现的治疗方法。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-01 Epub Date: 2024-09-06 DOI: 10.1007/s12519-024-00836-9
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
{"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}
引用次数: 0
Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021. 中国重大出生缺陷患病率的时间趋势:2007 年至 2021 年全国人口研究。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-01 Epub Date: 2024-11-02 DOI: 10.1007/s12519-024-00844-9
Wen-Yan Li, Zhi-Yu Chen, Wen-Li Xu, Yu-Yang Gao, Zhen Liu, Qi Li, Li Dai
{"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}
引用次数: 0
LASSO-derived nomogram for early identification of pediatric monogenic lupus. 用于早期识别小儿单基因狼疮的 LASSO 派生提名图。
IF 6.1 2区 医学
World Journal of Pediatrics Pub Date : 2024-11-01 Epub Date: 2024-07-06 DOI: 10.1007/s12519-024-00817-y
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
{"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}
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