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Prenatal and postnatal factors associated with sudden infant death syndrome: an umbrella review of meta-analyses 与婴儿猝死综合征相关的产前和产后因素:荟萃分析综述
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-29 DOI: 10.1007/s12519-024-00806-1
Tae Hyeon Kim, Hyeri Lee, Selin Woo, Hayeon Lee, Jaeyu Park, Guillaume Fond, Laurent Boyer, Jong Woo Hahn, Jiseung Kang, Dong Keon Yon

Background

Comprehensive quantitative evidence on the risk and protective factors for sudden infant death syndrome (SIDS) effects is lacking. We investigated the risk and protective factors related to SIDS.

Methods

We conducted an umbrella review of meta-analyses of observational and interventional studies assessing SIDS-related factors. PubMed/MEDLINE, Embase, EBSCO, and Google Scholar were searched from inception until January 18, 2023. Data extraction, quality assessment, and certainty of evidence were assessed by using A Measurement Tool Assessment Systematic Reviews 2 following PRISMA guidelines. According to observational evidence, credibility was graded and classified by class and quality of evidence (CE; convincing, highly suggestive, suggestive, weak, or not significant). Our study protocol was registered with PROSPERO (CRD42023458696). The risk and protective factors related to SIDS are presented as equivalent odds ratios (eORs).

Results

We identified eight original meta-analyses, including 152 original articles, covering 12 unique risk and protective factors for SIDS across 21 countries/regions and five continents. Several risk factors, including prenatal drug exposure [eOR = 7.84 (95% CI = 4.81–12.79), CE = highly suggestive], prenatal opioid exposure [9.55 (95% CI = 4.87–18.72), CE = suggestive], prenatal methadone exposure [9.52 (95% CI = 3.34–27.10), CE = weak], prenatal cocaine exposure [4.38 (95% CI = 1.95–9.86), CE = weak], prenatal maternal smoking [2.25 (95% CI = 1.95–2.60), CE = highly suggestive], postnatal maternal smoking [1.97 (95% CI = 1.75–2.22), CE = weak], bed sharing [2.89 (95% CI = 1.81–4.60), CE = weak], and infants found with heads covered by bedclothes after last sleep [11.01 (95% CI = 5.40–22.45), CE = suggestive], were identified. On the other hand, three protective factors, namely, breastfeeding [0.57 (95% CI = 0.39–0.83), CE = non-significant], supine sleeping position [0.48 (95% CI = 0.37–0.63), CE = suggestive], and pacifier use [0.44 (95% CI = 0.30–0.65), CE = weak], were also identified.

Conclusions

Based on the evidence, we propose several risk and protective factors for SIDS. This study suggests the need for further studies on SIDS-related factors supported by weak credibility, no association, or a lack of adequate research.

Graphical abstract

背景目前还缺乏有关婴儿猝死综合症(SIDS)影响的风险和保护因素的全面定量证据。方法我们对评估婴儿猝死综合症相关因素的观察性和干预性研究的荟萃分析进行了综述。从开始到 2023 年 1 月 18 日,我们检索了 PubMed/MEDLINE、Embase、EBSCO 和 Google Scholar。数据提取、质量评估和证据的确定性均按照 PRISMA 指南使用系统性综述评估测量工具 2 进行评估。根据观察证据,可信度按等级和证据质量(CE;有说服力、高度提示性、提示性、弱或无意义)进行分级和分类。我们的研究方案已在 PROSPERO 注册(CRD42023458696)。与婴儿猝死综合症相关的风险因素和保护因素以等效几率比(eORs)表示。结果我们发现了 8 项原创荟萃分析,包括 152 篇原创文章,涉及婴儿猝死综合症的 12 个独特风险因素和保护因素,遍及 21 个国家/地区和五大洲。一些风险因素,包括产前药物暴露[eOR = 7.84 (95% CI = 4.81-12.79),CE =高度提示性]、产前阿片类药物暴露[9.55 (95% CI = 4.87-18.72),CE =提示性]、产前美沙酮暴露[9.52 (95% CI = 3.34-27.10),CE =弱]、产前可卡因暴露[4.38 (95% CI = 1.95-9.86),CE =弱]、产前鸦片类药物暴露[9.52 (95% CI = 3.34-27.10),CE =弱]。4.38 (95% CI = 1.95-9.86), CE = 弱]、产前母亲吸烟[2.25 (95% CI = 1.95-2.60), CE = 高度提示性]、产后母亲吸烟[1.97 (95% CI = 1.75-2.22), CE = 弱]、同床[2.89 (95% CI = 1.81-4.60), CE = 弱]以及最后一次睡眠后发现婴儿头部被床单覆盖[11.01 (95% CI = 5.40-22.45), CE = 提示性]。另一方面,还确定了三个保护因素,即母乳喂养[0.57 (95% CI = 0.39-0.83),CE = 非显著]、仰卧位[0.48 (95% CI = 0.37-0.63),CE = 提示性]和使用安抚奶嘴[0.44 (95% CI = 0.30-0.65),CE = 弱]。本研究表明,有必要对可信度弱、无关联或缺乏充分研究的婴儿猝死综合症相关因素进行进一步研究。
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引用次数: 0
Long-term outcomes of very low birth weight infants with intraventricular hemorrhage: a nationwide population study from 2011 to 2019 患有脑室内出血的极低出生体重儿的长期预后:2011-2019 年全国人口研究
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-13 DOI: 10.1007/s12519-024-00799-x
Joonsik Park, Sook-Hyun Park, Yu-ra Kwon, So Jin Yoon, Joo Hee Lim, Jung Ho Han, Jeong Eun Shin, Ho Seon Eun, Min Soo Park, Soon Min Lee

Background

Advancements in neonatal care have increased preterm infant survival but paradoxically raised intraventricular hemorrhage (IVH) rates. This study explores IVH prevalence and long-term outcomes of very low birth weight (VLBW) infants in Korea over a decade.

Methods

Using Korean National Health Insurance data (NHIS, 2010–2019), we identified 3372 VLBW infants with IVH among 4,129,808 live births. Health-related claims data, encompassing diagnostic codes, diagnostic test costs, and administered procedures were sourced from the NHIS database. The results of the developmental assessments are categorized into four groups based on standard deviation (SD) scores. Neonatal characteristics and complications were compared among the groups. Logistic regression models were employed to identify significant changes in the incidence of complications and to calculate odds ratios with corresponding 95% confidence intervals for each risk factor associated with mortality and morbidity in IVH. Long-term growth and development were compared between the two groups (years 2010–2013 and 2014–2017).

Results

IVH prevalence was 12% in VLBW and 16% in extremely low birth weight (ELBW) infants. Over the past decade, IVH rates increased significantly in ELBW infants (P = 0.0113), while mortality decreased (P = 0.0225). Major improvements in certain neurodevelopmental outcomes and reductions in early morbidities have been observed among VLBW infants with IVH. Ten percent of the population received surgical treatments such as external ventricular drainage (EVD) or a ventriculoperitoneal (VP) shunt, with the choice of treatment methods remaining consistent over time. The IVH with surgical intervention group exhibited higher incidences of delayed development, cerebral palsy, seizure disorder, and growth failure (height, weight, and head circumference) up to 72 months of age (P < 0.0001). Surgical treatments were also significantly associated with abnormal developmental screening test results.

Conclusions

The neurodevelopmental outcomes of infants with IVH, especially those subjected to surgical treatments, continue to be a matter of concern. It is imperative to prioritize specialized care for patients receiving surgical treatments and closely monitor their growth and development after discharge to improve developmental prognosis.

Supplementary file2 (MP4 77987 kb)

背景新生儿护理的进步提高了早产儿的存活率,但矛盾的是却增加了脑室内出血(IVH)的发生率。本研究探讨了十年来韩国极低出生体重儿(VLBW)的 IVH 患病率和长期预后。方法利用韩国国民健康保险数据(NHIS,2010-2019 年),我们在 4,129,808 名活产婴儿中发现了 3372 名患有 IVH 的 VLBW 婴儿。与健康相关的索赔数据,包括诊断代码、诊断测试费用和管理程序均来自 NHIS 数据库。发育评估结果根据标准差 (SD) 分数分为四组。比较了各组新生儿的特征和并发症。采用逻辑回归模型确定并发症发生率的显著变化,并计算与 IVH 死亡率和发病率相关的各风险因素的几率比及相应的 95% 置信区间。对两组婴儿(2010-2013年和2014-2017年)的长期生长发育情况进行了比较。结果IVH发生率在VLBW婴儿中为12%,在极低出生体重(ELBW)婴儿中为16%。在过去十年中,ELBW婴儿的IVH发生率显著增加(P = 0.0113),而死亡率却有所下降(P = 0.0225)。在患有 IVH 的 VLBW 婴儿中,某些神经发育结果得到明显改善,早期发病率也有所下降。10%的患儿接受了手术治疗,如脑室外引流术(EVD)或脑室腹腔分流术(VP),治疗方法的选择随着时间的推移保持一致。接受手术治疗的 IVH 患儿在 72 个月大时,发育迟缓、脑瘫、癫痫发作和发育不良(身高、体重和头围)的发生率较高(P < 0.0001)。结论IVH患儿,尤其是接受手术治疗的患儿的神经发育结果仍然令人担忧。当务之急是优先为接受手术治疗的患者提供专业护理,并密切监测他们出院后的生长发育情况,以改善发育预后。
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引用次数: 0
Age and mean platelet volume-based nomogram for predicting the therapeutic efficacy of metoprolol in Chinese pediatric patients with vasovagal syncope 基于年龄和平均血小板体积的预测美托洛尔对中国儿童血管迷走性晕厥患者疗效的提名图
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-13 DOI: 10.1007/s12519-024-00802-5
Xiao-Juan Du, Ya-Qian Huang, Xue-Ying Li, Ying Liao, Hong-Fang Jin, Jun-Bao Du

Background

Vasovagal syncope (VVS) is the most common type of orthostatic intolerance in children. We investigated whether platelet-related factors related to treatment efficacy in children suffering from VVS treated with metoprolol.

Methods

Metoprolol-treated VVS patients were recruited. The median duration of therapy was three months. Patients were followed and divided into two groups, treament-effective group and treatment-ineffective group. Logistic and least absolute shrinkage selection operator regressions were used to examine treatment outcome variables. Receiver-operating characteristic (ROC) curves, precision–recall (PR) curves, calibration plots, and decision curve analyses were used to evaluate the nomogram model.

Results

Among the 72 patients who complete the follow-up, treatment-effective group and treatment-ineffective group included 42 (58.3%) and 30 (41.7%) cases, respectively. The patients in the treatment-effective group exhibited higher mean platelet volume (MPV) [(11.0 ± 1.0) fl vs. (9.8 ± 1.0) fl, P < 0.01] and platelet distribution width [12.7% (12.3%, 14.3%) vs. 11.3% (10.2%, 12.2%), P < 0.01] than those in the treatment-ineffective group. The sex ratio was significantly different (P = 0.046). A fit model comprising age [odds ratio (OR) = 0.766, 95% confidence interval (CI) = 0.594–0.987] and MPV (OR = 5.613, 95% CI = 2.297–13.711) might predict therapeutic efficacy. The area under the curve of the ROC and PR curves was computed to be 0.85 and 0.9, respectively. The P value of the Hosmer–Lemeshow test was 0.27. The decision curve analysis confirmed that managing children with VVS based on the predictive model led to a net advantage ranging from 0.01 to 0.58. The nomogram is convenient for clinical applications.

Conclusion

A novel nomogram based on age and MPV can predict the therapeutic benefits of metoprolol in children with VVS.

背景血管迷走性晕厥(VVS)是儿童中最常见的直立性不耐受类型。我们研究了血小板相关因素是否与美托洛尔治疗 VVS 儿童的疗效有关。中位治疗时间为三个月。对患者进行随访,并将其分为两组,即治疗有效组和治疗无效组。采用逻辑回归和最小绝对缩小选择运算回归来检验治疗结果变量。结果在完成随访的 72 例患者中,治疗有效组和治疗无效组分别有 42 例(58.3%)和 30 例(41.7%)。治疗有效组患者的平均血小板体积(MPV)[(11.0 ± 1.0)fl vs. (9.8 ± 1.0)fl,P < 0.01]和血小板分布宽度[12.7% (12.3%, 14.3%) vs. 11.3% (10.2%, 12.2%),P < 0.01]均高于治疗无效组患者。性别比例有明显差异(P = 0.046)。由年龄[几率比(OR)= 0.766,95% 置信区间(CI)= 0.594-0.987]和 MPV(OR = 5.613,95% CI = 2.297-13.711)组成的拟合模型可预测疗效。经计算,ROC 曲线和 PR 曲线的曲线下面积分别为 0.85 和 0.9。Hosmer-Lemeshow 检验的 P 值为 0.27。决策曲线分析证实,根据预测模型管理 VVS 患儿可获得 0.01 至 0.58 的净优势。结论 基于年龄和 MPV 的新型提名图可以预测美托洛尔对 VVS 儿童的治疗效果。
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引用次数: 0
Prospective cohort study on facial profile changes in infants with Robin sequence and healthy controls 关于罗宾序列婴儿和健康对照组面部轮廓变化的前瞻性队列研究
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-05 DOI: 10.1007/s12519-024-00797-z
Cornelia Wiechers, Julian Sowula, Karen Kreutzer, Christoph E. Schwarz, Christina Weismann, Michael Krimmel, Christian F. Poets, Bernd Koos

Background

Various conservative and surgical approaches exist to treat Robin sequence (RS), but their effects on facial profile and mandibular catch-up growth are unclear. A functional treatment concept, used in our centre for 25 years, includes an individualized palatal plate with a velo-pharyngeal extension and intensive feeding training.

Methods

We performed a prospective study to objectively describe facial profiles in infants with RS treated with the above concept. Infants with isolated RS were admitted to our tertiary perinatal and national referral centre for craniofacial malformations between May 2018 and Nov 2019. Infants with RS received 3D-photographs during clinically indicated visits. Healthy controls were recruited from Dec 2018 to Sep 2019 and received 3D-photographs every 3 months. The digitally measured jaw index (JI), defined as alveolar overjet (O) x maxillary arch (U)/mandibular arch (L), and the soft tissue reference points A’-point, Nasion’, B’-point angle (ANB’), describing the relative position of maxilla to mandible, were evaluated. Linear mixed models were used to examine time trajectories in JI and ANB’.

Results

A total of 207 3D images, obtained in 19 infants with RS and 32 controls, were analysed. JI and ANB’ decreased over time in both groups [for JI − 0.18 (95% CI − 0.25 to − 0.10); for ANB’: − 0.40° per month [(95% CI − 0.48 to − 0.32)]] but remained lower in controls [for JI − 2.5 (95% CI − 3.2 to − 1.8); for ANB’-1.7° (95% CI − 2.4 to − 1.0)]. Also, the ANB’ model showed a significant effect of the interaction term diagnosis x age.

Conclusions

Based on longitudinal 3D images, we describe changes in objective parameters of facial profile in infants with and without RS during the first year of life. Our findings indicate catch-up growth in infants treated for RS.

Video Abstract

背景目前有多种保守和手术方法治疗罗宾序列(Robin sequence,RS),但这些方法对面部轮廓和下颌骨发育的影响尚不清楚。方法我们进行了一项前瞻性研究,以客观描述采用上述方法治疗的罗宾氏序列婴儿的面部轮廓。2018年5月至2019年11月期间,我们的三级围产期和国家颅面畸形转诊中心收治了患有孤立性RS的婴儿。患有 RS 的婴儿在有临床指征的就诊期间接受了 3D 摄影。健康对照组于 2018 年 12 月至 2019 年 9 月期间招募,每 3 个月接受一次 3D 摄影。对数字化测量的下颌指数(JI)(定义为牙槽骨过突(O)x上颌弓(U)/下颌弓(L))和软组织参考点A'-点、Nasion'、B'-点角(ANB')进行了评估,A'-点、Nasion'、B'-点角描述了上颌骨与下颌骨的相对位置。结果 分析了 19 名 RS 患儿和 32 名对照组患儿的 207 张三维图像。随着时间的推移,两组婴儿的JI和ANB'均有所下降[对于JI,每月下降0.18(95% CI - 0.25至 - 0.10);对于ANB',每月下降0.40°]:- 每月 0.40°[(95% CI - 0.48 至 - 0.32)]],但在对照组中仍然较低[JI 为 - 2.5(95% CI - 3.2 至 - 1.8);ANB'为 -1.7°(95% CI - 2.4 至 - 1.0)]。结论基于纵向三维图像,我们描述了患有和未患有 RS 的婴儿在出生后第一年内面部轮廓客观参数的变化。我们的研究结果表明,接受过 RS 治疗的婴儿会出现追赶性生长。
{"title":"Prospective cohort study on facial profile changes in infants with Robin sequence and healthy controls","authors":"Cornelia Wiechers, Julian Sowula, Karen Kreutzer, Christoph E. Schwarz, Christina Weismann, Michael Krimmel, Christian F. Poets, Bernd Koos","doi":"10.1007/s12519-024-00797-z","DOIUrl":"https://doi.org/10.1007/s12519-024-00797-z","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Background</h3><p>Various conservative and surgical approaches exist to treat Robin sequence (RS), but their effects on facial profile and mandibular catch-up growth are unclear. A functional treatment concept, used in our centre for 25 years, includes an individualized palatal plate with a velo-pharyngeal extension and intensive feeding training.</p><h3 data-test=\"abstract-sub-heading\">Methods</h3><p>We performed a prospective study to objectively describe facial profiles in infants with RS treated with the above concept. Infants with isolated RS were admitted to our tertiary perinatal and national referral centre for craniofacial malformations between May 2018 and Nov 2019. Infants with RS received 3D-photographs during clinically indicated visits. Healthy controls were recruited from Dec 2018 to Sep 2019 and received 3D-photographs every 3 months. The digitally measured jaw index (JI), defined as alveolar overjet (O) x maxillary arch (U)/mandibular arch (L), and the soft tissue reference points A’-point, Nasion’, B’-point angle (ANB’), describing the relative position of maxilla to mandible, were evaluated. Linear mixed models were used to examine time trajectories in JI and ANB’<b>.</b></p><h3 data-test=\"abstract-sub-heading\">Results</h3><p>A total of 207 3D images, obtained in 19 infants with RS and 32 controls, were analysed. JI and ANB’ decreased over time in both groups [for JI − 0.18 (95% CI − 0.25 to − 0.10); for ANB’: − 0.40° per month [(95% CI − 0.48 to − 0.32)]] but remained lower in controls [for JI − 2.5 (95% CI − 3.2 to − 1.8); for ANB’-1.7° (95% CI − 2.4 to − 1.0)]. Also, the ANB’ model showed a significant effect of the interaction term diagnosis x age.</p><h3 data-test=\"abstract-sub-heading\">Conclusions</h3><p>Based on longitudinal 3D images, we describe changes in objective parameters of facial profile in infants with and without RS during the first year of life. Our findings indicate catch-up growth in infants treated for RS.</p>\u0000<p>Video Abstract</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":"32 1","pages":""},"PeriodicalIF":8.7,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140589308","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
Prevalence of hypertension and its associations with body composition across Chinese and American children and adolescents. 中国和美国儿童及青少年的高血压患病率及其与身体成分的关系。
IF 6.1 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-07-13 DOI: 10.1007/s12519-023-00740-8
Li-Wang Gao, Yi-Wen Huang, Hong Cheng, Xi Wang, Hong-Bo Dong, Pei Xiao, Yin-Kun Yan, Xin-Ying Shan, Xiao-Yuan Zhao, Jie Mi

Background: The age of onset of hypertension (HTN) is decreasing, and obesity is a significant risk factor. The prevalence and racial disparities in pediatric HTN and the association between body composition and blood pressure are insufficiently studied. This study aimed to evaluate the prevalence of HTN in Chinese and American children and adolescents and to assess the relationship between various body composition indices and HTN.

Methods: Seven thousand, five hundred and seventy-three Chinese and 6239 American children and adolescents aged 8-18 years from the 2013-2015 China Child and Adolescent Cardiovascular Health study and the 2011-2018 National Health and Nutrition Examination Surveys were analyzed. Blood pressure and body composition (fat and muscle) were measured by trained staff. The crude prevalence and age-standardized prevalence rate (ASPR) of primary HTN and its subtypes [isolated systolic hypertension (ISH) and isolated diastolic hypertension (IDH)] were calculated based on 2017 American Academy of Pediatrics guidelines. Multivariable-adjusted linear regression coefficients and odds ratios (ORs) were calculated to assess the associations of body composition indicators with HTN, ISH and IDH.

Results: The ASPR of HTN was 18.5% in China (CN) and 4.6% in the United States (US), whereas the obesity prevalence was 7.4% and 18.6%, and the population attributable risk of HTN caused by overweight and obesity was higher in the US than in CN. Increased fat mass, muscle mass and body fat percentage mass were associated with a higher risk of HTN in both countries. The percent of muscle body mass had a protective effect on HTN and ISH in both countries [HTN (CN: OR = 0.83, 95% CI = 0.78-0.88; US: OR = 0.72, 95% CI = 0.64-0.81); ISH (CN: OR = 0.87, 95% CI = 0.80-0.94; US: OR = 0.71, 95% CI = 0.62-0.81)], and the protective effect was more common among children and adolescents with high levels of physical activity.

Conclusions: The burden of HTN in Chinese children and adolescents was substantial and much greater than that in the US, and the contribution of obesity to HTN was higher in the US than in CN. Augmenting the proportion of muscle mass in body composition has a protective effect against HTN in both populations. Optimizing body composition positively influences blood pressure in children and adolescents, particularly those with high-level physical activity. Video abstract (MP4 149982 KB).

背景:高血压(HTN)的发病年龄正在下降,而肥胖是一个重要的风险因素。目前对小儿高血压的发病率和种族差异以及身体成分与血压之间的关系研究不足。本研究旨在评估中国和美国儿童及青少年的高血压患病率,并评估各种身体成分指数与高血压之间的关系:方法:分析了 2013-2015 年中国儿童青少年心血管健康研究和 2011-2018 年美国国家健康与营养调查中年龄在 8-18 岁的 7 573 名中国儿童和 6 239 名美国儿童和青少年。血压和身体成分(脂肪和肌肉)由经过培训的工作人员测量。根据2017年美国儿科学会指南,计算了原发性高血压及其亚型[孤立性收缩期高血压(ISH)和孤立性舒张期高血压(IDH)]的粗患病率和年龄标准化患病率(ASPR)。计算了经多变量调整的线性回归系数和几率比(ORs),以评估身体成分指标与HTN、ISH和IDH的关联:中国和美国的高血压患病率分别为18.5%和4.6%,而肥胖患病率分别为7.4%和18.6%,超重和肥胖导致的高血压人群归因风险在美国高于中国。在这两个国家,脂肪量、肌肉量和体脂百分比量的增加与较高的高血压风险有关。在这两个国家,肌肉质量百分比对高血压和ISH都有保护作用[高血压(中国:OR = 0.83,95% CI = 0.78-0.88;美国:OR = 0.72,95% CI = 0.64-0.81);ISH(中国:OR = 0.87,95% CI = 0.80-0.94;美国:OR = 0.71,95% CI = 0.62-0.81)],这种保护作用在体力活动水平高的儿童和青少年中更为常见:结论:中国儿童和青少年的高血压负担沉重,远高于美国,而肥胖对高血压的影响在美国高于中国。在这两个人群中,提高肌肉质量在身体组成中的比例对高血压都有保护作用。优化身体成分对儿童和青少年的血压有积极影响,尤其是那些运动量大的儿童和青少年。视频摘要(MP4 149982 KB)。
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引用次数: 0
Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. 10名因11beta-羟化酶缺乏导致先天性肾上腺增生症的中国儿童的临床和分子特征。
IF 6.1 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-07-24 DOI: 10.1007/s12519-023-00739-1
Wen-Li Lu, Xiao-Yu Ma, Jiao Zhang, Jun-Qi Wang, Ting-Ting Zhang, Lei Ye, Yuan Xiao, Zhi-Ya Dong, Wei Wang, Shou-Yue Sun, Chuan-Yin Li, Rong-Gui Hu, Guang Ning, Li-Dan Zhang

Background: The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of non-classical 21-hydroxylase deficiency. For this study, we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature, which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.

Methods: Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed. We examined the effects of gene mutations on protease activity and constructed three-dimensional structure prediction models of proteins.

Results: We describe 10 patients with 11beta-hydroxylase gene mutations (n = 5, 46,XY; n = 5, 46,XX), with 10 novel mutations were reported. Female patients received treatment at an early stage, with an average age of 2.08 ± 1.66 years, whereas male patients received treatment significantly later, at an average age of 9.77 ± 3.62 years. The most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C > T. All mutations lead to spatial conformational changes that affect protein stability.

Conclusions: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.

背景:非典型11beta-羟化酶缺乏症的临床表现与非典型21-羟化酶缺乏症非常相似。本研究探讨了 11beta- 羟化酶缺乏所致先天性肾上腺皮质增生症的临床特征与分子特征之间的关系,并对相关文献进行了综述,以期为先天性肾上腺皮质增生症的临床诊断和分析提供帮助:回顾性分析2018年至2022年在我院确诊为先天性肾上腺增生症的10例中国患者的临床资料。我们研究了基因突变对蛋白酶活性的影响,并构建了蛋白质的三维结构预测模型.结果:我们描述了10例11beta-羟化酶基因突变的患者(n=5,46,XY;n=5,46,XX),其中报告了10例新型突变。女性患者接受治疗的时间较早,平均年龄为(2.08 ± 1.66)岁,而男性患者接受治疗的时间明显较晚,平均年龄为(9.77 ± 3.62)岁。在中国人群中,最常见的 CYP11B1 致病变异是 c.1360C > T。所有突变都会导致空间构象变化,从而影响蛋白质的稳定性:我们的研究发现,每种特定基因突变与临床表现的严重程度之间没有明显的相关性。具有相同基因致病变异的不同患者可能具有或轻或重的临床表现。基因型与表型之间的相关性有待进一步研究。三维蛋白质模拟可为基因突变的生理病理机制提供更多支持。
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引用次数: 0
Height and body mass index trajectories from 1975 to 2015 and prevalence of stunting, underweight and obesity in 2016 among children in Chinese cities: findings from five rounds of a national survey. 1975-2015年中国城市儿童身高和体重指数轨迹及2016年发育迟缓、体重不足和肥胖患病率:五轮全国调查的结果。
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-08-17 DOI: 10.1007/s12519-023-00747-1
Xin-Nan Zong, Hui Li, Ya-Qin Zhang

Background: A more comprehensive assessment of growth and nutrition in children is required in China due to rapid socioeconomic processes. We aimed to investigate height and body mass index (BMI) trajectories from 1975 to 2015 and the prevalence of stunting and obesity in 2016 among children in Chinese cities.

Methods: A total of 904,263 children from birth to 6.9 years were collected from a series of nationally representative surveys in China. Height and BMI trajectories and prevalence of stunting, underweight, overweight and obesity were assessed.

Results: The average height level of Chinese urban children under 7 years presented a positive secular trend from 1975 to 2015; however, a slowing tendency occurred in 2005‒2015. An apparent increase was observed at the 5th, 50th and 95th percentiles of BMI in urban children aged 3 years and older, with a more prominent increase at the 95th percentile. The total prevalence of stunting and underweight under 7 years was 1.4% and 2.0%, respectively. The total prevalence of overweight and obesity under 7 years was 12.6% and 4.3%, respectively, with 12.7% and 4.9% for boys, 12.6% and 3.6% for girls, 12.1% and 4.0% in urban areas and 13.1% and 4.5% in suburban rural areas.

Conclusions: The average height level of Chinese urban children has reached World Health Organization child growth standards since 2005 and presented a slowing tendency in secular trend in 2005‒2015. More attention and efforts and public health interventions should be urgently made to combat overweight and obesity among preschool children. Video Abstract.

背景:由于社会经济的快速发展,中国需要对儿童的生长和营养状况进行更全面的评估。我们旨在调查 1975 年至 2015 年中国城市儿童的身高和体重指数(BMI)变化轨迹,以及 2016 年儿童发育迟缓和肥胖的发生率:从中国一系列具有全国代表性的调查中收集了 904 263 名出生至 6.9 岁的儿童。评估了身高和体重指数轨迹以及发育迟缓、体重不足、超重和肥胖的患病率:结果:1975-2015 年间,中国城市 7 岁以下儿童的平均身高水平呈现出积极的长期趋势,但在 2005-2015 年间出现了放缓趋势。3岁及以上城市儿童的体重指数在第5、第50和第95百分位数都出现了明显的增长,其中第95百分位数的增长更为显著。7 岁以下发育迟缓和体重不足的总发生率分别为 1.4% 和 2.0%。7岁以下超重和肥胖的总发生率分别为12.6%和4.3%,其中男孩为12.7%和4.9%,女孩为12.6%和3.6%,城市地区为12.1%和4.0%,郊区农村地区为13.1%和4.5%:结论:中国城市儿童的平均身高水平自2005年起达到世界卫生组织儿童生长标准,2005-2015年呈逐年放缓趋势。应对学龄前儿童超重和肥胖问题,亟需更多的关注、努力和公共卫生干预。视频摘要
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引用次数: 0
Unveiling the silent crisis: global burden of suicide-related deaths among children aged 10-14 years. 揭开无声危机的面纱:10-14 岁儿童自杀相关死亡的全球负担。
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2024-01-19 DOI: 10.1007/s12519-023-00781-z
Irmina Maria Michalek, Pawel Koczkodaj, Marzena Michalek, Florentino Luciano Caetano Dos Santos

Background: The rise in suicides among children aged 10-14 years demands urgent attention globally. This study aims to assess the global burden of suicide-related deaths in this age group from 1990 to 2019, considering factors such as sex, geography, and sociodemographics, to inform prevention strategies and interventions.

Methods: The data from Global Burden of Disease 2019, encompassing 204 countries and territories, were analyzed to investigate deaths and years of life lost (YLLs) due to suicide among children aged 10-14 years. Statistical analyses, including mortality rates, YLLs, and the sociodemographic index (SDI), were conducted using standardized tools.

Results: In 2019, a total of 8327 [95% uncertainty interval (UI) = 7073-9685] children aged 10-14 years died globally due to suicide, with a mortality rate of 1.30 (95% UI = 1.10-1.51) per 100,000. The rates varied across countries/territories ranging between 0.05 (95% UI = 0.02-0.10) in South Africa and 7.49 (95% UI = 5.13-10.57) in Greenland. The contribution of suicide-related deaths to all-cause mortality ranged from 0.07% (95% UI = 0.04%-0.15%) in South Africa to 33.02% (95% UI = 24.36%-41.53%) in Greenland. Worldwide, there were approximately 636,196 (95% UI = 540,383-740,009) YLLs due to suicide, with a rate of 99.07 (95% UI = 84.15-115.23) per 100,000. The association between SDI and suicide-related deaths was evident, with higher contributions observed in countries with higher SDI.

Conclusions: This study reveals a concerning global burden of suicide-related deaths among children aged 10-14 years. Despite progress in reducing mortality rates, suicide remains a significant issue. While overall rates have declined, the percentage of deaths caused by suicide in this age group is increasing.

背景:10-14 岁儿童自杀率的上升亟需全球关注。本研究旨在评估 1990 年至 2019 年期间该年龄组自杀相关死亡的全球负担,同时考虑性别、地域和社会人口等因素,为预防策略和干预措施提供参考:分析了《2019 年全球疾病负担》(Global Burden of Disease 2019)的数据,其中包括 204 个国家和地区的数据,以调查 10-14 岁儿童因自杀导致的死亡人数和生命损失年数(YLLs)。使用标准化工具进行了统计分析,包括死亡率、生命损失年数和社会人口指数(SDI):2019 年,全球共有 8327 [95% 不确定区间 (UI) = 7073-9685]名 10-14 岁儿童死于自杀,死亡率为每 10 万人 1.30 (95% UI = 1.10-1.51)。不同国家/地区的死亡率各不相同,南非为 0.05(95% UI = 0.02-0.10),格陵兰为 7.49(95% UI = 5.13-10.57)。自杀相关死亡占全因死亡率的比例从南非的 0.07% (95% UI = 0.04%-0.15%) 到格陵兰的 33.02% (95% UI = 24.36%-41.53%) 不等。在全球范围内,约有 636,196 人 (95% UI = 540,383-740,009) 因自杀而永生,自杀率为 99.07 (95% UI = 84.15-115.23)/100,000。SDI与自杀相关死亡之间存在明显联系,SDI越高的国家,自杀相关死亡越多:这项研究揭示了全球 10-14 岁儿童中与自杀相关的死亡负担令人担忧。尽管在降低死亡率方面取得了进展,但自杀仍是一个重要问题。虽然总体自杀率有所下降,但这一年龄段儿童因自杀死亡的比例却在上升。
{"title":"Unveiling the silent crisis: global burden of suicide-related deaths among children aged 10-14 years.","authors":"Irmina Maria Michalek, Pawel Koczkodaj, Marzena Michalek, Florentino Luciano Caetano Dos Santos","doi":"10.1007/s12519-023-00781-z","DOIUrl":"10.1007/s12519-023-00781-z","url":null,"abstract":"<p><strong>Background: </strong>The rise in suicides among children aged 10-14 years demands urgent attention globally. This study aims to assess the global burden of suicide-related deaths in this age group from 1990 to 2019, considering factors such as sex, geography, and sociodemographics, to inform prevention strategies and interventions.</p><p><strong>Methods: </strong>The data from Global Burden of Disease 2019, encompassing 204 countries and territories, were analyzed to investigate deaths and years of life lost (YLLs) due to suicide among children aged 10-14 years. Statistical analyses, including mortality rates, YLLs, and the sociodemographic index (SDI), were conducted using standardized tools.</p><p><strong>Results: </strong>In 2019, a total of 8327 [95% uncertainty interval (UI) = 7073-9685] children aged 10-14 years died globally due to suicide, with a mortality rate of 1.30 (95% UI = 1.10-1.51) per 100,000. The rates varied across countries/territories ranging between 0.05 (95% UI = 0.02-0.10) in South Africa and 7.49 (95% UI = 5.13-10.57) in Greenland. The contribution of suicide-related deaths to all-cause mortality ranged from 0.07% (95% UI = 0.04%-0.15%) in South Africa to 33.02% (95% UI = 24.36%-41.53%) in Greenland. Worldwide, there were approximately 636,196 (95% UI = 540,383-740,009) YLLs due to suicide, with a rate of 99.07 (95% UI = 84.15-115.23) per 100,000. The association between SDI and suicide-related deaths was evident, with higher contributions observed in countries with higher SDI.</p><p><strong>Conclusions: </strong>This study reveals a concerning global burden of suicide-related deaths among children aged 10-14 years. Despite progress in reducing mortality rates, suicide remains a significant issue. While overall rates have declined, the percentage of deaths caused by suicide in this age group is increasing.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"371-391"},"PeriodicalIF":8.7,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11052841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492275","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
Development and validation of a novel non-invasive test for diagnosing nonalcoholic fatty liver disease in Chinese children. 用于诊断中国儿童非酒精性脂肪肝的新型无创检测方法的开发与验证
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-04-01 DOI: 10.1007/s12519-023-00704-y
Zhe-Wen Qin, Qian-Nan Ren, Hong-Xi Zhang, Ya-Ru Liu, Ke Huang, Wei Wu, Guan-Ping Dong, Yan Ni, Jun-Fen Fu

Background: With the exploding prevalence of obesity, many children are at risk of developing nonalcoholic fatty liver disease. Using anthropometric and laboratory parameters, our study aimed to develop a model to quantitatively evaluate liver fat content (LFC) in children with obesity.

Methods: A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the Endocrinology Department as the derivation cohort. The external validation cohort comprised 77 children. The assessment of liver fat content was performed using proton magnetic resonance spectroscopy. Anthropometry and laboratory metrics were measured in all subjects. B-ultrasound examination was carried out in the external validation cohort. The Kruskal-Wallis test, Spearman bivariate correlation analyses, univariable linear regressions and multivariable linear regression were used to build the optimal predictive model.

Results: The model was based on indicators including alanine aminotransferase, homeostasis model assessment of insulin resistance, triglycerides, waist circumference and Tanner stage. The adjusted R2 of the model was 0.589, which presented high sensitivity and specificity both in internal [sensitivity of 0.824, specificity of 0.900, area under curve (AUC) of 0.900 with a 95% confidence interval: 0.783-1.000] and external validation (sensitivity of 0.918 and specificity of 0.821, AUC of 0.901 with a 95% confidence interval: 0.818-0.984).

Conclusions: Our model based on five clinical indicators was simple, non-invasive, and inexpensive; it had high sensitivity and specificity in predicting LFC in children. Thus, it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

背景:随着肥胖症发病率的急剧上升,许多儿童都面临着罹患非酒精性脂肪肝的风险。我们的研究旨在利用人体测量和实验室参数建立一个模型,定量评估肥胖儿童的肝脏脂肪含量(LFC):方法:内分泌科招募了181名5至16岁的儿童作为衍生队列。外部验证队列由 77 名儿童组成。肝脏脂肪含量的评估采用质子磁共振光谱法进行。对所有受试者进行了人体测量和实验室指标测量。外部验证组群进行了 B 超检查。采用 Kruskal-Wallis 检验、Spearman 双变量相关性分析、单变量线性回归和多变量线性回归来建立最佳预测模型:该模型基于丙氨酸氨基转移酶、胰岛素抵抗稳态模型评估、甘油三酯、腰围和坦纳分期等指标。该模型的调整 R2 为 0.589,在内部验证(灵敏度为 0.824,特异性为 0.900,曲线下面积(AUC)为 0.900,95% 置信区间为 0.783-1.000)和外部验证(灵敏度为 0.918,特异性为 0.821,曲线下面积(AUC)为 0.901,95% 置信区间为 0.818-0.984)中均表现出较高的灵敏度和特异性:我们的模型基于五项临床指标,简单、无创、成本低廉;在预测儿童 LFC 方面具有较高的灵敏度和特异性。结论:我们的模型基于五项临床指标,简单、无创、廉价,在预测儿童 LFC 方面具有较高的灵敏度和特异性,因此可用于识别有患非酒精性脂肪肝风险的肥胖儿童。
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引用次数: 0
Sex differences in the risk of retinopathy of prematurity: a systematic review, frequentist and Bayesian meta-analysis, and meta-regression. 早产儿视网膜病变风险的性别差异:一项系统综述,频率分析和贝叶斯荟萃分析,以及荟萃回归。
IF 8.7 2区 医学 Q1 PEDIATRICS Pub Date : 2024-04-01 Epub Date: 2023-11-27 DOI: 10.1007/s12519-023-00775-x
Tamara M Hundscheid, Silvia Gulden, Mohamad F Almutairi, František Bartoš, Giacomo Cavallaro, Eduardo Villamor

Background: Retinopathy of prematurity (ROP) is generally considered to be more frequent in males than in females. However, it is not known whether sex differences in ROP affect all degrees of the condition, are global and have changed as neonatology has developed. We aimed to conduct a systematic review and meta-analysis of studies addressing sex differences in the risk of developing ROP.

Methods: PubMed/MEDLINE and Embase databases were searched. The frequentist, random-effects risk ratio (RR) and 95% confidence interval (CI) were calculated. Bayesian model averaged (BMA) meta-analysis was used to calculate the Bayes factors (BFs). The BF10 is the ratio of the probability of the data under the alternative hypothesis (H1) over the probability of the data under the null hypothesis (H0).

Results: We included 205 studies (867,252 infants). Frequentist meta-analysis showed a positive association between male sex and severe ROP (113 studies, RR = 1.14, 95% CI = 1.07-1.22) but no association with any ROP (144 studies, RR = 1.00, 95% CI = 0.96-1.03). BMA showed extreme evidence in favor of H1 for severe ROP (BF10 = 71,174) and strong evidence in favor of H0 for any ROP (BF10 = 0.05). The association between male sex and severe ROP remained stable over time and was present only in cohorts from countries with a high or high-middle sociodemographic index.

Conclusions: Our study confirms the presence of a male disadvantage in severe ROP but not in less severe forms of the disease. There are variations in the sex differences in ROP, depending on geographical location and sociodemographic level of the countries.

背景:早产儿视网膜病变(ROP)通常被认为在男性中比女性更常见。然而,目前尚不清楚ROP的性别差异是否会影响所有程度的情况,是否具有全球性,是否随着新生儿学的发展而发生变化。我们的目的是对研究ROP发生风险的性别差异进行系统回顾和荟萃分析。方法:检索PubMed/MEDLINE和Embase数据库。计算频率、随机效应风险比(RR)和95%置信区间(CI)。采用贝叶斯模型平均(BMA)元分析计算贝叶斯因子(BFs)。BF10是备择假设(H1)下数据的概率与零假设(H0)下数据的概率之比。结果:我们纳入205项研究(867,252名婴儿)。频率分析显示,男性与严重ROP呈正相关(113项研究,RR = 1.14, 95% CI = 1.07-1.22),但与ROP无关(144项研究,RR = 1.00, 95% CI = 0.96-1.03)。BMA对严重ROP表现为极端的H1 (BF10 = 71,174),对任何ROP表现为强烈的H0 (BF10 = 0.05)。随着时间的推移,男性与严重ROP之间的关系保持稳定,并且只存在于社会人口指数较高或中高的国家的队列中。结论:我们的研究证实了男性在严重ROP中存在劣势,但在较轻的疾病形式中没有。根据各国的地理位置和社会人口水平,劳动生产率的性别差异有所不同。
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引用次数: 0
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World Journal of Pediatrics
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