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Measurement, consequences and determinants of time to diagnosis in children with new-onset heart failure: A population-based retrospective study (DIACARD study).

新发心力衰竭儿童诊断时间的测量、后果和决定因素: 一项基于人群的回顾性研究 (DIACARD 研究)。

  • 影响因子:2.01
  • DOI:10.1016/j.ijcard.2020.06.007
  • 作者列表:"Saïd B","David M","Nadir B","Laurianne LG","Christèle GG","Alban-Elouen B","Elise L
  • 发表时间:2020-06-15
Abstract

BACKGROUND:Time from first symptoms to diagnosis, called time to diagnosis, is related to prognosis in several diseases. The aim of this study was to assess time to diagnosis in children with new-onset heart failure (HF) and assess its consequences and determinants. METHODS:A retrospective population-based observational study was conducted between 2007 and 2016 in a French tertiary care center. We included all children under 16 years old with no known heart disease, and HF confirmed by echocardiography. With logistic regression used for outcomes and a Cox proportional-hazards model for determinants, analyses were stratified by HF etiology: congenital heart diseases (CHD) and cardiomyopathies/myocarditis (CM). RESULTS:A total of 117 children were included (median age [interquartile range (IQR)] 25 days (6-146), 50.4% were male, 60 had CHD and 57 had CM). Overall median (IQR) time to diagnosis was 3.3 days (1.0-21.2). The frequency of 1-year mortality was 17% and 1-year neuromotor sequel 18%. Death at 1 year was associated with low birth weight for all children (adjusted odds ratio 0.24, 95% confidence interval [CI] 0.08-0.68) and time to diagnosis below the median with CM (0.09, 0.01-0.87). Short time to diagnosis was associated with clinical severity on the first day of symptoms for all patients (adjusted hazard ratio 3.39, 95% CI 2.01-5.72), and young age with CM (0.09, 0.02-0.41). CONCLUSIONS:In children with new-onset HF presenting in our region, median time to diagnosis was short. Long time to diagnosis was not associated with poor outcome.

摘要

背景: 从首发症状到确诊的时间,称为确诊时间,与几种疾病的预后有关。本研究的目的是评估新发心力衰竭 (HF) 患儿的诊断时间,并评估其后果和决定因素。 方法: 2007 年至 2016 年在法国三级医疗中心进行了一项基于人群的回顾性观察性研究。我们纳入了所有 16 岁以下无已知心脏疾病的儿童,并经超声心动图证实为 HF。使用 logistic 回归分析结局和决定因素的 Cox 比例风险模型,按 HF 病因进行分层分析: 先天性心脏病 (CHD) 和心肌病/心肌炎 (CM)。 结果: 共纳入 117 例儿童 (中位年龄 [四分位距 (IQR)] 25 天 (6-146),50.4% 为男性,60 例为 CHD,57 例为 CM)。总体中位 (IQR) 诊断时间为 3.3 天 (1.0-21.2)。1 年死亡率为 17%,1 年神经运动后遗症为 18%。所有儿童 1 年死亡与低出生体重相关 (校正比值比 0.24,95% 置信区间 [CI] 0.08-0.68) 和诊断时间低于中位数与 CM (0.09,0.01-0.87)。诊断时间短与所有患者症状第一天的临床严重程度相关 (校正风险比 3.39,95% CI 2.01-5.72),并且年轻时 CM (0.09, 0.02-0.41)。 结论: 在本地区新发 HF 患儿中,诊断的中位时间较短。诊断时间长与预后不良无关。

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DOI:10.1097/NNR.0000000000000415
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影响因子:2.3490
发表时间:2020-01-21
DOI:10.3389/fped.2019.00567
作者列表:["Camilla Sandrini","Claudio Lombardi","Andrew I. U. Shearn","Maria Victoria Ordonez","Massimo Caputo","Francesca Presti","Giovanni Battista Luciani","Lucia Rossetti","Giovanni Biglino","Giovanni Biglino"]

METHODS:This article presents a case series of n = 21 models of fetal cardiovascular anatomies obtained from post mortem microfocus computed tomography (micro-CT) data. The case series includes a broad range of diagnoses (e.g., tetralogy of Fallot, hypoplastic left heart syndrome, dextrocardia, double outlet right ventricle, atrio-ventricular septal defect) and cases also had a range of associated extra-cardiac malformations (e.g., VACTERL syndrome, central nervous system anomalies, renal anomalies). All cases were successfully reconstructed from the microfocus computed tomography data, demonstrating the feasibility of the technique and of the protocols, including in-house printing with a desktop 3D printer (Form2, Formlabs). All models were printed in 1:1 scale as well as with the 5-fold magnification, to provide insight into the intra-cardiac structures. Possible uses of the models include education and training.

影响因子:8.02
发表时间:2020-01-19
来源期刊:Genome Medicine
DOI:10.1186/s13073-019-0709-8
作者列表:["Cigdem Sevim Bayrak","Peng Zhang","Martin Tristani-Firouzi","Bruce D. Gelb","Yuval Itan"]

METHODS:Abstract Background Congenital heart disease (CHD) affects ~ 1% of live births and is the most common birth defect. Although the genetic contribution to the CHD has been long suspected, it has only been well established recently. De novo variants are estimated to contribute to approximately 8% of sporadic CHD. Methods CHD is genetically heterogeneous, making pathway enrichment analysis an effective approach to explore and statistically validate CHD-associated genes. In this study, we performed novel gene and pathway enrichment analyses of high-impact de novo variants in the recently published whole-exome sequencing (WES) data generated from a cohort of CHD 2645 parent-offspring trios to identify new CHD-causing candidate genes and mutations. We performed rigorous variant- and gene-level filtrations to identify potentially damaging variants, followed by enrichment analyses and gene prioritization. Results Our analyses revealed 23 novel genes that are likely to cause CHD, including HSP90AA1, ROCK2, IQGAP1, and CHD4, and sharing biological functions, pathways, molecular interactions, and properties with known CHD-causing genes. Conclusions Ultimately, these findings suggest novel genes that are likely to be contributing to CHD pathogenesis.

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