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81.
Emmi Helle Aldo Córdova-Palomera Tiina Ojala Priyanka Saha Praneetha Potiny Stefan Gustafsson Erik Ingelsson Michael Bamshad Deborah Nickerson Jessica X. Chong University of Washington Center for Mendelian Genomics Euan Ashley James R. Priest 《Genetic epidemiology》2019,43(2):215-226
Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form of LVOTO, we discovered predicted loss of function NOTCH1 variants in 6% of individuals. Rare or low-frequency missense variants were found in 16% of families. To make a quantitative estimate of the genetic risk posed by variants in NOTCH1 for LVOTO, we studied associations of 400 coding and noncoding variants in NOTCH1 in 1,085 cases and 332,788 controls from the UK Biobank. Two rare intronic variants in strong linkage disequilibrium displayed significant association with risk for LVOTO amongst European-ancestry individuals. This result was replicated in an independent analysis of 210 cases and 68,762 controls of non-European and mixed ancestry. In conclusion, carrying rare predicted loss of function variants in NOTCH1 confer significant risk for LVOTO. In addition, the two intronic variants seem to be associated with an increased risk for these defects. Our approach demonstrates the utility of population-based data sets in quantifying the specific risk of individual variants for disease-related phenotypes. 相似文献
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83.
Alvaro Sepúlveda-Martínez Laura García-Otero Iris Soveral Laura Guirado Brenda Valenzuela-Alcaraz Ximena Torres 《The journal of maternal-fetal & neonatal medicine》2019,32(14):2319-2327
Objective: M-mode and 2D have been proposed for evaluating fetal myocardial thickness. However, studies comparing the performance of both modalities are lacking. We aimed to compare 2D versus M-mode reproducibility for assessing myocardial wall thicknesses.Methods: A prospective study including 45 healthy fetuses from low-risk pregnancies evaluated between 18 and 41 weeks of gestation. Left and right ventricular free-wall and septal myocardial thicknesses were measured at end-diastole (ED) and end-systole (ES) in transverse 4-chamber view using 2D and M-mode. Intra- and interobserver reproducibility was evaluated by the concordance correlation coefficient (CCC). Both techniques were compared by t-test of the CCC.Results: 2D and M-mode demonstrated excellent and similar intraobserver repeatability, with the best concordance in ES septal thickness (M-mode CCC 0.956 versus 2D-mode CCC 0.914). Interobserver reproducibility demonstrated also a high concordance, optimal in ES left ventricular free wall (M-mode 0.925 versus 2 D 0.855). Comparison of both techniques demonstrated a high concordance in all measurements, except for ED septal thickness with better reproducibility using M-mode (CCC 0.954 versus 0.847, p?=?.017).Conclusions: 2D and M-mode can be used in a reproducible manner for measuring fetal myocardial thickness, with a slightly better performance of M-mode for assessing ED septal wall thickness. 相似文献
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85.
We describe a case of undiagnosed heart block which was detected during the postpartum surgical repair of a vaginal tear, and the subsequent investigations that confirmed diagnosis of atrio-ventricular heart block. 相似文献
86.
中药(单体/复方)药效物质基础研究是中医药现代研究的关键问题之一。然而,目前运用的生化和分子生物学方法很难诠释其多靶点、整体性和动态性的整合调节作用。课题组提出的"证治代谢组学"假说理论指出,不同的证候存在"证相关代谢谱群"和"证相关生物标志物",这可能是中药药效物质基础所在,辨证论治后偏离的代谢网络功能呈现回归趋势。基于"证治代谢组学"假说开展中药(单体/复方)药效物质基础研究,这将为阐释中药(单体/复方)防病治病和养生保健的科学内涵及其对疾病个体的整合调节作用提供新的思路。本文以冠心病为研究载体、气阴虚血瘀证为切入点、活血保心丸为干预措施,就该研究思路的内涵与总体模式、提出的背景与依据、实践的方式与可行性、创新与特色及其研究意义等进行了简要介绍。 相似文献
87.
Leonardo Jönck Staub Roberta Rodolfo Mazzali Biscaro Erikson Kaszubowski Rosemeri Maurici 《The Journal of emergency medicine》2019,56(1):53-69
Background
Lung ultrasound can accelerate the diagnosis of life-threatening diseases in adults with respiratory symptoms.Objective
Systematically review the accuracy of lung ultrasonography (LUS) for emergency diagnosis of pneumonia, acute heart failure, and exacerbation of chronic obstructive pulmonary disease (COPD)/asthma in adults.Methods
PubMed, Embase, Scopus, Web of Science, and LILACS (Literatura Latino Americana e do Caribe em Ciências da Saúde; until 2016) were searched for prospective diagnostic accuracy studies. Rutter-Gatsonis hierarchical summary receiver operating characteristic method was used to measure the overall accuracy of LUS and Reitsma bivariate model to measure the accuracy of the different sonographic signs. This review was previously registered in PROSPERO (Centre for Reviews and Dissemination, University of York, York, UK; CRD42016048085).Results
Twenty-five studies were included: 14 assessing pneumonia, 14 assessing acute heart failure, and four assessing exacerbations of COPD/asthma. The area under the summary receiver operating characteristic curve of LUS was 0.948 for pneumonia, 0.914 for acute heart failure, and 0.906 for exacerbations of COPD/asthma. In patients suspected to have pneumonia, consolidation had sensitivity of 0.82 (95% confidence interval [CI] 0.74–0.88) and specificity of 0.94 (95% CI 0.85–0.98) for this disease. In acutely dyspneic patients, modified diffuse interstitial syndrome had sensitivity of 0.90 (95% CI 0.87–0.93) and specificity of 0.93 (95% CI 0.91–0.95) for acute heart failure, whereas B-profile had sensitivity of 0.93 (95% CI 0.72–0.98) and specificity of 0.92 (95% CI 0.79–0.97) for this disease in patients with respiratory failure. In patients with acute dyspnea or respiratory failure, the A-profile without PLAPS (posterior-lateral alveolar pleural syndrome) had sensitivity of 0.78 (95% CI 0.67–0.86) and specificity of 0.94 (95% CI 0.89–0.97) for exacerbations of COPD/asthma.Conclusion
Lung ultrasound is an accurate tool for the emergency diagnosis of pneumonia, acute heart failure, and exacerbations of COPD/asthma. 相似文献88.
89.
Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate—Rapid Tumor Regression Documented by Real Time 3D Echocardiography 下载免费PDF全文
Robert Wagner M.D. Ph.D. Frank Thomas Riede M.D. Hiroshi Seki M.D. Frauke Hornemann M.D. Steffen Syrbe M.D. Ingo Daehnert M.D. Ph.D. Michael Weidenbach M.D. Ph.D. 《Echocardiography (Mount Kisco, N.Y.)》2015,32(12):1876-1879
The presented case reports on successful treatment with everolimus in a neonate with left ventricular giant rhabdomyoma. The authors used a different dosage regime compared to literature and documented rapid tumor regression by 3D echocardiography. 相似文献
90.
目的观察认知行为干预在冠心病患者护理中的应用效果。方法选取本院2016年12月~2018年2月期间收治的53例冠心病患者,根据住院号奇偶性情况将其随机分为观察组(n=27)和对照组(n=26),对照组予以常规护理,观察组予以认知行为干预。比较两组患者控制态度评分、心理状况评分、生活质量改善情况及依从性。结果观察组控制态度评分、心理状况评分、生活质量改善情况及依从性与对照组比较,差异有统计学意义(P0.05)。结论在冠心病患者护理中给予认知行为干预应用效果极佳,可作为临床干预首选措施。 相似文献