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肌营养不良症相关风险因素的系统评价。

A systematic review of risk factors associated with muscular dystrophies.

机构信息

Faculty of Health Sciences, University of Ontario Institute of Technology, Canada.

Department of Pediatrics, McMaster University, Canada.

出版信息

Neurotoxicology. 2017 Jul;61:55-62. doi: 10.1016/j.neuro.2016.03.007. Epub 2016 Mar 24.

Abstract

The purpose of this study was to systematically review, assess, and prioritize factors (including biological, socioeconomic, environmental, psychosocial, comorbid, and genetic) for the onset and natural progression of Muscular Dystrophy. Comprehensive review of current literature of these factors was carried out in order to provide a basis for policy makers to identify appropriate measures to mitigate the burden of disease in Canada. A three-stage approach to searching for relevant studies was conducted in multiple databases. Using variations of MeSH terms and keywords, Systematic reviews or meta-analyses published in English or French that meet the inclusion criteria were first identified, then searched for relevant observational studies. Two independent reviewers screened abstracts, then qualifying articles, conducted quality assessment, and finally extracted relevant data using the application, DistillerSR. No existing systematic reviews, meta-analyses, or non-genetic observational studies were identified that met the inclusion criteria. A number of existing systematic reviews and observational studies focused on pharmacological or therapeutic interventions, which was beyond the scope of this study. Four genetic observational studies were identified that focused on aspects of disease progression of Duchenne and Becker Muscular Dystrophy. While this systematic review found that certain genetic polymorphisms and mutations may be a factor for Duchenne or Becker Muscular Dystrophy disease progression, further investigation into other genetic factors and environmental factors is still warranted. Much of the current literature focuses on these Muscular Dystrophies, however, other types of Muscular Dystrophy and their associated risk factors have yet to be extensively studied.

摘要

本研究旨在系统地回顾、评估和优先考虑肌营养不良症发病和自然进程的因素(包括生物学、社会经济、环境、心理社会、合并症和遗传因素)。对这些因素的现有文献进行了全面综述,为政策制定者提供了依据,以确定减轻加拿大疾病负担的适当措施。在多个数据库中采用了三阶段方法搜索相关研究。使用 MeSH 术语和关键词的变体,首先确定符合纳入标准的英文或法文发表的系统评价或荟萃分析,然后搜索相关观察性研究。两名独立审查员筛选摘要,然后对合格文章进行质量评估,最后使用应用程序 DistillerSR 提取相关数据。未发现符合纳入标准的现有系统评价、荟萃分析或非遗传观察性研究。有一些现有的系统评价和观察性研究侧重于药物治疗或治疗干预,这超出了本研究的范围。确定了四项针对杜兴氏和贝克型肌营养不良症疾病进展方面的遗传观察性研究。虽然这项系统评价发现某些遗传多态性和突变可能是杜兴氏或贝克型肌营养不良症疾病进展的一个因素,但仍需要进一步研究其他遗传因素和环境因素。目前的大部分文献都集中在这些肌营养不良症上,然而,其他类型的肌营养不良症及其相关的危险因素尚未得到广泛研究。

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