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A qualitative approach to rare genetic diseases: an integrative review of the national and international literature

机译:稀有遗传疾病的定性方法:对国家和国际文学的一体化综述

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摘要

There are currently between six and eight thousand illnesses classified as rare diseases, 80% of which are of genetic origin and among the studies those of a quantitative and biomedical nature stand out. The objective of this study was to identify and describe the characteristics of scientific studies in Brazil and worldwide using a qualitative approach on rare genetic diseases published in indexed databases in the area of health and social sciences. The Scielo, Lilacs, Medline, PubMed, BDENF, Web of Science, Scopus and CINAHL databases were researched between 2013-2018 using the key words “Qualitative Research” and “Rare Disease.” A total of 171 articles, classified by year, country, language, rare disease type, data collection strategy, knowledge area and theme were selected. The texts reveal the relevance of qualitative studies on rare genetic diseases in their ability to support organization, decision-making and health training in a way that responds to the social and individual needs of the community. It is important, however, to conduct further studies, especially within Brazil, that address rare genetic conditions, revealing the experiences and how they affect the personal, family, professional and organizational interactions in terms of the proper and effective modes of care.
机译:目前六至八千的疾病归类为罕见疾病,其中80%是遗传来源,以及定量和生物医学本质的研究中的研究。本研究的目的是识别和描述巴西科学研究的特征,并在卫生和社会科学领域发表的稀有遗传疾病对稀有遗传疾病的定性方法。 2013-2018之间使用关键词“定性研究”和“罕见疾病”之间研究了Scielo,Lilacs,Medline,Pubmed,Bdenf,科学,Scopus和Cinahl数据库。选择了171篇文章,按年,国家,语言,罕见疾病类型,数据收集策略,知识区域和主题进行了分类。文本揭示了质量研究对稀有遗传疾病的能力,以应对社区社会和个人需求的方式支持组织,决策和健康培训。然而,重要的是进行进一步的研究,特别是在巴西,涉及稀有的遗传条件,揭示经验以及如何影响个人,家庭,专业和组织互动的适当和有效的护理方式。

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