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亨廷顿舞蹈症:全科医生对个体风险状况的了解

Huntington's chorea: general practitioners' knowledge about individuals' at-risk status.

作者信息

Sørensen S A, Fenger K

机构信息

Institute of Medical Genetics, University of Copenhagen, Denmark.

出版信息

Scand J Prim Health Care. 1989 Mar;7(1):49-52. doi: 10.3109/02813438909103671.

Abstract

We assessed general practitioners' knowledge about the at-risk status of offspring of persons suffering from Huntington's chorea. Of 97 practitioners who were questioned about only one at-risk individual, 16 were aware of the person's at-risk status, while nine of 26 practitioners who were questioned about more than one at-risk person were aware of it. The results indicate that prophylactic action can be achieved more efficiently by registration of families in which Huntington's chorea occurs, followed by genetic counselling.

摘要

我们评估了全科医生对亨廷顿舞蹈症患者后代患病风险状况的了解情况。在接受询问的仅涉及一名有患病风险个体的97名医生中,16名知晓该个体的患病风险状况;而在接受询问的涉及不止一名有患病风险个体的26名医生中,只有9名知晓这一情况。结果表明,通过对出现亨廷顿舞蹈症的家庭进行登记,随后开展遗传咨询,能够更有效地采取预防措施。

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Effect of genetic counselling on the prevalence of Huntington's chorea.
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