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亨廷顿舞蹈症:预防医学被忽视的机遇

Huntington's chorea: neglected opportunities for preventive medicine.

作者信息

Martindale B, Yale R

出版信息

Lancet. 1983 Mar 19;1(8325):634-6. doi: 10.1016/s0140-6736(83)91803-2.

Abstract

All health professionals within a defined geographical area who had any knowledge of, or contact with, patients with Huntington's chorea or their relatives were contacted and interviewed. Genetic counselling was given no consideration at all by most of the professional workers. In no case did the neurologist making the diagnosis point out the implications for the patient's family to the appropriate general practitioners who, with one exception, remained in ignorance of the genetic risk. Serious opportunities for the prevention of Huntington's chorea are being neglected.

摘要

在一个特定地理区域内,所有了解亨廷顿舞蹈症患者或与他们及其亲属有过接触的健康专业人员都被联系并接受了访谈。大多数专业人员根本没有考虑过进行遗传咨询。在任何情况下,做出诊断的神经科医生都没有向合适的全科医生指出这对患者家庭的影响,除了一个例外,这些全科医生都对遗传风险一无所知。预防亨廷顿舞蹈症的重要机会正在被忽视。

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