在贝德堡-豪精神病 LVR 诊所的 MZEB(残疾成人医疗中心)实施人类遗传咨询。

IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI:10.1515/medgen-2024-2026
Dorothee Maliszewski-Makowka, Dagmar Wieczorek
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引用次数: 0

摘要

2015 年,根据一项新法律(《德国刑法典》第五章第 119c 条)建立了 "成人残疾人医疗中心"(MZEB),从而大大改善了智障和发育障碍成人患者的门诊诊断。由于这些 MZEB 的多专业性质,可以与各种专业中心开展合作。因此,在 2023 年,贝德堡-豪(Bedburg-Hau)LVR-Clinic 的 MZEB 与杜塞尔多夫海因里希-海涅大学(HHU)的人类遗传学研究所开始了合作。在贝德堡-豪(Bedburg-Hau)为成年患者设立了跨学科咨询时间,提供遗传咨询和检测,以确定潜在的遗传实体。我们将介绍这一新结构并报告初步结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau.

Outpatient diagnostics for adult patients with intellectual disabilities and developmental disorders were significantly improved when 'Medical Centers for Adults with Disabilities' (MZEB) were established in 2015 in accordance with a new law (§ 119c SGB V). Due to the multi-professional nature of these MZEBs, cooperation with various specialized centers can be initiated. Accordingly, in 2023, a cooperation between the MZEB in the LVR-Clinic Bedburg-Hau and the Institute of Human Genetics, Heinrich-Heine University (HHU) Düsseldorf was initiated. Interdisciplinary consultation hours for adult patients have been established in Bedburg-Hau offering genetic counselling and testing to identify the underlying genetic entity. We will introduce this new structure and report preliminary results.

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来源期刊
Medizinische Genetik
Medizinische Genetik GENETICS & HEREDITY-
自引率
9.10%
发文量
48
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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