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Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.21 三体脑类器官中的患者特异性阿尔茨海默病样病理学揭示 BACE2 作为人类大脑中 AD 基因剂量敏感抑制剂。
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生物标志物检测:拨开阿尔茨海默病及相关痴呆症的迷雾

Biomarker Testing: Piercing the Fog of Alzheimer's and Related Dementia.

作者信息

Horgan Denis, Nobili Flavio, Teunissen Charlotte, Grimmer Timo, Mitrecic Dinko, Ris Laurence, Pirtosek Zvezdan, Bernini Chiara, Federico Antonio, Blackburn Daniel, Logroscino Giancarlo, Scarmeas Nikos

机构信息

European Alliance for Personalised Medicine, Brussels, Belgium.

Department of Neuroscience (DINOGMI), University of Genoa, Genoa, Italy.

出版信息

Biomed Hub. 2020 Nov 23;5(3):19-40. doi: 10.1159/000511233. eCollection 2020 Sep-Dec.

DOI:10.1159/000511233
PMID:33564663
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7841748/
Abstract

Alzheimer's disease (AD) and related dementia is one of the growing threats to the sustainability of health and care systems in developed countries, and efforts to find therapies have had scant success. The main reasons for this are lack of efficient therapy, which is linked to too late discovery of the disease itself. With this in mind, biomarkers are recognised as an element which can bring a major contribution to research, helping elucidate the disease and the search for treatments. They are also playing an increasing role in early detection and timely diagnosis, which are considered the principal hopes of effective management in the absence of an effective drug. The current arsenal of biomarkers could already, if more widely deployed, provide an effective minimum service to patients and health systems. A concerted action by policy makers and stakeholders could drive progress in access to AD biomarker testing to provide an optimum service in the medium term. This paper discusses how to improve the use of and access to biomarker testing in the detection and diagnosis of AD and other diseases featuring dementia, and how EU healthcare systems could benefit. It outlines the challenges, lists the achievements to date, and highlights the actions needed to allow biomarker testing to deliver more fully on their potential in AD.

摘要

阿尔茨海默病(AD)及相关痴呆症是发达国家卫生与医疗系统可持续性面临的日益严重的威胁之一,而寻找治疗方法的努力成效甚微。主要原因在于缺乏有效的治疗手段,这与疾病本身发现过晚有关。有鉴于此,生物标志物被视为能够对研究做出重大贡献的要素,有助于阐明疾病及寻找治疗方法。它们在早期检测和及时诊断中也发挥着越来越重要的作用,而在缺乏有效药物的情况下,早期检测和及时诊断被视为有效管理的主要希望。如果能更广泛地应用,现有的生物标志物 arsenal 已经可以为患者和卫生系统提供有效的最低限度服务。政策制定者和利益相关者的协同行动可以推动在获取AD生物标志物检测方面取得进展,以便在中期提供最佳服务。本文讨论了如何在AD及其他以痴呆为特征的疾病的检测和诊断中改进生物标志物检测的使用和获取,以及欧盟医疗系统如何从中受益。它概述了挑战,列出了迄今取得的成就,并强调了使生物标志物检测能够更充分发挥其在AD中的潜力所需采取的行动。