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本文引用的文献

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Characterisation of RT-QuIC negative cases from the UK National CJD Research and Surveillance programme.英国国家克雅氏病研究和监测计划中 RT-QuIC 阴性病例的特征。
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Enhanced Creutzfeldt-Jakob disease surveillance in the older population: Assessment of a protocol for screening brain tissue donations for prion disease.加强老年人克雅氏病监测:评估筛查朊病毒病脑组织供体的方案。
Brain Pathol. 2024 Mar;34(2):e13214. doi: 10.1111/bpa.13214. Epub 2023 Sep 28.
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Alzheimer's disease diagnostic accuracy by fluid and neuroimaging ATN framework.基于液质和神经影像学阿尔茨海默病诊断准确性框架
CNS Neurosci Ther. 2024 Feb;30(2):e14357. doi: 10.1111/cns.14357. Epub 2023 Jul 12.
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Performance of a condensed protocol to assess limbic-predominant age-related TDP-43 encephalopathy neuropathologic change.评估以边缘系统为主的与年龄相关的 TDP-43 脑病神经病理改变的简化方案的性能。
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Improved Real-Time Quaking Induced Conversion for Early Diagnostics of Creutzfeldt-Jakob Disease in Denmark.丹麦改良实时震动诱导转化技术用于克雅氏病的早期诊断。
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Application of real-time quaking-induced conversion in Creutzfeldt-Jakob disease surveillance.实时震动转换技术在克雅氏病监测中的应用。
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LATE-NC staging in routine neuropathologic diagnosis: an update.常规神经病理诊断中的晚期神经节细胞(stage)分期:更新。
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What every neuropathologist needs to know: condensed protocol work-up for clinical dementia syndromes.每位神经病理学家都需要了解的内容:用于临床痴呆综合征的简化协议工作流程。
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When is a postmortem examination carried out? A retrospective analysis of all Swedish deaths 1999-2018.何时进行尸检?对 1999 年至 2018 年所有瑞典死亡病例的回顾性分析。
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神经退行性疾病的快速神经病理学筛查

Fast-track neuropathological screening for neurodegenerative diseases.

作者信息

Englert Benjamin, Roeber Sigrun, Arzberger Thomas, Ruf Viktoria, Windl Otto, Herms Jochen

机构信息

Center for Neuropathology and Prion Research, Faculty of Medicine, LMU Munich, Munich, Germany.

German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

出版信息

Free Neuropathol. 2024 Aug 6;5:16. doi: 10.17879/freeneuropathology-2024-5643. eCollection 2024 Jan.

DOI:10.17879/freeneuropathology-2024-5643
PMID:39118598
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11309573/
Abstract

The diagnostic of individuals having suffered presumptive neurodegenerative disease comprises exclusion of a prion disease, extensive brain sampling and histopathological evaluation, which are resource-intensive and time consuming. To exclude prion disease and to achieve prompt accurate preliminary diagnosis, we developed a fast-track procedure for the histopathological assessment of brains from patients with suspected neurodegenerative disease. Based on the screening of two brain regions (frontal cortex and cerebellum) with H&E and six immunohistochemical stainings in 133 brain donors, a main histopathological diagnosis was established and compared to the final diagnosis made after a full histopathological work-up according to our brain bank standard procedure. In over 96 % of cases there was a concordance between the fast-track and the final main neuropathological diagnosis. A prion disease was identified in four cases without prior clinical suspicion of a prion infection. The fast-track screening approach relying on two defined, easily accessible brain regions is sufficient to obtain a reliable tentative main diagnosis in individuals with neurodegenerative disease and thus allows for a prompt feedback to the physicians. However, a more thorough histological work-up taking into account the clinical history and the working diagnosis from fast-track screening is necessary for accurate staging and for assessment of co-pathologies.

摘要

对疑似患有神经退行性疾病的个体进行诊断,包括排除朊病毒病、进行广泛的脑样本采集和组织病理学评估,这些都需要大量资源且耗时。为了排除朊病毒病并实现快速准确的初步诊断,我们开发了一种快速程序,用于对疑似神经退行性疾病患者的大脑进行组织病理学评估。基于对133名脑捐赠者的两个脑区(额叶皮质和小脑)进行苏木精-伊红染色(H&E)和六种免疫组织化学染色的筛查,确立了主要组织病理学诊断,并与根据我们脑库标准程序进行全面组织病理学检查后得出的最终诊断进行比较。在超过96%的病例中,快速程序诊断与最终主要神经病理学诊断一致。在四例之前临床未怀疑朊病毒感染的病例中确诊为朊病毒病。基于两个明确且易于获取的脑区的快速筛查方法足以在患有神经退行性疾病的个体中获得可靠的初步主要诊断,从而能够迅速向医生反馈。然而,为了进行准确分期和评估合并症,需要结合临床病史和快速筛查的初步诊断进行更全面的组织学检查。