尸检阴性心源性猝死的组织形态学和遗传学诊断前景

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本文介绍了在尸检未发现明显病理变化的情况下，对心源性猝死进行组织学和遗传学诊断的前景。

近年来，尸检阴性病例，包括心源性猝死的数量有所增加，这为开发更精确的死亡原因诊断方法和未来类似情况的预防提供了可能性。本文探讨了现代心脏组织学研究方法以及分子遗传学测试的应用，这些方法在识别导致心源性猝死的亚临床状态中可能具有重要作用。

目前，分子遗传学方法在心源性猝死研究中的应用仍处于初步阶段，在俄罗斯关于类似死亡病例分子遗传学原因的大规模研究仍然不足，这凸显了医学遗传学、病理解剖学和法医学交叉领域发展的潜力。

本文简要回顾了心源性猝死病例的组织学和遗传学诊断研究成果，提出了将这些方法整合到诊断过程中的方法，以便在病理解剖和法医学实践中高效应用。作者强调了进一步研究的必要性，包括采用最新的组织学和遗传学分析技术，以及通过大数据分析发现新的心源性猝死病理机制。

医学遗传学咨询可用于评估心源性猝死的遗传易感性，从而识别高危人群并降低死亡率。在未来，可能会发现心源性猝死的遗传预测因子与心肌收缩蛋白表达缺陷之间的联系，并通过免疫组织化学分析进一步确认这些缺陷。

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作者简介

Boris N. Kulbitskiy

Petrovsky National Research Centre of Surgery

Email: kulbitskiybn@rambler.ru
ORCID iD: 0000-0001-7791-3041
SPIN 代码: 7785-0838

MD, Cand. Sci. (Medicine)

俄罗斯联邦, Moscow

Olga A. Vladykina

North-Western State Medical University named after I.I. Mechnikov

Email: olavtryggvason@yandex.ru
ORCID iD: 0009-0001-4136-8691
俄罗斯联邦, Saint Petersburg

Dmitry V. Bogomolov

Petrovsky National Research Centre of Surgery

Email: usicc@yandex.ru
ORCID iD: 0000-0002-9111-8623
SPIN 代码: 2777-2674

MD, Dr. Sci. (Medicine)

俄罗斯联邦, Moscow

Anastasya I. Kadykova

Federal Research and Clinical Center of Sports Medicine and Rehabilitation

Email: KadykovaAI@sportfmba.ru
ORCID iD: 0000-0003-2996-6194
SPIN 代码: 8764-6577
俄罗斯联邦, Moscow

Roman V. Deev

Petrovsky National Research Centre of Surgery; Federal Research and Clinical Center of Sports Medicine and Rehabilitation

编辑信件的主要联系方式.
Email: romdey@gmail.com
ORCID iD: 0000-0001-8389-3841
SPIN 代码: 2957-1687

MD, Cand. Sci. (Medicine), Assistant Professor

俄罗斯联邦, Moscow; Moscow

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