[在法医意见中使用临床分子和基因测试]。

Rafał Skowronek
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引用次数: 0

摘要

现代分子生物学和临床遗传学有能力诊断许多疾病,这些疾病的存在与否在法医意见的各个领域都很重要。该研究的目的是提出在法医学中可能的非标准应用临床分子基因测试的例子。在卡托维兹法医司迄今编写的所有意见中,选出了三份意见,其中两份涉及与死因有关的尸检后结论,还有一份意见是根据与怀疑一名婴儿患有受虐待儿童综合症有关的案件档案提出的意见。在所有这些案件中,分子和基因检测的结果都是阴性的,专家们在制定意见的最后结论时考虑到了这一点。在法医中使用临床分子和基因测试是可能的,并且总是带来重要的额外信息,从而扩大了发表意见的可能性并促进了诊断。这类研究可能特别有用的领域是:血栓栓塞并发症的基础诊断,肿瘤的现代综合形态学和分子诊断,以及怀疑患有虐待儿童综合症的儿童结缔组织遗传缺陷的诊断。
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[The use of clinical molecular and genetic tests in forensic medical opinions].

Modern molecular biology and clinical genetics have the ability to diagnose many diseases, the presence or absence of which is important in various areas of forensic medical opinion. The aim of the study is to present examples of possible non-standard application of clinical molecular-genetic tests in forensic medicine. From among all the opinions prepared so far at the Department of Forensic Medicine in Katowice, three were selected two of which concerned post-autopsy conclusions relating to the cause of death, and in one case - opinion based on the files of a case related to the suspicion of a maltreated child syndrome in an infant. In all these cases, the results of the molecular and genetic tests were negative, which was taken into account by the experts when formulating the final conclusions of the opinion. The use of clinical molecular and genetic tests in forensic medicine is possible and always brings important additional information that broadens the possibilities of opinion-making and facilitates diagnosis. The areas in which this type of research may be particularly useful are: diagnostics of the basis of thromboembolic complications, modern integrated morphological and molecular diagnostics of neoplasms and diagnostics of genetic defects of connective tissue in children suspected of having abused child syndrome.

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来源期刊
CiteScore
0.60
自引率
0.00%
发文量
12
审稿时长
12 weeks
期刊介绍: Archiwum Medycyny Sądowej i Kryminologii przyjmuje w języku polskim: prace doświadczalne, poglądowe, kazuistyczne, artykuły o charakterze szkoleniowym z medycyny sądowej, kryminologii i dziedzin pokrewnych, opracowania z zakresu etyki i deontologii lekarskiej, streszczenia prac obcych, oceny książek, sprawozdania z działalności PTMSiK, sprawozdania ze zjazdów krajowych i zagranicznych, komunikaty Zarządu Głównego PTMSiK, listy do Redakcji. Autor powinien podać, do jakiej kategorii zalicza tekst nadesłanej pracy. Przyjmowane do druku będą również prace autorów zagranicznych w języku angielskim.
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