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急诊医学中基因与基因检测的现状:一篇叙述性综述。

The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review.

作者信息

Aghamir Seyed Mohammad Kazem, Ebrahimi Mehdi, Khatami Fatemeh

机构信息

Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Department of Internal Medicine, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.

出版信息

Adv J Emerg Med. 2019 Aug 25;4(1):e10. doi: 10.22114/ajem.v0i0.216. eCollection 2020 Winter.

DOI:10.22114/ajem.v0i0.216
PMID:31938779
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6955026/
Abstract

CONTEXT

An emergency is any medical problem that could cause death or permanent injury if not treated quickly. In some occasions, the kind of urgent intervention depends on patient's exact genetic background. Unfortunately, the importance of genes in medical emergencies has been forgotten in recent decades.

EVIDENCE ACQUISITION

In order to find relevant articles, we searched two databases of Pubmed and Embase. The exact words of "genes", "genetics", "epigenetics", "DNA", and "emergency" were used alone and in combination. All studies like randomized clinical trials (RCT), case/controls, case series, case reports, and review articles were studied to find the related data. No time limitation was considered for the studies.

RESULTS

Several aspects of genetic testing are newly considered in emergency departments including cell-free DNA (cfDNA) for disease diagnosis, pharmacogenetics for decreasing the adverse drug effects, and personalized medicine for exact emergency interventions in diseases like Vascular Ehlers-Danlos syndrome (vEDS). Data from genetic testing and genome wide association studies have yielded promising results to make medical emergency interventions more beneficial in the near future.

CONCLUSION

Taking everything into consideration, several advanced genetic and epigenetic alteration technologies can change emergency medicine for the better. Personalized genetic data of patients can turn emergency medicine to personalized medicine.

摘要

背景

紧急情况是指任何若不迅速治疗就可能导致死亡或永久性损伤的医疗问题。在某些情况下,紧急干预的类型取决于患者确切的基因背景。不幸的是,近几十年来,基因在医疗紧急情况中的重要性已被遗忘。

证据获取

为了找到相关文章,我们检索了两个数据库,即PubMed和Embase。单独及组合使用了“基因”“遗传学”“表观遗传学”“DNA”和“紧急情况”等确切词汇。对所有研究,如随机临床试验(RCT)、病例对照研究、病例系列研究、病例报告和综述文章进行了研究以获取相关数据。研究未设定时间限制。

结果

急诊科新考虑了基因检测的几个方面,包括用于疾病诊断的游离DNA(cfDNA)、用于减少药物不良反应的药物遗传学,以及用于对诸如血管性埃勒斯-当洛综合征(vEDS)等疾病进行精确紧急干预的个性化医疗。基因检测和全基因组关联研究的数据已产生了有前景的结果,以使医疗紧急干预在不久的将来更具益处。

结论

综合考虑,几种先进的基因和表观遗传改变技术可使急诊医学变得更好。患者的个性化基因数据可将急诊医学转变为个性化医疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30f6/6955026/ec29e17d7986/AJEM-4-e10-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30f6/6955026/ec29e17d7986/AJEM-4-e10-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/30f6/6955026/ec29e17d7986/AJEM-4-e10-g001.jpg

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引用本文的文献

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A Letter on "The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review".一封关于《急诊医学中基因与基因检测的现状:叙述性综述》的信
Adv J Emerg Med. 2019 Dec 10;4(2):e17. doi: 10.22114/ajem.v0i0.316. eCollection 2020 Spring.

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Pharmacogenetic Tests in Reducing Accesses to Emergency Services and Days of Hospitalization in Bipolar Disorder: A 2-Year Mirror Analysis.药物遗传学检测对减少双相情感障碍患者急诊就诊次数和住院天数的影响:一项为期两年的对照分析
J Pers Med. 2019 Apr 30;9(2):22. doi: 10.3390/jpm9020022.
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Liquid Biopsy: Is There an Advantage to Analyzing Circulating Exosomal DNA Compared to cfDNA or Are They the Same?
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Cancer Res. 2019 May 15;79(10):2462-2465. doi: 10.1158/0008-5472.CAN-19-0019. Epub 2019 May 1.
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Plasma cell-free DNA and qSOFA score predict 7-day mortality in 481 emergency department bacteraemia patients.血浆无细胞 DNA 和 qSOFA 评分可预测 481 例急诊血培养阳性患者的 7 天死亡率。
J Intern Med. 2018 Oct;284(4):418-426. doi: 10.1111/joim.12766. Epub 2018 Jun 3.
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Validation of a Novel Assay to Distinguish Bacterial and Viral Infections.新型检测方法对细菌性和病毒性感染鉴别的验证。
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PLoS One. 2017 Feb 2;12(2):e0170905. doi: 10.1371/journal.pone.0170905. eCollection 2017.
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