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[特纳综合征患者个体发育中的端粒病理学]

[Telomere pathology in ontogenesis in patients with Turner syndrome].

作者信息

Mikheev R K, Grigoryan O R, Pankratova M S, Andreeva E N, Sheremetyeva E V, Absatarova Yu S, Mokrysheva N G

机构信息

Endocrinology research centre.

Endocrinology research centre; A.I. Yevdokimov Moscow State University of Medicine and Dentistry.

出版信息

Probl Endokrinol (Mosk). 2022 Feb 17;68(2):128-132. doi: 10.14341/probl12869.

Abstract

According to present medical databases there many trials to provide in vivo researches in vivo to confirm/refute shortening process of telomeres among patients with Turner syndrome. Despite the successful clinical experience of providing such patients with Turner syndrome, a lot of omics (proteomic and metabolomic) aspects still stay unclear. Main disadvantages of most researches are small volume and minimized mathematical correlation with chronic disease (coronary heart disease, essential hypertension, cardiovascular malformations). Finally, organization of international prospective multi-centered researches in vivo including patients with mosaic cariotype and co-operation between physicians and biologists are optimal solutions for this present problem.

摘要

根据现有医学数据库,有许多试验在体内进行研究,以证实/反驳特纳综合征患者端粒缩短的过程。尽管为特纳综合征患者提供治疗有成功的临床经验,但许多组学(蛋白质组学和代谢组学)方面仍不清楚。大多数研究的主要缺点是样本量小,与慢性病(冠心病、原发性高血压、心血管畸形)的数学相关性最小。最后,组织包括嵌合型染色体患者在内的国际前瞻性多中心体内研究,以及医生和生物学家之间的合作,是解决当前这一问题的最佳方案。

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