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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.

DOI:10.14341/probl12869
PMID:35488763
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9112980/
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。

相似文献

1
[Telomere pathology in ontogenesis in patients with Turner syndrome].[特纳综合征患者个体发育中的端粒病理学]
Probl Endokrinol (Mosk). 2022 Feb 17;68(2):128-132. doi: 10.14341/probl12869.
2
Cardiovascular malformations and complications in Turner syndrome.特纳综合征的心血管畸形与并发症
Pediatrics. 1998 Jan;101(1):E11. doi: 10.1542/peds.101.1.e11.
3
[Cardiovascular malformations in Turner syndrome].[特纳综合征中的心血管畸形]
Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2005;11(4):211-4.
4
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.特纳综合征中的微囊型淋巴管畸形是由于 PIK3CA 的体细突变。
Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13.
5
Evidence of a normal mean telomere fragment length in patients with Ullrich-Turner syndrome.
Eur J Hum Genet. 2001 Nov;9(11):877-9. doi: 10.1038/sj.ejhg.5200722.
6
Cardiac anomalies in Turner Syndrome.
Asian Cardiovasc Thorac Ann. 2003 Dec;11(4):349-51. doi: 10.1177/021849230301100418.
7
Nongonadal neoplasia in patients with Turner syndrome.特纳综合征患者的非性腺肿瘤形成
J Environ Pathol Toxicol Oncol. 1999;18(4):339-47.
8
[Hypertrophic obstructive cardiomyopathy in a patient with Turner syndrome].
Cardiologia. 1995 Dec;40(12):947-9.
9
Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international turner syndrome aortic dissection registry.中度主动脉扩张和二叶式主动脉瓣与 Turner 综合征患者的主动脉夹层相关:国际 Turner 综合征主动脉夹层登记研究报告。
Circulation. 2012 Oct 30;126(18):2220-6. doi: 10.1161/CIRCULATIONAHA.111.088633. Epub 2012 Oct 2.
10
Turner syndrome and the heart: cardiovascular complications and treatment strategies.特纳综合征与心脏:心血管并发症及治疗策略
Am J Cardiovasc Drugs. 2002;2(6):401-13. doi: 10.2165/00129784-200202060-00005.

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Genetic insights into the complexity of premature ovarian insufficiency.遗传视角下探讨卵巢早衰的复杂性。
Reprod Biol Endocrinol. 2024 Aug 2;22(1):94. doi: 10.1186/s12958-024-01254-2.

本文引用的文献

1
Association of leukocyte telomere length with metabolic syndrome in type 2 diabetes mellitus.2型糖尿病患者白细胞端粒长度与代谢综合征的关联
J Res Med Sci. 2021 Jul 31;26:43. doi: 10.4103/jrms.JRMS_793_20. eCollection 2021.
2
Association of telomere length and telomerase methylation with n-3 fatty acids in preschool children with obesity.学龄前肥胖儿童端粒长度和端粒酶甲基化与 n-3 脂肪酸的关联。
BMC Pediatr. 2021 Jan 7;21(1):24. doi: 10.1186/s12887-020-02487-x.
3
Non-esterified fatty acids and telomere length in older adults: The Cardiovascular Health Study.老年人中的非酯化脂肪酸与端粒长度:心血管健康研究
Metabol Open. 2020 Sep 7;8:100058. doi: 10.1016/j.metop.2020.100058. eCollection 2020 Dec.
4
Role of telomere shortening in anticipation of inflammatory bowel disease.端粒缩短在炎症性肠病早发中的作用。
World J Gastrointest Pharmacol Ther. 2020 Sep 8;11(4):69-78. doi: 10.4292/wjgpt.v11.i4.69.
5
Telomere shortening associates with elevated insulin and nuchal fat accumulation.端粒缩短与胰岛素升高和颈后脂肪堆积有关。
Sci Rep. 2020 Apr 22;10(1):6863. doi: 10.1038/s41598-020-63916-6.
6
Cardiovascular surgery in Turner syndrome - early outcome and long-term follow-up.特纳综合征患者的心血管手术——早期结果与长期随访
World J Cardiol. 2020 Mar 26;12(3):97-106. doi: 10.4330/wjc.v12.i3.97.
7
Leukocyte Telomere Length Independently Predicts 3-Year Diabetes Risk in a Longitudinal Study of Chinese Population.白细胞端粒长度独立预测中国人群纵向研究中 3 年糖尿病风险。
Oxid Med Cell Longev. 2020 Mar 9;2020:9256107. doi: 10.1155/2020/9256107. eCollection 2020.
8
Obesity is associated with shorter telomeres in 8 year-old children.肥胖与 8 岁儿童端粒较短有关。
Sci Rep. 2019 Dec 10;9(1):18739. doi: 10.1038/s41598-019-55283-8.
9
A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome?一个假说:端粒长度和/或表观遗传改变是否会导致特纳综合征女性的不孕?
Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):108-116. doi: 10.1002/ajmg.c.31684. Epub 2019 Feb 11.
10
Telomere Biology and Human Phenotype.端粒生物学与人类表型。
Cells. 2019 Jan 19;8(1):73. doi: 10.3390/cells8010073.