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“将遗体捐赠给科学”:特纳综合征中关于尸检和器官捐献的讨论。

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

机构信息

Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Department of Biology, Whitehead Institute, Cambridge, Massachusetts.

出版信息

Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):36-42. doi: 10.1002/ajmg.c.31671. Epub 2019 Jan 11.

DOI:10.1002/ajmg.c.31671
PMID:30633443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6414237/
Abstract

At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by more frequent death investigations and autopsies. The presentation included an overview of autopsy methods, strategies for utilizing autopsy, and biobanking to address research questions about TS, and the role of palliative care in the context of autopsy. This review highlights strategies to promote autopsy and tissue donation, culminating with an action plan to increase autopsy rates in the TS community.

摘要

在第三届特纳资源网络研讨会上,一个工作组介绍了关于特纳综合征 (TS) 尸检重要性的合作讨论结果。只有通过更频繁的死亡调查和尸检,才能弥合对 TS 死因理解上的巨大差距。该报告包括对尸检方法、利用尸检的策略以及生物库的概述,以解决有关 TS 的研究问题,以及姑息治疗在尸检中的作用。本综述强调了促进尸检和组织捐赠的策略,最终制定了一项行动计划,以提高 TS 社区的尸检率。

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Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):36-42. doi: 10.1002/ajmg.c.31671. Epub 2019 Jan 11.
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The state of Turner syndrome science: Are we on the threshold of discovery?特纳综合征科学研究现状:我们是否即将有所发现?
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Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.特纳资源网络研讨会会议记录:医疗保健研究与医疗保健服务的交叉点
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本文引用的文献

1
Aortic dilatation and outcome in women with Turner syndrome.特纳综合征女性的主动脉扩张和结局。
Heart. 2019 May;105(9):693-700. doi: 10.1136/heartjnl-2018-313716. Epub 2018 Oct 27.
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Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.全外显子组分子尸检中变异解读的重要性:基于人群的病例系列研究。
Circulation. 2018 Jun 19;137(25):2705-2715. doi: 10.1161/CIRCULATIONAHA.117.031053.
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Effect of Postmortem Interval and Years in Storage on RNA Quality of Tissue at a Repository of the NIH NeuroBioBank.死后间隔时间和储存年限对美国国立卫生研究院神经生物样本库中组织RNA质量的影响。
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Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?年轻人猝死的分子尸检:数据汇总才是关键吗?
Front Cardiovasc Med. 2017 Nov 9;4:72. doi: 10.3389/fcvm.2017.00072. eCollection 2017.
5
Alternatives to Autopsy for Fetal and Early Neonatal (Perinatal) Deaths: Insights from the Wisconsin Stillbirth Service Program.胎儿和新生儿(围产儿)死亡尸检替代方法:来自威斯康星州死胎服务项目的见解。
Birth Defects Res. 2017 Nov 1;109(18):1430-1441. doi: 10.1002/bdr2.1112. Epub 2017 Sep 12.
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The Human "Cochlear Battery" - Claudin-11 Barrier and Ion Transport Proteins in the Lateral Wall of the Cochlea.人类的“耳蜗电池”——耳蜗外侧壁中的Claudin-11屏障与离子转运蛋白
Front Mol Neurosci. 2017 Aug 10;10:239. doi: 10.3389/fnmol.2017.00239. eCollection 2017.
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Molecular autopsy in maternal-fetal medicine.母胎医学中的分子尸检。
Genet Med. 2018 Apr;20(4):420-427. doi: 10.1038/gim.2017.111. Epub 2017 Jul 20.
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Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.对存在超声异常的死胎进行全外显子组测序:在胎儿发育过程中扩展我们对遗传疾病的认识。
Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
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Human induced pluripotent stem cells for modelling neurodevelopmental disorders.人类诱导多能干细胞在神经发育障碍建模中的应用。
Nat Rev Neurol. 2017 May;13(5):265-278. doi: 10.1038/nrneurol.2017.45. Epub 2017 Apr 18.
10
Down syndrome: age-dependence of PiB binding in postmortem frontal cortex across the lifespan.唐氏综合征:全生命周期尸检额叶皮质中匹兹堡化合物B(PiB)结合的年龄依赖性。
Neurobiol Aging. 2017 Jun;54:163-169. doi: 10.1016/j.neurobiolaging.2017.03.005. Epub 2017 Mar 14.