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

Prakash, Siddharth K.; Roman, Adrianna K. San; Crenshaw, Melissa; Flink, Barbara; Earle, Kimberly; Los, Evan; Bonnard, Åsa; Lin, Angela E.

doi:10.1002/ajmg.c.31671

Cited by 5 publications

(4 citation statements)

References 29 publications

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“…In order to understand the mechanisms involved in aortic dissection, aortic histology is necessary. However, only few cases have been reported, so far [44]. Available histology showed a cystic necrosis in the aortic media, which has previously been described in other congenital aortopathies, such as Marfan syndrome [45].…”

Section: Mechanisms Of Cardiovascular Diseasementioning

confidence: 79%

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Heart and Turner syndrome

Donadille

Christin-Maître

2021

Annales d'Endocrinologie

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Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic valves and aortic coarctation are frequent, affecting 20-30% and 7-18% of the TS population, respectively. The morbidity and mortality of these patients are high and related to the presence of hypertension and/or aortic dilatation (40%), inducing aortic dissection. European guidelines published in 2017 have indicated how to monitor patients using magnetic resonance imaging (MRI) and/or echography. Different studies have shown that a cardiovascular lifelong follow-up is necessary and therefore education of patients with TS and their families represents a major issue. This review will present recent data concerning the progression of aortic diameters as well as current molecular knowledge of the cardiovascular system in patients with TS.

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Section: Mechanisms Of Cardiovascular Diseasementioning

confidence: 79%

“…High TGFβ activity increases fibrosis and inflammation, and induces the release of metalloproteases and may eventually lead to AD and dissection. Therefore, autopsy should be promoted in TS to decipher mortality biomarkers [44].…”

Section: Mechanisms Of Cardiovascular Diseasementioning

confidence: 99%

Heart and Turner syndrome

Donadille

Christin-Maître

2021

Annales d'Endocrinologie

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“…Some older women with Turner syndrome (or their families) who have a vulnerable cardiovascular system, or who are simply forward‐thinking, may want to discuss their end of life. This can be approached in a positive, sensitive manner, which focuses on the person's autonomy in how they want to live socially, financially, and medically (Prakash, San Roman, et al, ). This recent article responded to women with Turner syndrome who had voiced questions at national meetings, and expressed a wish to contribute to science by donating their body for autopsy and research.…”

Section: Transitioning For the Oldest Adultsmentioning

confidence: 99%

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Lin

Prakash

Andersen

et al. 2019

American J of Med Genetics Pt A

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Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome

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“…The ability to ascertain and interpret distinct transcriptional patterns are important determinations that are useful in a variety of areas. Studies have been conducted on organ transplantation [13][14][15][16][17] , organs-on-chips for drug discovery 15,16 , regenerative medicine (e.g., liver regeneration) 13,17 , and a plethora of rapidly evolving areas of crime scene investigations (e.g. traumatic injury) 18 .…”

Section: Thanatotranscriptome Studies Involve the Examination Of Mrnamentioning

confidence: 99%

Identification of cadaveric liver tissues using thanatotranscriptome biomarkers

Javan

Hanson

Finley

et al. 2020

Sci Rep

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Thanatotranscriptome studies involve the examination of mRNA transcript abundance and gene expression patterns in the internal organs of deceased humans. Postmortem gene expression is indicative of the cellular status of a corpse at the time of death, a portion of which may represent a cascade of molecular events occasioned by death. Specific gene biomarkers identify perceptible transcriptional changes induced by stochastic responses to the cessation of biological functions. Transcriptome analyses of postmortem mRNA from a tissue fragment may determine unique molecular identifiers for specific organs and demonstrate unique patterns of gene expression that can provide essential contextual anatomical information. We evaluated the impact of targeted transcriptome analysis using RNA sequencing to reveal global changes in postmortem gene expression in liver tissues from 27 Italian and United States corpses: 3.5-hour-old to 37-day-old. We found that our single blind study using eight liver tissue-specific gene biomarkers (e.g. AMBP and AHSG) is highly specific, with autopsy-derived organ samples correctly identified as tissues originating from postmortem livers. The results demonstrate that 98–100% of sequencing reads were mapped to these liver biomarkers. Our findings indicate that gene expression signatures of mRNA exposed up to 37 days of autolysis, can be used to validate the putative identity of tissue fragments.

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

Cited by 5 publications

References 29 publications

Heart and Turner syndrome

Heart and Turner syndrome

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Identification of cadaveric liver tissues using thanatotranscriptome biomarkers

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