Literature DB >> 30633443

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

Siddharth K Prakash1, Adrianna K San Roman2, Melissa Crenshaw3, Barbara Flink4, Kimberly Earle5,6, Evan Los7, Åsa Bonnard8, Angela E Lin9.   

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.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  Turner syndrome; autopsy; molecular autopsy; palliative care; postmortem examination; sex chromosome abnormality syndrome

Mesh:

Year:  2019        PMID: 30633443      PMCID: PMC6414237          DOI: 10.1002/ajmg.c.31671

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  28 in total

1.  Characterization of hearing in an X,0 'Turner mouse'.

Authors:  M Hultcrantz; A E Stenberg; A Fransson; B Canlon
Journal:  Hear Res       Date:  2000-05       Impact factor: 3.208

2.  Molecular autopsy vs postmortem genetic testing.

Authors:  William D Edwards
Journal:  Mayo Clin Proc       Date:  2005-09       Impact factor: 7.616

3.  Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Authors:  Carin L Yates; Kristin G Monaghan; Deborah Copenheaver; Kyle Retterer; Julie Scuffins; Cathlin R Kucera; Bethany Friedman; Gabriele Richard; Jane Juusola
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

Review 4.  Non-invasive or minimally invasive autopsy compared to conventional autopsy of suspected natural deaths in adults: a systematic review.

Authors:  Britt M Blokker; Ivo M Wagensveld; Annick C Weustink; J Wolter Oosterhuis; M G Myriam Hunink
Journal:  Eur Radiol       Date:  2015-07-27       Impact factor: 5.315

5.  Minimally Invasive Autopsy: A New Paradigm for Understanding Global Health?

Authors:  Peter Byass
Journal:  PLoS Med       Date:  2016-11-22       Impact factor: 11.069

6.  The Human "Cochlear Battery" - Claudin-11 Barrier and Ion Transport Proteins in the Lateral Wall of the Cochlea.

Authors:  Wei Liu; Annelies Schrott-Fischer; Rudolf Glueckert; Heval Benav; Helge Rask-Andersen
Journal:  Front Mol Neurosci       Date:  2017-08-10       Impact factor: 5.639

7.  Factors affecting uptake of postmortem examination in the prenatal, perinatal and paediatric setting.

Authors:  C Lewis; M Hill; O J Arthurs; C Hutchinson; L S Chitty; N J Sebire
Journal:  BJOG       Date:  2017-03-21       Impact factor: 6.531

8.  Effect of Postmortem Interval and Years in Storage on RNA Quality of Tissue at a Repository of the NIH NeuroBioBank.

Authors:  Kimberly White; Peixin Yang; Ling Li; Amna Farshori; Alexandre E Medina; Horst Ronald Zielke
Journal:  Biopreserv Biobank       Date:  2018-03-02       Impact factor: 2.300

9.  Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

Authors:  Christian Trolle; Kristian H Mortensen; Lisbeth N Pedersen; Agnethe Berglund; Henrik K Jensen; Niels H Andersen; Claus H Gravholt
Journal:  PLoS One       Date:  2013-07-25       Impact factor: 3.240

10.  Widespread DNA hypomethylation and differential gene expression in Turner syndrome.

Authors:  Christian Trolle; Morten Muhlig Nielsen; Anne Skakkebæk; Philippe Lamy; Søren Vang; Jakob Hedegaard; Iver Nordentoft; Torben Falck Ørntoft; Jakob Skou Pedersen; Claus Højbjerg Gravholt
Journal:  Sci Rep       Date:  2016-09-30       Impact factor: 4.379

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