Literature DB >> 25920614

Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.

Philippe F Backeljauw1, Carolyn Bondy2, Steven D Chernausek3, Joseph T Cernich4, David A Cole5, Laura P Fasciano6, Joan Foodim7, Scott Hawley8, David S Hong9, Rebecca C Knickmeyer10, Paul Kruszka11, Angela E Lin12, Barbara M Lippe13, Gary A Lorigan14, Cheryl L Maslen15, Nelly Mauras16, David C Page17, Victoria L Pemberton18, Siddharth K Prakash19, Charmian A Quigley20, Kelly C Ranallo21, Allan L Reiss22, David E Sandberg23, Cindy Scurlock24, Michael Silberbach15.   

Abstract

Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  Turner syndrome; chromosome; congenital heart disease; genetics; monosomy X; neurodevelopment; quality of life; sex chromosomes; women; women's health

Mesh:

Year:  2015        PMID: 25920614      PMCID: PMC4714605          DOI: 10.1002/ajmg.a.37121

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  16 in total

1.  Aberrant parietal cortex developmental trajectories in girls with Turner syndrome and related visual-spatial cognitive development: a preliminary study.

Authors:  Tamar Green; Lindsay C Chromik; Paul K Mazaika; Kyle Fierro; Mira M Raman; Laura C Lazzeroni; David S Hong; Allan L Reiss
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2014-07-11       Impact factor: 3.568

2.  X chromosome parental origin and aortic stiffness in turner syndrome.

Authors:  Khaled Z Abd-Elmoniem; Vladimir K Bakalov; Jatin R Matta; Nancy Muldoon; John A Hanover; Carolyn A Bondy; Ahmed M Gharib
Journal:  Clin Endocrinol (Oxf)       Date:  2014-06-17       Impact factor: 3.478

3.  Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

Authors:  Carolyn A Bondy
Journal:  J Clin Endocrinol Metab       Date:  2006-10-17       Impact factor: 5.958

Review 4.  Turner syndrome: the case of the missing sex chromosome.

Authors:  A R Zinn; D C Page; E M Fisher
Journal:  Trends Genet       Date:  1993-03       Impact factor: 11.639

5.  Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome.

Authors:  M Watanabe; A R Zinn; D C Page; T Nishimoto
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

6.  Metabolic effects of oral versus transdermal 17β-estradiol (E₂): a randomized clinical trial in girls with Turner syndrome.

Authors:  L Torres-Santiago; V Mericq; M Taboada; N Unanue; K O Klein; R Singh; J Hossain; R J Santen; J L Ross; N Mauras
Journal:  J Clin Endocrinol Metab       Date:  2013-05-15       Impact factor: 5.958

7.  Determinants of medical care for young women with Turner syndrome.

Authors:  Marie Devernay; Emmanuel Ecosse; Joël Coste; Jean-Claude Carel
Journal:  J Clin Endocrinol Metab       Date:  2009-05-26       Impact factor: 5.958

8.  Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.

Authors:  Daniel W Bellott; Jennifer F Hughes; Helen Skaletsky; Laura G Brown; Tatyana Pyntikova; Ting-Jan Cho; Natalia Koutseva; Sara Zaghlul; Tina Graves; Susie Rock; Colin Kremitzki; Robert S Fulton; Shannon Dugan; Yan Ding; Donna Morton; Ziad Khan; Lora Lewis; Christian Buhay; Qiaoyan Wang; Jennifer Watt; Michael Holder; Sandy Lee; Lynne Nazareth; Jessica Alföldi; Steve Rozen; Donna M Muzny; Wesley C Warren; Richard A Gibbs; Richard K Wilson; David C Page
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

9.  Mortality in women with turner syndrome in Great Britain: a national cohort study.

Authors:  Minouk J Schoemaker; Anthony J Swerdlow; Craig D Higgins; Alan F Wright; Patricia A Jacobs
Journal:  J Clin Endocrinol Metab       Date:  2008-09-23       Impact factor: 5.958

10.  Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research.

Authors:  Sarah E Daugherty; Sarita Wahba; Rachael Fleurence
Journal:  J Am Med Inform Assoc       Date:  2014-05-12       Impact factor: 4.497

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  4 in total

1.  Anesthetic-Related Neurotoxicity and Neuroimaging in Children: A Call for Conversation.

Authors:  Kara A Bjur; Eric T Payne; Michael E Nemergut; Danqing Hu; Randall P Flick
Journal:  J Child Neurol       Date:  2017-02-13       Impact factor: 1.987

2.  LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome.

Authors:  Vaneeta Bamba; Lynne L Levitsky; Ashley W Wong; Greysha Rivera-Cruz; Cindy Scurlock; Angela E Lin
Journal:  J Assist Reprod Genet       Date:  2022-03-21       Impact factor: 3.412

Review 3.  Care of girls and women with Turner syndrome: beyond growth and hormones.

Authors:  Caroline Culen; Diana-Alexandra Ertl; Katharina Schubert; Lisa Bartha-Doering; Gabriele Haeusler
Journal:  Endocr Connect       Date:  2017-03-23       Impact factor: 3.335

4.  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

  4 in total

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