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Elizabeth Ormondroyd Stephanie Oates Michael Parker Edward Blair Hugh Watkins 《European journal of human genetics : EJHG》2014,22(1):88-93
Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are often asymptomatic and clinically undetected. Prophylactic interventions are available and cascade testing is recommended to identify family members at risk. When a disease-causing mutation has been identified in a family, pre-symptomatic genetic testing (PSGT) is available. This study explores perceptions of the cascade process, impact of PSGT and attitudes towards direct contact as an alternative to family-mediated dissemination for ICCs. In depth, interviews were conducted with 22 participants eligible for PSGT for Hypertrophic Cardiomyopathy or Long QT syndrome. Data were analysed using an inductive, thematic approach. Risk is perceived to be low pre-test in the absence of symptoms, and participants frequently test with the aim of ruling out risk to self and children. Testing of children is a complex decision; although older participants have concerns about possible adverse effects of genetic testing early in the life course, young participants are pragmatic about their result. The meaning of a positive genetic test result may be difficult to conceptualise in the absence of clinical evidence of disease, and this may deter further dissemination to at-risk family members. A majority of participants see advantages in direct contact from health professionals and support it in principle. Implications for practice include addressing risk perception pre-test, and presenting genetic test information as part of a risk stratification process rather than a binary outcome. Families may require more support or intervention in cascading genetic test information. 相似文献
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Morassa Mohseni Justin Cidado Sarah Croessmann Karen Cravero Ashley Cimino-Mathews Hong Yuen Wong Rob Scharpf Daniel J. Zabransky Abde M. Abukhdeir Joseph P. Garay Grace M. Wang Julia A. Beaver Rory L. Cochran Brian G. Blair D. Marc Rosen Bracha Erlanger Pedram Argani Paula J. Hurley Josh Lauring Ben Ho Park 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(49):17606-17611
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Krone N Reisch N Idkowiak J Dhir V Ivison HE Hughes BA Rose IT O'Neil DM Vijzelaar R Smith MJ MacDonald F Cole TR Adolphs N Barton JS Blair EM Braddock SR Collins F Cragun DL Dattani MT Day R Dougan S Feist M Gottschalk ME Gregory JW Haim M Harrison R Olney AH Hauffa BP Hindmarsh PC Hopkin RJ Jira PE Kempers M Kerstens MN Khalifa MM Köhler B Maiter D Nielsen S O'Riordan SM Roth CL Shane KP Silink M Stikkelbroeck NM Sweeney E Szarras-Czapnik M Waterson JR Williamson L Hartmann MF Taylor NF 《The Journal of clinical endocrinology and metabolism》2012,97(2):E257-E267
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Association of human immune response to Aedes aegypti salivary proteins with dengue disease severity
Machain-Williams C Mammen MP Zeidner NS Beaty BJ Prenni JE Nisalak A Blair CD 《Parasite immunology》2012,34(1):15-22
Dengue viruses (DENV; family Flaviviridae, genus Flavivirus) are transmitted by Aedes aegypti mosquitoes and can cause dengue fever (DF), a relatively benign disease, or more severe dengue haemorrhagic fever (DHF). Arthropod saliva contains proteins delivered into the bite wound that can modulate the host haemostatic and immune responses to facilitate the intake of a blood meal. The potential effects on DENV infection of previous exposure to Ae. aegypti salivary proteins have not been investigated. We collected Ae. aegypti saliva, concentrated the proteins and fractionated them by nondenaturing polyacrylamide gel electrophoresis (PAGE). By the use of immunoblots, we analysed reactivity with the mosquito salivary proteins (MSP) of sera from 96 Thai children diagnosed with secondary DENV infections leading either to DF or DHF, or with no DENV infection, and found that different proportions of each patient group had serum antibodies reactive to specific Ae. aegypti salivary proteins. Our results suggest that prior exposure to MSP might play a role in the outcome of DENV infection in humans. 相似文献