2 - Schools incorporating the Life Sciences and Medicine
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Item An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort(2019-07-29) Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F.; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children : a qualitative study(2019-01) Keenan, Karen Forrest; Finnie, Robert M.; Simpson, William G.; McKee, Lorna; Dean, John; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Epidemiology Group; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Help or hindrance : young people's experiences of predictive testing for Huntington's disease(2015-06) Keenan, Karen; McKee, Lorna; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Evaluation; University of Aberdeen.Epidemiology Group; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Business Management; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Full UPF3B function is critical for neuronal differentiation of neural stem cells(2015-05-27) Alrahbeni, Tahani; Sartor, Francesca; Anderson, Jihan; Miedzybrodzka, Zosia; McCaig, Colin; Muller, Berndt; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item The Angelina Jolie effect : how high celebrity profile can have a major impact on provision of cancer related services(2014-09-19) Evans, D Gareth R; Barwell, Julian; Eccles, Diana M; Collins, Amanda; Izatt, Louise; Jacobs, Chris; Donaldson, Alan; Brady, Angela F; Cuthbert, Andrew; Harrison, Rachel; Thomas, Sue; Howell, Anthony; Miedzybrodzka, Zosia; Murray, Alex; The FH02 Study Group; University of Aberdeen.Applied Medicine; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Is there evidence for aetiologically distinct subgroups of idiopathic congenital talipes equinovarus? : A case-only study and pedigree analysis(2011-04) Cardy, Amanda H; Sharp, Linda; Torrance, Nicola; Hennekam, Raoul C; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Medical Sciences; University of Aberdeen.Applied MedicineItem 3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot)(2013-01-30) Duce, Suzanne L; D'Alessandro, Mariella; Du, Yimeng; Jagpal, Baljit; Gilbert, Fiona J; Crichton, Lena; Barker, Simon; Collinson, J Martin; Miedzybrodzka, Zosia; University of Aberdeen.Applied Medicine; University of Aberdeen.Medical Sciences; University of Aberdeen.Grampian Data Safe Haven (DaSH)Item Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone) : a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available(2008-05-29) Langston, Anne L; Johnston, Marie; Francis, Jill; Robertson, Clare; Campbell, Marion K; Entwistle, Vikki A; Marteau, Theresa; Maclennan, Graeme; Weinman, John; McCallum, Marilyn; Miedzybrodska, Zosia; Charnock, Keith; Ralston, Stuart H; Miedzybrodzka, Zosia; University of Aberdeen.Other Applied Health Sciences; University of Aberdeen.Institute of Applied Health Sciences; University of Aberdeen.Aberdeen Centre for Evaluation; University of Aberdeen.Applied MedicineItem How young people find out about their family history of Huntington's disease(Elsevier, 2009-03-26) Forrest Keenan, Karen; van Teijlingen, Edwin; McKee, Lorna; Miedzybrodzka, Zosia; Simpson, Sheila A.Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk. Although studies have explored the barriers and facilitators in family communication about genetic risk, questions remain about when, what, how and indeed whether to tell relatives. The process of disclosure is also dependent upon the way in which genetic information is realized and understood by recipients, but research here is limited. Our paper explores young people’s experiences of finding out about a family history of the hereditary disorder Huntington’s disease (HD). In-depth interviews explored how and when young people found out, their reactions to different communication styles and any impact on family relations. We recruited young people through the North of Scotland regional genetics clinic and the Scottish Huntington’s Association (SHA). Thirtythree young people (aged 9–28) were interviewed. A qualitative analysis was undertaken which revealed four types of disclosure experiences: (1) having always been told, (2) gradually told, (3) HD was kept a secret, or (4) HD as a new diagnosis. In particular, the timing and style of disclosure from relatives, and one’s stage of awareness, were fundamental in structuring participants’ accounts. This article focuses on questions of when, how and indeed whether to tell children, and sits within a broader set of research and practice issues about what professionals and families (should) tell children about parental illness and genetic risk.Item Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of the bone) : a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventative treatment if they were available(BioMed Central, 2008-05-29) Langston, Anne L.; Johnston, Marie; Francis, Jillian Joy; Robertson, Clare; Campbell, Marion Kay; Entwistle, Vikki; Marteau, Theresa; MacLennan, Graeme Stewart; Weinman, John; McCallum, Marilyn; Miedzybrodzka, Zosia; Charnock, Keith; Ralston, Stuart H.; University of Aberdeen, School of Medicine & Dentistry, Division of Applied Health SciencesBackground: Paget's disease of bone (PDB) disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures. Genetic factors play a role in PDB and genetic tests are now conducted for research purposes. It is thus timely to investigate the potential for a clinical programme of genetic testing and preventative treatment for people who have a family history of PDB. This study examines the beliefs of relatives of people with PDB. It focuses particularly on illness and treatment representations as predictors of the acceptability and uptake of potential clinical programmes. Illness representations are examined using Leventhal's Common Sense Self-Regulation Model while cognitions about treatment behaviours (acceptance of testing and treatment uptake) are conceptualised within the Theory of Planned Behaviour. Methods/Design: A postal questionnaire of non-affected relatives of people with Paget's disease. The sample will include relatives of Paget's patients with a family history of Paget's disease and relatives of Paget's patients without a family history of Paget's disease. The questionnaire will explore whether a range of factors relate to acceptability of a programme of genetic testing and preventive treatment in relatives of Paget's disease sufferers. The questionnaire will include several measures: illness representations (as measured by the Brief Illness Perceptions Questionnaire); treatment representations (as measured by Theory of Planned Behaviour-based question items, informed by a prior interview elicitation study); descriptive and demographic details; and questions exploring family environment and beliefs of other important people. Data will also be collected from family members who have been diagnosed with Paget's disease to describe the disease presentation and its distribution within a family. Discussion: The answers to these measures will inform the feasibility of a programme of genetic testing and preventive treatment for individuals who are at a high risk of developing Paget's disease because they carry an appropriate genetic mutation. They will also contribute to theoretical and empirical approaches to predicting diagnostic and treatment behaviours from the combined theoretical models.