Repository logo
 
Publication

Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations

2016Journal article Restricted access
Simple item page
dc.contributor.authorLeite, Ângela
dc.contributor.authorDinis, Maria Alzira Pimenta
dc.contributor.authorSequeiros, Jorge
dc.contributor.authorPaúl, Constança
dc.date.accessioned2019-09-16T08:20:26Z
dc.date.available2019-09-16T08:20:26Z
dc.date.issued2016
dc.descriptionhttp://sherpa.ac.uk/romeo/issn/1059-7700/pt_PT
dc.description.abstractThis study investigates illness representations of subjects at-risk for 3 autosomal dominant late-onset disorders: Familial Amyloid Polyneuropathy (FAP) TTR V30M, Huntington's disease (HD) and Machado-Joseph disease (MJD), comparing them with the illness representations of subjects at-risk for Hemochromatosis (HH). The present study included a clinical group that consisted of 213 subjects at genetic risk (FAP, HD and MJD), comprising 174 subjects at-risk for FAP, 34 subjects at-risk for HD and only 5 subjects at-risk for MJD; and the control group consisting of 31 subjects at genetic risk for HH. All subjects at-risk were undergoing the process of genetic counseling to learn their genetic status (carrier or non-carrier). Subjects were assessed through a semi-structured single interview, in order to obtain sociodemographic data and the answer to an open-ended question relating to the illness representation issue: "What does this illness mean to you?/ What is this disease to you?" It was in the subjects' metaphors that subjects best expressed what they felt regarding the disease and the situation of being at-risk for this disease. Family is their mirror and their source of learning and, therefore, it is inevitable that family is related to the meaning of the disease itself.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAPA: Leite, Â., Dinis, M. A. P., Sequeiros, J., & Paúl, C. (2016). Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Journal of Genetic Counseling, 25(1), 79-89. doi:10.1007/s10897-015-9846-4pt_PT
dc.identifier.doi10.1007/s10897-015-9846-4pt_PT
dc.identifier.issn1573-3599
dc.identifier.urihttp://hdl.handle.net/10284/7897
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerpt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1007/s10897-015-9846-4pt_PT
dc.subjectAmyloid Neuropathies, Familialpt_PT
dc.subjectFemalept_PT
dc.subjectGenetic Counselingpt_PT
dc.subjectGenetic Testingpt_PT
dc.subjectHumanspt_PT
dc.subjectPedigreept_PT
dc.subjectPortugalpt_PT
dc.subjectPrealbuminpt_PT
dc.subjectRisk Factorspt_PT
dc.titleSubjects At-Risk for Genetic Diseases in Portugal: Illness Representationspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage89pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage79pt_PT
oaire.citation.titleJournal of Genetic Counselingpt_PT
oaire.citation.volume25pt_PT
person.familyNameDinis
person.givenNameMaria Alzira Pimenta
person.identifier493603
person.identifier.ciencia-id4710-147D-FDAF
person.identifier.orcid0000-0002-2198-6740
person.identifier.ridF-3309-2011
person.identifier.scopus-author-id55539804000
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication1e85592a-e8e2-4aea-bd8e-1007c94388c0
relation.isAuthorOfPublication.latestForDiscovery1e85592a-e8e2-4aea-bd8e-1007c94388c0

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Leite 2016.pdf
Size:
208.78 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

3ERL - Papers/ Artigos Científicos