Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/2230
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degois.publication.firstPage105pt_PT
degois.publication.issue2pt_PT
degois.publication.lastPage114pt_PT
degois.publication.locationBrazilpt_PT
degois.publication.titleJBRA assisted reproductionpt_PT
dc.relation.publisherversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473703/pt_PT
dc.contributor.authorLopes, R.-
dc.contributor.authorCoelho, T.-
dc.contributor.authorBarros, A.-
dc.contributor.authorSousa, M.-
dc.date.accessioned2018-08-28T10:15:09Z-
dc.date.available2018-08-28T10:15:09Z-
dc.date.issued2017-06-01-
dc.identifier.citationJBRA Assist Reprod. 2017 Jun 1;21(2):105-114pt_PT
dc.identifier.issn1517-5693-
dc.identifier.issn1518-0557-
dc.identifier.urihttp://hdl.handle.net/10400.16/2230-
dc.description.abstractFamilial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.pt_PT
dc.language.isoengpt_PT
dc.publisherBrazilian Society of Assisted Reproductionpt_PT
dc.relationinfo:eu-repo/grantAgreement/FCT/5876/136056/PTpt_PT
dc.rightsopenAccesspt_PT
dc.subjectTransthyretin-related hereditary amyloidosispt_PT
dc.subjectphysiopathologypt_PT
dc.subjectgeneticspt_PT
dc.subjectsexual dysfunctionpt_PT
dc.subjecttherapypt_PT
dc.subjectin vitro fertilizationpt_PT
dc.titleCorino de Andrade disease: mechanisms and impact on reproductionpt_PT
dc.typearticlept_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.peerreviewedyespt_PT
degois.publication.volume21pt_PT
dc.identifier.doi10.5935/1518-0557.20170025pt_PT
Aparece nas colecções:SNF - Artigos publicados em revistas indexadas na Medline

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