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Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Duarte Filho,D.; Bock,H.; Saraiva-Pereira,M.L.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: STK15 F31I polymorphism; Breast cancer risk; Mammographic density. |
Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004 |
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Silva,R.C.R.; Saute,J.A.M.; Silva,A.C.F.; Coutinho,A.C.O.; Saraiva-Pereira,M.L.; Jardim,L.B.. |
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determined in these diseases. Our aim was to investigate the effect of OT on both physical disabilities and depressive symptoms of spinocerebellar ataxia type 3 (SCA3) patients. Genomically diagnosed SCA3 patients older than 18 years were invited to participate in the study. Disability, as evaluated by functional independence measurement and Barthel incapacitation score, Hamilton Rating Scale for Depression,... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Spinocerebellar ataxia 3; Occupational therapy; Rehabilitation; Depression; Machado-Joseph disease; Polyglutamine diseases. |
Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000600003 |
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Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Filho,D.D.; Bock,H.; Saraiva-Pereira,M.L.; Ewald,I.P.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic polymorphisms; Estrogen receptor gene; Progesterone receptor gene; Breast cancer susceptibility. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
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