RESUMO
OBJECTIVES: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the 'Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic risk and controls' (IMPACT) study. The IMPACT study is a multi-national study of targeted prostate cancer (PrCa) screening in individuals with a known germline pathogenic variant (GPV) in either the BReast CAncer gene 1 (BRCA1) or the BReast CAncer gene 2 (BRCA2). SUBJECTS AND METHODS: Participants enrolled in the IMPACT study were invited to complete a psychosocial questionnaire prior to each annual screening visit for a minimum of 5 years. The questionnaire included questions on sociodemographics and the following measures: Hospital Anxiety and Depression Scale, Impact of Event Scale, 36-item Short-Form Health Survey, Memorial Anxiety Scale for PrCa, Cancer Worry Scale, risk perception and knowledge. RESULTS: A total of 760 participants completed questionnaires: 207 participants with GPV in BRCA1, 265 with GPV in BRCA2 and 288 controls (non-carriers from families with a known GPV). We found no evidence of clinically concerning levels of general or cancer-specific distress or poor health-related quality of life in the cohort as a whole. Individuals in the control group had significantly less worry about PrCa compared with the carriers; however, all mean scores were low and within reported general population norms, where available. BRCA2 carriers with previously high prostate-specific antigen (PSA) levels experience a small but significant increase in PrCa anxiety (P = 0.01) and PSA-specific anxiety (P < 0.001). Cancer risk perceptions reflected information provided during genetic counselling and participants had good levels of knowledge, although this declined over time. CONCLUSION: This is the first study to report the longitudinal psychosocial impact of a targeted PrCa screening programme for BRCA1 and BRCA2 carriers. The results reassure that an annual PSA-based screening programme does not have an adverse impact on psychosocial health or health-related quality of life in these higher-risk individuals. These results are important as more PrCa screening is targeted to higher-risk groups.
Assuntos
Detecção Precoce de Câncer , Predisposição Genética para Doença , Neoplasias da Próstata , Humanos , Masculino , Neoplasias da Próstata/psicologia , Neoplasias da Próstata/genética , Neoplasias da Próstata/diagnóstico , Pessoa de Meia-Idade , Idoso , Predisposição Genética para Doença/psicologia , Detecção Precoce de Câncer/psicologia , Qualidade de Vida , Genes BRCA1 , Inquéritos e Questionários , Genes BRCA2 , Heterozigoto , Ansiedade/etiologia , Estudos LongitudinaisRESUMO
Microarray comparative genomic hybridisation (aCGH) provides an estimate of the relative abundance of genomic DNA (gDNA) taken from comparator and reference organisms by hybridisation to a microarray containing probes that represent sequences from the reference organism. The experimental method is used in a number of biological applications, including the detection of human chromosomal aberrations, and in comparative genomic analysis of bacterial strains, but optimisation of the analysis is desirable in each problem domain.We present a method for analysis of bacterial aCGH data that encodes spatial information from the reference genome in a hidden Markov model. This technique is the first such method to be validated in comparisons of sequenced bacteria that diverge at the strain and at the genus level: Pectobacterium atrosepticum SCRI1043 (Pba1043) and Dickeya dadantii 3937 (Dda3937); and Lactococcus lactis subsp. lactis IL1403 and L. lactis subsp. cremoris MG1363. In all cases our method is found to outperform common and widely used aCGH analysis methods that do not incorporate spatial information. This analysis is applied to comparisons between commercially important plant pathogenic soft-rotting enterobacteria (SRE) Pba1043, P. atrosepticum SCRI1039, P. carotovorum 193, and Dda3937.Our analysis indicates that it should not be assumed that hybridisation strength is a reliable proxy for sequence identity in aCGH experiments, and robustly extends the applicability of aCGH to bacterial comparisons at the genus level. Our results in the SRE further provide evidence for a dynamic, plastic 'accessory' genome, revealing major genomic islands encoding gene products that provide insight into, and may play a direct role in determining, variation amongst the SRE in terms of their environmental survival, host range and aetiology, such as phytotoxin synthesis, multidrug resistance, and nitrogen fixation.
Assuntos
Hibridização Genômica Comparativa/métodos , Enterobacteriaceae/genética , Genoma Bacteriano , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Doenças das Plantas/microbiologia , Análise por Conglomerados , Simulação por Computador , Transferência Genética Horizontal , Variação Genética , Ilhas Genômicas , Cadeias de Markov , Modelos Estatísticos , Distribuição Normal , Reprodutibilidade dos TestesRESUMO
Discourses of 'choice' are routinely involved in sexual and reproductive rights' advocacy. In this article, we offer a discursive psychological examination of how 'choice' is oriented to, in online deliberations on the ongoing movement for abortion rights in Ireland. Comment posters treated 'choice' as involving outcomes of and motives for choosing, in negotiating legitimacy of women's rights to choose. These accompanied alternative versions of women, either as independent or as intimately bound up with pregnancy/motherhood, which were flexibly used in negotiation legitimacy of women's rights to 'choice' in abortion practices. Choice advocacy is then situated in particular discursive practices.