ABSTRACT
Objectives: Quality of life (QoL) is a multi-dimensional phenomenon composed of core domains that are influenced by personal characteristics, values, and environmental contributions. There are eight core domains of QoL aligned with both the United Nations and the International Association for the Scientific Study of Intellectual and Developmental Disabilities (IASSIDD). The Personal Outcome Scale (POS), is a semi-structured self and proxy instrument that specifically measures these aspects of QoL for people with an intellectual disability. Methods: A total of 85 people with an intellectual disability and their primary keyworker (n = 85) took part in this study. A convenience sample recruitment strategy was employed to recruit participants during the calendar year from January-December 2020. Participants completed the self-report and proxy POS, and clinic-demographic data was also considered. Results: QoL is higher in those who have a dedicated service planner and also for those with a less severe to profound disability. People who were in gainful employment reported significantly higher QoL as did those availing of outreach and residential services, over and above local services. Conclusions: This research shows that there are distinct and specific factors that relate to QoL for people with an intellectual disability community-based services in Ireland. Future research could aim to investigate these longitudinally, and specifically how QoL relates to cognitive and functional outcomes.
ABSTRACT
MicroRNAs have been established as key regulators of tumor gene expression and as prime biomarker candidates for clinical phenotypes in epithelial ovarian cancer (EOC). We analyzed the coexpression and regulatory structure of microRNAs and their co-localized gene targets in primary tumor tissue of 20 patients with advanced EOC in order to construct a regulatory signature for clinical prognosis. We performed an integrative analysis to identify two prognostic microRNA/mRNA coexpression modules, each enriched for consistent biological functions. One module, enriched for malignancy-related functions, was found to be upregulated in malignant versus benign samples. The second module, enriched for immune-related functions, was strongly correlated with imputed intratumoral immune infiltrates of T cells, natural killer cells, cytotoxic lymphocytes, and macrophages. We validated the prognostic relevance of the immunological module microRNAs in the publicly available The Cancer Genome Atlas data set. These findings provide novel functional roles for microRNAs in the progression of advanced EOC and possible prognostic signatures for survival.
Subject(s)
Gene Expression Profiling , Gene Expression Regulation, Neoplastic , MicroRNAs/genetics , Neoplasms, Glandular and Epithelial/genetics , Neoplasms, Glandular and Epithelial/immunology , Ovarian Neoplasms/genetics , Ovarian Neoplasms/immunology , Adult , Aged , Aged, 80 and over , Carcinoma, Ovarian Epithelial , Demography , Female , Humans , Killer Cells, Natural/metabolism , Macrophages/metabolism , MicroRNAs/metabolism , Middle Aged , Neoplasm Staging , Neoplasms, Glandular and Epithelial/pathology , Ovarian Neoplasms/pathology , RNA, Messenger/genetics , RNA, Messenger/metabolism , Reproducibility of Results , Survival Analysis , T-Lymphocytes, Cytotoxic/metabolismABSTRACT
We describe the development of the Genotype and Phenotype (GaP) Registry, a living biobank of normal volunteers who are genotyped for genetic markers related to human disease. Participants in the GaP can be recalled for hypothesis driven study of disease associated genetic variants. The GaP has facilitated functional studies of several autoimmune disease associated loci including Csk, Blk, PDRM1 (Blimp-1) and PTPN22. It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease.