18 research outputs found

    Pilot study evaluating the effects of an intervention to enhance culturally appropriate hypertension education among healthcare providers in a primary care setting

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    Background: To improve hypertension care for ethnic minority patients of African descent in the Netherlands, we developed a provider intervention to facilitate the delivery of culturally appropriate hypertension education. This pilot study evaluates how the intervention affected the attitudes and perceived competence of hypertension care providers with regard to culturally appropriate care.Methods: Pre- and post-intervention questionnaires were used to measure the attitudes, experienced barriers, and self-reported behaviour of healthcare providers with regard to culturally appropriate cardiovascular and general care at three intervention sites (N = 47) and three control sites (N = 35).Results: Forty-nine participants (60%) completed questionnaires at baseline (T0) and nine months later (T1). At T1, healthcare providers who received the intervention found it more important to consider the patient's culture when delivering care than healthcare providers who did not receive the intervention (p = 0.030). The intervention did not influence ex

    Pan-cancer analysis of whole genomes

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    Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

    The Rotterdam Study: 2016 objectives and design update

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    Engaging Australian Aboriginal narratives to challenge attitudes and create empathy in health care: A methodological perspective

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    © 2016 The Author(s).Background: Unconscious bias and negative attitudes towards minority groups have detrimental effects on the way health care is, or is not, provided to these groups. Recognition of racist attitudes and behaviours as well as understanding clients' experiences of health and health care are pivotal to developing better health care strategies to positively impact on the quality and safety of care provided to Indigenous people. Indigenous research demands inclusive research processes and the use of culturally appropriate methodologies. This paper presents a methodological account of collecting narratives which accurately and respectfully reflect Aboriginal Australians' experiences with health care in Western Australia. The purpose of these narratives is to provide health students and professionals with an opportunity to 'walk-in the shoes' of Aboriginal people where face-to-face interaction is not feasible. Methods: With the incorporation of Indigenous peoples' voices being an important link in cultural safety, the project was led by an Indigenous Reference group, who encouraged active participation of Aboriginal people in all areas of the project. Using a phenomenological approach and guided by the Indigenous Reference group, yarning data collection was implemented to collect stories focusing on Aboriginal people's experiences with health care services. An open-access, on-line website was established to host education resources developed from these 'yarns'. Results: Yarning provided a rich source of information on personal experiences and encouraged the story provider to recognise their facilitative role in the research process. While the methodology used in this project was lengthy and labour-intensive it afforded a respectful manner for story collection and highlighted several innate flaws when Western methods are applied to an Indigenous context. Conclusion: Engagement of an Indigenous Reference Group was pivotal to designing an appropriate methodology that incorporated the voices of Aboriginal people in a multimedia resource of Aboriginal narratives. However further research is warranted to understand how the resources are being used and integrated into curricula, and their impact on students and health care outcomes

    Assessment of gene-by-sex interaction effect on bone mineral density

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    Sexual dimorphism in various bone phenotypes, including bone mineral density (BMD), is widely observed; however, the extent to which genes explain these sex differences is unclear. To identify variants with different effects by sex, we examined gene-by-sex autosomal interactions genome-wide, and performed expression quantitative trait loci (eQTL) analysis and bioinformatics network analysis. We conducted an autosomal genome-wide meta-analysis of gene-by-sex interaction on lumbar spine (LS) and femoral neck (FN) BMD in 25,353 individuals from 8 cohorts. In a second stage, we followed up the 12 top single-nucleotide polymorphisms (SNPs; p?<?1?X?10-5) in an additional set of 24,763 individuals. Gene-by-sex interaction and sex-specific effects were examined in these 12 SNPs. We detected one novel genome-wide significant interaction associated with LS-BMD at the Chr3p26.1-p25.1 locus, near the GRM7 gene (male effect?=?0.02 and p?=?3.0?X?10-5; female effect?=?-0.007 and p?=?3.3?X?10-2), and 11 suggestive loci associated with either FN- or LS-BMD in discovery cohorts. However, there was no evidence for genome-wide significant (p?<?5?X?10-8) gene-by-sex interaction in the joint analysis of discovery and replication cohorts. Despite the large collaborative effort, no genome-wide significant evidence for gene-by-sex interaction was found to influence BMD variation in this screen of autosomal markers. If they exist, gene-by-sex interactions for BMD probably have weak effects, accounting for less than 0.08% of the variation in these traits per implicated SNP. (c) 2012 American Society for Bone and Mineral Research
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