96 research outputs found

    Improving Patient Satisfaction Through Engaging Patients in Their Care – A Nurse Led Project

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    https://scholarlycommons.baptisthealth.net/se-2022-smh-bpf/1011/thumbnail.jp

    Tega: A social robot

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    Tega is a new expressive “squash and stretch”, Android-based social robot platform, designed to enable long-term interactions with children

    Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

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    Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

    An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

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    Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe

    Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

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    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

    Erratum: Corrigendum: Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

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    International Chicken Genome Sequencing Consortium. The Original Article was published on 09 December 2004. Nature432, 695–716 (2004). In Table 5 of this Article, the last four values listed in the ‘Copy number’ column were incorrect. These should be: LTR elements, 30,000; DNA transposons, 20,000; simple repeats, 140,000; and satellites, 4,000. These errors do not affect any of the conclusions in our paper. Additional information. The online version of the original article can be found at 10.1038/nature0315

    Regulating work and welfare of the future Towards a new social contract or a new gender contract?

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    In der Studie werden die Urspruenge und Prinzipien der Regulations- und sozialen Sicherungssysteme in Europa analysiert, und es wird gezeigt, wie sie zu unterschiedlichen Beschaeftigungssystemen gefuehrt haben. Einleitend werden kurz einige Probleme von Zukunftsstudien dargelegt. Mit dem Konzept der Beschaeftigungssysteme laesst sich erkennen, wie unterschiedlich die zukuenftige Entwicklung der Arbeit gestaltet werden kann, und zwar angepasst an die Moeglichkeiten und Beschraenkungen der nationalen wie europaeischen Akteure. Die Analyse konzentriert sich auf Charakteristika und Veraenderungen in den Regulationssystemen der Arbeit und der Sozialpolitik in Europa. Zwei Entwicklungen werden dabei besonders hervorgehoben. Zum einen sind es Trends, Tarifverhandlungen zu dezentralisieren und die Beziehung zwischen Beschaeftigungssicherheit und Arbeitsflexibilisierung zu intensivieren. Zum anderen sind es Trends, staatliche Monopole aufzuloesen und zu privatisieren sowie Versuche, neue Formen der Pflege zu entwickeln. Die diesen Trends innewohnenden Moeglichkeiten zur Regulierung der 'Arbeit der Zukunft' werden im Hinblick auf die Entwicklung eines neuen Sozial- und Geschlechtervertrags diskutiert. (HH)'This paper starts off by briefly considering some of the problems of future studies; it discusses how the origins and principles of the systems of regulation and security have generated different employment systems in Europe. The concept of employment systems allows us to identify how the future of work may well be managed in different ways according to the capacity and constraints of national and European actors. The paper focuses on the characteristics and changes in the regulatory systems of labour and social welfare in Europe. Two key developments are identified in these areas. First there are trends to decentralise collective bargaining and to encourage a trade off between labour flexibility and employment security. Second, there have been trends towards a decentralisation and outsourcing of state monopolies and attempts to develop new forms of caring. The prospects these trends imply for regulating the work of the future are discussed in relation to the development of a new social and gender contract.' (author's abstract)German title: Arbeits- und Wohlfahrtsregulierung der Zukunft: ein neuer Sozial- oder ein neuer Geschlechtervertrag?Available from UuStB Koeln(38)-981102608 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

    Beschaeftigung, Arbeitszeit und Uebergangsarbeitsmaerkte in vergleichender Perspektive

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    'In diesem Artikel konzentrieren wir uns auf die vergleichende Perspektive bei der Anwendung des Konzepts der Uebergangsarbeitsmaerkte auf Arbeitszeitregime in verschiedenen Laendern. Eingangs untersuchen wir Tendenzen bei der Regulierung und Verteilung der Normalarbeitszeit in ausgewaehlten Laendern seit Mitte der achtziger Jahre. Diese Analyse betont die besonderen Wege, mit denen der Staat und die Sozialpartner die Reregulierung der Arbeitszeit anstreben. Um diese Veraenderungen zu interpretieren und zu erklaeren, beziehen wir uns auf fruehere international vergleichende Forschung zu industriellen Beziehungen und Sozialpolitik. Indem wir den Schwerpunkt auf bestimmte Arbeitsmarkt-und Haushaltsstrukturen legen, veranschaulichen wir die Anreize und Hindernisse bei der Herstellung des Uebergangs zwischen verschiedenen Beschaeftigungsformen in einer Reihe von Laendern. Der Artikel endet mit einer kurzen Diskussion der Strategien, die die Arbeitsmarktuebergaenge und die Entwicklung von Uebergangsarbeitsmaerkten unter hoechst verschiedenen institutionellen Rahmenbedingungen beeinflussen und setzt sich mit der Frage auseinander, wie sich diese auf die Umstrukturierung der Beschaeftigung auswirken.' (Autorenreferat)'In this article we set out to examine how the potential for transitional labour markets could be developed through the use of flexible working time practices in a range of European countries. First we examine the trends in the regulation and distribution of working time since the mid 1980s, and the role of the social partners in this process. We identify three distinct types which we label: negotiated flexibility, statist flexibility and externally constrained voluntarism. To interpret and explain these changes we draw on earlier cross-national comparative research from industrial relations and social policy. By focussing on particular labour market characteristics and household structures we illustrate the incentives and obstacles to making transitions between different employment statuses. The article concludes with a short discussion of the type of policies that influence labour market transitions and the potential for transitional labour markets.' (author's abstract)Available from UuStB Koeln(38)-20000106393 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman
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