26 research outputs found

    Genetic Sharing with Cardiovascular Disease Risk Factors and Diabetes Reveals Novel Bone Mineral Density Loci.

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    Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity

    A comparison of the nursing competence of graduates and diplomates from UK nursing programmes

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    This paper reviews the literature on nursing competence measurement and reports the results of a comparative quantitative study of the competencies of Project 2000 diplomates and BA (Hons) Adult Nursing graduates from two UK nursing programmes. The findings reveal that graduates appear to overcome any initial limitations and become more competent than the diplomates in certain areas. Attention to social awareness and participation is necessary in both pre-registration programmes, whilst greater attention could be given to graduates' leadership and management development. Diplomates need support in their professional development if they are to achieve the same level of competence as graduates during the first post-qualifying year. There are implications for the level of support afforded to qualifying nurses in their first staff positions; preceptorship programmes could be an important means of assisting newly qualified staff to gain confidence. More research on nurse competencies with larger samples drawn from programmes across the UK is needed

    Critical periods and catastrophic interference effects in the development of self-organizing feature maps

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    The use of self-organizing feature maps (SOFM) in models of cognitive development has frequently been associated with explanations of critical or sensitive periods. By contrast, error-driven connectionist models of development have been linked with catastrophic interference between new knowledge and old knowledge. We introduce a set of simulations that systematically evaluate the conditions under which SOFMs demonstrate critical/sensitive periods in development versus those under which they display interference effects. We explored the relative contribution of network parameters (for example, whether learning rate and neighbourhood reduce across training), the representational resources available to the network, and the similarity between old and new knowledge in determining the functional plasticity of the maps. The SOFMs that achieved the best discrimination and topographic organization also exhibited sensitive periods in development while showing lower plasticity and hence limited interference. However, fast developing, coarser SOFMs also produced topologically organized representations, while permanently retaining their plasticity. We argue that the impact of map organization on behaviour must be interpreted in terms of the cognitive processes that the map is driving
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