2,702 research outputs found

    Uptake of genetic counselling services by patients with cystic fibrosis and their families

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    Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing hospital-based genetic counselling services.Method: The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics, School of Pathology, University of the Witwatersrand, and the National Health Laboratory Service (NHLS) in Johannesburg, were retrospectively reviewed from 1990 to 2006, the year when hospital-based genetic counselling services were introduced.Results: Parents of CF probands were the largest single group (35%) of counsellees. Most individuals (66%) attended genetic counselling to gather information. Most had been referred by medical specialists (56%). Only 10% of referrals originated from general practitioners. On average, from 1990-2005, six families received genetic counselling annually, whereas in 2006, 58 families were seen. In 140 unrelated families, 1 991 relatives with carrier risks of . 25% were identified. Only 11% of these relatives underwent mutation testing, and eight per cent received genetic counselling through our division over the review period.Conclusion: Overall, referrals of family members (of affected CF  individuals) to genetic counselling, by general practitioners, are poor. Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics, than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern, since these relatives are at high risk of having affected children, if their partners are CF carriers. Education of affected individuals, their close relatives, and medical practitioners, should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF, and other genetic conditions

    Perceptions from the British Pakistani Muslim community towards mental health

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    Mental health issues are worldwide, impacting people from all backgrounds, ethnicities, and religious denominations. The current study aims to explore the perceptions of the British Pakistani Muslim community towards mental health and barriers towards seeking treatment. Semi-structured interviews with seven Muslim participants of Pakistani origin (four female) explore how they perceive and understand mental health in the Muslim community. Reflexive thematic analysis identified four themes: (a) culture vs religion, (b) religion as a protective factor, (c) fear of public opinion, and (d) integration of religious and professional services. Participants discussed a negative cultural perception and positive religious perception towards mental health. Services that integrate both a religious and western psychological model to effectively treat mental health issues are suggested. The results indicate towards a tailored framework to tackle mental health and can be used in addressing issues and concerns of the Muslim community concerning mental health

    Interdisciplinary approach to the demography of Jamaica

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    <p>Background: The trans-Atlantic slave trade dramatically changed the demographic makeup of the New World, with varying regions of the African coast exploited differently over roughly a 400 year period. When compared to the discrete mitochondrial haplotype distribution of historically appropriate source populations, the unique distribution within a specific source population can prove insightful in estimating the contribution of each population. Here, we analyzed the first hypervariable region of mitochondrial DNA in a sample from the Caribbean island of Jamaica and compared it to aggregated populations in Africa divided according to historiographically defined segments of the continent's coastline. The results from these admixture procedures were then compared to the wealth of historic knowledge surrounding the disembarkation of Africans on the island.</p> <p>Results: In line with previous findings, the matriline of Jamaica is almost entirely of West African descent. Results from the admixture analyses suggest modern Jamaicans share a closer affinity with groups from the Gold Coast and Bight of Benin despite high mortality, low fecundity, and waning regional importation. The slaves from the Bight of Biafra and West-central Africa were imported in great numbers; however, the results suggest a deficit in expected maternal contribution from those regions.</p> <p>Conclusions: When considering the demographic pressures imposed by chattel slavery on Jamaica during the slave era, the results seem incongruous. Ethnolinguistic and ethnographic evidence, however, may explain the apparent non-random levels of genetic perseverance. The application of genetics may prove useful in answering difficult demographic questions left by historically voiceless groups.</p&gt

    A Slight Excess of Large Scale Power from Moments of the Peculiar Velocity Field

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    The peculiar motions of galaxies can be used to infer the distribution of matter in the Universe. It has recently been shown that measurements of the peculiar velocity field indicates an anomalously high bulk flow of galaxies in our local volume. In this paper we find the implications of the high bulk flow for the power spectrum of density fluctuations. We find that analyzing only the dipole moment of the velocity field yields an average power spectrum amplitude which is indeed much higher than the LCDM value. However, by also including shear and octupole moments of the velocity field, and marginalizing over possible values for the growth rate, an average power spectrum amplitude which is consistent with LCDM is recovered. We attempt to infer the shape of the matter power spectrum from moments of the velocity field, and find a slight excess of power on scales ~ h-1 Gpc.Comment: 6 pages,6 figures, updated to match accepted versio

    Performance Evaluation of Judgmental Directional Exchange Rate Predictions

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    Cataloged from PDF version of article.A procedure is proposed for examining different aspects of performance for judgemental directional probability predictions of exchange rate movements. In particular, a range of new predictive performance measures is identified to highlight specific expressions of strengths and weaknesses in judgemental directional forecasts. Proposed performance qualifiers extend the existing accuracy measures, enabling detailed comparisons of probability forecasts with ex-post empirical probabilities that are derived from changes in the logarithms of the series. This provides a multi-faceted evaluation that is straightforward for practitioners to implement, while affording the flexibility of being used in situations where the time intervals between the predictions have variable lengths. The proposed procedure is illustrated via an application to a set of directional probability exchange rate forecasts for the US Dollar/Swiss Franc from 23/7/96 to 7/12/99 and the findings are discussed. D 2005 International Institute of Forecasters. Published by Elsevier B.V. All rights reserved

    Gestational diabetes mellitus in Africa: a systematic review.

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    BACKGROUND: Gestational diabetes mellitus (GDM) is any degree of impaired glucose tolerance first recognised during pregnancy. Most women with GDM revert to normal glucose metabolism after delivery of their babies; however, they are at risk of developing type 2 diabetes later in life as are their offspring. Determining a country's GDM prevalence can assist with policy guidelines regarding GDM screening and management, and can highlight areas requiring research. This systematic review assesses GDM prevalence in Africa. METHODS AND FINDINGS: Three electronic databases were searched without language restrictions; PubMed, Scopus and the Cochrane Library. Thirty-one search terms were searched. Eligible articles defined GDM, stated what GDM screening approaches were employed and reported GDM prevalence. The reporting quality and risk of bias within each study was assessed. The PRISMA guidelines for systematic reviews were followed. The literature search identified 466 unique records. Sixty full text articles were reviewed of which 14 were included in the systematic review. One abstract, for which the full text article could not be obtained, was also included. Information regarding GDM classification, screening methods and prevalence was obtained for six African countries; Ethiopia (n = 1), Morocco (n = 1), Mozambique (n = 1), Nigeria (n = 6), South Africa (n= 4) and Tanzania (n = 1). Prevalence figures ranged from 0% (Tanzania) to 13.9% (Nigeria) with some studies focussing on women with GDM risk factors. Most studies utilised the two hour 75 g oral glucose tolerance test and applied the World Health Organization's diagnostic criteria. CONCLUSIONS: Six countries, equating to 11% of the African continent, were represented in this systematic review. This indicates how little is known about GDM in Africa and highlights the need for further research. Considering the increasing public health burden of obesity and type 2 diabetes, it is essential that the extent of GDM is understood in Africa to allow for effective intervention programmes.This is the final published version of the article. It was originally published here: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0097871

    Apolarity, Hessian and Macaulay polynomials

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    A result by Macaulay states that an Artinian graded Gorenstein ring R of socle dimension one and socle degree b can be realized as the apolar ring of a homogeneous polynomial f of degree b. If R is the Jacobian ring of a smooth hypersurface g=0, then b is just equal to the degree of the Hessian polynomial of g. In this paper we investigate the relationship between f and the Hessian polynomial of g.Comment: 12 pages. Improved exposition, minor correction

    Population trajectory and stressors of Acropora palmata sites in the Florida Keys

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    The decline of elkhorn coral, Acropora palmata, has been ongoing for decades, but the causes of decline and the resulting population status continue to be topics of study. Past efforts to categorize stressors have ranged from spatially and/or temporally focused efforts that detect local stressors but may miss broader patterns to meta-analyses that identify large-scale trends but may not account for finer-scale variability. We here conduct an analysis of sites surveyed across five years (2010-2015) and much of the Florida Reef Tract in order to look at large-scale patterns while also accounting for site, habitat, seasonal, and annual variability. Through fate-tracking across nine sites, we assess trends in total tissue amount, fragmentation and fragment survival, and prevalence and severity of stressors. Acute stressors included severe bleaching events and spikes in disease prevalence, while chronic stressors were dominated by corallivorous snail predation. Four of nine survey sites experienced near total declines in population over the survey period, but the timing and cause of each differed, even among sites within a few kilometers of each other. There were notable differences in the prevalence and severity of stressors between forereef and backreef sites. We conclude that generalizing the population trajectories and stressors of A. palmata can misrepresent the conditions at individual sites. We also conclude that the forereef and backreef environments examined here differ in their stressors, and that habitat should be identified as a variable of interest in assessing A. palmata trajectories. We use this information to speculate that the remaining population of A. palmata within Dry Tortugas National Park may have survived as a result of its unique backreef geography
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