763 research outputs found

    The Budapest robot : pragmatic intelligence

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    Race-Ethnic Differences in the Association of Genetic Loci with HbA1c levels and Mortality in U.S. Adults: The Third National Health and Nutrition Examination Survey (NHANES III)

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    Background: Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele frequencies (RAFs) for SNPs near SPTA1, HFE, ANK1, HK1, ATP11A, FN3K, TMPRSS6, G6PC2, GCK, MTNR1B; 2) association of SNPs with HbA1c and 3) association of SNPs with mortality. Methods We studied 3,041 non-diabetic individuals in the NHANES (National Health and Nutrition Examination Survey) III. We stratified the analysis by race/ethnicity (NHW: non-Hispanic white; NHB: non-Hispanic black; MA: Mexican American) to calculate RAF, calculated a genotype score by adding risk SNPs, and tested associations with SNPs and the genotype score using an additive genetic model, with type 1 error = 0.05. Results: RAFs varied widely and at six loci race-ethnic differences in RAF were significant (p < 0.0002), with NHB usually the most divergent. For instance, at ATP11A, the SNP RAF was 54% in NHB, 18% in MA and 14% in NHW (p < .0001). The mean genotype score differed by race-ethnicity (NHW: 10.4, NHB: 11.0, MA: 10.7, p < .0001), and was associated with increase in HbA1c in NHW (β = 0.012 HbA1c increase per risk allele, p = 0.04) and MA (β = 0.021, p = 0.005) but not NHB (β = 0.007, p = 0.39). The genotype score was not associated with mortality in any group (NHW: OR (per risk allele increase in mortality) = 1.07, p = 0.09; NHB: OR = 1.04, p = 0.39; MA: OR = 1.03, p = 0.71). Conclusion: At many HbA1c loci in NHANES III there is substantial RAF race-ethnic heterogeneity. The combined impact of common HbA1c-associated variants on HbA1c levels varied by race-ethnicity, but did not influence mortality

    The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

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    Background: Whole genome sequencing (WGS) is already being used in certain clinical and research settings, but its impact on patient well-being, health-care utilization, and clinical decision-making remains largely unstudied. It is also unknown how best to communicate sequencing results to physicians and patients to improve health. We describe the design of the MedSeq Project: the first randomized trials of WGS in clinical care. Methods/Design This pair of randomized controlled trials compares WGS to standard of care in two clinical contexts: (a) disease-specific genomic medicine in a cardiomyopathy clinic and (b) general genomic medicine in primary care. We are recruiting 8 to 12 cardiologists, 8 to 12 primary care physicians, and approximately 200 of their patients. Patient participants in both the cardiology and primary care trials are randomly assigned to receive a family history assessment with or without WGS. Our laboratory delivers a genome report to physician participants that balances the needs to enhance understandability of genomic information and to convey its complexity. We provide an educational curriculum for physician participants and offer them a hotline to genetics professionals for guidance in interpreting and managing their patients’ genome reports. Using varied data sources, including surveys, semi-structured interviews, and review of clinical data, we measure the attitudes, behaviors and outcomes of physician and patient participants at multiple time points before and after the disclosure of these results. Discussion The impact of emerging sequencing technologies on patient care is unclear. We have designed a process of interpreting WGS results and delivering them to physicians in a way that anticipates how we envision genomic medicine will evolve in the near future. That is, our WGS report provides clinically relevant information while communicating the complexity and uncertainty of WGS results to physicians and, through physicians, to their patients. This project will not only illuminate the impact of integrating genomic medicine into the clinical care of patients but also inform the design of future studies. Trial registration ClinicalTrials.gov identifier NCT0173656

    Ethos de femmes ministres. Recherche d’indices quantifiables

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    Cette recherche, en cours, tente d’appréhender des spécificités langagières dans la communication verbale publique de quatre femmes, ministres du gouvernement Jospin. Un vaste corpus monothématique, composé d’extraits d’interventions dans les médias et l’Assemblée, est soumis à une analyse lexicométrique dans la perspective d’une approche quantitative de la manifestation du genre dans le discours politique.This research, still in progress, aims at understanding the linguistic specificities in the public verbal communication of four Jospin government female ministers. A huge monothematic corpus, made of extracts of public interventions in the media and the National Assembly is submitted to lexicometrics analysis, in the perspective of a quantitative approach of the expression of gender in the politic discourse.Esta investigación, que aún sigue, se propone aprehender la especificidad del lenguaje de la comunicación verbal pública de cuatro mujeres, ministras del gobierno de Jospin. Un vasto corpus monotemático, compuesto por fragmentos de sus intervenciones en los medios de comunicación y en el Parlamento es sometido a un análisis lexicométrico, desde la perspectiva de una aproximación cuantitativa de la expresión del género en el discurso político

    Ethos de femmes ministres. Recherche d’indices quantifiables

    Get PDF
    Cette recherche, en cours, tente d’appréhender des spécificités langagières dans la communication verbale publique de quatre femmes, ministres du gouvernement Jospin. Un vaste corpus monothématique, composé d’extraits d’interventions dans les médias et l’Assemblée, est soumis à une analyse lexicométrique dans la perspective d’une approche quantitative de la manifestation du genre dans le discours politique.This research, still in progress, aims at understanding the linguistic specificities in the public verbal communication of four Jospin government female ministers. A huge monothematic corpus, made of extracts of public interventions in the media and the National Assembly is submitted to lexicometrics analysis, in the perspective of a quantitative approach of the expression of gender in the politic discourse.Esta investigación, que aún sigue, se propone aprehender la especificidad del lenguaje de la comunicación verbal pública de cuatro mujeres, ministras del gobierno de Jospin. Un vasto corpus monotemático, compuesto por fragmentos de sus intervenciones en los medios de comunicación y en el Parlamento es sometido a un análisis lexicométrico, desde la perspectiva de una aproximación cuantitativa de la expresión del género en el discurso político

    Biotensegrity of the Extracellular Matrix: Physiology, Dynamic Mechanical Balance, and Implications in Oncology and Mechanotherapy

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    Cells have the capacity to convert mechanical stimuli into chemical changes. This process is based on the tensegrity principle, a mechanism of tensional integrity. To date, this principle has been demonstrated to act in physiological processes such as mechanotransduction and mechanosensing at different scales (from cell sensing through integrins to molecular mechanical interventions or even localized massage). The process involves intra- and extracellular components, including the participation of extracellular matrix (ECM) and microtubules that act as compression structures, and actin filaments which act as tension structures. The nucleus itself has its own tensegrity system which is implicated in cell proliferation, differentiation, and apoptosis. Despite present advances, only the tip of the iceberg has so far been uncovered regarding the role of ECM compounds in influencing biotensegrity in pathological processes. Groups of cells, together with the surrounding ground substance, are subject to different and specific forces that certainly influence biological processes. In this paper, we review the current knowledge on the role of ECM elements in determining biotensegrity in malignant processes and describe their implication in therapeutic response, resistance to chemo- and radiotherapy, and subsequent tumor progression. Original data based on the study of neuroblastic tumors will be provided

    Why do women seek ultrasound scans from commercial providers during pregnancy?

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    The commercial availability of ultrasound scans for pregnant women has been controversial yet little is known about why women make use of such services. This article reports on semi-structured interviews with women in the UK who have booked a commercial scan, focusing on the reasons women gave for booking commercially provided ultrasound during a low-risk pregnancy. Participants’ reasons for booking a scan are presented in five categories: finding out the sex of the foetus; reassurance; seeing the baby; acquiring keepsakes and facilitating bonding. Our analysis demonstrates that women's reasons for booking commercial scans are often multiple and are shaped by experiences of antenatal care as well as powerful cultural discourses related to ‘good’ parenting and the use of technology in pregnancy. Sociological and public debate about the availability of commercial ultrasound and its social and personal impacts should consider the wider sociocultural context that structures women's choices to make use of such services
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