140 resultados para Rossi, Leena-Maija


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The handicap principle of sexual selection theory states that colourful phenotypic traits signal aspects of individual quality because only individuals in prime condition can afford to produce and bear conspicuous traits. Melanin-based pigments participate in the elaboration of many secondary sexual characters and, given their role in sexual selection, melanin-based coloration may therefore honestly reject individual quality. Although the expression of melanism is usually under genetic control, in some species it is condition dependent. However, the underlying physiological mechanism is yet unknown. Based on the negative feedback link between corticosterone and melanogenesis ( melanocortins, tyrosinase) in response to stressful environmental factors, we hypothesize that corticosterone mediates the condition-dependent component of melanism. This hypothesis predicts that stressful factors induce a rise in circulating corticosterone which inhibits the secretion of melanocortins and tyrosinase and in turn melanin production. We tested this prediction by manipulating the level of corticosterone at the time of melanin production in nestling barn owls, Tyto alba, a species showing heritable variation in the degree of phaeomelanism from reddish-brown to white. The finding that corticosterone-implanted nestlings produced feathers with less phaeomelanic coloration than placebo-implanted nestlings is consistent with the hypothesis that the environment-mediated reduction in the degree of melanism is, at least in part, caused by a rise in corticosterone. In species in which the expression of melanin-based coloration is condition dependent, we now need a test showing that individuals with less corticosterone and more melanin-based signals are individuals in better condition.

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La pratique du test au centre de dépistage anonyme VIH de la Policlinique médicale universitaire de Lausanne semble indiquer que de plus en plus de personnes demandent à être testées, souvent au moment inaugural de la constitution de la vie du couple. L'indication au test de dépistage devrait être le résultat d'une négociation entre le patient et son médecin. Ce dernier est en outre confronté à la complexité des enjeux sociétaux et éthiques que le test représente. Il s'agit d'une tâche difficile, d'autant plus que la requête d'un test n'implique pas le seul devenir du sujet, mais aussi, dans la dimension sexuelle, le devenir de la personne qu'il rencontre. L'avènement du Sida a modifié la vie du couple en rendant la sexualité plus problématique et en donnant un caractère impératif l'exigence de négociation entre les partenaires du couple. La pratique de la prévention révèle aussi comment le Sida met en jeu la responsabilité que les médecins ont de négocier avec leurs patients, à l'instar de ce que ces derniers devraient faire avec leur partenaire dans un but de protection.

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Alternative premessenger RNA splicing enables genes to generate more than one gene product. Splicing events that occur within protein coding regions have the potential to alter the biological function of the expressed protein and even to create new protein functions. Alternative splicing has been suggested as one explanation for the discrepancy between the number of human genes and functional complexity. Here, we carry out a detailed study of the alternatively spliced gene products annotated in the ENCODE pilot project. We find that alternative splicing in human genes is more frequent than has commonly been suggested, and we demonstrate that many of the potential alternative gene products will have markedly different structure and function from their constitutively spliced counterparts. For the vast majority of these alternative isoforms, little evidence exists to suggest they have a role as functional proteins, and it seems unlikely that the spectrum of conventional enzymatic or structural functions can be substantially extended through alternative splicing.

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Cancer omics data are exponentially created and associated with clinical variables, and important findings can be extracted based on bioinformatics approaches which can then be experimentally validated. Many of these findings are related to a specific class of non-coding RNA molecules called microRNAs (miRNAs) (post-transcriptional regulators of mRNA expression). The related research field is quite heterogeneous and bioinformaticians, clinicians, statisticians and biologists, as well as data miners and engineers collaborate to cure stored data and on new impulses coming from the output of the latest Next Generation Sequencing technologies. Here we review the main research findings on miRNA of the first 10 years in colon cancer research with an emphasis on possible uses in clinical practice. This review intends to provide a road map in the jungle of publications of miRNA in colorectal cancer, focusing on data availability and new ways to generate biologically relevant information out of these huge amounts of data.

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We are interested in the development, implementation and testing of an orthotropic model for cardiac contraction based on an active strain decomposition. Our model addresses the coupling of a transversely isotropic mechanical description at the cell level, with an orthotropic constitutive law for incompressible tissue at the macroscopic level. The main differences with the active stress model are addressed in detail, and a finite element discretization using Taylor-Hood and MINI elements is proposed and illustrated with numerical examples.

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Problématique : En réaction à l'émergence de société plurielle, la communauté médicale a mis en place des outils de prise en charge de l'altérité. Cependant, la culture, issue notamment des origines, des croyances et des expériences est unique à chaque patient et lui sert à appréhender la maladie. Ce pourquoi, les outils de prise en compte de la culture, et de valorisation du patient, peuvent être potentiellement étendus à tous. Objectifs : Déterminer la place de la culture en médecine de famille, les enjeux qui en dépendent et la pertinence de l'utilisation des compétences transculturelles avec tous les patients. Perfectionner ces compétences dans le but de créer un modèle bio-psycho-socio-culturel améliorant la communication et la compréhension entre patients et thérapeutes. Méthodologie : Réalisation d'une revue de la littérature en déterminant comment la culture est intégrée à la médecine sous forme de savoir théorique. Réalisation d'une recherche qualitative de type exploratoire sur la base d'entretiens enregistrés auprès de 7 médecins de famille romands, pour montrer comment la notion de culture est intégrée en pratique. Comparaison entre médecine transculturelle et approche pratique de terrain. Résultats : La culture influe sur toutes les étapes de la consultation. La pratique des médecins est influencée par leur conception de la culture. La construction commune d'une représentation de la maladie, basée sur les conceptions du patient, améliore la collaboration thérapeutique. Les compétences cliniques transculturelles actuelles semblent être applicables à tous, mais nécessitent un léger développement en intégrant l'expérience pratique quotidienne de la médecine de famille. Conclusion : L'utilisation des compétences cliniques transculturelles (savoir, savoir-faire, savoir-être) avec tous les patients est réalisable et peut être affinée d'une quatrième compétence le savoir- percevoir : capacité d'être alerte et réceptif à toute subtilité culturelle qui ressurgit de l'interaction.

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Cet article présente les résultats de la revue systématique: Jacquerioz FA, Croft AM. Drugs for preventing malaria in travellers. Cochrane Database Syst Rev. 2009 Oct 7;(4):CD006491. PMID: 19821371.

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Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.

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BACKGROUND: In low-mortality countries, life expectancy is increasing steadily. This increase can be disentangled into two separate components: the delayed incidence of death (i.e. the rectangularization of the survival curve) and the shift of maximal age at death to the right (i.e. the extension of longevity). METHODS: We studied the secular increase of life expectancy at age 50 in nine European countries between 1922 and 2006. The respective contributions of rectangularization and longevity to increasing life expectancy are quantified with a specific tool. RESULTS: For men, an acceleration of rectangularization was observed in the 1980s in all nine countries, whereas a deceleration occurred among women in six countries in the 1960s. These diverging trends are likely to reflect the gender-specific trends in smoking. As for longevity, the extension was steady from 1922 in both genders in almost all countries. The gain of years due to longevity extension exceeded the gain due to rectangularization. This predominance over rectangularization was still observed during the most recent decades. CONCLUSIONS: Disentangling life expectancy into components offers new insights into the underlying mechanisms and possible determinants. Rectangularization mainly reflects the secular changes of the known determinants of early mortality, including smoking. Explaining the increase of maximal age at death is a more complex challenge. It might be related to slow and lifelong changes in the socio-economic environment and lifestyles as well as population composition. The still increasing longevity does not suggest that we are approaching any upper limit of human longevity.