9 research outputs found

    Conceptions du handball féminin et masculin d'un arbitre de D1 en relation avec les comportements transgressifs

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    Souchon Nicolas, Traclet Alan, Coulomb Geneviève. Conceptions du handball féminin et masculin d'un arbitre de D1 en relation avec les comportements transgressifs. In: Les Cahiers de l'INSEP, n°34, 2003. Expertise et sport de haut niveau. pp. 325-330

    Communications verbales d'entraîneurs et comportements d'agression de jeunes joueurs en handball : quelles relations ?

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    Une étude exploratoire qui vise à étudier les relations entre les communications verbales délivrées par les entraîneurs et les comportements d'agression des pratiquants en situation naturelle d'activité au moyen d'une double grille d'observation : la grille d'observation des comportements d'agression en handball et la grille d'observation des entraîneurs en situation de je

    Une discussion à propos des Gender Studies

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    International audienceA debate where scholars address research methodology as well as heuristic and epistemic concerns relevant to Gender Studies in as much as as they apply to film and moving image studies.Débat entre différents chercheurs abordant des questions relatives à la méthodologie, aux capacités heuristiques et au bien-fondé épistémologique des Gender Studies appliquées au cinéma et à l’audiovisuel

    Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency

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    International audienceMutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause very early onset inflammatory bowel diseases (VOIBD) or multiple intestinal atresia associated with immune deficiency of various severities, ranging from combined immune deficiency to mild lymphopenia. In this manuscript, we report the clinical, biological and molecular features of a patient born from consanguineous parents, presenting with recurrent lymphoproliferative syndrome and pan-hypergammaglobulinemia associated with chronic intestinal pseudo obstruction (CIPO). Genetic screening revealed the novel c.974G>A (p.R325Q) mutation in homozygosity in the TTC7A gene. The patient's phenotype differs significantly from that previously associated with TTC7A deficiency in humans. It becomes closer to the one reported in the ttc7a-deficient mice that invariably develop a proliferative lymphoid and myeloid disorder. Functional studies showed that the extreme variability in the clinical phenotype couldn't be explained by the cellular phenotype. Indeed, the patient's TTC7A mutation, as well as the murine-ttc7 mutant, have the same functional impact on protein expression, DNA instability and chromatin compaction, as the other mutations that lead to classical TTC7A-associated phenotypes. Co-inheritance of genetic variants may also contribute to the unique nature of the patient's phenotype. The present case report shows that the clinical spectrum of TTC7A deficiency is much broader than previously suspected. Our findings should alert the physicians to consider screening of TTC7A mutations in patients with lymphoproliferative syndrome and hypergammaglobulinemia and/or chronic intestinal pseudo-obstruction

    The Mediterranean region under climate change

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    This book has been published by Allenvi (French National Alliance for Environmental Research) to coincide with the 22nd Conference of Parties to the United Nations Framework Convention on Climate Change (COP22) in Marrakesh. It is the outcome of work by academic researchers on both sides of the Mediterranean and provides a remarkable scientific review of the mechanisms of climate change and its impacts on the environment, the economy, health and Mediterranean societies. It will also be valuable in developing responses that draw on “scientific evidence” to address the issues of adaptation, resource conservation, solutions and risk prevention. Reflecting the full complexity of the Mediterranean environment, the book is a major scientific contribution to the climate issue, where various scientific considerations converge to break down the boundaries between disciplines
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