32 research outputs found

    Conduites suicidaires chez les adolescents et les jeunes adultes avec un trouble envahissant du développement

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    Les troubles du spectre de l’autisme (TSA) sont caractérisés par des manifestations atypiques dans la socialisation et la communication, par des intérêts restreints et des stéréotypies, et par des difficultés affectives et adaptatives. Les conduites suicidaires sont fréquemment évoquées chez les adolescents et adultes avec un TSA, sans déficience intellectuelle (SDI). Mais la recherche clinique dans ce domaine est très limitée et le diagnostic n’est pas envisagé dans les services d’urgence. Parmi les facteurs de risque individuels de suicide chez les patients TSA, on retrouve la dépression, les troubles anxieux et les antécédents familiaux de troubles affectifs. L’intimidation et les difficultés d’intégration socio-professionnelle sont également des facteurs environnementaux rapportés. Des études en lien avec les caractéristiques cognitives permettraient d’explorer plus rigoureusement la phénoménologie du suicide chez les patients TSA.The Autistic Spectrum Disorders (ASD) are characterized by an atypical sociability, alterations in communication, restricted interests and stereotypies, with adding affective and adaptative disabilities. The suicidal behaviors are frequently observed in the adolescents and adults with an ASD without intellectual deficience. However, the clinical research on the topic is limited and the diagnosis not assessed in the emergency units. Among the individual risk factors of the suicidal behavior in ASD patients, mood and anxiety disorders are found as well as a familial affective disorder history. The intimidation and the lack of socio-professional integration were also reported as environnemental risk factors. Laters tudies taking into account the cognitive characteristics would permit to investigate the suicidal phenomenology in ASD patients

    Fissuration par corrosion sous contrainte de l'alliage 600 dans l'eau à haute température : contribution d'une approche phénoménologique à la compréhension des mécanismes

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    The objective of this study is to better understand the stress corrosion cracking mechanism of alloy 600 in high temperature water. More precisely, it has determined, from quantitative phenomenological data, what is (or what is) the mechanism (s) likely to account for the initiation and propagation of cracks. The main quantitative crack initiation data obtained are as follows: a) a quarter of the grain boundaries that can initiate cracks are cracks; b) The density of crack initiation increases with the hydrogen content of the medium. These results suggest that priming is not due solely to dissolution; Hydrogen uptake appears to be involved in the priming mechanism. With regard to the propagation of cracks, an acceleration, observed only for the largest cracks, has been demonstrated on a material without a layer crimped on its surface. This acceleration can be explained by a critical value of the stress intensity factor, by the confinement of a species at the crack tip, by the crossing of a microstructural barrier or by a collective mechanical effect. As for the slow propagation velocity, a) it is a decreasing function of the density z of fissures deeper than the fissure considered; b) it is proportional to the rate of deformation at the power of 0.6 whatever the value of z; c) it is maximum for a given value of the hydrogen content of the medium (whatever the value of z). Mechanisms based on the formation of a new phase (shen and shewmon, scott models) as well as those based on corrosion-plasticity interactions (model of magnin) are able to account for all of these results. Moreover, these mechanisms proposed to explain the propagation seem to be applicable also to priming.L'objectif de cette etude est de mieux comprendre le mecanisme de fissuration par corrosion sous contrainte de l'alliage 600 dans l'eau a haute temperature. Elle a consiste plus precisement a determiner, a partir de donnees quantitatives phenomenologiques, quel est (ou quels sont) le (ou les) mecanisme(s) susceptible(s) de rendre compte de l'amorcage et de la propagation des fissures. Les principales donnees quantitatives relatives a l'amorcage des fissures obtenues sont les suivantes : a) un quart des joints de grains susceptibles d'amorcer des fissures sont fissures ; b) la densite de fissures amorcees augmente avec la teneur en hydrogene du milieu. Ces resultats laissent a penser que l'amorcage n'est pas du uniquement a la dissolution ; l'absorption d'hydrogene semble etre impliquee dans le mecanisme d'amorcage. En ce qui concerne la propagation des fissures, une acceleration, observee uniquement pour les plus grandes fissures, a ete mise en evidence sur un materiau sans couche ecrouie a sa surface. Cette acceleration peut etre expliquee par une valeur critique du facteur d'intensite de contrainte, par le confinement d'une espece en fond de fissure, par le franchissement d'une barriere microstructurale ou encore par un effet mecanique collectif. Quant a la vitesse de propagation lente, a) elle est une fonction decroissante de la densite z de fissures plus profondes que la fissure consideree ; b) elle est proportionnelle a la vitesse de deformation a la puissance 0,6 quelle que soit la valeur de z ; c) elle est maximale pour une valeur donnee de la teneur en hydrogene du milieu (quelle que soit la valeur de z). Des mecanismes bases sur la formation d'une nouvelle phase (modeles de shen et shewmon, de scott) ainsi que ceux bases sur des interactions corrosion-plasticite (modele de magnin) sont en mesure de rendre compte de l'ensemble de ces resultats. De plus, ces mecanismes proposes pour expliquer la propagation semblent pouvoir s'appliquer aussi a l'amorcage

    Les signes neurologiques mineurs dans la schizophrénie

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    CAEN-BU Médecine pharmacie (141182102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

    Evaluations neuropsychologiques écologiques (application dans les troubles envahissants du développement)

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    CAEN-BU Médecine pharmacie (141182102) / SudocSudocFranceF

    Experimental Evidence for Seed Metabolic Allometry in Barrel Medic (Medicago truncatula Gaertn.)

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    International audienceSeed size is often considered to be an important trait for seed quality, i.e., vigour and germination performance. It is believed that seed size reflects the quantity of reserve material and thus the C and N sources available for post-germinative processes. However, mechanisms linking seed size and quality are poorly documented. In particular, specific metabolic changes when seed size varies are not well-known. To gain insight into this aspect, we examined seed size and composition across different accessions of barrel medic (Medicago truncatula Gaertn.) from the genetic core collection. We conducted multi-elemental analyses and isotope measurements, as well as exact mass GC–MS metabolomics. There was a systematic increase in N content (+0.17% N mg−1) and a decrease in H content (–0.14% H mg−1) with seed size, reflecting lower lipid and higher S-poor protein quantity. There was also a decrease in 2H natural abundance (δ2H), due to the lower prevalence of 2H-enriched lipid hydrogen atoms that underwent isotopic exchange with water during seed development. Metabolomics showed that seed size correlates with free amino acid and hexoses content, and anticorrelates with amino acid degradation products, disaccharides, malic acid and free fatty acids. All accessions followed the same trend, with insignificant differences in metabolic properties between them. Our results show that there is no general, proportional increase in metabolite pools with seed size. Seed size appears to be determined by metabolic balance (between sugar and amino acid degradation vs. utilisation for storage), which is in turn likely determined by phloem source metabolite delivery during seed development

    New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

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    International audienceInterstitial deletions of the long arm of chromosome 12 are rare rearrangements with only 15 cases reported in the literature. The phenotype may include facial dysmorphism, developmental delay, ectodermal abnormalities, cardiac and renal malformations depending on breakpoints' position. Here, we describe a third case of 12(q15-q21.2) deletion ascertained through CGH-array analyses and provide a 5-year follow-up. The patient presented with pre- and postnatal growth retardation, congenital heart defect, developmental delay, and facial dysmorphism changing with age, underlining the importance of long-term follow-up. We compared this new case with previous observations of 12q deletions in order to propose phenotype-karyotype correlations

    The tree that hides the forest: identification of common predisposing loci in several hematopoietic cancers and several dog breeds

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    Histiocytic sarcoma (HS) is a rare but aggressive cancer in humans and dogs. The spontaneous canine model, with the clinical, epidemiological and histological similarities with human HS and specific breed predispositions, is a unique model/opportunity to unravel the genetic bases of this cancer. In this study, we aimed to identify germline risk factors associated with the development of HS in canine predisposed breeds. We used a methodology that combined several genome-wide association studies in a multi-breed and multi-cancer approach, as well as targeted next generation sequencing, and imputation combining several breeds (Bernese mountain dog, Rottweiler, flat coated retriever and golden retriever) and three haematopoietic cancers (HS, lymphoma and mast cell tumor). Results showed that we not only refined the previously identified HS risk CDKN2A locus but we identified new loci on canine chromosomes 2, 5, 12, 14, 20, 26 and X. Capture and targeted sequencing of specific loci pointed towards the existence of regulatory variants in non coding regions and/or methylation mechanisms linked to risk haplotypes, leading to strong cancer predispositions in specific dog breeds. Our results showed that these canine cancer predisposing loci appear to be due to the additive effect of several risk haplotype involved also in other haematopoietic cancers such lymphoma or mast cell tumor, illustrating the pleiotropic nature of these canine cancer loci as observed in human oncology, thus reinforcing the interest of predisposed dog breeds to study cancer initiation and progression
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