Le paradoxe du torball : contribution à l'étude de l'intégration des déficients visuels

Cette étude est consacrée au torball - sport collectif officiel et spécifique - et aux non-voyants et mal-voyants. L'objectif de cette recherche est de montrer l'évolution diachronique des sujets et le paradoxe de cette activité sportive. De par leur cécité ou leur déficience visuelle, ces personnes sont exclues de la culture sportive des voyants. Alors, elles mettent en œuvre un processus ségrégatif très identitaire, d'abord individuel puis collectif, afin d'obtenir dans un second temps la reconnaissance sociale de leur pratique pour développer ensuite un processus de légitimation. Le torball présente ainsi les attributs des sports collectifs. Aveugles et déficients visuels sportifs sont à leur tour investis des attributs des sportifs ordinaires et de ceux des sportifs de haut niveau voyants. Enfin, ils acquièrent par leur volonté de légitimation la possibilité de s'intégrer et de changer les représentations sociales de la population.This study is based on torball -a specific and official collective sport- and on visually deficient people. The aim of this research is to establish the paradoxical evolution of the players. Because of their handicap, they are excluded from the majority of the sporting practices. Therefore, they begin a process of individual, then collective identification in order to obtain social recognition and then legitimisation. So, the torball is compared with the other collective sports. The visually deficient people are also compared with the other sportsmen and champions. Finally, thanks to their wish of legitimisation, they acquire the ability to integrate themselves and to change the social representations of the other people

Le paradoxe du torball : contribution à l'étude de l'intégration des déficients visuels

Cette étude est consacrée au torball - sport collectif officiel et spécifique - et aux non-voyants et mal-voyants. L'objectif de cette recherche est de montrer l'évolution diachronique des sujets et le paradoxe de cette activité sportive. De par leur cécité ou leur déficience visuelle, ces personnes sont exclues de la culture sportive des voyants. Alors, elles mettent en œuvre un processus ségrégatif très identitaire, d'abord individuel puis collectif, afin d'obtenir dans un second temps la reconnaissance sociale de leur pratique pour développer ensuite un processus de légitimation. Le torball présente ainsi les attributs des sports collectifs. Aveugles et déficients visuels sportifs sont à leur tour investis des attributs des sportifs ordinaires et de ceux des sportifs de haut niveau voyants. Enfin, ils acquièrent par leur volonté de légitimation la possibilité de s'intégrer et de changer les représentations sociales de la population.This study is based on torball -a specific and official collective sport- and on visually deficient people. The aim of this research is to establish the paradoxical evolution of the players. Because of their handicap, they are excluded from the majority of the sporting practices. Therefore, they begin a process of individual, then collective identification in order to obtain social recognition and then legitimisation. So, the torball is compared with the other collective sports. The visually deficient people are also compared with the other sportsmen and champions. Finally, thanks to their wish of legitimisation, they acquire the ability to integrate themselves and to change the social representations of the other people

Le paradoxe du torball : contribution à l'étude de l'intégration des déficients visuels

Cette étude est consacrée au torball - sport collectif officiel et spécifique - et aux non-voyants et mal-voyants. L'objectif de cette recherche est de montrer l'évolution diachronique des sujets et le paradoxe de cette activité sportive. De par leur cécité ou leur déficience visuelle, ces personnes sont exclues de la culture sportive des voyants. Alors, elles mettent en œuvre un processus ségrégatif très identitaire, d'abord individuel puis collectif, afin d'obtenir dans un second temps la reconnaissance sociale de leur pratique pour développer ensuite un processus de légitimation. Le torball présente ainsi les attributs des sports collectifs. Aveugles et déficients visuels sportifs sont à leur tour investis des attributs des sportifs ordinaires et de ceux des sportifs de haut niveau voyants. Enfin, ils acquièrent par leur volonté de légitimation la possibilité de s'intégrer et de changer les représentations sociales de la population.This study is based on torball -a specific and official collective sport- and on visually deficient people. The aim of this research is to establish the paradoxical evolution of the players. Because of their handicap, they are excluded from the majority of the sporting practices. Therefore, they begin a process of individual, then collective identification in order to obtain social recognition and then legitimisation. So, the torball is compared with the other collective sports. The visually deficient people are also compared with the other sportsmen and champions. Finally, thanks to their wish of legitimisation, they acquire the ability to integrate themselves and to change the social representations of the other people

Severe PATCHED1 deficiency in cancer-prone Gorlin patient cells results in intrinsic radiosensitivity

PURPOSE: Gorlin syndrome (or basal-cell nevus syndrome) is a cancer-prone genetic disease in which hypersusceptibility to secondary cancer and tissue reaction after radiation therapy is debated, as is increased radiosensitivity at cellular level. Gorlin syndrome results from heterozygous mutations in the PTCH1 gene for 60% of patients, and we therefore aimed to highlight correlations between intrinsic radiosensitivity and PTCH1 gene expression in fibroblasts from adult patients with Gorlin syndrome. METHODS AND MATERIALS: The radiosensitivity of fibroblasts from 6 patients with Gorlin syndrome was determined by cell-survival assay after high (0.5-3.5 Gy) and low (50-250 mGy) γ-ray doses. PTCH1 and DNA damage response gene expression was characterized by real-time polymerase chain reaction and Western blotting. DNA damage and repair were investigated by γH2AX and 53BP1 foci assay. PTCH1 knockdown was performed in cells from healthy donors by using stable RNA interference. Gorlin cells were genotyped by 2 complementary sequencing methods. RESULTS: Only cells from patients with Gorlin syndrome who presented severe deficiency in PATCHED1 protein exhibited a significant increase in cellular radiosensitivity, affecting cell responses to both high and low radiation doses. For 2 of the radiosensitive cell strains, heterozygous mutations in the 5' end of PTCH1 gene explain PATCHED1 protein deficiency. In all sensitive cells, DNA damage response pathways (ATM, CHK2, and P53 levels and activation by phosphorylation) were deregulated after irradiation, whereas DSB repair recognition was unimpaired. Furthermore, normal cells with RNA interference-mediated PTCH1 deficiency showed reduced survival after irradiation, directly linking this gene to high- and low-dose radiosensitivity. CONCLUSIONS: In the present study, we show an inverse correlation between PTCH1 expression level and cellular radiosensitivity, suggesting an explanation for the conflicting results previously reported for Gorlin syndrome and possibly providing a basis for prognostic screens for radiosensitive patients with Gorlin syndrome and PTCH1 mutations

L’étrangeté du torball. Contribution à l’étude de l’intégration des déficients visuels

International audienc

Syntheses and characterization of new organically grafted silica foams

In this study, new hybrid Organo-Si(HIPE) macrocellular foams have been synthesized via sol–gel process, direct emulsions and lyotropic mesophases as templating agents followed by a final grafting process of silane organically modified. A variety of sililated groups, including methyl, benzyl, amines, mercapto, pyrrol and dinitro have been successfully grafted. The effects of the various organosilanes on the physical chemical properties of the resulting materials have been thoroughly characterized using several analytical techniques (SEM, TEM, SAXS, mercury porosimetry, nitrogen adsorption isotherms, FTIR, 29Si MAS NMR). If the resulting grafted compounds, labeled gOrgano Si(HIPE), exhibit the same macroscopic texture than the starting silica open-cell matrices, we found a reduction of the mesoporosity depending upon the size of the organic moiety in use and the associated enhance molecular hindrance. Final porous materials functionalized at the molecular level are potential outstanding candidates for applications such as heterogeneous catalyst, scavenger and sensor

Design of Hierarchical Porous Carbonaceous Foams from a Dual-Template Approach and Their Use as Electrochemical Capacitor and Li Ion Battery Negative Electrodes

Porous carbon foams were prepared by pyrolysis of phenolic resin from a dual-template approach using silica monoliths as hard templates and triblock copolymers as soft templating agents. Macroporosity of 50-80% arose from the Si(HIPE) hard template (the acronym "HIPE" refers to the high internal phase emulsion process), while the soft template generated micro- or mesoporosity, according to the operating procedure. The final materials exhibited a Brunauer-Emmett- Teller specific surface area of 600-900 m2 3 g-1. Their performances as electrodes for electrochemical capacitors or Li ion battery negative electrodes were investigated. The mesoporous foams gave the best capacitance, up to 20 F 3 g-1. In battery configuration, the microporous foams delivered an irreversible capacity of 500-600 mA 3 h 3 g-1 during the first discharge. Upon charging, partial extraction of Li gave reversible capacities of 125-150 mA 3 h 3 g-1

Tough silicon carbide macro/mesocellular crack-free monolithic foams

Taking the benefit of Si(HIPE) as a hard monolithic template to shape macro-mesoporous foams by using polycarbosilane as pre-ceramic precursor beta-SiC, macro/mesocellular foams have been synthesized. Both macroscopic Plateau border morphology and final mechanical properties can be tuned through varying the starting amount of polycarbosilane precursor. Resulting silicon carbide foams, labeled SiC(HIPE), are composed of beta-SiC at the microscopic length scale, while bearing 110 m(2) g(-1) as specific area at the mesoscopic length scale, and up to 92% of macroporosity. The as-synthesized crack-free SiC(HIPE) monolithic foams are associated with outstanding mechanical properties as, for instance, 50-58 MPa of compression Young modulus. The thermal behaviors of these foams are assessed with bulk heat capacities comprising between 0.15 J g(-1) K(-1) to 0.55 J g(-1) K(-1) that decrease when the foam porosity increases, while their heat conductivities are following the same rules ranging from 2.6 to 4.6 W m(-1) K(-1)

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

This article is dedicated to the memory of Olga M. Sinilnikova who died prematurely on June 30, 2014. Olga participated decisively in structuring research around hereditary predisposition to BC and in leading the GENESIS study with Nadine Andrieu and Dominique Stoppa-Lyonnet. She also contributed to the design of the GENESIS-NGS project.International audiencePathogenic variants in BRCA1 and BRCA2 only explain the underlying genetic cause of about 10% of hereditary breast and ovarian cancer families. Because of cost-effectiveness, multigene panel testing is often performed even if the clinical utility of testing most of the genes remains questionable. The purpose of our study was to assess the contribution of rare, deleterious-predicted variants in DNA repair genes in familial breast cancer (BC) in a well-characterized and homogeneous population. We analyzed 113 DNA repair genes selected from either an exome sequencing or a candidate gene approach in the GENESIS study, which includes familial BC cases with no BRCA1 or BRCA2 mutation and having a sister with BC (N = 1,207), and general population controls (N = 1,199). Sequencing data were filtered for rare loss-of-function variants (LoF) and likely deleterious missense variants (MV). We confirmed associations between LoF and MV in PALB2, ATM and CHEK2 and BC occurrence. We also identified for the first time associations between FANCI, MAST1, POLH and RTEL1 and BC susceptibility. Unlike other associated genes, carriers of an ATM LoF had a significantly higher risk of developing BC than carriers of an ATM MV (ORLoF = 17.4 vs. ORMV = 1.6; p Het = 0.002). Hence, our approach allowed us to specify BC relative risks associated with deleterious-predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility. We also highlight that different types of variants within the same gene can lead to different risk estimates