91 research outputs found
8-oxo-7,8-dihydro-2'-deoxyguanosine as a biomarker of oxidative damage in oesophageal cancer patients: lack of association with antioxidant vitamins and polymorphism of hOGG1 and GST
International audienceThe present report was designed to investigate the origins of elevated oxidative stress measured in cancer patients in our previous work related to a case-control study (17 cases, 43 controls) on oesophageal cancers. The aim was to characterize the relationship between the levels of 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG), antioxidant vitamins and genetic susceptibility
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
<p>Abstract</p> <p>Background</p> <p>Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray that is based on the previously reported mutations. The purpose of this study was to design a more accurate molecular diagnosis tool.</p> <p>Methods</p> <p>We sequenced the 366 coding exons and flanking regions of the nine known USH genes, in 54 USH patients (27 USH1, 21 USH2 and 6 USH3).</p> <p>Results</p> <p>Biallelic mutations were detected in 39 patients (72%) and monoallelic mutations in an additional 10 patients (18.5%). In addition to biallelic mutations in one of the USH genes, presumably pathogenic mutations in another USH gene were detected in seven patients (13%), and another patient carried monoallelic mutations in three different USH genes. Notably, none of the USH3 patients carried detectable mutations in the only known USH3 gene, whereas they all carried mutations in USH2 genes. Most importantly, the currently used microarray would have detected only 30 of the 81 different mutations that we found, of which 39 (48%) were novel.</p> <p>Conclusions</p> <p>Based on these results, complete exon sequencing of the currently known USH genes stands as a definite improvement for molecular diagnosis of this disease, which is of utmost importance in the perspective of gene therapy.</p
Intéret de la citrulline dans l'athérosclérose et l'hypertension artérielle
PARIS-BIUP (751062107) / SudocSudocFranceF
Données physiopathologiques récentes sur la lipoprotéine(a)
PARIS-BIUP (751062107) / SudocSudocFranceF
Etude in vitro sur la cellule endothéliale des effets de l'arginine ou de la citrulline et d'un inhibiteur de l'HMGCoA réductase sur la production de monoxyde d'azote
PARIS-BIUP (751062107) / SudocSudocFranceF
IntĂ©rĂȘt de la supplĂ©mentation en arginine dans la prĂ©vention cardiovasculaire (une revue des Ă©tudes cliniques)
PARIS-BIUP (751062107) / SudocSudocFranceF
IntĂ©rĂȘt de la citrulline (Ă©tude in vitro dans la cellule endothĂ©liale d'aorte de boeuf et Ă©valuation in vivo chez le rat d'une forme Ă libĂ©ration prolongĂ©e)
La citrulline synthĂ©tisĂ©e dans l intestin est captĂ©e par le rein oĂč elle est transformĂ©e en arginine par l argininosuccinate synthase (ASS) et l arginosuccinate lyase (ASL). L arginine libĂ©rĂ©e peut alors ĂȘtre utilisĂ©e par les cellules endothĂ©liales pour produire du monoxyde d azote (NO) et de la citrulline sous l action de la NO synthase endothĂ©liale (eNOS). La citrulline produite peut ĂȘtre recyclĂ©e en arginine utilisable pour la synthĂšse de NO. Les inhibiteurs de l HMG-CoA rĂ©ductase (statines) augmentent la stabilitĂ© de l ARNm de la eNOS favorisant ainsi la production de NO. Notre hypothĂšse de travail est qu un apport de citrulline associĂ© Ă une statine, permettrait d optimiser la production de NO, et qu une forme de citrulline Ă libĂ©ration prolongĂ©e (LP) permettrait le maintien d une citrullinĂ©mie stable et Ă©levĂ©e. Une premiĂšre Ă©tude rĂ©alisĂ©e in vitro a mis en Ă©vidence que l association de la simvastatine avec l arginine ou la citrulline augmente la production de NO et que la simvastatine augmente aussi l expression des gĂšnes codant pour l ASS et l ASL. Une deuxiĂšme Ă©tude, rĂ©alisĂ©e chez le rat, montre que la citrulline LP permet d obtenir des concentrations stables et Ă©levĂ©es de citrulline et d arginine pendant au moins 12 heures comparĂ©e Ă la citrulline non vectorisĂ©e. L ensemble de notre travail permet de prĂ©ciser les mĂ©canismes molĂ©culaires impliquĂ©s dans la production de NO par l association d une statine et d un prĂ©curseur de NO. Par ailleurs, l Ă©volution de l argininĂ©mie et de la citrullinĂ©mie, suite Ă l administration d une forme de citrulline LP, permet d envisager l utilisation d une telle forme associĂ©e Ă une statine dans le traitement de l athĂ©rosclĂ©rosePARIS-BIUP (751062107) / SudocSudocFranceF
Transparent ceramics for high power laser emission and supercontinuum generation
International audienc
Syndrome allergique pollen-fruit : actualités sur les allergÚnes impliqués
International audienceIn France, 20 to 25% of the population are suffering from allergic disease. Respiratory allergies are the most frequent, especially in children, and are mostly due to pollen grains from trees and plants. Cross sensitizations between pollens and food are more and more frequent, and thus the symptom spectrum has broadened from respiratory to gastrointestinal, and even to anaphylactic shock in the presence of cofactors. Some allergenic protein families implicated in pollen-food allergy syndrome are well characterized from a molecular and a clinical points of view: PR-10 proteins, with the major allergen from Birch tree pollen, Bet v 1, as the most representative one, lipid transfer proteins, profilins and thaumatin-like proteins. Cypress-peach syndrome mechanism has been recently unraveled by discovering in cypress pollen a new allergen, Cup s 7, belonging to the gibberellin-regulated protein (GRP)family, which is responsible for the sensitization of many patients allergic to peach. The primary allergen of snakin/GRPs, Pru p 7, was first reported in peach in 2013, then in other fruits, i.e. japanese apricot, orange and pomegranate. Global warming induces a migration of the allergenic plant species toward the northern countries. It lengthens the pollination period and it increases the air pollution which in turn increases the allergenic capacity of the pollen grains and the sensitivity of the atopic patients.En France, 20 Ă 25 % de la population gĂ©nĂ©rale souffrent d'une maladie allergique. Les allergies respiratoires, prĂ©pondĂ©rantes et au premier rang des maladies chroniques de l'enfant, sont majoritairement dues aux grains de pollen d'arbres et de plantes anĂ©mophiles. Les sensibilisations croisĂ©es entre des pollens et certains aliments sont de plus en plus frĂ©quentes, Ă©tendant ainsi le profil symptomatique du respiratoire au digestif voire Ă la rĂ©action anaphylactique en prĂ©sence de cofacteurs. Certaines familles de protĂ©ines allergisantes impliquĂ©es dans le syndrome pollen-aliment sont bien caractĂ©risĂ©es du point de vue molĂ©culaire et clinique : la famille des PR-10 dont le prototype est Bet v 1, allergĂšne majeur du pollen de bouleau, les lipotransfĂ©rases non spĂ©cifiques, les profilines et les protĂ©ines Thaumatin-like. Le mĂ©canisme du syndrome pĂȘche-cyprĂšs a Ă©tĂ© rĂ©cemment prĂ©cisĂ© grĂące Ă la mise en Ă©vidence dans le pollen de cyprĂšs d'un allergĂšne de la famille des protĂ©ines rĂ©gulĂ©es par la gibbĂ©relline (Gibberellinregulated proteins : GRP) (Cup s 7) responsable de la primo-sensibilisation chez de nombreux patients allergiques Ă la pĂȘche. Le premier allergĂšne de la famille des snakin/GRP, la pĂ©amaclĂ©ine ou Pru p 7, a Ă©tĂ© dĂ©crit en 2013 dans la pĂȘche, puis dans d'autres fruits comme l'abricot japonais, l'orange, et la grenade. Le rĂ©chauffement climatique induit une redistribution des espĂšces allergisantes vers les rĂ©gions du nord. Il allonge la pĂ©riode de pollinisation et est un facteur important favorisant les pollutions atmosphĂ©riques qui augmentent le pouvoir allergisant des pollens et la sensibilitĂ© des personnes atopiques
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