Suchergebnisse

C'est donc via le service des Ressources Humaines, qui a faxé la demande de stage à l'UFR IDIST dès le 24 mai 2000, que le service Qualité m'a recruté. Les 2 employées, la responsable Affaire Qualité et son assistante Qualité avec qui j'ai travaillé durant les deux mois de stage, m'ont laissé carte blanche pour la méthodologie. Toutefois, l'objectif était double. D'une part satisfaire les attentes des auditeurs de la qualité et d'autre part, bien entendu, satisfaire les utilisateurs. Donc, trouver un juste équilibre entre standardisation et souplesse dans la gestion documentaire. Il m'a donc été demandé de faire un état des lieux des ressources documentaire pour la société SECA Engineering. Dans un premier temps, recenser les documents présents dans le Groupe, ensuite réfléchir à une gestion documentaire adaptée.

Patients have been showing a growing interest in taking active participation in decision making, and having the opportunity to drive clinical investigation. This is more common for patients who have a rare disease than for those with more prevalent diseases. The EuroSoftCalc.Net COST Action, a group of clinicians and researchers involved in the dystrophic calcification process held a meeting in which three representatives of patients' associations, coming from Portugal, France and Spain, discussed the role of patients and their associations, namely in the Action, and also the main concerns in their countries. The disparities in health care between European Union countries with regard to connective tissue calcifying diseases, and the existing conflicts of interest, were a matter of debate during the meeting. As a consequence of the presentations and the debate that followed, it became clear that, despite their countries, the main concerns of the patients are identical, namely a lack of specific therapy and follow-up clinical guidelines, delays in the diagnosis, difficulties in getting members to enrol to associations, and/or difficulties with doctors' explanations for the diseases. The attendees also agreed that EuroSoftCalc.Net group should help to set up new associations where no Patient Associations presently exist, and, furthermore, should release diagnosis and follow-up guidelines, especially helpful in countries, and/or for diseases, where no multidisciplinary consultations are available.

Mutations in the FERMT1 gene (also known as KIND1), encoding the focal adhesion protein kindlin-1, underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with an intriguing progressive phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. Herein we review the clinical and genetic data of 62 patients, and delineate the natural history of the disorder, for example, age at onset of symptoms, or risk of malignancy. Although most mutations are predicted to lead to premature termination of translation, and to loss of kindlin-1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications. Nevertheless, the clinical variability is not fully explained by genotype-phenotype correlations. Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications. ; Contract grant sponsors: International Kindler Syndrome; The German Federal Ministry for Education and Research; The Excellence Initiative of the German federal and stage government and Freiburg Institute for Advanced Studies, School of Life Sciences (to L.B.T); The Italian Ministry of Heath