1000 resultados para Oreille -- Maladies


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Collection : Comment guérir ?

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Collection : Comment guérir ?

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Relentless progress in our knowledge of the nature and functional consequences of human genetic variation allows for a better understanding of the protracted battle between pathogens and their human hosts. Multiple polymorphisms have been identified that impact our response to infections or to anti-infective drugs, and some of them are already used in the clinic. However, to make personalized medicine a reality in infectious diseases, a sustained effort is needed not only in research but also in genomic education.

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Invasive fungal diseases (IFDs) have become major causes of morbidity and mortality among highly immunocompromised patients. Authoritative consensus criteria to diagnose IFD have been useful in establishing eligibility criteria for antifungal trials. There is an important need for generation of consensus definitions of outcomes of IFD that will form a standard for evaluating treatment success and failure in clinical trials. Therefore, an expert international panel consisting of the Mycoses Study Group and the European Organization for Research and Treatment of Cancer was convened to propose guidelines for assessing treatment responses in clinical trials of IFDs and for defining study outcomes. Major fungal diseases that are discussed include invasive disease due to Candida species, Aspergillus species and other molds, Cryptococcus neoformans, Histoplasma capsulatum, and Coccidioides immitis. We also discuss potential pitfalls in assessing outcome, such as conflicting clinical, radiological, and/or mycological data and gaps in knowledge.

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Considerable progress has been achieved in recent years in treating children affected by bone diseases. Advances in the understanding of the molecular pathophysiology of genetic bone diseases have led to the development of enzyme replacement therapies for various lysosomal storage diseases, following the breakthrough initiated in treating Gaucher disease. Clinical studies are underway with tailored molecules correcting bone fragility and alleviating chronic bone pain and other manifestations of hypophosphatasia, or promoting growth of long bones in achondroplasia patients. We further report our very encouraging experience with intravenous bisphosphonate treatment in children suffering from secondary osteopenia and the high prevalence of calcium and vitamin D deficits in these severely disabled children.

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En Europe, une maladie est dite rare lorsqu'elle affecte moins d'une personne sur 2000. C'est une affection invalidante pouvant mettre en jeu le pronostic vital et qui nécessite des efforts combinés spéciaux pour sa prise en charge. Plus de 7000 maladies rares ont été identifiées à ce jour. Prises dans leur ensemble, elles affectent 30 millions de personnes en Europe et constituent un problème majeur de santé publique. L'Union européenne et de nombreux Etats membres ont déjà pris des mesures spécifiques de grande ampleur pour lutter contre les maladies rares, mais cette problématique est encore largement méconnue en Suisse. La première Journée européenne des maladies rares invite les autorités politiques suisses, les professionnels de santé, les scientifiques et l'industrie pharmaceutique à soutenir les efforts déjà initiés et progresser dans la lutte contre les maladies rares dans notre pays.