منابع مشابه
The European Rare Diseases Therapeutic Initiative
O ver 5,000 rare diseases have been described, the vast majority being of genetic origin. Rare diseases affect a small number of individuals—less than one person per 2,000, according to the European defi nition, or less than 200,000 individuals in the United States, according to the US defi nition [1]. The few available epidemiological data are too limited to give fi rm details on the number of...
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Rare diffuse infiltrative lung diseases are a challenge for clinicians, radiologists, and pathologists for at least three reasons: (a) their low incidence and prevalence hamper the acquisition of expertise and frequently the diagnosis is delayed; (b) therapeutic actions are mainly empirical and based on steroid use, and (c) pathogenetic events are difficult to explain and only recently new ther...
متن کاملMechanistic and therapeutic insights gained from studying rare skeletal diseases.
Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's under...
متن کاملNew therapeutic targets in rare genetic skeletal diseases.
Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There are currently very few specific therapeutic interventions to prevent, halt or modify skeletal dise...
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ژورنال
عنوان ژورنال: Mayo Clinic Proceedings
سال: 2018
ISSN: 0025-6196
DOI: 10.1016/j.mayocp.2018.03.008