Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.
Anemia is a common comorbidity among patients with chronic health failure and appears to be associated with increased mortality and morbidity. However, it is unclear whether correcting it with erythropoiesis stimulating agents improves clinical outcomes. Searching in Epistemonikos database, which is maintained by screening 30 databases, we identified 11 systematic reviews including 17 trials overall addressing the question of this article. We combined the evidence using meta-analysis and generated a summary of findings following the GRADE approach. We concluded the use of erythropoiesis stimulating agents in patients with chronic heart failure and anemia does not decrease mortality, and it is not clear if they decrease the risk of hospitalization or if they improve functional status because the certainty of the evidence is very low. The risk of thromboembolic events probably increases.
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