Mcardle disease: Update of reported mutations and polymorphisms in the Pygm gene

McArdle disease is an autosomal recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or ‘myophosphorylase´), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases limitations in activities of daily living. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense.

Evaluation of the environmental benefits of recycling materials in the moving parts of a wind turbine using the life cycle assessment (LCA)

Wind energy is evaluated positively, from the environmental point of view, considering the wind a renewable resource to produce electricity, avoiding the use of fossil resources during operation, but not much has been studied about the impacts associated with the materials of the wind turbines. This study aims to contribute to an improved understanding of the environmental implications of the materials in the moving parts of a wind turbine and how the Eco strategies as recycling are increasingly adopted to ensure the minimization of environmental impacts. First, we investigate the moving parts of a wind turbine highlighting possible hot spots of impacts. Second, we assess the benefit of introducing recycling materials instead of the originals. © Research India Publications.