Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient's macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier.
View Article and Find Full Text PDFImproving the stability of the cathode interface is one of the critical issues for the development of high-performance Li/O batteries. The most critical feature to address is the development of electrolytes that mitigate side reactions that bring about cathode passivation. It is well-known that the superoxide anion (O) plays a critical role.
View Article and Find Full Text PDFMultiple sclerosis (MS) is the main cause of chronic disability in young people during their most productive years of life and therefore carries a high social and economic burden. The present study aimed to: (1) verify the capacity of an administrative data source to furnish data for constructing a model able to detect the occurrence of clinical relapses in MS patients and (2) validate the constructed theoretical model on a set of real-world data. Two MS experts identified some administrative variables as proxies of clinical relapses.
View Article and Find Full Text PDFBackground: Bronchial asthma is a chronic airways disease and is considered to be one of the major health problems in the Western world. During the last decade, a significant increase in the use of β2-agonists in combination with inhaled corticosteroids has been observed. The aim of this study was to assess the appropriateness of expenditure on these agents in an asthmatic population treated in a real practice setting.
View Article and Find Full Text PDFBackground: The conventional antiviral treatment of chronic hepatitis related to hepatitis C virus (HCV) often leads to anemia. In this case, it is necessary to reduce ribavirin dose or stop treatment, thus reducing the rate of sustained virological response.
Aim: We investigated whether epoetin alpha administration improves treatment adherence and leads to higher percentage of response at the end of therapy and sustained virological response.