The central nervous system represents a major target tissue for therapeutic approach of numerous lysosomal storage disorders. Fabry disease arises from the lack or dysfunction of the lysosomal alpha-galactosidase A (GLA) enzyme, resulting in substrate accumulation and multisystemic clinical manifestations. Current enzyme replacement therapies (ERTs) face limited effectiveness due to poor enzyme biodistribution in target tissues and inability to reach the brain.
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December 2024
Unlabelled: Alterations in the tumor suppressor genes (TSGs) , , and are associated with treatment resistance, worse survival, and aggressive variants of prostate cancer (AVPC). We previously developed and validated a signature reflecting low TSG expression (TSG) that was associated with poor outcomes in patients with metastatic hormone-sensitive prostate cancer (mHSPC) treated with androgen deprivation therapy (ADT) ± docetaxel. The aim of this multicenter retrospective study was to validate the TSG signature in patients with mHSPC treated with ADT and an androgen receptor pathway inhibitor (ARPI) and to explore clinical characteristics at progression according to TSG status.
View Article and Find Full Text PDFBackground: The high incidence and mortality rates of urothelial carcinoma mean it remains a significant global health concern. Its prevalence is notably pronounced in industrialized countries, with Spain registering one of the highest incidences in Europe. Treatment options are available for various stages of bladder cancer.
View Article and Find Full Text PDFExposure to ambient particulate matter (PM) has been identified as a major global health concern; however, the importance of specific chemical PM components remains uncertain. Recent studies have suggested that carbonaceous aerosols are important detrimental components of the particle mixture. Using time-series methods, we investigated associations between short-term exposure to carbonaceous particles and mortality in London, UK.
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