Tay-Sachs disease is a fatal neurodegenerative disorder caused by mutations inactivating the metabolic enzyme HexA. The most common mutation is c.1278insTATC, a tandem 4-bp duplication disrupting expression by frameshift.
View Article and Find Full Text PDFProg Neuropsychopharmacol Biol Psychiatry
January 2022
Ethanol consumption is a worldwide problem. Sensitivity to acute effects of ethanol influences the development of chronic ethanol abuse and ethanol dependence. Environmental and genetic factors have been found to contribute to differential effects of acute ethanol.
View Article and Find Full Text PDFHeart failure (HF) is a major epidemic with rising morbidity and mortality rates that encumber global healthcare systems. While some studies have demonstrated the value of CRP in predicting (i) the development of HFpEF and (ii) long-term clinical outcomes in HFpEF patients, others have shown no such correlation. As a result, we conducted the following systematic review and meta-analysis to assess both the diagnostic and prognostic role of CRP in HFpEF.
View Article and Find Full Text PDFObjectives: The aim of this study is to determine major adverse cardiovascular events (MACE) and all-cause mortality comparing between xanthine oxidase inhibitors (XOIs) and non-XOI users, and between allopurinol and febuxostat.
Methods: This is a retrospective cohort study of gout patients prescribed anti-hyperuricemic medications between 2013 and 2017 using a territory-wide administrative database. XOI users were matched 1:1 to XOI non-users using propensity scores.
J Foot Ankle Surg
December 2016
Cuneiform dislocation associated with Lisfranc injury is a very rare injury. Dislocation over the midfoot due to a seizure has not been previously reported in published studies. A 35-year-old female presented with an intercuneiform dislocation and Lisfranc fracture-dislocation after a generalized seizure.
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