Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density lipoprotein receptors (LDLR). Two inherited forms of hypercholesterolemia result from loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations in the LDLR gene, and autosomal recessive hypercholesterolemia (ARH), of unknown etiology. Here we map the ARH locus to an approximately 1-centimorgan interval on chromosome 1p35 and identify six mutations in a gene encoding a putative adaptor protein (ARH). ARH contains a phosphotyrosine binding (PTB) domain, which in other proteins binds NPXY motifs in the cytoplasmic tails of cell-surface receptors, including the LDLR. ARH appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts.
Background: Diabetes mellitus might be associated with severity and death in patients with COVID-19; but its mechanisms are still unknown. Objective: to carry out a systematic review of what has been published so far on mortality in patients with COVID-19 associated with diabetes comorbidity. Methods: A search was carried out in PubMed, Ovid MEDLINE, EMBASE and EMBASE Classic and Google Scholar databases; up to April 2020 using the search medical subheadings (MeSH) terms : "mortality from Coronavirus", "mortality from COVID-19" and "mortality in patients with diabetes by COVID-19". Enrolled studies were assessed independently by two blinded researchers. Studies quality was assessed using the Jedad scale. The articles score equal or greater than two points were considered highly methodological quality. Results: Initially, 65 articles were found and 46 were excluded for not meeting the eligibility criteria. Among the 10 remaining, 3 were excluded because had Jedad score lower than two points. Among the remaining seven, two were excluded because they were meta-analysis. Eventually, ve articles remained for nal analysis. For all, mortality among patients with diabetes was higher than without diabetes. The risk of global mortality among diabetes patients was 8.9 times higher (p<0.0001) than without diabetes The time of diagnosis could be more determining for mortality, meanwhile HB1Ac level was not determining Conclusion: Mortality risk observed by COVID-19 is higher among diabetes patients than healthy age matched peers. This result can be partially explained by hormonal signaling changes, such as blood clotting and abnormal pancreas functioning.
In nondemented older persons, executive function is independently associated with tasks of lower extremity function that require high attentional demand.
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