Translational Medical Research Commons^™

Epigenetic Alterations Mediate Ipsc Normalization Of Dna-Repair Expression And Tnr Stability In Huntington's Disease, Peter A. Mollica, Martina Zamponi, John Reid, Deepak Sharma, Alyson E. White, Roy C. Ogle, Robert D. Bruno, Patrick C. Sachs

School of Medical Diagnostics & Translational Sciences Faculty Publications

Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat (TNR) expansion within the HTT gene. The mechanisms underlying HD-associated cellular dysfunction in pluripotency and neurodevelopment are poorly understood. We had previously identified downregulation of selected DNA repair genes in HD fibroblasts relative to wild-type fibroblasts, as a result of promoter hypermethylation. Here, we tested the hypothesis that hypomethylation during cellular reprogramming to the induced pluripotent stem cell (iPSC) state leads to upregulation of DNA repair genes and stabilization of TNRs in HD cells. We sought to determine how the HD TNR region …

Effect Of A Clinical Evidence Technology On Patient Skin Disease Outcomes In Primary Care: A Cluster-Randomized Controlled Trial, Marianne Burke, Benjamin Littenberg Md

University Libraries Faculty and Staff Publications

Objective: Providers’ use of clinical evidence technologies (CETs) improves their diagnosis and treatment decisions. Despite these benefits, few studies have evaluated the impact of CETs on patient outcomes. Investigators evaluated the effect of one CET, VisualDx, on skin problem outcomes in primary care.

Methods: The cluster-randomized controlled pragmatic trial was set in outpatient clinics at an academic medical center in the Northeast. Participants were Primary Care Providers (PCPs) and adult patients seen for skin problems. The intervention was VisualDx as used by PCPs. Outcomes were patient-reported time from index clinic visit to problem resolution, and the number of …