18 research outputs found

    2021 State of the Library

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    Nicole Branch, Co-Interim University Librarian and Associate University Librarian for Learning & Engagement Lev Rickards, Co-Interim University Librarian and Associate University Librarian for Collections & Scholarly Communication ◼ Strategic Plan 2021-2024 ◼ Budget ◼ Staffing ◼ Library Response to 2020-2021 Conditions ◼ Collections ◼ Librarians and Library Staff Scholar

    2023 State of the Library

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    ◼ Nicole Branch, University Library Dean Strategic Activities Budget Staffing Highlights from the Units ◼ Melanie Sellar, Assistant Dean, Learning & Engagement Instruction Research & Student Support Outreach & Programming Access & Delivery Services Learning Common Space ◼ Lev Rickards, Assistant Dean, Collections & Scholarly Communication Acquisitions Budget Major software migration Open Educational Resources Grant ◼ Spotlight Challenges to material

    2019 State of the Library

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    Agenda Jennifer Nutefall, University Librarian Budget & Library staffing Space changes Open Access & Social Justice Lev Rickards, Associate University Librarian for Collections and Scholarly Communication Support for Open Access Allocating the Collections & Access Budget Archives & Special Collections Nicole Branch, Associate University Librarian for Learning and Engagement Assessment Projects New Initiatives Instructio

    2020 State of the Library

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    Jennifer Nutefall, University Librarian Budget & Library staffing Mission, Vision, Values Lev Rickards, Associate University Librarian for Collections and Scholarly Communication Scholarly Communication & Open Access Archives & Special Collections Nicole Branch, Associate University Librarian for Learning and Engagement Instruction & Assessment Space & Acces

    2024 State of the Library

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    ◼ Nicole Branch, University Library Dean Strategic Activities Budget Staffing Highlights from the Units ◼ Melanie Sellar, Assistant Dean, Learning & Engagement Instruction Research & Student Support Outreach & Programming Access & Delivery Services Learning Commons Space ◼ Lev Rickards, Assistant Dean, Collections & Scholarly Communication Stewarding the Library acquisitions budget Transformative agreements Folio Archives & Special Collections ◼ Spotlight ◼ Staff Appreciations ◼ Questions & Discussio

    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

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    Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

    Efficacy, Safety and Tolerability of AFQ056 for the treatment of chorea in patients with Huntington’s disease

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    OBJECTIVE To assess the anti-choreatic efficacy, safety and tolerability of AFQ056 in Huntington’s disease (HD). BACKGROUND HD is characterised by involuntary choreatic movements. Treatments of chorea have limited efficacy and side effects. AFQ056, a selective metabotropic glutamate-receptor-5 antagonist shown to reduce levodopa-induced dyskinesia in Parkinson’s disease, was hypothesized to reduce chorea in HD. DESIGN/METHODS 32-day, randomized, double-blind, parallel-group, placebo-controlled, proof-of-concept study. Patients were 30–85 years, with HD (CAG≥36) in clinical stage I–III, and a Unified HD Rating Scale-Total Motor Score (UHDRS-TMS) maximal chorea sum score >10. Patients were randomized (1:1) to AFQ056 (Days 1–12, titration from 25mg to 150mg twice-daily [bid]; Days 13–28, maintenance [150mg bid]; Days 29–32, down-titration [50 mg bid]) or placebo. Primary objectives were to assess the efficacy of AFQ056 versus placebo at Day 28 on the UHDRS-TMS maximal chorea sum score and the orientation index (non-dominant hand) from the quantitative-motor (Q-Motor) grasping task; and to evaluate safety and tolerability of AFQ056. Key secondary efficacy assessments included total UHDRS-TMS, UHDRS-TMS luria score, UHDRS-TMS finger taps, and additional Q-Motor measures. RESULTS 42 patients (mean age 55.2 years, HD duration 6.6 years) were randomized. At Day 28, there were no significant improvements on the UHDRS-TMS maximal chorea sum score (p=0.155) or orientation index (non-dominant hand, p=0.626) in AFQ056-treated patients versus placebo. A significant reduction in Q-Motor speeded-tapping variability was observed favouring AFQ056 versus placebo and reverting at study end ; this was accompanied by UHDRS-TMS finger-tapping scores exhibiting a trend towards improvement. No significant treatment effects were observed at Day 28 on other key secondary assessments. CONCLUSIONS AFQ056 did not reduce involuntary choreatic movements in HD. The Q-Motor finding in speeded-tapping may reflect an improvement in fine motor coordination, but the clinical relevance of this observation is unknown. Overall, AFQ056 was well-tolerated in HD

    Rochester Regional Health Orthopedic Infection Prevention Symposium, 2023

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    RRH Orthopedic Infection Prevention Symposium, April 22, 2023. Introduction/Scope of the Problem/The IP Bundle, M. Gordon Whitbeck, Jr., MD NYS/NHSN Infection Definitions, Jennifer James, RN, BSN, CIC Patient Selection and Optimization, Timothy Wagner, MD Pre-Op Education/Decolonization/Nutrition, Jodi Moore, RN Intraoperative Considerations, Rachel Wakefield, MS, RN and Christopher Jorstad, RN Antibotic Prophylaxis/Irrigation/Local Antibiotic Use - Arthroplasty, Sean Childs, MD Antibotic Use/Irrigation/Local Antibiotic Use - Spine, Christian P. DiPaola, MD Post-Op Wound Care/Floor Care, Nicole Rickards, RN Management of the Draining Wound/Intraop Culture Technique/Clean Fascial Closure, Jason Lipof, MD Panel Discussion, Drs. M. Klotz (Moderator), T. Wagner, J. Lipof, S. Childs, S. Rajamanickam, E. Weiss, N. Loffredo, C. DiPaola, M. Gordon Whitbeck, Jr. Closing Remarks/Proposal for Consensus, Michael Klotz, M

    A randomized, placebo‐controlled trial of AFQ056 for the treatment of chorea in Huntington's disease

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    Background This study investigated the hypothesis that AFQ056 (mavoglurant), a selective metabotropic glutamate receptor 5 antagonist, reduces chorea in Huntington's disease (HD). Methods This 32-day randomized, double-blind, parallel-group, proof-of-concept study investigated AFQ056 (25-150 mg [incremental doses], twice-daily) versus placebo in patients with HD. Primary efficacy assessments were the chorea-sum score and orientation index (nondominant hand) from the quantitative motor (Q-Motor) grasping task at day 28. Key secondary efficacy assessments included finger-tapping in the Unified Huntington's Disease Rating Scale–Total Motor Score and Q-Motor measures. Safety and tolerability were assessed. Results Overall, 42 patients were randomized. At day 28, no improvement was observed on the primary efficacy assessments (P > 0.10) with AFQ056 versus placebo. The Q-Motor speeded-tapping interonset interval variability was reduced with AFQ056 versus placebo for the nondominant hand (P = 0.01). The incidence of adverse events was 66.7% with AFQ056 and 57.1% with placebo. Conclusions AFQ056 did not reduce choreatic movements in HD, but was well tolerated. The clinical relevance of the Q-Motor findings (speeded-tapping) are unknown and may warrant further investigation. © 2015 International Parkinson and Movement Disorder Societ

    A randomized, placebo-controlled trial of AFQ056 for the treatment of chorea in Huntington's disease

    No full text
    Background This study investigated the hypothesis that AFQ056 (mavoglurant), a selective metabotropic glutamate receptor 5 antagonist, reduces chorea in Huntington's disease (HD). Methods This 32-day randomized, double-blind, parallel-group, proof-of-concept study investigated AFQ056 (25-150 mg [incremental doses], twice-daily) versus placebo in patients with HD. Primary efficacy assessments were the chorea-sum score and orientation index (nondominant hand) from the quantitative motor (Q-Motor) grasping task at day 28. Key secondary efficacy assessments included finger-tapping in the Unified Huntington's Disease Rating Scale–Total Motor Score and Q-Motor measures. Safety and tolerability were assessed. Results Overall, 42 patients were randomized. At day 28, no improvement was observed on the primary efficacy assessments (P > 0.10) with AFQ056 versus placebo. The Q-Motor speeded-tapping interonset interval variability was reduced with AFQ056 versus placebo for the nondominant hand (P = 0.01). The incidence of adverse events was 66.7% with AFQ056 and 57.1% with placebo. Conclusions AFQ056 did not reduce choreatic movements in HD, but was well tolerated. The clinical relevance of the Q-Motor findings (speeded-tapping) are unknown and may warrant further investigation. © 2015 International Parkinson and Movement Disorder Societ
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