Program in Neurosciences and Mental Health

Anderson, United States

Program in Neurosciences and Mental Health

Anderson, United States
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Pederson B.A.,Ball State University | Turnbull J.,Program in Genetics and Genome Biology | Epp J.R.,Program in Neurosciences and Mental Health | Weaver S.A.,Ball State University | And 8 more authors.
Annals of Neurology | Year: 2013

Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by inhibiting glycogen synthesis and whether they are pathogenic remain uncertain. We genetically eliminated brain glycogen synthesis in LD mice. This resulted in long-term prevention of LB formation, neurodegeneration, and seizure susceptibility. This study establishes that glycogen synthesis is requisite for LB formation and that LBs are pathogenic. It opens a therapeutic window for potential treatments in LD with known and future small molecule inhibitors of glycogen synthesis. © 2013 American Neurological Association.


Lei S.,Program in Neurosciences and Mental Health | Lam W.-C.,University of Toronto
Canadian Journal of Ophthalmology | Year: 2015

Objective To evaluate the efficacy and safety of dexamethasone (DEX) intravitreal implant (Ozurdex) in pediatric patients with cystoid macular edema (CME) refractory to conventional treatment. Design This study is a retrospective chart review. Participants Four pediatric patients (5 eyes) with CME caused by uveitis, type I idiopathic macular telangiectasia (IMT), or Coats disease treated with DEX intravitreal implant. Methods Medical records of the 4 pediatric patients (5 eyes) with CME included in this study were reviewed. Data collected included details of the underlying diseases, treatments, and pretreatment and post-treatment central retinal thickness (CRT) measured by time-domain optical coherence tomography, visual acuity (VA), intraocular pressure (IOP), and lens status. The median follow-up time was 65 weeks (range, 59-93 weeks). Results Fifteen DEX intravitreal implants were injected into 5 eyes over the follow-up period. Reduction of CME was achieved in all eyes within 12 weeks after the initial injection. VA improved in 4 eyes and was unchanged in 1 eye at 12 weeks; VA improved in 2 eyes, decreased in 2 eyes, and was unchanged in 1 eye at 52 weeks. Three of 5 eyes experienced IOP elevation ≥10 mm Hg during the follow-up period. IOP was ultimately controlled medically in all eyes. Significant lens opacification was documented in 2 eyes. Conclusions DEX intravitreal implant can be considered as an effective adjunctive off-label treatment to pediatric macular edema caused by uveitis or IMT/Coats disease; the safety profile of repeated treatment is acceptable. © 2015 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved.


PubMed | University of Toronto and Program in Neurosciences and Mental Health
Type: Journal Article | Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | Year: 2015

To evaluate the efficacy and safety of dexamethasone (DEX) intravitreal implant (Ozurdex) in pediatric patients with cystoid macular edema (CME) refractory to conventional treatment.This study is a retrospective chart review.Four pediatric patients (5 eyes) with CME caused by uveitis, type I idiopathic macular telangiectasia (IMT), or Coats disease treated with DEX intravitreal implant.Medical records of the 4 pediatric patients (5 eyes) with CME included in this study were reviewed. Data collected included details of the underlying diseases, treatments, and pretreatment and post-treatment central retinal thickness (CRT) measured by time-domain optical coherence tomography, visual acuity (VA), intraocular pressure (IOP), and lens status. The median follow-up time was 65 weeks (range, 59-93 weeks).Fifteen DEX intravitreal implants were injected into 5 eyes over the follow-up period. Reduction of CME was achieved in all eyes within 12 weeks after the initial injection. VA improved in 4 eyes and was unchanged in 1 eye at 12 weeks; VA improved in 2 eyes, decreased in 2 eyes, and was unchanged in 1 eye at 52 weeks. Three of 5 eyes experienced IOP elevation 10 mm Hg during the follow-up period. IOP was ultimately controlled medically in all eyes. Significant lens opacification was documented in 2 eyes.DEX intravitreal implant can be considered as an effective adjunctive off-label treatment to pediatric macular edema caused by uveitis or IMT/Coats disease; the safety profile of repeated treatment is acceptable.

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