Ruth Ann Marrie September 13, 2019

Multiple Sclerosis Journal, Ahead of Print.
Background:Although multiple sclerosis (MS) confers an elevated risk of acute myocardial infarction (AMI), little is known about how it influences management of AMI.Methods:Using population-based administrative (health) data from two Canadian provinces, we conducted a retrospective matched cohort study.… Read More...

Marcus W Koch September 13, 2019

Multiple Sclerosis Journal, Ahead of Print.
Background:Still too little is known about the natural history of clinical outcome measures beyond the Expanded Disability Status Scale (EDSS), such as the timed 25-foot walk (T25FW) and nine-hole peg test (9HPT) in secondary progressive multiple sclerosis (SPMS).Objective:To describe progression on the EDSS, T25FW, 9HPT, and their combinations.… Read More...

admin September 13, 2019

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology.

Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs).… Read More...

admin September 13, 2019

Purpose: High dose monotherapies or drug combinations are used to achieve sufficient analgesia for the treatment of severe chronic low back pain, before invasive therapy options are considered. In order to demonstrate an alternative for an empirical treatment approach, the authors’ primary aim was to present an algorithm for the objective identification of treatment predictors.… Read More...

admin September 13, 2019

Background: The presence of brain amyloid-beta positivity is associated with cognitive impairment and dementia, but whether there are specific aspects of cognition that are most linked to amyloid-beta is unclear. Analysis of neuropsychological test data presents challenges since a single test often requires drawing upon multiple cognitive functions to perform well.… Read More...

admin September 13, 2019

The social and financial burden of stroke is remarkable. Stroke is a leading cause of death and long-term disability worldwide. For several years, intravenous recombinant tissue plasminogen activator (IV rt-PA) remained as the only proven therapy for acute ischemic stroke. However, its benefit is hampered by a narrow therapeutic window and limited efficacy for large vessel occlusion (LVO) strokes.… Read More...

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Monique M. Ryan, Russell J. Butterfield, Haluk Topaloglu, Tawfeg Ben-Omran, Valeria A. Sansone, Yuh-Jyh Jong, Francy Shu, John F. Staropoli, Douglas Kerr, Alfred W. Sandrock, Christopher Stebbins, Marco Petrillo, Gabriel Braley, Kristina Johnson, Richard Foster, Sarah Gheuens, Ishir Bhan, Sandra P. Reyna, Stephanie Fradette, Wildon Farwell, NURTURE Study Group September 13, 2019

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease associated with progressive and often severe muscle weakness and atrophy and is a leading cause of death in infants [1-4]. SMA is caused by homozygous deletions (∼95% of SMA patients) or compound heterozygous mutations (∼5% of SMA patients) in the survival motor neuron 1 (SMN1) gene that prevent production of full-length functional SMN protein.[5] The paralogous gene SMN2 undergoes aberrant splicing and produces mostly truncated, dysfunctional protein (∼90%) [1].… Read More...

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