Publications by authors named "M A Bothwell"

Purpose: To investigate the utility of a 15-minute online module to improve the self-confidence and knowledge of neurology trainees when screening an EEG.

Methods: We developed a fast, convenient, and accessible 15-minute online module to teach basic concepts of EEG screening using a five-step approach. To assess the efficacy of the module among neurology trainees, three surveys were developed.

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Article Synopsis
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the degeneration of motor neurons, and recent research indicates that inflammation-triggered upregulation of the p53 protein is linked to ALS in both familial and sporadic cases.
  • The study shows that treatment with interferon-gamma (IFNγ) leads to severe aggregation of the TDP-43 protein in motor neurons, activating the p53 pathway and causing neuronal dysfunction.
  • Additionally, IFNγ exposure increases expression of programmed death-ligand 1 (PD-L1) in motor neurons, potentially contributing to ALS progression, and the findings point to possible immunotherapeutic targets for treating sporadic ALS.
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During protein synthesis, aminoacyl-tRNA synthetases covalently link amino acids with their cognate tRNAs. Amino acid mutations in glycyl-tRNA synthetase can disrupt protein synthesis and lead to a neurological disorder known as Charcot-Marie-Tooth disease type 2D (CMT-2D). Several studies employing diverse techniques have identified potential disease mechanisms at the molecular level.

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Charcot-Marie-Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutations in the gene encoding glycyl-tRNA synthetase (GARS1). Here, human induced pluripotent stem cell (hiPSC)-based models of CMT2D bearing mutations in GARS1 and their use for the identification of predictive biomarkers amenable to therapeutic efficacy screening is described. Cultures containing spinal cord motor neurons generated from this line exhibit network activity marked by significant deficiencies in spontaneous action potential firing and burst fire behavior.

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