Publications by authors named "A A Dameron"
Introduction: The History, Electrocardiogram, and Troponin (HET) score is a simplified alternative to the HEART score for risk stratifying emergency department (ED) patients with chest pain. This study evaluates the safety and efficacy of the HET score for 30-day cardiac death or myocardial infarction (MI).
Methods: We conducted a secondary analysis of the STOP-CP multisite cohort study.
Article Synopsis
- The development of all-solid-state lithium batteries (ASSLBs) faces challenges in lowering fabrication costs without losing performance.* -
- A new sulfide ASSLB features a Co-free LiNiO cathode with a unique LiAlZnO protective layer that enhances stability and reduces undesirable reactions at the electrolyte interface.* -
- This innovative approach results in impressive performance metrics, including high capacity, cycling stability, and insights on avoiding the use of costly materials while maintaining energy efficiency.*
Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We investigated a cohort of 28 new patients and reviewed previously described cases, providing a comprehensive characterization of 40 subjects.
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- This study investigates the role of high-impact genetic variants in over a thousand genes linked to Mendelian neurodevelopmental disorders (NDD) by characterizing 28 probands with de novo heterozygous coding variants.
- Among the identified variants, 15 unique changes were found, including missense, in-frame deletions, and a splice variant, affecting the Argonaute 1 protein involved in gene-silencing pathways, which suggests these mutations may disrupt mRNA processing.
- The affected individuals exhibited a range of symptoms, such as intellectual disabilities, speech and motor delays, and autistic behaviors, highlighting the potential significance of these genetic variants in understanding NDD.
KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations, including corpus callosum agenesis (ACC) and microcephaly. We demonstrate, in vivo, that the expression of KIF21B missense variants specifically recapitulates patients' neurodevelopmental abnormalities, including microcephaly and reduced intra- and inter-hemispheric connectivity.
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