New Trends of Personalized Medicine in the Management of Abdominal Aortic Aneurysm: A Review.

Abdominal aortic aneurysm (AAA) is a significant vascular condition characterized by the dilation of the abdominal aorta, presenting a substantial risk of rupture and associated high mortality rates. Current management strategies primarily rely on aneurysm diameter and growth rates to predict rupture risk and determine the timing of surgical intervention. However, this approach has limitations, as ruptures can occur in smaller AAAs below surgical thresholds, and many large AAAs remain stable without intervention.

Integration of validated functional evidence to support the pathogenicity of variants.

Functional investigation of genetic variants found in long QT syndrome can provide evidence that is needed to confirm the genetic diagnosis and establish the cause of the condition. We performed functional assessment to determine the -score, using a clinically calibrated automated patch clamp assay, for 2 missense variants found in 2 families that have been diagnosed with long QT syndrome. These variants are currently classified as variant of uncertain significance in ClinVar.

The evaluation of video-assisted debriefing for improving performance in simulated medical student resuscitations.

Objectives: Simulation-based training is commonly used in medical education. However, there is a gap in knowledge regarding best practices in debriefing. We aimed to identify novel solutions to this by adapting video-assisted debriefing (VAD) methodologies used in athletic training.

Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve -LQTS Variant Classification and Cardiac Event Risk Stratification.

Background: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by . Variant classification is difficult, often because of lack of functional data. Moreover, variant-based risk stratification is also complicated by heterogenous clinical data and incomplete penetrance.