Publications by authors named "Randy Osei"
Article Synopsis
- - The study examined 500 patients with Brugada syndrome (BrS) to evaluate the genetic variants' presence and their relation to prognosis, discovering that about 20.8% had pathogenic variants in the SCN5A gene, which indicate a worse outcome.
- - Of the patients analyzed, 75 were found to have a gene variant, with the majority being missense variants; however, those without any genetic variants showed better protection against ventricular arrhythmias (VA).
- - The findings concluded that carrying a predicted loss of function variant—either in the SCN5A gene or other related genes—was a significant factor in predicting the likelihood of experiencing VA.
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter Study.
JACC Clin Electrophysiol
August 2023
Background: Different genes have been associated with idiopathic ventricular fibrillation (IVF); however, there are no studies correlating genotype with phenotype.
Objectives: The aim of this study was to define the genetic background of probands with IVF using large gene panel analysis and to correlate genetics with long-term clinical outcomes.
Methods: All consecutive probands with a diagnosis of IVF were included in a multicenter retrospective study.
Article Synopsis
- A study aimed to evaluate the effectiveness and outcomes of SCN5A gene testing in pediatric patients with Brugada syndrome (BrS) compared to adults, focusing on the presence of pathogenic variants.
- The research included 500 patients diagnosed with BrS over 30 years, revealing that 46% of the children tested positive for pathogenic variants, which was associated with a higher risk of ventricular arrhythmias (VAs).
- Ultimately, the study concluded that while 46% of pediatric patients have pathogenic variants, those who did showed a worse prognosis for arrhythmias compared to those without, with similar outcomes for both pediatric and adult patients regardless of their variant status.
Motivation: Intragenic exonic deletions are known to contribute to genetic diseases and are often flanked by regions of homology.
Results: In order to get a more clear view of these interspersed repeats encompassing a coding sequence, we have developed EDIR (Exome Database of Interspersed Repeats) which contains the positions of these structures within the human exome. EDIR has been calculated by an inductive strategy, rather than by a brute force approach and can be queried through an R/Bioconductor package or a web interface allowing the per-gene rapid extraction of homology-flanked sequences throughout the exome.