Publications by authors named "I Basar Aka"
Objectives: We aimed to classify genetic variants in RYR1 and CACNA1S associated with malignant hyperthermia using biobank genotyping data in patients exposed to triggering anesthetics without malignant hyperthermia phenotype.
Methods: We identified individuals who underwent surgery and were exposed to triggering anesthetics without malignant hyperthermia phenotype and who had RYR1 or CACNA1S genotyping data available in our biobank. We classified all variants in the cohort using a Bayesian framework of the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists guidelines for variant classification and updated the posterior probabilities from this model with the new information from our biobank cohort.
Article Synopsis
- Healthcare workers in Abidjan's university hospitals are at risk for vaccine-preventable diseases, prompting a study aimed at improving vaccination rates among them.
- A descriptive cross-sectional study surveyed 1,017 healthcare workers to assess their vaccination coverage and demographics, revealing a diverse group mostly made up of physicians with an average age of 36.
- Results showed low vaccination rates for various diseases, indicating the need for a comprehensive vaccination policy to enhance protection for healthcare workers.
Fontan Failure (FF) is a common problem for single-ventricle patients as they reach adulthood. Although several mechanisms may cause FF, an optimized blood flow stream through the surgical conduits is essential to avoid excessive energy loss (EL). Recent clinical studies showed EL is related to the quality of life, exercise capacity, and hepatic function since the single-ventricle feeds pulmonary and systemic circulation serially.
View Article and Find Full Text PDFArticle Synopsis
- Percutaneous pulmonary valve implantation (PPVI) is a minimally invasive method for treating severe pulmonary regurgitation in patients who have had tetralogy of Fallot repair, with the success relying on accurate valve sizing and performance.
- Custom-modified cardiovascular mock loops were utilized to test 3D-printed pulmonary artery models for five patients, assessing various valve sizes under different cardiac conditions to enhance PPVI planning.
- The experiments revealed that certain valve sizes in the mock models demonstrated improved hemodynamic performance compared to those actually implanted in two of the patients.
Motivation: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure.
View Article and Find Full Text PDF