Publications by authors named "A Kurtovic-Kozaric"
Accurate variant classification is critical for genetic diagnosis. Variants without clear classification, known as "variants of uncertain significance" (VUS), pose a significant diagnostic challenge. This study examines AlphaMissense performance in variant classification, specifically for VUS.
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- The study focuses on PLA2G6-associated neurodegeneration (PLAN), which includes three diseases with similar symptoms, particularly highlighting infantile neuroaxonal dystrophy (INAD), a condition that affects vision and motor skills from an early age.
- Researchers estimated the genetic prevalence of PLAN using two approaches: collecting genetic variant data from various databases and analyzing literature to find additional relevant variants. They determined that the estimated prevalence ranges from 1 in 987,267 to 1 in 1,570,079 pregnancies.
- The findings indicate a significant underdiagnosis of PLAN and suggest a higher presence of PLA2G6 variants in African and Asian populations, emphasizing the need for better diagnostic efforts
Clinical trials in Bosnia and Herzegovina: Challenges and future perspectives.
Contemp Clin Trials Commun
August 2022
Background: Clinical trials (CTs) are research investigations in which participants receive medical treatments, interventions, or tests to assess their safety and efficacy. Each planned clinical is registered through local or national medical agencies, which may differ in the amount of administrative and legal procedures. The objective of this study was to systematically analyze the registration process for clinical trials in Bosnia and Herzegovina in comparison to other Balkan countries.
View Article and Find Full Text PDFBackground: Bosnia and Herzegovina is among ten countries in the world with the highest mortality rate due to COVID-19. Lack of lockdown, open borders, high mortality rate, no vaccination plan, and strong domestic anti-vaccination movement present serious COVID-19 concerns in Bosnia and Herzegovina. In such circumstances, we set out to study 1) the willingness of general public to receive the vaccine, 2) factors that affect vaccine rejection, and 3) motivation for vaccine acceptance.
View Article and Find Full Text PDFHere we describe the major genetic and genomic aberrations found in myeloid malignancies and how those markers are used in patients' diagnosis, prognosis, and targeted treatment. In Bosnia and Herzegovina, cytogenetic and molecular diagnostics for myeloid malignancies have been established and continually improved since 2005. We report the current state of available diagnostic tools for myeloid malignancies in Bosnia and Herzegovina.
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