Publications by authors named "Mahmut Akyol"
Aim: To investigate the association of serum glucocorticoid kinase gene-1 (SGK-1) DNA variants with chronic central serous chorioretinopathy (CSC).
Methods: We enrolled 32 eyes of 32 patients who were diagnosed with chronic CSC and composed 32 normal eyes as a control group. Peripheral blood was used for DNA extraction and polymerase chain reaction (PCR) amplification.
Objective: The aim of this study was to investigate whether there is a role of the serum glucocorticoid kinase (SGK) 1 gene, which has an effect on the control of the epithelial sodium channels.
Materials And Method: This study included patients who were diagnosed with transient tachypnea of the newborn (TTN) with more than 37 weeks of gestation. As the control group, healthy newborns of the same gestational age were included.
Keratoconus presenting with bilateral simultaneous acute corneal hydrops.
Cont Lens Anterior Eye
April 2013
Purpose: To report a case of unknown keratoconus presenting with bilateral simultaneous acute corneal hydrops.
Methods: Case report.
Results: A case of a 12-year-old male patient with Leber congenital amaurosis (LCA) presented with sudden whitening and lacrimation for 2 days in both eyes simultaneously.
Background: Sleep is an active and complex behavior, yet it has two straightforward properties-timing and duration. Clock genes are associated with dysfunctional timing of sleep, mood, and obesity disorders, which are commonly associated with sleep duration.
Methods: Sleep duration was assessed in Central Europe, Estonia, and South Tyrol (n approximately 77,000) with the Munich ChronoType Questionnaire.
Aims: Atrial fibrillation (AF) is the most frequent arrhythmia in humans. Rare familial forms exist. Recent evidence indicates a genetic susceptibility to common forms of AF.
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- The study aimed to investigate the relationship between the G38S variant in the KCNE1 gene and QT interval prolongation, which can lead to increased risk of sudden death.
- Researchers analyzed a group of 3,966 individuals from central Europe, finding no significant association between the G38S variant and QT interval in the overall sample or by gender.
- The conclusion suggests that, unlike another known variant, G38S may not significantly affect QT intervals, but its potential impact in different ethnic groups or under specific conditions can't be entirely dismissed.
Extremes of the electrocardiographic QT interval, a measure of cardiac repolarization, are associated with increased cardiovascular mortality. We identified a common genetic variant influencing this quantitative trait through a genome-wide association study on 200 subjects at the extremes of a population-based QT interval distribution of 3,966 subjects from the KORA cohort in Germany, with follow-up screening of selected markers in the remainder of the cohort. We validated statistically significant findings in two independent samples of 2,646 subjects from Germany and 1,805 subjects from the US Framingham Heart Study.
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- Altered myocardial repolarization plays a crucial role in conditions like ventricular tachycardia and fibrillation, with rare gene variants impacting this process in familial long QT syndrome.
- A study was conducted on common gene variants affecting the QT interval by analyzing 174 SNPs across four candidate genes, involving 3,966 individuals from the KORA study, leading to the identification of significant associations in the KCNQ1, KCNE1, and KCNH2 genes.
- The findings revealed a 10.5 ms difference in QT interval length related to these gene variants, supporting the idea that repolarization is a heritable trait and highlighting the importance of high-resolution SNP