Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.

Whole-exome DNA sequencing is a rich source of clinically useful information for specialists, patients, and their families, as well as elucidating the genetic basis of monogenic and complex diseases in clinical diagnosis. However, interpreting and reporting variants encompassing exome and genome sequence analysis outcome data are one of the greatest challenges of the genomic era. In this study, we aimed to investigate the frequency and allele frequency spectrum of single nucleotide variants accepted as recessive disease carrier status in Turkish Cypriot exomes.

Is there a difference between aortic and brachial vein blood lipoprotein and total cholesterol levels?

Objective: Atherosclerosis is a disease of the arteries that is not practically observed in veins. There are a lot of proposed mechanisms underlying this phenomenon. We aimed to compare the lipoprotein and total cholesterol levels in aortic and venous blood samples.

The non-negligible association between SYNTAX score and anxiety-depressive disorders.

Objective: Anxiety-depressive disorders are more common in patients with coronary artery disease (CAD) and are strongly associated with higher morbidity and mortality rates. The Hospital Anxiety and Depression Scale (HADS) is a wellvalidated diagnostic tool for screening of anxiety-depression disorders. The SYNTAX score (SS) is the angiographic scoring system and is commonly used to evaluate the severity and complexity of CAD.

In-Stent Late Thrombus in a Patient with Aortic Coarctation.

A 27-year-old man applied for routine control due to aortic coarctation stent. During routine control, a late in-stent thrombus was detected. The patient was asymptomatic.

Increased discharge heart rate might be associated with increased short-term mortality after acute coronary syndrome.

Background: In acute coronary syndrome (ACS) patients there are mostly studies evaluating prognostic value of admission heart rate. We tried to understand the prognostic value of discharge heart rate in a spectrum of ACS patients.

Methods: A total of 473 consecutive ACS patients were included in the study.