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    Association between non-coding polymorphisms of HOPX gene and syncope in hypertrophic cardiomyopathy
    (TURKISH SOC CARDIOLOGY, 2014-01-01) Gulec, Cagri; Abaci, Neslihan; Bayrak, Fatih; Bayrak, Evrim Kourcu; Kahveci, Gokhan; Guven, Celal; Unaltuna, Nihan Erginel
    Objective: Homeodomain Only Protein X (HOPX) is an unusual homeodomain protein which regulates Serum Response Factor (SRF) dependent gene expression. Due to the regulatory role of HOPX on SRF activity and the regulatory role of SRF on cardiac hypertrophy, we aimed to investigate the relationship between HOPX gene variations and hypertrophic cardiomyopathy (HCM). Methods: In this study, designed as a case-control study, we analyzed coding and flanking non-coding regions of the HOPX gene through 67 patients with HCM and 31 healty subjects. Certain regions of the gene were investigated by Single Stranded Conformation Polymorphism (SSCP) and Restriction Fragment Length Polymorphism (RFLP). Statistical analyses of genotypes and their relationship with clinical parameters were performed by chi-square, Kruskal-Wallis and the Fisher's exact test. Results: In 5' Untranslated Region (UTR) and intronic region of the HOPX gene, we found a C>T substitution and an 8-bp insertion/deletion (In/Del) polymorphism, respectively. These two polymorphisms seemed to constitute an haplotype. While the frequency of homozygous genotypes of In/Del and C/T polymorphisms were found significantly lower in the patients with syncope (p=0.014 and p=0.017, respectively), frequency of their heterozygous genotypes were found significantly higher in the patients with syncope (p=0.048 and p=0.030, respectively). Conclusion: Though there was not found any mutation in coding sequence of HOPX gene, two non-coding polymorphisms were found related to syncope in HCM patients. While homozygous status of these polymorphisms was found to be protective against the syncope, their heterozygous status seemed to be a risk factor for syncope in HCM patients. Our results suggest that HOPX may contribute to pathogenesis or manifestation of HCM as a modifier gene.
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    Elective percutaneous coronary intervention leads to significant changes in serum resistin, leptin, and adiponectin levels regardless of periprocedural myocardial injury: an observational study
    (AVES, 2016-01-01) Buturak, Ali; Degirmencioglu, Aleks; Bayrak, Fatih; Kiris, Tuncay; Karakurt, Huseyin; Demir, Ali Riza; Surgit, Ozgur; Erturk, Mehmet
    Objective: Bioactive roles of adipokines in coronary atherosclerosis and acute coronary syndromes have been demonstrated previously. Ho-wever, there is a lack of data regarding the relationship between serum adipokines and periprocedural myocardial injury (PMI) following elective percutaneous coronary intervention (PCI). Therefore, we aimed to investigate the association between serum adipokines and PMI related to elective PCI. Methods: In total, 153 consecutive patients (aged 60.6 +/- 8.2 years, 98 men) with stable angina pectoris undergoing elective PCI were enrolled in this observational cross-sectional study. Serum resistin, leptin, adiponectin, and high-sensitive Troponin T (hscTnT) levels were measured immediately before PCI and after 12-h PCI. The no-injury, PMI, and type 4a myocardial infarction (type 4a MI) groups were defined as groups consisting patients with post-procedural hscTnT concentrations < 14 ng/L, between 14-70 ng/L, and > 70 ng/L, respectively. Results: Serum hscTnT, resistin, and leptin concentrations significantly (p<0.001) increased while serum adiponectin levels decreased (p<0.001) after 12-h elective PCI. However, no correlation was found between post-procedural hscTnT concentrations and resistin, leptin, and adiponectin levels. The no-injury group consisted of 65 patients (42.4\%), whereas PMI and type 4a MI were observed in 70 (45.8\%) and 18 (11.8\%) patients, respectively. The average pre-procedural and post-procedural resistin, leptin, and adiponectin levels did not show any significant difference in the no-injury, PMI, and type 4a MI groups. Conclusion: There is no correlation between serum adipokine levels and post-procedural troponin elevations reflecting PMI or type 4a MI. However, serum resistin and leptin levels increase, whereas adiponectin levels decrease significantly after elective PCI.
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    CONTRIBUTION OF SARCOMERIC GENE VARIANTS TO THE PREDICTION OF SUDDEN CARDIAC DEATH RISK IN FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
    (ISTANBUL UNIV, FAC MEDICINE, PUBL OFF, 2020-01-01) Bayrak, Evrim Komurcu; Geyik, Filiz Guclu; Kahveci, Gokhan; Bayrak, Fatih
    Objective: Hypertrophic cardiomyopathy (HCM) is one of sudden cardiac death (SCD) causes. This study aimed to identify high-risk pathogenic variants for SCD in the three sarcomeric genes with the most frequent mutations in HCM. Material and Method: The study included 12 adult HCM index cases with a family history of SCD and/or HCM, and 31 of their family members. All the participants were evaluated with detailed cardiac examinations. The exonic regions of the MYH7, MYBPC3 and TNNT2 genes were analysed using CorTAG HCM1 resequencing arrays. Results: Six pathogenic variants causing amino acid substitutions were found in 8 of the index cases with HCM. Five of them were identified as previously defined missense variants of Val698Ala, Arg719Trp, Met822Leu and Arg663Cys (in three cases) in the MYH7 gene, and Arg102Trp in the TNNT2 gene. For the first time in an HCM family with a history of late-onset SCD, Tyr525Asn and c.{*}27-21G> A variants in the MYBPC3 gene were identified as compound heterozygous. These variants were not present in control subjects (n=777) from the Turkish population. Conclusion: In this study, novel variants in the MYBPC3 gene were identified in an HCM family with SCD history. However, there was no clear association between pathogenic variants and the risk of SCD.
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    Hybrid synchronous treatment of two separate cardiovascular pathologies: Coronary artery bypass grafting and endovascular aortic replacement
    (BAYCINAR MEDICAL PUBL-BAYCINAR TIBBI YAYINCILIK, 2018-01-01) Anturk, Cem; Bayrak, Fatih; Okten, Eyup Murat; Erdemli, Ozcan; Karabulut, Hasan
    Coronary artery disease and abdominal aortic aneurysm may frequently be together, particularly in elderly patients. Treatment strategies should be tailored according to the needs and specific properties of each patient. Hybrid synchronous procedures may be a choice of therapy in these patients, as well as staged procedures. Herein, we present the first hybrid synchronous case of Turkey to treat two separate cardiovascular pathologies.