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    The Association of Hereditary Prothrombotic Risk Factors with ST-Elevation Myocardial Infarction
    (2020) Damar, Ibrahim Halil; Eröz, Recep
    Objective: The ST- elevation myocardial infarction (STEMI), a serious health care problem, iscommonly a thrombotic complication of coronary artery disease. We compare the STEMI patients and control group in terms of the possible causes of inherited thrombophilia includingFactorV Cambridge G1091C, FactorV Leiden G1691A, MTHFRC677T, MTHFR A1298C, FactorIIG20210A, Factor XIII (V34L), PAI-1, FGB, ITGB3, APOB, FVHR2, ACE gene variants.Methods: Fifty-three patients with STEMI and 47 individuals without diagnosis of acute coronarysyndrome were included in the study. Percutaneous coronary intervention was performed forpatients with STEMI. Echocardiography was performed and inherited thrombophilia genes wereevaluated in all subjects.Results: The MTHFR A1298C, Factor XIII (V34L), ITGB, ACE and homozygous or compoundheterozygous gene varations of inherited thrombophilia are significantly related with STEMI(p<0.05). Also significantly higher MTHFR A1298C, FactorV Leiden G1691A, PAI and ACE genevariations in MI patients who were smokers; Factor XIII (V34L), PAI and ACE gene variations inMI patients with HT; PAI and ACE gene variation in MI patients with FH and PAI gene variationsin MI patients with HL were detected when compared with the control groups with all of thesame risk factors (p<0.05).Conclusion: Hereditary thrombophilia factors may show promise in the prevention and management of STEMI when supported studies with larger case series.
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    Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems?
    (Kuwait Medical Assoc, 2021) Damar, Ibrahim Halil; Eroz, Recep
    Objectives: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive autoinflammatory genetic disorder. One of the important complications of FMF is cardiac disorder. We aimed to research the evaluation of cardiological parameters in FMF cases who had chest pain and MEFV gene variant. Design: Experimental study Setting: This study was conducted at Department of Cardiology and Medical Genetics of Duzce University, Turkey. Subject: Totally, thirty-four individuals with recurrent sharp retrosternal chest pain that exacerbate with deep inspiration and clinically diagnosed as FMF and at least one variant on MEFV gene were included in the study. Interventions: Physical and cardiological evaluation were performed and MEFV gene sequenced for each case. Main outcome measures: To determine if the chest pain is caused by cardiac problems or derived from other problems such as tendonitis, myalgia, etc. in cases with FMF Result: Seven cases (20.5%) had previous history of pericarditis. Two of these cases had small pericardial effusion and one had pericardial thickness. All three were adults. Also, one case (2.9%) had aortic regurgitation, eight cases (23.5%) had mitral regurgitation, thirteen cases (38.2%) had tricuspid regurgitation and one case (2.9%) had pulmonary regurgitation. Valvular disease is seen in over half of the cases. Conclusions: We concluded that cases with FMF who had chest pain and at least one MEFV gene variant have increased risk for cardiac problems. These cases should be routinely followed up life long for cardiac problems.
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    Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk
    (2019) Damar, Ibrahim Halil; Eröz, Recep
    Objective: Myotonia Congenita (MC) is a hereditary neuromuscular disorder caused by a muta-tion in chloride voltage-gated channel 1 (CLCN1) gene. The incidence of MC is estimated as 1 in 100.000. The absence of left main coronary artery (LMCA) is a rare coronary anomaly. Here we present a family with four members who have MC variation carrier and cardiovascular risk.Method: The demographic features, laboratory findings, anthropometric measurements and car-diological examination of the cases were recorded. In addition, CLCN1 gene was sequenced by NGS (Next Generation Sequencing Method) and possible causes of inherited thrombophilia risk including MTHFR (A1298C), Factor V Leiden (G1691A), Factor II (G20210A), MTHFR (C677T), Factor V Cambridge (G1091C), plasminogen activator inhibitor 1 (PAI-1) 4G/5G, APOE, APOB, ITGB, ACE (ins/del), FVHR2 and FGB gene alterations were evaluated.Results: Case 1 had homozygous c.1886T>C (p.Leu629Pro) alteration in CLCN1 gene and also coronary artery disease, myocardial infarction (MI) history, hyperlipidemia, primary hyperten-sion, vertigo, lomber disc herniation and hearing loss. LMCA was not detected in coronary angiography in Case 1. Cases 2, 3 and 4 had heterozygous c.1886T>C (p.Leu629Pro) altera-tion with normal electrocardiographic and echocardiographic findings. Additionally, all of family members had genetic risk factors for the related gene, which lead to an increased risk of cardio-vascular disease.Conclusion: Since alteration of chloride channels in cardiomyocytes leads to variable myocardial involvement, cases with MC should be regularly followed for cardiovascular risk. Moreover, the cases with MC and with genetic profile associated with high cardiovascular risk should also be regularly followed up by cardiologists.
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    Frequency of Hereditary Prothrombotic Risk Factors in Patients with Down Syndrome
    (2021) Damar, Ibrahim Halil; Eröz, Recep; Kılıçaslan, Önder
    Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, Factor V Leiden G1691A, Factor V Cambridge G1091C, Factor XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 and ACE) in patients with DS.Methods: A total of 53 patients with DS (32 male and 21 female) were included in the study. Demographical, laboratory and clinical features of cases were recorded. 12-lead Electrocardiogram (ECG), transthoracic echocardiography and the inherited thrombophilia genes were evaluated.Results: The clinical and developmental defect findings of the patients were high. The 39.6% of patients had both heterozygous MTHFR C677T and heterozygous MTHFR A1298C carriers, the 18.9% of patients had homozygous MTHFR A1298C carriers, the 17% of patients had heterozygous Factor V Leiden G1691A carriers, the 43.4% of patients had 4G/4G carriers, the 34% of patients had 4G/5G variation carriers for PAI, the 22.7% of patients had heterozygous FactorXIII carriers, the 49.1% of patients had ins/del carriers and the 37.7% of patients had del/del variation carriers for ACE. All patients had at least one of the homozygous and/or compound heterozygous variation for the inherited thrombophilia. Conclusions: The patients with DS have a high risk for thrombosis-related cardiovascular system diseases. It may be said that the average life expectancy of individuals with DS may be increased by precautions (related to medical, social,lifestyle, etc.) to reduce complications associated with hereditary thrombophilia.
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    May Argyrophilic Nucleolar Organizer Regions be the New Marker of a Hypoxic Response in Non ST Elevation Myocardial Infarction?
    (Duzce Univ, Fac Medicine, 2022) Damar, Ibrahim Halil; Eroz, Recep
    Objective: Non-ST elevation myocardial infarction (NSTEMI) is a type of acute coronary syndrome and its' incidence is similarly high to ST-elevation myocardial infarction. Nucleolar organizing regions (NORs) are located of the secondary structure of acrocentric chromosome and composed of proteins and ribosomal DNA (rDNA) some of which are argyrophilic. We aimed to investigate the change of AgNOR proteins, which increase in hypoxia, in patients with NSTEMI. Methods: A total of 125 participants, 63 patients with NSTEMI and 62 volunteers without any acute coronary syndrome were included in the study. Echocardiography was performed and both mean AgNOR Number and total AgNOR area/total nuclear area (TAA/TNA) were detected for each individuals. Results: The mean AgNOR number and TAA/TNA ratio were significantly higher in the NSTEMI group than control (p<0.001). Also, statistically significant relations between TAA/TNA and all of creatinine, hemoglobin, WBC(mu l/ml), monocyte, neutrophil, neutrophil /lymphocyte ratio, monocyte/lymphocyte ratio were detected (p<0.05 for all). Also, statistically significant relations between mean AgNOR number and all of fasting blood sugar, HDL, WBC(mu l/ml), monocyte, neutrophil, EF were detected (p<0.001). Conclusions: Both AgNOR protein amounts may be used as a marker for NSTEMI. It may also contribute to the prediction of the outcomes by providing some prognostic information in NSTEMI.
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    The Role of Macrophages in Atherosclerosis: An Overview
    (Erciyes Univ Sch Medicine, 2021) Damar, Ibrahim Halil; Eroz, Recep
    Knowlege of the mechanism of atherosclerosis in chronic and inflammatory diseases is important in health care management. According to the World Health Organization, approximately 17.9 million people die from atherosclerosis annually. Macrophages played a major role in the immune response and pathophysiology of atherosclerosis. This review presents the role of macrophage in the development of atherosclerosis.