Argyrophilic Nucleolar Organizer Regions as New Biomarkers in ST-Elevation Myocardial Infarction

(1) Background: ST-elevation myocardial infarction (STEMI) is an inflammatory disease in which neutrophils, macrophages, and lymphocytes accumulate in the ischemic myocardium and have important functions. Nucleolar-organizing regions (NORs) are the site of the ribosomal genes composed of ribosomal DNA and proteins. We aimed to evaluate AgNOR proteins, which have never been studied in patients with STEMI in the literature. (2) Methods: A total of 140 participants (75 with STEMI and 65 volunteers without any diagnosis of acute coronary syndrome) were included in this study. Echocardiography was carried out, and mean AgNOR number and total AgNOR area/total nuclear area (TAA/TNA) were evaluated for all individuals. (3) Results: The mean AgNOR number and TAA/TNA ratio were significantly higher in the STEMI group than the control (p < 0.001). Statistically significant relations between both TAA/TNA ratio and mean AgNOR number and interventricular septal thickness, fasting blood sugar, creatinine, HDL, hemoglobin (g/dL), WBC (µL/mL), monocytes, neutrophils, and neutrophil/lymphocyte ratio were detected (p < 0.05). Moreover, a statistically significant relation between LDL (mg/dL) and mean AgNOR number (p = 0.005) was detected. (4) Conclusion: Both AgNOR protein amounts increase depending on the hypoxia that occurs in STEMI. The AgNOR proteins may thus be promising markers in STEMI

The Role of Macrophages in Atherosclerosis: An Overview

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.WOS:00061820740000

Argyrophilic nucleolar organizer regions as new biomarkers in ST-Elevation myocardial infarction

(1) Background: ST-elevation myocardial infarction (STEMI) is an inflammatory disease in which neutrophils, macrophages, and lymphocytes accumulate in the ischemic myocardium and have important functions. Nucleolar-organizing regions (NORs) are the site of the ribosomal genes composed of ribosomal DNA and proteins. We aimed to evaluate AgNOR proteins, which have never been studied in patients with STEMI in the literature. (2) Methods: A total of 140 participants (75 with STEMI and 65 volunteers without any diagnosis of acute coronary syndrome) were included in this study. Echocardiography was carried out, and mean AgNOR number and total AgNOR area/total nuclear area (TAA/TNA) were evaluated for all individuals. (3) Results: The mean AgNOR number and TAA/TNA ratio were significantly higher in the STEMI group than the control (p < 0.001). Statistically significant relations between both TAA/TNA ratio and mean AgNOR number and interventricular septal thickness, fasting blood sugar, creatinine, HDL, hemoglobin (g/dL), WBC (µL/mL), monocytes, neutrophils, and neutrophil/lymphocyte ratio were detected (p < 0.05). Moreover, a statistically significant relation between LDL (mg/dL) and mean AgNOR number (p = 0.005) was detected. (4) Conclusion: Both AgNOR protein amounts increase depending on the hypoxia that occurs in STEMI. The AgNOR proteins may thus be promising markers in STEMI

Miyotoni konjenitalı olguların kardiyovasküler risk açısından değerlendirilmesi

Objective: Myotonia Congenita (MC) is a hereditary neuromuscular disorder caused by a mutation 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 hypertension, 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) alteration 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 cardiovascular 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. © Copyright Istanbul Medeniyet University Faculty of Medicine

Cardiac Involvement in FMF Patients with New and Rare Mutations

WOS: 000487340900017Amaç: FMF ateş ve artritin eşlik ettiği periton, plevra ve perikard gibi seröz zarların inflamasyonu ile karakterize olan otoinflamatuvar bir rahatsızlıktır. FMF ve kardiyovasküler tutulum arasındaki ilişkinin açıklanması artan mortalite ve morbitite riskinin azaltılması açısından önem arzetmektedir Gereç ve Yöntem: Biz göğüs ağrısı şikayetiyle kardiyoloji polikliniğine başvuran, ayrıntılı inceleme sonucunda da yeni ve nadir mutasyon taşıyıcısı olan FMF’li hastaları kardiyovasküler tutulum açısından değerlendirdik. Bulgular: Yalnız K447M mutasyon taşıyıcılı FMF hastalarında kardiyovasküler tutulum yokken, M6694V ve R202Q bileşik mutasyon taşıyıcısı olan FMF’li hastalar kardiyovasküler tutulum açısından risk taşımaktadır. Buna ilaveten 761_764dupCCGC duplikasyon mutasyonu taşıyıcılı FMF hastaları yaşamın erken dönemlerinde artmış kardiyovasküler tutulum riskine sahipti. Sonuç: Bu nedenle kardiyovasküler risk açısından mutasyon taşıyıcılı olan FMF hastalarının düzenli takipleri önem arzetmektedir_FMF is an autoinflammatory disorder characterized by inflammation of the serous membranes, such as peritoneum, pleura and pericardium, accompanied by fever and arthritis. Explanation of the relationship between FMF and cardiovascular involvement is important for reducing the increasing mortality and morbidity risk. Methods_ We evaluated patients with FMF who were previously referred to the cardiology polyclinic with the complaint of chest pain and carriers of a new and rare mutation for cardiovascular involvement. Results_ While the cases FMF with only K447M mutation carriers have no cardiovascular involvement, the FMF cases with M6694V and R202Q compound mutation carriers had risk for cardiovascular involvement. In addition, the FMF cases with 761_764dupCCGC duplication mutations had an increased cardiovascular involvement in the early stages of life. Conclusions_ Therefore it is important that regular follow-up of FMF patients with mutation carriers in terms of cardiovascular risk

Arjirofilik nükleolar organize edici bölgeler Non ST elevasyonlu miyokard infarktüsünde hipoksik yanıtın yeni bir belirteci olabilir mi

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(μl/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(μl/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.Non-ST elevasyonlu miyokard enfarktüsü (NSTEMI), bir akut koroner sendrom türüdür ve görülme sıklığı ST elevasyonlu miyokard enfarktüsüne benzer şekilde yüksektir. Nükleolar organize edici bölgeler (NORs), akrosentrik kromozomun ikincil yapısında yer alır ve bazıları arjirofilik olan proteinlerden ve ribozomal DNA'dan (rDNA) oluşur. NSTEMI hastalarında, hipokside artan AgNOR proteinlerinin değişimini araştırmayı amaçladık. Gereç ve Yöntem: Toplam 125 katılımcı, 63 NSTEMI hastası ve herhangi bir akut koroner sendrom tanısı olmayan 62 gönüllü çalışmaya dahil edildi. Bütün hastalara ekokardiyografi yapıldı ve her birey için hem ortalama AgNOR sayısı hem de toplam AgNOR alanı/toplam nükleer alan (TAA/TNA) tespiti yapıldı. Bulgular: Ortalama AgNOR sayısı ve TAA/TNA oranı NSTEMI grubunda kontrole göre anlamlı derecede yüksekti (p<0.001). TAA/TNA ile, kreatinin, hemoglobin, WBC(µl/ml), monosit, nötrofil, nötrofil/lenfosit oranı, monosit/lenfosit oranı arasında istatistiksel olarak anlamlı ilişkiler tespit edildi (tümü için p<0.05). Ayrıca ortalama AgNOR sayısı ile, açlık kan şekeri, HDL, WBC(µl/ml), monosit, nötrofil ve EF arasında istatistiksel olarak anlamlı ilişkiler tespit edildi (p<0.001). Sonuç: Her iki AgNOR protein miktarı, NSTEMI için bir markır olarak kullanılabilir. NSTEMI'de bazı prognostik bilgiler sağlayarak sonuçların tahmin edilmesine de katkıda bulunabilir

The Association of Hereditary Prothrombotic Risk Factors with ST-Elevation Myocardial Infarction

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.Amaç: Ciddi bir sağlık sorunu olan ST yükselmeli miyokart enfarktüsü (STEMI), genellikle koroner arter hastalığının trombotik bir komplikasyonudur. STEMI hastalarını ve kontrol grubunu, FactorV Cambridge G1091C, FactorV Leiden G1691A, MTHFRC677T, MTHFR A1298C, FactorII G20210A, FaktörXIII (V34L), PAI-1, FGB, ITGB3, APOB, FVHR2 dahil olmak üzere kalıtsal trombofilinin olası nedenleri açısından karşılaştırdık. Yöntem: Çalışmaya STEMI’li 53 hasta ve akut koroner sendrom tanısı olmayan 47 kişi dahil edildi. STEMI’li hastalara perkütan koroner girişim uygulandı. Tüm olgulara ekokardiyografi yapıldı ve tüm olgular kalıtsal trombofili genleri açısından değerlendirildi. Bulgular: Kalıtsal trombofilinin MTHFR A1298C, FaktörXIII (V34L), ITGB, ACE ve homozigot veya bileşik heterozigot gen varyasyonu STEMI ile anlamlı olarak ilişkilidir (p<0.05). Ayrıca sigara içen MI hastalarında MTHFR A1298C, FactorV Leiden G1691A, PAI ve ACE gen varyasyonu, HT’li MI hastalarında Faktör XIII (V34L), PAI ve ACE gen varyasyonu, aile öyküsü olan MI hastalarında PAI ve ACE gen varyasyonu ve HL’li MI hastalarında PAI gen varyasyonu anlamlı derecede kontrol grubundan daha yüksek bulundu. Sonuç: Kalıtsal trombofili faktörleri, daha büyük seri çalışmalarla desteklendiğinde STEMI’nin önlenmesi ve tedavisinde umut vaat edebilir2-s2.0-8509876193

Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems?

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.WOS:0007013889000032-s2.0-8510908013

Frequency of Hereditary Prothrombotic Risk Factors in Patients with Down Syndrome

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.Amaç: Down Sendromu (DS), kromozom 21 trizomisi olarak tanımlanır ve kardiyovasküler sistem hastalıkları ile ilişkilidir. Biz DS'li hastalarda kalıtsal trombofili genlerini (MTHFR A1298C, MTHFR C677T, Factor II G20210A, Factor V Leiden G1691A, Factor V Cambridge G1091C, Factor XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 ve ACE) incelemeyi amaçladık. Gereç ve Yöntem: Çalışmaya toplam 53 DS'lu hasta (32 erkek ve 21 kadın) dahil edildi. Olguların demografik, laboratuvar ve klinik özellikleri kaydedildi. 12 derivasyonlu Elektrokardiyogram (EKG), transtorasik ekokardiyografi ve kalıtsal trombofili genleri değerlendirildi. Bulgular: Hastaların klinik ve gelişimsel kusur bulguları yüksekti. Hastaların % 39,6'sı hem heterozigot MTHFR C677T hem de heterozigot MTHFR A1298C taşıyıcısı, hastaların % 18.9'u homozigot MTHFR A1298C taşıyıcısı, hastaların % 17'si heterozigot Faktör V Leiden G1691A taşıyıcısı, hastaların % 43,4'ü 4G / 4G taşıyıcısı, hastaların % 34'ü PAI için 4G / 5G varyasyon taşıyıcısı, hastaların % 22,7'si heterozigot Factor XIII taşıyıcısı, hastaların% 49,1'i ins / del taşıyıcısı ve hastaların% 37,7'si ACE için del / del varyasyon taşıyıcısı idi. Tüm hastalarda, kalıtsal trombofili için homozigot ve / veya bileşik heterozigot varyasyonlardan en az biri vardı. Sonuç: DS'lu hastalar tromboz ilişkili kardiyovasküler sistem hastalıkları açısından yüksek risk taşımaktadır. Kalıtsal trombofili ile ilişkili komplikasyonları azaltmak için alınacak önlemlerle (tıbbi, sosyal, yaşam tarzı vb. ile ilgili) DS'lu bireylerin ortalama yaşam beklentisinin artırılabileceği söylenebilir.WOS:00062876870001