(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 ST- elevation myocardial infarction (STEMI), a serious health care problem, is commonly a thrombotic complication of coronary artery disease. We compare the STEMI patients and control group in terms of the possible causes of inherited thrombophilia including FactorV Cambridge G1091C, FactorV Leiden G1691A, MTHFRC677T, MTHFR A1298C, FactorII G20210A, Factor XIII (V34L), PAI-1, FGB, ITGB3, APOB, FVHR2, ACE gene variants. Fifty-three patients with STEMI and 47 individuals without diagnosis of acute coronary syndrome were included in the study. Percutaneous coronary intervention was performed for patients with STEMI. Echocardiography was performed and inherited thrombophilia genes were evaluated in all subjects. The MTHFR A1298C, Factor XIII (V34L), ITGB, ACE and homozygous or compound heterozygous gene varations of inherited thrombophilia are significantly related with STEMI (p<0.05). Also significantly higher MTHFR A1298C, FactorV Leiden G1691A, PAI and ACE gene variations in MI patients who were smokers; Factor XIII (V34L), PAI and ACE gene variations in MI patients with HT; PAI and ACE gene variation in MI patients with FH and PAI gene variations in MI patients with HL were detected when compared with the control groups with all of the same risk factors (p<0.05). Hereditary thrombophilia factors may show promise in the prevention and management of STEMI when supported studies with larger case series.

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. Materials and 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 variations 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: Non-ST elevasyonlu miyokard enfarktüsü (NSTEMI), bir akut koroner sendrom türüdür ve görülme sıklığı ST yükselmeli miyokard enfarktüsüne benzer şekilde yüksektir. Nükleolar organize edici bölgeler (NORs), akrosentrik kromozomun ikincil boğumunda yer alan ribozomal DNA'dan (rDNA) ve bazıları arjirofilik olan proteinlerden oluşur. Bu çalışmada, NSTEMI hastalarında hipokside artan AgNOR proteinlerinin değişimini araştırmayı amaçladık. Metod: Bu çalışmaya 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) oranı tespit edildi. Bulgular: Çalışmamızın sonucunda 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, EF arasında istatistiksel olarak anlamlı ilişkiler tespit edildi (p<0.001). Sonuç: Her iki AgNOR protein miktarı, NSTEMI için bir belirteç olarak kullanılabilir. Buna ilaveten, NSTEMI'de bazı prognostik bilgiler sağlayarak sonuçların tahmin edilmesine de katkıda bulunabilir. Anahtar Kelime: AgNOR, Hipoksi, NOR, NSTEMI.

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. The demographic features, laboratory findings, anthropometric measurements and cardiological 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. 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. 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.