scholarly journals Association of SCN5A gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 17 (4) ◽  
pp. 564-569
Author(s):  
S. Yu. Nikulina ◽  
O. O. Kuznetsova ◽  
A. A. Chernova ◽  
G. V. Matyushin ◽  
A. A. Gurazheva ◽  
...  

Subjects and methods. The study included patients with IDC (group 1; n=111, 89.2% men, average age 51.7±9.7 years) and ICM (group 2; n=110, 91.5% men, average age 58.7±8.4 years). All patients (IDC and ICM) underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the group 1. And those patients who were reliably diagnosed with coronary artery disease were in the group 2, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. The control group (n=121, average age 53.6±4.8 years) included patients who had no manifestations of cardiovascular diseases. The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs1805124).Results. In the group with IDC 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with IDC compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group of patients with ICM, the А allele (69.5% vs. 80.1%, p=0.003) and the AA genotype (50.9% vs. 63.3%, p=0.030) were significantly less common than in the control group. The rare homozygous GG genotype was statically more common in patients with ICM compared to the control group (11.8% vs. 3.2%, p=0.004). Also, the G allele in the group of patients with ICM was detected statically significantly more often than in the control group (30.5% vs. 19.9%, p= 0.003).Conclusion. The polymorphic locus rs1805124 of the SCN5A gene is associated with both IDC and ICM. Homozygous genotype AA and allele A are conditionally protective factors for the development of these conditions in men.


2021 ◽  
Vol 12 (1) ◽  
pp. 28-33
Author(s):  
Svetlana Y. Nikulina ◽  
Оksana O. Kuznetsova ◽  
Anna A. Chernova ◽  
Gennadiy V. Matyushin ◽  
Anna A. Gurazheva ◽  
...  

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.



2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1805124 polymorphism of the SCN5A gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and MD IG in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs 1805124). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group with DM IG, there was no association with the rs1805124 polymorphism of the SCN5A gene. Conclusion. A statistically significant Association of rs1805124 of the SCN5A gene with DCMP was found. The Association of DM IG c rs1805124 could not be confirmed.



2021 ◽  
Vol 20 (2) ◽  
Author(s):  
A. L. Burdeynaya ◽  
O. I. Afanasyeva ◽  
E. A. Klesareva ◽  
N. A. Tmoyan ◽  
O. A. Razova ◽  
...  

Aim. To study the relationship between the concentration of lipoprotein (a) (Lp (a)) and autotaxin (ATX) in patients with and without degenerative aortic valve stenosis (AoS) in the presence of coronary artery disease (CAD).Material and methods. The study included 461 patients (mean age, 66±11 years, men, 323), 354 of whom had CAD with stenosis ≥50% in at least one coronary artery according to angiography. Degenerative AoS was diagnosed with ultrasound. The control group consisted of 107 patients without CAD and degenerative AoS. Concentrations of Lp (a), ATX, lipids and blood cells were measured for all patients.Results. CAD without degenerative AoS (group 1) was diagnosed in 307 patients, while 47 patients had CAD and degenerative AoS (group 2). Patients in both groups were older than patients in the control group (66±10, 74±8, and 61±13 years, respectively). The ATX level was lower in group 1 (median [25; 75%]: 495 [406; 583] ng/ml) than in the control group (545 [412; 654] ng/ml) or group 2 (545 [476; 605] ng/ml) (p<0,05 for all). Lp (a) was lower in the control group (14,5 [5,5; 36,0] mg/dl) than in group 1 (24,9 [9,7; 58,4] mg/dl) (p<0,005) and group 2 (23,8 [9,9; 75,7] mg/dL) (p<0,05). According to the logistic regression, an increased ATX level, regardless of age and other risk factors, was associated with degenerative AoS only in patients with CAD, while age and neutrophil to lymphocyte ratio were associated with the development of degenerative AoS both in patients with CAD and the general group.Conclusion. An elevated Lp (a) level is associated with CAD regardless of the aortic valve involvement, while an increased concentration of ATX and neutrophil to lymphocyte ratio in patients with CAD were associated with degenerative AoS regardless of age and other risk factors.



2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs231775 polymorphism of the CTLA4  gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 49A/G polymorphism of the CTLA4  gene (rs231775). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 34.2% of patients were carriers of the common homozygous 49AA genotype, the heterozygous 49AG genotype-48.6%, and the rare homozygous 49GG genotype-17.1%. In the control group 33.5% of patients were identified as carriers of a homozygous genotype by a common allele, and 49.3% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 17.2%. The analysis revealed a statistically non significant increase in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs231775 polymorphism of the CTLA4  gene. In the group with DMI, there was no association with the rs231775 polymorphism of the CTLA4  gene. Conclusion. A statistically significant association of rs231775 of the CTLA4 gene with DCMP was not  found. The association of DMI c rs231775 could not be confirmed.



2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1042713 polymorphism of the ADRB2 gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 16 AG polymorphism of the ADRB2 gene (rs1042713). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 10.8% of patients were carriers of the common homozygous 16AA genotype, the heterozygous 16AG genotype-48.6%, and the rare homozygous 16GG genotype-40.5%. In the control group 11.8% of patients were identified as carriers of a homozygous genotype by a common allele, and 47.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 40.7%. The analysis non revealed a statistically significant decrease in the frequency of carrying the homozygous 16GG genotype in patients with DCMP compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. In the group with DM IG, there was no association with the rs1042713 polymorphism of the ADRB2 gene. Conclusion. A statistically significant association of rs1042713 of the ADRB2 gene with DCMP was not found. The association of DMI c rs1042713 could not be confirmed.



Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Nicolas Mansencal ◽  
Rémy Pillière ◽  
Rami El Mahmoud ◽  
Jean-Christian Farcot ◽  
Thierry Joseph ◽  
...  

Background: The pathogenesis of Tako-Tsubo (TT) syndrome (stress-induced cardiomyopathy) is not yet understood. Velocity vector imaging (VVI) is a new echocardiographic technology that measures myocardial velocity and deformation using 2D speckle tracking. The aim of this study was to compare the pattern of VVI in pts with TT sy, coronary artery disease (CAD) and in healthy pts. Methods: We prospectively studied 36 consecutive pts divided in 3 groups: 12 pts with confirmed TT sy (group 1), 12 pts with CAD defined as a documented LAD occlusion (group 2) and 12 healthy pts (group 3) and all groups were age- and sex-matched. We systematically performed echocardiography in all pts, with the use of VVI technology, allowing to measure peak velocity (V), strain (S) and strain rate (SR) in basal, mid and apical septum and free wall (FW) in apical 4-chamber view. Results: Mean age was 76 ± 8 yo in each group (36 women). Mean values of V, S and SR in mid and apical septum and FW were significantly lower in TT sy (p<0.04), as compared to group3, but not with group2. In group 1 as well as in control group, no significant differences for the values of V, S and SR were observed between basal septum and bas.FW, between mid septum and midFW and between apical septum and ap.FW (p=NS, Fig ), whereas in patients with CAD (group 2), basal septal V was significantly higher versus basal FW V (p=0.04) and apical septal V was significantly lower versus apical FW V (p=0.02). Conclusion: Our study suggests that VVI allows to distinguish patients with TT sy from those with CAD. In TT sy, left ventricular dysfunction is circular, whereas pts with LAD occlusion presented segmental wall motion abnormalities detected by VVI.



2019 ◽  
Vol 20 (1) ◽  
pp. 12-18
Author(s):  
Sameh El-Nabtity

The present study aimed to investigate the prophylactic effect of Cymbopogon proximus and Alhagi maurorum on Sulfadimidine induced urolithiasis in rabbits . Thirty New Zealand male rabbits were allocated into six equal groups (each of five): Group (1) was used as a negative control. Group(2) were administered sulfadimidine (200mg/kg) by intramuscular injection.Groups(3) and (4) were administered sulfadimidine(200mg/kg) by intramuscular injection and 330mg/kg of Cymbopogon proximus alcoholic and aqueous extracts respectively orally.Groups(5) and (6) were administered sulfadimidine(200mg/kg) by intramuscular injection and 400mg/kg of Alhagi maurorum alcoholic and aqueous extracts respectively orally. The period of experiment was 10 days. Blood and urine samples were collected from rabbits on the 10th day. The results recorded a significant decrease in serum creatinine, urea, uric acid and crystalluria in Cymbopogon proximus and Alhagi maurorum groups compared to sulfadimidine treated group.We conclude that Cymbopogon proximus and Alhagi maurorum have a nephroprotective and antiurolithiatic effects against sulfadimidine induced crystalluria.



2021 ◽  
Vol 14 (1) ◽  
pp. 656-664
Author(s):  
I.R. Volchkova ◽  
A.V. Yumashev ◽  
V.V. Borisov ◽  
V.I. Doroshina ◽  
E.A. Kristal ◽  
...  

Introduction: Removable dentures are used by 20% of the population. These may be accompanied by denture stomatitis in 15-70% of patients. The choice of the optimal cleansing agent for removable dental prostheses is of high significance. Aim: The aim of our research was to study the influence of removable denture cleansing products on the adhesion of microorganisms and yeast. Materials and Methods: We manufactured 144 specimens of standardized round shape with a diameter of 10 mm from 4 types of modern polymeric materials used by prosthetic dentistry to produce removable dentures, 12 specimens of each material were placed into suspensions of bacterial cultures of Staphylococcus aureus, Escherichia coli, Candida albicans, then into “ClearaSept” (Test group 1), “Рrotefix active cleanser” (Test group 2), saline solution (Control group), followed by nutrient media. The adhesion index was calculated and analyzed. Results: There was no reliable lowering of adhesion index of Staphylococcus Aureus to all materials detected in Test group 1 (U=6, p>0.05 for Bio XS; U=8, p>0.05 for Dental D, Denotokeep Peek, Vertex Rapid Simplified). In Test group 2, the adhesion index of Staphylococcus Aureus reliably decreased to all materials compared to the Control group (U=0, p≤0.01). The adhesion index of Candida albicans and Escherichia coli to all materials in Test group 1 had a minor to moderate reliable reduction compared to the Control group (U=0, p≤0.01). Test group 2 showed a significant reliable decrease in Candida albicans and Escherichia coli adhesion index to all materials in comparison with the Control group (U=0, p≤0.01). Conclusion: The research showed an unreliable or minor and moderate reliable decrease in microorganisms adhesion index depending on the microorganism species after treatment of denture material specimens by antibacterial soap “ClearaSept” and a reliable significant decrease in microbial and yeast adhesion after application of Protefix active cleaner solution, which demonstrates a more significant antimicrobial effect in comparison to “ClearaSept” against Staphylococcus aureus, Escherichia coli, and Candida albicans.



Vascular ◽  
2021 ◽  
pp. 170853812110183
Author(s):  
Arda Aybars Pala ◽  
Yusuf Salim Urcun

Objectives Triglyceride-glucose index (TyG index), which is defined as the simple and novel marker of insulin resistance, is becoming increasingly important as a promising predictive marker for atherosclerotic diseases. Chronic limb-threatening ischemia is defined as the most advanced stage of the lower extremity peripheral artery disease, whose main cause is atherosclerosis and is associated in this respect with amputation, impaired quality of life, and mortality. The main purpose of the present study was to investigate the relation between the calculated TyG index values and chronic limb-threatening ischemia development. Methods A total of 296 patients who were diagnosed with lower extremity peripheral artery disease in our outpatient clinic between October 2018 and October 2020 were included in this study retrospectively. Two groups were formed by clinically staging the patients according to Rutherford Classification. Patients who did not develop chronic limb-threatening ischemia were classified as “Group 1” ( n = 224) and those who developed were classified as “Group 2” ( n = 72). Results The mean TyG index values that were calculated in Group 2 were significantly higher than in Group 1 (9.27 ± 0.31 vs. 9.00 ± 0.34, p < 0.001). In the multivariate logistic regression analysis conducted to determine the predictors of chronic limb-threatening ischemia development, C-reactive protein (OR [Odds Ratio]: 1.220, 95% CI [confidence interval]: 1.092–1.363, p < 0.001), high-density lipoprotein cholesterol (OR: 0.775, 95% CI: 0.715–0.839, p < 0.001) and TyG index (OR: 5.796, 95% CI: 2.050–16.382, p = 0.001) were identified as independent predictors. Receiver operating characteristic analysis revealed that the cut-off value of TyG index was 9.13 (area under the curve: 0.721, p < 0.001) with 70.8% sensitivity and 65.2% specificity. The TyG index was significantly correlated with Rutherford category, high-density lipoprotein cholesterol and mean platelet volume. Conclusions Chronic limb-threatening ischemia development may be predicted with the TyG index value, which is calculated easily from routine biochemical parameters, in patients diagnosed with lower extremity peripheral artery disease.



Angiology ◽  
2021 ◽  
pp. 000331972199141
Author(s):  
Arafat Yildirim ◽  
Mehmet Kucukosmanoglu ◽  
Fethi Yavuz ◽  
Nermin Yildiz Koyunsever ◽  
Yusuf Cekici ◽  
...  

Many parameters included in the Anticoagulation and Risk Factors in Atrial Fibrillation (ATRIA) and CHA2DS2-VASc (congestive heart failure, hypertension, age ≥75 years, diabetes mellitus, stroke, vascular disease, age 65-74 years, sex category) scores also predict coronary artery disease (CAD). We modified the ATRIA score (ATRIA-HSV) by adding hyperlipidemia, smoking, and vascular disease and also male sex instead of female. We evaluated whether the CHA2DS2-VASc, CHA2DS2-VASc-HS, ATRIA, and ATRIA-HSV scores predict severe CAD. Consecutive patients with coronary angiography were prospectively included. A ≥50% stenosis in ≥1epicardial coronary artery (CA) was defined as severe CAD. Patient with normal CA (n = 210) were defined as group 1, with <50% CA stenosis (n = 178) as group 2, and with ≥50% stenosis (n = 297) as group 3. The mean ATRIA, ATRIA-HSV, CHA2DS2-VASc, and CHA2DS2VASc-HS scores increased from group 1 to group 3. A correlation was found between the Synergy between PCI with Taxus and Cardiac Surgery score and ATRIA ( r = 0.570), ATRIA-HSV ( r = 0.614), CHA2DS2-VASc ( r = 0.428), and CHA2DS2-VASc-HS ( r = 0.500) scores ( Ps < .005). Pairwise comparisons of receiver operating characteristics curves showed that ATRIA-HSV (>3 area under curve [AUC]: 0.874) and ATRIA (>3, AUC: 0.854) have a better performance than CHA2DS2-VASc (>1, AUC: 0.746) and CHA2DS2-VASc-HS (>2, AUC: 0.769). In conclusion, the ATRIA and ATRIA-HSV scores are simple and may be useful to predict severe CAD.



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