scholarly journals Role of AGTR1 A/C polymorphism in the development of atrial fibrillation

2017 ◽  
Vol 89 (9) ◽  
pp. 48-52
Author(s):  
A V Kuskaeva ◽  
S Yu Nikulina ◽  
A A Chernova ◽  
N V Aksyutina ◽  
A P Kuskaev ◽  
...  

Aim. To investigate the AGTR1 A/C polymorphism associated with atrial fibrillation (AF) to form risk groups among patients who are prone to this disease. Subjects and methods. 90 probands with a confirmed diagnosis of AF and their 144 first-, second-, and third-degree relatives were examined. These families made up a study group. A control group was formed of 100 apparently healthy individuals without a history of cardiovascular diseases. Collection of medical history data and complaints, electrocardiography, electrocardiogram monitoring, as well as molecular genetic analysis, thyroid hormone tests were done in all the patients. Results. No statistically significant data on the correlation between the AGTR1 A/C polymorphism and the development of AF were obtained in any patient subgroup. The obtained results can be due to the genetic features of a Siberian population, which are dependent on climatic conditions and geographical location, and confirm that AF is a heterogeneous disease. Conclusion. There were no statistically significant differences between the patients in the study group and those in the control group. Our findings suggest the heterogeneity of AF and confirm its multifactorial nature.

Author(s):  
Gordienko A.V. ◽  
Golikov A.V. ◽  
Tassybayev B.B. ◽  
Reiza V.A.

Relevance. The role of hemodynamic changes in myocardial infarction complicated by acute kidney injury is interpreted in different ways. Aim. To evaluate the heart chambers and structures peculiarities in men under 60 years old with myocardial infarction complicated by acute kidney injury to improve prevention and outcomes. Material and methods. The study included men 19-60 years old with type I myocardial infarction. The patients were divided into two age-comparable groups: I - study group, with acute kidney injury - 25 patients; II - control, without it - 366 patients. A comparative assessment of the heart chambers and structures parameters in the first 48 hours (1) and at the end of the third week of the disease (2), their dynamics, also acute kidney injury development risk analysis (ANOVA) were performed. Results. The study group differed from the control group in smaller sizes of the left atrium2 (38.1±6.0 and 42.0±5.4 (mm), respectively; p=0.01), a higher frequency of the middle anterior (100 and 15.6%; p=0.02) and antero-septal (100 and 17.7; p=0.04) segments akinesia and the absence (0 and 81.5%; p=0.04) of tricuspid regurgitation. In the study group, there was a smaller increase in the ventricles size than in the control group (left: 0.6 and 1.7%, respectively; right: 15.3 and 33.6%) and a greater decrease in the atria size, compared in the control group (left: -1.8 and -25.3%; right: -25.3 and -0.1%) (p<0.0001). The risk markers of the acute kidney injury developing were the dimensions of the left atrium1˂34 mm, interventricular septum≥12.0 mm, end systolic1≥4.23 and diastolic1≥5.3 of the left ventricle, right ventricle1˂2.6; of the right atrium1≥4.7 (cm), the mass of the left ventricle1≥328.8 g. Conclusions. Men under 60 years old with acute kidney injury in myocardial infarction are characterized by lesions of the middle anterior and antero-septal segments, the absence of tricuspid regurgitation, and a smaller left atrium in the subacute period of the disease. The above of the heart chambers dimensions values should be used in the high-risk groups for the acute kidney injury development formation, as well as for prognostic modeling.


Author(s):  
А. Мироманов ◽  
В. Доржеев ◽  
Н. Мироманова ◽  
Ю. Витковский

Введение. Политравма отличается особой тяжестью клинических проявлений, сопровождается значительным нарушением жизненно важных функций организма, трудностью диагностики и лечения, частым развитием разнообразных осложнений, длительным периодом пребывания в стационаре и высокой инвалидизацией. Тромбоэмболические осложнения при политравме встречаются в 40–77% случаев и характеризуются скрытым клиническим течением, трудностью лечения и высокой летальностью. Цель исследования. Изучить влияние полиморфизма гена IL2-330T{>{G на экспрессию интерлейкина-2 (IL-2) у пациентов с венозными тромбоэмболическими осложнениями (ВТЭО) политравмы в Забайкальском крае. Материалы и методы. В исследование включено 114 пациентов (71,9% мужчин и 28,1% женщин) в возрасте от 20 до 40 лет с политравмой. Критерий включения в исследование: политравма с индексом по шкале ISS более 9. Первая группа — 73 пациента с неосложнённым течением политравмы, вторая группа — 41 пациент с ВТЭО политравмы. Контрольную группу составили 100 практически здоровых мужчин и женщин в возрасте от 20 до 40 лет. Материалом для молекулярно-генетического анализа служили образцы ДНК, выделенные из периферической крови. Для исследования выбрана точковая мутация IL-2 в позиции 330 (Т{>{G). Результаты. У пациентов с ВТЭО политравмы регистрировали более частое носительство генотипа -330T/T гена IL2; наличие этого генотипа сопровождалось увеличением продукции IL-2. Заключение. Идентификация генов и раскрытие их влияния на экспрессию кодируемых молекул способствует более глубокому пониманию патогенетических механизмов развития осложнений. Introduction. Polytrauma is characterized by a specifi c severity of clinical manifestations, is accompanied by a signifi cant impairment of vital body functions, the diffi culty of diagnosis and treatment, frequent development of various complications, prolonged period of hospitalization and high disability. Thromboembolic complications of polytrauma occur in 40–77% of cases and characterized by latent clinical course, diffi culties in treatment and high mortality. The aim was to study the eff ect of gene IL2-330T{>{G polymorphism on the expression of interleukin-2 (IL-2) at patients with venous thromboembolic complications (VTE) of polytrauma in Zabaykalskiy Krai. Materials and methods. The study included 114 patients (71,9% men and 28,1% women) with polytrauma aged from 20 to 40 years. Inclusion criteria: polytrauma with index according ISS scale more than 9. First group — 73 patients with uncomplicated polytrauma, second group — 41 patients with VTE of polytrauma. Control group consisted of 100 practically healthy men and women aged from 20 to 40 years. DNA samples isolated from the peripheral blood were the material for molecular genetic analysis. Point mutation of IL-2 at position 330 (T{>{G) was selected for study. Results. Genotype -330T/T of IL2 gene was registered more frequently at patients with VTE of polytrauma; the presence of this genotype was accompanied by increased production of IL-2. Conclusion. Identifi cation of genes and their eff ects on the expression of encoded molecules assists more overall understanding of pathogenetic mechanisms of complications development.


Cardiology ◽  
2020 ◽  
Vol 145 (3) ◽  
pp. 168-177 ◽  
Author(s):  
Antonio Muscari ◽  
Pietro Barone ◽  
Luca Faccioli ◽  
Marco Ghinelli ◽  
Marco Pastore Trossello ◽  
...  

Introduction: To assess the probability of undetected atrial fibrillation (AF) in patients with ischemic stroke, we previously compared patients who were first diagnosed with AF with patients with large or small artery disease and obtained the MrWALLETS 8-item scoring system. In the present study, we utilized cryptogenic strokes (CS) as the control group, as AF is normally sought among CS patients. Methods: We retrospectively examined 191 ischemic stroke patients (72.5 ± 12.6 years), 68 with first diagnosed AF and 123 with CS, who had undergone 2 brain CT scans, echocardiography, carotid/vertebral ultrasound, continuous electrocardiogram monitoring and anamnestic/laboratory search for cardiovascular risk factors. Results: In logistic regression, 5 variables were independently associated with AF, forming the “ACTEL” score: Age ≥75 years (OR 2.42, 95% CI 1.18–4.96, p = 0.02; +1 point); hyperCholesterolemia (OR 0.38, 95% CI 0.18–0.78, p = 0.009; –1 point); Tricuspid regurgitation ≥ mild-to-moderate (OR 4.99, 95% CI 1.63–15.27, p = 0.005; +1 point); left ventricular End-diastolic volume <65 mL (OR 7.43, 95% CI 2.44–22.6, p = 0.0004; +1 point); Left atrium ≥4 cm (OR 4.57, 95% CI 1.97–10.62, p = 0.0004; +1 point). The algebraic sum of these points may range from –1 to +4. For AF identification, the area under the receiver operating characteristic curve was 0.80 (95% CI 0.73–0.87). With a cutoff of ≥2, positive predictive value was 80.8%, specificity 92.7% and sensitivity 55.9%. Conclusions: The ACTEL score, a simplified and improved version of the MrWALLETS score, allows the identification of patients with first diagnosed AF, in the context of CSs, with a high positive predictive value.


2015 ◽  
Vol 18 (3) ◽  
pp. 12
Author(s):  
S. M. Yefremov ◽  
Ye. A. Pokushalov ◽  
A. B. Romanov ◽  
A. M. Chernyavskiy ◽  
A. N. Shilova ◽  
...  

The study was aimed at testing the hypothesis that perioperative infusion of omega-3 polyunsaturated fatty acids would reduce the incidence of postoperative atrial fibrillation in CAD patients operated under CPB. The authors carried out a prospective, randomised, double-blind, placebo-controlled study. 39 CAD patients who had undergone surgery under cardiopulmonary bypass were randomized into 2 groups. 18 patients were infused with omega-3 polyunsaturated fatty acids (Omegaven, Fresenius Kabi, Germany) starting with 200 mg/kg/day before anaesthesia induction for 24 hours followed by 100 mg/kg/day from second to seventh day postoperatively. 21 patients received an equivalent dose of placebo (Intralipid, Fresenius Kabi, Germany). The primary endpoint was freedom from atrial fibrillation at 2-year follow-up. A Reveal cardiac monitor was implanted subcutaneously in all patients. Data from cardiac monitor was collected on the 10th day and at 3, 6, 12 and 24 months postoperatively. Postoperative atrial fibrillation developed in 4 (19%) patients in the control group and in 5 (27.8%) patients in the study group at 10-day follow-up (p = 0.88). At 2-year follow-up, 5 (27.8%) patients in the control group and 6 (35.3%) patients in the study group had atrial fibrillation (p = 0.9). The results of our research do not confirm the efficiency of perioperative infusion of omega-3 polyun-saturated fatty acids to prevent the occurrence of atrial fibrillation.


2018 ◽  
Vol 18 ◽  
pp. 256-263
Author(s):  
V. V. Topchiy

Modern progress in forensic molecular genetic examination allow to obtain information about a particular person using traces variety of biological origin especially while committing grave crimes against human life and health, that are usually found at the scene and belong to a human body. A significant advantage of this method under crime investigation is precisely the safe exclusion of suspected persons not involved in the commission of a crime, in identifying those who committed a crime with a high probability level. At the present stage of forensic molecular genetic examination development there are significant gaps in legislation that are solved by adopting relevant normative and legal acts and improving existing ones. Effective method for of DNA analysis development is the creation of appropriate bases of genetic features of a person. However, the legislative consolidation of this process should take place in the context of respecting and protecting personal rights. However, terms of performing molecular genetic examination significantly exceed the terms of pre-trial investigation. This problem can be solved by expanding network of laboratories that perform such examination. Despite presence of a small number of problems, it is possible to affirm that DNA analysis is the most effective and reliable of all known methods of person identification at the present stage. At present, expert molecular genetic analysis develops not only as a section of molecular genetic research but also as a complete element of criminalistic knowledge that is aimed at investigating and disclosing crimes. Therefore, implementation of molecular genetic research methods into the practice of law enforcement agencies in Ukraine will significantly increase investigation effectiveness of many serious crimes against person.


2017 ◽  
Vol 20 (1) ◽  
pp. 3-6
Author(s):  
Svetlana V. Verkhoturova ◽  
Svetlana U. Tsarenok ◽  
Vladimir V. Gorbunov ◽  
Tatyana A. Aksenova

Aim: to study the frequency of genotypes of the polymorphous markers of bone remodeling (vita-min D receptor gene Bsm1 c.IVS7G> A, the lactase gene LCT 13910 T> C and collagen gene COL1A 12046 G-> T) in healthy people and patients with osteopo-rosis (OP) among the indigenous population of Trans-baikalia of Russian and Buryat nationalities. Methods: 97 women with OP were examined: 49 Russian and 48 Buryat women aged from 50 to 80 years. 123 healthy women of the same age group were included in the control group. DNA sam-ples for molecular genetic analysis were taken from peripheral venous blood. Results: The recessive allele A of the VDR – Bsm1c.IVS7G> A polymorphism was accumulated in women of Buryat nationality, but the statistical significance was not observed (OR = 1.04, CI [0 68, 1.6]). C al-lele of LCT -13910 T> C polymorphism was associated with the development of OP among the representa-tives of Buryat nationality. Conclusion: The gene allele VDR Bsm1 c.IVS7G> Aand the LCT -13910 T>C leads to a higher risk of OP in women of Buryat nationality. The genotypes G/Tand T/T of COL1A12046 G-> T are associated with the development of OP in people of both nationalities.


Author(s):  
Aksyutina N.V. ◽  
Shulman V.A. ◽  
Aldanova E.E. ◽  
Nikulina S.Yu. ◽  
Mordovskii V.S. ◽  
...  

Atrial fibrillation (AF) is one of the most common and dangerous heart rhythm disorders. Lone AF is due to a genetic predisposition. Foreign studies have proven the association of rs2200733 polymorphism of chromosome 4q25 with AF. No such studies have been conducted in the Russian Federation. Purpose of the study: to determine the association of the rs2200733 polymorphism of chromosome 4q25 with the development of AF, and to exclude the possible connection of the studied polymorphic marker with concomitant cardiovascular pathology. A total of 247 patients with AF were examined (113 from lone AF, 134 from secondary). Control group - 182 healthy people. Behavior: ECG, EchoCG, Holter ECG monitoring, blood test for thyroid hormones, VEM, CAG, molecular genetic research. In the group of patients with AF, the TT genotype was detected in 12.95%, which is statistically significant more often than in the control group (4.94%), p<0.05. In the presence of a genotype with a rare T allele, the risk of developing AF increases by 1.5 times. The TT genotype was statistically significant more often in the subgroup of patients with isolated AF (17.70%) in comparison with the control group (4.94%), p<0.05. The risk of developing isolated AF in the presence of a genotype with a rare allele T is 1.8 times increased. Chronic heart failure, no statistically significant differences were found (p>0.05). In patients with the TT genotype, the mean LA size was 3.738 ± 0.494 cm, it was statistically significantly smaller than in patients with the CC genotype, which corresponded to 3.925 ± 0.629 cm, p<0.05; and than in individuals with a heterozygous CT genotype, its value in this subgroup is 4.018 ± 0.639 cm, p<0.05. Conclusions: Homozygous genotype for the rare TT allele and the T allele of the rs2200733 polymorphism of chromosome 4q25 are predictors of lone AF. The rs2200733 polymorphism has no association with any cardiovascular pathology, such as hypertension, ischemic heart disease and chronic heart failure. The TT genotype and the T allele of the rs2200733 polymorphism do not affect left atrial remodeling in patients with AF.


Diagnostics ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 38
Author(s):  
Philipp S. Lange ◽  
Natasa Mihailovic ◽  
Eliane Esser ◽  
Gerrit Frommeyer ◽  
Alicia J. Fischer ◽  
...  

Purpose: To evaluate retinal and optic nerve head (ONH) perfusion in patients with atrial fibrillation (AF) before and after catheter ablation of AF with pulmonary vein isolation (PVI). Methods: 34 eyes of 34 patients with AF and 35 eyes of 35 healthy subjects were included in this study. Flow density data were obtained using spectral-domain OCT-A (RTVue XR Avanti with AngioVue, Optovue, Inc, Fremont, California, USA). The data of the superficial and deep vascular layers of the macula and the ONH (radial peripapillary capillary network, RPC) before and after PVI were extracted and analysed. Results: The flow density in the superficial OCT-angiogram (whole en face) and the ONH (RPC) in patients with AF was significantly lower compared to healthy controls (OCT-A superficial: study group: 48.77 (45.19; 52.12)%; control group: 53.01 (50.00; 54.25)%; p < 0.001; ONH: study group: 51.82 (48.41; 54.03)%; control group: 56.00 (54.35; 57.70)%; p < 0.001;). The flow density in the ONH (RPC) improved significantly in the study group following PVI (before: 51.82 (48.41; 54.03)%; after: 52.49 (50.34; 55.62)%; p = 0.007). Conclusions: Patients with AF showed altered ocular perfusion as measured using OCTA when compared with healthy controls. Rhythm control using PVI significantly improved ocular perfusion as measured using OCT-A. Non-contact imaging using OCTA provides novel information about the central global microperfusion of patients with AF.


2021 ◽  
Vol 40 (2) ◽  
pp. 49-54
Author(s):  
Al’farabi S. Izmuhanov ◽  
Aleksandr V. Gordienko

AIM: Myocardial rupture currently remains in most cases a fatal complication of myocardial infarction. OBJECTIVE: To study the features of the structure of cardiovascular risk factors in men under 60 years old with complicated myocardial infarction to improve prevention. MATERIALS AND METHODS: The study included men 1960 years old with type I myocardial infarction. The patients were divided into two groups age-comparable: I studied, with myocardial rupture seven patients; II control, without breaks 558 patients. A comparative analysis of the frequency of observation of the main and additional factors of cardiovascular risk in the selected groups was performed. RESULTS OF THE STUDY: In the patients of the study group, frequent (four or more times a year) colds were observed more often than in the control group (42.9 and 14.8%, respectively; p = 0.04), the internal organs foci of infections (85.7 and 40.3%; p = 0.049), bypass surgery (57.1 and 10.2%; p 0.0001) and continuous cardiac pacing (28.6 and 0.5%; p 0.0001) in medical history. The presence of arterial hypertension (28.5 and 67.6%; p = 0.03) and foci of oral cavity infections (0 and 20.3%; p = 0.049) reduced the risk of myocardial rupture. In the study group, the levels of total cholesterol (4.3 0.3 and 5.8 1.2 mmol/l); p = 0.02), low-density lipoproteins (2.7 0.1 and 4.2 1.2 mmol/l); p = 0.04) and triglycerides (0.7 0.1 and 2.6 1.8 mmol/l); p = 0.008) were lower than in the control. CONCLUSION: Combinations of these cardiovascular risk factors indicate an increased risk of myocardial rupture. It is advisable to use them for predictive modeling of this event and the formation of risk groups for the purpose of timely prevention, (bibliography: 18 refs.).


2020 ◽  
Vol 5 (4) ◽  
pp. 21-27
Author(s):  
M. S. Panova ◽  
A. S. Panchenko ◽  
B. S. Pushkarev

Background. An infant brain damage is an extremely urgent problem, this pathology is difficult to prevent, and subsequently it manifests itself with a variety of neurological consequences. Various mechanisms are involved in neurodamage; cytokines, as well as genes that control their activity, are under a great concern today. However, there is little data about their role as predictors of the brain damage among children after hypoxia. Aim of the research. To identify the frequency of cytokine gene polymorphism: interleukin (IL)-1β(C-511T), IL-1β(C3953T), IL-4(C589T), IL-6(C174G), IL-10(C819T), IL-10(G1082A) among newborns with hypoxic events. Materials and methods. The study involved 128 full-term newborn patients with hypoxic events: the first group (n = 48) included newborns who experienced chronic intrauterine hypoxia (CVH), the second group (n = 80) included newborns born in asphyxiation. Control group (52) included babies born without asphyxia and not suffering from CVH. A retrospective analysis of case-records was carried out. The material for molecular genetic analysis was DNA samples isolated from umbilical cord blood leukocytes using DNA Express Blood reagents (Scientific and Production Company LITECH, Moscow). Results. Compared to the control group (p = 0.03) children born in asphyxia had their T allele IL-1β (C-511T) prevailed. The group of newborn who had CVH had their TT genotype (p = 0.04) and the T IL-1β allele (C-511T) (p = 0.01) prevailed compared to the control group. In the same study group while studying the polymorphism of the IL-1β gene, the T allele (p = 0.03) at the point C3953T prevailed, in contrast to the control group. Conclusion. Due to the fact that cytokines are part of a reaction cascade leading to the secondary brain damage, under the action of hypoxia, it was found that among newborns undergoing asphyxia and chronic intrauterine hypoxia the increased frequencies of carriage of IL-1β-511TT and IL-1β-3953TT genotypes, and IL-1β-511T and IL-1β-3953T alleles increase the risk of neurodamage.


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