Smoking as a risk factor for cardiovascular and cerebrovascular diseases: Prevalence, impact on prognosis, possible smoking cessation strategies and their effectiveness. Part 2. Advantages of quitting smoking. Strategies to quit smoking
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01.01.2018 |
Ostroumova O.
Kopchjonov I.
Guseva T.
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Rational Pharmacotherapy in Cardiology |
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© Rational Pharmacotherapy in Cardiology 2018. The immediate and remote benefits of smoking cessation are considered. Within one year after quitting smoking the ischemic heart disease (IHD) risk will be 2 folds lower than the risk in smoking patient. Within 15 years the IHD risk declines to non-smoking population level. After 5-15 years after quitting smoking the risk of stroke also declines to non-smoker risk. Smoking cessation prior to cardio surgical intervention leads to reduction of complications incidence by 41%. Smoking cessation significantly reduces the risk of developing stable and unstable angina, acute myocardial infarction, cardiovascular death, transient ischemic attack, ischemic stroke, subarachnoid hemorrhage, intracerebral hemorrhage, peripheral arterial diseases, abdominal aortic aneurysm at any age, in both sexes in comparison to patients who continue to smoke. Smoking cessation is the most cost-effective strategy of cardiovascular disease prevention. Today, the most effective smoking cessation strategy is the identification of smokers and continuous advice on smoking cessation, and offer of the appropriate medication, primarily varenicline. The article contains data from a number of studies showing that varenicline is an effective and safe drug for tobacco dependence treatment, in particular, in patients with acute and chronic cardiovascular disease.
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Influence of CYP4F2*3 on response to clopidogrel in patients with acute coronary syndrome
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01.01.2018 |
Mirzaev K.
Konova O.
Grishina E.
Ryzhikova K.
Sozaeva Z.
Andreev D.
Gilyarov M.
Sychev D.
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Rational Pharmacotherapy in Cardiology |
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© Rational Pharmacotherapy in Cardiology 2018. Background. Carriership of CYP4F2*3 (rs2108622, Val433Met) allelic variant can affect antiplatelet effect of clopidogrel, thus changing efficacy and safety of its standard dose. Aim. To study the impact of carriership of at least one CYP4F2*3 allele on the risk of resistance to clopidogrel in patients with acute coronary syndrome (ACS) who underwent percutaneous coronary intervention (PCI). Material and methods. The study enrolled 81 patients with ACS and PCI: 64 males and 17 females, mean age 63.9±10.9 years. CYP4F2 allelic variants were detected by the method of real-time polymerase chain reaction. Platelet functional activity was evaluated by a portative aggregometer - the VerifyNow P2Y12 assay. Results. Pharmacogenetic testing showed that 40 (49.4%) of ACS patients had normal genotype (CC), 38 (46.9%) patients were carriers of one associated with reduced drug metabolism allele (CT genotype), and 3 (3.7%) patients were homozygotes for T (TT genotype). Genotype and allele distribution was in the Hardy-Weinberg equilibrium (χ2=2.79; p=0.095). There were no statistically significant differences in CYP4F2*3 allele frequency between patients that are resistant to clopidogrel (PRU > 208) and in patients with a normal response to clopidogrel (PRU < 208): 36.8% vs 54.8% (p=0.17). Average platelet reactivity units (PRU) and average platelet inhibition (%) in patients with and without T allelic variant of CYP4F2 also were not significantly different: 165.34±51.03 PRU vs 174.8±51.06 PRU (p=0.407), respectively, and 29.51±21.59% vs 27.72±18.35%, respectively (p=0.69). Conclusion. Carriership of CYP4F2*3 allelic variant does not affect antiplatelet effect of clopidogrel in ACS patients. Further research on larger samples is needed to determine the role of CYP4F2 polymorphisms in personalization of clopidogrel antiplatelet therapy.
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Evaluation of leptin serum levels in patients with metabolic syndrome and left ventricular myocardial hypertrophy
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01.01.2018 |
Drapkina O.
Shepel R.
Deeva T.
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Rational Pharmacotherapy in Cardiology |
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© Rational Pharmacotherapy in Cardiology 2018. Aim. To study serum level of leptin in patients with the metabolic syndrome (MS), including in patients with MS in combination with left ventricular hypertrophy (LVH) to determine the diagnostic significance of this marker in MS. Material and methods. The study involved 43 patients with MS, 33 of them with signs of LVH, and 33 patients without MS comparable age, including 10 patients with LVH. The average age of patients in the MS group at the time of inclusion into the study was 62.7±10.3 years, in the control group (without MS) - 60±14.7 years. All patients underwent a comprehensive examination that included the collection of complaints, study of history, physical examination, anthropometric measurements, laboratory and instrumental examination, including study of the serum level of leptin. Results. Patients of both groups had statistically significant differences in the size of the heart chambers, the presence of LVH signs, left ventricle contractile function, the thickness of the epicardial fat layer. Thus, enlargement of the heart, thickness of the interventricular septum, posterior wall of the left ventricle, thickness of epicardial fat, reduction of ejection fraction of the left ventricle and characteristics of aortic atherosclerosis were observed significantly more often in patients with MS compared with the group without MS (p < 0.05).The average serum level of leptin in the MS group (41.89±33.28 ng/ml) was significantly higher compared to the group without MS (17.64±16.87 ng/ml), p < 0.001. At that women had significantly higher levels of serum leptin (38.65±29.23 ng/ml) compared to males (19.54±27.23 ng/ml), p=0.006. A positive correlation between leptin levels and symptoms of LVH (r=0.294, p < 0.001) was revealed: in the absence of LVH average level of leptin was 21.7±4.1 ng/ml, in the presence of signs of LVH - 39.2±4.95 ng/ml. Conclusions. Leptin levels in MS patients is higher than in patients without MS, and in patients with MS associated with LVH is higher than in MS patients without LVH. As the leptin level increases, the risk of LVH increases.
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6-year-old girl with anorectal malformation: What is more important - anatomy or function?
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01.01.2018 |
Morozov D.
Pimenova E.
Tarasova D.
Yakovenko D.
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Russian Open Medical Journal |
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© 2017, Morozov D.A., Pimenova E.S., Tarasova D.S., Yakovenko D.D., © 2017, Russian Open Medical Journal. 6-year-old girl with first revealed anorectal malformation with perineal fistula was investigate. She did not have any complaints or history of constipation/soiling. Resting and squeeze anal pressure by anorectal manometry was normal. Recto-anal inhibitory reflex registered. There was no signs of dyssynergic defecation. The diameter of the colon by contrast enema was normal, megarectum did not detect, barium all came out after defecation. Muscles electro-identification confirmed external anal sphincter located posterior to the anus. After examination, council for Pediatric Surgery decided not to perform the surgery. Monitoring of the patient continued.
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The clinical and morphological characteristics of C1q glomerulopathy
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01.01.2018 |
Varshavsky V.
Grishina A.
Chebotareva N.
Gudkova E.
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Arkhiv Patologii |
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C1q glomerulopathy is a rare variety of chronic glomerulonephritis manifested as C1q deposition revealed by immunofluorescence microscopy. The pathogenesis and etiology of the disease have not been studied. The paper deals with the results of clinical, morphological, immunofluorescence, and electron microscopic examinations in 13 patients with C1q glomerulopathy. Light microscopy more commonly revealed membranous nephropathy, mesangioproliferative glomerulonephritis, and nephrosclerosis. Immunofluorescence microscopy detected a C1q fraction in association with other deposits, more frequently IgM and IgG ones. A correlation was found between the clinical presentation and morphological form of chronic glomerulonephritis.
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The peculiar morphological features of the blood stains on the snow over of different density
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01.01.2018 |
Nagornov M.
Leonova E.
Kucha A.
Sofroneeva Y.
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Sudebno-Meditsinskaya Ekspertiza |
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1 |
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© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to elucidate the peculiar morphological features of the blood stains on the snow over of different density. We have undertaken the modeling and investigation of the blood stains on the loose snow cover (ρ=0.35±0.03 g/cm3) and at the areas of snow compacted by a motor-vehicle wheel (ρ=0.96±0.03 g/cm3) with the use of the visual, metric, descriptive, and statistical methods. The analysis of the blood stain patterns on the loose snow showed that a blood drop tends to form a depressed cylindrical canal at the bottom of which an irregularly shaped spherical element can be seen; it is composed of small snow crystals soaked with blood. The upper end of the canal has the fine-scalloped edge tending to shed unevenly. The morphological picture of the blood stains at the compacted snow cover is similar to that on the hard wettable rough surfaces; they have the oval shape and the unevenly serrated edge with the well apparent signs of sputtering.at the periphery.
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Increased myocardial expression of Toll-like receptors 2 and 9 as a marker of active myocarditis and a possible predictor of therapeutic effectiveness
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01.01.2018 |
Kogan E.
Blagova O.
Faizullina N.
Nedostup A.
Sulimov V.
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Arkhiv Patologii |
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to investigate the myocardial expression of some structural proteins and markers of cellular proliferation and innate immunity for assessing their possible diagnostic and prognostic role in patients with chronic myocarditis. Subjects and methods. The investigation enrolled 23 patients (16 men; mean age, 52.0±12.4 years (range, 27 to 73) with various forms of noncoronarogenic myocardial injury who underwent right ventricular endomyocardial biopsy (n=4), intraoperative left ventricular biopsy (n=17) or autopsy (n=2). Prior to their morphological examination, the patients were divided into two groups: 1) 10 patients with dilated cardiomyopathy and presumptive myocarditis; 2) 13 patients with valvular heart disease, hypertrophic cardiomyopathy, myxoma, and chronic pulmonary thromboembolism, presumptively without myocarditis. Along with myocardial histological and immunohistochemical (IHC) examinations, the expression of vimentin, desmin, c-kit, Ki-67, and Toll-like receptors (TLR) 2 and 9 was determined. Polymerase chain reaction was used to identify whether herpes viruses of and parvovirus B19 genomes were present in the blood and myocardial samples; indirect ELISA was applied to estimate the blood level of antibodies against various cardiac antigens. Results. According to the histological findings, active/borderline lymphocytic myocarditis was diagnosed in all the patients (Group 1) and in 6 patients (Group 2) in conjunction with the underlying disease (only in 9 and 7 patients, respectively), viral genome was detected in the myocardium of 15 patients, including in 5 without morphological signs of myocarditis (parvovirus B19 (n=11), herpesvirus 6 (n=4), herpes simplex virus types 1 and 2 (n=1), Epstein-Barr virus (n=2), and cytomegalovirus (n=1)), and in the blood (n=4). A marked correlation was found between TLR2 and TLR9 expressions and the morphological pattern of active myocarditis in the absence of this correlation with the expression level of other studied markers. The expression level of TLR2 in patients with and without borderline myocarditis was 0 [0; 0,75] and in those with active myocarditis was 1.5 [1; 1,5] points; that of TLR9 was 2 [2; 2] and 4 [3; 4] points, respectively (p0.001). The expression of TLR2 and TLR9 in patients with borderline myocarditis was lower than in those without myocarditis (0 [0; 0] versus 0 [0; 1] and 2 [1,5; 2] versus 2 [2; 3] points), which can reflect cardiomyocyte destruction/depletion at later stages of the disease. There was also a close correlation between the expression level of TLR2 and that of TLR9 (r=0.824; p0.001) and with Ki-67 levels (r=-0.531 and r=-0.702; p0.01). There was also a correlation of the expression of the studied markers with viral persistence (desmin), the degree of myocardial dysfunction and cardiosclerosis (c-kit), which calls for further investigations. Conclusion. Determination of the myocardial expression level of TLR2 and TLR9 may serve as an immunohistochemical marker for myocarditis and preservation of its activity, which is especially valuable in patients with borderline forms. The marked expression of these markers for innate immunity may reflect both one of the mechanisms of genetic predisposition to myocarditis and its severe course and their secondary activation in the pathogenesis of the disease and is a potential target of therapy.
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Is scleromyxedema a skin problem or systemic pathological process?
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01.01.2018 |
Radenska-Lopovok S.
Volkova P.
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Arkhiv Patologii |
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Scleromyxedema is regarded as a rare cutaneous mucinosis from a group of lichen myxedematosus characterized by diffuse mucin deposition, sclerosis, and lichenoid eruptions in the absence of thyroid disease. The paper discusses the pathogenesis of the disease and histological changes in tissues. It underlines the need for using histochemical tests to identify acidic and neutral glycosaminoglycans and gives a differential diagnosis of this disease.
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The peculiar morphological features of the imprints of straight and wavy head hair dirtied with blood
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01.01.2018 |
Leonova E.
Nagornov M.
Prokhorenko A.
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Sudebno-Meditsinskaya Ekspertiza |
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© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to elucidate the specific morphological features of the imprints of blood-soaked straight and wavy head hair. The contact imprints of straight and wavy head hair dirtied with blood were obtained experimentally. The imprints of straight hair were shown to exhibit the elements in the form of the rectilinear and bow-shaped slightly bent stripes. The imprints of wavy hair were shaped as the arches, waves, circles, and a large number of various small elements, such as dashes and commas.
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The significance of student competitions for the development of motivation for education and the acquisition of professional competences in the students the Department of Forensic Medical Expertise of the Sechenovsky University
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01.01.2018 |
Pigolkin Y.
Lomakin Y.
Leonova E.
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Sudebno-Meditsinskaya Ekspertiza |
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© 2018 Media Sphera Publishing Group. All rights reserved. Russia joined the Bologna process in 2003 and since that time has become integrated into the unified European educational space. The key element of the new form of the higher education process is the self-guided unsupervised work of the students. Motivation is needed to promote the involvement of the students in the educational process which implies the necessity of the goal-oriented initiative for the acquisition of professional knowledge and practical experience in the field of forensic medicine. To achieve this goal, the Department of Forensic Medicine of I.M. Sechenov First Moscow State Medical University places special emphasis on the experience with carrying out student competitions. Each such competition consists of several contests focused on the solution of a specific problem, e.g. the inspection of the place of occurrence under investigation with a gunshot or punctured-and-incised wound, forensic medical autopsy, problem studies, and intelligence tests. All the contests and problem studies are held in the form of an interactive game. The experience gained in the course of the student competitions gives practical evidence that the interdepartmental intelligence contests contribute to raising the interest of students in forensic medicine. The open competition provides a highly efficient tool for the popularization of scientific knowledge and the promotion of interest in the participation in the forensic medical research activities. Moreover, the student competitions facilitate formation of the earlier professional skills indispensable for team working and the development of abilities for making decisions under the extreme conditions. In addition, the contests teach the participants the art of public appearance. They improve the quality of vocational training in forensic medicine and help to establish the first professional contacts at the interinstitutional (including international) level.
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The synopsis of results of the 20 year activities of the Department of Forensic Medicine, I.M. Sechenov First Moscow State Medical University (Sechenovsky University)
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01.01.2018 |
Pigolkin Y.
Lomakin Y.
Zolotenkova G.
Shilova M.
Dubrovin I.
Leonova E.
Khodulapov A.
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Sudebno-Meditsinskaya Ekspertiza |
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© 2018 Media Sphera Publishing Group. All rights reserved. The present article was designed to summarize the results of the 20 year scientific, practical, and educational activities of the Department of Forensic Medicine, I.M. Sechenov First Moscow State Medical University (Sechenovsky University). The main directions of the research work and achievements of the Department's staff are described, and the prospects for its further development are highlighted. The new approaches to and technologies for the teaching and training specialists in forensic medicine are introduced to meet the novel requirements imposed in the framework of the ongoing reform of higher medical education in accordance with the main principles of the Bologna declaration.
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The forensic medical characteristic of the age based on the results of the comprehensive examination of the thyroid cartilage
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01.01.2018 |
Pigolkin Y.
Poletaeva M.
Zolotenkova G.
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Sudebno-Meditsinskaya Ekspertiza |
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© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was the development of the diagnostic model for determining the human age based on the results of the comprehensive examination of the 230 thyroid cartilages (TC) obtained from the corpses of men and women of different age. TC were examined with the use of the anthropometric, X-ray, and histological methods. The anthropometric investigations confirmed the gender-related differences in the structure of human TC. Various characteristics of TC were shown to correlate with the age but these relationships were rather weak even if formally significant. The X-ray studies of TC have revealed the significant correlation of the relative amount of the bone tissue on the images with the age (r=0.8). Of the 27 parameters subjected to the morphometric evaluation, the following ones were shown to significantly correlates with the age: percentage of the bony (r=0,82) and cartilaginous (r=-0.8) tissue areas, average density of the adipose (r=0.76) and reticular (r=0.7) tissues, the maximum length of trabeculae (r=0.67), the width of the mature cartilage zone (r=0.54), the cortical plate thickness (r=0.5), and the mean number of immature chondrocytes in the field of vision (r=0.5). The comprehensive investigation into the structure of the human thyroid cartilage provided a basis for the development of the method for determining the human age with the use of the linear regression equations. It is concluded that the proposed method can be employed as an additional diagnostic tool for determining the human age for the purposes of forensic medical expertise and personality identification.
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The characteristic of protein biosynthesis in brain neurons with chronic alcohol intoxication
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01.01.2018 |
Morozov Y.
Velenko P.
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Sudebno-Meditsinskaya Ekspertiza |
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© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to evaluate the possibilities for the use of the changes in the AgNOR staining patterns in the neurons of the dorsal raphe nucleus (DRN) for the purposes of the medical differential diagnostics of the cases of death from chronic alcohol intoxication. We elucidated the characteristics of the activity of protein biosynthesis including the number and the area of the nucleoli in the nuclei of the neurons of the individuals who had died from chronic alcohol intoxication (n=20) in comparison with the subjects of the control group (n=13). To reveal the morphological structures associated with protein biosynthesis in the nucleoli of the serotoninergic neurons of the dorsal raphe nucleus in the brain, the histological preparations were stained with the use of the silver-staining technique for nucleolar organizer regions (AgNOR). The comparative statistical analysis of the results thus obtained with the calculated confidence coefficients was carried out. The aggregated analysis of all the dorsal raphe subnuclei revealed the impairment of the AgNOR staining characteristics in the neurons of the subjects who had died from chronic alcohol intoxication in comparison with those of the subjects comprising the control group. It is concluded that the results of the study can be used for differential diagnostics of deaths from chronic alcohol intoxication and other causes.
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The present-day view on the pathogenesis and prevention of life-threatening complications of pregnancy and delivery in patients with mesenchymal dysplasias (marfan syndrome, ehlers-danlos syndrome, rendu-weber-osler syndrome)
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01.01.2018 |
Makatsaria A.
Radetskaya L.
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Akusherstvo i Ginekologiya (Russian Federation) |
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© Bionika Media Ltd. Objective. To systematize the current medical knowledge and experience in the management of pregnancy and delivery in patients with mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, Rendu-Osler syndrome). Material and methods. The paper includes the data of foreign investigations and medical guidelines for this problem, which have been published in the past 5 years. Results. The paper describes the molecular bases of each syndrome, diagnostic criteria, and their clinical manifestations in various organs and systems: musculoskeletal and cardiovascular systems, the organ of vision, etc. Such patients during pregnancy are at extremely high risk for life-threatening complications. Conclusion. A successful outcome of pregnancy requires early diagnosis and a multidisciplinary approach throughout during pregnancy and delivery.
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Intermittent hypoxia-hyperoxia exposures improve cardiometabolic profile, exercise tolerance and quality of life: A preliminary study in cardiac patients
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01.01.2018 |
Glazachev O.
Susta D.
Dudnik E.
Zagaynaya E.
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Indian Journal of Public Health Research and Development |
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© 2018, Indian Journal of Public Health Research and Development. All rights reserved. Study design: randomized controlled before-and-after and in follow-up trial. Forty-six CAD patients volunteered to take part in the study: a group of 27 patients undertook an Intermittent Hypoxia (O2 at 10%) - Hyperoxia (O2 at 30%) Training (IHHT), while a control group (CTRL) of 19 patients was allocated to sham IHHT treatment (breathing via face mask by room air, O2 at 21%). Exercise performance, blood and metabolic profile, quality of life (MOS SF-36, Seattle Angina Questionnaire, SAQ) were measured before and after IHHT/sham IHHT in both groups; the intervention group was also assessed one month after completing the IHHT. The IHHT intervention group showed improved exercise capacity (+1,8 ml O2/min/kg, p=0,02), reduced resting systolic and diastolic blood pressures (151/85 before vs 130/73 after p<0,01), enhanced Left Ventricle Ejection Fraction (62,6±5,5% vs 58±6,2%, p<0,01), glycemia was significantly reduced only at 1-month follow-up (6,18±1,7 after vs 7,10±2,34 mmol/l at baseline, p=0,037). Frequency of angina as reason to stop exercising was significantly reduced after treatment and at 1-month follow-up. In CAD patients an Intermittent Hypoxia-Hyperoxia Training program is associated with improved exercise tolerance, risks factors profile and quality of life (SF-36, SAQ). IHHT has proved to be safe, well tolerable and easily applicable in cardiac patients.
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Preparation and properties of chitosan microspheres based on polyglycerol polyricinoleate stabilized emulsions
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01.01.2018 |
Sedyakina N.
Silaeva A.
Krivoshchepov A.
Avramenko G.
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Mendeleev Communications |
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© 2018 Chitosan microspheres were prepared by an emulsification–crosslinking technique with polyglycerol polyricinoleate (PGPR) as a surfactant to stabilize the pre-emulsions. The effect of a ratio between the components of the 2 wt% solution of acetic acid–PGPR–paraffin oil system on the properties of the preemulsion and microspheres was estimated.
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CYP3A Activity and Rivaroxaban Serum Concentrations in Russian Patients with Deep Vein Thrombosis
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01.01.2018 |
Sychev D.
Vardanyan A.
Rozhkov A.
Hachatryan E.
Badanyan A.
Smirnov V.
Ananichuk A.
Denisenko N.
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Genetic Testing and Molecular Biomarkers |
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© Copyright 2018, Mary Ann Liebert, Inc. 2018. Background: Rivaroxaban is metabolized in the liver via CYP3A4, the cytochrome involved in the metabolism of nearly 50% of all medications. Thus, its effective concentration depends on multiple pharmacologic parameters. Methods: The primary goal of our research was to study the correlation between the CYP3A family activity and the safety and efficacy of anticoagulant therapy with rivaroxaban in patients with deep vein thrombosis (DVT). Thirty one patients with DVT aged 21-83 years, 18 men and 13 women, received rivaroxaban (Xarelto) 30 mg/day for 21 days after diagnosis and 20 mg/day for the follow-up period of 6 months. During the study period, Doppler ultrasound was performed weekly to assess the clot dynamics and recanalization time. Results: We found a direct statistically reliable correlation between CYP3A4 activity and both peak and trough rivaroxaban levels. A correlation was also found between the initial clot length and the time to full recanalization r = 0.764 (0.554-0.883), p < 0.0001. No significant link was found between either the glomerular filtration rate and peak rivaroxaban concentrations or between CYP3A4 activity and the treatment effectiveness parameters. No connection between renal function and rivaroxaban concentration was established in our study, which agrees with the clinical trials data that allow unlimited rivaroxaban use in patients with glomerular filtration rate >30 mL/min. Conclusions: The direct link between the initial clot length and time to full recanalization that has been found means that patients with more advanced stages of thrombosis need more time to reach recanalization than their counterparts with a less severe condition.
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Mechanical stress-induced subcellular re-localization of N-terminally truncated tobacco Nt-4/1 protein
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01.01.2018 |
Atabekova A.
Lazareva E.
Strelkova O.
Solovyev A.
Morozov S.
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Biochimie |
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© 2017 Elsevier B.V. and Société Française de Biochimie et Biologie Moléculaire (SFBBM) The Nicotiana tabacum 4/1 protein (Nt-4/1) of unknown function expressed in plant vasculature has been shown to localize to cytoplasmic bodies associated with endoplasmic reticulum. Here, we analyzed molecular interactions of an Nt-4/1 mutant with a deletion of 90 N-terminal amino acid residues (Nt-4/1d90) having a diffuse GFP-like localization. Upon transient co-expression with VAP27, a membrane protein known to localize to the ER, ER-plasma membrane contact sites and plasmodesmata, Nt-4/1d90 was concentrated around the cortical ER tubules, forming a network matching the shape of the cortical ER. Additionally, in response to mechanical stress, Nt-4/1d90 was re-localized to small spherical bodies, whereas the subcellular localization of VAP27 remained essentially unaffected. The Nt-4/1d90-containing bodies associated with microtubules, which underwent noticeable bundling under the conditions of mechanical stress. The Nt-4/1d90 re-localization to spherical bodies could also be induced by incubation at an elevated temperature, although under heat shock conditions the re-localization was less efficient and incomplete. An Nt-4/1d90 mutant, which had phosphorylation-mimicking mutations in a predicted cluster of four potentially phosphorylated residues, was found to both inefficiently re-localize to spherical bodies and tend to revert back to the initial diffuse localization. The presented data show that Nt-4/1 has a potential for response to stresses that is manifested by its deletion mutant Nt-4/1d90, and this response can be mediated by protein dephosphorylation.
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Genetic analysis of melanocortin 1 receptor red hair color variants in a Russian population of Eastern Siberia
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01.01.2018 |
Motorina A.
Palkina N.
Komina A.
Ruksha T.
Artyukhov I.
Kozlov V.
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European Journal of Cancer Prevention |
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© 2018 The Author(s). Published by Wolters Kluwer Health, Inc. The melanocortin 1 receptor is a G s protein-coupled receptor implicated in melanogenesis regulation. The receptor gene is highly polymorphic, which accounts for the association of several of its single-nucleotide polymorphisms (SNPs) with an increased risk of melanoma. The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development. Melanoma patients (n=95) admitted to Krasnoyarsk Territorial Oncological Center and healthy controls (n=334) were enrolled in the study. A clinical examination of patients was performed to evaluate the phenotypic features of melanoma patients. SNPs were analyzed by real-time PCR. Clinical examination indicated a more frequent occurrence of fair skin type, blue eyes, blonde and red hair, and more frequent localization of freckles on the neck, trunk, and extremities in the melanoma group of patients. The R151C melanocortin 1 receptor gene variant was found in 18% of melanoma patients and associated with an increased likelihood of melanoma development (odds ratio=6.4; 95% confidence interval: 2.8-14.3; P=0.0001). The two remaining variant alleles of the melanocortin 1 receptor gene occurred with low frequency both in controls and in the melanoma group. The R160W SNP was identified neither in controls nor in melanoma patients. The D294H heterozygous variant was observed in 0.3% of individuals in the control group and in 1.1% of the patients in the melanoma group. Such an asymmetric distribution of the melanocortin 1 receptor within red hair color genotypes in the population under study compared with other populations may be because of Russian genetic homogeneity. Carriers of the mutant R151C allele should exercise caution in terms of exposure to the sun to avoid the risk of melanoma development.
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Invasive mosquito species Aedes albopictus and Aedes aegypti on the Black Sea coast of the Caucasus: genetics (COI, ITS2), Wolbachia and Dirofilaria infections
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01.01.2018 |
Shaikevich E.
Patraman I.
Bogacheva A.
Rakova V.
Zelya O.
Ganushkina L.
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Vavilovskii Zhurnal Genetiki i Selektsii |
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© AUTHORS, 2018. The area of invasive species Aedes albopictus and Aedes aegypti is expanding. Precise identification and understanding of the genetic diversity of invasive mosquito populations allows us to develop appropriate control methods. Endosymbiotic bacterium Wolbachia pipientis has different effects on their arthropod hosts and can influence the transmission and spread of the pathogens. The objective of the presented study was molecular-genetic identification of the Aedes mosquitoes collected in sampling sites on the Black Sea coast from 2007 to 2017; determination of genetic variability of Ae. aegypti, Ae. albopictus and their symbiotic bacteria Wolbachia; assessment of mosquitoes ability to be infected and to spread parasitic Dirofilaria. Another objective was obtaining the genetic characteristic of laboratory strain Ae. aegypti IMPITM. We investigated two markers of nuclear and mitochondrial DNA from Ae. albopictus and Ae. aegypti and compared them to DNA from Ae. cretinus and Ae. koreiсus sympatrically inhabiting the territory, as well as to one of Ae. aegypti from a laboratory line. The study of nuclear and mitochondrial DNA revealed a low level of variability in the invasive mosquitoes Ae. albopictus and Ae. aegypti collected at different collection sites and in different years. More than a half of Ae. albopictus were infected with Wolbachia, two strains of bacteria, wAlbA and wAlbB, occur in the Ae. albopictus population on the Black Sea coast. Total infection of Ae. aegypti and Ae. albopictus with dirofilariae was 1.8 %. Dirofilaria immitis was found only in mosquito abdomen, larvae of infective stage L3 were not found. D. repens larvae developed to the infective stage in the mosquitoes of both species.
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