An overtraining syndrome as functional cardiovascular disorder due to physical overload
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01.01.2018 |
Badtieva V.
Pavlov V.
Sharykin A.
Khokhlova M.
Pachina A.
Vybornov V.
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Russian Journal of Cardiology |
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0 |
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© Russian Journal of Cardiology. In the article, an analysis provided of recent views on the overtraining syndrome by the data from local and foreign publications. The witness of the problem actuality is also an existence of controversial opinions and absence of clear definitions on properties of the condition. It has been revealed that the main role in pathogenesis of the overtraining syndrome do play the changes of cardiovascular, endocrine and central nervous systems. These changes are complicated and ambiguous, depend upon multiple factors, as the type of sport, specifics of exertion and loads, stage of pathophysiological process. Entraining effect of exertion, if incorrectly utilized, underestimation of current condition of a sportsman, might not lead to expected results. Moreover, non-rational application of exertion might lead to opposite effect, that is, to decrease adaptation potential and reserves, towards the edge of the condition as an overtraining syndrome, which shows phasic, progressing character, starting from fatigue and mild disorders, to persistent, rigidly reversible processes. Due to controversy, multiple stages and multifactorial of the overtraining syndrome, by now there is no unified approach to its definition, as no unified standards to its diagnostics, treatment and prevention.
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Triple antihypertensive therapy: Focus on efficacy and prognosis
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01.01.2018 |
Ostroumova O.
Kochetkov A.
Starodubova A.
Goloborodova I.
Smolyarchuk E.
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Rational Pharmacotherapy in Cardiology |
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0 |
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© 2018 Stolichnaya Izdatelskaya Kompaniya. In the article, with regard to current clinical recommendations, the place of combined antihypertensive therapy, especially triple drugs regimens, is considered in the treatment of patients with arterial hypertension. Special focus is given to the body of evidence for the efficacy of valsartan and amlodipine, as the reference drug of angiotensin II receptor blockers and calcium channel blockers, respectively. Not only their high antihypertensive properties are demonstrated, but also a favorable effect on target-organ protection and prognosis is described. In particular, the possibilities of valsartan in reducing the severity of left ventricular hypertrophy and microalbuminuria are described, and its unique properties in the class of sartans that allow the use of this drug in patients with ischemic heart disease and chronic heart failure are emphasized. Data on the antiatherosclerotic effects of amlodipine and its proven ability to reduce cardiovascular risk are presented. Current data are presented about their use in a fixed-dose combination with hydrochlorothiazide, including real clinical practice settings. The evidence base of high clinical efficacy, safety and metabolic neutrality of the triple combination of antihypertensive drugs valsartan, amlodipine and hydrochorothiazide is presented. The issues of increasing adherence of patients to treatment when prescribing fixed-dose combinations are considered. An algorithm for the selection of antihypertensive drugs in the form of monotherapy and combination therapy of two or three drugs depending on the clinical situation (the presence of certain target-organs damages and associated clinical conditions, primarily ischemic heart disease, atherosclerosis of carotid arteries and chronic heart failure) and the severity of the additional risk of cardiovascular complications..
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Scleromyxedema as a systemic disease of glycosaminoglycan accumulation
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01.01.2018 |
Radenska-Lopovok S.
Volkova P.
Gorodetsky V.
Egorova O.
Ananyeva L.
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Arkhiv Patologii |
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0 |
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© 2018 Media Sphera Publishing Group. All rights reserved. Scleromyxedema is a rare mucinosis with a primary skin lesion due to diffuse mucin deposition, sclerosis, and lichenoid eruptions in the absence of hypothyroidism. The paper describes scleromyxedema cases and gives recommendations for the histological diagnosis of the disease by histochemical reactions to detect acid and neutral glycosaminoglycans.
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The morphological and molecular biological signs of impaired endometrial receptivity in infertility in women suffering from external genital endometriosis
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01.01.2018 |
Paramonova N.
Kogan E.
Kolotovkina A.
Burmenskaya O.
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Arkhiv Patologii |
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2 |
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© 2018 Media Sphera Publishing Group. All rights reserved. Objective - to study endometrial receptivity in infertile women with external genital endometriosis (EGE). Subject and methods. Clinical, morphological, immunohistochemical, and molecular genetic examinations of endometrial aspiration pipelle biopsy specimens obtained on days 22-24 of the menstrual cycle from 94 infertile women with endometriosis: 50 women with Stage I-II EGE and 44 women with ovarian endometrioid cysts (OEC). A control group consisted of 54 women with tubal peritoneal factor of infertility (TPFI) and a successful attempt at IVF. Hematoxylin and eosin-stained sections were found to contain a number of endometrial surface epithelial cells containing mature pinopods. The expression levels of leukemia inhibitory factor (LIF), HOXA-10, glycodelin A, avβ3 integrin, estrogen receptors (ER) and progesterone receptors (PR), aromatase in the superficial epithelium, glandular epithelium and endometrial stroma were immunohistochemically revealed. Forty-four patients, including 17 with Stage I-II EGE and 27 with TPFI, showed mRNA expression levels of leukemia inhibitory factor receptor (LIFR), LIF, ER1, PgR, HOXA-10, and PTEN by real-time quantitative polymerase chain reaction (PCR) with a preliminary reverse transcription PCR assay. Results. It was established that in the infertile women with Stage I-II EGE and those with OEC, endometrial receptivity was impaired, which was manifested by a decline in the number of superficial epithelial cells containing mature pinopods, as well as a decrease in the endometrial level of the key receptivity markers: αvβ3 integrin, LIF, glycodelin A, and HOXA10 and increases in the synthesis of aromatase and in the imbalance of endometrial stromal expression of ER and PR detected by immunohisto chemistry (IHC). Molecular genetic study showed lower mRNA expression levels of the HOXA-10, LIFR, and PgR genes, which confirms the data obtained by IHC. Conclusion. To assess the role of the endometrium in the development of infertility in women with EGE, it is necessary to conduct morphological and IHC studies of the molecular markers of receptivity, by determining the status of pinopods of the endometrial surface epithelium during the window of implantation.
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New aspects of sepsis and septic shock pathogenesis in children. The complement system as target for an effective therapy
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01.01.2018 |
Prodeus A.
Ustinova M.
Korsunskiy A.
Goncharov A.
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Russian Journal of Infection and Immunity |
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0 |
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© 2018 Saint Petersburg Pasteur Institute. All rights reserved. Nowadays sepsis is grave complication of infection end the cause of death reanimation. In this survey, we would like to emphasize the importance of the control over the activation over the compliment system. It has been proved of animal model a complement one of the key role in the development of hyperactive immunity response, later resulting in violation of immunity homeostasis. Mice which had C3-/-, C4-/-deficit, aft receiving a LPS dose intraperitoneallis showed a better survival to compare with the control group of animals. There exist clinical data which confirm active participation of the compliment in the chain of the septic process. The research showed the patient affected by sepsis, had protein C3 and C4 concentration correlating which mortality at the time of diagnosis. The is chemoattractants, protein C3a and C5a, turn tube the result of complements pathway activation. The chemoattractants, provoke the extraction a big number of cytokines. Vessels permeability increase and DIC-syndrome activation wis it, multiple organ dysfunction develops. Ishemiareperfusion launch triggers aseptic inflammation, which appears decentralization and DIC-syndrome. C1-INH controls the work of classical way complement and Hemostasis System. Researchers the deficit in C1-INH animals and patients affected bay sepsis, which is proved in laboratory and clinics. The remedy C1-INH (Berinert, CSL Behring) appeared over 25 years ago and was used and therapy hereditary angioedema. For the lasted years we accumulated a considerable quantity of fasts of C1-INH use which after pathologies: heart attack, Ischemia-reperfusion injury, trauma provoked by cardiopulmonary bypass. The use of C1-INH on animal models septic in clinical research their efficacy and safety.
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Bruxism as a neurological problem (literature review)
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01.01.2018 |
Orlova O.
Alekseeva A.
Mingazova L.
Konovalova Z.
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Nervno-Myshechnye Bolezni |
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1 |
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© 2018 ABV-Press Publishing House. All rights reserved. Bruxism is stereotypical movements of the mandibula accompanied by grinding or clenching of teeth. Bruxism has 2 circadian manifestations: during sleep (nocturnal bruxism) and during wakefulness (diurnal bruxism). Etiology of the disease is unclear but occlusal disharmony, stress management, basal ganglia dysfunction, and genetic factors are being discussed. An association between bruxism and other motor disorders such as Parkinson's disease, oromandibular dystonia, Huntington's disease, as well as some drugs, is observed. For bruxism diagnosis, questionnaires, clinical examination, polysomnography, electromyography, and brux checkers are used. The leading treatment method for bruxism and accompanying dysfunction of the temporomandibular joint is local administration of botulinum neuroprotein into the temporal, masseter, and lateral pterygoid muscles.
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The application of the screening techniques for the purpose of chemical toxicological and forensic chemical analysis
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01.01.2018 |
Rodionova G.
Belova M.
Ramenskaya G.
Petukhov A.
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Sudebno-Meditsinskaya Ekspertiza |
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0 |
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© 2018 Lippincott Williams and Wilkins. All rights reserved. The application of the screening techniques for the purpose of chemical toxicological and forensic chemical analysis has the objective to detect and identify the life-threatening substances within the shortest possible time period for distinguishing them from a large number of other chemical compounds amenable to the toxicological evaluation. Such methods acquire special importance for forensic chemical expertise in the cases of a negative result of the primary examination. The present article provides information about the history of development of the screening techniques.
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IDH1- and IDH2-mutations in brain glial tumors — The new antioncogenic mechanism
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01.01.2018 |
Demyashkin G.
Nikitin P.
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Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova |
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0 |
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© 2018, Media Sphera Publishing Group. All Rights Reserved. Mutant forms of the gene IDH1 progress significantly slower, have a lower risk of neoplastic transformation, and generally, mutations of this gene have a pronounced anti-oncogenic effect. At the same time, almost all mutations are quite stereotyped (98,9%) and occur in the same region of the gene — R132H mutations. IDH1 gene mutations is a complex multi-layered process, which is a completely new, not previously described anti-oncogene activation mechanism of intracellular protection. The reason that there is a mutation in the tumor cells is associated with de novo blocking differentiation processes and development of brain cells in the development process, as evidenced by severe cerebral hypoplasia in patients with congenital forms of this mutation. A completely new mechanism of antitumor protection has been described — stereotypical IDH1 gene mutation is a gene, in fact, is a key event, causing a cascade of further anti-oncogenic mechanisms in brain gliomas.
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Differences between α-linolenic and linoleic acid supplementation on the redox status and cardiodynamic parameters of male and female Wistar albino rats
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01.01.2018 |
Radoman K.
Živković V.
Nikolić T.
Stojić I.
Raičević D.
Jeremić J.
Srejović I.
Jakovljević V.
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Archives of Biological Sciences |
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0 |
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© 2018 by the Serbian Biological Society. The aim of present study was to investigate the difference between α-linolenic acid (ALA, omega-3) and linoleic acid (LA, n-6) on the redox status and cardiac function of the isolated rat heart. ALA or LA were administered for 6 weeks by gavage to all animals, which were randomly divided into 4 groups: male rats treated with a linoleic acid (M-LA), dose of 7.3 mg/kg/day; female rats treated with a linoleic acid (F-LA), dose of 7.3 mg/kg/day; male rats treated with an α-linolenic acid (M-ALA), dose of 165 mg/kg/day; female rats treated with α-linolenic acid (F-ALA), dose of 165 mg/kg/day. Using the Langendorff technique, markers of heart function were evaluated: the maximum and minimum rates of pressure development in the left ventricle (LV; dp/dt max, dp/dt min), systolic and diastolic left ventricle pressure (SLVP, DLVP, respectively), heart rate (HR) and coronary flow (CF). We measured the concentrations of prooxidative markers: nitrites (NO2-), superoxide anion radicals (O2-) and hydrogen peroxide (H2O2), as well as the index of lipid peroxidation (TBARS) in the plasma and effluent. In the lysate, we measured the concentrations of reduced glutathione (GSH), catalase (CAT) and superoxide dismutase (SOD). ALA more negatively influenced the isolated rat heart, especially in females. In contrast, the administration of LA was linked to more prominent oxidative stress, while the application of ALA was associated with improved activity of the antioxidative defense system (with better values in males).
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Laparoscopic radical hysterectomy for stages IA2 and IB cervical cancer
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01.01.2018 |
Ovodenko D.
Khabas G.
Makarova A.
Sheshko P.
Sannikova M.
Pirogova M.
Golitsyna Y.
Mamedov S.
Grigoryev V.
Ashrafyan L.
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Akusherstvo i Ginekologiya (Russian Federation) |
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0 |
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© Bionika Media Ltd. Objective. To assess the immediate results of laparoscopic radical hysterectomy for Stages IB2 and IIB cervical cancer (after neoadjuvant chemotherapy) and for the early stages of the disease. Material and methods. The paper presents the results of treating 59 patients with cervical cancer who have undergone Piver type III laparoscopic radical hysterectomy, including 33 patients with early stages (IA2, IB1, IIA1) of the disease and 26 patients with its locally advanced forms (IB2, IIA2, IIB) after neoadjuvant chemotherapy. Results. The histopathological parameters of radical surgery (the number of lymph nodes, the level of removal of the parametrium and a vaginal cuff) did not differ at the early and locally advanced stages of cervical cancer. Conclusion. Laparoscopic radical hysterectomy after neoadjuvant chemotherapy for Stages IB2–IIB cervical cancer is an effective method for the surgical treatment of patients.
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Electrical conductivity of the nanocomposite layers for use in biomedical systems
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01.01.2018 |
Ichkitidze L.
Gerasimenko A.
Podgaetsky V.
Selishchev S.
Dudin A.
Pavlov A.
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Materials Physics and Mechanics |
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4 |
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© 2018, Peter the Great St. Petersburg Polytechnic University. Nanocomposite layers consisting of an acrylic paint and single-walled carbon nanotubes (∼1.5 wt.%) have been investigated. The investigated samples had a disk shape with a diameter of 20-30 mm and a thickness of 2-50 μm. After exposure in water for 350 h, the layer mass remained almost invariable (a mass loss of ≤ 1.5%) and the layer samples exhibited high adhesion to glass substrates and a conductivity of ∼ 40 S/m. The layers consisting of the nanotubes and acrylic paint exfoliated from the substrates for ∼1 h. After heat treatment at a temperature of 140 °C, all the layers exhibited a semiconductor-type temperature dependence of the resistance. The prospects of using these layers in various medical products, e.g. implants for wireless energy transmission, have been discussed.
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The use of a specialized food product based on fermented milk whey to enhance the adaptive potential of athletes (skiers-riders)
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01.01.2018 |
Litvin F.
Bruk T.
Klochkova S.
Kalosha A.
Nikityuk D.
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Voprosy Pitaniia |
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1 |
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© 2018 Nutritec. All rights reserved. Specialized sports nutrition is one of the most important factors in the extension of the functional potential of athletes, providing adaptive resistance to physical stress, which determines the high physical performance and prolongs athletic longevity of the athletes. The study involved 30 skiers-racers (the average age of 19.5±1.8 years). 12 skiers of the main group within 21 days consumed a specialized food product, obtained on the basis of fermented milk whey containing amino acids, several vitamins, minerals and trace elements, live culture of lactic acid bacteria: L. lactis, L. thermophilus, L. bulgaricus (1.2 × 10s CFU/cm3). The control group consisted of 18 skiers, those taking the placebo (food starch of the same consistency). After a course of product intake, blood level of hemoglobin increased by 6%, of leukocytes - by 10% due to an increase in the number of granulocytes by 32%, and segmented neutrophils by 16% (p<0.05), there was a tendency to increase the number of red blood cells by 7% with a significant decrease in lymphocyte count by 19%. Erythrocyte sedimentation rate in blood of the skiers from the comparison group increased by 41% (p<0.05), while in the athletes of the main group it decreased by 16% (p>0.05). After product intake it has been established by the method of laser Dopplerflowmetry that there was a tendency to increase blood perfusion by 15%, a statistically reliable increase in the flux by 53%, which is based on the improvement of the internal mechanisms of microcirculation regulation. According to the mathematical analysis of cardiac rhythm, centralization of regulation decreased while the activity of an autonomous mechanism for controlling the work of the heart increased. The revealed functional changes ensured an increase of absolute (by 31%, p<0.05) and relative (by 33%, p<0.05) physical performance and aerobic endurance of skiers, contributed to the improvement of short-Term memory. The conclusion is made about the expediency of the intake of the specialized food product to enhance the adaptive capacity of athletes under the influence of systematic physical loads.
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Antiretrovirus therapy - A new epoch of prevention of HIV infection
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01.01.2018 |
Tursunov R.
Kanestri V.
Simonova E.
Raichich R.
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HIV Infection and Immunosuppressive Disorders |
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1 |
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© 2018. Modern medicine, relying on a verified strategy and consistent approach, has proved that to date, HIV infection, thanks to effective antiretroviral therapy, has evolved from a category of incurable and deadly diseases into a nosology potentially controlled by medical and diagnostic measures. Moreover, as shown by numerous studies, not only clinical, but also the population effect has been achieved. The life expectancy of HIV-infected people has increased, its quality has significantly improved, and the number of potential sources of infection has decreased. The concept of «treatment as prevention» at the present stage becomes an integral part of the complex of measures to combat HIV infection, since the early onset of ART can significantly reduce the risk of transmission of the pathogen, as well as the level of AIDS-associated morbidity and mortality. In addition to ART, the principles of comprehensive prevention remain unshakable, taking into account the modern epidemiological features of HIV infection.
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Theories of personality traits and essential arterial hypertension: History and modern times
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01.01.2018 |
Zinchenko Y.
Pervichko E.
Ostroumova O.
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Nevrologiya, Neiropsikhiatriya, Psikhosomatika |
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0 |
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© 2018 Ima-Press Publishing House. All rights reserved. The paper analyzes the concepts of personality profiles and demonstrates the possibility of applying this approach to comparatively assessing the psychological characteristics of patients with essential arterial hypertension (EAH). It sets forth the fundamentals of the concepts by F. Alexander, H.F. Dunbar, M. Friedman, and R. Rosenman, which emphasize the importance of emotional, personal, and behavioral factors for the etiology and pathogenesis of EAH and analyzes in detail the psychological study of the characteristics of the so-called type D (distressed) personality that is characterized by a combination of the predominance of negative emotions, social isolation, and inability to regulate these factors. The authors present the results of their own empirical study of personal characteristics (through the Cattel's 16 personality factors questionnaire) in patients with office hypertension (OH) versus those with classical EAH and healthy individuals. OH patients are shown to be significantly less sociable, less emotionally stable, more overwrought and shy, and more prone to self-control and feelings of guilt. The experimental psychological study (by simulating of emotional stress and by using the modified variant of the procedure developed by S. Rosenzweig to examine frustration reactions) has revealed that the patients with OH tend to experience the most intense negative sthenic emotions and they significantly more frequently resort to repression of these emotions. The findings prove that the EAH group is e heterogeneous and confirm the assumption that OH patients show negative affectivity and lower social activity.
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Possibilities of contrast-free magnetic resonance perfusion imaging for the detection of early brain damage in essential hypertension
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01.01.2018 |
Ostroumova T.
Parfenov V.
Ostroumova O.
Perepelova E.
Perepelov V.
Borisova E.
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Nevrologiya, Neiropsikhiatriya, Psikhosomatika |
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5 |
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© 2018 Ima-Press Publishing House. All rights reserved. Arterial spin labeling (ASL) is a promising non-invasive method to assess cerebral perfusion, which identifies a decrease in cerebral blood flow (CBF). Objective: to assess cerebral perfusion in middle-aged untreated patients with uncomplicated grade 1-2 hypertension compared to same-age healthy controls. Patients and methods. 33 patients with essential hypertension and 40 healthy individuals (a control group) at the age of 40-59 years were examined. 24-hour blood pressure (BP) monitoring and brain magnetic resonance imaging were performed in different modes (T1 MPRAGE, T2 TSE, T2 FLAIR, DTI, and ASL). Results. White matter hyperintensive changes were found in 7.5% of the healthy individuals and in 51.5% of the hypertensive patients (p = 0.0002). In hypertensive patients, CBF in the cortical plate of anterior frontal regions was significantly (p ( 0.001) lower than that in the controls: right CBF, 39.1±5.6 and 45.8±3.2 ml/100 g/min, respectively; left CBF, 39.2±6.2 and 45.2±3.6 ml/100 g/min, respectively. In hypertensive patients with white matter hyperintensive changes, CBF was significantly lower than that in the controls: right CBF, 38.5±5.9 ml/100 g/min (p = 0.0001); left CBF, 39.2±6.7 ml/100 g/min (p = 0.002), and in those without these changes, right CBF was 39.5±5.1 ml/100 g/min (p = 0.0002); left CBF was 38.9±4.3 ml/100 g/min (p = 0.00002). Correlation analysis revealed significant inverse correlations of CBF with BP and systolic BP variability. Conclusion. Lower cerebral perfusion occurs in middle-aged untreated patients with uncomplicated grade 1-2 hypertension even in the absence of white matter hyperintensity foci.
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Cognitive impairment in anxiety disorders
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01.01.2018 |
Volel B.
Petelin D.
Akhapkin R.
Malyutina A.
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Nevrologiya, Neiropsikhiatriya, Psikhosomatika |
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1 |
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© 2018 Ima-Press Publishing House. All rights reserved. Anxiety disorders are an important biomedical problem due to the high prevalence and significant negative impact on the quality of life and the course of concomitant somatic and neurological diseases. Cognitive impairment (CI) is one of the most intensively studied aspects of pathological anxiety. Impairments in attention, executive functions, memory, cognitive deficit, as well as abnormal cognitions and metacognitions are identified in anxiety disorders. Moreover, the treatment of the latter with the most frequently used drugs (antidepressants, atypical antipsychotics, anticonvulsants, tranquilizers) does not lead to a significant improvement in cognitive functions, and often contributes to their worsening. In this connection, in addition to psychotherapy, cognitive function-improving agents play a large role in treating anxiety diseases associated with cognitive dysfunction. Ginkgo Biloba extract (EGb 761, Tanakan®) that positively affects cognitive functions, especially in the domains of memory, concentration and attention deserves special attention.
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The possibility of neoplastic transformation of ovarian endometriosis
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01.01.2018 |
Gromova T.
Sheshukova N.
Bolshakova O.
Zayratyants O.
Levakov S.
Fedotov E.
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Akusherstvo i Ginekologiya (Russian Federation) |
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1 |
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© 2018, Bionika Media Ltd. All rights reserved. Objective. To investigate the signs of neoplastic transformation of the epithelium in the foci of ovarian endometriosis (OE). Material and methods. Histological and immunohistochemical examinations were used to study 78 and 35 OE cases, respectively, and 8 adenocarcinomas. Anti-Ki-67, anti-Bcl-2, anti-p53, and anti-hepatocyte nuclear factor-1β (HNF-1s) antibodies were employed. Results. The epithelium of endometrioid cyst walls showed papillary syncytial changes (39.7%), metaplasia with clear cytoplasm сells (15.4%), and epithelial atypia with a low-to-relatively low Ki-67 and Bcl-2 expression and with a low p53 expression (41.0%). The expression of HNF-1β in the foci with and without atypia was revealed in 94.7 and 56.3% of cases, respectively; it was detected only in clear cell adenocarcinomas. Conclusion. HNF-1s hyperexpression suggests the adaptive nature and histogenetic relationship of OE to clear cell tumors of the ovary.
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The dynamics of the dimensional characteristics of the sella turcica in the subjects above 20 years of age
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01.01.2018 |
Pigolkin Y.
Ametrin M.
Zolotenkova G.
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Sudebno-Meditsinskaya Ekspertiza |
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0 |
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© 2018 Media Sphera Publishing Group. All rights reserved. The objective of the present study was to determine the biological age of the unidentified dead subjects based on the morphometric characteristics of the sella turcica in comparison with other methods available for the purpose in order to narrow the range of the alleged ages of the human remains being examined. The parameters of the sella turcica were measured in the corpses immediately after cephalotomy provided no pathological changes could be identified in the sellar region. A total of 86 skulls of the Caucasoid subjects representing the Eastern-Slavic group at the age varying from 22 to 87 years were available for the examination. The study has demonstrated the undulating dynamics of dimensional characteristics of the sellae turcica during the course of a lifetime. The regression analysis was employed to predict the age of the subjects above 22 years of age based on the measurements of the length and depth of the sella turcica and to classify the sample of interest within a given age period. It is concluded that the morphometric characteristics of the sells turcica can be used as the additional clues for the purpose of age determination in forensic medical investigations.
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Genotype-phenotype correlations of the course of cystic fibrosis in Russian children. the first description of eleven new mutations
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01.01.2018 |
Gorinova Y.
Savostyanov K.
Pushkov A.
Nikitin A.
Pen'Kov E.
Krasovskiy S.
Simonova O.
Namazova-Baranova L.
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Voprosy Sovremennoi Pediatrii - Current Pediatrics |
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0 |
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© 2018 Publishing House of the Union of Pediatricians. All rights reserved. Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features of cystic fibrosis. Objective. Our aim was to identify genotype-phenotype correlations between mutations of the first class of pathogenicity and clinical manifestations of cystic fibrosis based on studying the prevalence and structure of CFTR gene mutations. Methods. The study included children under 18 years with cystic fibrosis admitted to hospital between 2013 and 2017. Biallelic mutations in the CFTR gene were the non-inclusion criterion. The CFTR gene variants were analyzed by next-generation sequencing method. Results. In 125 patients with cystic fibrosis, 59 different variants of the CFTR gene were detected, 11 of them not previously described. The most common was the deletion c.1521-1523del found in 98 (39.2%) of the 250 analyzed CFTR gene alleles and the deletion c.1545-1546del found in 22/250 (8.8%) alleles. It has been shown that the mutation c.1545-1546del, p.Y515∗ was more often found in children of the Chechen nation-odds ratio (OR) 139 (95% confidence interval 15-1,257). It has been established that meconium ileus, pancreatic deficiency and cirrhosis are more common in patients with mutations of the first category of pathogenicity: OR 3.9 (95% CI 1.0-15.0), 4.4 (95% CI 1.8-11.1), and 351 (95% CI 17.5-7,046), respectively. The association of CFTR gene mutations with the development of bronchiectases and polypous pancinusitis has not been found. Conclusion. Correlations between the genotype and clinical manifestations of cystic fibrosis in Russian children with CFTR gene mutations of the first class of pathogenicity have been established.
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Systemic lupus erythematosus: Clinical recommendations. Part 1
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01.01.2018 |
Alexeeva E.
Dvoryakovskaya T.
Nikishina I.
Denisova R.
Podchernyaeva N.
Sukhorukikh O.
Shubina L.
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Voprosy Sovremennoi Pediatrii - Current Pediatrics |
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1 |
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© 2018 Publishing House of the Union of Pediatricians. All rights reserved. The article presents current data on the etiology, pathogenesis, and epidemiology of systemic lupus erythematosus (SLE). The SLE diagnosis details are considered with a description of each examination technique. Moreover, an assessment of reliability level of both evidence and recommendations for each thesis-recommendation are discussed thoroughly. The aspects of differential diagnosis and criteria for the diagnostic quality of SLE are revealed.
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