ЧАСТОТА ГЕНОТИПІВ ТА АЛЕЛІВ ЗА -204А>C ПОЛІМОРФІЗМОМ ГЕНА СYP7A1 У ОСІБ ІЗ АРТЕРІАЛЬНОЮ ГІПЕРТЕНЗІЄЮ ТА ЦУКРОВИМ ДІАБЕТОМ 2-ГО ТИПУ

SUMMARY. The aim of our study was the definition of alleles and genotypes frequency of -204A>C polymorphism of CYP7A1 gene for patients with arterial hypertension and type 2 diabetes mellitus.Materials and Methods. The I group consisted of 198 obtained patients with type 2 diabetes mellitus and III stage of arterial hypertension, the II includes 152 persons with III stage of arterial hypertension, the III includes 49 practically healthy people. Molecular and genetics methods such as DNA separation from peripheral blood leukocytes, polymerase chain reaction, horizontal electrophoresis were used for determination of -204A>C polymorphism of СУР7А1 promoter region. The results were statistically analyzed by Microsoft Exel 2013 programs with the help of the chi-square test (χ2), the Student's test (t), the reliability of the differences between indicators (p).Results. Among patients from the I group genotype AA was present in 119 persons (60.1 %), AC – 31 (15.7 %), CC – 48 (24.2%); the II group – 112 patients (73.7 %), АС – 10 (6.5 %), СС – 30 (19.7 %); the ІІІ group – 43 persons (87.76 %), АС – 4 (8.16 %), СС – 2 (4.08 %). The frequency of allele A was 91.84 %, C – 8.16 % for the I group; 76.97 % and 23.03 % for the II group (р<0.05), 67.93 % and 32.07 % for the III group (р<0.05). There are the statistically significant differences among genotypes between patients from the I and III groups (χ 2=14,023; р=0.001); II and III groups (χ 2=6.789; р=0.034).Conclusions. After definition of -204A>C polymorphism of CYP7A1 promoter region for patients with type 2 diabetes mellitus and arterial hypertension, CC genotype was ascertained more often by 4.5 % than in patients with arterial hypertension, by 22.7 % than in the control group.РЕЗЮМЕ. Цель – исследовать частоту аллелей и генотипов по -204А>C полиморфизму гена СYP7A1 у лиц с артериальной гипертензией и сахарным диабетом 2 типа.Материалы и методы. В І группу обследованных вошли 198 пациентов с сахарным диабетом 2 типа и артериальной гипертензией ІІІ стадии, во ІІ – 152 больных с артериальной гипертензией III стадии, в ІІІ – 49 условно здоровых лиц. Для исследования полиморфизма -204А>C промоторной области гена СYP7A1 были использованы молекулярно- генетические методы (выделение ДНК из лейкоцитов периферической крови, полимеразную цепную реакцию, горизонтальный электрофорез). Данные были обработаны статистически с помощью программ Microsoft Exel 2013 с использованием теста хи-квадрат (χ2), критерия Стьюдента (t), достоверности различий между показателями (р).Результаты. После исследования полиморфизма -204А>C промоторной области гена СYP7A1 среди пациентов І группы генотип АА был констатирован у 119 лиц (60,1 %), АС – у 31 (15,7 %), СС – у 48 (24,2 %); ІІ – у 112 (73,7 %), 10 (6,6 %), 30 (19,7 %); ІІІ – у 43 (87,76 %), 4 (8,16 %), 2 (4,08 %) соответственно. У лиц ІІІ группы частота аллеля А составила 91,84 %, С – 8,16 %; ІІ – 76,97 % и 23,03 % (р<0,05), ІІІ – 67,93 % и 32,07 % (р<0,05). Найдено статистически значимые различия в распределении генотипов в І и ІІІ группах (χ2=14,023; р=0,001), ІІ и ІІІ группах (χ2=6,789; р=0,034).Выводы. После исследования полиморфизма -204А>C промоторной области гена СYP7A1 у пациентов с сахарным диабетом 2 типа и артериальной гипертензией генотип СС констатировано чаще на 4,5 %, чем у больных артериальной гипертензией, на 22,7 % – чем в группе контроля.Мета - дослідити частоту алелів та генотипів за -204А>C поліморфізмом гена СYP7A1 у осіб із артеріальною гіпертензією та цукровим діабетом 2-го типу Матеріали і методи. У І групу обстежених ввійшли 198 пацієнтів із цукровим діабетом 2-го типу та артеріальною гіпертензією ІІІ стадії, у ІІ – 152 хворих на артеріальну гіпертензію ІІІ стадії, у ІІІ – 49 умовно здорових осіб. Для дослідження поліморфізму -204А>C промоторної ділянки гена СYP7A1 було використано молекулярно-генетичні методи (виділення ДНК із лейкоцитів периферичної крові, полімеразну ланцюгову реакцію, горизонтальний електрофорез). Дані було оброблено статистично за допомогою програм Microsoft Exel 2013 із використанням тесту хі-квадрат (χ2), критерію Стьюдента (t), достовірності розходжень між показниками (р).Результати. Після дослідження поліморфізму -204А>C промоторної ділянки гена СYP7A1 серед пацієнтів І групи генотип АА було констатовано у 119 осіб (60,1%), АС – 31 (15,7%), СС – 48 (24,2%); ІІ – у 112 (73,7%), 10 (6,6%), 30 (19,7%); ІІІ – у 43 (87,76%), 4 (8,16%), 2 (4,08%) відповідно. В осіб ІІІ групи частота алелі А склала 91,84%,  С – 8,16%; ІІ - 76,97% та 23,03% (р < 0,05), ІІІ – 67,93% та 32,07% (р < 0,05). Знайдено статистично значущі відмінності у розподілі генотипів у І та ІІІ групі (χ2 = 14,023; р = 0,001), ІІ і ІІІ групі (χ2 = 6,789; р = 0,034).Висновки. Після дослідження поліморфізму -204А>C промоторної ділянки гена СYP7A1 у пацієнтів із цукровим діабетом 2-го типу та артеріальною гіпертензією генотип СС зустрічався частіше на 4,5%, ніж у хворих із артеріальною гіпертензією, на 22,7%, ніж у групи контролю

Охрана природы в Израиле

In such country as Israel with its high industrialization and urbanization rates the environment protection is of key importance for preserving the biodiversity of nature. Awareness of the need to protect precious natural resources and landscapes of Israel forced to pass numerous laws on protection of nature and wild animals. These laws provide legal basis for protection of environment, natural resources, wild animals, unique nature features and places being of scientific and educational value in this country.Israel locates at the juncture of three continents combining different climatic and botanical regions which have led to appearance of the unique, by diversity and composition, plant and animal world. In Israel you can find 2800 plant varieties (of which 150 are endemics), 8 species of amphibia, 80 species of reptiles, 450 species of birds and 70 species of mammals. For protection of natural biodiversity there were established 224 nature preserves and 203 and historical heritage deserves special mention.In the recent years the governmental and public organizations have focused on development of the programs on environment management for monitoring and ensuring the required quality of water and air and for processing and utilization of solid wastes.Quite spectacular achievements are observed in reintroduction of predatory and bible species, protection of sea turtles, impoundment of the Hula valley and preservation of migratory birds. The government’s initiatives were welcomed by the public that joined in national parks which cover around 23% of the territory of Israel. The nature preserves and national parks represent the whole range of the natural heritage of Israel: Mediterranean forests, coastal and water landscapes, sand dunes, desert and crater landscapes and oases, while the unique archeological these activities. The environmental education, awareness and activities of the society have increased enormously which is proved by the growing number of nongovernmental environmental organizations — from a few in the 1990s to over one hundred nowadays. The greater attention is paid to collection and publication of environmental data.В такой стране, как Израиль, с высокими темпами индустриализации и урбанизации, охрана природы играет важную роль в обеспечении биоразнообразия природной среды. Признание необходимости защиты драгоценных природных и ландшафтных ресурсов Израиля привело к принятию многочисленных законов об охране природы и диких животных. Эти законы обеспечивают юридическое обоснование деятельности по защите окружающей среды, природных ресурсов, диких животных, уникальных уголков природы и мест, представляющих научный и образовательный интерес в Израиле.Географическое положение Израиля на стыке трех континентов, а также соединение различных климатических и ботанических регионов, привели к возникновению уникального по своему обилию и составу растительного и животного мира. Богатство биологического разнообразия Израиля выражается в 2800 видах растений (150 из которых эндемики Израиля), 8 видах земноводных, 80 видах рептилий, 450 видов птиц и 70 видов млекопитающих. Для охраны биоразнообразия природной среды на территории Израиля образовано 224 природных заповедников и 203 национальных парков. В результате около 23% территории Израиля являются охраняемыми природными заповедниками и национальными парками. Вместе заповедники и парки представляют весь спектр природного наследия Израиля — средиземноморские леса, прибрежные и водные ландшафты, песчаные дюны, пустынные и кратерные пейзажи и оазисы — а также его уникальное археологическое и историческое наследие.В последние годы правительственные и общественные организации сосредоточили внимание на разработке программ управления окружающей средой для мониторинга и обеспечения необходимого качества воды, воздуха, переработки и утилизации твердых отходов. Впечатляющие достижения были сделаны в таких областях, как реинтродукция хищных и библейских видов, защита морских черепах, подтопление долины Хула и сохранение перелетных птиц. Инициативы правительства сопровождались растущим участием общественности. Экологическое образование, осведомленность и активность общественности значительно возросли, о чем свидетельствует резкий рост числа неправительственных экологических организаций — от единиц в начале 90-х годов до более ста в настоящее время. Уделяется больше внимания сбору и публикации экологических данных

Heterogeneity of abdominal obesity in patients with cardiovascular diseases

Aim: To assess the content of visceral adipose tissue (VAT) in patients with abdominal obesity and its relationship with metabolic disorders.Material and methods. Patients with abdominal obesity (n=107) were included in the study. All participants had an assessment of anthropometric parameters (height, weight), calculation of body mass index (BMI), proportion of total adipose tissue and VAT (bioimpedance analyzer), high-density lipoprotein cholesterol (HDL-c) levels, triglycerides, fasting blood glucose, epicardial thickness adipose tissue (two-dimensional echocardiography).Results. The median share of VAT (bioimpedance method) was 13%. Patients with abdominal obesity are divided by VAT into 2 groups: ≥14% or ≤13%. Patients with VAT≥14% had significantly higher levels of triglycerides (1.76 [1.27; 2.38] mmol / L) and glucose (6.33 [5.78; 7.87] mmol / L), and below HDL-c levels (0.95 [0.85; 1.21] mmol / L) compared with patients with VAT≤13% (1.32 [1.02; 1.50], 5.59 [5, 11; 6.16] and 1.31 [1.07; 1.58] mmol / L, respectively; p<0.001 for all three comparisons). A significant correlation was found between VAT and triglyceride, glucose and HDL-c levels (r=0.40; r=0.40; r=-0.31, respectively; p<0.001).Conclusion. Persons with abdominal obesity are heterogeneous in the proportion of VAT. The proportion of VAT above the median is associated with metabolic disorders that are significant for the development and progression of atherosclerosis. An increase in BMI in obese individuals is not associated with an increase in VAT and an increase in the severity of metabolic disorders

Assessment of visceral adipose tissue in patients with coronary artery disease using bioelectrical impedance analysis

Aim. To study visceral adipose tissue (VAT) content in patients with coronary artery disease (CAD) using the bioimpedance analysis, to identify metabolic disorders associated with visceral obesity, and to determine the role of individual risk factors in the formation of coronary artery lesions using modern statistical methods.Material and methods. A total of 152 patients were examined (women, 66; men, 86). The median age of patients was 63 [55;69] years. This observational study assessed anthropometric parameters, such as height, weight, body mass index, waist circumference, whole-body fat percentage, and specifically VAT mass, as well as the relationship of these parameters with blood levels of triglycerides, high-density lipoprotein cholesterol (HDL-C) and glucose. Height was measured using a metal height meter RM-1 “Diakoms”. Weight, body mass index, wholebody fat percentage, and VAT mass were measured using the Omron BF-508 body composition monitor (Omron, Japan). Epicardial adipose tissue (EAT) thickness was assessed using two-dimensional echocardiography on a Philips Sonos 5500 ultrasound system (Germany).Results. Bioimpedance analysis revealed a higher VAT content in patients with CAD compared with those without CAD (14 [11;18]% vs 13 [10;14,5]%, respectively (p=0,025)). During the ROC analysis, cut-off values for VAT ≥15% and EAT ≥7,5 mm were identified, associated with a higher risk of CAD. In multivariate analysis, only HDL-C levels were significantly associated with CAD, while at the same time, univariate analysis demonstrated the significance of VAT and EAT in predicting CAD.Conclusion. The results showed that an increased VAT content and low HDL-C level is associated with the presence of CAD

Parity-Violating Hydrodynamics in 2+1 Dimensions

We study relativistic hydrodynamics of normal fluids in two spatial dimensions. When the microscopic theory breaks parity, extra transport coefficients appear in the hydrodynamic regime, including the Hall viscosity, and the anomalous Hall conductivity. In this work we classify all the transport coefficients in first order hydrodynamics. We then use properties of response functions and the positivity of entropy production to restrict the possible coefficients in the constitutive relations. All the parity-breaking transport coefficients are dissipationless, and some of them are related to the thermodynamic response to an external magnetic field and to vorticity. In addition, we give a holographic example of a strongly interacting relativistic fluid where the parity-violating transport coefficients are computable.Comment: 39+1 page

A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site

We recently identified 68 genomic loci where common sequence variants are associated with platelet count and volume. Platelets are formed in the bone marrow by megakaryocytes, which are derived from hematopoietic stem cells by a process mainly controlled by transcription factors. The homeobox transcription factor MEIS1 is uniquely transcribed in megakaryocytes and not in the other lineage-committed blood cells. By ChIP-seq, we show that 5 of the 68 loci pinpoint a MEIS1 binding event within a group of 252 MK-overexpressed genes. In one such locus in DNM3, regulating platelet volume, the MEIS1 binding site falls within a region acting as an alternative promoter that is solely used in megakaryocytes, where allelic variation dictates different levels of a shorter transcript. The importance of dynamin activity to the latter stages of thrombopoiesis was confirmed by the observation that the inhibitor Dynasore reduced murine proplatelet for-mation in vitro

Characterological features of otosclerosis in the Sverdlovsk region

In the Sverdlovsk region surdological consultations show 50 to 60 cases ot otosclerosis per year, which make up 0.37% of all cases of hearing ailments. Approximately 40 patients undergo surgery every year - sparing piston stapedoplastics without dismemberment of the anvil-stapes joint and the stapes muscle tendon. This method of treatment lessens labyrinth oppression in the post-operative period and prevents the possibility of necrosis of the long bone outgrowth of the anvil.На сурдологическом приеме в Свердловской области выявляется 50 - 60 случаев отосклероза в год, что составляет 0,37 % случаев тугоухости. Целью работы явилось изучение динамики развития отосклероза в Свердловской области, анализ результатов хирургического лечения больных и разработка рекомендаций по послеоперационной реабилитации. Около 40 больным ежегодно осуществляется хирургическое лечение - поршневая стапедопластика щадящим способом с сохранением наковальне-стремечкового сочленения и сухожилия стременной мышцы. Данный способ лечения уменьшает риск угнетения лабиринта в послеоперационном периоде и предотвращает возможность некроза длинного отростка наковальни

A Late Role for bmp2b in the Morphogenesis of Semicircular Canal Ducts in the Zebrafish Inner Ear

BACKGROUND:The Bone Morphogenetic Protein (BMP) genes bmp2 and bmp4 are expressed in highly conserved patterns in the developing vertebrate inner ear. It has, however, proved difficult to elucidate the function of BMPs during ear development as mutations in these genes cause early embryonic lethality. Previous studies using conditional approaches in mouse and chicken have shown that Bmp4 has a role in semicircular canal and crista development, but there is currently no direct evidence for the role of Bmp2 in the developing inner ear. METHODOLOGY/PRINCIPAL FINDINGS:We have used an RNA rescue strategy to test the role of bmp2b in the zebrafish inner ear directly. Injection of bmp2b or smad5 mRNA into homozygous mutant swirl (bmp2b(-/-)) embryos rescues the early patterning defects in these mutants and the fish survive to adulthood. As injected RNA will only last, at most, for the first few days of embryogenesis, all later development occurs in the absence of bmp2b function. Although rescued swirl adult fish are viable, they have balance defects suggestive of vestibular dysfunction. Analysis of the inner ears of these fish reveals a total absence of semicircular canal ducts, structures involved in the detection of angular motion. All other regions of the ear, including the ampullae and cristae, are present and appear normal. Early stages of otic development in rescued swirl embryos are also normal. CONCLUSIONS/SIGNIFICANCE:Our findings demonstrate a critical late role for bmp2b in the morphogenesis of semicircular canals in the zebrafish inner ear. This is the first demonstration of a developmental role for any gene during post-embryonic stages of otic morphogenesis in the zebrafish. Despite differences in the early stages of semicircular canal formation between zebrafish and amniotes, the role of Bmp2 in semicircular canal duct outgrowth is likely to be conserved between different vertebrate species

The neural processing of taste

Although there have been many recent advances in the field of gustatory neurobiology, our knowledge of how the nervous system is organized to process information about taste is still far from complete. Many studies on this topic have focused on understanding how gustatory neural circuits are spatially organized to represent information about taste quality (e.g., "sweet", "salty", "bitter", etc.). Arguments pertaining to this issue have largely centered on whether taste is carried by dedicated neural channels or a pattern of activity across a neural population. But there is now mounting evidence that the timing of neural events may also importantly contribute to the representation of taste. In this review, we attempt to summarize recent findings in the field that pertain to these issues. Both space and time are variables likely related to the mechanism of the gustatory neural code: information about taste appears to reside in spatial and temporal patterns of activation in gustatory neurons. What is more, the organization of the taste network in the brain would suggest that the parameters of space and time extend to the neural processing of gustatory information on a much grander scale