SIRT1 Allele Frequencies in Depressed Patients of European Descent in Russia

Depressive disorder (DD) is a widespread mental disorder. Although DD is to some extent inherited, the genes contributing to the risk of this disorder and its genetic mechanisms remain poorly understood. A recent large-scale genome-wide association Chinese study revealed a strong association between the SIRT1 gene variants and DD. The aim of this study was to analyze the occurrence of heterozygote carriers and search for rare SNP variants of the SIRT1 gene in a cohort of DD patients as compared with a cohort of randomly selected members of the Russian population. The complete coding sequences of the SIRT1 gene from 1024 DNA samples from the general Russian population and from 244 samples from patients with DD were analyzed using targeted sequencing. Four new genetic variants of the SIRT1 were discovered. While no significant differences in the allele frequencies were found between the DD patients and the general population, differences between the frequencies of homozygote carriers of specific alleles and occurrences of heterozygous were found to be significant for rs2236318 (P < 0.0001), and putatively, rs7896005 (P < 0.05), and rs36107781 (P < 0.05). The study found for the first time that two new SNPs (i.e., 10:69665829 and 10:69665971) along with recently reported ones (rs773025707 and rs34701705), are putatively associated with DD. The revealed DD-associated SIRT1 SNPs might confer susceptibility to this disorder in Russian population of European descent

Higher borides and oxygen-enriched Mg-B-O inclusions as possible pinning centers in nanostructural magnesium diboride and the influence of additives on their formation

The study of high pressure (2 GPa) synthesized MgB2-based materials allows us to conclude that higher borides (with near MgB12 stoichiometry) and oxygen-enriched Mg-B-O inclusions can be pinning centers in nanostructural magnesium diboride matrix (with average grain sizes of 15-37 nm). It has been established that additions of Ti or SiC as well as manufacturing temperature can affect the size, amount and distribution of these inclusions in the material structure and thus, influence critical current density. The superconducting behavior of materials with near MgB12 stoichiometry of matrix is discussed.Comment: 4 pages, 1 figues, presented at VORTEX VI-2009, accepted for Physica

ПРОГРАММИРОВАНИЕ ДВУХБИТНОГО PIN-ДИОДА В СРЕДЕ SYNOPSYS SENTAURUS TCAD

The article is devoted to the modeling of a two-bit pin-diode. The possibility of programming opening time of the device based on the pin-diode is shown. The design consisting of a pin diode and two floating gates on the surface of i-region is considered. The addition of electrodes to the surface of the i-region makes it possible to regulate the concentration of electrons and holes within the larger limits in compare with the single-gate structure creating enriched and depleted are-as in the structure. Programming is carried out by applying the appropriate voltage to the control electrodes of the floating gates. It is shown that the charge generated on the floating gate changes characteristics of the i-region of the pin diode.The key elements of complex simulation of the two-gate pin diode are simulation of charge accumulation mechanism on the floating gate, simulation of pin-diode opening time and calibration of numerical model. Simulation is performed in Synopsys Sentaurus TCAD. Physical models describing traps and their parameters, particle tunneling, transport phenomena in dielectrics and amorphous films are used in simulation. As a result of modeling, the opening time dependences on size, floating gate location and floating gate charge magnitude are obtained.It is shown that the pin-diode 2-gate structures allow to change the opening time in a wider range than the single-gate ones. To program a large range of pin-diode opening times, it is 2 gate structure that is advisable to use. The obtained results indicate that it is possible to implement a two-bit programming pin-diode and expand its functionality.Статья посвящена моделированию двухбитного pin-диода. Показана возможность программирования времени открытия устройства на основе pin-диода. Рассмотрена конструкция, состоящая из pin-диода и двух плавающих затворов на поверхности i-области. Добавление электродов на поверхность i-области дает возможность регулировать концентрацию электронов и дырок в больших пределах в сравнении с однозатворной структурой, создавая обогащенные и обедненные области в структуре. Программирование осуществляется подачей соответствующего напряжения на управляющие электроды плавающих затворов. Показано, что создаваемый на плавающем затворе заряд изменяет характеристики i-области pin-диода.Важными элементами комплексного моделирования двухзатворного pin-диода являются моделирование механизма накопления заряда на плавающих затворах, моделирование времени открытия pin-диода, калибровка численной модели. Моделирование выполнено в среде Synopsys Sentaurus TCAD. При моделировании были использованы физические модели, описывающие ловушки и их параметры, туннелирование частиц, явления переноса в диэлектриках и аморфных пленках. В результате моделирования получены зависимости времени открытия от размеров, расположения плавающих затворов и значения заряда на плавающих затворах.Показано, что двухзатворные структуры pin-диода позволяют изменять время открытия в более широких пределах, чем однозатворные. Для программирования большого диапазона времен открытия pin-диода целесообразно использовать именно двухзатворные структуры. Полученные результаты свидетельствуют о расширении функциональных возможностей двухзатворной структуры

Pediatric endocrine surgery development

Department of pediatric surgery at the Endocrinology Research Centre has been around for nearly two years. During operation, surgical treatment has received more than 500 patients with various endocrine disorders. The article discusses modern diagnostic approaches and surgical options for diseases included in the new direction of pediatric surgery endocrine surgery in children. There are discussions about options for radical treatment of Graves disease in children, positive and negative aspects of surgical and radioactive iodine treatment. Is own stats of postoperative hyperparathyroidism. Is proposed to optimize the algorithm of actions in identifying thyroid nodules in children. In primary hyperparathyroidism, the emphasis is on the complexity of the postoperative management of patients related to the feature of childrens age in determining the severity of the reactions on the water-electrolyte disorders. Separately reviewed the literature of the adrenal glands diseases in children, demonstrating their own clinical cases which required surgical intervention. The authors describe the possibilities of modern neurosurgical equipment in the Endocrinology Research Centre in operations on the pituitary gland in children. Patients of different age groups performed transnasal transsphenoidal removal of tumors of the chiasm-sellar region using endoscopic assistance. The article also cited research data of pancreas diseases and their surgical treatment. Much attention is paid to the gender section of endocrine surgery in children. Discusses the tactics in disorders of sex development, gonadal tumors in children, diseases of the breast. In conclusion outlines the prospects for the development of endocrine surgery in children

Transfer of chemical elements in vapor-gas streams at the dehydration of secondary sulfates

The elemental composition of vapor-gas streams obtained during heating of secondary hydrous sulfates are presented. Samples of abundant sulfate intergrowth were collected at the Belovo waste heaps and heated at 60ºC in experiments to collect condensates of the releasing vapor-gas streams. A wide spectrum of major and trace elements was determined in the condensate. Chemical elements can be absorbed by the water vapor and migrate with this phase during the dehydration of hydrous sulfates. To determine the mechanisms of migration and the sources of elements in vapor-gas streams, a study of the features of certain hydrous sulphates (antlerite, goslarite, starkeyite, gunningite, siderotile, sideronatrite) by stepwise heating up to 60ºC was conducted. Alteration in the phase composition is controlled by powder X-ray diffractometry. It was determined, that antlerite and starkeite remain stable throughout the temperature range. The beginning of the separation of structural water in goslarite and siderotile occurs at 40°C. Goslarite and sideronatrite at 40°C lost water molecules and transformed to gunningite and Na-jarosite, correspondingly. Structure of siderotile was loosened. The modes of occurrence of the chemical elements in sulfates and pore solution determine the concentrations of elements in the condensates

PROGRAMMING 2-BIT PIN DIODE IN SYNOPSYS TCAD

The article is devoted to the modeling of a two-bit pin-diode. The possibility of programming opening time of the device based on the pin-diode is shown. The design consisting of a pin diode and two floating gates on the surface of i-region is considered. The addition of electrodes to the surface of the i-region makes it possible to regulate the concentration of electrons and holes within the larger limits in compare with the single-gate structure creating enriched and depleted are-as in the structure. Programming is carried out by applying the appropriate voltage to the control electrodes of the floating gates. It is shown that the charge generated on the floating gate changes characteristics of the i-region of the pin diode.The key elements of complex simulation of the two-gate pin diode are simulation of charge accumulation mechanism on the floating gate, simulation of pin-diode opening time and calibration of numerical model. Simulation is performed in Synopsys Sentaurus TCAD. Physical models describing traps and their parameters, particle tunneling, transport phenomena in dielectrics and amorphous films are used in simulation. As a result of modeling, the opening time dependences on size, floating gate location and floating gate charge magnitude are obtained.It is shown that the pin-diode 2-gate structures allow to change the opening time in a wider range than the single-gate ones. To program a large range of pin-diode opening times, it is 2 gate structure that is advisable to use. The obtained results indicate that it is possible to implement a two-bit programming pin-diode and expand its functionality

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Abstract Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35delG prevalence in Russia are mainly restricted to the European part of this country. We aimed to estimate the carrier frequency of c.35delG in Western Siberia and thereby update current data on the c.35delG prevalence in Russia. According to a generally accepted hypothesis, c.35delG originated from a common ancestor in the Middle East or the Mediterranean ~ 10,000–14,000 years ago and spread throughout Europe with Neolithic migrations. To test the c.35delG common origin hypothesis, we have reconstructed haplotypes bearing c.35delG and evaluated the approximate age of c.35delG in Siberia. Methods The carrier frequency of c.35delG was estimated in 122 unrelated hearing individuals living in Western Siberia. For reconstruction of haplotypes bearing c.35delG, polymorphic D13S141, D13S175, D13S1853 flanking the GJB2 gene, and intragenic rs3751385 were genotyped in deaf patients homozygous for c.35delG (n = 24) and in unrelated healthy individuals negative for c.35delG (n = 67) living in Siberia. Results We present updated carrier rates for c.35delG in Russia complemented by new data on c.35delG carrier frequency in Russians living in Western Siberia (4.1%). Two common D13S141-c.35delG-D13S175-D13S1853 haplotypes, 126-c.35delG-105-202 and 124-c.35delG-105-202, were reconstructed in the c.35delG homozygotes from Siberia. Moreover, identical allelic composition of the two most frequent c.35delG haplotypes restricted by D13S141 and D13S175 was established in geographically remote regions: Siberia and Volga-Ural region (Russia) and Belarus (Eastern Europe). Conclusions Distribution of the c.35delG carrier frequency in Russia is characterized by pronounced ethno-geographic specificity with a downward trend from west to east. Comparative analysis of the c.35delG haplotypes supports a common origin of c.35delG in some regions of Russia (Volga-Ural region and Siberia) and in Eastern Europe (Belarus). A rough estimation of the c.35delG age in Siberia (about 4800 to 8100 years ago) probably reflects the early formation stages of the modern European population (including the European part of the contemporary territory of Russia) since the settlement of Siberia by Russians started only at the end of sixteenth century

Additional file 1: of Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Table S1. With detailed data on c.35delG carrier frequencies on the territory of Russia and in some countries of the former Soviet Union which were obtained from all available papers published up to 2018. This file also includes list of references for Table S1. (DOCX 42 kb