Genetics of Isolated Hypogonadotropic Hypogonadism: Role of GnRH Receptor and Other Genes

Hypothalamic gonadotropin releasing hormone (GnRH) is a key player in normal puberty and sexual development and function. Genetic causes of isolated hypogonadotropic hypogonadism (IHH) have been identified during the recent years affecting the synthesis, secretion, or action of GnRH. Developmental defects of GnRH neurons and the olfactory bulb are associated with hyposmia, rarely associated with the clinical phenotypes of synkinesia, cleft palate, ear anomalies, or choanal atresia, and may be due to mutations of KAL1, FGFR1/FGF8, PROKR2/PROK2, or CHD7. Impaired GnRH secretion in normosmic patients with IHH may be caused by deficient hypothalamic GPR54/KISS1, TACR3/TAC3, and leptinR/leptin signalling or mutations within the GNRH1 gene itself. Normosmic IHH is predominantly caused by inactivating mutations in the pituitary GnRH receptor inducing GnRH resistance, while mutations of the β-subunits of LH or FSH are very rare. Inheritance of GnRH deficiency may be oligogenic, explaining variable phenotypes. Future research should identify additional genes involved in the complex network of normal and disturbed puberty and reproduction

Разработка измерительного преобразователя радиационного измерителя поверхностной плотности экранного покрытия

Работа направлена на разработку преобразователя радиационного измерителя, позволяющего осуществлять технологический контроль нанесения защитного покрытия при наличии доступа только с одной стороны.The work is aimed at the development of a radiation meter converter, which allows the technological control of the application of protective coatings in the presence of access only on one side

Differential phenotyping of Brucella species using a newly developed semi-automated metabolic system

<p>Abstract</p> <p>Background</p> <p>A commercial biotyping system (Taxa Profile™, Merlin Diagnostika) testing the metabolization of various substrates by bacteria was used to determine if a set of phenotypic features will allow the identification of members of the genus <it>Brucella </it>and their differentiation into species and biovars.</p> <p>Results</p> <p>A total of 191 different amines, amides, amino acids, other organic acids and heterocyclic and aromatic substrates (Taxa Profile™ A), 191 different mono-, di-, tri- and polysaccharides and sugar derivates (Taxa Profile™ C) and 95 amino peptidase- and protease-reactions, 76 glycosidase-, phosphatase- and other esterase-reactions, and 17 classic reactions (Taxa Profile™ E) were tested with the 23 reference strains representing the currently known species and biovars of <it>Brucella </it>and a collection of 60 field isolates. Based on specific and stable reactions a 96-well "<it>Brucella </it>identification and typing" plate (Micronaut™) was designed and re-tested in 113 <it>Brucella </it>isolates and a couple of closely related bacteria.</p> <p><it>Brucella </it>species and biovars revealed characteristic metabolic profiles and each strain showed an individual pattern. Due to their typical metabolic profiles a differentiation of <it>Brucella </it>isolates to the species level could be achieved. The separation of <it>B. canis </it>from <it>B. suis </it>bv 3, however, failed. At the biovar level, <it>B. abortus </it>bv 4, 5, 7 and <it>B. suis </it>bv 1-5 could be discriminated with a specificity of 100%. <it>B. melitensis </it>isolates clustered in a very homogenous group and could not be resolved according to their assigned biovars.</p> <p>Conclusions</p> <p>The comprehensive testing of metabolic activity allows cluster analysis within the genus <it>Brucella</it>. The biotyping system developed for the identification of <it>Brucella </it>and differentiation of its species and biovars may replace or at least complement time-consuming tube testing especially in case of atypical strains. An easy to handle identification software facilitates the applicability of the Micronaut™ system for microbiology laboratories.</p

Low fertility and population replacement in Scotland

It has been argued that Scotland faces population ageing and decline that will have potentially serious economic and social consequences, and that the origin of these processes lie in its low and declining fertility rates. After considering alternatives to the total period rate measure of fertility, empirical evidence and theoretical argument about low fertility and its consequences is briefly reviewed. The paper argues that low fertility in general may not be the problem it is often purported to be, that Scotland has relatively high fertility, and that pro-natalist policies are neither desirable nor necessary. It suggests that low fertility and population ageing may be viewed as positive developments, and that within Europe, Scotland is distinguished more by its excess of early deaths than by any shortage of births.Peer reviewe

Thrombocytopenia and Acute Renal Failure in Puumala Hantavirus Infections

Low platelet counts are a novel predictive marker suitable for risk-adapted patient management

Позиционный электропривод механизма перемещения

Объектом исследования является позиционный асинхронный электропривод механизма горизонтального перемещения груза. Цель работы – исследовать основные характеристики асинхронного электропривода с трехконтурной системой управления положением вала двигателя. В процессе исследования проводились выбор асинхронного двигателя для механизма перемещения, расчет параметров двигателя, его статических и динамических характеристик, выбор преобразователя частоты, синтез трехконтурной системы управления следящим электроприводом на базе регулируемого с векторным управлением.The object of the study is a positional asynchronous electric drive mechanism for the horizontal movement of cargo. The purpose of the work is to investigate the basic characteristics of an asynchronous electric drive with a three-circuit control system for positioning the motor shaft. In the process of research, the choice of an asynchronous motor for the displacement mechanism, calculation of the engine parameters, its static and dynamic characteristics, choice of a frequency converter, synthesis of a three-circuit control system for a servomotor drive based on an adjustable vector control were made