Magistro darbe „Vidurinės mokyklos lietuvių kalbos vadovėlių terminai“, remiantis Bendrosiomis programomis ir išsilavinimo standartais tyrinėjami 3228 kalbotyros, literatūros mokslo bei metodikos terminai, kurie buvo renkami iš III – XII klasių lietuvių kalbos vadovėlių. Šio darbo tikslai yra palyginti lietuvių kalbos vadovėlių terminus, nustatyti terminų dažnumą, pavartojimą skirtinguose koncentruose, išnagrinėti terminų variantiškumą, aptarti terminų sinonimiją ir pateikti tyrimo išvadas. Pirmajame skyriuje visi lietuvių kalbos vadovėliuose rasti terminai lyginami koncentrais. Visa surinkta medžiaga nagrinėjama terminus suskirsčius į kalbotyros, literatūros mokslo, stilistikos, metodikos ir kitų sričių terminus. Kalbotyros terminai smulkiau skirstomi į fonetikos ir akcentologijos, morfologijos ir žodžių darybos, sintaksės terminus. Antrasis skyrius – variantiniai terminai. Analizuojamiems lietuvių kalbos vadovėliams būdingas tik dviejų tipų terminų varijavimas – įvardžiuotinių ir paprastųjų bei ilgųjų ir trumpųjų terminų formų varijavimas. Tiriamoje medžiagoje aptikta 21 variantinių įvardžiuotinių ir paprastųjų terminų pora ir 11 variantinių trumpųjų ir ilgųjų terminų porų. Trečiasis skyrius – sinoniminiai terminai. Lietuvių kalbos vadovėliuose iš viso rastos 55 sinoniminių terminų eilutės. Šiame magistro darbe sinoniminiai terminai aptariami pagal narių kiekį, narių sandarą, kilmę ir rūšį. / Master’s paper “Terms of the Lithuanian language textbooks for secondary school” presents the analysis of 3228 terms of linguistics, literature and methodology, which were found in the Lithuanian language textbooks for school years III-XII. The objective of this paper is to compare terms of the Lithuanian language textbooks, to establish frequency of terms and their usage in different concentres, to analyse variability and synonymy of terms and to present conclusions of the research. In the first chapter all terms found in the Lithuanian language textbooks are compared in concentres. The collected material was researched after grouping terms according to their field (linguistics, literature, stylistics, methodology and other). Terms of linguistics were separated into terms of phonetics, accentology, morphology, word formation and syntax. The second chapter deals with variant terms. Variants of only two types are characteristic to the analysed Lithuanian language textbooks – variations of pronominal and simple forms and long and short forms of terms. 21 pair of variant pronominal and simple terms and 11 pairs of short and long terms were found in the researched material. The third chapter analyses synonymous terms. There were 55 synonymic rows of terms in the researched Lithuanian language textbooks. In this paper synonymous terms were analysed according to the number, structure, origin and type of their members.

Zr-2.5Nb is used as the pressure tube material for 2nd and 3rd generation CANDU reactors. The physical properties of pressure tubes in service, including strength, dimensional stability, and delayed hydride cracking resistance, are largely dependent upon the crystallographic texture of the hcp α-phase, whose texture is predominantly developed during the extrusion stage of manufacturing. During extrusion and subsequent cooling, the formation of α may occur by transformation of the bcc β-phase to α according to the Burgers relationship and influenced by variant selection – that is, a preference for one or more of the twelve possible orientations of the hcp lattice relative to the bcc lattice. Variant selection has been observed in other Zr alloys, including the heat-treated zone in pressure tube welds and the bulk texture of heat-treated pressure tubes. Further, it has been proposed as a possible explanation for texture characteristics in pressure tubes that are not explained by the deformation mechanics of extrusion. However, the criteria for variant selection are unclear. In this work, an understanding of the criteria for variant selection is developed through observations of the differing mechanisms at play during both directions of transformation, from α-β and β-α. Transformation via the Burgers relationship was confirmed; the existence of variant selection is also established. In thermal cycles to the β-regime, this selection manifests as the selection of a new (0002) variant, as driven by anisotropic thermal stresses generated during heating. Upon cooling, the high-temperature β texture is inherited by the α grains via the Burgers relationship; the magnitude of the texture maxima is driven by elastic transformation strains. Further thermal cycles to the β regime demonstrate texture memory, with some development of cubic symmetry due to grain growth during the hold in the β-phase. No texture changes are observed if samples are not heated fully into the beta regime. Finally, a study of the biasing effects of both residual and external stresses is discussed. While the external stress did not appear to be capable of biasing variant selection during either heating or cooling, some texture changes were observed, likely due to deformation at high temperature. / Thesis (Master, Mechanical and Materials Engineering) -- Queen's University, 2010-09-23 20:44:24.784

The genetic architectures of cancer and congenital disorders are heterogeneous and incompletely mapped. Rare and low-frequency variants of incomplete penetrance are emerging as an important class of germline and somatic variation, but their contribution to disease remains poorly characterised. This thesis aims to identify and assess pathogenic mutations in the 1q41q42 microdeletion syndrome, neural tube defects, neuropsychiatric disorders and cancer. Rare microdeletions at the 1q41q42 locus cause a clinically heterogeneous syndrome characterized by developmental delay, characteristic dysmorphic features and brain morphological abnormalities. Examining new and published patients with 1q41q42 microdeletions, we found that TP53BP2, encoding ASPP2, is a strong candidate for being the gene responsible for brain morphological abnormalities of the syndrome. Mice deficient for Trp53bp2 show multiple abnormalities overlapping the features of the 1q41q42 microdeletion syndrome such as dysmorphic lateral ventricles, heart and urogenital abnormalities. ASPP2 deficiency also causes neural tube defects, hopping gait, and male-specific motion hyperactivity in mice. We further identify candidate pathogenic TP53BP2 duplications, implicating TP53BP2 dosage sensitivity in the ganglionic eminences of the developing brain, manifested by structural abnormalities in the striatum and lateral ventricles of both deletion and duplication patients. ASPP2 controls neuroepithelial cell polarity via Par3 and genetic disruption of aPKC-Par3 interaction by rare missense variants was implicated in human neural tube defects. An integrative analysis of cancer genomic data revealed that PPP1R13B, encoding ASPP1, bears many hallmarks of a tumour suppressor gene, despite being mutated at a low absolute frequency. A subset of missense somatic mutations in ASPP genes genetically interact with TP53 mutations, disrupting an autoinhibitory mechanism to modulate p53-dependent transcription. In summary, this work identified novel candidate pathogenic variants in developmental disorders and cancer, and explored the mechanisms underlying their respective genotype-phenotype links.

No description available.

Abstract The prevalence of the isolated ultrasonographic finding of polycystic ovaries (PCO) in the Finnish population and among women with a history of gestational diabetes (GDM) and changes in the present carbohydrate metabolism were investigated in the present study. One aim of this study was to investigate the prevalence of the recently discovered variant type LH (v-LH) in PCOS and to compare patient cohorts from Finland, the Netherlands, the United Kingdom and the United States of America. In addition, this study attempted to evaluate the nature of the ovarian streoidogenic response of women with PCOS to exogenously administered human chorionic gonadotrophin (hCG), human menotrophin (hMG) and follicle stimulating hormone (FSH). The effect of metformin on ovarian steroidogenesis was also studied. The prevalence of PCO was significantly higher in younger (≤ 35 years, 21.6%) than among older women (in ≥ 36 years, 7.8%). The overall prevalence of PCO in Finnish women was 14.2%. Women with previous GDM revealed a high prevalence of PCO (39.4%). The carrier frequency of the v-LHb allele in the entire study population was 18.5%. The frequency of the v-LH carrier was significantly lower in obese PCOS subjects in the Netherlands (2.0%) and Finland (4.5%). Women with previous GDM had impaired insulin sensitivity and β-cell function. They also had higher adrenal androgen secretion than the control women. Women with PCO and previous GDM had marked hyperinsulinemia which was not explained by obesity. Obese PCOS women achieved peak peripheral serum T concentrations at 48 hours after a hCG injection, preceded by peak levels of 17-OHP and E2 at 24 hours. In contrast, all steroids measured in the control women reached their maximum serum concentrations at 96 hours. HMG stimulated the production of ovarian androgens more efficiently than a urinary FSH after pituitary suppression with a gonadotrophin releasing hormone agonist (GnRHa). In conclusion, the prevalence of PCO is common in healthy Finnish women and even more common in women with a history of GDM. The ultrasonographic appearance of PCO may be a predictive factor with regards abnormal glucose tolerance during and after pregnancy and, these women should therefore be advised as to possible consequences. The high overall frequency of the v-LH allele in women in general and its low frequency in obese PCOS patients suggests that v-LH plays a role in reproductive functions and may counteract the pathogenesis of PCOS in obese individuals. The differences observed in steroid responses to hCG between normal and PCOS women might be explained by higher theca cell activity or mass in polycystic ovaries. Women with PCOS did not show a distinctly exaggerated steroidogenic response to hMG or FSH administration compared with control women. FSH administration also resulted in increased A and T production.

documentation. I decided to help solve this problém for one Czech company in the implementation of a specific project. Elements, that could affect the success of the project, are many. However, by using different models it is possible to try minimize some impacts of known risks. In manufacturing project, which especially focuses on custom projects, there is an essential part of the decision whether to accept not to accept the project. This company primarily endeavor to maximize profits, the project must be interesting. In the first part of this thesis I examine this problem. In the second part I do the project analysis, which was selected on the basis of multi-criteria evaluation of alternatives. Finally, this whole thesis is implemented into the reality and the company works with it.

My thesis is about choice of internet connection. In my paper I focus on application methods of multicriterial evaluation of alternatives (VHV) on different types of internet connection. In my paper I want to compare different types of VHV and I want to say if they are convenient or not to use them in choice of internet connection. In this paper I compare different tariffs of internet connection and different types of internet connections between each other. For comparison I chose ADSL connection, connection trough cable TV and wireless connection. In comparison I used next methods: lexicographical method, ORESTE, WSA, TOPSIS and ELECTRE III. For internet connection is the best to use connection trough cable TV, second is ADSL connection and the worst is wireless connection. Lexicographical method is not very good for choice of internet connection. It is usable only in special cases. Other methods are acceptable for choice of internet connection.

Diplomová práce se zabývá vybudováním nového baletního sálu Národního divadla. První část této práce se zabývá hodnocením jednotlivých variant na vybudování báletního sálu a výběrem nelepší varianty. Druhá část práce se věnuje řízení projektu rekonstrukce vlatních prostor na nový baletní sál za pomocí MS Project.

The purpose of this research was to study the hybridization of molecular beacons under different conditions and designs. Data collected suggest that the inconsistency found in the emission intensity of several of these probes may be caused by 3 important factors: length of the probe, nucleotide sequence and, the formation of an alternative complex structure such as a dimer. Of all three factors, dimer formation is the most troublesome, since it reduces the emission of the reporter molecules. A new probe design was used to reduce dimer formation. The emission signal of the improved probe was several folds stronger than those probes with the early design. In this research, dimer formation is detected, furthermore a new probe with a different design was tested. If dimer formation can be reduced molecular beacons can be integrated into more complex hybridization systems providing an important tool in research and diagnosis of genetic disorders.

LSD1 is the first described histone demethylase which demethylates H3K4me1/2 (Shi et el., 2004), thus, causing transcriptional repression. Alternatively, LSD1 was demonstrated to have H3K9me1/2 demethylase activity when bound by androgen receptor, hence, causing transcriptional activation (Schule et al., 2005). LSD1 is commonly recruited by the so called CoREST core complex including: RCOR1, HDAC1 and HDAC2 among others and therefore is coupled with histone deacetylation and transcriptional repression (Foster et al., 2010). It is an important regulator of pluripotency in early development and it occupies, along with pluripotency factors NANOG and OCT4, the promoters of major lineage determining genes that are poised for activation in the pluripotent state, (Adamo et al., 2011). There are four described isoforms for LSD1: LSD1, LSD1-E2a, LSD1-8a and LSD1-E2a/E8a (Zibetti et al., 2010). While the Cterminus of LSD1 is extensively studied and the function of the isoforms LSD1-E8a and LSD1-E8aE2a is described, there is scarce knowledge on LSD1 N-terminus unstructured region and the SWIRM domain. In this project I examined the role of the differently spliced exon 2a on the function of the SWIRM domain through generation of eight constructs coding for the N-terminal portion of LSD1 SV1 and SV2 fused with a C- or N-terminus FLAG tag. I then performed an immunoprecipitation experiment followed by mass spectrometry and proteomics analysis that led to the identification of previously unknown binding partners to the LSD1 SWIRM domain: NONO and IGF2B3.