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Conditional linkage methods--searching for modifier genes in a large Amish pedigree with known Von Willebrand disease major gene modificationAbbott, Diana Lee 01 May 2009 (has links)
Von Willebrand Disease (VWD) is the most common bleeding disorder. In addition to known major genes, genetic modifiers, such as ABO blood group, affect quantitative outcome measures for VWD. The data consist of an 854-member Amish pedigree with established linkage of VWD to a locus within the Von Willebrand Factor (VWF) gene on chromosome 12. The DNA sequence of the causative mutation is known. Phenotypic information and genotypic data consisting of VWF mutation status and a genome screen of markers are available for 385 pedigree members. Genetic modifiers of the VWF mutation are investigated using known and new conditional linkage methods that search for modifier genes of a major gene with known mutation.
The MCMC-based program LOKI was used to conduct multipoint linkage analysis of VWD outcome measures while controlling for the VWF mutation. Adjustment for the mutation did not eliminate the linkage signal on chromosome 12 in the same location as the VWF mutation. Evidence for QTLs was also found on six other chromosomes.
Smod, a score statistic that detects evidence of a genetic modifier conditional on linkage to a major gene, was developed for sib pair data. To limit the modifier gene main effect, Smod was developed so that variance due to the modifier locus is bounded above by the variance of the interaction between major gene and modifier gene. The performance of Smod was compared to other published score statistics. Power to detect linkage to the modifier locus depended on major gene and modifier gene risk allele frequencies, relative contribution of the major gene main effect to the interaction effect, and the upper bound on the modifier gene main effect.
The Amish pedigree was broken up into sib pair data and analyzed using Smod and other score statistics. Using these statistics, the strongest evidence for QTLs for VWD was also found on chromosome 12 in the region of the VWF mutation. Combined with the LOKI results, further analysis will help determine if intragenic modification is occurring or if linkage disequilibrium between the mutation and analyzed markers is driving results.
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Advance water abatement in oil and gas reservoirSidiq, Hiwa January 2007 (has links)
The control of excessive water production in oil and gas producing wells is of increasing importance to the field operator, primarily when trying to maintain the survivability of a mature field from shut in. During the last two decades many chemicals have been studied and applied under the name of relative permeability modifier (RPM) to combat this problem. These chemicals were mostly bullheaded individually into the affected zones, consequently their application resulted in low to medium success, particularly in treating reservoirs suffering from matrix flow. It has been found that the disproportionate permeability reduction depends on the amount of polymer dispersed or absorbed by the porous rock. If single polymers are employed to treat excessive water production in a matrix reservoir they cannot penetrate deep into the formation rock because the polymer will start to build as a layer on the surface of the rock grains. As a result the placement of polymer into the formation will no be piston like and the dispersion over the rock pores will be uneven. To improve water shutoff technology a method of injecting chemicals sequentially is recommended provided that the chemical’s viscosity is increasing successively with the chemicals injected. / Experimentally confirmed, injecting chemicals sequentially provides better results for conformance control. The value of post treatment water mobility is conspicuously lowered by the method of applying injecting chemicals sequentially in comparison with the single chemical injection method. For instance, the residual resistance factor to water (Frrw) at the first cycle of brine flushing for this method is approximately five times higher than the Frrw obtained by injecting only one single chemical. Furthermore, for the second cycle of brine flushing Frrw is still higher by a ratio of about 2.5. In addition to this improvement residual resistance factor to oil Frro for this method is less than two which has been considered as the upper limit for conformance control in matrix reservoir. Accordingly injecting chemical sequentially can be applied for enhancing relative permeability modifier performance in matrix reservoir.
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Impact Modified Nylon 66-organoclay NanocompositesMert, Miray 01 January 2007 (has links) (PDF)
PA 66 nanocomposites and PA 66 blends were prepared using Cloisite 15A, Cloisite 25A and Cloisite 30B as organoclays and Lotader 2210 (E-BA-MAH), Lotader AX8840 (E-GMA) and Lotader AX8900 (E-MA-GMA) as impact modifiers. The effects of the composition, types of the components and the addition order of the nanocomposites on the morphology, mechanical, flow and thermal properties were investigated.
Melt compounding step was carried out twice in a co-rotating twin-screw extruder. This was called as All-S mixing sequence when all the components were melt mixed, simultaneously. The concentration of the elastomer was determined as 5 wt% and the organoclay as 2 wt% to minimize agglomeration of the organoclay and decrease in the mechanical properties. The components which exhibited the best mechanical results and organoclay delamination in All-S mixing sequences were compounded by using different addition orders.
Substantial increases were not observed in the tensile, impact, flexural and hardness test results of the nanocomposites compared to the polymer matrix that was twice extruded. Addition order of the components affected the properties of the nanocomposites and dispersion of the elastomeric domains and the organoclay. The best mechanical test results were obtained for All-S mixing sequence of (PA 66-15A-2210).
The degree of organoclay dispersion is better in Cloisite 15A and Cloisite 25A containing nanocomposites than the ones which have Cloisite 30B. Low melt flow index values aided dispersion of the organoclay whereas the slight changes in the crystallinity did not significantly contribute to the changes in the mechanical properties of the nanocomposites or the blends.
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Impact Modified Polystyrene Based NanocompositesYeniova, Canan Esma 01 January 2009 (has links) (PDF)
Polystyrene, PS, is a preferable polymer in industry, but, its brittle characteristic restricts its utilization. The aim of this study is to improve the impact strength of PS by the help of elastomeric materials SEBS-g-MA and E-BA-GMA. In order to prevent the reduction in the tensile strength of the materials, three different types of organic montmorillonites, MMT, (Cloisite® / 30B, 25A and 15A) were used as fillers. Nanocomposite preparation was performed in a co-rotating twin screw extruder.
Initially elastomer and organoclay contents were kept at 5wt% and 1-2wt% respectively. Well dispersed silicate layers were obtained for the nanocomposite containing SEBS-g-MA and Cloisite® / 25A owing to the high viscosity of SEBS-g-MA and the solubility of polystyrene end block of SEBS with PS matrix. Owing to higher hydrophobicity of Cloisite® / 15A a better dispersion was expected compared to Cloisite® / 25A, but, it was concluded that two long aliphatic tails of Cloisite® / 15A limited the access of polymer chains to the clay surface. The desired impact strength values could not be achieved by using 5wt% elastomeric materials / therefore, it was decided to increase the SEBS-g-MA content up to 15, 20, 30 and 40wt%.
With increasing elastomer content, increasing average elastomer domain size was obtained. Also, it was observed that with the addition of organoclay, the elastomeric domain size increases since the clay particles reside in the elastomer phase and at the interphase between elastomer and PS. The mechanical test results showed that the nanocomposites containing 15 and 20wt% SEBS-g-MA have the optimum average domain size that results in better impact strength values without deteriorating tensile properties.
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The morphology of polymer modified asphalt and its relationship to rheology and durabilityKraus, Zachary Rothman 10 October 2008 (has links)
Polymers are added to asphalt binders primarily to stiffen the binder at higher
temperatures and thus to protect the pavement against rutting at summertime
temperatures early in the pavement's life. Also, it has been noted that polymers typically
increase the ductility of a binder and that some polymer-asphalt combinations are
especially effective. Furthermore, it is hypothesized that enhancing a binder's ductility,
and maintaining this enhancement with binder oxidative aging, contributes to enhanced
binder durability in pavements. However, polymer-asphalt interactions and how they
might contribute to improved binder performance is not well understood. The goal of
this work was to probe the relationship of polymer morphology on asphalt binder
rheology and mixture durability.
Experiments were conducted on asphalt mixtures and binders, and as a function
of oxidative aging. PFC mixtures, which are an open mixture designed to allow
enhanced water drainage, were of specific interest. These mixtures were tested for
Cantabro Loss, an indicator of a mixture's likelihood of failure by raveling. Asphalt
binders were tested using dynamic shear rheometry (DSR), which provided the DSR
function, (G' /η'/G'), a measure of binder stiffness that includes both the elastic modulus
and the flow viscosity), ductility (used to measure the elongation a binder could
withstand before failure), gel permeation chromatography (GPC), used to estimate the
relative amount of polymer) and fluorescence microscopy (used to image the polymer
morphology in the asphalt binder). From these data, relationships were assessed between binder morphology and
binder rheology and between binder rheology and mixture durability, all as a function of
binder oxidative aging. Polymer morphology related to ductility enhancement. Polymer
morphology related to a change in the DSR function, relative to the amount of polymer,
as measured by the polymer GPC peak height. Cantabro loss correlated to the DSR
function (R2=0.963). The overall conclusion is that polymer morphology, as indicated by
fluorescence microscopy, relates to both the rheological properties of the binder and the
Cantabro loss of the mixture. These relationships should yield a better understanding of
polymer modification, increased mixture durability (decreased raveling) and improved
rheological properties (DSR function and ductility).
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Methods for comprehensive transcriptome analysis using next-generation sequencing and application in hypertrophic cardiomyopathyChristodoulou, Danos C. 08 October 2013 (has links)
Characterization of the RNA transcriptome by next-generation sequencing can produce an unprecedented yield of information that provides novel biologic insights. I describe four approaches for sequencing different aspects of the transcriptome and provide computational tools to analyze the resulting data. Methods that query the dynamic range of gene expression, low expressing transcripts, micro RNA levels, and start-site usage of transcripts are described.
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Biochemical characterization of the activity and specificity of ULP1 family membersChosed, Renee Joanna. January 2006 (has links)
Thesis (Ph.D.) -- University of Texas Southwestern Medical Center at Dallas, 2006. / Partial embargo. Vita. Bibliography: 128-131.
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Ractopamina em dietas para fêmeas suínas /Watanabe, Pedro Henrique. January 2009 (has links)
Orientador: Maria Cristina Thomaz / Banca: Fábio Enrique Lemos Budiño / Banca: Jacinta Diva Ferrugem Gomes / Banca: Hirasilva Borba Alves de Souza / Banca: Jorge de Lucas Júnior / Resumo: Objetivou-se avaliar os efeitos de concentrações crescentes de ractopamina em dietas para fêmeas suínas, abatidas com 110 kg de peso, quanto ao desempenho, características de carcaça, rendimento de cortes comerciais, composição e cortes cárneos do pernil, qualidades física, química, sensorial e perfil de ácidos graxos da carne, potencial para impacto ambiental e avaliação econômica. Foram utilizadas 468 fêmeas suínas, distribuídas entre quatro dietas: DC - dieta controle, composta principalmente por milho e farelo de soja; DC5 - dieta controle contendo 5 mg de ractopamina/kg; DC10 - dieta controle contendo 10 mg de ractopamina/kg e DC15 - dieta controle contendo 15 mg de ractopamina/kg. O peso inicial foi de 84,77±7,20 kg e final de 110,59±7,70 kg. O período experimental foi de 28 dias, quando então os animais foram destinados ao abate. Utilizou-se o delineamento em blocos ao acaso, para controlar diferenças de peso entre os animais. Encontrou-se reduções lineares para o consumo diário de ração e conversão alimentar, e aumentos lineares para área de olho de lombo, pesos de cortes inteiros do pernil e paleta, assim como para os pesos do coxão mole (Semitendinosus) e da alcatra (Gluteus medius), havendo efeito inverso para a quantidade de gordura no pernil, conforme o aumento das concentrações de ractopamina nas dietas. Não foi observado efeito sobre a qualidade e o perfil de ácidos graxos da carne. Houve diminuição da produção de fezes+urina por animal nas duas primeiras semanas de fornecimento, e alteração na composição das fezes. Notou-se aumentos nos custos da alimentação, e redução linear na receita líquida parcial sem bonificação. Para a receita líquida parcial com bonificação, observou-se efeito quadrático, sendo a concentração estimada de 4,05 mg de ractopamina/kg de dieta, a que determinou a melhor receita ... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The aim of this study was to evaluate the effects of increasing ractopamine concentration in diets for gilts, slaughtered at 110 kg of body weight, on performance, carcass characteristics, whosale cuts, composition and retail cuts of ham, physical, chemical and sensorial quality and fat acids profile of meat, potential environmental impact and economical evaluation of using this additive. It was used 468 gilts, allotted into four diets: DC - control diet, based on corn and soybean meal; DC5 - control diet containing 5 mg of ractopamine/kg; DC10 - control diet containing 10 mg of ractopamine/kg; DC15 - control diet containing 15 mg of ractopamine/kg. The initial weight of animals was 84.77±7.20 kg and the final 110.59±7.70 kg. The assay was carried out by 28 days and the animals were conducted to slaughter. It was used a randomized block design, to control the differences of body weight. Linear reductions were observed for daily feed intake and feed:gain ratio, and linear increases in loin eye area, wholesale cuts of ham and shoulder and retail cuts of Semimembranosus and Gluteus medius and an inverse effect for fat of ham, by increasing the ractopamine concentration in diets. There was no effect on meat quality and fat acids profile of meat. A reduction on feces+urine production by animal was observed in the two weeks of ractopamine administration and a change on feces composition was noted. An increasing trend on feeding cost and a linear reduction in the net income without bonification was noted. For net income with bonification, there was a quadratic trend and better results were obtained with the estimated concentration of 4.05 mg of ractopamine/kg of diet. These results indicate that ractopamine inclusion in diets for gilts slaughtered at 110 kg of body weight is justified with bonification for lean carcass, and in this scenario, it was recomended to use 4 mg of ractopamine/kg of diet / Doutor
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Efeito de modificadores poliméricos e argila organofílica nas propriedades do biopolímero poli (ácido lático) – PLA.CUNHA, Bartira Brandão da. 06 July 2018 (has links)
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Previous issue date: 2015-01-29 / Capes / A crescente busca por materiais alternativos que tragam menos dano ao meio ambiente resultou no desenvolvimento dos polímeros biodegradáveis. Estes materiais, do ponto de vista do processamento de obtenção, apresentam redução no consumo energético que aliada à ausência de inércia na sua degradação implicam na redução do acúmulo de lixo plástico no meio ambiente. Entretanto, alguns desses polímeros, como o poli (ácido lático) - PLA, por exemplo, apresentam algumas limitações quanto a sua aplicação, por ser um polímero de alta fragilidade e rigidez. A fim de ampliar o uso comercial do PLA, algumas pesquisas estão sendo desenvolvidas com o intuito de melhorar essas propriedades. Com base nisto, o atual trabalho de doutorado teve por objetivo estudar o efeito de modificadores poliméricos e argila organofílica nas propriedades do PLA a fim de se obter maior conhecimento sobre esse novo tipo de material. Para tanto o trabalho ocorreu em duas etapas: na primeira foram usados três modificadores poliméricos diferentes, cada um foi usado individualmente com o PLA, na proporção 90/10 (PLA/Modificador); na segunda, para cada sistema PLA/Modificador, foi acrescentado o teor de 3 pcr (partes por cem de resina) de argila organofílica. Os modificadores utilizados foram o Biostrength 150, o Paraloid e o EGMA, e a argila foi a Brasgel bentonítica. As misturas foram realizadas por meio de fusão. Para avaliar o efeito da modificação no PLA as amostras foram caracterizadas por meio das técnicas de Difração de Raios X (DRX), Espectroscopia na Região do Infravermelho por Transformada de Fourier (FTIR), Ensaios Mecânicos de Tração e Impacto, Microscopia Eletrônica de Varredura (MEV) Análises Térmicas por Calorimetria Exploratória Diferencial (DSC), Termogravimetria (TG) e DinâmicoMecânica (DMTA), Reologia e análise por temperatura de Distorção Térmica (HDT). Os resultados apontaram que as propriedades mecânicas de resistência ao impacto melhoraram significativamente, dependendo do modificador em uso, e também quando houve a combinação com a argila organofílica. No geral as propriedades mecânicas indicam que houve a tenacificação no PLA sem perda expressiva do módulo de elasticidade. As análises morfológicas apontaram uma boa dispersão do material. E as propriedades térmicas não sofreram grandes alterações. Os dados obtidos no ensaio reológico sugerem a formação de uma rede percolada na presença da argila. Concluindo-se por tanto que os modificadores poliméricos atuaram como dissipadores de energia e uso da argila inibiu a coalescência dos modificadores em meio a matriz polimérica, atuando de fato como uma barreira. / The increasing search for alternative materials that bring less damage to the environment resulted in the development of biodegradable polymers. These materials, from the viewpoint of obtaining processing, show a reduction in the energy consumption and the lack of inertia in its degradation imply the reduction of plastic waste accumulation in the environment. However, some of these polymers such as poly (lactic acid) - PLA, for example, have some limitations on their application, being a polymer of high rigidity and brittleness. In order to expand the commercial use of PLA, some research is being done with the aim of improving these properties. On this basis, the current doctoral work aimed to study the effect of polymeric modifiers and organoclay in PLA properties in order to obtain greater insight into this new type of material. For this work occurred in two stages: the first were used three different polymeric modifiers, each was used individually with the PLA in proportion 90/10 (PLA / Modifier); the second, for each PLA / modifier system was added 3 phr of the content (parts per hundred resin) of organophilic clay. The modifiers used were Biostrength 150, the Paraloid and E-GMA, and bentonite clay was the Brasgel. The mixtures were made by way of merger. To evaluate the effect of change in PLA samples were characterized by the techniques of X-ray Diffraction (XRD), Infrared Spectroscopy in the Region Fourier Transform (FTIR), Traction Mechanical Testing and Impact, Scanning Electron Microscopy (SEM) Thermal Analysis by Differential Scanning Calorimetry (DSC), thermogravimetry (TG) and Dynamic-Mechanical (DMTA), Rheology and analysis Temperature Heat Distortion (HDT). The results showed that the mechanical properties of impact resistance improved significantly with the use of polymeric modifiers and also when it was the combination with the organoclay. Overall mechanical properties indicate that there was no significant toughening the PLA loss modulus. Morphological analysis showed a good dispersion of the material. And the thermal properties did not change much. Rheological data obtained in testing suggest the formation of a percolating network in the presence of the clay. In conclusion therefore is that polymeric modifiers acted as energy sinks and use of the clay modifiers inhibit coalescence of the polymer matrix in the middle, in fact acting as a barrier.
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Propriedades semânticas e pragmáticas de modificadores do núcleo do sintagma nominal / Semantic and pragmatic properties of modifiers of the noun phrase headNhoato, Helker 02 July 2018 (has links)
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Previous issue date: 2018-07-02 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / O objetivo do trabalho é analisar funcionalmente os modificadores adjetivais do SN com base na motivação semântica do referente nuclear: se entidades de primeira ordem ou Indivíduos ou se entidades de segunda ordem ou Estados de Coisas (LYONS, 1977; HENGEVELD, 2008), priorizando as propriedades pragmáticas e semânticas dos adjetivos na variedade do português brasileiro falado no noroeste do Estado de São Paulo. A análise, de natureza funcionalista, vincula-se ao arcabouço teórico proposto pela Teoria da Gramática Funcional (DIK, 1997a) e pela Gramática Discursivo-Funcional (HENGEVELD; MACKENZIE, 2008) que proveem uma classificação semântica dos constituintes do sintagma nominal com base nas suas propriedades de referência a entidades do mundo e na atribuição de propriedade de modificação a essas entidades. Para análise da relação que os modificadores estabelecem com o núcleo dos sintagmas nominais, este trabalho volta-se para a classificação proposta por Negrão et al. (2014), que separam os adjetivos em argumentais e predicadores de núcleo, ou seja, itens lexicais que assumem uma posição aberta pelo substantivo deverbal e os que abrem posições temáticas que são, por seu lado, saturadas por um substantivo-núcleo. Para análise dos aspectos semânticos dos modificadores utilizam-se as classificações propostas por Castilho (2010), Castilho e Moraes de Castilho (1993), Cinque (2010) e Neves (2010). A amostra examinada é extraída do córpus IBORUNA coletado pelo Projeto ALIP, que foi concebido no interior do Grupo de Pesquisa em Gramática Funcional (GPGF) da UNESP de São José do Rio Preto. Os dados mostram, em primeiro lugar, que, de certo modo, independentemente do tipo de entidade envolvido no núcleo, de primeira e de segunda ordem, a posição pós-nuclear é a preferência grandemente majoritária dos adjetivos na codificação morfossintática. Além disso, a distribuição em anteposição e posposição tem uma regularidade motivada por traços semânticos específicos do modificador. A posição pré-nuclear, mesmo com baixa frequência, está vinculada a traços pragmáticos e semânticos específicos. Esses resultados demonstraram a atuação de motivações semânticas e, em menor parte, pragmáticas, condicionando o preenchimento de posições específicas dos modificadores no interior do sintagma nominal. / The aim of this study is to analyze, from a functional perspective, the adjectival modifiers of Noun Phrases, focusing on the semantic motivation of the Noun Phrase head: whether headed by first-order entities or Individuals or second-order entities or States-of-Affairs (LYONS, 1977; HENGEVELD, 2008). The purpose of this work is to give some priority to the pragmatic and semantic properties of adjectival modifiers in the variety of Brazilian Portuguese spoken in the northwest of São Paulo State. In order to do so, the analysis based on a functional perspective is aligned to the theoretical framework of The Theory of Functional Grammar (DIK, 1997a) and of the Functional Discourse Grammar (HENGEVELD; MACKENZIE, 2008). These authors provide a semantic classification of the constituents of the Noun Phrases which is based on their reference to entities (Individuals or States-of-Affairs) of a world and they analyze the process of modification of these entities by the attribution of a property. The analysis of the relationship between modifiers and the head of the Noun Phrases, initially, considers the classification proposed by Negrão et al. (2014), who distinguish adjectives in arguments and predicates. This distinction means that lexical items that, on the one hand, take a position open by the deverbal noun and, on the other hand, those who open a thematic positions taken by the nuclear referent of the Noun Phrase. Moreover, to analyze the semantic aspects of the modifiers, this study considers the classifications proposed by Castilho (2010), Castilho and Moraes de Castilho (1993), Cinque (2010) and Neves (2010). The sample examined was extracted from the IBORUNA Corpus, which was conceived by the Functional Grammar Research Group (Grupo de Pesquisa em Gramática Funcional), of São Paulo State University (UNESP) at São José do Rio Preto. The analysis shows, firstly, that: regardless of the type of entity involved in the head, whether first or second order, the modification after the head (postmodification) is where the adjective is largely preferred to occur in Morphosyntactic Encoding. In addition, the distribution through the place before the head (premodification) and postmodification in relation to the Noun Phrase head is provided with a high degree of regularity motivated by specific semantic features of the modifier. Secondly, the premodification, even if it is applied with low frequency in the data, is properly aligned to pragmatic and semantic specific features. Finally, these results show how semantic motivations and, less frequently, pragmatic ones, are involved in the fulfilling of specific positions of adjectives inside the Noun Phrase. / FAPESP: 2016/00661-5
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