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Kaewgun, Sujaree. "Synthesis and polymorphic control for visible light active titania nanoparticles." Connect to this title online, 2009. http://etd.lib.clemson.edu/documents/1252423855/.
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Turp, Sarah Ann. "Chemical control of the polymorphic phase boundaries in doped barium titanate." Thesis, University of St Andrews, 2013. http://hdl.handle.net/10023/3817.
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Barium titanate (BaTiO₃), a known ferroelectric material, is of great interest as a future lead-free piezoelectric if appropriately doped to tailor the electric properties for specific applications. This work focuses on the study and rationalisation of the dielectric properties of a series of A-site/B-site co-doped compositions: SrZrO3-BaTiO₃, CaZrO₃-BaTiO₃, LaScO₃-BaTiO₃ and GdScO₃-BaTiO₃. The effect of sintering conditions and microstructure on ceramics is shown to have a significant impact on the physical properties of these materials. Pellet inhomogeneity, air sensitivity in pre-calcined powders and the presence of parasitic grain boundary capacitances are all shown to have adverse effects on properties, including the magnitudes of relative permittivity and TC calculated from total capacitance data. These can be overcome by careful control of synthesis conditions. Dielectric spectroscopy measurements on the optimised materials show that increasing addition of SrZrO₃, CaZrO₃ or LaScO₃ causes the phase transitions between the various polymorphs of BaTiO₃ to coalesce. In each case TC is reduced whilst each of the other phase transitions is shifted to higher temperatures, until the coalescence temperature is reached. When doped with GdScO₃ TC is observed to fall, but so too are the rhombohedral/orthorhombic and orthorhombic/tetragonal transitions, resulting in a stabilisation of the tetragonal polymorphic phase. This is suggested to result from an antipolar displacement of small Gd₃₊ ions, resulting in 8-coordinate ion and stabilisation of the tetragonal polymorph. The addition of dopant species is shown to result in two different high temperature conduction regimes. Both mechanisms are observed within single compositions over different temperature ranges. It is suggested that this is due to a change between n- and p-type electronic conduction processes or mixed ionic/electronic processes. Finally, it is shown that trends observed in changes to TC cannot be accounted for by simple and widely used size-based arguments alone, but requires consideration of cation size variance and charge dilution effects in order to fully understand the impact on TC of dopant addition.
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McLure, Craig Anthony. "Duplication and polymorphism with particular reference to regulators of complement activation." University of Western Australia. Centre for Molecular Immunology and Instrumentation, 2005. http://theses.library.uwa.edu.au/adt-WU2005.0103.
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[Truncated abstract] For the convenience of the reader, detailed figures and tables have been enlarged and compiled in Appendix 2, at the end of this thesis. This thesis is presented as an approach to identify, annotate and detect genomic duplication and polymorphism within large genomic regions. To demonstrate this, I have used as a model, the genomic region known as the Regulators of Complement Activation (RCA). The RCA complex is located on the long arm of chromosome 1 at position 1q32 and is a reservoir of complement regulatory proteins. The genes of the RCA share many similarities implying that all have arisen through multiple complex duplication events. My analysis of this region in the following chapters demonstrates the complexity of this duplication and identifies the many functional units within the RCA. It was my aim at the beginning of these studies to demonstrate an approach that could define the Ancestral Haplotypes (AHs) of the RCA gene cluster. To do this, extensive genomic analysis was required and the ever-increasing availability of genomic sequence has made this thesis possible. Each of the chapters serves to address the following aims set out at the beginning of this thesis: 1. Further characterise the relationship between the genes (Complement Control proteins-CCPs) and domains of the Regulators of Complement Activation (RCA). 2. Identify and examine the duplicated elements within the RCA. - 6 - 3. Examine the effects of retroviruses and other insertions and deletions (indels) in generating the divergence of duplicated genes. 4. Investigate the applicability of the Genomic Matching Technique (GMT) to define AH within the region. 5. Examine association of AHs with CCP implicated diseases. 6. Determine the GMT applicability in non-human species
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Abu, Bakar Mohd R. "Process analytical technology based approaches for the monitoring and control of size and polymorphic form in pharmaceutical crystallisation processes." Thesis, Loughborough University, 2010. https://dspace.lboro.ac.uk/2134/6436.
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Pharmaceutical crystallisation operation is often critical because it determines product properties, such as the crystal size distribution (CSD) and polymorphic form, that can influence the subsequent downstream operations and the product therapeutic performance. Driven by the United States Food and Drug Administration s (FDA) Process Analytical Technology (PAT) initiative and the Quality-by-Design (QbD) concept, the development of control approaches, which can improve the manufacturing of products with desired properties, has become of significant interest. This thesis presents the development and application of PAT-based approaches for the monitoring and control of pharmaceutical crystallisation operations that will ensure consistent production of active pharmaceutical ingredients (APIs) with the desired size and polymorphic form. The approaches utilised Lasentec focused beam reflectance measurement (FBRM) and attenuated total reflectance ultraviolet (ATR-UV) spectroscopy as the in situ monitoring and control tools. Crystallisations of the APIs that posses multiple polymorphs are both critical and challenging. This was illustrated in this work by the crystallisations of sulfathiazole polymorphs using literature methods. The processes were monitored using FBRM and ATR-UV spectroscopy to define the design range of the process parameters. The defined range could be used as a recipe to reproduce the same quality of crystals. The obtained crystals were characterised using various techniques (optical microscopy, scanning electron microscopy (SEM), differential scanning calorimetry (DSC), thermogravimetry, hot-stage microscopy (HSM), Fourier Transform infrared spectroscopy and powder X-ray diffractometry) to assess the success of the crystallisation processes. The combined results of the techniques showed that all methods were able to produce the desired pure polymorphs. As a contribution to the technique of investigating polymorphism, a combined approach of DSC-HSM with image analysis, was introduced. Results show the capability of the approach to provide a unique insight into the polymorphic transformations and thermal behaviour exhibited by the model compound. The novel direct nucleation control (DNC) approach was introduced to control the CSD. The approach utilises information on nucleation, provided by FBRM, in a feedback control strategy that adapts the process variables, so that the desired CSD of product is achieved. It also provides in situ fines removal through the operating policy, rather than having additional equipment and external recycle loops. The approach does not require concentration measurement and has the advantage of being a model-free approach, requiring no information on nucleation or growth kinetics in order to design an operating curve; the system automatically and adaptively detects the boundary of the operating curve. Experimental results, using glycine in water-ethanol mixture as a model system, show the benefits of DNC to produce larger crystals with narrower CSD compared to uncontrolled operations. The capability of seeded cooling crystallization with temperature cycling approach to control crystal size uniformity and polymorphic purity was evaluated. Using sulfathiazole in n-propanol and in water as model systems, the method was found to accelerate the growth and enhance the size uniformity of the crystals, in comparison with runs using a linear temperature profile, by promoting Ostwald ripening. Although the approach is conceptually capable of controlling polymorphic purity of a system, the effect of solvent-mediated nucleation/growth can be more dominant, as shown by the results of the experiments. The insights into this behaviour of sulfathiazole crystals were captured very well by the FBRM. The study also demonstrated the successful use of a simple non-linear function as a calibration model to relate temperature and absorbance data, obtained using the ATR-UV spectroscopy, to solute concentration during the crystallisation process. The effect of temperature cycling, performed during seeded cooling crystallisation, on the surface features of sulfathiazole crystals was investigated using FBRM and ex situ optical microscopy, SEM and atomic force microscopy. It was observed during the initial stage of the process, the heating phases produced crystals with smooth surfaces, whilst the cooling phases promoted growth of features on the surfaces. These changes detected by the FBRM as an increase in the number of coarse counts during heating and a drop during cooling. Laser beam spreading caused by the surface roughness, and signal/chord splitting due to sharp edges are offered as an explanation for the FBRM results. This shows the capability of the FBRM to provide useful information about the changes on the surface of the crystalline products. The information can be used to avoid problems in the downstream operations, or in the final product property due to variations in flowability and friability, which are influenced by the surface property.
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Simone, Elena. "Application of process analytical technology (PAT) tools for the better understanding and control of the crystallization of polymorphic and impure systems." Thesis, Loughborough University, 2015. https://dspace.lboro.ac.uk/2134/20098.
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This work presents a comprehensive study on the application of PAT tools to study, monitor and control polymorphism during batch cooling crystallization processes. For the first time, the same techniques were used to control and adjust polymorphic purity of the solid phase but also to investigate the relation between chemical equilibrium in solution and polymorphic outcome of cooling crystallization. Crystallization is an important unit operation used as separation and purification technique. It is widely employed in the pharmaceutical, chemical, agrochemical, food and cosmetics industries but also in the electronic, metallurgic and material industries. More than 90% of the APIs on the market are produced by crystallization, therefore, monitoring and control this process is fundamental to ensure the quality of the final product. The implementation of process analytical technology (PAT) tools during the development stage of APIs has largely helped in better understanding and optimizing both batch and, more recently, continuous crystallization. Polymorphism is the capacity of a compound to crystallize in more than one different crystalline structure, which can have different properties such as density, melting point, bioavailability and solubility. The choice of solvent, pH, kinetic conditions and presence of impurities has very strong effect on the polymorphic outcome of a cooling crystallization in solution. Understanding this phenomenon as well as being able to monitor and control it during industrial crystallization is one the biggest challenges for pharmaceutical industries.
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Donahue, Michael J. "Polymorph characterization and control /." View online ; access limited to URI, 2007. http://0-digitalcommons.uri.edu.helin.uri.edu/dissertations/AAI3276988.
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Lai, Tsai-Ta Christopher. "Control of polymorphism in continuous crystallization." Thesis, Massachusetts Institute of Technology, 2016. http://hdl.handle.net/1721.1/104203.
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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Chemical Engineering, 2016.Cataloged from PDF version of thesis.
Includes bibliographical references.
Continuous manufacturing has gained significant interest in recent years as the ultra-lean mode of pharmaceutical production. Albeit the increasing number of studies on the process dynamics in continuous crystallization, in particular in yield improvement and impurity separation, the research community lacks the systematic understanding of the control of polymorphism in continuous crystallization. Variations in the polymorphism of the active pharmaceutical ingredient can undermine the bioavailability and the downstream processability of the drug substance. Thus, precise control of the drug polymorphism is pivotal for delivering quality drug products to the patients. In this thesis work, we aimed to develop a series of steps forward in understanding the polymorph dynamics in continuous crystallization, notably in mixed-suspension, mixed-product removal (MSMPR) crystallization. We first elucidated the major intrinsic and extrinsic factors which govern the process polymorphism in both monotropic and enantiotropic polymorphic compounds. Using the monotropic L-glutamic acid as the model compound, two temperature regimes each with distinctive kinetic and thermodynamic characteristics were identified. It is found that at high temperatures, the polymorph dynamics is mediated by the relative thermodynamics of the polymorphs. The most stable form is likely to be the dominant form at steady state. On the other hand, at low temperatures, the interplay of the crystal growth and nucleation kinetics is found to play an important role in determining the final polymorphism. Similar results were identified in the enantiotropic p-aminobenzoic acid system where three temperature regimes were identified. The additional regime is located near to the transition temperature where the chemical potential of the two polymorphs are identical. The steady state polymorphism is thereby determined by the kinetic energy barriers for the crystallization of the polymorphs. The study of polymorphism was also conducted in cooling-antisolvent crystallization and the effect of solvent composition on the polymorph dynamics was studied. In addition, the dynamic pathways connecting the startup states to the metastable steady states and the stable steady states were determined. The polymorphic transition between these steady states was observed and analyzed. The fundamental understanding of the kinetic competition and the governing dynamics in polymorphic crystallization forms the backbone for developing the polymorph control strategies in this thesis. Based on the polymorph dynamic studies, we designed MSMPR cascade systems to control the process polymorphism. In addition, systematic procedures are established to facilitate the design and optimization of continuous crystallization with the objectives to control polymorphism, optimize process yield and achieve the target crystal size distribution. The operational window is determined within which these control objectives are achieved. As there are increasing interests in transitioning pharmaceutical manufacturing from batch to continuous processing, the results in this thesis should develop a substantial position in the body of scientific literature.
by Tsai-Ta Christopher Lai.
Ph. D.
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Hahn, Patrick Daniel. "Social control of polymorphism in Zootermopsis." Diss., The University of Arizona, 1992. http://hdl.handle.net/10150/185916.
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The sex-specific effects of reproductives and of soldiers on the reproductivity (i.e., tendency to develop into replacement reproductives) of pseudergates of Zootermopsis nevadensis were studied. Reproductives inhibit reproductivity in pseudergates of their own sex only. Reproductives neither inhibit nor stimulate reproductivity in pseudergates of the opposite sex. Reproductives do not require the presence of a reproductive of the opposite sex to stimulate them to inhibit reproductivity in pseudergates. Soldiers had no effect on the reproductivity of pseudergates. The effects of group size and of the presence or absence of reproductives on the development of last-stage nymphs of Z. nevadensis were studied. The size of experimental groups had no effect on the rates of stationary molts or alate molts, suggesting that the correlation between colony size and the onset of alate production in nature may be spurious. The presence or absence of reproductives had no effect on the rate of stationary molts or alate molts, suggesting that in Z. nevadensis neither group size nor the presence of reproductives has any direct effect on alate determination. It is suggested that in Z. nevadensis a form of nutritional castration can delay the onset of alate development; that is to say, that the onset of alate development is determined by the ratio of nutrient-gathering castes to nutrient-receiving castes in the colony. I have found what I believe to be an extraordinary example of deception in Z. nevadensis and Zootermopsis angusticollis. This is the first reported example of caste mimicry in a social insect, and may explain why supernumerary replacement reproductives are common in Z. nevadensis and Z. angusticollis but not in Zootermopsis laticeps. The compositions of 41 field-collected colonies of Zootermopsis were given and the data were analyzed for trends. Most notably, supernumerary replacement reproductives were common in Z. nevadensis and in Z. angusticollis but have never been found in Z. laticeps, by us or by anybody else. These findings are in accordance with our hypothesis of "caste mimicry" in Z. nevadensis and Z. angusticollis.
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Yang, Xiaochuan Ph D. Massachusetts Institute of Technology. "Polymorphism control and the formation of organic molecular nanocrystals." Thesis, Massachusetts Institute of Technology, 2014. http://hdl.handle.net/1721.1/91067.
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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Chemical Engineering, 2014.Cataloged from PDF version of thesis.
Includes bibliographical references.
The formation of organic molecular nanocrystals is a topic of great interest in the pharmaceutical industry because of the potential increase in dissolution rate and solubility of organic crystals below 1 ptm and their potential use in drug products. Previous investigators have developed various methods to produce them; however, breakage, high supersaturation and high intensity mixing are often involved in those methods, producing amorphous solids and if crystalline solid is obtained making control of desired polymorphs difficult. The aim of this thesis is to: (1) Evaluate practical methods to produce organic molecular nano-crystals of the desired form; (2) determine the change in crystal solid properties with size; (3) develop a better fundamental understanding of nucleation kinetics during concomitant nucleation of polymorphs. The first approach tried used bi-functional Self-Assembled Monolayers (SAMs) substrates. Using mefenamic acid as the model compound, micro-sized and nano-sized crystals were obtained with controlled polymorphs and narrow size distributions. By tuning experimental conditions and surface chemistry, exclusive production of one polymorph was demonstrated as well. On the 1 ptm gold islands a single crystal was obtained on each of the islands with a crystal size of ~ 300 nm. The second approach is crystallization under nano-sized confinement. Using soft confinement (porous polymer membranes), we reported the use of a novel solution impregnation method to form nanocrystals in polymer matrices with various microstructures to systemically study the role of soft confinement and polymer chemistry on the nucleation process of nano-sized crystals. We obtained 100% crystalline materials of four compounds in all experiments and in most cases nanocrystals were the most stable form. The smallest nanocrystals produced were ~ 100 nm. In the rigid confinement (porous silica particles of ~ 40nm pores), we explored the polymorphic outcome of four different compounds using solid state NMR. We found that three out of the four compounds can crystallize in the pores although one showed two polymorphs concomitantly crystallized the same time and another one produces a mixture of two polymorphs and amorphous states. All these nanocrystals under soft and rigid confinement showed significant enhancement of dissolution profiles. These results help advance the fundamental understanding of nucleation under rigid confinement and may lead to potential applications in developing new formulations in the pharmaceutical industry. The third approach is the use of nano spray drying. We used glycine as the model compound and compare this approach with the first one we developed, and the results suggest that the nanocrystals produced by spraying exhibit wider size distribution and worse surface structures. These defects existing on crystal surface may improve mobility of molecules and cause "crystal-bridging" to form big crystals. To explore the change in crystal solid properties regarding size, we also measured the solubility vs size curves of two polymorphs of glycine. Both polymorphs showed 20%-30% increase of solubility when crystal size goes down to -300 nm. Although the curves did not cross in the range that we measured, the extended trends suggested that p-glycine solubility could be lower than [beta]-glycine when the crystal size is smaller than ~100 nm.
by Xiaochuan Yang.
Ph. D.
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Parmar, Manish M. "Polymorph selection with morphology control using solvents and additives." Thesis, Liverpool John Moores University, 2016. http://researchonline.ljmu.ac.uk/4399/.
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Sulphathiazole is a highly polymorphic model system exhibiting at least five polymorphic forms: I, II, III, IV, and V. Polymorph stability is known to be susceptible to solvent environment, and it is established that 1-propanol stabilizes the most metastable form I. This study examines the effect of a range of alcohols on polymorph selection and attempts to elucidate the mechanism. The role of the alcohol functional group in the polymorph selection process is thus investigated and evaluated. Crystals were characterized using optical microscopy, SEM, PXRD, DSC, IR, and single-crystal X-ray diffraction for their polymorphic identity. The role of solvent in the stabilization of polymorphs was investigated by visualizing and calculating energy requirements for the interaction of each solvent molecule with α- and β-dimers of sulphathiazole, using Cerius2 modeling software and GRID based systematic search simulation. These studies showed that solvent had a significant impact on polymorph selection. In common with 1-propanol, 1-butanol was found to stabilize form I by inhibiting the formation of the β-dimer, which is necessary for nucleation of and transformation to forms II-IV. Shorter chain alcohols and branched chain alcohols such as methanol, 2-propanol, and ethanol did not stabilize form I but stabilized forms II, III, and IV, respectively, showing that it is not only the alcohol functionality but also the steric effects of the alkyl chain that contributed to the effect. Sulphathiazole form I normally has a needlelike morphology. Form I with a modified rodlike morphology was produced by crystallization from 1-propanol with the addition of methanol in low concentration, showing that it is possible to control the morphology and selectively isolate polymorphs. Indomethacin is known to exhibit at least five polymorphs but only the stable γ Form and metastable α Form are reported to be reliably produced by standard methods. The metastable α Form has an undesirable fibrous needle-like morphology. The current study focused on producing crystals of α Indomethacin with a well-defined morphology using additives. Adipic acid, myristic acid, oleic acid and structurally related 3-indoleacetic acid were selected as additives and their impact on the morphology and polymorphism of indomethacin were investigated in this study. Additives did not change the needle-like morphology of α-indomethacin but less fibrous and less aggregated well defined needles were observed in presence of adipic acid, oleic acid and 3-indole-3-acetic acid.
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Briggs, Naomi Elizabeth Barbara. "Polymorph control of pharmaceuticals within a continuous oscillatory baffled crystalliser." Thesis, University of Strathclyde, 2015. http://oleg.lib.strath.ac.uk:80/R/?func=dbin-jump-full&object_id=26054.
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Continuous processing is a widely used application that provides a number of benefits to manufacturing including improved process control and high quality products. The continuous oscillatory baffled crystalliser (COBC) is a type of continuous platform that enables crystallisation and growth of pharmaceutical systems, moving crystallising solutions and suspensions through a series of baffled tubes. Application of oscillatory flow results in the formation of eddy currents enabling an efficient mixing and near-plug net flow experience of the bulk solution. The enhanced turbulence provides the possibility of linear scale up and uniformity in bulk solution environment (distributions of shear rates and temperature gradients are reduced) alongside the decoupling of mixing and net flow resulting in long residence times. Considering this, COBC systems offer promise to the enable effective operation and scaling of pharmaceutical crystallisation to industrial-sized processes. Residence time distributions (RTD) in a DN15 COBC have been studied for the first time as a function of flow and oscillatory conditions, illustrating operation with a near-plug profile. A novel moving fluid (MF) batch oscillatory baffled crystalliser has been developed as an improved model of the hydrodynamic conditions in a DN15 COBC and thus eliminates many of the assumptions made during the tradition approach for moving to continuous oscillatory flow. This batch system was combined with imaging technology to investigate nucleation and fouling. Experiments illustrated variations in nucleation kinetics for L-glutamic acid polymorphs when comparted to the tradition batch platforms, thus highlighting the importance to use representative systems for crystallisation scale-up. Polymorph control during continuous oscillatory crystallisation was investigated using two pharmaceutically relevant systems: L-Glutamic Acid and Carbamazepine. Due to excessive fouling in the COBC during spontaneous nucleation, continuous processes were designed and operated to decouple the two step crystallisation process. Through the use of seeding, fouling could be eliminated, and a focus on the control over particle growth could be made. In addition, a basic methodology from batch to continuous oscillatory baffled crystallisation is presented to achieve polymorphic control. This work has advanced the practical and scientific understanding towards a methodology for successful oscillatory flow operation in addition to the possibilities of a control approach, through implementation of process analytical technologies, thus facilitating the rapid development and understanding of COBC processes in future studies.
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Jones, Victor Arnold Shivas. "The genetic control of rhizoid development in the liverwort Marchantia polymorpha." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:fd764164-55da-4b71-8397-f5a9e0f6ac4c.
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The first land plants faced a harsh terrestrial environment when they emerged from the water over 470 million years ago, and one of the key adaptations that allowed them radiate across the land was the development of a rooting system. To investigate the genetic mechanism that controlled the differentiation of rooting cells in ancient land plants, I carried out a mutant screen to identify genes that regulate rhizoid development in the liverwort Marchantia polymorpha, a member of the earliest-diverging lineage of land plants. I used insertional mutagenesis to generate a population of 105,000 lines from which I selected 61 mutants with defects in rhizoid development, and identified 10 genes that are part of the network of genes that influence the differentiation and growth of rhizoids. Eight of these are late-acting genes that are required for the elongation of rhizoids by tip growth, while two are transcription factors that direct early events in the adoption of rhizoid fate. I identified the bHLH transcription factor MpROOT HAIR DEFECTIVE 6-LIKE1 (MpRSL1) as a key regulator of rhizoid differentiation, as gain-of-function mutations in MpRSL1 cause rhizoids to develop in ectopic locations. The homologues of MpRSL1 in the angiosperm Arabidopsis and the moss Physcomitrella control the differentiation of their root hairs and rhizoids, respectively, which suggests that a gene regulatory network that included RSL genes controlled the development of filamentous rooting cells in the last common ancestor of all land plants. I also identified MpWIP, which encodes a member of a plant-specific family of zinc finger proteins, as a putative regulator of the development of both rhizoids and the cells of the air pore complex, a second specialized epidermal cell type. WIP genes have not been implicated in the control of rooting cell development in other species, so this role in Marchantia may be either inherited from the earliest land plants or a derived character. This work demonstrates the suitability of M. polymorpha as a subject for large-scale mutageneses and screens for gene discovery. The genes I have found to be involved in rhizoid development indicate that the last common ancestor of all land plants already possessed a gene regulatory network that controlled the development of rooting cells, and that at least some of its components, such as RSL genes, have been conserved in its descendents since the divergence of the liverworts and other land plants.
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Newby, Adam Franklin. "Liverwort control in container-grown nursery crops." Auburn, Ala., 2006. http://repo.lib.auburn.edu/2006%20Summer/Theses/NEWBY_ADAM_48.pdf.
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Navarro, Alexandre Khae Wu. "Cristalização preferencial de polimorfo do ácido Lglutâmico : uma abordagem por controle ótimo." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/266749.
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Orientador: Flávio Vasconcelos da SilvaDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Engenharia Química
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Resumo: O controle de distribuições de cristais é de grande importância para a indústria química de alta tecnologia, encontrando especial aplicação na produção de fármacos e alimentos. Nestas indústrias, outra característica é igualmente importante: polimorfismo. Legislações específicas comumente requerem a presença de um determinado tipo de polimorfo. Como o controle para obtenção destas características é de relevância industrial e tipicamente de difícil realização, neste trabalho, foi estudado o controle da cristalização do ácido L-glutâmico por resfriamento visando obter um único polimorfo e maximizar o tamanho dos cristais ao final da batelada. Este tema foi abordado utilizando controle ótimo através de três estratégias diferentes: controle ótimo em malha aberta, controle ótimo em malha aberta com rastreamento de temperatura e concentração e controle ótimo em malha fechada. As otimizações foram realizadas no software Scilab através de um método quasi-newton em esquema sequencial, de forma que os momentos da distribuição de cristais eram simulados e a curva de resfriamento ajustadas com base na simulação. Para lidar com o efeito de dissolução total de um dos polimorfos, característica que não é capturados pelos momentos populacionais, foi utilizado um loop de integração baseado na interpretação física dos valores dos momentos populacionais. Ao final do trabalho, verificou-se que a estratégia de controle ótimo em malha fechada obteve melhores resultados
Abstract: Crystal size distribution control is of great importance to high-end chemical industry, especially in applications to the production of pharmaceuticals and foods. In these industries, another crystal characteristic is equally important: polymorphism. Strict regulations often require that only an specific type of polymorph may be present in a determined product. As controlling these factors is both of industrial relevance and typically difficult, in this work, the control of batch L-glutamic acid crystallization by cooling aiming to obtain one specific polymorph while maximizing crystal size at the end of the operation. This theme was approached by using optimal control and three different strategies: open-loop optimal control, open-loop optimal control with temperature and concentration tracking, and closed-loop optimal control. The optimizations were performed in Scilab through a quasi-newton method in a sequential process so that the moments of the crystal size distribution were simulated and the cooling curves adjusted based on the simulation and the objective. To deal with the total dissolution of one of the polymorphs, a feature not captured by the populational momentts, a special integration loop was used based on the physical interpretation of the moment values. Finalluy, at the end of the study, it was found that the closed-loop optimal control approach provided better results
Mestrado
Sistemas de Processos Quimicos e Informatica
Mestre em Engenharia Química
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Freitas, Fabiana Cristina de [UNESP]. "Caracterização e comparação de Cotesia flavipes (Hymenoptera: braconidae) em situação de criação massal utilizando microssatélites e morfologia." Universidade Estadual Paulista (UNESP), 2016. http://hdl.handle.net/11449/138304.
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O parasitoide larval Cotesia flavipes (Cameron) (Hymenoptera: Braconidae) é um importante agente de controle biológico da broca-do-colmo, Diatraea saccharalis (Fabricius) (Lepidoptera: Crambidae), na cultura da cana-de-açúcar. Este parasitoide é criado em biofábricas para liberação no campo; porém indicadores de parasitismo e capacidade de vôo sugerem que este parasitoide não está apresentando os mesmos níveis de controle que foram observados logo após a sua introdução. Insetos criados em laboratórios ou de campo são introduzidos na criação, porém sem estudos básicos ou critério. Insetos de oito biofabricas de 6 estados brasileiros (São Paulo, Minas Gerais, Paraná, Goiás, Maranhão e Alagoas) foram caracterizados e comparados com a utilização de microssatélites. Análise de quatro loci utilizando pelo menos 22 fêmeas de cada localidade foi realizada. A tíbia posterior direita de cada fêmea utilizada na extração de DNA também foi medida. Os resultados mostraram que o tamanho da tíbia dos insetos do Paraná foi significativamente maior do que o das demais regiões e, dessa forma, dando indicação de mais vigorosos. Com a análise molecular verificou-se que os quatro loci foram polimórficos. As frequências alélicas de três loci estavam de acordo com o Equilíbrio de Hardy-Weinberg para todas as populações de todas as regiões. Foi observada a presença de cinco alelos exclusivos em apenas dois loci. Os maiores valores de Ho e He foram encontrados para os indivíduos da biofábrica no estado de São Paulo (Ho= 0,6055 e He=0,4342). A porcentagem de variação entre e dentro das populações foi 24,65% e 75,34%, respectivamente. A estimativa de compartilhamento de genótipos entre os indivíduos de C. flavipes mostrou K = 2 como número de grupos genéticos mais provável que tenha originado a variação atual e alto compartilhamento de genótipos entre eles. Levando em consideração todos os loci analisados, a diferenciação genética foi moderada (Fst = 0,1656; IC=95%). Ainda é proposta uma mistura de materiais biológicos levando em consideração as distâncias genéticas e o grau de estruturação apresentado.
O parasitoide larval Cotesia flavipes (Cameron) (Hymenoptera: Braconidae) é um importante agente de controle biológico da broca-do-colmo, Diatraea saccharalis (Fabricius) (Lepidoptera: Crambidae), na cultura da cana-de-açúcar. Este parasitoide é criado em biofábricas para liberação no campo; porém indicadores de parasitismo e capacidade de vôo sugerem que este parasitoide não está apresentando os mesmos níveis de controle que foram observados logo após a sua introdução. Insetos criados em laboratórios ou de campo são introduzidos na criação, porém sem estudos básicos ou critério. Insetos de oito biofabricas de 6 estados brasileiros (São Paulo, Minas Gerais, Paraná, Goiás, Maranhão e Alagoas) foram caracterizados e comparados com a utilização de microssatélites. Análise de quatro loci utilizando pelo menos 22 fêmeas de cada localidade foi realizada. A tíbia posterior direita de cada fêmea utilizada na extração de DNA também foi medida. Os resultados mostraram que o tamanho da tíbia dos insetos do Paraná foi significativamente maior do que o das demais regiões e, dessa forma, dando indicação de mais vigorosos. Com a análise molecular verificou-se que os quatro loci foram polimórficos. As frequências alélicas de três loci estavam de acordo com o Equilíbrio de Hardy-Weinberg para todas as populações de todas as regiões. Foi observada a presença de cinco alelos exclusivos em apenas dois loci. Os maiores valores de Ho e He foram encontrados para os indivíduos da biofábrica no estado de São Paulo (Ho= 0,6055 e He=0,4342). A porcentagem de variação entre e dentro das populações foi 24,65% e 75,34%, respectivamente. A estimativa de compartilhamento de genótipos entre os indivíduos de C. flavipes mostrou K = 2 como número de grupos genéticos mais provável que tenha originado a variação atual e alto compartilhamento de genótipos entre eles. Levando em consideração todos os loci analisados, a diferenciação genética foi moderada (Fst = 0,1656; IC=95%). Ainda é proposta uma mistura de materiais biológicos levando em consideração as distâncias genéticas e o grau de estruturação apresentado.
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Salman, Esin Bayraktar Oğuz. "Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in Turkish alcohololic people and control group/." [s.l.]: [s.n.], 2007. http://library.iyte.edu.tr/tezlerengelli/master/biyoteknoloji/T000650.pdf.
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Champion, Clement Henry Martin. "The genetic control of microtubule-mediated tip-growth stability in the liverwort Marchantia polymorpha." Thesis, University of Oxford, 2017. http://ora.ox.ac.uk/objects/uuid:c693ef49-3733-4577-bf6a-86429248467b.
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Polar growth is an important mechanism for plant cell morphogenesis. Tip-growth represents an extreme mode of polar growth where cell expansion is stably restricted to a narrow domain of the cell periphery resulting in the formation of a tubular cell projection. The microtubule cytoskeleton controls the stable positioning of the growth region in tip-growing cells of flowering plants and mosses. I show that this holds true in the earliest diverging clade of land plants, the liverworts. In Marchantia polymorpha, pharmacological destabilization of the microtubule cytoskeleton leads to the formation of wavy or bifurcating rhizoids, a tip-growing cell type analogous to root hairs of flowering plants and to caulonema cells of mosses. Characterization of the organisation of the microtubule cytoskeleton in growing rhizoids of Marchantia polymorpha revealed longitudinally oriented microtubules that grow towards and converge into the apical dome. Because microtubule-associated proteins (MAPs) control the organisation of the microtubule cytoskeleton I generated the first de novo genome assembly of Marchantia polymorpha and compared the MAP repertoire of the liverwort model with that of existing model organisms of the green lineage. A mutant screen in Marchantia polymorpha identified the function of MpWAVE DAMPENED LIKE (MpWDL) and MpNIMA-RELATED KINASE (MpNEK) in microtubule-mediated tip-growth stability. MpWDL localizes preferentially to microtubules in the shank of growing rhizoids, where it promotes the longitudinal orientation of the microtubule cytoskeleton. These results are discussed in the context of the evolution of microtubule-mediated tip-growth stability and the tentative hypothesis that the underlying mechanism differs between flowering plants and bryophytes is proposed.
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Zhao, Xiaoyan. "Genetic and immunological control of human myasthenia gravis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-494-5/.
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Lobo, Daniela Sabbatini da Silva. "Características de personalidade de jogo patológico: análise comparativa de jogadores patológicos e seus irmãos." Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/5/5142/tde-02092005-150159/.
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O Jogo Patológico é um transtorno psiquiátrico em que fatores genéticos e de personalidade contribuem significativamente para seu desenvolvimento. Este estudo comparou características clínicas, de personalidade e polimorfismos de genes envolvidos na atividade dopaminérgica cerebral em pares discordantes de irmãos para o diagnóstico de Jogo Patológico. Na análise discriminante, as dimensões de personalidade extravagância, persistência, segunda natureza, apego e o escore total da Escala de Impulsividade de Barrat foram capazes de classificar corretamente 90,7% dos sujeitos, sugerindo-se a utilização deste modelo para a identificação de indivíduos vulneráveis em famílias com histórico de Jogo Patológico. O polimorfismo -800 T/C do gene DRD1 foi associado ao diagnóstico de Jogo PatológicoPathological Gambling is a psychiatric disorder in which personality characteristics and genetic factors significantly account for its development. This study compared clinical and personality features, and genes involved in dopaminergic transmission in discordant sib-pairs for the diagnosis of Pathological Gambling. Discriminant analysis revealed that the personality dimensions of extravagance, persistence, second nature, attachment and the total score on the Barrat Impulsiveness Scale were able to correctly classify 90,7% of the subjects, suggesting that this model could be useful in identifying vulnerable subjects in families with prior history of Pathological Gambling. The DRD1 gene polymorphism -800 T/C was associated to the diagnosis of Pathological Gambling
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Bidwell, Joseph R. "Control strategies for the zebra mussel, Dreissena polymorpha, and the Asian clam, Corbicula fluminea comparative stress responses and nontarget impact /." Diss., Connect to this title online, 1993. http://scholar.lib.vt.edu/theses/available/etd-10212005-122959/.
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Приступа, Людмила Никодимівна, Людмила Никодимовна Приступа, Liudmyla Nykodymivna Prystupa, Анна Миколаївна Бондаркова, Анна Николаевна Бондаркова, and Anna Mykolaivna Bondarkova. "Level of bronchial asthma control with regard to GLN27GLU polymorphism in the β2-adrenergic receptor gene." Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/64795.
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The aim of our research was to identify asthma control level with regard to Gln27Glu polymorphism in the ADRB2 gene. Materials and methods. We examined 195 with bronchial asthma patients and 95 apparently healthy individuals. Patients with BA were divided into 3 groups depending on the genotypes for Gln27Glu polymorphism in the ADRB2 gene. Asthma control was assessed by means of Asthma Control Questionnaire-5 (ACQ-5) and respiratory function evaluation. Gln27Glu (rs1042714) polymorphism in the ADRB2 gene was detected using polymerase chain reaction. Statistical analysis was performed using SPSS– 21 program.
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Tso, Ko-Chiang Tim. "Insulin-dependent diabetes mellitus and atherosclerosis : the effects of apolipoprotein e polymorphism, lipoprotein (A) polymorphism, and glycemic control on atherogenic factors in children with insulin-dependent diabetes mellitus /." The Ohio State University, 1997. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487948807587274.
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Mazal, Ctibor. "LabVIEW instrument control toolbox." Master's thesis, Vysoké učení technické v Brně. Fakulta elektrotechniky a komunikačních technologií, 2015. http://www.nusl.cz/ntk/nusl-221273.
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This diploma thesis is containing the description of the LabVIEW Instrument Control Toolbox project. Initial preparations like the development environment choosing process, as well as the instrument driver layer choice are present along with the project requirements. A signal approach to the instrument control is defined and described in detail. This thesis also contains the main project development in The National Instruments LabVIEW and at the end, a detailed description and user guidance for each developed and fully integrated toolbox module.
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Silva, Ana Paula Cappra. "Controle de qualidade e avaliação das propriedades tecnológicas das formas polimórficas de talidomida." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/60980.
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A talidomida foi amplamente prescrita entre 1950 e 1960, em quase 50 países, como hipnosedativo não-barbitúrico e antiemético para indisposição matinal durante a gravidez, sendo em seguida fortemente controlada em função da ocorrência de sérios problemas de teratogenicidade. Nos últimos anos, vários esforços foram realizados no sentido de buscar identificar e elucidar as propriedades antiinflamatórias, imunomodulatórias e antiangiogênicas da talidomida. Na mesma direção, investigações clínicas foram conduzidas em pacientes com diversas doenças, como mieloma múltiplo, carcinoma renal, câncer de próstata, Síndrome da rejeição paciente-enxerto, entre outras. A talidomida possui um centro quiral e dois anéis amida em sua estrutura e é sintetizada como racemato, constituída por dois enantiômeros ativos: (+)-(R)- e (+)-(S)-talidomida. A talidomida racêmica apresenta duas formas polimórficas, alfa ( ) e beta ( ). Assim, a variabilidade observada em relação ao polimorfismo representa um ponto crítico se considerarmos o potencial de alteração de propriedades biofarmacêuticas em decorrência da predominância de um ou outro polimorfo. No Brasil o medicamento talidomida é fabricado exclusivamente pela FUNED – Fundação Ezequiel Dias, laboratório público do Estado de Minas Gerais que integra o Sistema Oficial de produção de Medicamentos do País. Neste contexto, este trabalho tem como principal objetivo a avaliação de características físicas, físico-químicas e tecnológicas dos polimorfos da talidomida, com ênfase nos ensaios de cristalização, dissolução, degradação e compressão. Os resultados deste trabalho contribuíram para um melhor entendimento da relação entre características cristalográficas e propriedades farmacêuticas, agregando uma base científica capaz de avaliar as diferenças existentes destes polimorfos e garantir o controle de qualidade adequado do produto final produzido em um Laboratório Oficial. Estes estudos contribuíram para o cumprimento de exigências regulatórias.Thalidomide was widely prescribed between 1950 and 1960, in nearly 50 countries, as sedative and antiemetic for morning sickness during pregnancy. After the occurrence of serious problems of teratogenicity it was heavily controlled. Growing interest has been observed in recent years to identify and elucidate the anti-inflammatory, immunomodulatory and anti-angiogenic properties of thalidomide. In the same direction, clinical investigations have been conducted in patients with various diseases such as myeloma, renal carcinoma, and prostate cancer, among others. Thalidomide possesses a chiral center and two amide rings in its structure and is synthesized as racemate, consisting of two active enantiomers: (+)-(R)- and (+)-(S)-thalidomide. It is known that the racemic thalidomide has two polymorphic forms, alpha ( ) and beta ( ). Thus, the observed variability in relation to the polymorphism represents a critical point considering the potential of changes in biopharmaceutical properties due to the predominance of one of them. In Brazil thalidomide tablets are manufactured exclusively by FUNED – Fundação Ezequiel Dias, the public laboratory of the State of Minas Gerais, which integrates the Country's Official System of drug production. In this context, the objectives of this work are the assessment of physical characteristics, physicalchemical and technological properties of polymorphic forms of thalidomide, with emphasis on crystallization, dissolution, degradation and compression. The results of this work contributed to a better understanding of the relationship between characteristic crystallographic properties and pharmaceutical properties, aggregating a scientific basis to assess the differences of these polymorphs and ensure the appropriate quality control of the final product produced in an official laboratory. These studies contributed to compliance with regulatory requirements.
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Faria, Victor Genu. "Estudo do circuito regulatorio que controla a expressão do gene MOX (metanol oxidase) na levedura Hansenula Polymorpha." [s.n.], 2002. http://repositorio.unicamp.br/jspui/handle/REPOSIP/314285.
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Orientador : Gonçalo Amarante Guimarães PereiraDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia
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Resumo: A expressão de genes da classe II (codificadores de proteínas) em organismos eucariotos é regulada de uma maneira altamente complexa, de modo a assegurar que genes específicos sejam adequadamente "ligados" ou "desligados" em resposta a estímulos ambientais (por exemplo, disponibilidade de nutrientes ou temperatura) ou a estágios do desenvolvimento do organismo (por exemplo, diferenciação em metazoários). De maneira geral, apenas os genes cujos produtos são requeridos em uma determinada condição são expressos, permanecendo aqueles "supérfluos" silenciados. Essa é uma forma comum de economia de energia, pois evita o dispêndio com a transcrição de genes que não são necessários de imediato. Um modelo interessante de estudos sobre regulação gênica em eucariotos é derivado do metabolismo de metanol (metabolismo C1) de leveduras metilotróficas, como Hansenula polymorpha (sinônimo: Pichia angusta). A utilização de metanol como fonte única de carbono e energia depende basicamente dos produtos de quatro genes (MOX, CAT, DAS, FMD) , que são fortemente reprimidos na presença de glicose e intensamente ativados quando as células entram em contato com metanol. Nesse trabalho, foram estudados diferentes aspectos da regulação do metabolismo C1, em especial, da expressão do gene MOX, codificador da primeira enzima dessa via metabólica, Metanol Oxidase (MOXp). Será descrita a existência de dois Pontos de Iniciação da Transcrição alternativos controlando a expressão do gene MOX em diferentes condições metabólicas, e também a dependência da atividade mitocondrial para a ativação gênica. Possíveis relações evolutivas desse processo com o metabolismo C1 serão apontadas. A dinâmica de posicionamento de nucleossomos em situações de repressão e indução também foi estudada e importantes implicações para a regulação gênica foram detectadas. Em uma busca por fatores adicionais que controlam a expressão de MOX, foram clonados fragmentos de genes homólogos a SW/2/SNF2 e SW/3, que codificam subunidades do complexo remodelador de cromatina SWI/SNF, envolvido com a ativação de uma série de genes regulados por glicose em Saccharomyces cerevisiae. Em H. polymorpha, mutações swi2 e swi3 levaram a deficiências na utilização de metanol (e de outras fontes de carbono) e também a uma redução drástica do nível de expressão normal de MOX. Finalmente, foi detectada a restauração da habilidade de células de H.polymorpha crescerem em galactose, como decorrência das mutações swi2 e swi3 introduzidas
Abstract: The expression of protein-coding genes in eukaryotic organisms is regulated in a highly orchestrated and elaborated fashion to ensure that specific genes are turned on and off in response to different environmental stimuli (e.g. food availability or temperature) or to temporal and developmental requirements (e.g. differentiation in metazoans). Generally, only the genes whose products are required under a certain circumstance are expressed, while those "unneeded" are kept silent. This is an ordinary way of saving energy, since it avoids useless wasting with the expression of genes unessential in a given metabolic situation. An interesting model for studies on eukaryotic gene regulation is derived from the methanol metabolism (C1 metabolism) of methylotrophic yeasts, as Hansenula polymorpha (synonym: Pichia angusta). The utilization of methanol as a sole carbon and energy source depends mainly of the products of four genes (MOX, CA T, DAS, FMD), which are strongly repressed by glucose and fully activated when the cells are grown in methanol. In this work, different issues on the regulation of C1 metabolism in H. polymorpha were studied, specially on the transcriptional regulation of the MOX gene encoding the first enzyme of this particular metabolic pathway, Methanol Oxidase (MOXp). It will be described the existence of two alternative Transcription Starting Points controlling MOX expression under different physiological conditions and also the dependence on mitochondrial activity for gene activation. Possible evolutionary implications of this process with C1 metabolism will be considered. The dynamics of nucleosome positioning on the MOX promoter under repressing and derepressíng conditions was also studied and important implications on gene regulation were detected. In a search for additional factors controlling the MOX gene expression in H. polymorpha, gene fragments homologous to the Saccharomyces cerevisiae SW/2ISNF2 and SW/3 genes encoding subunits of the SWI/SNF chromatin-remodeling complex were cloned. In H. po/ymorpha,swi2 and swi3 mutations led to a deficiency on the utilization of methanol (as of other carbon sources) and also to a drastic reduction of the normal levels of MOX expression on cells growing on methanol. At last, the restoration of the ability of H. po/ymorpha cells to grow on galactose was detected, as a consequence of the swi2 and swi3 mutations introduced. Possible evolutionary considerations and also the repressive role played by the SWI/SNF complex on the galactose utilization pathway in normal cells will be discussed.
Mestrado
Bioquimica
Mestre em Biologia Funcional e Molecular
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Catarino, Bruno. "Evolution of bHLH transcription factors that control epidermal cell development in plants." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:88f764a3-dfe9-432f-a33a-3db3981c21d9.
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The colonization of the arid continental surface by plants was one of the milestones in Earth's history. Morphological innovations, such as the origin of complex 3D tissues, allowed the successful colonization and radiation of plants on land. The epidermis is the outermost plant tissue that constitutes the interface between the plant and the environment. Thus, the evolution of epidermal cells was crucial for the adaptation of plants on the terrestrial arid environment. I undertook a combined approach that aims to understand the evolutionary trends that drove land plant colonization and the genetic mechanisms that underlie the development of the epidermis. This approach includes: 1) analyses of plant transcription factors (TFs) families distribution and diversification, with a particular focus on the basic Helix-Loop-Helix (bHLH) TF family, and 2) functional characterization of a putatively conserved bHLH TF subfamily involved in epidermal cell development in land plants. Here, I showed that there was a stepwise increase in the number of transcription factor (TF) families and bHLH subfamilies that predated the colonization of the terrestrial surface by plants. The subsequent increase in TF number on land was through duplication within pre-existing TF families and subfamilies. Moreover, a similar trend occurred in metazoan bHLH TF, suggesting that the majority of innovation in plant and metazoan TF families occurred in the Precambrian before the Phanerozoic radiation of land plants and metazoans. Furthermore, I demonstrated that the function of IIIf bHLH TFs in controlling the development of the epidermal cell layer is conserved between liverworts and angiosperms. This suggests that IIIf bHLH TFs are ancient and conserved regulators of epidermal cell development since the early colonization of the land by plants. Moreover, these bHLH TFs were recruited during the evolution of land plants to control the development of seemingly unrelated morphological characters in specific lineages of extant land plants. The recruitment of ancient developmental regulators to control distinct and unrelated developmental processes in land plants might underlie the huge morphological and taxonomic radiation of plants on land.
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Venancio, Bárbara Rocha [UNESP]. "Chain of custody control of ipe timber (Handroanthus sp.) from the Amazon rainforest, using DNA fingerprinting." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/150808.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
A presente dissertação de mestrado é composta por uma seção introdutória, seguida de uma revisão da literatura a qual antecede os três capítulos subsequentes. O primeiro capítulo aborda um conjunto de revisões de conhecimentos científicos contemporâneos sobre os efeitos da exploração madeireira em florestas tropicais e as práticas madeireiras utilizadas no Brasil, quais têm se demonstrado insuficientes para garantir a sustentabilidade tanto na produção genética quanto na produção madeireira. O segundo capítulo é um “primer note” descrevendo a identificação de 402 loci putativos (polimorfismos de nucleotídeo único – SNPs, inserções / deleções - INDELs) para Ipe (Handroanthus sp.), destinado à estudos de genética de populações, filogeografia e DNA fingerprinting. O último capítulo discute a viabilidade de DNA fingerprinting para espécies do gênero Handroanthus. Esse traz a análise da diversidade genética, diferenciação genética de populações de Handroanthus sp., bem como entre os países de origem das amostras, análises de auto atribuição de genótipos e testes de atribuição de madeira ao local de origem.
The present master dissertation is composed by an introductory section, followed by a review of literature, which prefaces the three subsequent chapters. The first chapter of this dissertation is a review assembly contemporary scientific knowledge about the effects of the forest logging in tropical rainforests and the actual logging practices used in Brazil, which seems insufficient to ensure sustainability in both genetic and timber production aspects. The second chapter is a primer note describing the identification of 402 putative loci (single nucleotide polymorphisms –SNPs; and insertion/deletions- INDELs) for Ipe (Handroanthus sp.), intended to help population genetics, phylogeography and DNA fingerprinting studies. The last chapter discuss the feasibility of DNA fingerprinting for Handroanthus species. It brings genetic diversity analysis, genetic differentiation of Handroanthus sp. sample-populations, as well as among countries, self-assignment and timber assignment tests analysis.
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Гарбузова, Вікторія Юріївна, Виктория Юрьевна Гарбузова, Viktoriia Yuriivna Harbuzova, Inna Oleksandrivna Rozumenko, I. A. Forkert, Інна Олександрівна Розуменко, and Инна Александровна Розуменко. "The distribution of genotypes for the À69314G polymorphism TNAP gene in the control group and in patients with acute coronary syndrome." Thesis, Sumy State University, 2015. http://essuir.sumdu.edu.ua/handle/123456789/41294.
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Santos, Larissa Ferreira dos. "Controle neurovascular do fluxo sanguíneo muscular e da atividade nervosa simpática durante o exercício em pacientes após síndrome isquêmica miocárdica instável com polimorfismos do receptor \'beta\'2-adrenérgico Gln27Glu." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/39/39132/tde-07042015-144133/.
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A síndrome isquêmica miocárdica instável (SIMI) leva a importantes alterações neurovasculares, tais como à hiperativação simpática e a diminuição do fluxo sanguíneo muscular (FSM) tanto em repouso como durante manobras fisiológicas como o exercício. A presença de alguns polimorfismos na genética humana, como o dos receptores \'beta\'2-adrenérgicos Gln27Glu, apresenta importante associação com a funcionalidade cardiovascular em indivíduos saudáveis. Contudo, não é conhecido se em pacientes com SIMI, a presença dos polimorfismos do receptor \'beta\'2-adrenérgico leva a respostas neurovasculares distintas durante o exercício, e, ainda, se o treinamento físico poderá modificar essa resposta. OBJETIVOS: Estudar a influência do polimorfismo do receptor \'beta\'2-adrenérgico Gln27Glu no controle neurovascular da atividade nervosa simpática muscular (ANSM) e do FSM em repouso e durante o exercício físico de preensão de mão, em pacientes com SIMI e, num segundo momento, avaliar o efeito do treinamento físico nas respostas neurovasculares durante o exercício nestes pacientes. MÉTODOS: Inicialmente, foram selecionados para o estudo, 78 pacientes com SIMI com fração de ejeção >= 45%, no momento da hospitalização. Um mês após o evento isquêmico, 61 pacientes retornaram para as avaliações iniciais. Os pacientes foram genotipados e posteriormente divididos em dois grupos de acordo com o polimorfismo Gln27Glu do receptor \'beta\'2-adrenérgico: 1- Gln27Gln (CC, n=35) e 2- Gln27Glu+Glu27Glu (CG+GG, n=26). Destes, 29 pacientes concordaram em participar de um protocolo de treinamento físico por um período de 8 semanas, sendo que, 25 finalizaram o protocolo (CC, n=17; CG+GG, n=8). A avaliação do controle neurovascular foi realizada em repouso e durante o exercício físico de preensão de mãos em 30% da contração voluntária máxima. Foram avaliados a ANSM, medida pela técnica direta de microneurografia, o FSM, medido pelo método de pletismografia de oclusão venosa, a pressão arterial, medida pelo método oscilométrico indireto e a frequência cardíaca, pelo eletrocardiograma. Todas as avaliações foram realizadas nos pacientes um mês após o evento isquêmico e, para aqueles que participaram do protocolo de treinamento físico, foram repetidas após 8 semanas de intervenção. RESULTADOS: Um mês após o evento isquêmico, a ANSM (P=0,26) e a pressão arterial média (PAM, P=0,14) de repouso foram semelhantes entre os grupos com genótipo CC e CG+GG. Entretanto, durante o exercício, a resposta da ANSM foi maior no grupo CC quando comparado com o grupo com CG+GG (\'delta\'=11±2 vs. 4±2 disparos/100batimentos, P=0,02). Adicionalmente, a resposta de PAM foi maior no grupo CC quando comparado ao grupo CG+GG (\'delta\'=24±2 vs. 18±2 mmHg, P=0,04). A resposta de condutância vascular no antebraço (CVA) durante o exercício foi semelhante entre ambos os grupos. Após treinamento físico a ANSM basal diminuiu no grupo com genótipo CC (63±3 vs. 48±5 disparos/100batimentos, P <0,001), mas não no grupo com genótipo CG+GG (70±4 vs. 55±5 disparos/100batimentos, P =0,06). De forma semelhante, durante o exercício, o treinamento físico diminuiu o nível (P= 0,007) e a resposta da ANSM (\'delta\'=12±2 vs. 5±2 disparos/100batimentos, P=0,02) no grupo com genótipo CC, mas não no grupo com genótipo CG+GG (P=0,10) e (\'delta\'=7±3 vs. 7±3 disparos/100batimentos, P=0,96), respectivamente. O treinamento físico não modificou os níveis de PAM e CVA, durante o exercício, em ambos os grupos. Contudo, analisando-se o período pós-treinamento físico, o grupo CG+GG apresentou resposta de PAM menor (P=0,01) e CVA maior (P=0,03) durante o exercício quando comparado ao grupo CC. CONCLUSÃO: Pacientes com SIMI, portadores do genótipo CC do receptor \'beta\'-adrenérgico apresentam resposta aumentada da ANSM durante a manobra fisiológica de exercício, quando comparados aos pacientes com genótipo CG+GG. O treinamento físico reverte esta resposta exacerbada de ANSM nos pacientes com genótipo CC. Esses resultados sugerem um risco cardiovascular aumentado nos pacientes com SIMI com genótipo CC do receptor \'beta\'-adrenérgico. Por outro lado, o treinamento físico deve ser fortemente recomendado para esses pacientes, sobretudo naqueles com o genótipo CC.Acute coronary syndrome (ACS) leads to important neurovascular abnormalities such as sympathetic hyperactivity and decreased forearm blood flow (FBF) at rest and during physiological maneuvers as exercise. The presence of some polymorphisms in human genetics, as the β2-adrenoceptor Gln27Glu, presents a significant association with cardiovascular functionality in healthy subjects. However, it is not known whether in patients with ACS, the presence of polymorphisms of the β2-adrenoceptor leads to distinct neurovascular responses during exercise, and if the exercise training can modify this response. OBJECTIVES: To study the influence of Gln27Glu \'beta\'2-adrenoceptor polymorphisms on neurovascular control of muscle sympathetic nerve activity (MSNA) and FBF at rest and during handgrip exercise, in patients with ACS; and to evaluate the effect of exercise training on neurovascular responses during exercise in these patients. METHODS: Initially, were selected 78 patients with ACS with ejection fraction >= 45% at the time of hospitalization. One month after the ischemic event, 61 patients returned for the initial assessments. Patients were genotyped and then divided into two groups according to the Gln27Glu \'beta\'2-adrenoceptor polymorphisms: 1-Gln27Gln (CC, n=35) and 2-Gln27Glu + Glu27Glu (CG +GG, n=26). Of these, 29 patients agreed to participate in an exercise training protocol for a period of 8 weeks, but only 25 patients completed the protocol (CC, n=17; CG+GG, n=8). The evaluation of neurovascular control was performed at rest and during a handgrip exercise at 30% of the maximum voluntary contraction. We evaluated the MSNA, by the direct technique of microneurography, the FBF, by venous occlusion plethysmography technique, blood pressure (BP), by indirect oscillometric device and heart rate, by electrocardiogram. All evaluations were performed one month after the ischemic event and, for those patients subjected to the exercise training protocol the same evaluations were repeated after 8 weeks of intervention. RESULTS: One month after the ischemic event, the MSNA (P=0.26) and mean arterial pressure (MAP, P=0.14) at rest were similar between groups with genotype CC and CG+GG. However, during exercise, the response of MSNA was higher in the CC group compared with the CG+GG group (\'delta\'=11±2 vs. 4±2 bursts/100HB, P=0.02). In addition, BP response during exercise was higher in the CC group compared to the CG + GG group (\'delta\' =24 ±2 vs. 18±2 mmHg, P=0.04). The forearm vascular conductance (FVC) response during exercise was similar in both groups. After exercise training, baseline MSNA decreased in the group with CC genotype (63± 3vs. 48±5 bursts/100HB, P <0.001) but not in the group with CG+GG genotypes (70±4 vs. 55±5 bursts/100HB, P =0.06). Similarly, exercise training decreases the level (P= 0.007) and the response of MSNA (\'delta\'= 12±2 vs. 5±2 bursts/100HB, P= 0.02) during exercise in the group with CC genotype but not in the CG+GG group (P= 0.10) and (\'delta\'=7±3 vs 7±3 bursts/100HB, P= 0.96), respectively. Exercise training did not change the levels of MAP and FVC, during exercise in both groups. However, in the post exercise training period, the CG+GG group had lower MAP response (P =0.01) and higher FVC (P =0.03) during exercise compared to the CC group. CONCLUSION: Patients with ACS, carrying the CC genotype of the \'beta\'2-adrenoceptor have increased MSNA response during physiological maneuver as exercise when compared with patients carrying the CG+GG genotype. Exercise training reverses this exacerbated response of MSNA in patients with CC genotype. These results suggest an increased cardiovascular risk in patients with ACS with CC genotype of the \'beta\'2-adrenoceptor. Furthermore, exercise training should be strongly recommended for patients with ACS, especially for those with the CC genotype
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Miguita, Karen. "Estudo de associação de genes candidatos no transtorno obsessivo-compulsivo: investigação dos loci SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/5/5142/tde-23102007-110042/.
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O Transtorno obsessivo-compulsivo (TOC) é um transtorno psiquiátrico comum e heterogêneo caracterizado por obsessões (pensamentos, imagens ou impulsos intrusivos e recorrentes) e compulsões (comportamentos ou atos mentais repetitivos realizados para aliviar as obsessões). O TOC tem uma prevalência de 2 a 3% na população geral e apresenta distribuição aproximadamente igual entre os sexos, porém os homens tendem a apresentar os sintomas obsessivo-compulsivos mais precocemente quando comparado com as mulheres. Os estudos de genética epidemiológica têm demonstrado que o fator genético é um importante componente na etiologia do TOC. O principal objetivo desta dissertação foi investigar a influência de alguns genes candidatos na susceptibilidade para o TOC (estudo de genes candidatos) e também qual a influência destes mesmos genes na resposta terapêutica à clomipramina (estudo de farmacogenética). Realizamos o estudo de genes candidatos num total de 215 pacientes e 872 controles. Os loci investigados foram: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2. Os mesmos polimorfismos foram investigados em uma sub-amostra de 41 pacientes tratados com clomipramina e analisados de acordo com a resposta terapêutica. Foram classificados como respondedores ao tratamento, os pacientes que tiveram uma redução de 40% ou mais na escala YBOCS. Assim, 27 pacientes foram considerados respondedores e 14 nãorespondedores. Diferenças genotípicas e alélicas foram observadas em alguns resultados nos pacientes e controles. Entretanto, nenhuma associação foi observada nas análises para resposta à clomipramina. Os resultados sugerem que alguns polimorfismos estudados podem estar relacionados ao aumento do risco para o TOC, porém, nenhum polimorfismo foi associado à resposta terapêutica à clomipramina.Obsessive-compulsive disorder (OCD) is a common and heterogeneous psychiatric disorder characterized by obsessions (intrusive and recurrent thoughts, images or impulses) and compulsions (repetitive behaviors or mental acts performed to relive obsessions). OCD prevalence range from 2 to 3% in general population and has approximately equal sex distributions, however men tend to have an earlier age at onset of obsessive-compulsive symptoms comparing to women. Epidemiologic studies have demonstrated that genetic factor is an important component in the etiology of OCD. The aim of this study was to investigate participation of some candidate genes in the susceptibility to OCD and also their effects on clomipramine treatment. We performed a candidate gene study in a total of 215 OCD patients and 865 controls. The loci investigated were: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT and SLC6A2. The same polymorphisms were investigated in a sub-sample of 41 patients treated with clomipramine, and analyzed according to therapeutic response. There were considered good responders to the drug those patients who presented a reduction of 40% or more in Y-BOCS scale. According to this, 27 patients were good responders and 14 poor responders. Genotypic and allelic differences were observed in some results for patients and controls. However, no association was observed in the analyses for clomipramine response. Our results suggest that some polymorphisms investigated may be related to the increase of risk to develop OCD, but they are not associated to therapeutic response to clomipramine.
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Bahia, Valéria Santoro. ""Polimorfismos da região promotora e codificadora do gene APOE e do gene LRP na doença de Alzheimer em indivíduos brasileiros"." Universidade de São Paulo, 2003. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-18042006-143140/.
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Objetivos: Analisar a relevância dos polimorfismos da APOE, -491 e -219 e do LRP na ocorrência de doença de Alzheimer (DA) em indivíduos brasileiros. Metodologia: Realizou-se o estudo em 120 pacientes com DA provável e em 120 controles. Resultados: Houve diferença quanto à freqüência do alelo e4 da APOE, (31% dos pacientes e 10% dos controles). A presença do alelo e2 conferiu efeito protetor. Os polimorfismos das posições -219 e -491 da APOE e do gene LRP não mostraram correlação com DA. Conclusões: O alelo e4 do gene APOE mostrou-se associado a maior risco de DA e o alelo e2 conferiu efeito protetor. Não foi encontrada correlação entre DA e os outros polimorfismosOBJETIVE: To investigate the role of polymorphisms APOE,-491 and -219 and LRP patients with Alzheimer's disease (AD) and controls in Brazilian individuals.METHODS: One hundred twenty patients and 120 controls were selected for the assessment. RESULTS: The frequency of the e4 allele was 0.31 in patients and 0.10 in controls. The presence of allele e2 was protective factor. No significant difference emerged for the polymorphisms of the localization -219 and -491 of APOE and of the LRP gene. CONCLUSION: These results confirm the relevance of the e4 allele like genetic risk factor and the protective role of the e2 allele in AD. We did not notice any difference in patients and controls for polymorphisms of the LRP and APOE promoter region polymorphism in this study
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Torkko, Kathleen Carroll. "Vitamin D receptor gene polymorphisms and prostate cancer /." Connect to full text via ProQuest. IP filtered, 2005.
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Thesis (Ph.D. in Epidemiology) -- University of Colorado at Denver and Health Sciences Center, 2005.Typescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;
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Felipe, Aledson Vitor [UNIFESP]. "O polimorfismo –251 A/T na região promotora do gene da interleucina 8 e o risco de câncer gástrico: estudo caso-controle." Universidade Federal de São Paulo (UNIFESP), 2010. http://repositorio.unifesp.br/handle/11600/9863.
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Previous issue date: 2010-04-28Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Introdução: A infecção por Helicobacter pylori está associada ao câncer gástrico (CG) não localizado na região da cárdia, no entanto, apenas uma pequena proporção das pessoas infectadas desenvolvem esta neoplasia. Estudos sobre cepas específicas dessa bactéria demonstram que os fatores genéticos e ambientais estão associados a esta carcinogênese. A Interleucina-8 (IL-8) desempenha um papel importante na inflamação da mucosa do estômago após a infecção por H. pylori. Estudos têm demonstrado que o polimorfismo da IL-8 pode aumentar o risco de CG. Objetivo: Investigar a associação entre o polimorfismo da IL-8, infecção por H. pylori, hábitos de vida e risco de CG. Casuística e métodos: Estudo caso-controle feito em pacientes com CG não-cárdia em comparação com indivíduos saudáveis na proporção de 1:2, respectivamente. O DNA foi extraído de leucócitos, purificado e a análise do polimorfismo foi feita pela técnica de PCR-RFLP e visualizado por eletroforese em gel de agarose a 5%. Infecção por H. pylori foi investigada pelos níveis séricos de anticorpos anti-H.pylori. Aspectos ambientais como tabagismo, etilismo e dieta foram investigados por questionário. Resultados: Um total de 312 indivíduos foi estudado, sendo 208 controles e 104 pacientes com câncer. Não houve diferença significante entre sexo ou idade, entre o grupo controle e os pacientes com CG. A proporção de pacientes infectados pelo H. pylori foi semelhante (p=0,15) entre os grupos controle (53,8%) e caso (45,2%). Menor frequência do genótipo AA foi encontrada no grupo com câncer (p = 0,01), sem diferença entre os alelos A e T. O tabagismo (p=0,001), acentuada ingestão de gordura (p=0,003) e baixa ingestão de legumes (p=0,02), foram mais frequentes no grupo caso. A análise de regressão logística multivariada demonstrou maior risco de CG em indivíduos com o genótipo heterozigoto AT (OR: 2,28 95%IC 1,16-4,49; p=0,02) e consumo excessivo de gordura (OR: 1,77 95%IC 1,12-2,92; p=0,03). Fumantes e ex-fumantes também demonstraram maior risco de CG quando comparados ao grupo controle (OR: 1,89 95%IC 1,41-3,11; p=0,01). Conclusões: A presença do genótipo AT está associada à elevação do risco de CG em aproximadamente duas vezes. O percentual de pacientes com CG infectados pelo H. pylori, diagnosticado pelos níveis de anticorpos séricos, não foi diferente do grupo controle na população estudada. Não observamos correlação entre a frequência alélica e o risco de CG. Indivíduos que consomem gorduras em excesso, ex-fumantes e fumantes têm maior risco de CG.
Background: Helicobacter pylori infection is associated with gastric cancer (GC) non-cardia, however, only a small proportion of infected people develop this cancer. Studies on specific strains of bacteria showed that the genetic and environmental factors are associated with this carcinogenesis. Interleukin-8 (IL-8) plays an important role in inflammation of the stomach mucosa after infection with H. pylori. Studies have shown that the polymorphism of IL-8 may increase the risk of GC. Objective: To investigate the association between polymorphism of IL-8, infection with H. pylori, lifestyle and risk of GC. Patients and methods: Case-control study done in patients with non-cardia GC compared with healthy subjects in the ratio 1:2, respectively. DNA was extracted from white blood cells, purified and polymorphism analysis was performed by PCR-RFLP and visualized by agarose gel electrophoresis to 5%. Infection with H. pylori was investigated by serum antibodies to H. pylori. Environmental issues such as smoking, alcohol consumption and diet were investigated by questionnaire. Results: A total of 312 individuals was studied, and 208 controls and 104 cancer patients. No significant differences between sex or age between the control group and patients with CG. The proportion of patients infected by H. pylori was similar (p=0.15) between the control group (53.8%) and case (45.2%). Lower frequency of AA genotype was found in the cancer group (p=0.01), however, no difference between alleles A and T. Cigarette smoking (p=0.001), sharp intake of fat (p=0.003) and low intake of vegetables (p=0.02) were more frequent in case group. A multivariate logistic regression analysis demonstrated a higher risk of GC in subjects with the heterozygous genotype AT (OR: 2.28 95% IC 1,16-4,49, p=0.02) and excessive consumption of fat (OR: 1 77 95% CI 1,12-2,92, p = 0.03). Smokers and former smokers also showed increased risk of GC compared to the control group (OR: 1.89 95% CI 1,41-3,11, p=0.01). Conclusions: The presence of the AT genotype is associated with increased risk of GC in about two times. The percentage of patients with GC infected with H. pylori, diagnosed by serum antibody levels was not different from the control group in the population. No correlations between allele frequency and risk of GC. Individuals who consume too much fat, ex-smokers and smokers have a higher risk of GC.
FAPESP: 08/05763
TEDE
BV UNIFESP: Teses e dissertações
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Bunt, Thomas Michael. "Reproductive Isolation and Genetic Divergence in a Young "Species Flock" of Pupfishes (Cyprinodon sp.) from San Salvador Island, Bahamas." Thesis, Virginia Tech, 2001. http://hdl.handle.net/10919/31212.
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The study of the process of speciation is instrumental to understanding the species diversity observed today. Diverging populations are intriguing, because speciation has not reached an endpoint, yet the process that may eventually lead to distinct species can be studied. Systems that contain many putative species and/or parallel divergences, such as many species flocks and species pairs, are extraordinary examples of divergence and therefore are critical to the understanding of the speciation process. A "miniature" species flock of pupfish (Cyprinodon variegatus) discovered in lakes on San Salvador Island, Bahamas has evolved in less than 6 000 years, and is, therefore, important to the study of the pace of evolutionary processes. The San Salvador Island pupfish flock is composed of a normal form, which resembles coastal C. variegatus, and bulldog and bozo morphs, which diverge ecologically and morphologically from the normal morph.
In Chapter 1, I sequenced the mtDNA control region and used haplotype frequency analyses to assess the level of differentiation between sympatric normals and bulldogs sampled from Osprey Lake and Little Lake on San Salvador Island. The bozo morph was too rare to include in the study. I also included samples of normals that occur in lakes without bulldog and bozo morphs to assess any differences between lakes on the island. All haplotype frequency comparisons for sympatric normals and bulldogs were highly significant, which suggests these morphs are distinct populations in sympatry and, therefore, have characteristics of biological species. Further, an estimation of Time for Speciation supports geological data that suggest this fauna is very young (6 000 years). The San Salvador Island pupfish species flock is, therefore, the youngest known species flock and presents an important model system for the study of how morphological and ecological divergence can promote speciation in Cyprinodon.
In Chapter 2, I first compared the San Salvador Island pupfishes to other Bahamian C. variegatus populations to assess the level of inter- and intra-island pupfish population differentiation in the Bahamas. The mtDNA control region was sequenced for bulldogs and normals from San Salvador Island and normals sampled from New Providence and Exuma Islands. San Salvador Island bulldogs were found to be distinct from all normal populations sampled, and comparisons of shared haplotypes suggest they originated on San Salvador Island rather than any of the other islands sampled. This was intriguing, because a "bulldog-like" morph has recently been observed in a lake on New Providence Island, which suggests parallel divergences may be occurring throughout the Bahamas. I also sequenced the mtDNA cytochrome b gene to assess the phylogeography of C. variegatus. Populations were sampled from the Bahamas and the east coast of North America, and the results suggest the Bahamas were only recently colonized by the Southern coastal lineage of C. variegatus. A distinct Northern lineage of C. variegatus, which may warrant species designation, was also supported by the cytochrome b data. Overall, the results supported a San Salvador Island origin for the Little Lake and Osprey Lake bulldog morphs, and also suggest the Bahamian C. variegatus populations are very young.Master of Science
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Bourgeault, Adeline. "Bioaccumulation par Dreissena polymorpha: quel reflet de la contamination chimique du milieu ? : Expérimentation – Observation – Modélisation." Phd thesis, Université Pierre et Marie Curie - Paris VI, 2010. http://tel.archives-ouvertes.fr/tel-00546985.
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Dans le contexte réglementaire de la Directive Cadre sur l'Eau, il est nécessaire d'évaluer l'impact de la contamination métallique sur les milieux aquatiques pour pouvoir établir un diagnostic des masses d'eau. Intégrer dans ce diagnostic, la biodisponibilité des métaux par une mesure de la bioaccumulation dans des organismes modèles, permet d'évaluer plus finement le risque pour l'environnement. Cependant le lien entre la bioaccumulation et la contamination chimique du milieu reste difficile à établir puisqu'il dépend de paramètres physico-chimiques et physiologiques. Afin de faire ce lien chez la moule zébrée, nous avons utilisé un modèle cinétique de bioaccumulation: le modèle biodynamique. Des expositions en laboratoire ont permis d'étudier l'influence de la physico-chimie de l'eau (concentration en calcium, zinc et matière organique dissoute) sur les constantes d'accumulation du modèle par voie dissoute et de mettre au point un protocole d'exposition permettant de déterminer les constantes d'assimilation par voie trophique. L'effet compétiteur des ions (Ca et Zn) sur l'accumulation du Cd et du Ni par voie dissoute a été mis en évidence et intégré au modèle biodynamique par une approche s'inspirant du modèle du ligand biologique (BLM). Des suivis de contamination de dreissènes transplantées, de 2 mois et 1 an, ont mis en évidence la capacité du modèle à relier la contamination métallique du milieu à celle des organismes, en prenant en compte la physicochimie du milieu (notamment le niveau trophique) et la physiologie de l'organisme (taux de filtration, taux de croissance).
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Oliveira, Rafael Nepomuceno. "Investigação de polimorfismos genéticos e metabolismo lipídico com doença periodontal crônica : metanálise e estudo caso-controle /." Araraquara, 2018. http://hdl.handle.net/11449/153851.
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Orientador: Raquel Mantuaneli Scarel-CaminagaResumo: Diversos fatores relacionados ao hospedeiro, como fatores ambientais (tabagismo), doenças sistêmicas (diabetes e dislipidemia) e herança genética vêm sendo estudados quanto à influência no início e progressão da doença periodontal. Embora muitos estudos tenham investigado a relação entre dislipidemia e periodontite crônica (PC), examinando os níveis séricos de lipídeos, os resultados ainda são contraditórios, indicando a demanda da realização de uma metanálise. Alguns Genome-Wide Association Studies (GWAS), estudos de bioinformática e diversos estudos caso-controle evidenciaram variantes genéticas associadas à suscetibilidade à periodontite, mas os resultados para alguns desses polimorfismos são escassos ou contraditórios entre as diferentes populações. Assim, nota-se a importância de realizar metanálises e estudos caso-controle para buscar validar ou identificar a associação de polimorfismos com a PC na população brasileira. O objetivo deste estudo foi dividido em 3 capítulos: (1) investigar se os pacientes com PC apresentam diferentes níveis séricos de parâmetros lipídicos (HDL, LDL, colesterol total e triglicérides) em comparação com indivíduos saudáveis; (2) avaliar se polimorfismos de base única (SNPs, single nucleotide polymorphisms) nos genes LDLR (rs5925 e rs688) e APOB (rs676210 e rs693) contribuem para a suscetibilidade à PC, uma vez que PC está associada a níveis plasmáticos de LDL mais elevados, e os polimorfismos nestes genes podem aumentar as concentrações plasm... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Several factors related to the host, such as environmental factors (smoking), systemic diseases (diabetes and dyslipidemia) and genetic inheritance have been studied regarding the influence on the onset and progression of periodontal disease. Although several studies have investigated the relationship between dyslipidemia and chronic periodontitis (CP), focusing on serum lipid levels, the results are still contradictory, indicating the necessity of a meta-analysis. Some genome-wide association studies (GWAS), bioinformatics studies and several case-control studies have shown genetic variants associated with susceptibility to CP, but the results of some of these polymorphisms are sparse and contradictory among different populations. Thus, it is important to conduct meta-analysis and case-control studies in order to validate or identify an association of polymorphisms with CP in a Brazilian population. The objective of this study was divided into three chapters: (1) to investigate whether patients with CP present different serum levels of lipid parameters (HDL, LDL, total cholesterol and triglycerides) compared to healthy individuals; (2) to assess whether single nucleotide polymorphisms (SNPs) in the LDLR (rs5925 and rs688) and APOB (rs676210 and rs693) genes contribute to CP susceptibility, since CP is associated with higher plasma LDL levels and the polymorphisms of these genes may increase plasma LDL concentration; (3) to validate, in the Brazilian population, the associati... (Complete abstract click electronic access below)
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Barbosa, Keila Cardoso. "Estudo de polimorfismos dos genes EGF e EGFR em astrocitomas difusamente infiltrativos." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-24062008-150231/.
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INTRODUÇÃO: Os astrocitomas difusamente infiltrativos são os tumores mais freqüentes de Sistema Nervoso Central (SNC) com uma taxa de 5-7 novos casos por 100.000 pessoas ano. São tumores altamente invasivos e estão associados com alterações de alguns genes como EGF (fator de crescimento epidérmico) e o EGFR (receptor do fator de crescimento epidérmico), que podem criar um aumento da atividade mitogênica, acarretando aumento de proliferação e maturação celular, apoptose, angiogênese e metástase. O nível de expressão destes genes pode ser influenciado por alterações genéticas, como a presença de polimorfismos. Uma mudança única de base (SNP) pode alterar a expressão gênica e, sendo assim, estar associada ao aumento do risco de desenvolver astrocitomas. Nesse trabalho, foram analisados 2 SNPs na região não traduzida (c.-191C>A e c.-216G>T) e um SNP no exon 16 (c.2073A>T) do gene EGFR, e um outro SNP na região não traduzida no gene EGF (c.61A>G). Os SNPs foram associados a expressão gênica do EGFR e a sobrevida dos pacientes. MÈTODOS: Foi realizado um estudo caso-controle com 193 casos de astrocitomas difusamente infiltrativos e 200 controles por amplificação por PCR seguido de digestão enzimática. Os produtos digeridos das amostras foram analisados por eletroforese em gel de agarose e poliacrilamida e corados com brometo de etídeo. A expressão gênica foi realizada após extração de RNA do tecido tumoral seguida de transcrição reversa e PCR em tempo real. Testes de qui-quadrado, odds ratio (OR), intervalo de confiança 95% (IC95%), t de Student e curvas de Kaplan-Meier foram realizados para análises estatística. RESULTADOS: A análise das freqüências dos genótipos dos polimorfismos mostrou uma diferença na distribuição entre casos e controles para o polimorfismo c.2073A>T. Pacientes com o genótipo TT apresentou um menor risco para astrocitoma quando comparados com o genótipo AA (OR=0,51, IC95%=0,29-0,99). Nenhuma correlação foi encontrada para os outros polimorfismos analisados. Também não foi encontrada correlação entre os genótipos dos polimorfismos e os níveis de expressão de EGFR e a sobrevida dos pacientes. CONCLUSÃO: Nosso trabalho mostrou haver um possível fator de proteção quando o paciente é portador do genótipo TT, o que pode levar a uma diminuição do risco de desenvolver o tumor. Pacientes com genótipo TT do polimorfismo c.2073A>T do gene EGFR apresentam um menor risco para astrocitomas difusamente infiltrativos do que os com o genótipo AA.INTRODUCTION: Diffusely infiltrative astrocytomas are the most frequent tumors of the Central Nervous System (CNS) with a rate of 5-7 new cases in 100,000 individuals per year. They are highly invasive, and they are associated to alterations in some genes as EGF (epidermal growth factor) and EGFR (epidermal growth factor receptor), which may increase mitogenic activity, leading to increase of proliferation, cellular maturation, apoptosis, angiogenesis, and metastasis. Genetic alterations, as presence of polymorphisms of single nucleotide change (SNP) could influence their expression level, and thus could be associated to increased risk in developing astrocytomas. In the present study, two SNP of non-coding region (c.-191C>A and c.-216G>T) and one SNP in exon 16 (c.2073A>T) of EGFR, and another SNP of non-coding region of EGF (c.61A>G) were analyzed. The SNPs were associated to EGFR expression level and to survival time. METHOD: a case-control study of 193 of diffusely infiltrative astrocytomas and 200 controls was carried out, with PCR amplification and enzymatic digestion, which products were analyzed in agarose gel or polyacrylamide gel electrophoresis stained by ethidium bromide. EGFR expression level was studied by real time PCR after RNA extraction followed by reverse transcription of tumor tissues compared to epileptic non-neoplastic brain tissues. Stastistical analysis were performed by chi-square, odds ratio (OR), 95% confidence interval (95% CI), Student-t test and Kaplan Meier. RESULTS: The polymorphic genotype frequency was different between case and controls for the polymorphism c.2073A>T. Patients with TT genotype presented lower risk to develop astrocytoma when compared to genotype AA (OR=0.51, CI95%=0.29- 0.99). No other correlation was observed for the remaining studied polymorphisms. There was neither correlation between the polymorphic genotypes and the EGFR expression levels nor with survival time. CONCLUSION: The present study showed a possible protection factor in developing astrocytomas for the patients harboring the genotype TT of c.2073A>T polymorphism of EFGR, thus the patients presenting TT genotype have lower risk to develop diffusely infiltrative astrocytoma than patients presenting the genotype AA.
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Guirado, Marluci Monteiro [UNESP]. "Padrões de esterases em populações resistentes e suscetíveis de Aedes aegypti (Diptera, Culicidae)." Universidade Estadual Paulista (UNESP), 2008. http://hdl.handle.net/11449/102721.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Hoje se sabe que as enzimas esterásicas estão relacionadas com o desenvolvimento de resistência a inseticidas, em muitos organismos. Em Aedes aegypti, a dedução desse envolvimento tem resultado mais de testes que permitem a avaliação da atividade das esterases no extrato total dos mosquitos (mostrando valores maiores nas populações resistentes) do que de estudos mais profundos de padrões e bandas individualizadas e sua relação com a resistência. Com o objetivo básico de contribuir para o conhecimento desse aspecto, no presente trabalho 11 populações geográficas daquele vetor, sendo seis classificadas como resistentes, três como suscetíveis e duas como tendo suscetibilidade diminuída, foram analisadas quanto ao polimorfismo de esterases, por eletroforese em géis de poliacrilamida. O resultado do estudo de cerca de 30 amostras de larvas e adultos de cada população mostrou 24 bandas que foram tentativamente associadas com oito loci genéticos. Considerando também os dados de Lima-Catelani et al. (2004) e de Sousa-Polezzi & Bicudo (2005), temos o total de 25 bandas esterásicas, incluídas em 12 supostos loci, em 15 populações daquele vetor, até a presente data. A população de São José do Rio Preto, analisada em intervalos de cinco anos entre aqueles dois estudos, e sete anos entre Sousa-Polezzi & Bicudo (2005) e o presente trabalho, mostrou modificações no padrão de esterases, que ocorreram ao longo do tempo paralelamente ao surgimento e aumento da resistência aos inseticidas utilizados no controle, nessa população. Essas modificações abrangeram, basicamente, aumento ou diminuição da freqüência de algumas bandas e ausência de bandas previamente detectadas. De modo geral, a busca por padrões esterásicos específicos, relacionados ao desenvolvimento da resistência, indicou algumas bandas ou combinações de bandas para um estudo mais aprofundado. Essas bandas são: EST-1, sozinha, devido à sua alta freqüência em cinco das seis populações classificadas como resistentes, a combinação de EST-1 com EST-4, ambas ocorrendo simultaneamente, de forma predominante nas populações resistentes, e as colinesterases , detectadas nas 11 populações, mas apresentando freqüências mais altas em quatro das seis populações consideradas resistentes. Diante do conhecimento atual sobre as esterases e sua relação com a resistência a inseticidas, em A. aegypti, no presente trabalho é discutida a possibilidade de que a quantidade total de esterases (principalmente das carboxilesterases) produzidas por um grupo de genes possa ser mais importante em gerar resistência do que o grau de expressão de genes individuais que codificam para bandas específicas. Contudo, entendemos que as bandas destacadas neste trabalho devem ser alvo de um estudo mais detalhado, antes que essa hipótese ganhe maior força.
It is presently known that the esterases are involved in the process of resistance to insecticides, in several organisms. In Aedes aegypti, the conclusion about such involvement resulted rather from tests in which the total amount of esterases is computed in extracts of the mosquitoes (showing greater quantities in the resistant ones) than from deeper studies of esterase patterns or particular esterase bands and their relationship with resistance. With the basic aim to contribute to the knowledge of this relationship, in the present study the esterase polymorphism of 11 geographic populations of that vector, being six classified as resistant, three as susceptible and two as presenting decreased susceptibility, was studied by electrophoresis in polyacrylamide gels. The results of the analysis of about 30 individual samples of larvae and adults of each population showed 24 esterase bands which were tentatively associated to eight loci. Considering also the data from Lima-Catelani et al. (2004) and Sousa-Polezzi & Bicudo (2005), a total of 25 bands and 12 loci, in 15 populations, was obtained. The population from São José do Rio Preto, analyzed at intervals of five years between those two studies and seven years between Sousa-Polezzi & Bicudo (2005) and the present study, showed changes in the esterase pattern, which occurred along time concomitant to the increase of insecticide resistance in that population, including frequency increase or decrease of some bands and absence of bands previously detected. The search for specific esterase patterns related to the resistance development indicated some bands and combinations of bands as deserving a deeper study. They are EST-1 alone, due to high frequency in five of the six resistant populations, or the combination of EST-1 with EST-4, both occurring simultaneously, with high frequency, mainly in the resistant populations, and the cholinesterases, which although present in the 11 populations, showed higher frequencies in four of the six resistant ones. In front of the present knowledge on esterases related with resistance, in A. aegypti, we discuss the possibility that the total amount of esterases (mainly carboxilesterases) produced by a group of genes might be more important in the generation of resistance than the degree of expression of genes codifying particular bands. However, we understand that the bands stood out in the present study must be the target of a more detailed analysis, before this hypothesis gains a greater consideration.
FAPESP: 05/59219-5
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Markkanen, P. (Piia). "Human δ opioid receptor:the effect of Phe27Cys polymorphism, N-linked glycosylation and SERCA2b interaction on receptor processing and trafficking." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789514298219.
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Abstract The delta opioid receptor (δOR) is a member of the G protein-coupled receptor family. This transmembrane receptor has an important role in the regulation of pain. The OPRD1 gene that encodes the human δOR (hδOR) contains at least 11 single-nucleotide polymorphisms (SNPs). The only nonsynonymous SNP resides in the amino-terminal (N-terminal) domain of the receptor and it replaces Phe at position 27 with Cys, thus introducing an unpaired Cys residue on the extracellular surface of the receptor. The Cys27 variant has been shown to have an allelic frequency of about 10% in Caucasian populations. The polymorphic site is flanked by two putative N-glycosylation sites at Asn18 and Asn33. In this study, the folding, maturation and trafficking of hδOR was assessed using the hδORPhe27 and hδORCys27 variants and the N-glycosylation deficient forms of the latter as models in a heterologous expression system. The effects of N-glycosylation and the unpaired Cys-residue were studied with various biochemical, pharmacological and cell biological methods. In addition, protein-protein interactions of the intracellular hδOR precursors were assessed. The hδORCys27 and hδORPhe27 variants differed significantly in their subcellular localization and maturation efficiency. The newly synthesized hδORCys27 was found to accumulate in the endoplasmic reticulum (ER) prior to its ER-associated degradation in proteasomes. Although a slow maturation rate was characteristic for both variants, only the hδORCys27 had poor maturation efficiency. The cell surface expression of hδORCys27 was further decreased because the constitutive internalization of this receptor was enhanced compared to hδORPhe27. N-linked glycosylation was not required for hδOR function or ligand binding, but was important for the expression of the correctly folded receptor species at the cell surface. The mutant non-N-glycosylated receptor was shown to traffic to the cell surface with enhanced kinetics, but some of the plasma membrane receptors were in a nonnative conformation. Also, the overall levels of the non-N-glycosylated hδORCys27 were decreased as the receptor was efficiently internalized for lysosomal degradation in a constitutive fashion. The hδORCys27 and hδORPhe27 precursors were found to interact with several ER localized proteins, such as calnexin (CNX), protein disulfide isomerase (PDI) and ERp72. The receptors also associated with the sarco(endo)plasmic reticulum calcium ATPase 2b (SERCA2b), which was shown to occur during translocation of the receptor to the ER membrane or immediately thereafter. The interaction was not receptor N-glycan dependent and the normal functional activity of SERCA2b was shown to be required for proper cell surface expression of hδORTiivistelmä δ-opioidireseptori kuuluu G-proteiinikytkentäisiin reseptoreihin, ja sillä on tärkeä rooli kivun säätelyssä. Ihmisen δ-opioidireseptoria koodaavassa OPRD1 geenissä on havaittu ainakin 11 yhden nukleotidin polymorfiaa. Vain yksi tunnetuista polymorfioista aiheuttaa muutoksen proteiinin aminohapposekvenssiin. Se sijaitsee reseptorin aminoterminaalisessa osassa ja se muuttaa fenyylialaniinin (Phe) kohdassa 27 kysteiiniksi (Cys), joka on pariton. Cys27-variantin yleisyys eurooppalaisessa väestössä on noin 10 %. Polymorfisen kohdan molemmilla puolilla on N-glykosylaatiokohdat asparagiineissa Asn18 ja Asn33. Tämän työn tavoitteena oli tutkia δ-opioidireseptorin laskostumista, maturaatiota ja kuljetusta heterologisessa solumallissa käyttämällä Phe27- ja Cys27-variantteja sekä Cys27-variantin N-glykosyloimatonta mutanttia. Cys27-polymorfian ja N-glykosylaation vaikutuksia tutkittiin useilla biokemiallisilla, farmakologisilla sekä solubiologisilla menetelmillä. Lisäksi työssä tutkittiin solunsisäisen δ-opioidireseptorin esiasteen vuorovaikutusta muiden proteiinien kanssa. Phe27- ja Cys27-varianttien sijainti solun sisällä ja maturaatiotehokkuus eroavat toisistaan merkittävästi. Vastasyntetisoitu Cys27-variantti kerääntyy endoplasmakalvostoon, josta se ohjautuu proteasomihajoitukseen. Molemmat variantit kulkeutuvat solun pintaan hitaasti. Cys27-variantin prosessointi on huomattavasti tehottomampaa ja sen määrää solun pinnalla vähentää myös lisääntynyt ohjaaminen solunsisäiseen lysosomihajotukseen. N-glykosylaatiolla ei havaittu olevan vaikutusta reseptorin toimintaan tai ligandin sitomiseen, mutta sillä on tärkeä merkitys oikein laskostuneiden reseptorien kuljetukselle solun pinnalle, koska osa pintaan päässeistä N-glykosyloimattomista reseptoreista on muodossa, johon reseptorispesifinen ligandi ei sitoudu. Vaikka mutanttireseptori kulkeutuukin solun pintaan nopeammin, sen määrä solun pinnalla on alhaisempi, koska mutanttireseptori ohjataan huomattavan nopeasti solun pinnalta lysosomihajotukseen. Phe27- ja Cys27-varianttien havaittiin olevan myös vuorovaikutuksessa eräiden endosomaalisen kalvoston proteiinien kanssa, kuten kalneksiinin, proteiinidisulfidi-isomeraasin ja ERp72-proteiinin. Kumpikin reseptori havaittiin yhteisessä rakenteessa sarko(endo)plasmakalvoston kalsium-ATPaasi 2b -pumpun (SERCA2b) kanssa N-glykosylaatiosta riippumattomalla tavalla. Nämä proteiiniryhmät muodostuvat, kun reseptori liitetään synteesin aikana endoplasmakalvostoon tai heti sen jälkeen. Vuorovaikutus toiminnallisen SERCA2b:n kanssa havaittiin tärkeäksi toimintakykyisen δ-opioidireseptorin esiintymiselle solun pinnassa
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Franz, Juliana Pires Marafon. "Estudo de polimorfismos dos genes CXCR2 e IL-8 em pacientes com câncer de próstata e grupo controle." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/139982.
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A Interleucina 8 (IL-8) é uma quimiocina CXC angiogênica que tem papel importante no desenvolvimento e progressão de vários tumores malignos, incluindo o câncer de próstata (CaP). O polimorfismo de nucleotídeo único (SNP) -251 T/A da região promotora do gene da IL-8, relativo ao local de início da transcrição deste gene, está associado com a produção desta citocina. O efeito da IL-8 é mediado através de dois receptores de alta afinidade, CXCR1 e CXCR2. O presente estudo investigou a influência da variação dos genes IL-8 e CXCR2 na susceptibilidade e nas características clinicopatológicas do CaP em um grupo de brasileiros. Duzentos e um pacientes e 185 controles saudáveis foram selecionados neste estudo casocontrole. Amostras de sangue foram coletadas para extração de DNA; a tipagem da IL-8 -251 T/A e CXCR2 +1208 C/T foi realizada através da reação em cadeia da polimerase com sequência específica de primers (PCR-SSP), seguida pela eletroforese em gel de agarose. O risco associado entre os genótipos, a susceptibilidade do CaP e as características do tumor, foi estimado pelo odds ratio (OR), com intervalo de confiança de 95%, usando análise de regressão logística e ajustando para idade ao diagnóstico. Encontramos uma associação estatisticamente significativa entre o genótipo heterozigoto CT do gene CXCR2 +1208 e CaP. Este genótipo foi significativamente menos frequente em pacientes com estádio clínico T3-T4 comparado com T1-T2 (56.7% versus 80.5%). Nossos achados sugerem que os portadores do genótipo CT CXCR2 +1208 tiveram um efeito protetor para estádio avançado de CaP (CT versus CC: OR ajustado = 0.25; P = 0.02). Não foi encontrada associação significativa entre o polimorfismo -251 T/A da IL-8 e os parâmetros clinicopatológicos do CaP. Estes resultados indicam que o genótipo CT do CXCR2 +1208 é menos frequente em estádios avançado de CaP, sugerindo que este receptor de quimiocina tenha um papel na patogênese desta doença.Interleukin-8 (IL-8) is an angiogenic CXC chemokine that plays an important role in both the development and progression of several human malignancies including prostate cancer (PC). A single nucleotide polymorphism (SNP) at -251 upstream of the transcriptional start site of the IL-8 gene has been shown to influence its production. The effects of IL-8 are mediated by two highly related chemokine receptors, CXCR1 and CXCR2. The present study investigated the influence of the IL-8 and CXCR2 gene variation on susceptibility and clinicopathological characteristics of PC in a group of Brazilian subjects. Two hundred and one patients and 185 healthy controls were enrolled in a case-control study. Blood was collected for DNA extraction; typing of IL-8 -251 T/A and CXCR2 +1208 C/T genes was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP), followed by agarose gel electrophoresis. Risk association between the genotypes, PC susceptibility and tumor characteristics was estimated by odds ratio (OR) and 95% confidence intervals (95% CI) using logistic regression analysis, after adjusting for age at diagnosis. A significant association was found between the heterozygous CXCR2 +1208 CT genotype and PC. The CXCR2 +1208 CT genotype was significantly less frequent in patients with clinical stage T3-T4 compared to T1-T2 (56.7 versus 80.5%). Our findings suggest that carriers of the CXCR2 +1208 CT genotype had a protective effect for advanced PC (CT versus CC: adjusted OR = 0.25; P = 0.02). No association was observed between the SNP for IL-8 -251 T/A and clinicopathological parameters of PC. These results indicated that the CXCR2 +1208 CT genotype is less frequent in advanced stages of PC, suggesting that this chemokine receptor plays a role in the pathogenesis of this disease.
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Gelmetti, Adriana Peixoto. "Polimorfismo do receptor IgG FcyRIIa em pacientes com nefrite lúpica e glomerulopatias." Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/5/5148/tde-19032007-085120/.
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O Lúpus Eritematoso Sistêmico (LES) é uma doença auto-imune caracterizada pela deposição de imunocomplexos nos tecidos. O clareamento de imunocomplexos está comprometido no LES, contribuindo para a patogênese da nefrite lúpica. Os receptores Fcg (FcgR) participam do clareamento dos imunocomplexos contendo IgG, pois se ligam à porção Fc desta molécula. O FcgRIIa é um receptor que tem dois alelos co-dominantemente expressos, o R131 e o H131, os quais diferem na sua eficiência em se ligar a subclasses de IgG. Células que expressam o homozigoto FcgRIIa-H/H131 são as únicas que se ligam eficientemente a imunocomplexos contendo IgG2, enquanto as que expressam FcgRIIa-R/R131 o fazem de forma menos eficaz. Este polimorfismo tem sido descrito como fator de risco para nefrite lúpica, embora ainda haja controvérsias. O propósito do nosso estudo foi o de analisar, em uma população de nefrite lúpica e em outra de glomerulopatias primárias, a associação entre o genótipo FcgRIIa-R/R131 e a gravidade da doença renal na sua instalação (definida pelo momento da biópsia renal) e ao final do seguimento, bem como possíveis relações com aspectos histológicos renais. A genotipagem do receptor FcgRIIa foi realizada em 76 pacientes com nefrite lúpica e 63 com glomerulopatias primárias através da extração do DNA genômico, seguido de reação de polimerização em cadeia (PCR) e nested PCR, utilizando-se primers específicos. Os pacientes foram avaliados por parâmetros clínicos e laboratoriais. Setenta e um pacientes com nefrite lúpica realizaram biópsia renal, enquanto 5 que já se encontravam em hemodiálise não a realizaram. Pacientes com glomerulonefrite membranoproliferativa, nefropatia da IgA e glomerulonefrite proliferativa mesangial foram agrupados como glomerulopatias proliferativas enquanto os com glomeruloesclerose segmentar e focal, glomerulopatia de lesões mínimas ou glomerulonefrite membranosa foram agrupados como glomerulopatias não proliferativas. O homozigoto FcgRIIa-R/R131 foi mais prevalente no grupo com nefrite lúpica (42,1% de R/R131 e 14,5% de H/H131) em relação ao grupo com glomerulopatias primárias (23,8% de R/R131 e 23,8% de H/H131), dado este estatisticamente significativo (p<0.05). Houve segregação do genótipo FcgRIIa- R/R131 nos pacientes com nefrite lúpica quando comparados aos com glomerulopatias não proliferativas, mas não quando comparados aos com glomerulopatias proliferativas (p<0.05). Não houve diferença na distribuição genotípica do receptor FcgRIIa em relação a classe histológica de nefrite lúpica, tampouco em relação aos que evoluíram ou não para insuficiência renal (Pcr = 1,4mg/dl ao final do seguimento). Um aumento na frequência do genótipo FcgRIIa- R/R131 foi encontrado nos pacientes com nefrite lúpica apresentando níveis mais elevados de FAN (FAN>1/100) e consumo de complemento C3 (p<0,05), mas não naqueles com presença de anticorpos anti-dsDNA ou anti-fosfolípide (p>0,05). Estes achados sugerem que uma distribuição anormal dos genótipos do receptor FcgRIIa com predomínio do homozigoto R/R131 é um fator importante que pode influenciar o desenvolvimento de nefrite lúpica e de glomerulopatias proliferativas. O genótipo FcgRIIa-R/R131 também está relacionado com maior atividade lúpica (FAN>1/100 e consumo de C3) em pacientes brasileiros.Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by tissue deposition of immune complexes. Immune complex clearance is impaired in SLE, contributing to the pathogenesis of lupus nephritis. Fcg receptors (FcgR) participate in the clearance of the immune complexes containing immunoglobulin G, because they bind the Fc domain of this molecule. The FcgRIIa receptor has two co dominant alleles, R131 and H131. They differ in their efficiency to bind IgG subclasses. Cells expressing the homozygote FcgRIIa-H/H131 are the only ones, which bind efficiently immune complexes containing IgG2, whereas those expressing FcgRIIa-R/R131 do not. This polymorphism has been described as a risk factor for lupus nephritis. However, reports are still controversial. This study aims to establish the role of FcgRIIa polymorphism in the severity and prognosis of lupus nephritis compared to primary glomerulopathies, and whether it is related to histological findings or not. In 76 patients with lupus nephritis and 63 patients with primary glomerulopathies, genotyping of the FcgRIIa receptor was performed with standard PCR, followed by nested PCR using specific primers. The same patients were assessed according to clinical and laboratory patterns. Seventy-one patients with lupus nephritis underwent biopsy, while five did not since they were already under dialysis. Patients diagnosed as membranoproliferative glomerulonephritis, IgA glomerulonephritis and mesangial proliferative glomerulonephritis were grouped as proliferative glomerulopathies, while those with focal segmental glomerulosclerosis, membranous glomerulonephritis and minimal change disease were grouped as nonproliferative glomerulopathies. The homozygous FcgRIIa-R/R131 was more prevalent in lupus nephritis (42,1% being R/R131 and 14,5% H/H131) than in glomerulopathies (23,8% being R/R131 and 23,8% H/H131). These data were statistically significant (p<0.05). A segregation of the FcgRIIa-R/R131 genotype was found in patients with lupus nephritis compared to nonproliferative glomerulopathies, but not when compared to proliferative glomerulopathies (p<0.05). No relation was found between genotype distribution and histological class or renal insufficiency (end-study serum creatinine = 1.4 mg/dl). The genotype R/R131 was more prevalent in lupus nephritis patients presenting complement 3 (C3) consumption and higher antinuclear factor (ANF) titers, but not in those with antidouble- stranded DNA or antiphospholipid antibodies (p>0.05). We concluded that a skewed distribution of the FcgRIIa genotypes with R/R131 predominance may contribute to the development of lupus nephritis and proliferative glomerulopathy. In Brazilian patients, this polymorphism is also related to more intense lupus activity (ANF > 1/100 and C3 consumption).
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Carmine, Andrea. "On Parkinson's disease and schizophrenia : case control studies, cellular localization and modelling of candidate genes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-671-5.
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Muñoz, Camarillo Gloria. "La colonización del mejillón cebra, Drcissena polymorpha (Bivalvia: Dreisscnidae) en el tramo final del río Ebro: factores que controlan su distribución y abundancia." Doctoral thesis, Universitat de Barcelona, 2013. http://hdl.handle.net/10803/111332.
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El mejillón cebra, Dreissena polymorpha (Pallas, 1771), es conocido por ser una de las especies invasoras de agua dulce más dañinas, tanto desde el punto de vista ecológico como económico, a nivel mundial. Este exitoso bivalvo invasor es originario de la región Ponto-Cáspica y ha sido introducido en gran parte de Europa y Norte América. En el año 2001 fue descubierto en aguas de la Península Ibérica, concretamente en el bajo Ebro. Desde entonces las poblaciones de mejillón cebra se han extendido a gran parte de dicha cuenca e incluso a otras cuencas de la Península.
Los importantes impactos tanto ecológicos como económicos producidos por el mejillón cebra en las masas de agua que ha colonizado han fomentado el estudio de dicha especie. En el caso de la cuenca del Ebro los trabajos realizados aún son escasos. La presente tesis se centra en el estudio de las poblaciones de mejillón cebra del tramo bajo del Ebro, entre la cola del embalse de Mequinenza (Zaragoza) y el límite superior de la zona estuarina (Tarragona).
A lo largo del presente trabajo se obtuvo información sobre la estructura, los patrones de distribución y la dinámica de las poblaciones de mejillón cebra presentes en los embalses de Mequinenza, Ribarroja y Flix durante un año completo. Se estudiaron los estadios larvarios planctónicos y sésiles, y se analizó la relación de cada uno de los estadios poblacionales con las variables ambientales de los embalses. Los resultados permitieron establecer que las poblaciones de los embalses de Mequinenza y Ribarroja no se encuentran sincronizadas entre sí. La densidad de larvas en los embalses fue mayor en el embalse de Mequinenza, seguido del de Ribarroja y por último de Flix.
La mayor parte de los estudios realizados sobre el mejillón cebra se centran en sistemas lénticos, como lagos o embalses. Sin embargo, las preferencias de hábitat de la especie en sistemas lóticos son poco conocidas. Por ello también se evaluó la relación existente entre las variables ambientales y las poblacionales en el tramo fluvial del bajo Ebro desde la presa de Flix hasta el comienzo de la cuña salina. Los trabajos realizados pusieron de manifiesto que el tramo fluvial estudiado se ve fuertemente afectado por la presencia aguas arriba del sistema de embalses.
Además, se calculó la tasa de filtración de la especie en este tramo del río por ser un parámetro de importancia tanto para la regulación de las poblaciones como por el efecto que pueden tener sobre la ecología de las masas de agua. Por último se realizó un modelo de dinámica poblacional capaz de simular la densidad de la especie a lo largo del tiempo. Dicho modelo se desarrolló con datos bibliográficos y con datos generados durante los trabajos realizados en la presente tesis. La construcción del modelo permitió determinar que la dinámica poblacional interanual del mejillón cebra en los embalses del bajo Ebro se ajusta a un modelo de carácter cíclico y denso-dependiente.The zebra mussel, Dreissena polymorpha (Pallas, 1771), is known to be one of the worst freshwater invasive species worldwide. This successful invasive bivalve is native to the Ponto-Caspian region and has been introduced throughout Europe and North America. It was first discovered in the Iberian Peninsula in the lower Ebro River in 2001. Since its invasion the zebra mussel has spread throughout most of the Ebro river basin and other catchments of the Iberian Peninsula. The high ecological and economical impacts caused by the zebra mussel have promoted the study of this specie. In the case of the Ebro river basin studies are still scarce. The present PhD thesis focuses on the study of zebra mussel populations established in the lower Ebro River, between the Mequinenza reservoir (Zaragoza) and the beginning of the estuarine area (Tarragona). Throughout the present study information on the structure, distribution patterns and population dynamics of the zebra mussel present in the Mequinenza, Ribarroja and Flix reservoirs, was obtained for a full year. Planktonic and sessile larval stages were studied, and their relationship with reservoirs’ environmental variables were analyzed. Most studies on the zebra mussel are focused on lentic systems, such as reservoirs or lakes, where populations reach higher densities. However, the habitat preferences of this species in lotic systems are poorly known. Therefore, in this PhD thesis the relationship between environmental and water physicochemical parameters and the abundance and distribution of the zebra mussel in the lower Ebro River, from the Flix reservoir to the limit of the salt wedge was assessed. Moreover, the filtration rate of the zebra mussel inhabiting this river stretch was calculated. This parameter was determined because of its importance in both the zebra mussel populations’ auto regulation and the potential effects on colonized water bodies. Finally, a population dynamics model to simulate the zebra mussel abundance over time was developed. The construction of this model was performed with both bibliographic information and own data generated in the present PhD thesis.
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Reis, Samara Marques dos. "Correlação estatística entre os dados de freqüências genéticas e dados de prevalência de doença podem complementar os estudos de caso-controle para identificar loci susceptibilidade em estudos de associação genética." Universidade Federal do Pampa, 2015. http://dspace.unipampa.edu.br:8080/xmlui/handle/riu/280.
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Estudos de associação gene-doença mostraram uma relação entre TPH2 e a depressão em diferentes populações, estudos, no entanto, têm sido produzidos resultados contraditórios, sendo a Triptofano hidroxilase-2 (TPH2) uma enzima limitante da taxa na via sintética para a serotonina do cérebro, vários estudos relatam os polimorfismos da enzima TPH2. Dois grandes projetos, o HapMap e o 1000 genomas, organizaram a maioria dos polimorfismos a partir do estudo de várias populações disponibilizando estes dados. Este trabalho tem como objetivo desenvolver um método de estudo para obtenção de possíveis marcadores de predisposição a doença a partir da correlação entre os dados epidemiológicos e frequências populacionais de polimorfismos, baseado na hipótese de que se numa população existe maior frequência de uma determinada patologia determinada geneticamente, então as variantes envolvidas deveriam estar em maior frequência e vice-versa. O modelo usado foi o envolvimento de variantes do gene TPH2 na predisposição à depressão. Os dados obtidos com correlação positiva em um dos genótipos homozigotos e também no alelo deste homozigoto sugeriram a presença de 10 polimorfismos (14,49% do total) possivelmente envolvidos no desenvolvimento do processo depressivo. Estes dados foram comparados com dados da literatura envolvendo estudos do tipo caso controle. Nestes trabalhos foram estudados 20 dos 69 polimorfismos descritos para o gene TPH2. Com exceção de um único polimorfismo, todos os dados obtidos com a nossa estratégia apresentaram-se iguais aos dados da literatura, inclusive quanto ao alelo que determinaria predisposição à depressão quando demonstrada associação. Portanto, propomos esta estratégia como uma forma alternativa de se realizar estudos do tipo Genome-Wide Association sem a necessidade de estudos caso-controle, apenas usando dados epidemiológicos da doença, diminuindo o tempo e custo destes estudos.
Disease-gene association studies reported a relation between the TPH2 and depression in different populations, however some studies have produced contradictory results, being the tryptophan hydroxylase-2 (TPH2) a limiting enzyme in the rate of synthetic route of serotonin in the brain, many studies reported the polymorphisms of the TPH2 enzyme. Two big projects, HapMap and 1000 genomes, organized the major part of these polymorphisms from the study of several populations becoming these data available. This work is aimed to develop a system to obtain possible predisposition markers of a disease from the correlation between epidemiological data and population frequencies of polymorphism, based in the hypothesis that if in a population there is more frequency of a certain kind of pathology genetically determined, the variables involved should be more frequent and vice-versa. The model used was the involvement of variables of the TPH2 gene in the predisposition of depression. The data obtained with positive correlation in one of homozygous genotypes and in the allele of this homozygous suggested the presence of 10 polymorphisms (total 14,49%) possibly related to the development of depression. These data were compared to literature data involving case control studies. In these work were studied 20 from 69 polymorphisms described to the TPH2 gene. With the exception of only one polymorphism, all the data obtained through the strategy proposed in this work have been equals to the literature data, including the allele that is determinant to the predisposition of depression when it is demonstrated the association. Therefore, it is proposed this strategy as an alternative to realize this kind of Genome-Wide Association studies without the necessity of a case control study, only using the epidemiological data from the disease, decreasing the time and the cost of this study.
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Rodrigues, Danitsa Marcos. "Efeito do polimorfismo A3669G do gene do receptor de glicocorticoide sobre o controle metabólico, comportamento alimentar e neuroimagem funcional em uma amostra de adolescentes." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2015. http://hdl.handle.net/10183/139572.
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Introdução: Os glicocorticoides (GCs) estão envolvidos na regulação e adaptação da resposta ao estresse, exercendo seus efeitos através de seus receptores. Variações polimórficas no gene do receptor de glicocorticoide (GR) têm sido caracterizadas funcionalmente. O polimorfismo A3669G do gene do GR está relacionado a modificações na sensibilidade aos GCs e mudanças no perfil metabólico. Concentrações fisiológicas de GCs estimulam a ingestão calórica e, na presença de insulina, modificam a preferência alimentar. A variante A3669G do gene do GR parece levar a um menor risco para diabetes, em pacientes com Síndrome de Cushing, e para o tabagismo, quando associado a um polimorfismo do gene do receptor de mineralocorticoide, sugerindo uma modulação na via de recompensa. O objetivo deste trabalho é avaliar a associação de variantes do polimorfismo A3669G do gene do GR com o comportamento alimentar e parâmetros metabólicos em uma amostra de estudantes, correlacionando com dados de neuroimagem funcional. Métodos: A amostra provém de alunos de 6 escolas de Porto Alegre, avaliados em 2008 e em 2013. Em 2008, 131 indivíduos apresentavam o protocolo completo de avaliação e, destes, 74 retornaram em 2013. A avaliação incluiu genotipagem, antropometria, exames laboratoriais, comportamento alimentar e um paradigma avaliando a ativação cerebral em resposta a visualização de imagens de alimentos palatáveis, não palatáveis e de objetos neutros. A análise da associação com os fenótipos foi realizada através do teste t de Student e Chi quadrado; os dados do estudo longitudinal foram analisados por meio de Equações de Estimatição Generalizada. Resultados: A variante G do polimorfismo A3669G do gene do GR foi encontrado em 17,6% em 2008 e em 14,9% da amostra em 2013. Não houve diferença entre os grupos de carreadores do alelo G e não carreadores quanto a diferentes confundidores; a comparação entre as médias dos dois grupos sobre o consumo calórico proveniente de proteínas, carboidratos e gorduras em 2008 não revelou diferenças significativas; nesta etapa, as análises evidenciaram maior consumo de açúcares e de calorias totais no grupo não carreador do alelo G. Em 2013, estes indivíduos não carreadores do alelo G do polimorfismo A3669G apresentaram maior insulinemia e além de aumento no índice de resistência à insulina, sem diferenças no consumo alimentar. Os dados de neuroimagem funcional indicaram que a visualização de imagens de alimentos palatáveis pelo grupo não carreador do alelo G ativou o giro occipital médio, uma região implicada no processamento visual, mostrando menor ativação em giro pré central e nas áreas de Brodmann 4 e 6, relacionadas ao planejamento motor e sensibilidade ao sabor. Conclusão: Os resultados mostram que os indivíduos não carreadores da variante G do polimorfismo A3669G do gene do GR apresentaram menor sensibilidade à insulina, precedidos pela modulação na preferência alimentar. Os achados em neuroimagem funcional indicam maior saliência de incentivo aos alimentos palatáveis e predisposição à impulsividade no grupo não carreador do alelo G. Sugere-se que a redução na sensibilidade em nível celular aos GCs relacionada à presença do alelo G, afete a ingestão alimentar, reduzindo o consumo de alimentos palatáveis, diminuindo o risco para doenças metabólicas.Introduction: Glucocorticoids are involved in regulation and adaptation of the stress response, exerting effects through its receptors. Variations on the glucocorticoid receptors genes have been characterized functionally. The A3669G polymorphism of the glucocorticoid receptor gene is related to a change in the tissue sensitivity to glucocorticoids and altered metabolic profile. Physiological concentrations of glucocorticoids stimulate food intake and in the presence of insulin affect food preferences. The G variant of the A3669G polymorphism appears to lead to a lower risk for diabetes, in patients with Cushing's syndrome, and smoking, when associated with a polymorphism of the mineralocorticoid receptor gene, suggesting a modulation in reward pathways. The objective of this study is to evaluate the association of A3669G polymorphism variants with feeding behavior and metabolic parameters in a sample of students correlating with functional neuroimaging data. Methods: The sample includes students of 6 schools in Porto Alegre, evaluated at two occasions 2008 and in 2013. In 2008, 131 individuals had complete protocol assessment and, from these, 74 returned in for re- evaluation in 2013. The evaluation included genotyping, anthropometry, laboratory tests, feeding behavior and a functional MRI paradigm to verify brain activation in response to the visualization of palatable, non- palatable foods and neutral items. The association with phenotypes was performed using Student's t test and Chi-square; longitudinal study data were evaluated using Generalized Estimating Equations. Results: The variant of the A3669G polymorphism was found in 17.6% of the students in 2008 and 14.9% of the sample in 2013. There was no difference between groups in the sample composition; the comparison between groups of the mean caloric intake originating from proteins, carbohydrates and fats in 2008 revealed no significant differences; at this time, analysis showed lower consumption of sugars and total calories in the G carrier group. In 2013, these individuals showed a reduction in insulin level and resistance, with no differences in food intake. The fMRI data indicated that viewing a food palatable image by the wild-type allele carrier group activated a region involved in visual processing (middle occipital gyrus) and deactivated an area related to motor planning and sensitivity to taste (pre central gyrus). Conclusion: The results showed that G carriers of the A3669G polymorphism of glucocorticoid receptor gene had lower insulin resistance levels, preceded by modulation of their food preference. The findings in functional neuroimaging showed increased incentive salience on viewing palatable food images and a predisposition for impulsivity in noncarriers. Data suggest that reduction in glucocorticoids sensitivity at a cellular level affects food intake, by reducing consumption of palatable foods, possibly decreasing the risk for metabolic diseases.
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Couldrick, Jonathan Stuart Aerospace Civil & Mechanical Engineering Australian Defence Force Academy UNSW. "A study of swept and unswept normal shock wave/turbulent boundary layer interaction and control by piezoelectric flap actuation." Awarded by:University of New South Wales - Australian Defence Force Academy. School of Aerospace, Civil and Mechanical Engineering, 2006. http://handle.unsw.edu.au/1959.4/38672.
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The interaction of a shock wave with a boundary layer is a classic viscous/inviscid interaction problem that occurs over a wide range of high speed aerodynamic flows. For example, on transonic wings, in supersonic air intakes, in propelling nozzles at offdesign conditions and on deflected controls at supersonic/transonic speeds, to name a few. The transonic interaction takes place at Mach numbers typically between 1.1 and 1.5. On an aerofoil, its existence can cause problems that range from a mild increase in section drag to flow separation and buffeting. In the absence of separation the drag increase is predominantly due to wave drag, caused by a rise in entropy through the interaction. The control of the turbulent interaction as applied to a transonic aerofoil is addressed in this thesis. However, the work can equally be applied to the control of interaction for numerous other occurrences where a shock meets a turbulent boundary layer. It is assumed that, for both swept normal shock and unswept normal shock interactions, as long as the Mach number normal to the shock is the same, then the interaction, and therefore its control, should be the same. Numerous schemes have been suggested to control such interaction. However, they have generally been marred by the drag reduction obtained being negated by the additional drag due to the power requirements, for example the pumping power in the case of mass transfer and the drag of the devices in the case of vortex generators. A system of piezoelectrically controlled flaps is presented for the control of the interaction. The flaps would aeroelastically deflect due to the pressure difference created by the pressure rise across the shock and by piezoelectrically induced strains. The amount of deflection, and hence the mass flow through the plenum chamber, would control the interaction. It is proposed that the flaps will delay separation of the boundary layer whilst reducing wave drag and overcome the disadvantages of previous control methods. Active control can be utilised to optimise the effects of the boundary layer shock wave interaction as it would allow the ability to control the position of the control region around the original shock position, mass transfer rate and distribution. A number of design options were considered for the integration of the piezoelectric ceramic into the flap structure. These included the use of unimorphs, bimorphs and polymorphs, with the latter capable of being directly employed as the flap. Unimorphs, with an aluminium substrate, produce less deflection than bimorphs and multimorphs. However, they can withstand and overcome the pressure loads associated with SBLI control. For the current experiments, it was found that near optimal control of the swept and unswept shock wave boundary layer interactions was attained with flap deflections between 1mm and 3mm. However, to obtain the deflection required for optimal performance in a full scale situation, a more powerful piezoelectric actuator material is required than currently available. A theoretical model is developed to predict the effect of unimorph flap deflection on the displacement thickness growth angles, the leading shock angle and the triple point height. It is shown that optimal deflection for SBLI control is a trade-off between reducing the total pressure losses, which is implied with increasing the triple point height, and minimising the frictional losses.
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Clarimón, Echavarria Jordi. "Factors genètics de risc en la malaltia d'Alzheimer." Doctoral thesis, Universitat Pompeu Fabra, 2003. http://hdl.handle.net/10803/7068.
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En la present tesi doctoral es va establir i calcular els factors genètics de risc per a la forma tardana de la malaltia d'Alzheimer (MA). Foren analitzats un total de 15 variants gèniques (polimorfismes) ubicats en alguns dels gens candidats que codifiquen per a proteïnes involucrades en la fisiopatologia de la MA. Les freqüències gèniques i genotípiques de tots els polimorfismes, així com les freqüències haplotípiques d'aquelles variants que estaven en desequilibri de lligament, foren comparades entre una població de 136 individus amb diagnòstic clínic de MA i una població de 91 individus sense deteriorament cognitiu (tots amb edats superiors als 65 anys i sense cap relació de parentesc).Es va trobar una associació estadísticament significativa entre l'al·lel e4 del gen APOE i la MA (OR ajustada per sexe i edat de 7.8), així com una altre associació positiva entre el polimofisme *159C/T del gen Neprilysin i la MA (OR del subgrup menor de 75 anys i homozigots CC = 2.87). Finalment, es va trobar una sobre representació significativa del genotip GG, situat en l'exó 5 del gen BACE1, en els pacients d'Alzheimer (OR = 2.14 ). També es va obtenir una associació significativa entre el polimorfisme analitzat en el gen HSP70-2 i la presència de simptomatologia no cognitiva en els pacients que havien estat avaluats amb test neuropsiquiàtric (NPI).
Tots aquests estudis confirmen la base genètica de la forma tardana de la MA i demostren la importància de l'epidemiologia genètica i dels estudis de tipus cas-control en aquelles malalties complexes com la MA.
En la presente tesis doctoral se establecieron y calcularon los factores genéticos de riesgo para la forma tardía de la enfermedad de Alzheimer (EA). Para ello se analizaron un total de 15 variantes génicas (polimorfismos) que se encuentran en algunos de los genes candidatos que codifican proteínas involucradas en la fisiopatología de la EA. Las frecuencias génicas y genotípicas de todos los polimorfismos, así como las frecuencias haplotípicas de aquellos polimorfismos que se encontraron en desequilibrio de ligamiento, fueron comparadas entre una población de 136 individuos con diagnóstico clínico de EA y una población de 91 individuos sin deterioro cognitivo (todos con edades superiores a los 65 años y sin relación de parentesco).
Se halló una asociación estadísticamente significativa entre el alelo e4 del gen APOE y la EA (OR ajustada por sexo y edad de 7.8), así como otra asociación positiva entre el polimofismo *159C/T del gen Neprilysin y la EA (OR del subgrupo menor de 75 años y homocigotos CC = 2.87). Finalmente, se encontró una sobre representación significativa del genotipo GG, situado en el exón 5 del gen BACE1, en los pacientes de Alzheimer (OR = 2.14 ). También se obtuvo una asociación significativa entre el polimorfismo analizado en el gen HSP70-2 y la presencia de sintomatología no cognitiva en los pacientes que habían sido evaluados con test neuropsiquiátrico (NPI).
Todos estos estudios confirman la base genética de la forma tardía de la EA y demuestran la importancia de la epidemiología genética y de los estudios de tipo caso-control en aquellas enfermedades complejas como la EA.
In the present thesis, genetic risk factors for late onset Alzheimer's disease (AD) have been evaluated. A total of 15 polymorphisms located in several candidate genes involved in AD pathophysiology were analysed in a sample set comprising 136 AD patients and 91 non-demented elderly control individuals. A statistically significant association was found between the e4 allele of the APOE gene and AD (age- and sex-adjusted OR = 7.8). An association was also found between the *159C/T polymorphism located at the Nerprilysin gene (the OR for those individuals younger than 75 years old and homozygous for the C allele was 2.87). Finally, an over representation of the GG genotype of the BACE1 exon 5 was found in AD patients compared to controls (OR = 2.14). An elevated propensity to develop non-cognitive alterations in AD patients was found to be associated with the A2 allele of the HSP70-2 gene.
All of these results confirm the genetic susceptibility to AD and clearly demonstrate the usefulness of genetic epidemiology tools as well as the case-control approaches in identifying genes related to complex disorders such as AD.
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Aguiar, Pamella Kelly Farias de. "Análise da influência do polimorfismo rs1801133 (677c>t) no gene mthfr em fissuras labiais com ou sem fissura palatina não sindrômicas: estudo de base familiar e populacional pareado por ancestralidade no Brasil." Universidade Federal da Paraíba, 2014. http://tede.biblioteca.ufpb.br:8080/handle/tede/3658.
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The MTHFR 677C>T variant (rs1801133) has been analysed as a putative genetic risk factor for oral clefts within various populations worldwide. To test the role of the MTHFR 677C>T variant in nonsyndromic cleft lip with or without cleft palate (NSCL/P) predisposition in the Brazilian population, we conducted a study combining a family-based association test (transmission disequilibrium test-TDT) and a structured association analysis (case-control study) based on the individual ancestry proportions. The rs1801133 polimorphism was genotyped in 197 trios with NSCL/P, 318 isolated samples of NSCL/P and 598 healthy controls using the TaqMan 5′- exonuclease allelic discrimination assay. Genomic ancestry was characterized by a set of 40 biallelic short insertion/deletion markers. TDT revealed a strong association of rs1801133 polymorphism with case-parent trios of NSCL/P (p=0.002) and non-syndromic cleft lip and palate (NSCLP, p=0.001), but not with non-syndromic cleft lip (NSCL). Analyses of parent-oforigin effects demonstrated modest excess transmission of the risk allele from mothers of NSCLP (OR: 1.47, 95% CI: 1.10-2.14, p=0.04). The structured case-control analysis supported these findings, revealing that the risk T allele was significantly more frequent in NSCL/P group (OR: 1.37, 95% CI: 1.12-1.69, p=0.002) and NSCLP (OR: 1.41, 95% CI: 1.12-1.79, p=0.01) than the control group. Our findings provide evidence for the involvement of rs1801133 in the development of NSCL/P in the Brazilian population, and reinforce the importance of genetic screening in populations at risk in order to optimize the implementation of preventive strategies.
Entre os prováveis fatores de risco genético para as fissuras orais, está o polimorfismo rs1801133 do gene MTHFR (677C>T). O papel desse polimorfismo com relação à predisposição para fissuras não-sindrômicas do lábio com ou sem o envolvimento do palato (FL/P) foi analisado na população Brasileira. Utilizou-se duas abordagens, um teste de associação de base familiar (teste de desequilíbrio de transmissão TDT) e um estudo casocontrole baseado nas proporções individuais de ancestralidade. Na análise TDT o polimorfismo rs1801133 foi genotipado em 197 trios (o afetado e seus respectivos pais). No estudo casocontrole foram incluídos 318 indivíduos fissurados e 598 controles não portadores de fissuras ou qualquer outra anomalia. Realizou-se ensaio de discriminação alélica TaqMan 5′- exonuclease. A ancestralidade genômica foi caracterizada por um conjunto de 40 marcadores bialélicos de curta inserção / deleção. O TDT revelou uma forte associação entre o polimorfismo rs1801133 nos trios de portadores de FL/P (p=0,002) como também nos trios de fissuras labiopalatinas (FLP, p=0,001), mas não apresentou associação com fissuras labiais isoladas (FL). A análise da origem parental do alelo T mostrou excesso de transmissão, por parte das mães, nos trios de portadores de FLP (OR: 1.47, 95%CI: 1.10-2.14, p=0,04). O estudo caso-controle corroborou com os resultados obtidos no TDT, demonstrando que o alelo polimórfico 677T foi significantemente mais frequente no grupo de portadores de FL/P (OR: 1.37, 95% CI: 1.12-1.69, p=0,002) e de FLP (OR: 1.41, 95% CI 1.12-1.79, p=0,01) quando comparada ao grupo controle. Em conclusão, o presente estudo sugere correlação entre o polimorfismo rs1801133 e o desenvolvimento de FL/P na população brasileira, e reforça a importância da triagem genética nas famílias dos afetados para otimizar a aplicação de medidas preventivas.
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Khuseyinova, Natalie. "Association between plasma levels of the soluble CD14 receptor of lipopolysaccharide and the C(-260)T polymorphism in the promoter of the CD14 gene and coronary artery disease: investigations in a large case-control study." Ulm : Universität Ulm, Medizinische Fakultät, 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB9967025.
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Halilovic, Amina. "SÄKERSTÄLLNING AV SÄLLSYNTA DNA-KONTROLLER MED HELGENOMAMPLIFIERING I KLINISKT SYFTE." Thesis, Malmö högskola, Fakulteten för hälsa och samhälle (HS), 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:mau:diva-24387.
Full textAbstract:
Vid klinisk enbaspolymorfi (SNP) analys inkluderas DNA-kontroller med kända genotyper i varje analysomgång för att säkerställa riktigheten vad gäller analysresultatet. DNA-kontrollerna har en central roll för resultatens trovärdighet vid genotypningen. Vissa kontrollprover som används är av sällsynt genotyp och kan vara mycket svåra att få tag på. Detta arbete har utförts för att undersöka om det går att erhålla DNA-material från sällsynta genotyper med hjälp av helgenomamplifiering och på så sätt säkerställa en tillgång till dessa. I arbetet testades helgenomamplifiering med hjälp av två olika kit. De helgenomamplifierade produkternas kvantitet och kvalitet analyserades och jämfördes med det ursprungliga DNA:t, med avsikt att redogöra för det mest fördelaktiga kitet för SNP-analys i kliniskt syfte. Båda helgenomamplifierings-kiten påvisade god förmåga att amplifiera genomiskt DNA med hög kvalité. Helgenomamplifierat DNA från det bästa kitet sekvenserades och här var skillnader mellan ursprungligt och helgenomamplifierat DNA marginella. Vid sekvensanalys av ett 464 baspar långt fragment av faktor II genen och 585 baspar långt fragment av ApoE genen på fem helgenomamplifierade DNA-prover påvisades endast en eventuell diskrepans.Clinical single nucleotide polymorphisms (SNP) analysis includes DNA controls with known genotypes in each run to ensure the accuracy of the analysis results. DNA controls have a central role for the credibility of the results in the genotyping process. Some of the used control samples are rare and can be very difficult to obtain. This work was carried out to investigate whether it is possible to obtain DNA from samples with a rare genotype using whole genome amplification and as a result ensure access to these samples. In this work the whole genome amplification method was tested by two different kits. The quantity and quality of the whole genome amplification products were analyzed and compared with the original DNA, with the intention to describe the most advantageous kit for clinical SNP analysis. Both tested kits demonstrated a good ability to amplify genomic DNA with high quality. Whole genome amplified DNA from the best kit was sequenced and the difference between the original DNA and whole genome amplified DNA was negligible. Sequence analysis of 464 base pairs of the factor II gene and 585 base pairs of the ApoE gene in five whole genome amplified DNA samples indicated only one possible discrepancy.