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Towler, Christopher. "Nucleation in polymorphic systems." Thesis, University of Manchester, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.520283.
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Mathieson, John T. J. "Towards Polymorphic Systems Engineering." Thesis, The George Washington University, 2021. http://pqdtopen.proquest.com/#viewpdf?dispub=28257912.
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Systems engineering is widely regarded as a full life cycle discipline and provides methodologies and processes to support the design, development, verification, sustainment, and disposal of systems. While this cradle-to-grave concept is well documented throughout literature, there has been recent and ever-increasing emphasis on evolving and digitally transforming systems engineering methodologies, practices, and tools to a model-based discipline, not only for advancing system development, but perhaps more importantly for extending agility and adaptability through the later stages of system life cycles – through system operations and sustainment. This research adopts principles from the software engineering domain DevOps concept (a collaborative merger of system development and system operations) into a Systems Engineering DevOps Lemniscate life cycle model. This progression on traditional life cycle models lays a foundation for the continuum of model-based systems engineering artifacts during the life of a system and promotes the coexistence and symbiosis of variants throughout. This is done by facilitating a merger of model-based systems engineering processes, tools, and products into a surrogate and common modeling environment in which the operations and sustainment of a system is tied closely to the curation of a descriptive system model. This model-based approach using descriptive system models, traditionally leveraged for system development, is now expanded to include the operational support elements necessary to operate and sustain the system (i.e. executable procedures, command scripts, maintenance manuals, etc. modeled as part of the core system). This evolution on traditional systems engineering implementation, focused on digitally transforming and enhancing system operations and sustainment, capitalizes on the ability of model-based systems engineering to embrace change to improve agility in the later life cycle stages and emphasizes the existence of polymorphic systems engineering (performing a variety of systems engineering roles in simultaneously occurring life cycle stages to increase system agility). A model-based framework for applying the Systems Engineering DevOps life cycle model is introduced as a new Systems Modeling Language profile. A use-case leveraging this “Model-Based System Operations” framework demonstrates how merging operational support elements into a spacecraft system model improves adaptability of support elements in response to faults, failures, and evolving environments during system operations, exemplifying elements of a DevOps approach to cyber-physical system sustainment.
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Lopes, Joao Antonio Correia. "An architecture for the compilation of persistent polymorphic reflective higher-order languages." Thesis, University of Glasgow, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360127.
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Petrucciani, Tommaso. "Polymorphic set-theoretic types for functional languages." Thesis, Sorbonne Paris Cité, 2019. http://www.theses.fr/2019USPCC067.
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Cette thèse porte sur l'étude des types ensemblistes : des types qui contiennent des connecteurs d'union, d'intersection et de négation. Les types ensemblistes permettent de typer de manière très précise plusieurs constructions des langages de programmation (comme par exemple les branches conditionnelles, le filtrage par motif et la surcharge des fonctions) lorsqu'ils sont utilisés avec une notion appropriée de sous-typage. Pour définir celle-ci, nous utilisons l'approche du sous-typage sémantique, dans laquelle les types sont interprétés comme des ensembles, et où le sous-typage est défini comme l'inclusion ensembliste. Dans la plupart de cette thèse, les types ensemblistes sont polymorphes, dans le sens où ils contiennent des variables de type pour permettre le polymorphisme paramétrique.La thèse étend les travaux précédents sur les types ensemblistes et le sous-typage sémantique en montrant comment les adapter à de nouveaux contextes et comment les utiliser pour typer plusieurs aspects des langages fonctionnels. Elle se compose de trois parties.La première partie porte sur une étude des langages typés de manière implicite avec polymorphisme du "let" et inférence de types (contrairement aux travaux précédents sur le sous-typage sémantique qui étudiaient des langages typés explicitement). Nous y décrivons un lambda-calcul typé implicitement avec un système de types dont nous démontrons la correction. De même, nous y étudions l'inférence de types dont nous démontrons la correction et la complétude. Enfin, nous montrons comment rendre l'inférence plus précise quand les programmes sont partiellement annotés avec des types.La deuxième partie décrit une nouvelle approche permettant d'étendre un système de types statique avec du typage graduel; l'originalité venant du fait que nous décrivons le système de types de façon déclarative, lorsque les systèmes existants proposent des descriptions algorithmiques. Nous illustrons cette approche en ajoutant le typage graduel à un système de types à la Hindley-Milner sans sous-typage. Nous décrivons pour cela un système de types déclaratif, un processus de compilation vers un langage avec vérifications de type dynamiques (ou "casts"), et nous présentons un système d'inférence de types correct et complet. Ensuite, nous y ajoutons les types ensemblistes, en définissant une relation de sous-typage sur les types graduel ensemblistes, puis en présentant un système d'inférence de types correct pour le système étendu.La troisième partie porte sur l'étude des sémantiques non-strictes. Les systèmes existants qui utilisent le sous-typage sémantique ont été développés pour des langages avec appel par valeur et ne sont pas sûrs pour des sémantiques non-strictes. Nous montrons ici comment les adapter pour garantir leur sûreté en appel par nécessité. Pour faire ça, nous introduisons dans les types une représentation explicite de la divergence, afin que le système des types puisse distinguer les expressions qui ne demandent pas d'évaluation de celles qui la demandent et pourraient ainsi divergerWe study set-theoretic types: types that include union, intersection, and negation connectives. Set-theoretic types, coupled with a suitable subtyping relation, are useful to type several programming language constructs – including conditional branching, pattern matching, and function overloading – very precisely. We define subtyping following the semantic subtyping approach, which interprets types as sets and defines subtyping as set inclusion. Our set-theoretic types are polymorphic, that is, they contain type variables to allow parametric polymorphism.We extend previous work on set-theoretic types and semantic subtyping by showing how to adapt them to new settings and apply them to type various features of functional languages. More precisely, we integrate semantic subtyping with three important language features.In Part I we study implicitly typed languages with let-polymorphism and type inference (previous work on semantic subtyping focused on explicitly typed languages). We describe an implicitly typed lambda-calculus and a declarative type system for which we prove soundness. We study type inference and prove results of soundness and completeness. Then, we show how to make type inference more precise when programs are partially annotated with types.In Part II we study gradual typing. We describe a new approach to add gradual typing to a static type system; the novelty is that we give a declarative presentation of the type system, while previous work considered algorithmic presentations. We first illustrate the approach on a Hindley-Milner type system without subtyping. We describe declarative typing, compilation to a cast language, and sound and complete type inference. Then, we add set-theoretic types, defining a subtyping relation on set-theoretic gradual types, and we describe sound type inference for the extended system.In Part III we consider non-strict semantics. The existing semantic subtyping systems are designed for call-by-value languages and are unsound for non-strict semantics. We adapt them to obtain soundness for call-by-need. To do so, we introduce an explicit representation for divergence in the types, allowing the type system to distinguish the expressions that are already evaluated from those that are computations which might diverge
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Sattler, Christian. "On the complexities of polymorphic stream equation systems, isomorphism of finitary inductive types, and higher homotopies in univalent universes." Thesis, University of Nottingham, 2015. http://eprints.nottingham.ac.uk/28111/.
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This thesis is composed of three separate parts. The first part deals with definability and productivity issues of equational systems defining polymorphic stream functions. The main result consists of showing such systems composed of only unary stream functions complete with respect to specifying computable unary polymorphic stream functions. The second part deals with syntactic and semantic notions of isomorphism of finitary inductive types and associated decidability issues. We show isomorphism of so-called guarded types decidable in the set and syntactic model, verifying that the answers coincide. The third part deals with homotopy levels of hierarchical univalent universes in homotopy type theory, showing that the n-th universe of n-types has truncation level strictly n+1.
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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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Hogan, J. L. "The polymorphism of headgroup methylated phosphatidylethanolamines." Thesis, University of Southampton, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.235235.
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Connor, R. C. H. "Types and polymorphism in persistent programming systems." Thesis, University of St Andrews, 1991. http://hdl.handle.net/10023/13487.
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Fonseca, Gutierrez Maria del Carmen. "Genetic polymorphism in systemic sclerosis." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409294.
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Johansson, Börje. "An implementation of Milner's CCS with a polymorphic type system." Licentiate thesis, Luleå tekniska universitet, EISLAB, 1996. http://urn.kb.se/resolve?urn=urn:nbn:se:ltu:diva-18530.
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Novitzky, Basso Igor Nicolas. "The functional significance of the Duffy negative polymorphism." Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/5675/.
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I investigated the impact of DARC expression on haematopoiesis using DARC-deficient (DD) mice and developed humanised transgenic DARC models expressing the \(FYB(ES)\) and \(FYB\) human genes. I developed murine irradiation chimeras with differential DARC expression and showed that the absence of erythroid DARC but continued DARC endothelial expression was associated with reduced peripheral blood neutrophil counts. FYB(ES)TG mice showed reduced peripheral neutrophil counts and expansion of BM myelopoiesis, and reduced lymphopoiesis and erythropoiesis, compared to FYBTG mice. FYB(ES)TG and DD mice had reduced GMP cells and LSK cells, and proliferation and apoptosis of these cells were reduced. Microarray analysis of differentially expressed genes showed increased myeloid gene expression in GMP and LSK cells. Mixed irradiation chimeras showed that DD BM retained these changes, suggesting an intrinsic cell effect. Analysis of BM and serum showed a significant increase in G-CSF and eotaxin. Morphological analysis of myeloid cells in femur sections revealed increased myeloid cell clustering in DD and FYB(ES)TG mice. These data suggest that neutrophils are preferentially retained in the DD BM, possibly as a result of loss of optimal chemokine gradients created by erythroblast DARC which may favour neutrophil egress and thereby leading to peripheral neutropenia.
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Luk, Chee-wei Jennifer. "Solubility and Pseudo-polymorphic Transitions of L-Serine in Water-Methanol System." Thesis, Georgia Institute of Technology, 2005. http://hdl.handle.net/1853/6832.
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The research addressed in this thesis is focused on the solubility and pseudo-polymorphic transition of L-serine in mixed water-methanol systems. Cooling re-crystallizations were carried out that varied both temperature and methanol concentration. Solubilities were measured with high-performance liquid chromatography. It is found that the solubility increased with increase in temperature and decreased drastically with methanol concentration. The effect of temperature at which there is a transition of L-serine crystals from the rod-shaped (anhydrous) form to hexagonal (monohydrate) form was confirmed and that transition temperatures decreased with methanol concentrations in a non-linear manner. The solubility data were correlated and plotted using the vant Hoff equation and the enthalpy and entropy of dissolution were determined. These values increased with increase in methanol concentration. The solid crystals were analyzed by optical microscopy and powder X-ray diffraction. The rod-shaped crystals were identified to be anhydrous L-serine, while the hexagonal crystals were L-serine monohydrate. Dehydration of the monohydrated crystals in their solid-state was examined and the onset of such phenomenon was known to start once the crystals were removed from the solutions.
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Halldén, Christer. "Characterization and use of a multiplex PCR-based system random amplified polymorphic DNA /." Lund : Lund University, 1998. http://catalog.hathitrust.org/api/volumes/oclc/68945134.html.
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Hao, Xiang. "STUDIES OF UNUSUAL PACKING AND OF POLYMORPHISM IN TWO CRYSTAL SYSTEMS." UKnowledge, 2005. http://uknowledge.uky.edu/gradschool_diss/285.
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Crystal structures of anhydrous pinacol, the hexagonal pinacol, pinacol monohydrate, and pinacol hexahydrate were studied. In all the structures crystal packing is unusual and complicated. The origin of the complexity may be the difficulty in filling space densely and while also satisfying the H-bonding requirements when the molecule has few internal degrees of freedom.
Five 15-crown-5 complexes of M(NO3)2 (M = Cu, Zn, Mg, Co, Mn) were synthesized and characterized using X-ray diffraction and differential scanning calorimetry. The system is rich in polymorphs. Nine definite solid-state phases were identified. More phases probably exist in the solid state at temperatures slightly above the room temperature. Most phase transformations in this system take place in single crystals without the loss of crystallinity. The nine phases crystallize in five crystal structures. The crown ether ligands have very similar conformation in all the structures. The asymmetric units in all the structures are complicated and pseudosymmetric, which is the consequence of the presence of the packing problem. The origin of the packing problem that leads to the complicated phase behavior is the odd number of -CH2-O-CH2- units in the crown ether ligand.
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Huang, Ming Hua. "Extreme Worker Polymorphism in the Big-headed Pheidole Ants." Diss., The University of Arizona, 2012. http://hdl.handle.net/10150/247257.
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Polymorphism is the existence of multiple phenotypes within a given species in a population. In social insects, worker polymorphism plays a key role in maximizing the effectiveness of the division of labor. Some ants have an extreme form of worker polymorphism where workers have a broad size range and multiple size modes. Pheidole ants, for example, consist of both highly polymorphic species as well as those with relatively low polymorphism. Here, we examined why different Pheidole species have different degrees of polymorphism and how polymorphism is produced. We thoroughly characterized the worker caste systems of P. spadonia, P. rhea, P. obtusospinosa, and P. tepicana. There were significant differences among the four species in size range, number of size modes, caste ratios, allometry, and caste biomass allocation. An examination of worker caste traits of P. spadonia, P. rhea, and P. obtusospinosa revealed that as head size increased for all three species: (1) mandibles became broader and less serrated, (2) head muscle volume increased, and (3) bite force increased. These traits of large supersoldiers are likely adapted for crushing while those of small minors are likely for cutting. Foraging experiments showed that P. spadonia, P. rhea, and P. obtusospinosa used their workforce in different ways for food processing outside the nest. For P. rhea, the frequency of supersoldiers involved in food processing increased as the processing level required increased. However, P. obtusospinosa supersoldiers were rarely found processing food outside the nest and P. spadonia soldiers assisted in processing dead prey but did not help at all in processing live prey. P. obtusospinosa and P. spadonia workers may be more involved with other colony tasks. This hypothesis was confirmed when field observations of P. obtusospinosa showed supersoldiers participating in head-blocking at their entrance to fend off invading army ants; no other castes exhibited this behavior. Lastly, we tested genetic influences on worker polymorphism. We found that as colony genetic diversity increased (via polyandry), the degree of polymorphism increased. We also showed evidence of paternal genes influences on the development of worker castes in the highly polymorphic P. rhea.
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Raunio, T. (Taina). "Gene polymorphism and systemic inflammatory response in chronic periodontitis." Doctoral thesis, University of Oulu, 2009. http://urn.fi/urn:isbn:9789514292361.
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In this study, associations between periodontitis expression, serum levels of inflammatory markers and genetic factors were investigated. The periodontal status of 56 subjects with chronic periodontitis, 28 control subjects and 80 subjects with type I diabetes mellitus (DM) was examined. In addition, a reference group (n=178) with genetic but not with periodontal health data was included. The single nucleotide polymorphisms of CD14 -260, IL-6 -174, TNF-α -308, IL-10 -1082, IL-1A -889, IL-1B +3954, and TLR4 +896 were determined using PCR with RFLP or allele-specific primers, and comparisons of the genotype frequencies were made between the study groups and reference subjects. The serum concentrations of IL-6 and sCD14 were assayed using ELISA.
The distributions of all the studied genotypes were similar in the periodontitis and the reference subjects. However, in the periodontitis group, the carriage of the T-containing genotype of the CD14 -260 and the GG genotype of the IL-6 -174 associated significantly with the extent of periodontitis, indicating that genetic factors play a role in the pathogenesis of the disease.
Both the extent of periodontal infection and the IL-6 -174 genotype were significant determinants for the serum IL-6 level, subjects carrying the GG genotype having significantly higher serum IL-6 levels than those carrying the CC/CG genotype. The serum level of sCD14 was significantly higher in subjects carrying the T-containing than the CC genotype of the CD14 -260 in the control group but not in the periodontitis group, suggesting that severe periodontal infection overshadows the influence of the genotype on serum sCD14 level. Overall, the serum studies indicated that periodontal infection is associated with a low-grade systemic inflammatory response.
Type 1 DM subjects carrying the GG genotype of the IL-6 -174 had a higher extent of periodontitis when compared with those carrying the CG/CC genotype. Our results also suggest that the IL-6 -174 genotype is a more significant determinant of the extent of periodontitis in type 1 DM than glycemic control.
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Kurosawa, Izumi. "Solid-Liquid Equilibrium in Multi Solute Systems." Diss., Georgia Institute of Technology, 2004. http://hdl.handle.net/1853/4993.
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Solid-liquid equilibrium in isomorphous amino acid systems has been investigated as a model for systems that form solid solutions. Solid- and liquid-phase compositions in L-valine + L-leucine, L-valine + L-isoleucine, and L-isoleucine + L-valine in water were measured over the entire range of solid composition, and it was shown (from mass balance and phase rule considerations) that these systems form solid solutions. The solid- phases resulting from isothermal and cooling crystallization experiments were also investigated using powder x-ray diffractometry which showed that homogeneous solid solutions could only be obtained in cooling crystallization experiments, whereas isothermal experiments generally produced inhomogeneous solids. This suggests that data reported in the literature from isothermal experiments may not represent true equilibrium values. Solid-phase activity coefficients were estimated using binary and ternary equilibrium data and the UNIFAC-Kuramochi model for liquid-phase nonidealities. The solid phases in the three systems investigated exhibited significant nonidealities that were correlated using the Margules model. The model parameters exhibited a linear relationship with the ratio of binary solubilities of the two solutes. Such simple relationship may be advantageous when solid-liquid equilibrium of thermally unstable solutes or components with unknown physical properties are crystallized.
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Perrow, Karen Amanda. "Genetic polymorphism of the immunoregulatory system with specific reference to apoptosis." Thesis, University of Newcastle Upon Tyne, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.417497.
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Chavez, Krystle J. "Crystallization of pseudopolymorphic forms of sodium naproxen in mixed solvent systems." Diss., Atlanta, Ga. : Georgia Institute of Technology, 2009. http://hdl.handle.net/1853/29759.
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Thesis (Ph.D)--Chemical Engineering, Georgia Institute of Technology, 2009.Committee Chair: Rousseau, Ronald; Committee Member: Meredith, Carson; Committee Member: Prausnitz, Mark; Committee Member: Teja, Amyn; Committee Member: Wilkinson, Angus. Part of the SMARTech Electronic Thesis and Dissertation Collection.
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Münch, Manfred. "Generic modelling with graph rewriting systems paramateric polymorphism and object-oriented modelling with Progress /." [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=970711239.
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Fan, Li. "Novel investigations of sulfimide systems." Thesis, Loughborough University, 2011. https://dspace.lboro.ac.uk/2134/8027.
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S,S-diphenyl sulfimide (Ph2SNH) has been employed in current investigations divided in three different directions, concerning hydrogen bonding motifs of new sulfimide systems, polymorphism of trans- Cu(Ph2SNH)2Cl2 as well as carboxylations of Ph2SNH. The isomorphic analogues of [Mn(Ph2SNH)6]Cl2 and [Co(Ph2SNH)6]Cl2 were synthesised as parent systems, with their derivatisations by metathesis to give BF4 and PF6 salts. The BF4 daughter systems displayed face on and snug fit hydrogen bonding motifs in the Mn(II) and Co(II) variants respectively. The PF6 analogues were the first examples to have spectator sulfimide units not participating in hydrogen bonds, rationalised as means to relief steric constrains. [Co(Ph2SNH)4]SO4 was observed to be stabilised by the formation of l-D hydrogen bond array between the unsaturated complex centres with SO4 anions. The square planar polymorph of trans- Cu(Ph2SNH)2Cl2 has recently been observed to display reversible mechanochromism when ground. The yielding of a green ground collective was reasoned as the formation of an amorphous conformer closely related to the green pseudotetrahedral polymorph. The concomitant crystallisation of both forms has also been revisited. Internal voids, ether partial pressure and volume of mother liquor have been proposed as contributing factors concerning the crystallisation outcomes. The reaction between Ph2SNH and CO2 led to the formation of [Ph2SNH2]HCO3, Ph2SN(H)COO as well as Ph2SNCOOH, depending on reaction conditions. The zwitterion of Ph2SN(H)COO is expected to be the principle product of Ph2SNH/CO2 reactions, while [Ph2SNH2]HCO3 was deduced as a hydrolysis product of Ph2SN(H)COO. The isolation of Ph2SNCOOH was only possible when CO2 fixation was carried out in DMSO, rationalised as a unique proton transfer equilibrium only attainable in the protophilic solvent.
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Dai, Yang. "Impact of the CYP3A5 polymorphism on the metabolic disposition of calcineurin inhibitors /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/7935.
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Yang, Yan. "The genetic complexity and protein polymorphism of complement c4 in health and disease." Connect to this title online, 2004. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1080242341.
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Thesis (Ph. D.)--Ohio State University, 2004.Title from first page of PDF file. Document formatted into pages; contains xviii, 212 p.; also includes graphics (some col.) Includes bibliographical references (p. 185-212). Available online via OhioLINK's ETD Center
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Raginis-Zborowska, Alicja Iwona. "Unravelling the genetic basis for cortical plasticity in the human swallowing motor system." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/unravelling-the-genetic-basis-for-cortical-plasticity-in-the-human-swallowing-motor-system(6734efa3-1872-44bf-9642-1cb28a5b404e).html.
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Swallowing is an important physiological function leading to nourishment of the organism, controlled by complicated interactions between the muscles, the cranial nerves and multiple brain structures. Swallowing impairments, also called dysphagia, are a major health burden for patients with neurological diseases such as stroke, Parkinson’s disease as well as community dwelling elderly individuals. It has been shown that activation of undamaged swallowing motor cortex compensates for the initial lost swallowing function in stroke patients. Non-invasive brain stimulation provides a tool to explore excitability within the areas of the motor cortex responsible for swallowing muscles. Repetitive transcranial magnetic stimulation (rTMS) is one such technique, with defined frequency parameters, however the underlying reasons for the heterogeneity is responses to low (1Hz) and high (5Hz) frequencies is unclear. These physiological interactions affecting the neurological control of swallowing may be influenced by multiple genes and proteins. Insights into the molecular basis of swallowing through genetic interactions could provide a source of information which can be further used in understanding and treating swallowing impairments. Existing evidence is limited in terms of candidate proteins, genes and pathways which might drive the neural control of swallowing. The aim of my doctoral research was to explore genes which might be involved in swallowing neurophysiology and pathophysiology. My hypothesis is that swallowing due to its complicated physiology is most likely affected by multiple genes and interactions between genes and proteins. To study this hypothesis I used two experimentally distinct study designs. Firstly I explored a number of single nucleotide polymorphisms (SNPs) and potential candidate genes presented in the existing literature. Then, I performed a SNP- and gene-based Genome-Wide Association Study (GWAS) of self-reported swallowing impairments compared with over 500,000 single nucleotide changes. For GWAS I used a group of 555 community dwelling individuals from the Dyne Steel Cohort from the areas of Manchester and Newcastle. Further research involved replication of selected genes and SNPs from literature screening and GWAS using two rTMS paradigms on the largest to date cohort of healthy young volunteers. Forty one volunteers (were assessed for corticobulbar excitability after single-pulse TMS. Repeated measurements of motor evoked potentials from the pharynx and the hand were recorded after the interventions of 1Hz and 5Hz rTMS. The subjects’ individual responses were grouped according to multiple criteria and then associated with factors such as gender, ethnicity, time of day of the stimulation and individual genetic information. GWAS analysis for association with swallowing impairment identified one SNP rs17601696 which achieved genome-wide significance (P-value=5×10(-8)) within a non-coding region of chromosome 10. Gene-based analysis did not result in any genome-wide significant association. In replication of these findings and following a priori selected genes from the literature (BDNF, COMT, TRKB, APOE, DRD2, GRIN2B and GRIN1) from neurophysiological studies applying TMS, two main conclusions were formed. Firstly, rTMS paradigms showed high variability in responses which made the phenotype more complicated. Secondly the result from GWAS could not be confirmed. By contrast, SNP rs6269 from the COMT gene was associated with responsiveness of the pharyngeal MEPs after delivering 1Hz paradigm and rs1800497 from the DRD2 gene with responsiveness after 5Hz rTMS.Lack of replication of the findings between two experiments might be caused by high variability in responsiveness with complex molecular networks of swallowing control where multiple genes with small genetic effects are involved. Although our findings support the hypothesis that molecular markers can be associated with swallowing, more studies are needed to understand the individual factors that determine responsiveness and effectiveness of treatment therapies of swallowing impairments.
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Siegler, Maxime André. "Polymorphism of four enantiotropic crystalline systems containing Ni(II), H₂O, 15-crown-5 and NO₃⁻." Lexington, Ky. : [University of Kentucky Libraries], 2007. http://hdl.handle.net/10225/732.
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Thesis (Ph. D.)--University of Kentucky, 2007.Title from document title page (viewed on March 24, 2008). Document formatted into pages; contains: xvii, 305 p. : ill. Includes abstract and vita. Includes bibliographical references (p. 295-301).
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Purswani, Ramchandani Nuri. "Introducing the gemma of the liverwort Marchantia polymorpha L. as a simple morphogenetic system." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.709024.
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Ylitalo, A. (Antti). "Cardiovascular autonomic regulation in systemic hypertension." Doctoral thesis, Oulun yliopisto, 1999. http://urn.fi/urn:isbn:9514252128.
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Neurogenic factors are known to be important in the development of hypertension. Our current knowledge of the role of autonomic nervous system in chronic hypertension is, however, limited. The purpose of the present study was to evaluate the possible abnormalities in heart rate variability (HRV) and baroreflex sensitivity (BRS) in patients with long standing systemic hypertension compared to subjects without evidence of cardiovascular disease. A particular aim was also to examine whether genetic variation in the renin-angiotensin-aldosterone system (RAS) genes have an influence on cardiovascular autonomic regulation.
Case-control studies were carried out on a total of 280 normotensive and 214 hypertensive subjects drawn from a random middle-aged population originally recruited for an epidemiologic study of cardiovascular risk factors. The possible association of BRS with the genetic polymorphisms of renin-angiotensin-aldosterone system genes was studied in a cross-sectional study of 315 healthy controls. Genetic associations were also tested in a younger, independent population sample of 66 subjects. The effects of intensified antihypertensive treatment on autonomic cardiovascular control were evaluated in 33 hypertensive patients with poor blood pressure control.
Wide interindividual variation in both HRV and BRS was observed in normotensive as well as hypertensive subjects. Overall HRV and autonomic responses to a change in body posture were blunted in long-standing hypertension. Decreased HRV was mainly related to elevated blood pressure and obesity.
For the first time in a population-based study, it was confirmed that BRS is impaired in patients with long-standing hypertension despite adequate antihypertensive treatment. In contrast to HRV, BRS was reduced in hypertensive subjects also after adjustment for blood pressure and obesity. BRS also varied widely both between healthy and hypertensive individuals. The wide interindividual variation in the markers of autonomic cardiovascular regulation was not, however, completely explained by demographic variables, cardiovascular risk factors or lifestyle, suggesting a genetic component contributing to HRV and BRS.
The polymorphism in the aldosterone synthase (CYP11B2) gene was found to strongly associate with BRS in two independent random populations of apparently healthy subjects. The association was even stronger in the younger population. On the basis of the observations made in the older population, it seems possible that women are protected against the effect of age and blood pressure on BRS and tend to maintain the genomic influence longer.
Intensified antihypertensive combination therapy improved blood pressure control and caused regression of left ventricular hypertrophy, and resulted in significant improvements of HRV and BRS.
The present study shows that HRV and BRS are altered in long-standing systemic hypertension. Together with age, blood pressure and obesity, genetic factors seem to be important determinants of BRS. However, abnormal autonomic cardiovascular regulation does not seem to be an irreversible phenomenon, but can be partly restored by modern combination antihypertensive therapy.
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McCready, Jessica. "The Influence of a Single Nucleotide Polymorphism In The Matrix Metalloproteinase-1 Promoter on Glioma Biology." VCU Scholars Compass, 2006. http://scholarscompass.vcu.edu/etd/1123.
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Glioblastomas are an incurable type of brain tumor with a mean survival time of 9-12 months following diagnosis. One of the reasons for this poor prognosis is the ability of tumor cells to invade the surrounding normal brain tissue. Enzymes responsible for this invasive nature include the matrix metalloproteinase family. MMP-1 is a member of this family which has been well studied in many types of invasive tumors, with gliomas being an exception. We studied a single nucleotide polymorphism (SNP) in the MMP-1 promoter that may influence glioma biology. This SNP consists of the presence (2G) or absence (1G) of a guanine nucleotide at position -1607. The additional guanine nucleotide creates a binding site for ETS transcription factors and combined with the AP-1 binding site at position -1602 creates a Ras Responsive Element. We determined that the distribution of the MMP-1 genotype differed significantly between the healthy population and the glioblastoma patient population, with the 2G/2G genotype more prevalent in the glioblastoma patients. In addition, MMP-1 mRNA and protein examined in a select group of patient tissue had significantly higher levels when compared to normal brain controls, however, there was no correlation with genotype. Promoter reporter assays indicated that the 2G promoter was approximately three times more active than the 1G promoter in three different glioma cell lines.We investigated potential signaling mechanisms responsible for increases in MMP-1 transcription due to the presence of the RAS responsive element. Treatment of glioma cell lines with hepatocyte growth factor/scatter factor (HGF/SF) led to significant increases in MMP-1 transcription, via the MAP kinase ERK pathway. AP-1 transcription factor proteins, cJun and cFos were increased in response to HGF treatment but not Ets-1 and ETV-1. HGF/SF treatment of glioma cell lines differing in their MMP-1 genotype affected binding of ETS and AP-1 proteins to the endogenous MMP-1 distal promoter. Using chromatin immunoprecipitation assays, we identified these differentially DNA-bound AP-1 and ETS proteins. The data presented indicate that the MMP-1 SNP (-1607) is important in glioma biology and may contribute to tumor function and future investigations into its role in glioma biology is warranted.
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Bodamer, Betsy L. "The effects of wetland streams on the secondary dispersal of zebra mussels (Dreissena polymorpha) in connected lake-stream systems /." Connect to full text in OhioLINK ETD Center, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=toledo1196720548.
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Thesis (M.S.)--University of Toledo, 2007.Typescript. "Submitted as partial fulfillment of the requirements for The Master of Science Degree in Biology (Ecology-track)." "A thesis entitled"--at head of title. Bibliography: leaves 19-23.
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Alexandrie, Anna-Karin. "Significance of polymorphisms in human xenobiotic metabolising enzymes /." Stockholm, 2002. http://diss.kib.ki.se/2003/91-7349-421-6/.
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Sevenet, Nicolas. "Recherche de marqueurs génétiques dans la maladie de Crohn : polymorphime des loci de classe II du système HLA." Paris 5, 1994. http://www.theses.fr/1994PA05P240.
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Tyler, Benjamin James. "Specification and runtime monitoring of object-oriented systems." Columbus, Ohio : Ohio State University, 2006. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1143228898.
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Tam, Le Minh [Verfasser]. "Designing crystallization based-enantiomeric separation for chiral compound-forming systems in consideration of polymorphism and solvate formation / Le Minh Tam." München : Verlag Dr. Hut, 2014. http://d-nb.info/1052374735/34.
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[Verfasser], Le-Minh-Tam. "Designing crystallization based-enantiomeric separation for chiral compound-forming systems in consideration of polymorphism and solvate formation / Le Minh Tam." München : Verlag Dr. Hut, 2014. http://nbn-resolving.de/urn:nbn:de:101:1-2014062022375.
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Abastado, Jean-Pierre. "Origine et fonction du polymorphisme des antigenes de transplantation." Paris 6, 1987. http://www.theses.fr/1987PA066223.
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Allred, Laura K. "Polymorphic variants of Human Fc-GAMMA-RIIIa, gamma-chain, CTLA-4 and Fc-GAMMA-RIIb1 : possible implications for systemic Lupus Erythematosus Pathogenesis /." The Ohio State University, 2001. http://rave.ohiolink.edu/etdc/view?acc_num=osu1486394475979377.
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Ufer, Mike. "The in-vitro and in-vivo metabolism of the oral anticoagulant phenprocoumon as influenced by genetic polymorphisms of cytochrome P4502C9 /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-172-5/.
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Aklillu, Eleni. "Pharmacogenetics of drug metabolizing enzymes with special emphasis on Ethiopians /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-460-7/.
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Cambon, Karine. "Influence of ApoE polymorphism on synaptic morphometry during aging in the dentate gyrus of ApoE knockout and human ApoE transgenic mice." Thesis, [n.p.], 2000. http://oro.open.ac.uk/19118/.
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Hoang, Minh Duc. "Establishment of the human cardiac models using gene editing and reprogramming in Human Pluripotent Stem Cells to understand the putative functions of the G-protein coupled receptor kinase 5 polymorphism (GRK5-L41)." Thesis, University of Nottingham, 2017. http://eprints.nottingham.ac.uk/47429/.
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A nonsynonymous single polymorphism (SNP) in G protein-coupled receptor kinase 5 (GRK5) was discovered in 2008 that changes the amino acid at the position 41 from Glutamine (Q) into Leucine (L) (Liggett et al., 2008). The putative functions of the GRK5-L41 polymorphism were reported to be involved in faster desensitisation of both b1 and b2 adrenergic receptors in vitro and the cardiac protective functions by improving the survival rate of patients with heart failure conditions or transplantation in vivo. Nevertheless, the mechanisms underlying these processes are still poorly understood, which is the purpose of this thesis. This thesis presents the establishment of the first human cardiac models of GRK5- L41 polymorphism using human pluripotent stem cells (hPSCs) and their derived cardiomyocytes (CMs). The thesis is distributed into four main themes, containing (1) the formulation of monolayer cardiac differentiation protocols; (2) the establishment of human induced pluripotent stem cells from lymphoblastoid cell lines bearing the GRK5- L41 sequence; (3) the development of footprint-free and shortcut CRISRP/Nickase approach that allowed generating the gene-edited human embryonic stem cells expressing GRK5-Q41, GRK5-Q/L41, and GRK5-L41; and (4) the evaluation of GRK5- L41 functions using cardiac functional analysis assays. Relating to disease modelling and cardiovascular biomedical research, the ability to differentiate the hPSCs into CMs plays a critical role by providing an unlimited resource of human CMs for in vitro testing and experiments. Here, three main monolayer cardiac differentiation protocols, including E8-AB, mTeSR-AB, and mTeSR-CHIR, were described in details and proven to be highly consistent, efficient, robust, and reproducible. Additionally, these protocols have been ascertained to be effective in more than 27 hPSC lines routinely maintained in the lab regardless of the culture conditions (non-defined vs. defined culture conditions), cell types (human embryonic stem cells vs. human induced pluripotent stem cells), reprogramming methods, and somatic cell sources (in the case of induced pluripotent stem cells). Indeed, by using the E8-AB protocol, more than 1x107 CMs/line have been produced in this thesis, providing enough resource for functional assay analysis and mechanistic studies of GRK5-L41. Furthermore, two independent approaches were made to create the human cardiac model of GRK5-L41 polymorphism, involving the establishment of GRK5-L41 bearing hiPSCs from lymphoblastoid cell lines, and simultaneously introducing the GRK5-L41 sequence to the HUES7 genome to create the Q/L41, and L41 expressing HUES7 lines. In general, four hPSC lines were successfully generated in this thesis, including hiPSC-GRK5-L41, hiPSC-GRK5-Q41, HUES7-GRK5-Q/L41, and HUES7- GRK5-L41. The H-Fib-hiPSC, cell lines generated from HUES7-derived fibroblast, was the additional line obtained after testing the effectiveness of episomal plasmid. All cell lines were able to differentiate into CMs at high purity, approximately 85%, and were used for the development of functional assays. Four main functional experiments were developed focusing on the GRK5-related functions in the heart, consisting of contractility and hypertrophic response to catecholamine induction, especially during the chronic response. The effects of catecholamine, in this case, Isoprenaline (ISO), on the contractility of the CMs were measured by two assays, the CardioExcyte96 platform detecting the contraction rate and beating pattern in real-time, and the LANCE Ultra cAMP assay assessing the production of cAMP. These results indicated that extended culture of CMs in ISO (>30h) introduced the detrimental effects on the contractility and beating pattern of the CMs in vitro, generating the arrhythmias in GRK5-Q41 CMs. Interestingly, the GRK5-L41 CMs exhibited a high level of the beat rate in response to ISO and maintained it constantly during prolonged exposure to ISO similar to that of b-blocker treatments in GRK5-Q41 CMs. The Western Blot analysis of the cellular distribution of GRK5 spotted the localisation of GRK5 during ISO treatment for 72h. Further characterisation using immunofluorescence analysis of chronic exposure to ISO demonstrated the elevation of BNP level, a hypertrophic marker, indicating that ISO treatment duration (>30h) induced the hypertrophic response of hPSC-CMs in vitro. Taken together, the findings within this thesis has been the first step in a discovery process of the cardiac protective functions of GRK5-L41 polymorphism during heart failure. Despite the presence of limitation and difficulty, it manages to provide sufficient information to explore further the interrelationship between nuclear accumulation of GRK5, hypertrophic response, and contractility regulation mediated by either GRK5-Q41 and GRK5-L41 in hPSC-CMs in vitro.
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Krampis, Konstantinos. "Systems View Of The Soybean Genetic Mechanisms Involved In The Response To Plant Pathogen Infection." Diss., Virginia Tech, 2009. http://hdl.handle.net/10919/37672.
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This thesis involves the important crop plant soybean (Glycine max), and provides a rich information resource for breeders and geneticists working towards improving traits for pathogen resistance.Results reported here provide a systemic view at both the genetic and biochemical level, and were generated by dataÂ-mining gene expression data from soybean cultivars inoculated with plant pathogens and also recombinant inbred line (RIL) populations.The genome variability based on Single Feature
Polymorphisms (SFPs) was measured for the first time in soybean, using a genetically diverse set of cultivated G. max lines and also a G. soja line. Additionally, a genetic map spanning all 20 soybean chromosomes groups were assembled in a large RIL population.The well studied metabolic
pathways from the model plant Arabidopsis thaliana, were reconstructed in G. max based on sequence similarity comparison between the genomes of the two species. We performed algorithmic analysis of pathways in our set of soybean lines and RILs using the gene expression data, and acquired a systemic view of the metabolic response to pathogen infection in different genetic backgrounds.Significant differences in the patterns of pathway perturbation was observed in the different lines, and also between four different chromosomal regions that have been known to contain genetic elements contributing to pathogen resistance.Ph. D.
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Westlind, Johnsson Anna. "Pharmacogenetics of human cytochrome P450 3A (CYP3A) enzymes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-688-x.
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Ferguson, Anthea Elizabeth Women's & Children's Health Faculty of Medicine UNSW. "Gene polymorphisms influencing the cause and disease outcome of childhood central nervous system tumours." Awarded By:University of New South Wales. Women's & Children's Health, 2009. http://handle.unsw.edu.au/1959.4/44816.
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Tumours of the central nervous system (CNS) are the second most common cancers diagnosed in children, yet the cause of this disease remains largely unknown. This thesis examines whether polymorphisms in folate-metabolising and glutathione S transferase (GST) genes influence the risk and disease outcome of childhood CNS tumours. 204 children aged ≤18 years diagnosed with a CNS tumour at the Sydney Children??s Hospital between 1989 and 2004 were included in the study. DNA samples were isolated from archival frozen and formalin-fixed paraffin-embedded tumour tissue. Polymorphisms in GST and folate pathway genes were examined using real-time PCR. Genotype distributions in children with CNS tumours were compared to those observed in a control panel of cord blood samples from 363 healthy newborns. Children carrying at least one variant allele for each of MTHFR 677 C>T, MTHFR 1298 A>C, MTR 2756 A>G, MTRR 66 A>G, and RFC 80 G>A were found to have a 2.8-fold greater risk of developing a CNS tumour than non-carriers (OR=2.80; 95%CI: 1.08-7.56, P=0.022), an association which was even more apparent in those children with an embryonal tumour (OR=4.54; 95%CI: 1.13-15.85, P=0.016). Results also showed that children with the GSTP1 105 Val/Val genotype were three times more likely to develop a CNS tumour of embryonal cell origin than children with the GSTP1 105 Ile/Ile or Ile/Val genotypes (OR=3.02; 95%CI: 1.34-6.46, P=0.005). No such association was observed for CNS tumours of glial cell origin. The GSTM1, GSTT1, and GSTP1 Ala114Val polymorphisms did not appear to be associated with the development of a childhood CNS tumour. In addition, children with the MTHFR 677 TT or RFC 80 AA genotypes were found to have a higher risk of death within 5 years of diagnosis compared to children with one or more MTHFR 677 C or RFC 80 G alleles, respectively (HR=5.52, 95%CI: 1.00-30.37, P=0.049 and HR=5.69, 95%CI: 1.38-23.51, P=0.016, respectively), after adjusting for other prognostic factors such as sex, age at diagnosis, period of diagnosis, and tumour grade. Conversely, children with the MTR 2756 AG or GG genotypes, or MTRR 66 AG or GG genotypes, were more likely to survive compared to those with the MTR 2756 AA or MTRR 66 AA genotypes, respectively (HR=0.21, 95%CI: 0.05-0.93, P=0.040 and HR=0.11, 95%CI: 0.02-0.53, P=0.006). Results presented in this thesis indicate that polymorphisms in folate-metabolising and GST genes may play a role in the aetiology and survival of childhood CNS tumours, and that this may vary depending on the histological sub-type of tumour.
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Ågren, Thomas. "Erasing Fear : Effect of Disrupting Fear Memory Reconsolidation on Central and Peripheral Nervous System Activity." Doctoral thesis, Uppsala universitet, Institutionen för psykologi, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-180202.
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Fear memories, here defined as learned associations between a stimulus and a physiological fear reaction, are formed through fear conditioning. In animals, fear memories, present in the lateral amygdala, undergo reconsolidation after recall. Moreover, this reconsolidation process can be disrupted both pharmacologically and behaviourally, resulting in a reduced fear response to the stimulus. This thesis examines the attenuation of fear memories by disrupting reconsolidation in humans, using measures of both the central and peripheral nervous system activity. Serotonergic and dopaminergic genes have previously been tied to both fear conditioning and anxiety disorders, where fear conditioning mechanisms are important. In order to evaluate the possible role of fear memory reconsolidation mechanims in the effect on fear and anxiety by these genes, this thesis also compare the reconsolidation disruption effect between different serotonergic and dopaminergic genotypes. Study I examined the attentuation of fear memories by disrupting reconsolidation in humans using reacquisition as a measure of the return of fear. Moreover, study I investigated the impact of differences in serotonergic and dopaminergic alleles on this process. Study II examined the attentuation of fear memories by disrupting reconsolidation in humans using reinstatement as a measure of the return of fear. Study II also investigated the impact of differences in serotonergic and dopaminergic alleles on the process of fear memory reconsolidation. Study III used psychophysiology and fMRI to localize the functional neural activity mediating the fear memory reconsolidation disruption effect. In summary, this thesis provides evidence that fear memories are attenuated by reconsolidation disruption in humans and that serotonergic and dopaminergic alleles influence this process. Moreover, this thesis support that human fear memory reconsolidation is amygdala-dependent, suggesting an evolutionary shared memory mechanism.
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Myerson, Saul Gareth. "Exercise physiology and the renin-angiotensin system : role of the ACE gene insertion/deletion polymorphism in cardiac growth and endurance exercise." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270592.
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Rucatti, Guilherme Gischkow. "Estudo da influência dos polimorfismos da lectina ligadora da manose e hábito tabagista sobre os índices de atividade, cronicidade e dano de pacientes com lúpus eritematoso sistêmico." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/28694.
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O lúpus eritematoso sistêmico (LES) é uma doença auto-imune caracterizada pela produção de múltiplos auto-anticorpos, com componentes celulares nucleares como principal alvo. De etiologia desconhecida, envolve fatores genéticos, imunológicos, hormonais e ambientais. A deficiência na lectina ligadora da manose (MBL), um dos componentes do sistema de complemento, pode produzir uma apresentação anormal de antígenos para o sistema imunológico. Os polimorfismos genéticos na região promotora e codificante do gene MBL2 estão fortemente correlacionados com os níveis séricos da proteína MBL, tendo um possível impacto no mecanismo de tolerância imunológica. A influência do tabagismo ainda não foi avaliada em pacientes que apresentam estas variações alélicas. Nosso objetivo foi investigar o papel dos haplótipos associados à produção de MBL e tabagista sobre os índices de atividade, cronicidade e dano em pacientes com LES. Investigamos a frequência haplótipica da MBL em 327 pacientes com LES, classificados em Euro e Afro-descendentes. O hábito tabagista, dados clínicos e laboratoriais foram retirados dos prontuários e protocolos de pesquisa. A genotipagem do promotor e das variantes do exon 1 da MBL2 foram feitas por PCR-SSP e PCR-RFLP, respectivamente. Os índices SLICC e SLEDAI foram analisados comparando tabagismo, maços/ano (MA) e haplótipos através do teste Kruskal-Wallis e quiquadrado com Bonferroni para as outras análises. O estudo foi aprovado pelo comitê de ética do HCPA. Quando comparados fumantes e não-fumantes, não encontramos associação entre SLEDAI e SLICC com tabagismo, MA e os haplótipos da MBL. Em uma subanálise, manifestações como serosite (p = 0.025), pericardite (p = 0.015), convulsões (p = 0.011) e presença de anticorpos anti-Sm (p = 0.016) apresentaram uma maior frequência em não-fumantes. Entre fumantes, foi observado uma associação significativa entre alterações imunológicas (p = 0.032) e anti-RNP (p = 0,013) em pacientes que fumam de 4-24.7 MA, em comparação com quem fuma menos de 4 ou mais de 24.7 MA. Quando estratificados por etnia e os haplótipos da MBL, Euro-descendentes com haplótipos para deficiência de MBL apresentaram uma maior frequência de anticoagulante lúpico em fumantes (p = 0.016) e pleurite (p = 0.001) entre os que nunca fumaram. Nos haplótipos associados à baixa MBL, encontramos uma associação positiva entre pericardite em não-fumantes (p= 0.027). Entre os haplótipos para alta MBL, vimos uma menor frequência de distúrbios neurológicos (p = 0.05) e imunológicos (p = 0.027) e presença de anticorpos anti-Sm (p = 0.035) em não-fumantes. Em relação aos Afro-descendentes com haplótipos para baixa MBL, observou-se uma associação significativa entre o anti-RNP (p = 0.017) e não-fumantes. Aqueles indivíduos com haplótipo para alta MBL tiveram uma pequena associação entre o VDRL em não-fumantes (p = 0.048). Contudo, quando ajustado o p-valor para a correção de Bonferroni, todas essas associações perderam significância. Os resultados não apresentaram evidências de que o tabagismo possa atuar como um modulador dos índices de atividade, cronicidade e dano em pacientes com LES relacionado aos haplótipos da MBL.Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by multiple autoantibody production, with cellular nuclear components as the most notable targets. With an unknown etiology, it involves genetic, immunological, hormonal and environmental factors. Deficiencies in the mannose-binding lectin (MBL), a component of the complement system, can produce an abnormal presentation of antigens to the immune system. Genetic polymorphisms in the promoter and coding regions of the MBL2 gene are strongly correlated to serum levels of the MBL protein, with possible impact in the immunological tolerance mechanism. The influence of smoking has not been evaluated in patients who present these allelic variants. Our aim was to investigate the role of MBL haplotypes (divided as deficient, low and high serum level-associated haplotypes) and smoking habit on disease activity and damage indexes in SLE patients. We investigated the frequencies of haplotype variants in 327 European and African-descendants SLE patients. Smoking habits, clinical and laboratory data were revised from clinical charts and genotyping of the promoter and exon 1 variants of MBL2 were performed by PCR-SSP and PCR-RFLP, respectively. SLICC and SLEDAI score were analyzed comparing the haplotype, smoking habits and pack-years (PY) of smoking using Kruskal-Wallis test for quantitative variables and chi-square test with Bonferroni for other analysis. The study was approved by the local ethical committee. When comparing ever smokers vs. never smokers, we found a lack of association between SLICC and SLEDAI among smoking habit, PY and MBL haplotypes. Further subanalysis on SLE manifestations showed a higher frequency of serositis (p=0.025), pericarditis (p=0.015), convulsion (p=0,011) and presence of anti-Sm (p=0.016) on never smokers. Among ever smokers, a significant association was observed between immunologic disorders (p=0.032) and anti-RNP (p=0.013) in patients who smoke 4 – 24.7 PY, compared with less than 4 or more than 24.7 PY. When stratified by ethnicity and MBL haplotypes, European-descendants with deficient MBL haplotype showed a higher frequency of lupus anticoagulant in smokers (p=0.001) and pleuritis (p= 0.016) among never smokers. On low MBL haplotype, we found a positive association between pericarditis and never smokers (p= 0.027). Among high MBL haplotype we identified a smaller frequency of neurologic (p=0.05) and immunologic disorders (p= 0.027) and presence of anti-Sm (p= 0.035) in never smokers. In relation to African-descendants with low MBL haplotype, a significant association between anti-RNP (p=0.017) and never smokers was observed. Those with high MBL haplotype had small association between false positive VDRL and never smokers (p=0.048). However, by adjusting the p-value for Bonferroni correction, all these associations lost significance. Our findings presented no evidence that smoking may act as a modulator of disease activity and damage indexes on SLE patients associated to serum MBL haplotypes.
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Sigurdsson, Snaevar. "Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6792.
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[Verfasser], Le-Minh-Tam, and Andreas [Akademischer Betreuer] Seidel-Morgenstern. "Designing crystallization based-enantiomeric separation for chiral compound-forming systems in consideration of polymorphism and solvate formation / Tam Le Minh. Betreuer: Andreas Seidel-Morgenstern." Magdeburg : Universitätsbibliothek, 2014. http://d-nb.info/105791391X/34.
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Siegler, Maxime Andre. "POLYMORPHISM OF FOUR ENANTIOTROPIC CRYSTALLINE SYSTEMS CONTAINING Ni(II), H2O, 15-Crown-5 AND NO3-." UKnowledge, 2007. http://uknowledge.uky.edu/gradschool_diss/565.
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The series of compounds [M(H2O)2(15-crown-5)](NO3)2, M = Mg, Mn, Co, Cu and Zn, has been extended to include two new phases for M = Fe and two new phases for M = Ni. The system [M(H2O)2(15-crown-5)](NO3)2 is remarkable for having many high-Z’ phases (Z’ > 1) with similar packing and for having solid-solid phase transitions through which there is no significant loss of crystallinity. The synthesis of the analogous Ni complex was carried out. Single-crystal X-ray diffraction showed that the coordination of the Ni2+ ion is different from that of the other six M2+ ions in the system [M(H2O)2(15-crown- 5)](NO3)2.
High temperature phases with high Z’ (8) were isolated for M = Mg, Fe and Zn. The refinements of such phases are challenging because of the lack of information in the diffraction patterns. Full details of the refinements for these three phases are discussed.
Six other Ni(II) complexes consisting of Ni2+, NO3-, 15-crown-5 and different solvents were found when efforts were made to synthesize the compound [Ni(H2O)2(15-crown- 5)](NO3)2. In these chemically different environments, the Ni2+ ions are not coordinated by the 15-crown-5 molecules; rather, one-dimensional H-bonded chains are formed from uncomplexed 15-crown-5 molecules and the Ni(II) complexes.
Among these six Ni(II) complexes, the compounds [Ni(H2O)6](NO3)2·(15-crown-5)·H2O, [Ni(H2O)6](NO3)2·(15-crown-5)·2H2O and [Ni(H2O)2(MeCN)(NO3)2]·(15-crown- 5)·MeCN were found to have reversible solid-solid phase transitions between structurally related phases. In all of these transitions, no significant crystal damage was detectable. The two latter systems are unusual because their phase sequences include three transitions and four phases between 90 and 295 K and because of the existence of high-Z’ phases. These high-Z’ phases are best depicted as being intermediate to low- and hightemperature phases. A method based on thermal analyses and X-ray diffraction has been developed for studying such sets of phase transitions.
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Lin, Yvonne S. "Variability in CYP3A expression and metabolism : influence of genetics and probe substrate selection /." Thesis, Connect to this title online; UW restricted, 2002. http://hdl.handle.net/1773/7966.
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