Graduation date: 2005

Les paraplégies spastiques héréditaires (PSH) sont des maladies cliniquement et génétiquement hétérogènes, qui se manifestent par la présence de signes pyramidaux (spasticité, réflexes myotatiques vifs et diffusés) et d’un déficit moteur des membres inférieurs. On distingue des formes pures et complexes de PSH, ces dernières étant associées à la présence de signes additionnels tels que troubles cognitifs, neuropathie périphérique, signes cérébelleux, etc. Les mécanismes physiopathologiques des PSH sont également hétérogènes, incluant une anomalie du transport axonal (SPG3A, SPG4, SPG10, SPG20), du métabolisme mitochondrial (SPG7, SPG13), une anomalie de la formation de la myéline (SPG1) ou un dysfonctionnement du développement neuronal (SPG2). Elles peuvent se transmettre selon le mode autosomique dominant (AD), récessif (AR), ou récessif lié au chromosome X. Actuellement, 13 loci dont 9 gènes de PS-AD sont connus, mais seulement 5 gènes responsables de PS-AR ont été identifiés, alors que 14 loci sont connus. De par leur hétérogénéité clinique, génétique et physiopathologique, les PSH sont encore des maladies mal connues. Une meilleure connaissance du phénotype associé à chaque locus/gène permettrait aux cliniciens de mieux orienter les analyses moléculaires pour un diagnostic rapide. L’établissement de corrélations génotype-phénotypes et de la fréquence des gènes impliqués dans les PSH permettrait tant aux cliniciens qu’aux biologistes de cibler les gènes, les exons à analyser ou les mutations à rechercher en priorité. L’identification des mécanismes physiopathologiques des mutations est une première étape vers des études fonctionnelles et des traitements spécifiques. Nous avons montré que la forme de PS AD liée à des mutations dans le gène SPG3A était caractérisée par un début très précoce, avant l’âge de 10 114 ans. Cette forme en générale pure de PS peut se compliquer, notamment par une neuropathie périphérique ou un syndrome cérébelleux après une longue durée d’évolution de la maladie. Ces résultats permettent d’orienter les analyses moléculaires vers le gène SPG3A avant le gène SPG4, devant tout patient qui a débuté la maladie précocement, quelque soit le tableau clinique. Nous avons montré que les mutations dans le gène SPG3A, dont les mutations récurrentes p.R239C et p.R495W dans les exons 7 et 12 peuvent apparaître de-novo, justifiant l’analyse de ce gène chez des patients isolés. Nous avons étendu le phénotype des PS AD liées à des mutations dans le gène SPG4, qui doit être analysé chez les patients présentant une PS associée à un retard mental sans malformation cérébrale. De plus, nous avons montré que les délétions de ce gène ne sont pas rares, atteignant une fréquence de 20% chez les patients présentant une PS-AD sans mutation retrouvée par DHPLC. Ceci entraîne un changement des stratégies d’analyses moléculaires utilisées chez les patients atteints de PS, avec l’instauration systématique d’un MLPA chez chaque patient. Nous avons précisé le tableau clinique des paraplégies spastiques AR liées aux loci SPG26 et 27. Nous avons réduit l’intervalle génomique de ces loci. L’identification d’autres familles liées à ces loci permettra de réduire encore plus leurs intervalles génomiques, voire d’identifier les gènes responsables de ces maladies.

ABSTRACT The rapid development of structural materials and their successful applications in various sectors of industry have led to increasing demands for assessing their mechanical properties in small volumes. If the size dimensions are below micron, it is difficult to perform traditional tensile and compression tests at such small scales. Indentation testing as one of the advanced technologies to characterize the mechanical properties of material has already been widely employed since indentation technology has emerged as a cost-effective, convenient and non-destructive method to solve this problem at micro- and nanoscales. In spite of the advances in indentation testing, the theory and development on indentation testing are still not completely mature. Many factors affect the accuracy and reliability of identified material parameters. For instance, when the material properties are determined utilizing the inverse analysis relying on numerical modelling, the procedures often suffer from a strong material parameter correlation, which leads to a non-uniqueness of the solution or high errors in parameter identification. In order to overcome that problem, an approach is proposed to reduce the material parameter correlation by designing appropriate indenter tip shapes able to sense indentation piling-up or sinking-in occurring in non-linear materials. In the present thesis, the effect of indenter tip geometry on parameter correlation in material parameter identification is investigated. It may be helpful to design indenter tip shapes producing a minimal material parameter correlation, which may help to improve the reliability of material parameter identification procedures based on indentation testing combined with inverse methods. First, a method to assess the effect of indenter tip geometry on the identification of material parameters is proposed, which contains a gradient-based numerical optimization method with sensitivity analysis. The sensitivities of objective function computed by finite difference method and by direct differentiation method are compared. Subsequently, the direct differentiation method is selected to use because it is more reliable, accurate and versatile for computing the sensitivities of the objective function. Second, the residual imprint mappings produced by different indenters are investigated. In common indentation experiments, the imprint data are not available because the indenter tip itself shields that region from access by measurement devices during loading and unloading. However, they include information about sinking-in and piling-up, which may be valuable to reduce the correlation of material parameter. Therefore, the effect of the imprint data on identification of material parameters is investigated. Finally, some strategies for improvement of the identifiability of material parameter are proposed. Indenters with special tip shapes and different loading histories are investigated. The sensitivities of material parameters toward indenter tip geometries are evaluated on the materials with elasto-plastic and elasto-visoplastic constitutive laws. The results of this thesis have shown that first, the correlations of material parameters are related to the geometries of indenter tip shapes. The abilities of different indenters for determining material parameters are significantly different. Second, residual imprint mapping data are proved to be important for identification of material parameters, because they contain the additional information about plastic material behaviour. Third, different loading histories are helpful to evaluate the material parameters of time-dependent materials. Particularly, a holding cycle is necessary to determine the material properties of time-dependent materials. These results may be useful to enable a more reliable material parameter identification.

The aim of the present study was to determine the distributions of and correlations between hand preference, visual acuity and eye preference through a series of tests in 50 males 50 females aged between 17 and 39 years. Handedness was determined through the Edinburgh handedness inventory questionnaire. The handedness distribution was: right-handed 90%, left-handed 1 %, and ambidextrous 9%. I found that 30 % had better visual acuity with their right eye, 39 % had better visual acuity with their left eye, and 31% had the same visual acuity with both eyes. 75.2% on average used their right eye in the battery of tests and 24.8% on average used their left eye. There were no statistically significant differences between the sexes or age groups with any of the measures. No correlation was found between eye preference and visual acuity or eye preference and hand preference among all subjects. No statistically significance between the sexes was found.

The aim of this thesis was to study chickens of an F7 intercross between red junglefowl and White Leghorn layers in five behavioural tests to see if there were any correlations between traits in the intercross. 80 animals were used (40 males, 40 females); they were tested in a tonic immobility test, an open field, a fear of human test, an aggression test and lastly a sociality test. The results indicate a pair of correlations between the different variables; chickens with long tonic immobility duration were less aggressive, and chickens with a high fear of humans were more social towards other chickens, which could suggest a correlation between fear and social behaviour/aggression. The results from this study also support previous studies showing that one QTL controls chickens’ behaviour in the tonic immobility test based on the correlations found between the variables in the tonic immobility test. Differences between the genders were found in variables that correlated with each other; this could lead to a speculative suggestion that those behaviours are affected by genes on the X-chromosome. There was also a significant relationship between the weight of the male chickens and their behaviour in the open field test and in the fear of human test, in which the heavier males were less fearful than the lighter ones.

A large set of experimental data, obtained in Russia, was analyzed and a new heat-transfer correlation for supercritical water was developed. This experimental dataset was obtained within conditions similar to those for proposed SuperCritical Water-cooled nuclear Reactor (SCWR) concepts. Thus, this new correlation, for forced convective heat transfer in the normal heat-transfer regime, can be used for preliminary heat-transfer calculations in SCWR fuel channels. It has demonstrated a good fit for Heat Transfer Coefficient (HTC) values (±25%) and for wall temperature calculations (±15) for the analyzed dataset. This correlation can be used for supercritical water heat exchangers linked to indirectcycle concepts and the co-generation of hydrogen, for future comparisons with other independent datasets, with bundle data, as the reference case, for the verification of computer codes for SCWR core thermalhydraulics and for the verification of scaling parameters between water and modeling fluids. / UOIT

A Fortran IV language computer program has been written by the author for the analysis of gamma-gamma directional correlations obtained using radioactive sources. In this program the multipole-mixing ratio parameter, A, for the mixed multipole transition in the cascade is varied and the theoretical correlation is calculated for one hundred fifty-seven values of the mixing ratio for each trial spin sequence. The normalized chi-square test, Q2, is used to compare the theoretical and experimental results.The study of the effect of the multipole-mixing ratio and the attenuation factors on gamma-gamma directional correlation shapes has been investigated forsequence sets. The study has been separated into two parts: first, the effect of the attenuation factors when the multipole-mixing ratio is fixed; second, the effect of the multipole-mixing ratio for fixed attenuation factors.The results show the smoothing effect of the attenuation factors on the correlation function and it is illustrated graphically. The effect of the multipole-mixing ratio on the correlation function, with is a quadratic function in S, is also shown graphically.Ball State UniversityMuncie, IN 47306

A multi-detector spectrometer was constructed to measure garmia-gamma angular correlations in 154Gd from the decay of 154Eu. Gamma-ray multipole mixing ratios were extracted from the data. A modified fast-slow coincidence electronics arrangement with selective routing of data was used. One Ge(Li) detector and three NaI detectors were used in the system for rapid data acquisition. "Real-plus-random" and "random" coincidences were accumulated simultaneously with detectors set at selected angles. Mixing ratios for the first transition in the cascades of 1274-123--keV (2--2+-0+), 1005-123-keV (3+-2+-0+), and 723-996-keV (2--2+-O+) were measured as '5(1274) = 0.02 0.02, '5(1005) = -28+10' '5(723) = 0.02 0.02.'The measured correlation for the 592-1005 keV cascade (2--3+-2+) was analyzed by searching a 157 by 157 array of values for '5(592) and 8(1005); agreement was tested using a Q2 criterion. The best agreement for the mixing ratio of the 592-keV transition was 8(592) = 0.08 0:22; for the 1005-keV transition 8(1005) = -9.5+7. The value 8(1005) _ -9.5+7 is taken to be the better value as a result of experimental considerations. The value for the 592-keV transition had not been previously measured.Ball State UniversityMuncie, IN 47306

The Quark Gluon Plasma (QGP) is a form of matter in which quarks and gluons are deconfined, and was suggested to be formed in high-energy heavy-ion collisions. Since the discovery of high-pT hadron suppression in central Au+Au collisions at the Relativistic Heavy Ion Collider (RHIC), and the related discovery of the quenching of the away-side jet in these collisions, the role of jets as key probes of the QGP was re-affirmed. The Solenoidal Tracker At RHIC (STAR) detector system, which is suited for jet studies because of its large solid-angle coverage, has produced a number of interesting jet measurements in recent years, including gamma-jet measurements, attempts at full heavy-ion jet reconstruction, and two-dimensional correlations. A long-range correlation in pseudorapidity (the ?Ridge?) was studied (with statistical significance) out to pT^trig. <? 7 GeV /c and was assumed to have an integrated yield independent of pT^trig. Further studies out to higher pT were limited by the minimum biased statistics taken in Run 4 (2004) with STAR. This work presents results of a ridge analysis with (non-reconstructed) pi0s and direct-gamma-rich triggers out to ?13.5 GeV /c in pT^trig. Using triggered data from Run 7 (2007) and Run 10 (2010) Au+Au collisions detected with STAR. Preliminary results seem to indicate that the ridge yield decreases with pT^trig., and that the ridge yield for direct-?-rich triggers is consistent with zero.

In order to control any system one needs to know the system's current state. In many real-world scenarios the state of the system cannot be determined with certainty due to the sensors being noisy or simply missing. In cases like these one needs to use probabilistic inference techniques to compute the likely states of the system and because such cases are common, there are lots of techniques to choose from in the field of Artificial Intelligence. Formally, we must compute a probability distribution function over all possible states. Doing this exactly is difficult because the number of states is exponential in the number of variables in the system and because the joint PDF may not have a closed form. Many approximation techniques have been developed over the years, but none ideally suited the problem we faced. Particle filtering is a popular scheme that approximates the joint PDF over the variables in the system by a set of weighted samples. It works even when the joint PDF has no closed form and the size of the sample can be adjusted to trade off accuracy for computation time. However, with many variables the size of the sample required for a good approximation can still become prohibitively large. Factored particle filtering uses the structure of variable dependencies to split the problem into many smaller subproblems and scales better if such decomposition is possible. However, our problem was unusual because some normally independent variables would become strongly correlated for short periods of time. This dynamically-changing dependency structure was not handled effectively by existing techniques. Considering variables to be always correlated meant the problem did not scale, considering them to be always independent introduced errors too large to tolerate. It was necessary to develop an approach that would utilize variables' independence whenever possible, but not introduce large errors when variables become correlated. We have developed a new technique for monitoring the state of the system for a class of systems with context-specific correlations. It is based on the idea of caching the context in which correlations arise and otherwise keeping the variables independent. Our evaluation shows that our technique outperforms existing techniques and is the first viable solution for the class of problems we consider.