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Syndrome de Kallmann (KS) : étude de corrélation phénotype/génotype et des modes de transmission de mutations PROK2 et PROKR2 : caractérisation d’un nouveau gène responsable de KS, l’alpha dystrobrévine / Kallmann syndrome (KS) : study of phenotype / genotype correlation and modes of transmission of mutations and PROK2 PROKR2 : characterization of a novel gene responsible for KS, alpha dystrobrevinSarfati, Julie 06 July 2012 (has links)
Le syndrome de Kallmann de Morsier (KS) est défini par l’association d’un hypogonadisme hypogonadotrope (HH) et d’une altération de l’odorat, hyposmie ou anosmie.L’association d’anomalies du système olfactif avec un hypogonadisme a été observée la première fois par Maestre de San Juan en 1956, un anatomopathologiste espagnol qui a décrit un sujet ayant des testicules de petite taille et l’absence de bulbes olfactifs (Maestre de San Juan 1856). En 1944, le psychiatre et généticien américain Franz Josef Kallmann individualisa le syndrome au sein de 3 familles et fit l’hypothèse de son caractère héréditaire (Kallmann et al. 1944). Dans les années 50, l’anatomopathologiste suisse de Morsier approfondit la connaissance du syndrome en décrivant plusieurs cas d’absence complète ou partielle des bulbes et du tractus olfactif chez des patients masculins atteints d’hypogonadisme et d’anomalie anatomique de la ligne médiane (de Morsier 1954; de Morsier 1962; de Morsier and Gauthier 1963). Il appela ce syndrome « dysplasie olfactogénitale » et il fut le premier à suggérer l’origine hypothalamique de l’hypogonadisme. Enfin, en 1971, l’origine hypothalamique de l’hypogonadisme fut démontré, secondaire à un déficit en gonadolibérine (GnRH) (Naftolin et al. 1971). / Kallmann syndrome (KS) : study of phenotype / genotype correlation and modes of transmission of mutations and PROK2 PROKR2 : characterization of a novel gene responsible for KS, alpha dystrobrevin
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Legal discourses and practises on domestic violence in Peru, with particular reference to Andean communitiesEstremadoyro-Vermejo, Julieta Ana Teresa January 2000 (has links)
This is a socio legal study of social regulation on domestic violence in Peru with particular reference to the South Andean communities It reviews the development and implementation of the state legal remedies on domestic violence. The thesis examines law as a result of historical processes, having different meanings for and impact on the various sectors of the Peruvian population Andean communities are the product of the exploitation and resettlement of the original native people. The thesis considers the way in which these communities from a subordinated position perceive state agencies and legal institutions. It is argued that Andean people do not perceive the legal system as a granter of fundamental rights but rather as a perpetrator of abuse From this perspective, the thesis studies how Peruvian feminists have come to see law as a tool by which to improve the position of women affected by domestic violence. It argues that this approach has not taken sufficient account of the reality of Andean women, their perceptions of domestic violence and their strategies for combating this violence. The study examines this reality and pays particular attention to the role of the judges of the peace in Andean women's strategies. It argues that Andean women are building a different social account of law which is at present not recognised by mainstream legal strategies designed to tackle domestic violence in Peru.
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On existence of solutions for some hyperbolic-parabolic type chemotaxis systemsChen, Hua, Wu, Shaohua January 2006 (has links)
In this paper, we discuss the local and global existence of week solutions for some hyperbolic-parabolic systems modelling chemotaxis.
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Sergančiųjų išemine širdies liga kairiojo skilvelio funkcijos ir morfometrijos pokyčiai po kairiojo skilvelio tūrio mažinimo operacijų / Left ventricular function and morphometry changes after left ventricular volume reduction surgery in patients with ischemic heart diseaseRaugelienė, Rūta 17 October 2006 (has links)
The aim of the study To evaluate functional status changes, LV function and morphometry changes in patients with ischemic heart disease one year after LV volume reduction surgery of two different types. The objectives of the study 1.To evaluate clinical and functional status changes in patients one year after LV volume reduction surgery of two different types and to determine prognostic value of preoperative LV functional parameters affecting functional status changes in patients one year after surgery. 2.To evaluate LV function and morphometry changes one year after LV volume reduction surgery of two different types and to determine prognostic value of preoperative LV parameters for LV remodeling one year after surgery. 3.To compare LV function and morphometry changes in patients with anterior and posterior myocardial infarction one year after LV volume reduction surgery. 4.To evaluate the changes of mitral regurgitation grade and its relations with LV functional parameters one year after LV volume reduction surgery with or without concomitant MV repair. 5.To evaluate survival and its predictors one year after LV volume reduction surgery.
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Morphological, molecular and genetic aspects of the GnRH neuronal migratory process in mice and humans / Étude anatomique, moléculaire et génétique de migration des neurones à GnRH chez la souris et l'hommeMalone, Samuel Andrew 20 October 2017 (has links)
Chez les mammifères, le contrôle de la reproduction est médié par un réseau hypothalamique qui intègre divers stimuli pour réguler la sécrétion de la Gonadotropin Releasing Hormone (GnRH). Ces neurones à GnRH naissent dans la placode olfactive et migrent vers le cerveau le long des axones vomeronasaux et terminaux au cours du développement embryonnaire. Bien que ce processus a bien été étudié chez les rongeurs, sa caractérisation complète chez l'homme reste inachevée. Il est largement admis que des perturbations dans le développement ou dans la sécrétion de GnRH sont associées chez l’homme à un hypogonadisme hypogonadotrope congénital (CHH), qui est un trouble caractérisé par un retard ou une absence de la puberté conduisant à l'infertilité.Les systèmes GnRH et olfactif ont des liens complexes au cours du développement, le syndrome de Kallmann (KS) représente un trouble qui associe l'hypogonadisme dû à une déficience en GnRH et l'anosmie. Le CHH et le KS sont des troubles oligogéniques, les mutations génétiques sous-jacentes n’expliquent que 50% des cas cliniques.Dans cette étude, nous avons entrepris une caractérisation complète du processus migratoire des neurones à GnRH au cours du premier trimestre de gestation sur une grande série d'embryons et de fœtus humains, ce qui nous a permis d’élaborer le premier atlas chronologique et quantitatif de la distribution de GnRH. En effet, l'utilisation d’une nouvelle approche de transparisation des tissus embryologiques humains par de solvants organiques, a permis d’établir pour la première fois, une véritable représentation des neurones dans leur contexte natal in vivo.De plus, les résultats de cette étude ont non seulement révélé que le nombre de neurones GnRH chez l'homme était significativement plus élevé que prévu, mais aussi que ces derniers migrent vers plusieurs régions du cerveau extra-hypothalamique, en plus de l'hypothalamus. Leur présence dans ces régions soulève l'hypothèse qu’ils pourraient exercer des rôles non reproductifs, créant de nouvelles pistes pour la recherche sur les fonctions du système GnRH dans les processus cognitifs, comportementaux et physiologiques.Le second objectif de ce travail a visé à caractériser un nouveau gène candidat impliqué dans le développement du système GnRH: L'hormone Anti-Müllerienne (AMH), connue pour son rôle dans la différenciation de la gonade bipotentielle chez les mâles. Néanmoins, une récente étude menée par notre équipe a mis en évidence son rôle extragonadique sur les neurones à GnRH en période post-natale.Le séquençage complet d'une large cohorte de patients européens a révélé plusieurs nouvelles mutations faux-sens dans le gène de l’AMH chez les patients atteints de CHH et KS, non retrouvés dans la cohorte des témoins. L’évaluation de la pertinence fonctionnelle de ces mutations a ensuite été effectuée par diverses analyses biochimiques in vitro de la bioactivité des mutations, ainsi que par la caractérisation d'une lignée de souris transgénique. Ce qui a entraîné une diminution de la sécrétion de l'AMH et une diminution de la bioactivité de la protéine sécrétée dans les études in vitro; Conduisant à une éventuelle réduction de la capacité migratoire. Cela suggère fortement que ces mutations pourraient avoir un effet pathogène.En outre,nous montrons que le récepteur AMHR2 est exprimé le long des fibres olfactives et par les neurones à GnRH pendant le processus migratoire GnRH. L'analyse pathohistologique des souris Amhr2 -/- a révélé une altération de la migration embryonnaire des neurones à GnRH vers le cerveau antérieur basal, entraînant une réduction significative du nombre total de neurones GnRH dans les cerveaux adultes de ces animaux, conduisant à une fertilité réduite. L’ensemble de ces travaux indiquent que l'insuffisance de signalisation AMH contribuerait à la pathogenèse des troubles de CHH chez l’homme, et met en évidence un nouveau rôle de l'AMH dans développement et la fonction des neurones GnRH. / The control of mammalian reproduction is mediated by a hypothalamic network that integrates various stimuli to regulate the periodic secretion of gonadotropin-releasing hormone (GnRH). GnRH neurons, originate in the olfactory placode and enter the brain along vomeronasal and terminal axons during embryonic development. This process has been well studied in rodents, however, a full characterisation in humans was lacking. Alterations either in the development of this system or in the secretion of GnRH are associated with congenital hypogonadotropic hypogonadism (CHH) in humans, a condition characterized by failure of sexual competence. Due to the inextricable links in the development of the olfactory and GnRH systems, there also exists the developmental condition, Kallmann syndrome (KS), associating hypogonadism due to GnRH deficiency and anosmia. Both CHH and KS are oligogenic disorders, with the underlying genetic mutations only explained in 50% of the clinical cases.At the heart of this study, we have undertaken a full characterisation of the GnRH migratory process during the first trimester of gestation in a large series of human embryos and foetuses and provide the first chronological and quantitative atlas of GnRH distribution. This has been aided by the novel application of organic solvent based tissue clearing techniques to human embryological tissue. This allows, for the first time, a true representation and appreciation of cells in their native, in vivo context. The results of this study have revealed not only that the number of GnRH neurons in humans is significantly higher than previously thought, but that GnRH cells migrate into several extrahypothalamic brain regions in addition to the hypothalamus. Their presence in these areas raises the possibility that GnRH has non-reproductive roles, creating new avenues for research on GnRH functions in cognitive, behavioural and physiological processes.The second aim of this work has been to characterise a novel candidate gene responsible for the development of the GnRH system. Anti-Müllerian hormone (AMH), best known for its role in facilitating the differentiation of the bipotential gonad in males, has recently been shown by our lab to exert significant effects on GnRH neurons postnatally. Here we have undertaken whole exome sequencing of a large cohort of European CHH and KS patients, identifying several novel missense mutations in the Amh gene that are not present in the control cohort. Various in vitro and biochemical analyses of mutations bioactivity as well as analysis of a transgenic mouse line have been used to assess the functional relevance of these mutations.Mutations in Amh resulted in impaired secretion of AMH and reduced bioactivity of the secreted protein in in vitro studies; eventually leading to reduced migratory capacity. This strongly suggests that these mutations could have a pathogenic effect. We also show that its receptor AMHR2 is expressed along the olfactory fibres and by GnRH neurons during the GnRH migratory process. Pathohistological analysis of Amhr2-/- mice revealed defective embryonic migration of GnRH cells to the basal forebrain, leading to a significant reduction in the total number of GnRH neurons in the adult brains of these animals resulting in reduced fertility. We therefore propose that AMH signalling insufficiency contributes to the pathogenesis of human CHH conditions and highlights a novel role for AMH in the correct development and function of GnRH neurons.
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The housing experience of Hispanic immigrants: the case of Finney, KansasBerhanemeskel, Erebecca January 1900 (has links)
Doctor of Philosophy / Department of Architecture, Planning & Design / John W. Keller / Some parts of rural America are experiencing unprecedented demographic and cultural changes as immigrant settlement patterns shift from traditional gateway cities to rural regions that have enticing economic opportunities. In particular, southwest Kansas has become a magnet for immigrant workers and their families. Between 2007 and 2008, Finney County became a majority-minority county (Callebs, 2009). However, lack of affordable housing and limited housing stock has strained communities and become an obstacle for newly settling immigrants (Stull, 2011). This study aims to redress the limited research on immigrants in rural regions and focuses specifically on the cultural experiences of Finney County Hispanic immigrants regarding integration into the local housing community.
This qualitative case study is designed using the housing career framework (Murdie, 2002) to capture the factors that influence the housing experience of Hispanic immigrants. The 25 participants were recruited using snowball sampling and convenience sampling techniques. Based on the participant’s language preference, the in-depth interviews were conducted in English or Spanish. This study has found that the mission of community planning has to be a multifaceted process to address the varied needs of immigrant families. Community planners and policy makers can use the information this study provides to better serve the immigrant Hispanic community, which is expected to grow over the coming years.
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Exploring the topological patterns of urban street networks from analytical and visual perspectivesJunjun, Yin January 2009 (has links)
<p>Research interests in the studies of complex systems have been booming in many disciplines for the last decade. As the nature of geographic environment is a complex system, researches in this field are anticipated. In particular, the urban street networks in the Geographic Information System (GIS) as complex networks are brought forth for the thesis study. Meanwhile, identifying the scale-free property, which is represented as the power law distribution from a mathematical perspective, is a hot topic in the studies of complex systems. Many previous studies estimated the power law distributions with graphic method, which used linear regression method to identify the exponent value and estimate the quality that the power law fits to the empirical data. However, such strategy is considered to cause inaccurate results and lead to biased judgments. Whereas, the Maximum Likelihood Estimation (MLE) and the Goodness of fit test based on Kolmogorov-Smironv (KS) statistics will provide more solid and trustable results for the estimations. Therefore, this thesis addresses these updated methods exploring the topological patterns of urban street networks from an analytical perspective, which is estimating the power law distributions for the connectivity degree and length of the urban streets. Simultaneously, this thesis explores the street networks from a visual perspective as well. The visual perspective adopts the large network visualization tool (LaNet-vi), which is developed based on the k-core decomposition algorithm, to analyze the cores of the urban street networks. By retrieving the spatial information of the networks from GIS, it actually enables us to see how the urban street networks decomposed topologically and spatially. In particular, the 40 US urban street networks are reformed as natural street networks by using three "natural street" models.</p><p>The results from analytical perspective show that the 80/20 principle still exists for both the street connectivity degree and length qualitatively, which means around 20% natural streets in each network have a connectivity degree or length value above the average level, while the 80% ones are below the average. Moreover, the quantitative analysis revealed the fact that most of the distributions from the street connectivity degree or length of the 40 natural street networks follow a power law distribution with an exponential cut-off. Some of the rest cases are verified to have power law distributions and some extreme cases are still unclear for identifying which distribution form to fit. The comparisons are made to the power law statement from previous study which used the linear regression method. Moreover, the visual perspective not only provides us the chance to see the inner structures about the hierarchies and cores of the natural street networks topologically and spatially, but also serves as a reflection for the analytical perspective. Such relationships are discussed and the possibility of combining these two aspects are pointed out. In addition, the future work is also proposed for making better studies in this field.</p>
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Exploring the topological patterns of urban street networks from analytical and visual perspectivesJunjun, Yin January 2009 (has links)
Research interests in the studies of complex systems have been booming in many disciplines for the last decade. As the nature of geographic environment is a complex system, researches in this field are anticipated. In particular, the urban street networks in the Geographic Information System (GIS) as complex networks are brought forth for the thesis study. Meanwhile, identifying the scale-free property, which is represented as the power law distribution from a mathematical perspective, is a hot topic in the studies of complex systems. Many previous studies estimated the power law distributions with graphic method, which used linear regression method to identify the exponent value and estimate the quality that the power law fits to the empirical data. However, such strategy is considered to cause inaccurate results and lead to biased judgments. Whereas, the Maximum Likelihood Estimation (MLE) and the Goodness of fit test based on Kolmogorov-Smironv (KS) statistics will provide more solid and trustable results for the estimations. Therefore, this thesis addresses these updated methods exploring the topological patterns of urban street networks from an analytical perspective, which is estimating the power law distributions for the connectivity degree and length of the urban streets. Simultaneously, this thesis explores the street networks from a visual perspective as well. The visual perspective adopts the large network visualization tool (LaNet-vi), which is developed based on the k-core decomposition algorithm, to analyze the cores of the urban street networks. By retrieving the spatial information of the networks from GIS, it actually enables us to see how the urban street networks decomposed topologically and spatially. In particular, the 40 US urban street networks are reformed as natural street networks by using three "natural street" models. The results from analytical perspective show that the 80/20 principle still exists for both the street connectivity degree and length qualitatively, which means around 20% natural streets in each network have a connectivity degree or length value above the average level, while the 80% ones are below the average. Moreover, the quantitative analysis revealed the fact that most of the distributions from the street connectivity degree or length of the 40 natural street networks follow a power law distribution with an exponential cut-off. Some of the rest cases are verified to have power law distributions and some extreme cases are still unclear for identifying which distribution form to fit. The comparisons are made to the power law statement from previous study which used the linear regression method. Moreover, the visual perspective not only provides us the chance to see the inner structures about the hierarchies and cores of the natural street networks topologically and spatially, but also serves as a reflection for the analytical perspective. Such relationships are discussed and the possibility of combining these two aspects are pointed out. In addition, the future work is also proposed for making better studies in this field.
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A Comparison of Two Modeling Techniques in Customer Targeting For Bank TelemarketingTang, Hong 17 December 2014 (has links)
Customer targeting is the key to the success of bank telemarketing. To compare the flexible discriminant analysis and the logistic regression in customer targeting, a survey dataset from a Portuguese bank was used. For the flexible discriminant analysis model, the backward elimination of explanatory variables was used with several rounds of manual re-defining of dummy variables. For the logistic regression model, the automatic stepwise selection was performed to decide which explanatory variables should be left in the final model. Ten-fold stratified cross validation was performed to estimate the model parameters and accuracies. Although employing different sets of explanatory variables, the flexible discriminant analysis model and the logistic regression model show equally satisfactory performances in customer classification based on the areas under the receiver operating characteristic curves. Focusing on the predicted “right” customers, the logistic regression model shows slightly better classification and higher overall correct prediction rate.
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Characterizing Subsurface Hydraulic Characteristics at Zhuoshui River Alluvial Fan, TaiwanWang, Yu-Li Eric, Wang, Yu-Li Eric January 2016 (has links)
The objective of this study is to estimate 2-D spatial distribution of hydraulic conductivity (Ks) of Zhuoshui River alluvial fan, Taiwan, using groundwater level data from 88 wells and stream stage data from 4 gauging stations. In order to accomplish this analysis, wavelet analysis is first carried out to investigate the periodic cycles of groundwater level, precipitation, and stream stage. The results of the analysis show that variations of groundwater level and stream stage are highly correlated in terms of seasonal and annual periods. Subsequently, seasonal variations of groundwater level in response to stream stage variation are utilized to estimate the Ks spatial distribution by spatiotemporal cross correlation analysis, cokriging, and river stage tomography. Prior to applications of these methods to the alluvial fan, performances of each approach are evaluated and compared with reference field of a noise free synthetic experiment. It is found that all of the approaches could yield similar general spatial pattern of Ks. Nevertheless, river stage tomography seems to reveal a higher resolution of spatial Ks distribution. When the geologic zones are provided in river stage tomography analysis as prior information, the accuracy of estimated Ks values improves. Finally, results of the applications to data of the alluvial fan reveal that the apex and southeast of the alluvial fan are regions with relative high Ks and the Ks values gradually decrease toward the shoreline of the fan. These two areas are considered as the possible main recharge regions of the aquifer. It is also observed that Ks at northern alluvial fan is slightly larger than that at southern. These findings seem consistent with the geologic evolution of this alluvial fan.
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