Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia

Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2%. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.

Grass-endophyte coevolution and ploidy levels in fescues

ABSTRACT Fescues consist of wild and cultivated grasses that have adapted to a wide range of environmental conditions. They are an excellent model species for evolutionary ecology studies that investigate symbiosis and polyploidization and their effects on plant performance. First, they are frequently infected with symbiotic endophytic fungi known to affect a plant’s ability to cope with biotic and abiotic environmental factors. Second, fescue species have been reported to have substantial intraspecific variation in their ploidy level and morphology. In my thesis, I examined large-scale generalizations for frequency of polyploidy and endophyte infections and their effects on plant morphology. As a model species, I selected red (Festuca rubra) and viviparous sheep’s (F. vivipara) fescues. They are closely related, but they differ in terms of distribution and endophyte infection frequency. I investigated the biogeographic pattern and population biology of 29 red and 12 viviparous sheep’s fescue populations across ≈300 latitudes in Europe (400-690 N). To examine plant ploidy levels, I implemented time- and cost-efficient plate-based high throughput flow cytometric analysis. This efficient procedure enabled me to analyze over 1000 red fescue individuals. I found three ploidy levels among them: overall 84 %, 9 % and 7 % of the red fescue plants were hexaploid, tetraploid and octoploid, respectively. However, all viviparous sheep’s fescue plants were tetraploid. Ploidy level of red fescue appeared to some extent follow gradients in latitude and primary production as suggested by previous studies, but these results could be explained better by taking the sampling design and local adaptation into account. Three Spanish populations were mostly tetraploids and one high elevation population in northernmost Finland (Halti) was octoploid, while most other populations (25 sites) were dominated by hexaploids. Endophyte infection frequencies of wild fescue populations varied from 0 to 81 % in red fescue populations and from 0 to 30 % in viviparous sheep’s fescue populations. No gradients with latitude or primary production of the sites were detected. As taxonomy of red fescues is somewhat unclear, I also studied morphology, ploidy variation and endophyte status of proposed subspecies of European red fescues. Contrary to previous literature, different ploidy levels occurred in the same subspecies. In addition to wild fescues, I also used two agronomically important cultivars of meadow and tall fescue (Schedonorus phoenix and S. pratensis). As grass-legume mixtures have an agronomic advantage over monocultures in meadows, I carried out a mixture/competition experiment with fescues and red clover to find that species composition, nutrient availability and endophyte status together determined the total biomass yield that was higher in mixtures compared to monocultures. The results of this thesis demonstrate the importance of local biotic and abiotic factors such as grazing gradients and habitat types, rather than suggested general global geographical or environmental factors on grass polyploidization or its association with symbiotic endophytic fungi. I conclude that variation in endophyte infection frequencies and ploidy levels of wild fescues support the geographic mosaic theory of coevolution. Historical incidents, e.g., glaciation and present local factors, rather than ploidy or endophyte status, determine fescue morphology.

Exploring multiracial/cultural identities through mothers' voices /

This study explored the experiences of mothers of multiracial/cultural children within the context of family, school, and community. Three categories of mothers of multiracial/cultural children were interviewed privately and then invited to meet as a group to explore some of their reflections and experiences. The categories consisted of 4 mothers with multiracial/cultural children presently attending elementary school, 2 mothers of multiracial/cultural children who are now adults and 3 mothers from my own multiracial/cultural family. The study explored the researcher's personal quest for a multiracial/cultural identity and combined interviews with her daughter, her sister, and her mother to reveal the multiracial/cultural experience from a personal perspective. Content analysis of the narratives revealed that multiracial/cultural children produce their own culture and establish new and personally relevant priorities as they develop their self-identities. Findings further indicated that present-day, mainstream mothers from the dominant majority group of Canadians, tell a different story than similar mothers of previous cohorts, and that although sociopolitical and economic changes have influenced the experiences ofthese women, their stories remain remarkably similar across racial and cultural lines. The findings from this study may promote the development of multicultural programs in Canada as they offer both prospects and challenges to multiracial/cultural children and multicultural educators. It is hoped that this study will provide a better understanding of multiculturalism and encourage educators to heighten their racial and cultural awareness as they strive to critically examine their own cultural stories and realign their praxis within the evolving Canadian mosaic.

Far infrared reflectance and optical properties of organic superconductor (TMTSF)2ClO4 /

Polarized reflectance measurements of the quasi I-D charge-transfer salt (TMTSFh CI04 were carried out using a Martin-Puplett-type polarizing interferometer and a 3He refrigerator cryostat, at several temperatures between 0.45 K and 26 K, in the far infrared, in the 10 to 70 cm- 1 frequency range. Bis-tetramethyl-tetraselena-fulvalene perchlorate crystals, grown electrochemically and supplied by K. Behnia, of dimensions 2 to 4 by 0.4 by 0.2 mm, were assembled on a flat surface to form a mosaic of 1.5 by 3 mm. The needle shaped crystals were positioned parallel to each other along their long axis, which is the stacking direction of the planar TMTSF cations, exposing the ab plane face (parallel to which the sheets of CI04 anions are positioned). Reflectance measurements were performed with radiation polarized along the stacking direction in the sample. Measurements were carried out following either a fast (15-20 K per minute) or slow (0.1 K per minute) cooling of the sample. Slow cooling permits the anions to order near 24 K, and the sample is expected to be superconducting below 1.2 K, while fast cooling yields an insulating state at low temperatures. Upon the slow cooling the reflectance shows dependence with temperature and exhibits the 28 cm- 1 feature reported previously [1]. Thermoreflectance for both the 'slow' and 'fast' cooling of the sample calculated relative to the 26 K reflectance data indicates that the reflectance is temperature dependent, for the slow cooling case only. A low frequency edge in the absolute reflectance is assigned an electronic origin given its strong temperature dependence in the relaxed state. We attribute the peak in the absolute reflectance near 30 cm-1 to a phonon coupled to the electronic background. Both the low frequency edge and the 30 cm-1 feature are noted te shift towards higher frequcncy, upon cntering the superconducting state, by an amount of the order of the expected superconducting energy gap. Kramers-Kronig analysis was carried out to determine the optical conductivity for the slowly cooled sample from the measured reflectance. In order to do so the low frequency data was extrapolated to zero frequency using a Hagen-Ru bens behaviour, and the high frequency data was extended with the data of Cao et al. [2], and Kikuchi et al. [3]. The real part of the optical conductivity exhibits an asymmetric peak at 35 cm-1, and its background at lower frequencies seems to be losing spectral weight with lowering of the temperature, leading us to presume that a narrow peak is forming at even lower frequencies.

Far infrared spectroscopy of heavy fermion superconductor CeCoIn5

The optical response to far infrared radiation has been measured on a mosaic of heavy fermion CeColnssingle crystals. The superconducting transition temperature of the crystals has been determined by van der Pauw resistivity and ac-susceptibility measurements as Tc = 2.3 K. The optical measurements were taken above and below the transition temperature using a 3He cryostat and step and integrate Martin-Puplett type polarizing interferometer. The absolute reflectance of the heavy fermion CeColns in the superconducting state in range (0, 100)cm-1 was calculated from the measured thermal reflectance, using the normal state data of Singley et al and a low frequency extrapolation for a metallic material in the Hagen-Rubens regime. By means of Kramers-Kronig analysis the absolute reflectance was used to calculate the optical conductivity of the sample. The real part of the calculated complex conductivity 0-(w) ofCeColns indicates a possible opening of an energy gap close to 50 em-I.

The sedimentology of the Bloomington fan complex: an element of the Oak Ridges Moraine, Southern Ontario

The Oak Ridges Moraine is a major physiographic feature of south-central Ontario, extending from Rice Lake westward to the Niagara Escarpment. While much previous work has largely postulated a relatively simple the origin of the moraine, recent investigations have concentrated on delineating the discernible glacigenic deposits (or landform architectural elements) which comprise the complex mosaic of the Oak Ridges Moraine. This study investigates the sedimentology of the Bloomington fan complex, one of the oldest elements of the Oak Ridges Moraine. The main sediment body of the Bloomington fan complex was deposited during early stages of the formation of the Oak Ridges Moraine, when the ice subdivided, and formed a confined, interlobate lake basin between the northern and southern lobes. Deposition from several conduits produced a fan complex characterized by multiple, laterally overlapping, fan bodies. It appears that the fans were active sequentially in an eastward direction, until the formation of the Bloomington fan complex was dominated by the largest fan fed by a conduit near the northeastern margin of the deposit. Following deposition of the fan complex, the northern and southern ice margins continued to retreat, opening drainage outlets to the west and causing water levels to drop in the lake basin. Glaciofluvial sediment was deposited at this time, cutting into the underlying fan complex. Re-advancing northern ice then closed westerly outlets, and caused water levels to increase, initiating the re-advance of the southern ice. As the southern ice approached the Bloomington fan, it deposited an ice-marginal sediment complex consisting of glacigenic sediment gravity flows, and glaciolacustrine and glaciofluvial sediments exhibiting north and northwesterly paleocurrents. Continued advance of the southern ice, overriding the fan complex, ii produced large-scale glaciotectonic deformation structures, and deposited the Halton Till. The subaqueous fan depositional model that is postulated for the Bloomington fan complex differs from published models due to the complex facies associations produced by the multiple conduit sources of sediment feeding the fans. The fluctuating northern and southern ice margins, which moved across the study area in opposite directions, controlled the water level in the interlobate basin and caused major changes in depositional environments. The influence of these two lobes also caused deposition from two distinct source directions. Finally, erosion, deposition, and deformation of the deposit with the readvance of the southern ice contributed further to the complexity of the Bloomington fan complex.

Far infrared spectroscopy of heavy fermion superconductor CeCoIn5 /

The optical response to far infrared radiation has been measured on a mosaic of heavy fermion CeCoIns single crystals. The superconducting transition temperature of the crystals has been determined by van der Pauw resistivity and ac-susceptibility measurements as Tc = 2.3 K. The optical measurements were taken above and below the transition temperature using a ^He cryostat and step and integrate Martin-Puplett type polarizing interferometer. The absolute reflectance of the heavy fermion CeCoIns in the superconducting state in range (0, 100)cm~^ was calculated from the measured thermal reflectance, using the normal state data of Singley et al and a low frequency extrapolation for a metallic material in the Hagen-Rubens regime. By means of Kramers-Kronig analysis the absolute reflectance was used to calculate the optical conductivity of the sample. The real part of the calculated complex conductivity a{u)) of CeCoIns indicates a possible opening of an energy gap close to 50 cm~^.

"The whole earth as village" : a chronotopic analysis of Marshall McLuhan's "Global Village" and Patrick McGoohan's The Prisoner

Marshall McLuhan's "global village", and his theories on communications and technology, in conjunction with Patrick McGoohan's television series The Prisoner (ATV, 1967-1968) are explored in this thesis. The Prisoner, brainchild of McGoohan, is about the abduction and confinement of a British government agent imprisoned within the impenetrable boundaries of a benign but totalitarian city -state called "The Village". The purpose of his abduction and imprisonment is for the extraction of information regarding his resignation as a government spy. Marshall McLuhan originally popularized the phrase "the global village" in The Gutenberg Galaxy: The Making o/the Topographic Man (1962), asserting that, "The new electronic interdependence recreates the world in the image of a global village" (p. 31). This thesis argues that valid parallels exist between McGoohan's conception of "village", as manifested in The Prisoner, and McLuhan's global village. The comprehensive methodological stratagem for this thesis includes Marshall McLuhan's "mosaic" approach, Mikhail Bakhtin's concept ofthe "chronotope", as well as a Foucauldian genealogicallhistorical discourse analysis. In the process of deconstructing McLuhan's texts and The Prisoner as products of the 1960s, an historical "constellation" (to use Walter Benjamin's concept) of the same present has been executed. By employing this synthesized methodology, conjunctions have been made between McLuhan's theories and the series' main themes of bureaucracy as dictatorship, the perversion of science and technology, freedom as illusion, and the individual in opposition to the collective. A thorough investigation of the global village and The Prisoner will determine whether or not Marshall McLuhan and/or Patrick McGoohan visualize the village as an enslaving technological reality.

Canadian Willite advertisement, ca. 1920.

Consists of an advertising broadsheet (circa 1920) for Canadian Willite, a permanent asphaltic pavement. This product was used on River Road in Niagara Falls, Canada. The broadsheet features a segment titled "The Road Fit for a Prince" about the Prince of Wales visit to Niagrara Falls on October 20, 1919.

Ribbed moraines and subglacial geomorphological signatures of interior-sector palaeo-ice sheet dynamics

Transverse, subglacial bedforms (ribbed moraines) occur frequently in southern Keewatin, Nunavut, Canada, where they record a complex glacial history, including shifting centers of ice dispersal and fluctuating basal thermal regimes. Comprehensive mapping and quantitative morphometric analysis of the subglacial bedform archive in this sector reveals that ribbed moraines are spatially clustered by size and assume a broad range of visually distinct forms. Results suggest that end-member morphologies are consistent with a dichotomous polygenetic origin, and that a continuum of forms emerged through subsequent reshaping processes of variable intensity and duration. Translocation of mobile, immobile and quasi-mobile beds throughout the last glacial cycle conditioned the development of a subglacial deforming bed mosaic, and is likely responsible for the patchy zonation of palimpsest and inherited landscape signatures within this former core region of the Laurentide Ice Sheet. Comparison against field evidence collected from central Norway suggests that bedforming processes can be locally mediated by pre-existing topography.

L'intermédialité littéraire dans quelques récits d'Assia Djebar

Le parcours d’Assia Djebar est frappé du sceau de la multidisciplinarité. L’écrivaine algérienne d’expression française a en effet toujours voué un intérêt particulier à la littérature, mais également aux arts. Son engouement pour ces derniers n’a pas été sans influencer son écriture. Ce fait est a priori remarquable au niveau des nombreuses références explicites (tant intertextuelles qu’interdiscursives) que ses récits font tour à tour au cinéma, à la peinture, à la musique, à la photographie et à la mosaïque. C’est à partir de ces renvois que nous posons l’hypothèse d’une relation aux arts mise à l’œuvre de manière plus implicite dans la prose de Djebar, c’est-à-dire susceptible de définir sa poétique. Il s’agira donc pour nous de mettre au jour des procédés d’écriture qui, dans le récit djebarien, sont aptes à créer ─ moyennant leur déplacement et leur transformation ─ des effets que des techniques en usage dans d’autres arts produisent habituellement. L’intermédialité permet d’envisager ce travail : là où l’intertextualité insiste surtout sur la question des textes ; l’interdiscursivité sur celle du discours ; et l’interartialité sur celle de l’esthétique caractéristique des productions artistiques, l’intermédialité rassemble ces préoccupations en ne négligeant pas de considérer la dimension technique inhérente aux phénomènes de signification, qui prête forme à leur matière sémiotique.

Distances, rencontres, communications : les défis de la concorde dans l'Empire carolingien

À l’aube du IXe siècle, les Carolingiens prétendent imposer à l’Occident l’unité dans la foi et le culte. Cet idéal domine les pensées des empereurs qui se conçoivent comme protecteurs, législateurs et juges, mais aussi vicaires du Christ et recteurs de l’Église. De telles ambitions stimulent l’élaboration d’un gouvernement original. Comme les conquêtes avaient composé une vaste mosaïque de populations, de cultures et d’intérêts, la concorde posait un grand défi. Pour y répondre, Charlemagne et Louis le Pieux ont fait des communications leur premier outil politique. Leur inventivité et leur efficience furent appréciables, mais elles n’ont pas suffi à leur gagner toutes les adhésions : la discorde s’est installée là où l’empereur ne parvenait pas à maintenir une relation forte avec les élites régionales. Les distances et les modalités des communications déterminaient la nature de leurs échanges, donc leurs limites et, de ce fait, le destin de l’Empire carolingien. L’enquête aborde un vaste éventail documentaire : actes, capitulaires, correspondances, monnaies... Elle s’intéresse particulièrement aux relations du pouvoir impérial avec les élites du sud-ouest de l’empire. Ses résultats dépendent d’un étayage complexe : dispositifs de représentation du pouvoir, conséquences politico-sociales des distances et des vitesses de déplacement, anthropologie de la rencontre et des relations à distance, étude des réseaux. Au-delà des considérations propres à l’histoire des VIIIe-IXe siècles, elle démontre l’intérêt d’aborder les réalités politiques prémodernes du point de vue des défis que présentent les distances géographiques, les rencontres et les communications.

Les représentations chrétiennes et la culture juive dans l'art pictural moderne : le cas de Marc Chagall

Pour respecter les droits d’auteur, la version électronique de ce mémoire a été dépouillée de ses documents visuels et audio‐visuels. La version intégrale du mémoire a été déposée au Service de la gestion des documents et des archives de l'Université de Montréal.

Exclusion de liaison génétique au locus SPAX2 de cas canadiens-français d’ataxie spastique

Les ataxies héréditaires sont des désordres neuro-dégénératifs qui causent une ataxie comme symptôme primaire; soit une perte de coordination des mouvements volontaires, un sens de l’équilibre déficient et un trouble à la motricité. Elles forment un groupe cliniquement et génétiquement hétérogène. De ce fait, de nombreuses classifications existent basées sur différents critères. Cependant, le consensus actuel veut que le mode de transmission soit le critère premier de classement. On estime la prévalence mondiale des ataxies héréditaires à 6/100 000 bien que ce nombre diffère entre régions. C’est le cas du Québec où la structuration historique du bassin génétique canadien-français a menée à des effets fondateurs régionaux, ce qui a eu comme conséquence de hausser la prévalence régionale de certaines maladies. L’Acadie est également une région canadienne-française avec des effets fondateurs où le taux de prévalence de certaines ataxies héréditaires est plus élevé. Nous avons recruté huit familles canadiennes-françaises provenant de diverses régions du Québec, ayant un lien génétique plus ou moins rapproché avec l’Acadie, dans lesquelles nous avons observé dix cas d’une forme d’ataxie spastique autosomique récessive relativement légère qui a résistée à l’analyse des gènes d’ataxies connues. Nous avons émis l’hypothèse d’être en présence d’une nouvelle forme d’ataxie à effet fondateur pour la population canadienne-française. Afin d’identifier le gène muté responsable de cette ataxie, un criblage génomique des marqueurs SNP pour les individus recrutés fut effectué. Puis, par cartographie de l’homozygotie, une région de 2,5 Mb fut identifiée sur le chromosome 17p13 dans une famille. Une revue de la littérature nous a permis de constater, qu’en 2007, quatre familles nord-africaines atteintes d’une ataxie dénommée SPAX2 qui présentaient des manifestations cliniques semblables avaient déjà été liées au même locus sur le chromosome 17. Afin de supporter notre hypothèse que les malades étaient porteurs de deux copies de la même mutation fondatrice et de cartographier plus finement notre région d’intérêt, les haplotypes de tous les atteints de nos huit familles furent étudiés. Nous avons établie qu’un intervalle de 200 kb (70 SNP), soit du marqueur rs9900036 à rs7222052, était partagé par tous nos participants. Les deux gènes les plus prometteurs des 18 se trouvant dans la région furent séquencés. Aucune mutation ne fut trouvée dans les gènes SLC25A11 et KIF1C. Par la suite, une analyse de liaison génétique stricte avec calcul de LOD score nous a permis d’exclure ce locus de 200 kb comme étant celui porteur du gène muté causant l’ataxie dans la majorité de nos familles. Nous avons donc conclus que malgré qu’une famille soit homozygote pour une grande région du chromosome 17, l’absence d’Informativité des marqueurs SNP dans la région de 200 kb fut responsable de l’apparent partage d’haplotype homozygote. Le travail reste donc entier afin d’identifier les mutations géniques responsables de la présentation ataxique chez nos participants de souche acadienne.

L’encadrement juridique des biobanques populationnelles et leurs obligations au Québec

La mise en banque d’échantillons humains et de données connexes n’est pas une pratique récente. Toutefois, dans les dernières décennies, ce phénomène a pris une ampleur sans précédent avec la création des biobanques populationnelles. Défini comme étant des infrastructures de recherche conçues pour durer plusieurs décennies, ce type de biobanques invite des milliers et, dans certains cas, des centaines de milliers de personnes à y participer en fournissant des échantillons, en se soumettant à des tests physiques et biochimiques, et en répondant à diverses questions sur leur santé et leur environnement sociodémographique. Mais quelles sont les obligations des biobanques et de leurs chercheurs face aux participants? Considérant leur longue durée, quel est l’encadrement juridique de ces biobanques populationnelles au Québec? Ce sont les deux questions que pose ce mémoire. Quant à l’encadrement, nous utilisons trois axes d’analyse : i) les lois, les règlements, la déontologie professionnelle et les normes applicables; ii) la qualification juridique de l’acte de mise en banque d’échantillons et de données; et iii) les obligations découlant de la nature même de l’objet de la relation juridique. Notre analyse révèle que cet encadrement est une mosaïque législative, contractuelle, déontologique et normative qui, malgré ses complexités et ses défis d’accessibilité pour les participants, assure une certaine protection pour ces derniers. Quant aux obligations incombant à la biobanque et à ses chercheurs, elles sont pour la majorité teintées par des caractéristiques particulières aux biobanques populationnelles. Ainsi, il existe des défis particuliers en ce qui concerne notamment le consentement, le devoir d’information, le retour de résultats et la sécurité des échantillons et des données. Étant donné la nature évolutive de ces obligations, nous proposons une approche basée sur le meilleur intérêt du participant pour déterminer la nature et l’intensité des obligations incombant à une biobanque et à ses chercheurs.