435 resultados para Tório
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Mode of access: Internet.
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[Michiganensian caption: "If this trio is any indication, a bright future is in store for the wolverine track-men. From left to right is half-miler Bob Thomason, miler Justin Williams, and hurdler Clay Holland, all of whom are returning next year.]
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Little is known about the general biology of minisatellites. The purpose of this study is to examine repeat mutations from the D1S80 minisatellite locus by sequence analysis to elucidate the mutational process at this locus. This is a highly polymorphic minisatellite locus, located in the subtelomeric region of chromosome 1. We have analyzed 90,000 human germline transmission events and found seven (7) mutations at this locus. The D1S80 alleles of the parentage trio, the child, mother, and the alleged father were sequenced and the origin of the mutation was determined. Using American Association of Blood Banks (AABB) guidelines, we found a male mutation rate of 1 . 0 4 × 1 0− 4 and a female mutation rate of 5 . 1 8 × 1 0− 5 with an overall mutation rate of approximately 7 . 7 7 × 1 0− 5. Also, in this study, we found that the identified mutations are in close proximity to the center of the repeat array rather than at the ends of the repeat array. Several studies have examined the mutational mechanisms of the minisatellites according to infinite allele model (IAM) and the one-step stepwise mutation model (SMM). In this study, we found that this locus fits into the one-step mutation model (SMM) mechanism in six out of seven instances similar to STR loci.
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MELO, D. M. A. et al. Synthesis and charactezarion of lanthanum and yttrium doped Fe2O3 pigments. Cerâmica, São Paulo, v. 53, p. 79-82, 2007.
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Cette thèse présente l’analyse des propos de trois générations de femmes réfugiées au Québec sur les manières dont ces femmes s’exposent, s’identifient et s’approprient le discours des médias pour ensuite en discuter entre elles. L’analyse permet de cerner certaines de leurs pratiques d’insertion et d’adaptation à un nouveau milieu de vie. L’immigration favorise de plus en plus l’éclosion des « cultures de la mixité », lesquelles représentent un enjeu incontournable en matière d’intégration. Quant aux médias, ils sont une source incontournable d’accès à l’information et à la culture. Le développement des techniques de transmission telles les réseaux câblés, le satellite de diffusion directe, Internet et le numérique permet au consommateur de médias, quel que soit son origine, de s’approprier de façon personnelle les produits culturels qui en retour déterminent la participation à la vie active dans la société hôte. Cette nouvelle intégration culturelle se transmet-elle aisément au sein des générations d’immigrantes? Cette thèse découle aussi d’un projet plus vaste sur les transmissions intergénérationnelles des savoirs, des pratiques et de l’entraide entre trois générations de femmes réfugiées au Québec (Vatz Laroussi, Guilbert & al. CRSH, 2009-2012). Étudier les transmissions de savoirs au sein des familles immigrantes, c’est reconnaitre avec les auteurs contemporains l’importance de la transmission et de la circulation des histoires personnelles s’inscrivant dans une histoire familiale et sociale de l’époque a méthodologie adoptée s’appuie sur les entretiens semi-directifs, le commentaire réflexif ainsi que l’analyse de contenu. La démarche méthodologique a été empruntée au projet principal. Les entretiens réalisés auprès des familles de réfugiés établis dans plusieurs régions du Québec (Sherbrooke, Joliette, Québec et Montréal) ont été réalisés par une équipe pluridisciplinaire, multiculturelle et féminine. L’originalité de cette recherche se trouve entre autres dans la collecte d’information qui s’est faite auprès de trios générationnels (grand-mère, mère et fille). Chaque membre du trio a été rencontré de façon individuelle et par la suite, le trio s’est formé pour une dernière entrevue de groupe. Ainsi, une analyse thématique des discours des répondants a été réalisée. Cette analyse a permis de mettre en perspective divers éléments proéminents relatifs à la relation entre les médias et chaque membre du trio générationnel. Il a été constaté que les médias sont appréhendés différemment par chaque membre du trio, que des médias comme la télévision et l’Internet sont les plus prisés par les jeunes et ils servent à la fois de fenêtre sur le pays d’accueil, d’ouverture sur le monde et d’expression de soi-même face aux frustrations vécues au Québec. En dernier lieu, une analyse de la question de la transmission intergénérationnelle au prisme des médias entre les trois générations de femme réfugiée a été faite. On constate que dans les trios, la transmission n’est pas unidirectionnelle. Elle va dans tous les sens. Sortant des sentiers battus elle devient un espace de création.
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MELO, D. M. A. et al. Synthesis and charactezarion of lanthanum and yttrium doped Fe2O3 pigments. Cerâmica, São Paulo, v. 53, p. 79-82, 2007.
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The main objective of this dissertation is the development and processing of novel ionic conducting ceramic materials for use as electrolytes in proton or oxide-ion conducting solid oxide fuel cells. The research aims to develop new processing routes and/or materials offering superior electrochemical behavior, based on nanometric ceramic oxide powders prepared by mechanochemical processes. Protonic ceramic fuel cells (PCFCs) require electrolyte materials with high proton conductivity at intermediate temperatures, 500-700ºC, such as reported for perovskite zirconate oxides containing alkaline earth metal cations. In the current work, BaZrO3 containing 15 mol% of Y (BZY) was chosen as the base material for further study. Despite offering high bulk proton conductivity the widespread application of this material is limited by its poor sinterability and grain growth. Thus, minor additions of oxides of zinc, phosphorous and boron were studied as possible sintering additives. The introduction of ZnO can produce substantially enhanced densification, compared to the un-doped material, lowering the sintering temperature from 1600ºC to 1300ºC. Thus, the current work discusses the best solid solution mechanism to accommodate this sintering additive. Maximum proton conductivity was shown to be obtained in materials where the Zn additive is intentionally adopted into the base perovskite composition. P2O5 additions were shown to be less effective as a sintering additive. The presence of P2O5 was shown to impair grain growth, despite improving densification of BZY for intermediate concentrations in the range 4 – 8 mol%. Interreaction of BZY with P was also shown to have a highly detrimental effect on its electrical transport properties, decreasing both bulk and grain boundary conductivities. The densification behavior of H3BO3 added BaZrO3 (BZO) shows boron to be a very effective sintering aid. Nonetheless, in the yttrium containing analogue, BaZr0.85Y0.15O3- (BZY) the densification behavior with boron additives was shown to be less successful, yielding impaired levels of densification compared to the plain BZY. This phenomenon was shown to be related to the undesirable formation of barium borate compositions of high melting temperatures. In the last section of the work, the emerging oxide-ion conducting materials, (Ba,Sr)GeO3 doped with K, were studied. Work assessed if these materials could be formed by mechanochemical process and the role of the ionic radius of the alkaline earth metal cation on the crystallographic structure, compositional homogeneity and ionic transport. An abrupt jump in oxide-ion conductivity was shown on increasing operation temperature in both the Sr and Ba analogues.
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The strong progress evidenced in photonic and optoelectronic areas, accompanied by an exponential development in the nanoscience and nanotechnology, gave rise to an increasing demand for efficient luminescent materials with more and more exigent characteristics. In this field, wide band gap hosts doped with lanthanide ions represent a class of luminescent materials with a strong technological importance. Within wide band gap material, zirconia owns a combination of physical and chemical properties that potentiate it as an excellent host for the aforementioned ions, envisaging its use in different areas, including in lighting and optical sensors applications, such as pressure sensors and biosensors. Following the demand for outstanding luminescent materials, there is also a request for fast, economic and an easy scale-up process for their production. Regarding these demands, laser floating zone, solution combustion synthesis and pulsed laser ablation in liquid techniques are explored in this thesis for the production of single crystals, nanopowders and nanoparticles of lanthanides doped zirconia based hosts. Simultaneously, a detailed study of the morphological, structural and optical properties of the produced materials is made. The luminescent characteristics of zirconia and yttria stabilized zirconia (YSZ) doped with different lanthanide ions (Ce3+ (4f1), Pr3+ (4f2), Sm3+ (4f5), Eu3+ (4f6), Tb3+ (4f8), Dy3+ (4f9), Er3+ (4f11), Tm3+ (4f12), Yb3+ (4f13)) and co-doped with Er3+,Yb3+ and Tm3+,Yb3+ are analysed. Besides the Stokes luminescence, the anti- Stokes emission upon infrared excitation (upconversion and black body radiation) is also analysed and discussed. The comparison of the luminescence characteristics in materials with different dimensions allowed to analyse the effect of size in the luminescent properties of the dopant lanthanide ions. The potentialities of application of the produced luminescent materials in solid state light, biosensors and pressure sensors are explored taking into account their studied characteristics.
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Doutoramento em Ciência e Engenharia dos Materiais
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The paper discusses the Polish presidency of the EU Council in terms of its priorities. It analyzes the circumstances of their formulation, selection and implementation. The authors answer the question of what influenced the selection of Poland’s priorities and what selection mechanisms were applied. Additionally, they examine how the national agenda was ‘concealed’ in Community rhetoric. Thus, the analytical part discusses the political and legal path that determined the priorities. The EU agenda, Polish ambitions and the context of the trio is also presented. The paper concludes with the authors’ assessment of the implementation of the priorities.
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In this issue...M Day, Copper Guards, Spring Football, Student Wives, Ray Braun, Summer Winds Trio, World War II, Kangaroo Court, ASMT
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Este relatório foi elaborado no âmbito do estágio curricular do Mestrado Integrado em Medicina Veterinária. Encontra-se dividido em duas partes. Na primeira parte é feita uma análise da casuística seguida durante o estágio. A segunda parte é constituída por uma monografia de revisão bibliográfica sobre o tema ”Tromboembolismo Arterial Felino”(TAF), bem como a descrição e discussão de dois casos clínicos acompanhados durante o estágio. O TAF é caracterizado pela embolização de um trombo numa artéria da circulação sistémica, sendo a localização mais frequente a trifurcação ilíaca da artéria aorta. Na maioria dos casos, o trombo tem origem no átrio esquerdo, como resultado de cardiomiopatia. Apesar do diagnóstico ser facilmente obtido através de sinais clínicos, o tratamento e a prevenção desta afeção representam um desafio para o médico veterinário, já que a taxa de reincidência de tromboembolismo e mortalidade são elevadas, projectando um prognóstico reservado; Clinic and Surgery of Small Animals Abstract: This report was done within the scope of the internship integrated master’s degree in Veterinay Medicine. It is divided in two parts. In the first part, an analisys of the casuistic followed during the internship is done. The second part is composed by a literature review about the theme ”Feline Arterial Thromboembolism”(FAT), as well as the description and discussion of two clinical cases followed during the internship. FAT is characterized by the embolization of a thrombus in a artery of systemic circulation, being its location more frequently in iliac trifurcation of aorta artery. On most of the cases the thrombus has its origins on the left atrium, as a result of cardiomyopathy. Besides the diagnosis being easily obtained through clinical signs, the treatment and prevention of this disease represents a challenge to the veterinarian clinician, due to the FAT recurrance rate and high mortality, projecting a pour/reserved prognosis.
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Autism Spectrum Disorder (ASD) is a heterogeneous and highly heritable neurodevelopmental disorder with a complex genetic architecture, consisting of a combination of common low-risk and more penetrant rare variants. This PhD project aimed to explore the contribution of rare variants in ASD susceptibility through NGS approaches in a cohort of 106 ASD families including 125 ASD individuals. Firstly, I explored the contribution of inherited rare variants towards the ASD phenotype in a girl with a maternally inherited pathogenic NRXN1 deletion. Whole exome sequencing of the trio family identified an increased burden of deleterious variants in the proband that could modulate the CNV penetrance and determine the disease development. In the second part of the project, I investigated the role of rare variants emerging from whole genome sequencing in ASD aetiology. To properly manage and analyse sequencing data, a robust and efficient variant filtering and prioritization pipeline was developed, and by its application a stringent set of rare recessive-acting and ultra-rare variants was obtained. As a first follow-up, I performed a preliminary analysis on de novo variants, identifying the most likely deleterious variants and highlighting candidate genes for further analyses. In the third part of the project, considering the well-established involvement of calcium signalling in the molecular bases of ASD, I investigated the role of rare variants in voltage-gated calcium channels genes, that mainly regulate intracellular calcium concentration, and whose alterations have been correlated with enhanced ASD risk. Specifically, I functionally tested the effect of rare damaging variants identified in CACNA1H, showing that CACNA1H variation may be involved in ASD development by additively combining with other high risk variants. This project highlights the challenges in the analysis and interpretation of variants from NGS analysis in ASD, and underlines the importance of a comprehensive assessment of the genomic landscape of ASD individuals.
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In the last decades a negative trend in inbreeding has accompanied the evident improvement in productivity and performance of bovine domestic population, predisposing to the occurrence of recessively inherited disorders. The objectives of this thesis were: a) the study of genetic diseases applying a “forward genetic approach” (FGA); b) the estimation of the prevalence of deleterious alleles responsible for eight recessive disorders in different breeds; c) the collection of well-characterized materials in a Biobank for Bovine Genetic Disorders. The FGA allowed the identification of seven new recessive deleterious variants (Paunch calf syndrome - KDM2B; Congenital cholesterol deficiency - APOB; Ichthyosis congenita - FA2H; Hypotrichosis - KRT71; Hypotrichosis - HEPHL1; Achromatopsia - CNGB3; Hemifacial microsomia – LAMB1) and of seven new de novo dominant deleterious variants (Achondrogenesis type II - two variants in COL2A1; Osteogenesis imperfecta - COL1A1; Skeletal-cardio-enteric dysplasia - MAP2K2; Congenital neuromuscular channelopathy - KGNG1; Epidermolysis bullosa simplex - KRT5; Classical Ehlers-Danlos syndrome - COL5A2) in different breeds, associated with a large spectrum of phenotypes affecting different systems. The FGA was based on the sequence of a clinical, genealogical, gross- and/or histopathological and genomic study. In particular, a WGS trio-approach (patient, dam and sire) was applied. The prevalence of deleterious alleles was calculated for the Pseudomyotonia congenita, Paunch calf syndrome, Hemifacial microsomia, Congenital bilateral cataract, Ichthyosis congenita, Ichthyosis fetalis, Achromatopsia and Hypotrichosis. A particular concern resulted the allelic frequency of 12% for the Paunch calf syndrome in Romagnola cattle. In respect to the Biobank for Bovine Genetic Diseases, biological materials of clinical cases and their available relatives as well as controls used for the allelic frequency estimations were stored at -20 °C. Altogether, around 16.000 samples were added to the biobank.
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Em 1930, Louis Wolff, John Parkinson e Paul Dudley White publicaram uma série de casos de pacientes com paroxismos de taquicardia cujo ECG basal mostrava um intervalo PR curto e um padrão de bloqueio de ramo. A síndrome de Wolff-Parkinson-White (WPW) acontece quando existem vias acessórias que promovem uma pré-excitação ventricular: fibras anormais, congênitas, conectam o átrio ou a junção AV ao ventrículo, fora do sistema His-Purkinje. O impulso elétrico será transmitido sem o retardo do NAV, e haverá um by-pass com ativação elétrica prematura do ventrículo. A pré-excitação ventricular determina três principais alterações no ECG: 1. Intervalo PR curto, menor do que 120 ms nos adultos ou 90 ms nas crianças; 2. QRS alargado (duração maior do que 120 ms), com um empastamento em sua porção inicial (onda delta) e porção final normal; tal padrão acontece por uma fusão entre a ativação inicial causada pela pré-excitação (com condução intraventricular lenta fibra a fibra) e a ativação final, pelo sistema especializado His-Purkinje. 3. Alterações secundárias do ST-T, geralmente opostas à polaridade da onda delta. Padrão de WPW vs. Síndrome de WPW: é importante diferenciar o padrão eletrocardiográfico de pré-excitação que acontece em indivíduos assintomáticos do diagnóstico da síndrome de WPW: a síndrome só existe quando, além do padrão descrito, há taquiarritmias sintomáticas. O padrão de WPW é raro, e a síndrome mais rara ainda, com uma prevalência em torno de 1,5/100. Embora o prognóstico seja usualmente excelente, a morte súbita pode acontecer em cerca de 0,1% dos pacientes, e geralmente está associada a fibrilação atrial com resposta ventricular muito rápida, que se degenera em taquicardia ventricular. Pacientes com padrão de pré-excitação ao ECG e aqueles com a síndrome de WPW devem ser referendados ao cardiologista. A indicação de Holter, teste ergométrico e, sobretudo do estudo eletrofisiológico (diagnóstico e para ablação das vias acessórias) será definida conforme as diretrizes e a avaliação cuidadosa do paciente em questão.