962 resultados para QUANTITATIVE GENETIC-ANALYSIS


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Introduction The Scottish Oral Health Research Collaboration identified dental education research (DER) as a key strand of their strategy,(1) leading to the formation of the Dental Education Research Group. The starting point for this group was to understand various stakeholders’ perceptions of research priorities, yet no existing studies were found. The aim of the current study was to identify DER priorities for Scotland in the next 3-5 years. Methods The study utilised a similar methodology to that of Dennis et al,(2) in medical education. Data were collected sequentially using two online questionnaires with multiple dental stakeholders represented at undergraduate and postgraduate levels across urban and rural Scotland. 85 participants completed questionnaire 1 (qualitative) and 649 participants completed questionnaire 2 (quantitative). Qualitative and quantitative data analysis approaches were used. Results Of the 24 priorities identified, the top priorities were: role of assessments in identifying competence; undergraduate curriculum prepares for practice; and promoting teamwork within the dental team. Following factor analysis, the priorities loaded on four factors: teamwork and professionalism, measuring and enhancing performance, personal and professional development challenges, and curriculum integration and innovation. The top barriers were lack of time, funding, staff motivation, valuing of DER, and resources/ infrastructure. Discussion There were many similarities between the identified priorities for dental and medical education research2, but also some notable differences, which will be discussed. Overwhelmingly, the identified priorities in dentistry related to fitness for practice and robust assessment practices. Take home message Priority setting exercises with multiple stakeholders are an important first step in developing a national research strategy. References 1. Bagg J, Macpherson L, Mossey P, Rennie J, Saunders B, Taylor M (2010) Strategy for Oral Health Research in Scotland. Edinburgh: The Scottish Government. 2. Dennis A A, Cleland J A, Johnston P, Ker JS, Lough, M Rees CE (2014) Exploring stakeholders’ views of medical education research priorities: a national study. Medical Education, 48(11): 1078-1091.

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Background and Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease caused by mutations in the CYP27A1. The purpose of this study is to determine the clinical characteristics, neuroimaging and mutation detect in a family with CTX systematically. Methods: Collecting history materials and detecting the routine clinical biochemical tests and imaging examination, and for the first time taking the whole body positron emission tomography (PET)-CT examination for probed in the world to research abnormal metabolism activities in CTX. To observe the effect of treatment with chenodeoxycholic acid (CDCA) and stains before and after the intervention, using serum lipid level detection and neuropsychological evaluation. Genetic testing was carried out to screen the nine exons and exon-intron boundaries about 200-300bq of CYP27A1. Results: A 37-year-old woman with typical clinical characteristics of CTX. Magnetic resonance imaging (MRI) of brain showed bilateral lesions in the dentate nucleus of the cerebellum, then, PET images revealed multiple abnormal hypermetabolism areas at distal tendon, and multifocal areas of hypometabolism in bilateral sides of cerebellar hemispheres, the frontal lobe and temporal lobe. Histopathology reveals accumulation of xanthoma cells and dispersed lipid crystal clefts in xanthomas. In genetic analysis, it shown an insertion of cytosine (77-78insC) located in the first exon of CYP27A1 in the proband. Conclusions: We found that a Chinese patient presented a typical clinical feature of CTX along with clear correlation on both structural and functional imaging had a novel mutation in the CYP27A1 gene.

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The aim of this paper is to present the findings of a quantitative content analysis of the Polish print media. Sharing the codebook and procedures with an international team, we were able to gain a broad perspective on the media coverage of the first Polish EU presidency. In particular, we focused on: (1) the number of items covering events related to the presidency, (2) the prominence of the topic, (3) genres, (4) main topics, (5) authors of news, (6) authors of opinions, and (7) the way Polish journalists evaluated Poland’s performance during the EU presidency. The findings showed that although Polish print press reported the first Polish EU presidency, the topic’s prominence was not very high. Media organizations rather rarely presented the topic on the front page and they did not change their regular editorial policy. Most of the news items, as well as opinions and comments, were written by staff members. Furthermore, journalists seemed to be more interested in the opinions of national politicians, rather than experts. As a result, the framework of the coverage was predominantly domestic. Journalists working for daily newspapers focused mostly on providing news and their own interpretations of the reported events. On the contrary weekly magazines provided comments and interviews, but again, most of the opinions were expressed by their own journalists and editors.

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Objectives: We report the unusual case of a patient with a thyrotropinoma, discovered after a hemithyroidectomy for a suspicious thyroid nodule, and its therapeutic challenges. Materials and methods: In a patient who underwent hemithyroidectomy for cold thyroid nodule, hyperthyroid symptoms persisted, despite stopping levothyroxine treatment. Further investigation was carried out through the following laboratory tests: thyroid-stimulating hormone (TSH) test; free thyroxine (fT4) test; and the thyrotropin releasing hormone (TRH) test. A pituitary magnetic resonance imaging (MRI) scan and genetic analysis was also carried out. The test results confirmed the diagnosis of a thyrotropinoma. Results: Treatment with long-acting somatostatin analogues normalised thyroid hormones and symptoms of hyperthyroidism. Conclusion: The diagnostic approach to the thyroid nodule should include a detailed clinical and biochemical examination. Initial biochemical evaluation by TSH alone does not allow detecting inappropriate TSH secretion that may increase the risk of thyroid malignancy. In case of a thyrotropinoma, the ideal treatment consists of combined care of central and peripheral thyroid disease.

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Tese de Doutoramento, Biologia (Ecologia Vegetal), 25 de Junho de 2013, Universidade dos Açores.

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Fold-and-thrust belts are prominent structures that occur at the front of compressional orogens. To unravel the tectonic and metamorphic evolution of such complexes, kinematic investigations, quantitative microstructural analysis and geothermometry (calcite–graphite, calcite–dolomite) were performed on carbonate mylonites from thrust faults of the Helvetic nappe stack in Central Switzerland. Paleo-isotherms of peak temperature conditions and cooling stages (fission track) of the nappe pile were reconstructed in a vertical section and linked with the microstructural and kinematic evolution. Mylonitic microstructures suggest that under metamorphic conditions close to peak temperature, strain was highly localized within thrust faults where deformation temperatures spatially continuously increased in both directions, from N to S within each nappe and from top–down in the nappe stack, covering a temperature range of 180–380 °C. Due to the higher metamorphic conditions, thrusting of the lowermost nappe, the Doldenhorn nappe, was accompanied by a much more pronounced nappe internal ductile deformation of carbonaceous rock types than was the case for the overlying Wildhorn- and Gellihorn nappes. Ongoing thrusting brought the Doldenhorn nappe closer to the surface. The associated cooling resulted in a freezing in of the paleo-isotherms of peak metamorphic conditions. Contemporaneous shearing localized in the basal thrust, initially still in the ductile deformation regime and finally as brittle faulting and cataclasis inducing ultimately an inverse metamorphic zonation. With ongoing exhumation and the formation of the Helvetic antiformal nappe stack, a bending of large-scale tectonic structures (thrusts, folds), peak temperature isotherms and cooling isotherms occurred. While this local bending can directly be attributed to active deformation underneath the section investigated up to times of 2–3 ma, a more homogeneous uplift of the entire region is suggested for the very late and still active exhumation stage.

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A ovelha Serra da Estrela é a principal raça ovina leiteira do país, com 2 variedades: branca (em maior número) e preta. Os principais produtos resultantes da exploração destes animais são o leite (através da sua transformação em Queijo Serra da Estrela) e a carne (através da comercialização de borregos com 30 a 40 dias de idade), ambos de Denominação de Origem Protegida (DOP). Tem sido através da intervenção, a vários níveis, da Associação Nacional de Criadores de Ovinos Serra da Estrela (ANCOSE), que esta raça se tem mantido, nomeadamente, através das acções reprodutivas nas explorações (IA, sincronização de cios, utilização de machos seleccionados) e da recolha e organização da informação genealógica e produtiva (através dos contrastes funcionais de lactação). A informatização integrada e mais racional desta informação, realizada nos últimos anos, tornou possível a execução de outras atividades, nomeadamente, a caracterização genética por análise demográfica e avaliação genética da raça. Com este trabalho pretende-se, através da análise da informação disponível no Livro Genealógico da raça, cedida pela ANCOSE, estudar vários parâmetros que contribuem para a caracterização demográfica da raça Serra da Estrela e a sua avaliação genética. Foram considerados 302911 animais, 401177 partos de 144024 ovelhas, para estimação dos valores genéticos da PROL e 351720 registos de lactações de 131760 ovelhas, para estimação dos valores genéticos da PL150 obtidos em 844 explorações e registados entre 1986 e 2012. Estes resultados auxiliarão na definição das estratégias futuras para a gestão destas populações e à sua utilização em esquemas de selecção desta raça, propondo-se um plano estratégico, com actuações a vários níveis. Nos últimos anos as estratégias de melhoramento genético dos animais por selecção evoluiu consideravelmente. Através das estimativas dos valores genéticos dos animais, obtidas a partir das suas performances e dos seus parentes, pretende-se seleccionar os animais geneticamente superiores para as características mais importantes.

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O presente projeto de Mestrado assenta no estudo dos principais fatores motivacionais na compra de livros de ficção, aprofundando a dicotomia uso próprio versus oferta, englobando duas perspetivas complementares: a sustentação bibliográfica e uma pesquisa quantitativa que foi concretizada através da distribuição de um inquérito por questionário, em formato digital, que permitiu obter 487 respostas válidas e completas. Os dados obtidos foram tratados no SPSS (Statistical Package for the Social Sciences), utilizando análises descritivas, que foram complementadas com técnicas de inferência estatística. Os resultados permitiram concluir que, apesar de homens e mulheres oferecerem um número idêntico de livros, as mulheres compram e leem mais. Além disso, cerca de um terço dos livros comprados destina-se a oferta. Ficou ainda provado que a interação com os autores nas redes sociais apresenta uma associação positiva com a importância atribuida a esse fator na hora de comprar o(s) livro(s). As mulheres são mais sensíveis às “Políticas de Marketing” (Atendimento Personalizado; Facilidade de Pagamento; Local com Cartão de Fidelização; Preços e Descontos; Elevada quantidade de livros), enquanto critérios de seleção do local de compra. Importa referir que a compra é concretizada de forma menos impulsiva quando o livro é para oferta. Os atributos da capa mais relevantes no processo de decisão de compra são o “Título” e a “Sinopse”. Contudo, os diferentes fatores da capa estudados não apresentam diferenças significativas na compra para uso próprio comparativamente à oferta, no que respeita à sua importância. “Autores com prémios literários” e “Nobel” e “Ser uma novidade” (livro) são outros fatores (não da capa) que apresentam diferenças significativas favoráveis à compra para oferta. Por outro lado, “Recomendação de Amigos e Familiares” e “Presença/Ligação/Interação com o Autor nas redes sociais” são mais favoráveis à compra para uso próprio. As conclusões são relevantes para enquadrar as preferências dos consumidores, possibilitando aos profissionais do marketing algumas referências para definir estratégias que respondam às suas necessidades e ambições. Além disso, ao explorar a dimensão dos submercados (Uso próprio versus Oferta), será possível ir ao encontro das exigências dos compradores, tornando a subjetividade da aquisição/utilização numa ferramenta eficaz da própria idealização e personalização dos livros, permitindo conceber e implementar ideias empreendedoras que visem estimular a compra e, consequentemente, melhorar os hábitos de leitura de todos os portugueses.

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Dissertação (mestrado)—Universidade de Brasília, Instituto de Física, Programa de Pós-Graduação em Física, 2015.

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O panorama atual da sociedade e das organizações carece de compreender e conhecer se as competências dos colaboradores estão ou não a ser aproveitadas dentro da organização e/ou se as suas necessidades profissionais e pessoais estão a ser valorizadas. O presente estudo pretende evidenciar a importância da gestão das expectativas na motivação e comprometimento organizacional de 152 colaboradores de uma organização do setor farmacêutico português. A análise quantitativa dos dados foi realizada através do software SPSS e a qualitativa através de matrizes de análise de conteúdo. Os resultados mostram quais são as expectativas dos colaboradores desde a sua integração, os fatores que contribuem para os elevados níveis de motivação e comprometimento e como o trabalho desenvolvido pelas chefias comtempla a gestão das expectativas e motivações. Consideramos que as expectativas são um pilar fulcral na gestão das equipas em prol da motivação e do comprometimento; The importance of managing the expectations of employees in increasing the motivation and organizational commitment – Case Study Abstract: The current situation of society and organizations lack the understanding and knowing that the skills of employees are either not being utilized within the organization and / or their professional and personal needs are being valued. This study aims to highlight the importance of managing expectations in motivation and organizational commitment of 152 employees of an organization of the Portuguese pharmaceutical sector. The quantitative data analysis was performed using SPSS software and qualitative matrices through content analysis. The results show what the expectations of employees since its integration, the factors contributing to the high levels of motivation and commitment and how the work done by managers contemplates the management of expectations and motivations. We believe that the expectations are a key pillar in the management of teams for the sake of motivation and commitment.

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The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

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Dissertação (Mestrado em Tecnologia Nuclear)

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In quantitative risk analysis, the problem of estimating small threshold exceedance probabilities and extreme quantiles arise ubiquitously in bio-surveillance, economics, natural disaster insurance actuary, quality control schemes, etc. A useful way to make an assessment of extreme events is to estimate the probabilities of exceeding large threshold values and extreme quantiles judged by interested authorities. Such information regarding extremes serves as essential guidance to interested authorities in decision making processes. However, in such a context, data are usually skewed in nature, and the rarity of exceedance of large threshold implies large fluctuations in the distribution's upper tail, precisely where the accuracy is desired mostly. Extreme Value Theory (EVT) is a branch of statistics that characterizes the behavior of upper or lower tails of probability distributions. However, existing methods in EVT for the estimation of small threshold exceedance probabilities and extreme quantiles often lead to poor predictive performance in cases where the underlying sample is not large enough or does not contain values in the distribution's tail. In this dissertation, we shall be concerned with an out of sample semiparametric (SP) method for the estimation of small threshold probabilities and extreme quantiles. The proposed SP method for interval estimation calls for the fusion or integration of a given data sample with external computer generated independent samples. Since more data are used, real as well as artificial, under certain conditions the method produces relatively short yet reliable confidence intervals for small exceedance probabilities and extreme quantiles.