7 resultados para GENETIC-RESOURCES

em Repositório Científico do Instituto Politécnico de Lisboa - Portugal


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The International Agency for Research on Cancer classified formaldehyde as carcinogenic to humans because there is “sufficient epidemiological evidence that it causes nasopharyngeal cancer in humans”. Genes involved in DNA repair and maintenance of genome integrity are critically involved in protecting against mutations that lead to cancer and/or inherited genetic disease. Association studies have recently provided evidence for a link between DNA repair polymorphisms and micronucleus (MN) induction. We used the cytokinesis-block micronucleus (CBMN assay) in peripheral lymphocytes and MN test in buccal cells to investigate the effects of XRCC3 Thr241Met, ADH5 Val309Ile, and Asp353Glu polymorphisms on the frequency of genotoxicity biomarkers in individuals occupationally exposed to formaldehyde (n = 54) and unexposed workers (n = 82). XRCC3 participates in DNA double-strand break/recombination repair, while ADH5 is an important component of cellular metabolism for the elimination of formaldehyde. Exposed workers had significantly higher frequencies (P < 0.01) than controls for all genotoxicity biomarkers evaluated in this study. Moreover, there were significant associations between XRCC3 genotypes and nuclear buds, namely XRCC3 Met/Met (OR = 3.975, CI 1.053–14.998, P = 0.042) and XRCC3 Thr/Met (OR = 5.632, CI 1.673–18.961, P = 0.005) in comparison with XRCC3 Thr/Thr. ADH5 polymorphisms did not show significant effects. This study highlights the importance of integrating genotoxicity biomarkers and genetic polymorphisms in human biomonitoring studies.

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A great number of low-temperature geothermal fields occur in Northern-Portugal related to fractured rocks. The most important superficial manifestations of these hydrothermal systems appear in pull-apart tectonic basins and are strongly conditioned by the orientation of the main fault systems in the region. This work presents the interpretation of gravity gradient maps and 3D inversion model produced from a regional gravity survey. The horizontal gradients reveal a complex fault system. The obtained 3D model of density contrast puts into evidence the main fault zone in the region and the depth distribution of the granitic bodies. Their relationship with the hydrothermal systems supports the conceptual models elaborated from hydrochemical and isotopic water analyses. This work emphasizes the importance of the role of the gravity method and analysis to better understand the connection between hydrothermal systems and the fractured rock pattern and surrounding geology. (c) 2013 Elsevier B.V. All rights reserved.

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Aim - To identify clinical and/or genetic predictors of response to several therapies in Crohn’s disease (CD) patients. Methods - We included 242 patients with CD (133 females) aged (mean ± standard deviation) 39 ± 12 years and a disease duration of 12 ± 8 years. The single-nucleotide polymorphisms (SNPs) studied were ABCB1 C3435T and G2677T/A, IL23R G1142A, C2370A, and G9T, CASP9 C93T, Fas G670A and LgC844T, and ATG16L1 A898G. Genotyping was performed with real-time PCR with Taqman probes. Results - Older patients responded better to 5-aminosalicylic acid (5-ASA) and to azathioprine (OR 1.07, p = 0.003 and OR 1.03, p = 0.01, respectively) while younger ones responded better to biologicals (OR 0.95, p = 0.06). Previous surgery negatively influenced response to 5-ASA compounds (OR 0.25, p = 0.05), but favoured response to azathioprine (OR 2.1, p = 0.04). In respect to genetic predictors, we observed that heterozygotes for ATGL16L1 SNP had a significantly higher chance of responding to corticosteroids (OR 2.51, p = 0.04), while homozygotes for Casp9 C93T SNP had a lower chance of responding both to corticosteroids and to azathioprine (OR 0.23, p = 0.03 and OR 0.08, p = 0.02,). TT carriers of ABCB1 C3435T SNP had a higher chance of responding to azathioprine (OR 2.38, p = 0.01), while carriers of ABCB1 G2677T/A SNP, as well as responding better to azathioprine (OR 1.89, p = 0.07), had a lower chance of responding to biologicals (OR 0.31, p = 0.07), which became significant after adjusting for gender (OR 0.75, p = 0.005). Conclusions - In the present study, we were able to identify a number of clinical and genetic predictors of response to several therapies which may become of potential utility in clinical practice. These are preliminary results that need to be replicated in future pharmacogenomic studies.

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Environment monitoring has an important role in occupational exposure assessment. However, due to several factors is done with insufficient frequency and normally don´t give the necessary information to choose the most adequate safety measures to avoid or control exposure. Identifying all the tasks developed in each workplace and conducting a task-based exposure assessment help to refine the exposure characterization and reduce assessment errors. A task-based assessment can provide also a better evaluation of exposure variability, instead of assessing personal exposures using continuous 8-hour time weighted average measurements. Health effects related with exposure to particles have mainly been investigated with mass-measuring instruments or gravimetric analysis. However, more recently, there are some studies that support that size distribution and particle number concentration may have advantages over particle mass concentration for assessing the health effects of airborne particles. Several exposure assessments were performed in different occupational settings (bakery, grill house, cork industry and horse stable) and were applied these two resources: task-based exposure assessment and particle number concentration by size. The results showed interesting results: task-based approach applied permitted to identify the tasks with higher exposure to the smaller particles (0.3 μm) in the different occupational settings. The data obtained allow more concrete and effective risk assessment and the identification of priorities for safety investments.

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This paper presents the Genetic Algorithms (GA) as an efficient solution for the Okumura-Hata prediction model tuning on railways communications. A method for modelling the propagation model tuning parameters was presented. The algorithm tuning and validation were based on real networks measurements carried out on four different propagation scenarios and several performance indicators were used. It was shown that the proposed GA is able to produce significant improvements over the original model. The algorithm developed is currently been used on real GSM-R network planning process for an enhanced resources usage.

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Objectives - To identify occupational stressors and coping resources in a group of physiotherapists, and to analyse interactions between subjective levels of stress, efficacy in stress resolution and coping resources used by these professionals. Design - A sample of 55 physiotherapists working in three general hospitals in Portugal completed the Coping Resources Inventory for Stress, the Occupational Stressors Inventory and two subjective scales for stress and stress resolution. Main results - Most physiotherapists perceived that they were moderately stressed (19/55, 35%) or stressed (20/55, 36%) due to work, and reported that their efficacy in stress resolution was moderate (25/54, 46%) or efficient (23/54, 42%). Issues related to lack of professional autonomy, lack of organisation in the hierarchical command chain, lack of professional and social recognition, disorganisation in task distribution and interpersonal conflicts with superiors were identified as the main sources of stress. The most frequently used coping resources were social support, stress monitoring, physical health and structuring. Perceived efficacy in stress resolution was inversely related to perceived level of occupational stress (r = −0.61, P < 0.01). Significant correlations were found between several coping resources and the perceived level of stress and efficacy in stress resolution. Associations between problem solving, cognitive restructuring and stress monitoring and both low levels of perceived stress and high levels of perceived efficacy were particularly strong. Implications for practice - The importance of identifying stressors and coping resources related to physiotherapists’ occupational stress, and the need for the development of specific training programmes to cope with stress are supported.

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Real structures can be thought as an assembly of components, as for instances plates, shells and beams. This later type of component is very commonly found in structures like frames which can involve a significant degree of complexity or as a reinforcement element of plates or shells. To obtain the desired mechanical behavior of these components or to improve their operating conditions when rehabilitating structures, one of the eventual parameters to consider for that purpose, when possible, is the location of the supports. In the present work, a beam-type structure is considered, and for a set of cases concerning different number and types of supports, as well as different load cases, the authors optimize the location of the supports in order to obtain minimum values of the maximum transverse deflection. The optimization processes are carried out using genetic algorithms. The results obtained, clearly show a good performance of the approach proposed. © 2014 IEEE.