68 resultados para autosomal dominant cerebellar ataxia


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One of the main objectives of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the area of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, three exercises have been organized (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03), with 32, 24 and 17 participant laboratories respectively. The exercise aims to give a general vision by addressing, through the proposal of mock cases, aspects related to the edition of mixture profiles and the statistical treatment. The main conclusions obtained from these exercises may be summarized as follows. Firstly, the data show an increased tendency of the laboratories toward validation of DNA mixture profiles analysis following international recommendations (ISO/IEC 17025: 2005). Secondly, the majority of discrepancies are mainly encountered in stutters positions (53.4%, 96.0% and 74.9%, respectively for the three editions). On the other hand, the results submitted reveal the importance of performing duplicate analysis by using different kits in order to reduce errors as much as possible. Regarding the statistical aspect (GHEP-MIX02 and 03), all participants employed the likelihood ratio (LR) parameter to evaluate the statistical compatibility and the formulas employed were quite similar. When the hypotheses to evaluate the LR value were locked by the coordinators (GHEP-MIX02) the results revealed a minor number of discrepancies that were mainly due to clerical reasons. However, the GHEP-MIX03 exercise allowed the participants to freely come up with their own hypotheses to calculate the LR value. In this situation the laboratories reported several options to explain the mock cases proposed and therefore significant differences between the final LR values were obtained. Complete information concerning the background of the criminal case is a critical aspect in order to select the adequate hypotheses to calculate the LR value. Although this should be a task for the judicial court to decide, it is important for the expert to account for the different possibilities and scenarios, and also offer this expertise to the judge. In addition, continuing education in the analysis and interpretation of mixture DNA profiles may also be a priority for the vast majority of forensic laboratories. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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The cerebellum is responsible for coordination and maintenance of the fine control of muscle contraction. In cases of a suspected cerebellar disorder, a computed tomography scan can be performed to identify structural change. The aim of this study is to describe the cerebellar tomographic attenuation values in healthy cats since this variable is considered of great importance in the evaluation of images obtained by this imaging modality. A simple and a contrast enhanced brain computed tomographic scan were performed in 15 adult cats with no history of neurological symptoms and negative for feline leukemia and immunodeficiency virus. After acquiring the image, the measurement of the average attenuation of a cerebellar area of 2 centimeters in diameter was obtained. The cerebellar tomographic attenuation showed a variation from 14.60 to 25.50 HU in the simple scan and from 25.50 to 33.40 HU in the enhanced phase. Most animals (73.33%) had precontrast cerebellar attenuation values within the stipulated limit for the brain in a previous study (20-41 HU). Four animals in this study (26.67%) had values lower than 20 HU, which can be explained by differences in cellular composition between these two regions. The average value of contrast enhancement was 4.91 HU, and in none of the animals an enhancement greater than 10 HU was observed, which is in agreement with previous studies.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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At fixed bail stations in a large institutional setting in Brazil, the temporal and spatial pattern of usage of the dominant species of ant was studied. The ant Crematogaster cf. magnifica, was found in 91% of sampling points. These studies were conducted using the same points as a previous study of tile then dominant ant. Monomorium pharaonis, which was found to have declined from 93% to 3% spatial point occupation. The frequency of point usage during this study was significantly different from the Poisson distribution for both species, indicating non-random use of space. Crematogaster cf. magnifica was significantly more spatially exclusive than had been documented for M. pharaonis, and the probability of points originally occupied by M. pharaonis later becoming occupied by C. cf. magnifica was in excess of 90%. Temporal bait exploitation patterns of the two species did not differ. These data demonstrate that structural ant communities can change over time without human intervention, although short- term stability is characteristic of the urban dominant ants in subtropical Brazil.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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The aim of this study was to analyse the characteristics of the asymmetries in the dominant and non-dominant limbs when kicking stationary and rolling balls. Ten experienced Brazilian amateur futsal players participated in this study. Each participant performed kicks under two conditions (stationary ball vs. rolling ball) with the dominant and non-dominant limbs (five kicks per condition per limb). We analysed the kicking accuracy, ball and foot velocities, angular joint displacement and velocity. The asymmetry between the dominant and non-dominant limbs was analysed by symmetry index and two-way repeated measures ANOVA. The results did not reveal any interaction between the condition and limb for ball velocity, foot velocity and accuracy. However, kicking with the dominant limb in both kicks showed higher ball velocity (stationary ball: dominant - 24.27 ± 2.21 m · s(-1) and non-dominant - 21.62 ± 2.26 m · s(-1); rolling ball: dominant - 23.88 ± 2.71 m · s(-1) and non-dominant - 21.42 ± 2.25 m · s(-1)), foot velocity (stationary ball: dominant - 17.61 ± 1.87 m · s(-1) and non-dominant - 15.58 ± 2.69 m · s(-1); rolling ball: dominant - 17.25 ± 2.26 m · s(-1) and non-dominant - 14.77 ± 2.35 m · s(-1)) and accuracy (stationary ball: dominant - 1.17 ± 0.84 m and non-dominant - 1.56 ± 1.30 m; rolling ball: dominant - 1.31 ± 0.91 m and non-dominant - 1.97 ± 1.44 m). In addition, the angular joint adjustments were dependent on the limb in both kicks (the kicks with non-dominant limb showed lower hip external rotation than the kicks with the dominant limb), indicating that the hip joint is important in kick performance. In conclusion, the kicks with the non-dominant limb showed different angular adjustments in comparison to kicks with the dominant limb. In addition, kicking a rolling ball with the non-dominant limb showed higher asymmetry for accuracy, indicating that complex kicks are more asymmetric.