9 resultados para Genetic generalized epilepsy
em Repositório Científico do Instituto Politécnico de Lisboa - Portugal
Resumo:
It is a known fact in structural optimization that for structures subject to prescribed non-zero displacements the work done by the loads is not agood measure of compliance, neither is the stored elastic energy. We briefly discuss a possible alternative measure of compliance, valid for general boundary conditions. We also present the adjoint states (necessary for the computation of the structural derivative) for the three functionals under consideration. (C) 2011 Academie des sciences. Published by Elsevier Masson SAS. All rights reserved.
Resumo:
In the two-Higgs-doublet model (THDM), generalized-CP transformations (phi(i) -> X-ij phi(*)(j) where X is unitary) and unitary Higgs-family transformations (phi(i) -> U-ij phi(j)) have recently been examined in a series of papers. In terms of gauge-invariant bilinear functions of the Higgs fields phi(i), the Higgs-family transformations and the generalized-CP transformations possess a simple geometric description. Namely, these transformations correspond in the space of scalar-field bilinears to proper and improper rotations, respectively. In this formalism, recent results relating generalized CP transformations with Higgs-family transformations have a clear geometric interpretation. We will review what is known regarding THDM symmetries, as well as derive new results concerning those symmetries, namely how they can be interpreted geometrically as applications of several CP transformations.
Resumo:
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.
Resumo:
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.
Resumo:
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.
Resumo:
An improved class of Boussinesq systems of an arbitrary order using a wave surface elevation and velocity potential formulation is derived. Dissipative effects and wave generation due to a time-dependent varying seabed are included. Thus, high-order source functions are considered. For the reduction of the system order and maintenance of some dispersive characteristics of the higher-order models, an extra O(mu 2n+2) term (n ??? N) is included in the velocity potential expansion. We introduce a nonlocal continuous/discontinuous Galerkin FEM with inner penalty terms to calculate the numerical solutions of the improved fourth-order models. The discretization of the spatial variables is made using continuous P2 Lagrange elements. A predictor-corrector scheme with an initialization given by an explicit RungeKutta method is also used for the time-variable integration. Moreover, a CFL-type condition is deduced for the linear problem with a constant bathymetry. To demonstrate the applicability of the model, we considered several test cases. Improved stability is achieved.
Resumo:
A dynamical approach to study the behaviour of generalized populational growth models from Bets(p, 2) densities, with strong Allee effect, is presented. The dynamical analysis of the respective unimodal maps is performed using symbolic dynamics techniques. The complexity of the correspondent discrete dynamical systems is measured in terms of topological entropy. Different populational dynamics regimes are obtained when the intrinsic growth rates are modified: extinction, bistability, chaotic semistability and essential extinction.
Resumo:
An abstract theory on general synchronization of a system of several oscillators coupled by a medium is given. By generalized synchronization we mean the existence of an invariant manifold that allows a reduction in dimension. The case of a concrete system modeling the dynamics of a chemical solution on two containers connected to a third container is studied from the basics to arbitrary perturbations. Conditions under which synchronization occurs are given. Our theoretical results are complemented with a numerical study.
Resumo:
In recent papers, the authors obtained formulas for directional derivatives of all orders, of the immanant and of the m-th xi-symmetric tensor power of an operator and a matrix, when xi is a character of the full symmetric group. The operator norm of these derivatives was also calculated. In this paper, similar results are established for generalized matrix functions and for every symmetric tensor power.