139 resultados para Triplet repeat expansion

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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The paper presents an extended genetic algorithm for solving the optimal transmission network expansion planning problem. Two main improvements have been introduced in the genetic algorithm: (a) initial population obtained by conventional optimisation based methods; (b) mutation approach inspired in the simulated annealing technique, the proposed method is general in the sense that it does not assume any particular property of the problem being solved, such as linearity or convexity. Excellent performance is reported in the test results section of the paper for a difficult large-scale real-life problem: a substantial reduction in investment costs has been obtained with regard to previous solutions obtained via conventional optimisation methods and simulated annealing algorithms; statistical comparison procedures have been employed in benchmarking different versions of the genetic algorithm and simulated annealing methods.

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In this paper, an efficient genetic algorithm (GA) is presented to solve the problem of multistage and coordinated transmission expansion planning. This is a mixed integer nonlinear programming problem, difficult for systems of medium and large size and high complexity. The GA presented has a set of specialized genetic operators and an efficient form of generation of the initial population that finds high quality suboptimal topologies for large size and high complexity systems. In these systems, multistage and coordinated planning present a lower investment than static planning. Tests results are shown in one medium complexity system and one large size high complexity system.

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A combinatorial mathematical model in tandem with a metaheuristic technique for solving transmission network expansion planning (TNEP) using an AC model associated with reactive power planning (RPP) is presented in this paper. AC-TNEP is handled through a prior DC model while additional lines as well as VAr-plants are used as reinforcements to cope with real network requirements. The solution of the reinforcement stage can be obtained by assuming all reactive demands are supplied locally to achieve a solution for AC-TNEP and by neglecting the local reactive sources, a reactive power planning (RPP) will be managed to find the minimum required reactive power sources. Binary GA as well as a real genetic algorithm (RCA) are employed as metaheuristic optimization techniques for solving this combinatorial TNEP as well as the RPP problem. High quality results related with lower investment costs through case studies on test systems show the usefulness of the proposal when working directly with the AC model in transmission network expansion planning, instead of relaxed models. (C) 2010 Elsevier B.V. All rights reserved.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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We present a bilevel model for transmission expansion planning within a market environment, where producers and consumers trade freely electric energy through a pool. The target of the transmission planner, modeled through the upper-level problem, is to minimize network investment cost while facilitating energy trading. This upper-level problem is constrained by a collection of lower-level market clearing problems representing pool trading, and whose individual objective functions correspond to social welfare. Using the duality theory the proposed bilevel model is recast as a mixed-integer linear programming problem, which is solvable using branch-and-cut solvers. Detailed results from an illustrative example and a case study are presented and discussed. Finally, some relevant conclusions are drawn.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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The purpose of this study was to evaluate the setting time and the thermal expansion coefficient of 2 endodontic cements, MTA-Angelus and a novel cement called CER. The setting time was determined in accordance to ANSI/ADA specifications no. 57. Three samples of 10 mm diameter and 2 mm thickness were prepared for each cement. The thermal expansion measurements were performed by strain gauge technique. Four samples of each cement were prepared using silicone rings of 5 mm diameter and 2 mm thickness. The data were analyzed statistically using the Student t test. The setting time obtained for the MTA-Angelus and CER cements was 15 (SD 1) min and 7 (SD 1) min, respectively. The linear coefficient of thermal expansion was 8.86 (SD 0.28) mu strain/degrees C for MTA-Angelus and 11.76 (SD 1.20) mu strain/degrees C for CER. The statistical analysis showed significant difference (P < .05) in the setting time and linear coefficient of thermal expansion between the 2 cements. The CER cement has a coefficient of expansion similar to dentin, which could contribute to a decrease of microleakage degree.

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Objective: Alterations in the size of the [CAG](n) repeats of the AR gene have been described in several types tumors. The purpose of this study was to evaluate if there is an association between the AR [CAG](n) repeat alleles and the relative risk for head and neck cancer and to analyse microsatellite instability (MSI) and loss of heterozygosity (LOH) in these tumors.Design: Matched samples of blood and head and neck tumors were evaluated using two methodologies, silver-stained gels to perform the analyses of MSI and LOH, and automated analysis to confirm these results and for genotyping of the AR [CAG](n), repeat length. Sixty-nine individuals without cancer were used as a control group for both procedures. The Log-rank test was used to compare overall survival and disease-free survival curves. The Cox proportional hazards regression models were performed to determine the [CAG], repeats as an independent prognostic factor.Results: Patients with alleles <= 20 in the male group showed a correlation with lower disease-free survival (P = 0.0325) and with recurrence or metastasis (RR 2.52, CI 95%). in the female group, the allele 2 (longer allele) showed a significant lower mean of [CAG](n), repeat when compared to the control group. Microsatellite instability was detected in nine cases in both procedures. In six out of these nine cases, we observed a reduction of the AR [CAG](n) repeat length. LOH was detected in one out of 17 women informative for oral cancer in both procedures.Conclusion: These results suggest that short [CAG](n) repeat length (: 20) polymorphism is associated with poor prognosis in a subset of male patients with head and neck cancer and that AR gene microsatellite instability is uncommon in these tumors. (C) 2007 Elsevier Ltd. All rights reserved.

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Objective: The aim of the present study was to use facial analysis to determine the effects of rapid maxillary expansion (RME) on nasal morphology in children in the stages of primary and mixed dentition, with posterior cross-bite. Material and Methods: Facial photographs (front view and profile) of 60 patients in the pre-expansion period, immediate post-expansion period and one year following rapid maxillary expansion with a Haas appliance were evaluated on 2 occasions by 3 experienced orthodontists independently, with a 2-week interval between evaluations. The examiners were instructed to assess nasal morphology and had no knowledge regarding the content of the study. Intraexanniner and interexanniner agreement (assessed using the Kappa statistic) was acceptable. Results: From the analysis of the mode of the examiners' findings, no alterations in nasal morphology occurred regarding the following aspects: dorsunn of nose, alar base, nasal width of middle third and nasal base. Alterations were only detected in the nasolabial angle in 1.64% of the patients between the pre-expansion and immediate post-expansion photographs. In 4.92% of the patients between the immediate post-expansion period and 1 year following expansion; and in 6.56% of the patients between the pre-expansion period and one year following expansion. Conclusion: RME performed on children in stages of primary and mixed dentition did not have any impact on nasal morphology, as assessed using facial analysis.

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This study analyzed occlusal radiographs to compare the transverse changes produced in patients treated with rapid maxillary expansion using two types of appliances. The sample consisted of 31 children aged 7 to 10.6 years, of both genders, with posterior cross-bite. Fifteen children were treated with a tooth-borne expander and 16 were treated with a tooth-tissue-borne expander. Occlusal radiographs obtained at treatment onset and at the end of the retention period were digitized. The following variables were measured: intermolar distance (IMD), interapical distance (IApD), interbase distance (IBaD) and interarm distance (IArD). The results revealed increases in all measurements in both groups after rapid maxillary expansion. Comparison between groups revealed that the increases were greater in patients treated with the tooth-borne expander, except for the IArD measurement, which presented the same increase in both groups. Even though the IMD measurements differed between expanders, they were proportional to the activation of the appliances (IBaD). The increase in the IApD measurement was proportionally greater in the group treated with the tooth-borne expander (0.7:1.0) than in that treated with the tooth-tissue-borne expander (0.4:1.0). It was concluded that both appliances had similar effects, although the tooth-tissue-borne expander produced a lesser opening at the apical region of the incisors.

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Ingestion of a foreign object, including a dental object, can lead to a trip to the emergency room. This article describes the accidental swallowing of a key that was used to activate a rapid maxillary expander. An orthodontic patient swallowed the key while trying to activate the appliance at home. The object's trajectory was followed on radiographs until it was eliminated. Possible clinical complications, legal implications of this situation, and practices for prevention are described. (Am J Orthod Dentofacial Orthop 2011;140:266-8)

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

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Genetic variation in the transcription factor interferon regulatory factor 6 (IRF6) causes and contributes risk for oral clefting disorders. We hypothesized that genes regulated by IRF6 are also involved in oral clefting disorders. We used five criteria to identify potential IRF6 target genes; differential gene expression in skin taken from wild-type and Irf6-deficient murine embryos, localization to the Van der Woude syndrome 2 (VWS2) locus at 1p36-1p32, overlapping expression with Irf6, presence of a conserved predicted-binding site in the promoter region, and a mutant murine phenotype that was similar to the Irf6 mutant mouse. Previously, we observed altered expression for 573 genes; 13 were located in the murine region syntenic to the VWS2 locus. Two of these genes, Wdr65 and Stratifin, met 4 of 5 criteria. Wdr65 was a novel gene that encoded a predicted protein of 1,250 amino acids with two WD domains. As potential targets for Irf6 regulation, we hypothesized that disease-causing mutations will be found in WDR65 and Stratifin in individuals with VWS or VWS-like syndromes. We identified a potentially etiologic missense mutation in WDR65 in a person with VWS who does not have an exonic mutation in IRF6. The expression and mutation data were consistent with the hypothesis that WDR65 was a novel gene involved in oral clefting. (C) 2011 Wiley-Liss, Inc.