941 resultados para Subtelomeric Deletion
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This paper examines the price impact of trading due to expected changes in the FTSE 100 index composition. We focus on the latter index because it employs publicly-known objective criteria to determine membership and hence it provides a natural context to investigate anticipatory trading e ects. We propose a panel-regression event study that backs out these anticipatory e ects by looking at the price impact of the ex-ante proba-bility of changing index membership status. Our ndings reveal that anticipative trading explains about 40% and 23% of the cumulative abnormal returns of additions and deletions, respectively. We con rm these in-sample results out of sample by tracking the performance of a trading strategy that relies on the addition/deletion probability estimates. The perfor-mance is indeed very promising in that it entails an average daily excess return of 11 basis points over the FTSE 100 index.
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Introdução. Danos no DNA mitocondrial (DNAmt) têm sido descritos em pacientes com doença renal crônica (DRC). Estes danos podem ser avaliados através da deleção 4977pb do DNAmt em diversos tecidos. Métodos. Identificamos a prevalência da deleção 4977pb do DNAmt através da técnica da reação em cadeia da polimerase (PCR) no sangue de pacientes com DRC em tratamento conservador (creatinina >2mg/dl) ou submetidos a hemodiálise. Resultados. A freqüência da ocorrência da deleção do DNAmt foi de 73.1% (38/52) nos pacientes com DRC submetidos a hemodiálise, 57.1% (27/42) nos pacientes com DRC em tratamento conservador e 27.8% (15/54) nos controles (P< 0.001). Não encontramos aumento da freqüência desta deleção em relação a idade dos pacientes com DRC (P= 0.54) ou ao tempo de diálise (P= 0.70). Conclusão. Danos no DNAmt podem ser induzidos pela DRC em especial nos pacientes submetidos a hemodiálise. Desta forma, a deleção 4977pb do DNAmt pode servir como um marcador de danos moleculares em pacientes com DRC.
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Physiological changes induced by the aging process is dynamic and progressive, reducing the adaptability and independence of older people and may be influenced by genetic and environmental factors. Thus the aim of this thesis was to investigate the association between polymorphism of the ACE gene ID and the phenotypes of muscular strength and blood pressure of 62 elderly Brazilian (67.35 ± 5.66 years) during a 16-week program of supervised training. The elderly women were stratified by age, with the group 1 (G1, n = 34) <70 years and group 2 (G2 n = 28) ≥ 70 years, and in three groups by ACE, ACE-II (n = 8) ACE- DD (n = 35) and ACE-ID (n = 19). The level of muscle strength was evaluated by the method of maximum repetitions and measures of blood pressure (BP) were measured before and after training (PAPré1 and PAPós1) and before and after each training session (PAPre2 and PAPós2), in place of training. DNA samples were isolated from peripheral blood leukocytes polymorphism and insertion / deletion (ID) of the ACE gene (rs1800795) was genotyped by polymerase chain reaction (PCR) plus PCR-confirmatory. The genotype distribution of the polymorphism ID attended the prerogatives of Hardy-Weitíherg. There was variation in power levels before and after training and the age between groups (t-test) and the ACE polymorphism (ANOVA) (p <0.05). Depending on the results it was concluded that resistance training helps to reduce SBP and increased muscle strength of upper and lower limbs when considering the age and ACE polymorphism. In this study the Elderly carriers of the D allele were more reactive to changes in BP resistance training. This study was multidisciplinary project involving researchers in the areas Medical, Physical Education, Pharmacy, Nutrition, Gerontology and Statistics. This fulfilled the requirements of the multidisciplinary Graduate Program in Health Sciences
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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This work consists of a cognitive-functional approach of relativization strategies of Brazilian Portuguese (BP), this is, standard relatives (with preposition or without it) and non-standard relatives (copiadora and the deletion pattern), and it emphasizes the last one. We investigate the use of the relative construction strategies in spoken and written texts produced by speakers from different school levels in a specific situation: a face-to-face interviewing. Our database is the corpora Discurso & Gramática: a língua falada e escrita na cidade do Natal e a língua falada e escrita na cidade do Rio de Janeiro. We contrast the use of the standard relative to the deletion pattern in prepositional context, by considering cognitive, social and interactional motivations for the use of the deletion pattern instead of the standard one. Our research leads us to verify that the deletion pattern is fixing as the preferred relativization strategy in prepositional contexts, and, in this way, it brings out a grammaticalization process in working. For this reason, we propose to take this relative construction as a common way to structure a relative clause, in the same way we take the standard pattern. Finally, we discuss the treatment of questions related to the processes of teaching and learning of Portuguese language and some suggestions are given in terms of class activities. We expect that the development of this research may give both support for the Portuguese teachers and suggestions to improve the teaching and learning process of Portuguese language, contributing in special to the treatment of the syntax of complex clauses.
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As a professor in Curso de Licenciatura em Letras, from Campus Avançado Profa Maria Eliza Albuquerque Maia (CAMEAM),do Estado do Estado do Rio Grande do Norte (UERN), in the town of Pau do Ferros, in the state of Rio Grande do Norte, we had the chance to carry out several writing activities , as well as guiding re-writing activities for the texts produced. From this experience, we started looking at the need of reflecting upon the writing process in higher education. Thus, we aim at analyzing, in this research, the methodology used in the moment of carrying out the writing practices activities in higher education, investigating, in particular, the rewriting practices, concerning the operations used for carrying out such activities, as well as the sense effects produced from the alterations which were made in the texts. Our theoretical foundation is grounded on a conception of text as a verbal action , what reveals a socio-interactional view of the language (MARCUSCHI, 2008; SAUTCHUK, 2003). As the production of written texts, our research focus, we assume that, for this activity, we deal with distinct figures (active writer and internal reader), so that we can, apart from writing, reflecting upon our writing and, this way, deciding about operations which are carried out to make the alterations which are necessary to the rewriting of our texts (SAUTCHUK, 2003). Still about the theoretical foundations used in this research, we made use of the theories from the Textual Analysis of Discourse (TAD) which discusses the belief on the evidence on the existence of the texts, which is opposite to the fixist view of textuality which believes that the texts exist by themselves. (ADAM, 2008; [2005]2010). Under this perspective, we have also adopted, the concepts which come from genetics criticism which is concerned about the relation between text and genesis, using as objects documents which bring traits of the text in progress, on the ground that the text is the result of work in progress, and the writing practice, on the other hand, as an activity in a continuous movement (HAY, [1975]2002; DE BIASI, [2000]2010; GRÉSILLON, 1989; [1990]2008; [1992]2002; SALLES, 2008a). The methodology in this research is an ethnography-based one, an approach which focuses on the process, as well as is meaning-based. To understand the objectives proposed in our research, we made use of different procedures of collecting data which include an ethnographic study, such as: observation, note-taking, document analysis. The data which were analyzed were collected during the semester of 2008.2, in a first term classroom of Curso de Letras from CAMEAM, when we were able to collect twenty-one written texts and all of them were rewritten based on rewriting activities, what provides a corpus of forty-two texts which will be analyzed based on the linguistics operations identified by Generative Grammar and adopted by Lebrave and Grésillon (2009). From these analyses, we were able to confirm that writing is a process, and rewriting has become an extremely important activity for this process. Still due to these data, we observed that substitution was the most used operation by text authors. We believe that this result is justified by the fact that the substitution, according to what proposes the Genetic Criticism, constitutes the source of all erasure, from which one can easily make a change in writing. Regarding the operations of addition and deletion, we found that they were used in quantitative terms, almost equivalently, which can be explained when we see that the two operations require, by the author of the text, different strategies from those used for the replacement, what includes , respectively, adding or removing a segment. Finally, we found out that the shift operation was the least used, since it works with a segment that will not be replaced, added or deleted, but transferred to another place of text, which requires a greater ability of the author to perform this operation and not compromising the meaning of his/her writing. As a result, we hope to contribute to the reflection on the teaching of writing, considering, in a particular way, those with a Bachelor in Arts. Our analysis will contribute to the teaching of Portuguese language, specifically for activities that guide the production of texts in order to explore with students the ability to rewrite their own text
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A naphthopyranone dimer, named planifolin, was isolated from a methylene chloride extract of the capitula of Paepalanthus planifolius Koern. The molecule (C31H26O10) appeared to be made up of two monomeric portions, semi-vioxanthin and paepalantine (an isocoumarin), linked by an ether bond, and it may possess several kinds of biological activity that can be related to its polyphenolic structure. Short-term tests that detect genetic damage can afford the information needed to evaluate carcinogenic risks of chemicals to humans. The Ames test, recommended for testing the mutagenicity of chemical compounds with potential pharmacological application, was used in the present study. The mutagenic activity was evaluated in Salmonella typhimurium strains TA100, TA98, TA102 and TA97a and the cytotoxic effect in McCoy cells. The in vitro cytotoxicity of planifolin to McCoy cells, tested in microculture with neutral red, showed a significant cytotoxic index (CI50) of 12.83 mu g/mL. Planifolin showed mutagenic activity for TA100, TA98 and TA97a. The results indicate that this new naphthopyranone dimer causes mutations by substitution and by addition and deletion of bases in the sequence of DNA. Moreover, its mutagenic potential was increased by metabolic activation. (c) 2005 Elsevier Ltd. All rights reserved.
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The 32-bp deletion in the HIV-1 co-receptor CCR5 confers a high degree of resistance to HIV-1 infection in homozygous individuals for the deleted allele and partial protection against HIV-1 during disease progression in heterozygotes. Natural ligands for CCR5, MIP-1alpha, MIP-1ß and RANTES, have been shown to inhibit HIV replication in CD4+ T cells. In the present study, we examined the CCR5 genotype by PCR and the plasma levels of RANTES and MIP-1alpha by ELISA among blood donors (N = 26) and among HIV-1-infected individuals (N = 129). The control group consisted of healthy adult volunteers and HIV-1-infected subjects were an asymptomatic and heterogeneous group of individuals with regard to immunologic and virologic markers of HIV-1 disease. The frequency of the CCR5 mutant allele (delta32ccr5) in this population was 0.032; however, no delta32ccr5 homozygote was detected. These results could be related to the intense ethnic admixture of the Brazilian population. There was no correlation between circulating ß-chemokines (MIP-1alpha, RANTES) and viral load in HIV-infected individuals. RANTES concentrations in plasma samples from HIV+ patients carrying the homozygous CCR5 allele (CCR5/CCR5) (28.23 ng/ml) were higher than in the control samples (16.07 ng/ml; P<0.05); however, this HIV+ patient group (mean 26.23 pg/ml) had significantly lower concentrations of MIP-1alpha than those observed in control samples (mean 31.20 pg/ml; P<0.05). Both HIV-1-infected and uninfected individuals heterozygous for the delta32ccr5 allele had significantly lower concentrations of circulating RANTES (mean 16.07 and 6.11 ng/ml, respectively) than CCR5/CCR5 individuals (mean 28.23 and 16.07 ng/ml, respectively; P<0.05). These findings suggest that the CCR5 allele and ß-chemokine production may affect the immunopathogenesis of HIV-1.
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Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. (C) 2010 Wiley-Liss, Inc.
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OBJETIVO: Elaborar um procedimento de avaliação de habilidades metafonológicas e caracterizar o desempenho de escolares com dislexia do desenvolvimento, transtornos e dificuldades de aprendizagem, e bom desempenho acadêmico. MÉTODOS: Foram elaboradas provas de habilidades metafonológicas baseadas em habilidades necessárias para o desenvolvimento da leitura e da escrita. Participaram 134 escolares do 3º ao 5º ano do ensino fundamental, de ambos os gêneros, com faixa etária entre 7 e 13 anos de idade, divididos em GI (20 escolares com dislexia do desenvolvimento), GII (20 escolares com transtornos de aprendizagem), GIII (20 escolares com dificuldades de aprendizagem) e GIV (74 escolares com bom desempenho acadêmico). Foi aplicada a avaliação das habilidades metafonológicas - PROHFON. RESULTADOS: GI e GII diferenciaram-se de GIV na maior parte das provas; GI diferenciou-se de GII apenas na prova de síntese e análise fonêmica e de GIII em habilidades de deleção e combinação de fonemas. GIII diferenciou-se de GIV nas habilidades de contagem, identificação, rima, deleção e combinação. CONCLUSÃO: Escolares com dislexia do desenvolvimento, transtornos e dificuldades de aprendizagem, e bom desempenho acadêmico apresentam desempenhos semelhantes nas habilidades de identificação, contagem e combinação de fonemas, rima e aliteração. Os grupos diferenciam-se em relação às habilidades silábicas (contagem, identificação, síntese e análise, deleção, combinação) e fonêmicas (deleção, síntese e análise). O PROHFON contribuiu para a caracterização do perfil metafonológico de escolares com diferentes comprometimentos em aprendizagem.
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Alpha thalassemia, the most common monogenic disorder in the world, is characterized by deletions of one (+-thalassemia) or both alpha genes (0-thalassemia) located on human chromosome 16 (16p13.3). The most common case of +-thalassemia is a deletion of 3.7 kb of DNA (-3.7 deletion). It is most prevalent in African and Middle East regions. In the few studies carried out in Brazilian population -3.7 deletion was the most common deletion, mainly in African descendants. This study was conducted to determine the prevalence of +- thalassemia (deletion 3.7kb) in adult population from Rio Grande do Norte. We obtained blood samples from 713 unrelated individuals of both genders, aged between 18 and 59 years old. All individuals were born in Rio Grande do Norte. The hematological indices were obtained in an automatic cell counter (Micros 60, ABX Diagnostics). The hemoglobin measurement (A2 and Fetal hemoglobin) and the profile confirmation were carried out by high performance liquid chromatography (HPLC) methodology. Genomic DNA was obtained from peripheral blood leukocytes using Illustra Blood GenomicPrep Mini Spin kit and -3.7 deletion was investigated by PCR. Among the 713 individuals studied, 80 (11,2%) presented +- thalassemia: 79 (11,1%) were heterozygous and 1 (0,1%) homozygous for the -3.7 deletion. Considering the ethnic group, negroes showed the greatest prevalence of +-thalassemia (12,5%), followed by mulattoes (12,3%) and caucasian (9,6%). Statistical comparison of hematological parameters between normal individuals and heterozygous to +-thalassemia showed significant differences in RBC (p<0,001), MCV (p<0,001), MCH (p<0,001), Hb A2 (p=0,007) as well as female hemoglobin concentration (p=0,003). This is one of the first studies to research +-thalassemia in general population of Rio Grande do Norte state and these results attest the importance of investigation of this condition to define the etiology of microcytosis and hypochromia.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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We examined the types of Epstein-Barr virus-associated nuclear antigen-1 (EBNA-1) gene carboxy (C)-terminal mutations occurring in Hodgkin's disease (HD) and reactive tissues from two different geographic regions. Previously reported EBNA-1 C-terminal region amino acid sequence variants, based on the amino acid at codon 487, include Prototype (P)-ala, which is found in the B95.8-derived prototype virus, P-thr, Variant (V)-leu, V-val, and V-pro. Using polymerase chain reaction (PCR) to amplify portions of the EBNA-1 gene, followed by DNA sequencing, we found a single EBNA-1 gene sequence variant in each tissue, whether reactive or neoplastic and whether from Brazil or the United States. Variant EBNA-1 gene sequences were more common in both neoplastic and non-neoplastic tissues from different geographic areas than the so-called prototype sequence. In the 17 Brazilian HD cases, 4 cases had P-thr variants and 13 had V-leu variants. In the six reactive tissues from Brazil, one had a P-ala variant, two had P-thr variants, and three had V-leu variants. In the 12 American HD cases, 2 had P-ala variants, 6 had P-thr variants, and 4 had V-leu variants. The 11 American reactive tissues included 2 P ala variants, 5 P-thr variants, and 4 V-leu variants. In both countries, there were similar variant EBNA-1 sequences present in normal tissues and HD cases. Compared with the P ala and P-thr cases, the V-leu cases were more likely to have the 30-bp latent membrane protein 1 (LMP1) gene deletion (P = 0.0075). In addition, cases of HD with the V-leu were statistically associated with a substitution of asparagine for glutamine at codon 322 of the C-terminal portion of the LMP1 gene. Our results suggest that any variation in EBNA-1 gene sequence is caused by a polymorphism present in pre-existing viral strains in the underlying population, and not a mutation occurring during oncogenesis. (C) 1999 by the American Society of Hematology.