26 resultados para alelos raros
em Universidade Federal do Rio Grande do Norte(UFRN)
Resumo:
Neste trabalho objetivou-se verificar, teoricamente , a possibilidade de manutenção de heterozigotos, em populações de plantas autógamas, na presença e na ausência de seleção dependente de frequência (SDF). Considerou-se apenas um loco com dois alelos. Utilizou-se a dedução algébrica de formulas referentes a alguns modelos de populações e um programa para simular a sucessão das gerações em uma calculadora científica avançada. Comparou-se os resultados do modelo com os dados obtidos experimentalmente por Allard e Workman (1963) e por Harding, Allard e Smeltzer (1966). Os coeficientes de determinação foram 0,9653 e 0,9166 para a primeira e a segunda comparação, respectivamente. Estes coeficientes indicam que o modelo D representa de modo bastante fidedigno as variações observadas em populações experimentais de plantas predominantemente autógamas
Resumo:
Ethics on scientific research is approached and often discussed in several areas of knowledge connected to health. In the Administration area there are very few studies which approach the topic of ethics on research. The present paper tried to fill in this gap in the production of knowledge about the topic, investigating how the ethical principles found in the literature and in the codes of conduct are noticed and taken into account in Administration research activities developed by acting researchers in Administration Post Graduation Programs. Theoretically speaking, the study was based mainly on the approaches by Creswell (2007) and Bell and Bryman (2007), which discuss the research ethical principles. Methodologically speaking it was all about an exploratory kind of study, with qualitative research approach. Upon data collection, personal interviews were made aiming at its depth and focus groups were formed. The first stage had interviews with four experienced researchers who took part on a teaching and researching event and on the second stage we used the focus group technique. The focus groups were done in four college institutions along with the post graduation programs in Administration in the states of Rio Grande do Norte, Paraíba and Pernambuco, in Brazil. The results suggest the existence of general principles and parameters for the scientific research recommended in the literature and on official resolution. However, in the Administration area, there are only a few recommendations of good practices when it comes to submitting articles for scientific publications but we found no guidance with ethical principles and parameters which cover all the activities in the scientific research and which specifically meet the research particularities in Administration. The main ethical dilemma pointed by the researchers refers to ethical questions which arise at the time of data collection and on disclosing the results. Most researchers do not know the guidelines and the ethical norms on ethics about research that we have in our country neither do they send in their projects to the research ethics committee. When dilemma arises, they decide the ethical question based on their values and common sense. These elements confirm the thesis that the researcher s procedure in the research activities in Administration is predominantly signed by personal values or by common sense and less by ethical principles, whether by not knowing the normative instruments related to ethics or by disagreeing with any disciplining rules on ethical behavior in the research
Resumo:
O objetivo desta tese foi analisar os recursos intangíveis de um destino turístico. Foi feito um estudo de desempenho da cidade de Natal tendo como base a teoria das capacidades dinâmicas. Inicialmente, foi desenvolvido um instrumento de pesquisa para oportunizar a construção de um modelo de medida com vistas à captação de variáveis latentes para os recursos intangíveis existentes no setor do turismo em Natal-RN. Em seguida, foi realizada uma análise dos recursos intangíveis que são evidenciados pelos turistas acerca da cidade. Finalmente, foi feita a investigação de um modelo de estrutura que estabeleceu as relações entre as variáveis latentes dos recursos intangíveis e a percepção de desempenho do turismo na cidade de Natal. Procedeu-se uma revisão de literatura para construção de um modelo inicial acerca dos ativos intangíveis dentro da teoria das capacidades e foram relacionados dez recursos, quais sejam: recursos humanos prestadores de serviços; recursos humanos como gestores; cultura local; conservação do meio ambiente; know-how empresarial; inovação empresarial; tecnologia; marca; preço; e promoção. Estes dez recursos, em conjunto, seriam responsáveis pelo desempenho do destino turístico. Após ser realizada uma análise de equações estruturais, apenas quatro recursos manifestaram relações com o desempenho: marca; cultura; conservação do meio ambiente; e preço. Análisando dos dados, verificou-se que a variável desempenho positivo da cidade na ótica do turista se manifestou fortemente e foi influenciada de forma forte pela cultura local, marca e conservação do meio ambiente em conjunto. O preço foi influenciado pelo desempenho positivo mostrando que o turista sente que o preço pago foi satisfatório diante dos atributos do destino Provavelmente, isso seja um ponto positivo muito forte para o destino turístico de Natal, pois, em termos de recursos intangíveis e de juntos formarem capacidades, eles são inimitáveis, raros e são capazes de se ajustarem às mudanças organizacionais e ambientais, para reconfigurar os ativos e as estruturas de um destino, corroborando, assim, com a teoria das capacidades dinâmicas. Esses recursos da cidade de Natal, como destino turístico, são únicos e provavelmente têm um peso muito maior para o desempenho da cidade do que problemas existentes na localidade. Logo, esses atributos devem ser estimulados a continuar crescendo e se modificando de acordo com as exigências atuais e futuras de consumo
Resumo:
In the teaching practice of architecture and urbanism in Brazil, educational legislation views modeling laboratories and workshops as an indispensable component of the infrastructure required for the good functioning of any architectural course of study. Although the development of information technology at the international level has created new possibilities for digital production of architectural models, research in this field being underway since the early 1990s, it is only from 2007 onwards that such technologies started to be incorporated into the teaching activity of architecture and urbanism in Brazil, through the pioneering experience at LAPAC/FEC/UNICAMP. It is therefore a recent experiment whose challenges can be highlighted through the following examples: (i) The implementation of digital prototyping laboratories in undergraduate courses of architecture and urbanism is still rare in Brazil; (ii) As a new developing field with few references and application to undergraduate programs, it is hard to define methodological procedures suitable for the pedagogical curricula already implemented or which have already been consolidated over the years; (iii) The new digital ways for producing tridimensional models are marked with specificities which make it difficult to fit them within the existing structures of model laboratories and workshops. Considering the above, the present thesis discusses the tridimensional model as a tool which may contribute to the development of students skills in perceiving, understanding and representing tridimensional space. Analysis is made of the relation between different forms of models and the teaching of architectural project, with emphasis on the design process. Starting from the conceptualization of the word model as it is used in architecture and urbanism, an attempt is made to identify types of tridimensional models used in the process of project conception, both through the traditional, manual way of model construction as well as through the digital ones. There is also an explanation on how new technologies for digital production of models through prototyping are being introduced in undergraduate academic programs of architecture and urbanism in Brazil, as well as a review of recent academic publications in this area. Based on the paradigm of reflective practice in teaching as designed by Schön (2000), the experiment applied in the research was undertaken in the integrated workshop courses of architectural project in the undergraduate program of architecture and urbanism at Universidade Federal do Rio Grande do Norte. Along the experiment, physical modeling, geometric modeling and digital prototyping are used in distinct moments of the design process with the purpose of observing the suitability of each model to the project s phases. The procedures used in the experiments are very close to the Action Research methodology in which the main purpose is the production of theoretical knowledge by improving the practice. The process was repeated during three consecutive semesters and reflection on the results which were achieved in each cycle helped enhancing the next one. As a result, a methodological procedure is proposed which consists of the definition of the Tridimensional Model as the integrating element for the contents studied in a specific academic period or semester. The teaching of Architectural Project as it is developed along the fifth academic period of the Architecture and Urbanism undergraduate program of UFRN is taken as a reference
Resumo:
The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found
Resumo:
Beta thalassemia arises as a consequence of the reduction (β+, β++, βsilent) or absence (β0) of beta globin chain synthesis and results from a number of mechanisms that lead to genetic defects. The inheritance of beta thalassemia is characterized by the existence of heterozygous individuals, compound heterozygotes, homozygotes and those with coinheritance of beta thalassemia allele and other thalassemias and/or hemoglobin variants. The aim of this study was to perform molecular and laboratory characterization of beta thalassemia in heterozygous and homozygous individuals and in those with coinheritance of S beta thalassemia. A total of 48 individuals were included (35 heterozygotes, 4 homozygotes and 9 S beta thalessemia carriers) referred to the Integrated Laboratory of Clinical Analyses of the Federal University of Rio Grande do Norte (UFRN) and the Hematology Ambulatory Facility of the Dalton Barbosa Cunha Hemocenter (Hemonorte Natal, Brazil). Peripheral blood samples form each patient underwent the following laboratory examinations: erythrogram, hemoglobin electrophoresis at alkaline pH, measurements of Hb A2, Fetal Hb and serum ferritin. DNA was extracted using the illustra blood genomicPrep Mini Spin Kit and molecular characterization was performed by the PCR/RFLP technique, which involves digestion with specific restriction enzymes for IVS-1 nt 1 (G®A), IVS-1 nt 6 (T®C) and codon 39 (CAG®TAG) mutations. Of the 35 heterozygotes, 37.1% showed IVS-1 nt 6 mutation, 42.9% IVS-1 nt 1 and 20% were carriers of other mutations not identified by the technique used. The four homozygous patients presented with the IVS-1 nt 6 mutation, while 66.7% of the individuals with S beta thalassemia had the IVS-1 nt 1 mutation. Codon 39 was not detected in any of the patients investigated. Of the thallasemic alleles found, 40.4% were IVS- 1 nt 1, 40.4% IVS-1 nt 6 and 19.2% were not identified. Laboratory data showed that the heterozygotes exhibited microcytosis and hypochromia, evidenced by MCV ranging from 57 to 75fL and MCH from 15.9 to 23.6 pg. Hemoglobin A2 varied between 3.7 and 7.2%. The homogygotes also showed reduced MCV and MCH and elevated HbA2.. Comparison of laboratory data between heterozygous individuals with IVS-1 nt 1 and IVS-1 nt 6 mutations showed that heterozygotes for the IVS1-1 mutation had significantly lower mean MCV and MCH (p = 0.023 and 0.007, respectively) and significantly higher hemoglobin A2 (p < 0.001) when compared to heterozygotes for the IVS-1 nt 6 mutation. PCR/RFLP was useful in identifying the presence or absence of IVS-1 nt 6, IVS-1 nt 1 and codon 39 mutations in most of the patients investigated here. This is the first study conducted in the state of Rio Grande do Norte, Brazil aimed at identifying beta thalassemia mutations and represents an important contribution to the knowledge regarding the molecular profile of beta thalassemia in our country
Resumo:
The acute myeloid leukemia (AML) is a disease in which malignant myeloblasts expand, build up and suppress normal hematopoietic activity would represent a major diagnostic challenge. With the advent of immunophenotyping by flow cytometry, the diagnosis of these tumors have become more faithful, facilitating the treatment and monitoring of patients. The objectives of this study: diagnosis and classification of AML based on immunophenotyping by flow cytometry with a panel of AcMo specific for acute leukemias, set the frequency of AML in samples from patients with acute leukemias sent to the Department of Hematology Blood Center of Rio Grande do Norte - HEMONORTE, establish standards of antigen expression for different subtypes of acute leukemia and its correlation with the newly diagnosed cases refractory to treatment and recurrence of the disease, standardization of methods for detection and labeling of surface antigens by flow cytometry and intracytoplasmic flow, and observe the frequency of acute leukemia with aberrant phenotypes rare. During the study, 351 were diagnosed acute leukemia, and 179 (51%) classified as AML and 172 (49%) and ALL, which were excluded from the present work. Of the 179 AML, 92 (51.4%) were female and 87 (48.6%) were male, with ages ranging from 3 to 95 years of ag, with higher incidence in individuals in the age group of 41 to 65. Splenomegaly was the clinical finding more present, a total of 147 cases (82.1%), followed by hepatomegaly present in 132 cases (73.7%). The hemorrhagic events were observed in 55 cases (30.7%). Lymphadenopathy in turn was detected in 20 of 179 cases (11.2%). In order to classify subtypes of AML, we used a large panel of monoclonal antibodies, obtaining the following results: AML M0, 02 (1.1%) AML M1, 40 (22.3) AML M2, 60 (33.5) AML M3, 22 (12.3%) AML M4, 10 (5.6) AML M5, 13 (7.3%) AML M6 06 (3.4%) and AML M7 01 (0.6%). We observed some cases with aberrant expression of some antigens such as CD7, CD4, CD19, CD3, CD5 and TdT, CD 7 was present in 30 (16.8%), CD4 in 5 (2.8%), the CD 3 in 5 (2.8%), the CD19 in 3 (1.7%), the CD5 in 3 (1.7%) and TDT was in 7 (3.9%) cases of AML .the CD8 and CD79a was present in only a 1 case.
Resumo:
Of all of the genes associated with the development of Diabetes mellitus type 1 (T1D), the largest contribution comes from the genes in the Human Leukocyte Antigen (HLA) region, mostly the class II DR e DQ genes. Specific combinations of alleles DRB1, DQA1 and DQB1 constituting haplotypes, and further, a combination of more than one haplotype, providing multilocus genotypes are associated with susceptibility, protection and neutrality to DM1. Thus, the aim of present study was to verified the association of polymorphisms of HLA genes class II with susceptibility to type 1 diabetes mellitus (T1D). Ninety-two patients with T1D and 100 individuals normoglycemics (NG) aged between 6 and 20 years were studied. Genomic DNA was obtained from peripheral whole blood, collected in EDTA tube, using the extraction kit Illustra Triple Prep®, GE Healthcare. For HLA typing was used DNA LABType system by One Lambda kit applying Luminex® technology to the method of PCRSSO typing reverse. The alleles DRB1*03:01, *04:05, *04:01, *04:02, DQA1*03:01g, *05:01g, DQB1*02:01g, *03:02, the haplotypes DRB1*03:01-DQA1*05:01-DQB1*02:01, DRB1*04:05-DQA1*03:01g-DQB1*03:02, DRB1*04:02-DQA1*03:01g-DQB1*03:02, DRB1*04:01-DQA1*03:01g-DQB1*03:02 and DR3-DQ2/DR4-DQ8 genotype were significantly associated with the chance of developing T1D. The alleles DRB1*11:01, *15:03, *15:01, *13:01, DQA1*01:02, *04:01g, *01:03, DQB1*06:02, *03:01g, *06:03, *04:02, the haplotypes DRB1*11:01-DQA1*05:01-DQB1*03:01, DRB1*13:01-DQA1*01:03-DQB1*06:03 and DRX-DQX/DRX-DQX genotype, formed by other than the DR3-DQ2 or DR4-DQ8 haplotypes, were significantly associated with T1D protection Despite the major racial Brazilian, even at the regional level, these results are similar to the majority of alleles, genotypes and haplotypes of HLA class II-related susceptibility or resistance to T1D, extensively described in the literature for Caucasian population. Children with age at diagnosis less than 5 years of age had significantly higher frequency of the heterozygous genotype DR3-DQ2/DR4-DQ8 compared to children with age at diagnosis than 5 years old. These results also demonstrate strong association of the genetic profile of the class II HLA for this age group, possibly associated with the severity and rapid progression to the onset of T1D. The knowledge of HLA class II genes may be useful in genetic screens that allow the prediction of T1D
Processos carioevolutivos na ordem tetraodontiformes: uma visão através de suas diferentes linhagens
Resumo:
Given the great diversity of fishes, the Order Tetraodontiformes stands to show genetic and morphological characteristics enough singular. The fishes of this order have a compact DNA which favors molecular studies, as well as comparisons with more basal species. Model of genome evolution, there are still many gaps in knowledge about their chromosomal patterns and how evolutionary rearrangements influence the marked variation in DNA content of this order. In view of this, we present cytogenetic analyzes of the species Acanthostracion quadricornis (Ostraciidae), A. polygonius (Ostraciidae) Melichthys niger (Balistidae) Cantherhines macrocerus (Monacanthidae) and C. pullus (Monacanthidae), Lagocephalus laevigatus, Colomesus psittacus and Canthigaster figueiredoi (Tetraodontidae), to contribute with cytogenetic data for this group. The analysis was performed by C-banding, Ag-RONs, coloring with base-specific fluorochromes DAPI-CMA3, restriction enzymes AluI, EcoRI, TaqI, PstI and HinfI and in situ hybridization with probes for ribosomal DNA 18S and 5S. The heterochromatic ultrastructure of A. quadricornis and A. polygonius revealed a outstanding heterochromatin content, which may indicate that the accumulation or loss of extensive heterochromatin content could be responsible for large variations in genomic content displayed in different Tetraodontiformes families. The species Cantherhines macrocerus, C. pullus (Monacanthidae) and Melichthys niger (Balistidae) shows a huge karyotypic similarity both numerically and structural. L. laevigatus showed similar cytogenetic features (2n = 44 and single RONs) to the species of the genus Takifugu, which reinforces the idea of their phylogenetic relationships. C. psittacus presented the highest diploid number described for the family (2n = 56) and large amount of HC, features that related with its sister family Diodontidae. Cytogenetic analysis in C. figueiredoi revealed heterochromatic polymorphisms, RONs multiple and Bs chromosomes. These events are rare in marine fishes, and are possibly associated with the strong restructuring and genomic reduction that this family has been suffered. These features, plus the morphological and molecular data suggests that these species share the same ancestral branch, with a possible monophyletic origin. In this study, new contributions to the knowledge of evolutionary patterns facing by Tetraodontiformes are provided and discussed under cytotaxonomyc, genomic and evolutionary perspectives.
Resumo:
The Knowledge Management in organizations is a continuous process of learning that is given by the integration of data, information and the ability of people to use this information. The Management Skills is concerned to understand the powers of officials in the face of organizational skills (teams) and professionals (or tasks positions) want. Joints are located in the greater context of the economy of organizatio s and have the same assumption: that the possession of scarce resources, valuable and difficult to imitate gives the organization a competitive advantage. In this sense, this thesis proposes a model of knowledge management based on analysis of GAP of powers, namely the gap between the skills needed to reach the expected performance and skills already available in the organization, officials and trainees of Coordination of Registration of conductors of DETRAN-RN. Using the method of survey research could make an analysis of academic skills, techniques and emotional individual and a team of officials and trainees, identifying levels of GAP's competence in that sector of the organization and suggest a plan for training , A level of expertise for each sector of coordination, and propose a model for Knowledge Management to help the management of GAP's identified
Resumo:
The usual programs for load flow calculation were in general developped aiming the simulation of electric energy transmission, subtransmission and distribution systems. However, the mathematical methods and algorithms used by the formulations were based, in majority, just on the characteristics of the transmittion systems, which were the main concern focus of engineers and researchers. Though, the physical characteristics of these systems are quite different from the distribution ones. In the transmission systems, the voltage levels are high and the lines are generally very long. These aspects contribute the capacitive and inductive effects that appear in the system to have a considerable influence in the values of the interest quantities, reason why they should be taken into consideration. Still in the transmission systems, the loads have a macro nature, as for example, cities, neiborhoods, or big industries. These loads are, generally, practically balanced, what reduces the necessity of utilization of three-phase methodology for the load flow calculation. Distribution systems, on the other hand, present different characteristics: the voltage levels are small in comparison to the transmission ones. This almost annul the capacitive effects of the lines. The loads are, in this case, transformers, in whose secondaries are connected small consumers, in a sort of times, mono-phase ones, so that the probability of finding an unbalanced circuit is high. This way, the utilization of three-phase methodologies assumes an important dimension. Besides, equipments like voltage regulators, that use simultaneously the concepts of phase and line voltage in their functioning, need a three-phase methodology, in order to allow the simulation of their real behavior. For the exposed reasons, initially was developped, in the scope of this work, a method for three-phase load flow calculation in order to simulate the steady-state behaviour of distribution systems. Aiming to achieve this goal, the Power Summation Algorithm was used, as a base for developping the three phase method. This algorithm was already widely tested and approved by researchers and engineers in the simulation of radial electric energy distribution systems, mainly for single-phase representation. By our formulation, lines are modeled in three-phase circuits, considering the magnetic coupling between the phases; but the earth effect is considered through the Carson reduction. Its important to point out that, in spite of the loads being normally connected to the transformers secondaries, was considered the hypothesis of existence of star or delta loads connected to the primary circuit. To perform the simulation of voltage regulators, a new model was utilized, allowing the simulation of various types of configurations, according to their real functioning. Finally, was considered the possibility of representation of switches with current measuring in various points of the feeder. The loads are adjusted during the iteractive process, in order to match the current in each switch, converging to the measured value specified by the input data. In a second stage of the work, sensibility parameters were derived taking as base the described load flow, with the objective of suporting further optimization processes. This parameters are found by calculating of the partial derivatives of a variable in respect to another, in general, voltages, losses and reactive powers. After describing the calculation of the sensibility parameters, the Gradient Method was presented, using these parameters to optimize an objective function, that will be defined for each type of study. The first one refers to the reduction of technical losses in a medium voltage feeder, through the installation of capacitor banks; the second one refers to the problem of correction of voltage profile, through the instalation of capacitor banks or voltage regulators. In case of the losses reduction will be considered, as objective function, the sum of the losses in all the parts of the system. To the correction of the voltage profile, the objective function will be the sum of the square voltage deviations in each node, in respect to the rated voltage. In the end of the work, results of application of the described methods in some feeders are presented, aiming to give insight about their performance and acuity
Resumo:
Despite advances in vaccine development and therapy, bacterial meningitis (BM) remains a major cause of death and long-term neurological disabilities. As part of the host inflammatory response to the invading pathogen, factors such as reactive oxygen species are generated, which may damage DNA and trigger the overactivation of DNA repair mechanisms. It is conceivable that the individual susceptibility and outcome of BM may be in part determined by non synonymous polymorphisms that may alter the function of crucial BER DNA repair enzymes as PARP-1, OGG-1 and APE-1. These enzymes, in addition to their important DNA repair function, also perform role of inflammatory regulators. In this work was investigated the non synonymous SNPs APE-1 Asn148Glu, OGG-1 Ser326Cys,PARP-1 Val762Ala, PARP-1 Pro882Leu and PARP-1 Cys908Tyr in patients with bacterial meningitis (BM), chronic meningitis (CM), aseptic meningitis (AM) and not infected (controls). As results we found increased frequency of variant alleles of PARP-1 Val762Ala (P = 0.005) and APE-1 Asn148Glu (P=0.018) in BM patients, APE-1 Asn148Glu in AM patients (P = 0.012) and decrease in the frequency of the variant allele OGG-1 Ser326Cys in patients with CM (P = 0.013), regarding the allelic frequencies in the controls. A major incidence of individuals heterozygous and/ or polymorphic homozygous in BM for PARP-1 Val762Ala (P= 0.0399, OD 4.2, 95% IC 1.213 -14.545) and PARP-1 Val762Ala/ APE-1 Asn148Glu (P = 0.0238, OD 11.111, 95% IC 1.274 - 96.914) was observed related to what was expected in a not infected population. It was also observed a major incidence of combined SNPs in the BM patients compared with the control group (P=0.0281), giving evidences that SNPs can cause some susceptibility to the disease. This combined effect of SNPs seems to regulate the principal cytokines and other factors related to BM inflammatory response and point the importance of DNA repair not only to repair activity when DNA is damaged, but to others essential functions to human organism balance.
Resumo:
Gossypium mustelinum Miers ex Watt is the only cotton species native from Brazil. It is endemic of the semi-arid region from North-east of the country, where it occur near from resilient water sources. The threats to the in situ conservation of the populations are caused by human interference in its habitat, mainly by excessive cattle graze and deforestation. Establish efficient strategies of in situ conservation depend on the accomplishment of a diagnosis of how the specie is found in its natural environment, and the knowledge about the genetic structure of the populations. The objectives of this work were i) to determine the in situ conditions of two populations present in rivers from basin of Rio Paraguaçu at the Bahia State, ii) to evaluate the structure and genetic variability presented in both populations, iii) to establish in situ and ex situ conservation strategies. It were realized collection in november 2007, when was realized in situ characterization of G. mustelinum. SSR markers were used for analyze 218 genotypes deriving from two populations of the G. mustelinum, localized at Tocó river and the Capivara river. The allelic frequencies, the heterozigosity and the F statics were estimated. All the plants were classified as wild and natives, and there was no evidence of the use the plants or its parts. The populations showed different conservation conditions in situ. Few plantlets were found in sites with excessive cattle feed, an indication that the damages in young plants should be high enough to compromise the renovation of the populations. On the other hand, populations were well preserved when the anthropic damages was low or inexistent. The 14 SSR primer pairs amplified 17 loci with a medium number of 5 alleles per locus (a total of 85 alleles). The high level of endogamy estimated (FIS=0,808) and the low observed heterozygosity (H0=0,093) were indicatives that the populations reproduce mainly by selfing, geitonogamy and crosses between related individuals. The genetic diversity was high (HE=0,482) and the differentiation between the populations was very high (FST=0,328). At least two sites from both populations of G. mustelinum must be preserved to achieve suitable in situ conservation. Actions that preserve the gallery forest and keep the cattle away should implemented, and could be as simple as erecting a fence. It is not possible anticipated if the in situ preservation will be possible. Therefore collections and ex situ preservation of representative specimens are essential to conserve the genetic diversity of native G. mustelinum
Resumo:
Matrix metalloproteinase-7 (MMP-7) and -9 (MMP-9) modulate important functions strictly related to the development, invasion and metastasis of several human cancers among them the squamous cell carcinoma of the tongue (SCCT). However, individual genetic factors such as the functional single nucleotide polymorphisms (SNPs) influence the pattern of protein expression of these MMPs and thus may be related to the variability observed in the clinical behavior of patients with SCCT. In this context, the present cross-sectional study aimed to evaluate the association between the frequency of the functional SNPs MMP-7 -181 A/G and MMP-9 -1562 C/T and the clinical (age, gender and metastasis) and pathological (malignancy histological grading and immunohistochemistry expression) features of SCCT cases. Genotyping of these SNPs were performed by PCR-RFLP on DNA samples from 71 cases of SCCT and 60 individuals without cancer who constitute the control group. Among the results of this research, it was observed that the frequency of the polymorphic alleles MMP-7 -181 G and MMP-9 -1562 T in SCCT patients was 28% and 12%, respectively, and the frequency of the heterozygotes A/G (PR = 2.00; p < 0.001) and C/T (PR = 1.54; p = 0.014) were significantly higher in the patient group than in the controls. The prevalence of patients carrying the combination of SNPs studied was significantly associated with SCCT cases (PR = 2.00; p = 0.011) and metastasis (PR = 2.00; p < 0.001). Furthermore, with the frequency of SNPs analyzed, the age, gender, histological grading and immunoreactivity of MMP-7 and MMP-9 formed clinical and pathological parameters relevant to the identification of population subgroups more related to the development of SCCT and metastasis. Based on these results, it is suggested that the protein expression levels of MMP-7 and -9 substantially influence the balance between their pro- and anticancer biological functions and hence the clinicopathological profile of the squamous cell carcinoma of the tongue
Resumo:
Brain injury can be associated with changes in the sleep-wake cycle. However, studies about sleep disturbances and their relationship with quality of sleep are scarce. Besides, it remains to be known how stroke affects the mechanisms of sleep. The aim of this study was to investigate quality of sleep, complaints of sleep disturbances and associated factors in stroke patients from the Physical Therapy services in Natal -RN. This was a cross-sectional descriptive study involving 70 individuals (aged 45-65 years), 40 patients (57 ± 7 years), 11 ± 9 months after injury, and 30 healthy individua ls (52 ± 6 years), evaluated with the Pittsburgh Sleep Quality Index (PSQI) and Sleep Habits Questionnaire. The data were analyzed by Chi-square test, t Student test and logistic regression. Poor quality sleep was found in 57,5% of the patients (6,3 ± 3,5) and was significantly higher than in the control population (3,9 ± 2,2) (t Student test, p=0,002). The patients showed significantly higher value of PSQI than controls: sleep latency (p=0,019), length of sleep (p=0,039) and dysfunction during the day (p=0,001). Regarding complaints of sleep disturbances (dyssomnias and parasomnias) analyzed by Chi-square test, the complaint of insomnia was the most prevalent (patients: 37,5%; healthy subjects: 6,7%; p=0,007). Regression analysis showed that sl eep latency (p=0,036) and complaint of insomnia (p=0,036) were associated with quality sleep. In addition, female gender (p=0,036) and complaint of broken sleep (p=0,003) were considered risk factors for the presence of insomnia. Our results show that stroke affects the homeostatic process of sleep. Shorter sleep latency and the absence of insomnia are considered protective factors for good sleep quality and this should be taken into consideration in the diagnostic and therapeutic strategies