968 resultados para Predisposição genética para doença


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The study analyzes how middle-school students view Hansen's disease, which constitutes a public health problem in Brazil. A questionnaire was presented to 159 8th-grade students at three schools, two state and one private. Responses were analyzed by category, with results organized according to knowledge, prejudice about the disease, and the importance of health-education campaigns. The students displayed no scientific knowledge of the disease, although they also showed little prejudice. In terms of educational campaigns, it was concluded that more information of an up-to-date nature should be offered at schools as a way of reaching most of the population.

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Chronic obstructive pulmonary disease (COPD) is considered the forth cause of death in the world. The present review summarizes the epidemiologic and risk factors to the disease. Emphasizing the diagnostic, pulmonary function, radiological alterations and blood gases. According to the current guideline recommendations, the authors reviewed the classification and treatment. © Copyright Moreira Jr. Editora. Todos os direitos reservados.

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Lettuce big vein associated virus (LBVaV) and Mirafiori lettuce big vein virus (MLBVV) have been found in mixed infection in Brazil causing the lettuce big vein disease. Analysis of part of the coat protein (CP) gene of Brazilian isolates of LBVaV collected from lettuce, showed at least 93% amino acid sequence identity with other LBVaV isolates. Genetic diversity among MLBVV CP sequences was higher when compared to LBVaV CP sequences, with amino acid sequence identity ranging between 91% to 100%. Brazilian isolates of MLBVV belong to subgroup A, with one RsaI restriction site on the coat protein gene. There is no indication for a possible geografical origin for the Brazilian isolates of LBVaV and MLBVV.

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There were analyzed 4757 complete lactations of the Murrah breed, daughters of 187 bulls, with the goal of verifying the viability upon employing the test-day (PDLC), on substitution of the milk yield at 305th day of lactation (PL305), in the genetic evaluations. The components of variance for the PDLC1 to PDLC9 and for the PL305 were estimated in uni-traits analysis according to maximum restricted likelihood method. The used model included the genetic direct additive random effects, of residual and permanent environment. There were considered as fixed effects, the contemporary group and the number of milkings and the age of the cow at the moment of parity co-variable (quadratic and linear effect). The contemporary groups were constituted by the herd-year-month of control for the PDLC and by herd-year-epoch of parity for PL305. The estimates of heritability for the PDLC and PL305 were 0.12 to 0.23 and 0.22, respectively. The correlations of order of the predicted genetic values for the 187 bulls, obtained between the PDLC and the PL305, were from moderate to high, varying from 67.74 to 83.12. From the minimum selection of the 10% of the best bulls relating to the predicted genetic value for the PL305, the coincidence among the classification of these animals was over 68%, when evaluated by the PDLC3,PDLC4,PDLC5 and PDLC6. Upon selecting the 5% of the best animals that coincidence presented a lower value.

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Brazil is one of the world's richest countries in forest biodiversity. This has a great importance for humanity for sheltering essential scientific potential for the improvement in the quality of living beings. It also contributes to the preservation of natural resources and the environment. Among Brazil's forest species, jenipapo (Genipa americana L.) is commonly found in riparian vegetation. The objective of this work was to quantify the genetic variability of biochemical traits of seeds, as a support for in situ and ex situ conservation of natural populations of G. americana L. Two populations of the species were studied: one from Ilha Solteira, SP region (ISA) and other from Mogi Guaçu, SP (MOG). In the ISA population, seeds were collected from 30 trees, and in the MOG population, from 22 trees. These seeds were analyzed for chemical composition: content of proteins, carbohydrates, lipids and starch. The two populations of G. americana studied had a great genetic variation for these traits. The population ISA had an additive and phenotypic correlation, which was negative and high for starch with lipid; and positive and medium, for lipid with prolamine, as well as for globulin with prolamine. The population MOG presented additive and phenotypic correlations: positive and medium for gluteline with globulin. In these populations, narrow sense heritability estimates of progenies were moderate (0.69 for carbohydrates in the population ISA) to high (0.81 to 0.99 for the other traits in the two populations), indicating that much progress can be expected with selection strategies.

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Sickle cell disease is an inflammatory condition with a pathophysiology that involves vaso-occlusive episodes. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes are risk factors for vascular disease. Due to the importance of identifying risk factors for vaso-occlusive events in sickle cell patients, we investigated the frequencies of the C677T and 844ins68 mutations of the MTHFR and CBS genes, respectively. Three hundred patients with Hb SS, HB SC and HbS/Beta thalassemia, from Brasília, Goiânia, Rio de Janeiro, São Jose do Rio Preto and São Paulo were evaluated. Samples of 5 mL of venous blood were collected in EDTA after informed consent was received from patients. Classical diagnostic methods were used to confirm the hemoglobin phenotypes. The hemoglobin genotypes and polymorphisms studied were evaluated by Restriction Fragment Length Polymorphism and Allele Specific amplification. The results showed that 93 patients (31.00%) were heterozygous and 13 (4.33%) homozygous for the C677T mutation and 90 were heterozygotes (30.00%) and 8 homozygous (2.66%) for the 844ins68 mutation, both with significant differences for genotype frequency between the localities. The allelic frequencies are in Hardy-Weinberg equilibrium for both polymorphisms. The frequency of mutations was significant and the presence of related vaso-occlusive events was more common in patients with Hb SS (p = 0007). The 844ins68 mutation was approximately three times more frequent in patients with vaso-occlusive complications (p = 0011). The C677T mutation did not prove to be associated with risk of vaso-occlusive events (p = 0.193). A C677T-844ins68 interaction occurred in 12.08% of the patients, doubling the risk of vaso-occlusive manifestations. The frequencies of the polymorphisms are consistent with those expected in the Brazilian population. The presence of the 844ins68 mutation of the CBS gene proved to be a potential risk factor for vaso-occlusive events in sickle cell patients.

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The chronic kidney disease (CKD) it is characterized by irreversible structural lesions that can develop progressively for uremia and chronic renal failure (CRF). In the CRF it happens the incapacity of executing the functions of maintenance of the electrolyte balance and acid-base, catabolitos excretion and hormonal regulation appropriately. When the mechanism basic physiopathology of the renal upset is analyzed, it is observed that present factors, predispose to the unbalance oxidative. Most of the time, the renal patient comes badly nurtured, with lack in reservations of vitamins and minerals, what reduces the antioxidant defense mechanisms, what favors the installation of the renal oxidative stress, with the formation of species you reactivate of reactive oxygen species (ROS), substances these potentially harmful to the organism. The reduction of the glomerular filtration rate (GFR) in the evolution of CKD in dogs and cats is a component for the installation of the renal oxidative stress. The ROS possesses important action in the kidneys, and these substances are highly reactivate, and when presents in excess damage lipids, proteins, DNA and carbohydrate, driving functional and structural abnormalities taking the cellular apoptosis and necrosis. Against the harmful potential action of these substances you reactivate, she becomes fundamental a delicate control of his production and consumption in the half intracellular, in other words, a balance of his concentration intra and extracellular. That is possible due to the activity of the antioxidants. Like this, to present literature revision had as objective describes the participation of the oxidative stress in CRF, as well as the mechanisms defenses against the harmful action of those substances.

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The aim of this study was to investigate the genetic variation, the genotype × soil interaction and the selection among and within Corymbia citriodora progenies in three different kinds of soils (Red Latossol, Quartz Sand and Purple Latossol), which occur in the Luiz Antônio Experimental Station, São Paulo State, Brazil. The progeny test was established 1983, using 56 open-pollinated families of C. citriodora. Twenty fve years after planting the following traits were measured: height, diameter at breast height (Dbh), stem form and survival. Best growth occurred in Purple Latossol. Significant differences among progenies were detected for most traits in all sites, suggesting the possibility of improvement by selection. In the analysis with sites, Significant differences among locals, progenies and genotypes × soil interaction were detected, confiming that the tested material has sufficient genetic variation to be explored by selection in all sites. The analysis of genotype × soil interaction indicates that growth traits present single interaction and the same progenies can be selected in each site. On the order hand, genotype × soil interaction for stem form and survival was complex; and specifc progenies need to be selected for each kind of soil. The population, due to its high genetic variation and strong genetic control of traits, permits to obtain considerable genetic gains by selection among and within progenies.

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Eucalyptus camaldulensis has great importance in Brazil because of their phenotypic plasticity for different environmental conditions, as soils, altitudes and rainfall. This study is an investigation of a base population of E. camaldulensis from Australia through a progeny test implanted in Selvíria, MS. The trial was established in a randomized block design, with 25 families and 60 replications of single tree plots. Genetic parameters for anatomic traits and volume shrinkage were estimated, as well as their correlations with wood basic density. No significant differences among progenies were observed for the traits studied. The additive genetic variation coefficient at individual and among progeny levels ranged from low (0.26%) to high (16.98%). The narrow sense heritability at individual and family means levels also ranged from low (0.01) to high (0.87). This indicates that some traits are under strong genetic control and can be improved by selection. In the present situation, in order to attain the highest genetic gains, the sequential selection among and within progeny would be recommended.

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The aims of this study were to evaluate the variation and to estimate genetic parameters for silvicultural anatomic wood traits for genetic breeding of a Myracrodruon urundeuva (Engler) Fr. Allem, population from Selvíria-MS. For this, from samples of a progeny test established in the Fazenda de Ensino, Pesquisa e Extensão da Faculdade de Engenharia de Ilha Solteira/UNESP, macroscopic anatomic wood traits of M. urundeuva (tangential diameter and vases frequency per mm2) and growth traits were measured (height, DBH and stem form). Genetic parameters were estimated in 28 open-pollinated progenies, in three replications and 10 plants per plot, using a REML/BLUP approach. Between the analysed traits, the DBH is the most indicated for selection for timber production, because it presented the highest values of coefficient of genetic variation, heritabilities and selective accuracy. Between the anatomic traits, the vessels frequency in the pith showed the highest values for genetic parameters. For pulp yield, based on the multi-effect index, the strategy of selecting the best trees for vessels frequency in the pith, independent of the progeny, permitted to obtain substantial gains by mass selection, without progeny test.

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In addition to cognitive impairment, apathy is increasingly recognized as an important neuropsychiatric syndrome in Alzheimer's disease (AD). Aims: To identify the relationship between dementia severity and apathy levels, and to discuss the association of this condition with other psychopathological manifestations in AD patients. Methods: This study involved 15 AD patients (mean age: 77 years; schooling: 4.9 years), with mild, moderate and severe dementia, living in Rio Claro S P, Brazil. Procedures included evaluation of cognitive status by the Mini-Mental State Examination, Clinical Dementia Rating, and Global Deterioration Scale. Apathy syndrome was assessed by the Apathy Evaluation Scale and Neuropsychiatric Inventory (NPI-apathy domain). Other psychopathological manifestations such as depression were also considered. Results: Patients with more severe dementia presented higher levels of apathy, reinforcing the hypothesis that apathy severity aggravates as the disease progresses. Using the Spearman coefficient correlation an association was identified between the MMSE and Apathy Evaluation Scale (r=0.63; p=0.01), and also between the MMSE and NPI-apathy domain (r=0.81; p=0.01). Associations were also found between the Global Deterioration Scale and Apathy Evaluation Scale (r=0.58; p=0.02), and between the Global Deterioration Scale and NPI-apathy domain (r=0.81; p=0.01). Conclusions: Apathy is a distinct syndrome among patients with AD and increases with global deterioration.

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The present review summarizes the clinical aspects, diagnostics criteria and treatment of Chronic Obstructive Pulmonary Disease (COPD). Besides, will be reviewed the systemic manifestations associated with COPD and its clinical relevance in the patient's follow up. © Copyright Moreira Jr. Editora.

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The rambutan (Nephelium lappaceum) is an exotic fruit with great market potential in Brazil. However, there are few available informations about plants with potential for cultivation, because great morphologic variation is observed among plants and for consequence, little uniformity in the orchards and in the fruits. This research had for objective to evaluate the genetic diversity of a collection of rambutan plants obtained by seeds through morfo-chemical analyses of plants and fruits and by fAFLP molecular markers, to indication of promising materials to be used in new plantings of the culture in the São Paulo State. Was verified that both markers, morphologic and molecular, were efficient in the distinction of varieties, showing the presence of genetic variability among the plants of this study. Was also verified that the materials A51 and B03 presented a larger group of desirable characteristics for new cultivations of the fruitful.