ABSTRACT
Astrocaryum aculeatum, a palm tree incipiently domesticated from upland ecosystems in the Brazilian Amazon, is especially adapted to anthropized areas. The pulp of the fruit, obtained by extractivism, is consumed fresh by the Amazonian population. The objective of the study is to evaluate the diversity and genetic structure of the natural populations of A. aculeatum, exploited by extractive farmers in Amazonas, Brazil, seeking to suggest conservation and management strategies for this species. A total of 218 plants were sampled in 15 populations in 14 municipalities in the state of Amazonas, evaluated by 12 microsatellite loci. A total of 101 alleles were observed. The means of the observed heterozygosities (HO = 0.6390) were higher than expected (HE = 0.557), with high levels of heterozygotes in the populations. The fixation index in the loci and populations was negative. The FST (0.07) and AMOVA showed moderate population structure. Bayesian analysis indicated the grouping k = 4 as the most adequate. There is a high genetic diversity in populations, with a moderate genetic structure due to possible historical events, which could be related to the process of subpopulation formation, possibly presenting three historical moments: before and after the beginning of deforestation and today. The conservation and management policies of this species must be carried out at a watershed level.
ABSTRACT
Dermatomyositis (DM) is a systemic autoimmune disease that affects skeletal muscles, the skin, and the lungs. It is characterized by autoantibodies, tissue inflammation, parenchymal cell damage, death, and vasculopathy. In terms of epidemiology, DM affects both children and adults. The current pathophysiology of DM is described as an autoimmune attack on the afflicted organs driven by environmental variables such as UV exposure, medications, infections, and lifestyle choices in genetically predisposed people. DM is also a paraneoplastic condition, which means that cancer may arise before, along with, or following the development of the symptoms of DM. Myositis-specific autoantibodies are associated with phenotypical features and are used for sub-classification of dermatomyositis patients. Because the risk of interstitial lung disease (ILD), internal malignancy, destructive disease trajectory, and maybe a response to medication differs by DM myositis-specific antibody (MSA) group, a better knowledge of MSAs and the validation and standardization of tests employed for detection is crucial for improving diagnosis and treatment. The diagnostic sensitivity and specificity of tests for various MSAs are not ideal, just like with any other test. However, more antibody tests are anticipated to make their way into formal schemata for diagnosis and actionable risk assessment in DM due to worldwide standardization and more extensive research. In this review, we outline crucial aspects for interpreting clinical and pathologic relationships with MSA in DM and critical knowledge and practice gaps that will optimize the clinical benefit and utility of MSAs as diagnostic and prognostic markers.
ABSTRACT
Introduction: In spite nearly 40% of the variability in blood pressure can be explained by genetic factors, the identification of genes associated to essential high blood pressure is difficult in populations where individuals have different genetic precedents; in these circumstances it is necessary to determinate whether the population is sub-structured because this can bias studies associated with this disease.Objectives: To determine the genetic structure of the population in Bucaramanga from genetic polymorphisms associated with the regulation of blood pressure: 448G>T, 679C>T y 1711C>T from the gene kinase 4 of the dopaminergic receptor linked to the protein G and Glu298Asp, -786T>C and the VNTR of the intron 4 of the gene of endothelial nitric oxide.Methodology: A sample of 552 unrelated individuals was studied through analysis of Restriction fragment length polymorphism. The allelic, haplotypic and genotypic frequencies were calculated, the Hardy-Weinberg equilibrium was determined and a molecular analysis of variance was performed to determine the genetic structure.Results: 38 Haplotypes were identified, with GCCTG4b as the most frequent (21.2%). The most diverse polymorphism was 448G>T with a frequency of 49.9% for heterozygous. The six polymorphisms were found in genetic equilibrium and genetic structure of populations was not evidenced (FST = 0,0038).Conclusion: The population studied does not present a genetic sub-structure and the polymorphisms analyzed were found in genetic equilibrium, this indicates that the population mixes randomly and there are no sub-groups capable of affecting the results of the association studies