Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population

Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in the β-globin family, which cause hereditary persistence of fetal hemoglobin (HPFH) and delta-beta thalassemia (δβ-thalassemia).The control of the production takes place by the regulatory region and regions outside the β-globin family, among them 2q16, 6q23, 8q, and Xp22.2.The aims of this study were to determine the presence and frequency of two mutations for δβ-thalassemia, the XmnI polymorphism and β-globin haplotypes in healthy individuals with increased Hb F in the State of São Paulo. We analyzed 60 samples of peripheral blood of healthy adults, without complaints of anemia. The samples were separated into two groups according to Hb F level: group I - 34 samples with Hb F ranging from 2 to 15% and group II - 26 samples with Hb F over 15%. In relation to the polymorphisms examined, we found three heterozygous individuals (5%) for Spanish δβ-thalassemia, belonging to group I, whose Hb F levels were within the normal range.The Sicilian δβ-thalassemia mutation was not found, indicating the need to study other polymorphisms related to the increase of Hb F in adult life.The frequency of XmnI polymorphism was 33.3% and the mean Hb F levels were 15.48 ± 11.69%.The frequency observed in our study for this polymorphic site is higher than that found in the literature for healthy subjects.This polymorphism was more prevalent in individuals with Hb F levels below 15%. For four samples positive for this polymorphism, the Hb F levels were explained by the presence of HPFH and Spanish δβ-thalassemia mutations, so that the presence of the XmnI polymorphic site was not a determinant in the overexpression of γ-globin genes. Regarding β-globin haplotypes, 18 alleles and 27 distinct genotypic patterns were found.The pattern Atp1/Atp2 was the mostfrequent genotype (13.72%).Of the 18 alleles, 13 showed atypical patterns.The results show that the haplotype V was the most frequent (27.45%), followed by atypical Atp2 (13.72%) and Atp1 (11.76%), and that there was a higher correlation with the presence of HPFH and XmnI polymorphism.The high frequency of haplotype V in our samples and high frequency of atypical haplotypes may reflect a high rate of miscegenation in this population, suggesting an ethnic characteristic for the Brazilian population, requiring the evaluation of population genetic markers to corroborate this hypothesis. © FUNPEC-RP.

Diversity and genetic population structure of the Brazilian sharpnose shark Rhizoprionodon lalandii

Similar to many small, range-restricted elasmobranchs, the Brazilian sharpnose shark (Rhizoprionodon lalandii) is listed as 'data deficient' by the International Union for the Conservation of Nature (IUCN). Data on stock assessment and sustainability are scarce, and there is no information on population structure. This constitutes a management problem because this shark comprises approximately 50% of the catch of small coastal sharks in Brazil. In this study, populations of R. lalandii distributed from the Caribbean to southern Brazil were investigated using sequences from the mitochondrial DNA control region. Analysis of molecular variance revealed strong structuring between population samples from the Caribbean and those from the Brazilian coast (F{cyrillic}ST=0.254, P<0.0001). Significant differences in the rates of genetic diversity between these major areas were also detected. The observed levels of population structuring are likely to be driven by female phylopatry. Therefore, the identification of both mating and nursery areas with parallel ban/restriction of fishing in these areas may be critical for the long-term sustainability of these populations. © 2013 John Wiley & Sons, Ltd.

Atrophic gastritis: Risk factor for esophageal squamous cell carcinoma in a Latin-American population

AIM: To study the association between atrophic gastritis (AG) and esophageal squamous cell carcinoma (ESCC) in a Latin-America population. METHODS: A case-control study was performed at two reference Brazilian hospitals including patients diagnosed with advanced ESCC and dyspeptic patients who had been subjected to upper gastrointestinal endoscopy, with biopsies of the gastric antrum and body. All cases with ESCC were reviewed by a single pathologist, who applied standard criteria for the diagnosis of mucosal atrophy, intestinal metaplasia, and dysplasia, all classified as AG. The data on the patients' age, sex, smoking status, and alcohol consumption were collected from clinical records, and any missing information was completed by telephone interview. The association between AG and ESCC was assessed by means of univariate and multiple conditional logistic regressions. RESULTS: Most patients were male, and the median age was 59 years (range: 37-79 years) in both the ESCC and control groups. Univariate analysis showed that an intake of ethanol greater than 32 g/d was an independent risk factor that increased the odds of ESCC 7.57 times (P = 0.014); upon multiple analysis, alcohol intake of ethanol greater than 32 g/d exhibited a risk of 4.54 (P = 0.081), as adjusted for AG and smoking. Smoking was shown to be an independent risk factor that increased the odds of ESCC 14.55 times (P = 0.011) for individuals who smoked 0 to 51 packs/year and 21.40 times (P = 0.006) for those who smoked more than 51 packs/year. Upon multiple analyses, those who smoked up to 51 packs/year exhibited a risk of 7.85 (P = 0.058), and those who smoked more than 51 packs/year had a risk 11.57 times higher (P = 0.04), as adjusted for AG and alcohol consumption. AG proved to be a risk factor that increased the odds of ESCC 5.33 times (95%CI: 1.55-18.30, P = 0.008) according to the results of univariate conditional logistic regression. CONCLUSION: There was an association by univariate conditional logistic regression between AG and ECSS in this sample of Latin-American population. © 2013 Baishideng.

Initial description of the phylogeography, population structure and genetic diversity of Atlantic spotted dolphins from Brazil and the Caribbean, inferred from analyses of mitochondrial and nuclear DNA

We provide initial information regarding the population structure and genetic diversity of Stenella frontalis from the Caribbean and southeastern Brazil from analyses of mitochondrial control region sequences and sequences from the first intron of the α-lactalbumin gene. Comparisons with previously described S. frontalis sequences showed a high number of haplotypes shared between populations throughout their distribution range. High diversity was found for southeastern Brazil and Caribbean samples, and population structure analyses indicate significant differentiation among population units at the FST level, but not at the ΦST level. Significant differentiation at the FST level was found between the Caribbean population unit and all other populations units. These results suggest historical or present connectivity between the Azores and Madeira and the southeastern Brazil groups and population differentiation between the Caribbean and southeastern Brazil, supporting the notion of two separate stocks in the waters around the Atlantic coast of South America. © 2013 Elsevier Ltd.

Population, social equity and changing production patterns

Includes bibliography

Descriptive study of HTLV infection in a population of pregnant women from the state of Pará, Northern Brazil

INTRODUÇÃO: No Brasil, estudos mostram que a soroprevalência do HTLV entre gestantes varia de 0 a 1,8%. Contudo, esta soroprevalência era desconhecida no Estado do Pará, Brasil. O presente estudo descreve, pela primeira vez, a soroprevalência do HTLV entre gestantes do Estado do Pará, Norte do Brasil. MÉTODOS: 13,382 gestantes foram submetidas à triagem para HTLV durante o pré-natal, e aquelas com sorologia alterada para anti-HTLV foram submetidas ao teste de Western Blot (WB), para confirmar e discriminar portadoras do HTLV-1 e do HTLV-2. RESULTADOS: A soroprevalência do HTLV na população de gestantes foi de 0,3%, sendo o HTLV-1 identificado em 95,3% das pacientes. O perfil demográfico das portadoras do HTLV foi de: mulheres com idade entre 20-40 anos (78,4%); residentes na região metropolitana de Belém (67,6%) e com nível educacional igual ao ensino médio (56,8%). Outras variáveis relacionadas à infecção foram: início das relações sexuais compreendido entre 12-18 anos (64,9%), e ter sido aleitada mais de 6 meses (51,4%). A maior parte das mulheres estudadas teve ao menos duas gestações anteriores (35,1%); e nenhum aborto (70,3%). Co-infecções (sífilis e HIV) foram descritas em 10,8% (4/37) das gestantes. A soroprevalência da infecção pelo HTLV em gestantes atendidas em Unidades Básicas de Saúde do Estado do Pará, Norte do Brasil foi de 0,3% semelhante à descrita em outros estudos brasileiros. As variáveis relacionadas com a infecção são indicadores importantes na identificação de gestantes com maior tendência a soropositividade pelo HTLV, sendo uma estratégia de controle e prevenção, evitando a transmissão vertical.

Population structure of Lutjanus purpureus (Lutjanidae - Perciformes) on the Brazilian coast: further existence evidence of a single species of red snapper in the western Atlantic

ABSTRACT: The present study focus on the mitochondrial control region to investigate phylogeographic patterns and population structure in Lutjanus purpureus, and to evaluate the genetic similarity between L. purpureus and L. campechanus. For the initial analysis, 810 base pairs sequence from control region were obtained from 239 specimens of L. purpureus collected from four localities off the Brazilian coast. The results revealed the presence of a single panmictic population characterized by high values of genetic diversity. The 299 base pairs hypervariable portion were used for the combined analysis of L. purpureus and L. campechanus, being 275 haplotypes identified in the 414 specimens. Phylogenetic tree and haplotype network did not indicate phylogeographic substructuring between the two species, but rather an intense intermingling of individuals. Considering their marked morphological similarity, the molecular data presented here indicatethat only one species of red snapper exists in the western Atlantic.

Inclusion of South American samples reveals new population structuring of the blacktip shark (Carcharhinus limbatus) in the western Atlantic

ABSTRACT: Carcharhinus limbatus has a cosmopolitan distribution and marked genetic structuring, mainly because of its philopatric behavior. However, analysis of this structuring has not previously included South American populations. In the present study, we analyzed a sample of adult individuals collected on the northern coast of Brazil and compared the sequences of the mitochondrial control region with those of populations already genotyped. Relatively high haplotype diversity (12 haplotypes, genetic diversity of 0.796) was observed, similar to that in other populations but with a much larger number of private alleles. In contrast to populations studied previously, which were represented by neonates, the pronounced allelic variability found in the South American individuals may have resulted from migrations from other populations in the region that have yet to be genotyped. This population was also genetically distinct from the other Atlantic populations (Fst > 0.8), probably because of female philopatry, and apparently separated from the northwestern Atlantic group 1.39 million years ago. These findings indicate that the C. limbatus population from northern Brazil is genetically distinct from all other populations and should be considered as a different management unit for the protection of stocks.

Increased risk of venous thrombosis by AB alleles of the ABO blood group and Factor V Leiden in a Brazilian population

Most cases of a predisposition to venous thrombosis are caused by resistance to activated protein C, associated in 95% of cases with the Factor V Leiden allele (FVL or R506Q). Several recent studies report a further increased risk of thrombosis by an association between the AB alleles of the ABO blood group and Factor V Leiden. The present study investigated this association with deep vein thrombosis (DVT) in individuals treated at the Hemocentro de Pernambuco in northeastern Brazil. A case-control comparison showed a significant risk of thrombosis in the presence of Factor V Leiden (OR = 10.1), which was approximately doubled when the AB alleles of the ABO blood group were present as well (OR = 22.3). These results confirm that the increased risk of deep vein thrombosis in the combined presence of AB alleles and Factor V Leiden is also applicable to the Brazilian population suggesting that ABO blood group typing should be routinely added to FVL in studies involving thrombosis.

The AIDS epidemic in the Amazon region: a spatial case-control study in Rondonia, Brazil

OBJETIVO Analisar mudanças espaciais no risco de Aids e a relação entre incidência da doença e variáveis socioeconômicas. MÉTODOS Estudo caso-controle espacial, de base populacional, realizado em Rondônia, Brasil, com 1.780 casos notificados pelo Sistema de Vigilância Epidemiológica e os controles a partir de dados demográficos de 1987 a 2006. Os casos foram agrupados em cinco períodos de cinco anos consecutivos. Um modelo aditivo generalizado foi ajustado aos dados. O status dos indivíduos (caso ou controle) foi considerado como a variável dependente e independente: um alisamento ( spline ) bidimensional das coordenadas geográficas e variáveis socioeconômicas municipais. Os valores observados para o teste Moran I foram comparados com a distribuição de referência dos valores obtidos em condições de aleatoriedade espacial. RESULTADOS O risco de Aids apresentou padrão espacial e temporal marcado. A incidência associou-se a indicadores socioeconômicos municipais, como urbanização e capital humano. As maiores taxas de incidência de Aids ocorreram em municípios ao longo da rodovia BR-364; os resultados do teste Moran I mostram correlação espacial positiva associada à contiguidade dos municípios com a rodovia, no terceiro e quarto períodos (p = 0,05). CONCLUSÕES A incidência da doença foi maior em municípios de maior riqueza econômica e urbanização e naqueles cortados pelas estradas principais de Rondônia. O rápido desenvolvimento associado à ocupação de regiões remotas pode ser acompanhado por aumento de riscos à saúde.

Population Dynamics of Lepidoptera Pests in Eucalyptus urophylla Plantations in the Brazilian Amazonia

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Polymorphic Sites at the 3 ' Untranslated Region of the HLA-G Gene Are Associated with Differential hla-g Soluble Levels in the Brazilian and French Population

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Phox2b-expressing retrotrapezoid neurons and the integration of central and peripheral chemosensory control of breathing in conscious rats

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

A Method to Estimate the Population Level of Aceria litchii (Prostigmata: Eriophyidae) and a Study of the Population Dynamics of This Species and Its Predators on Litchi Trees in Southern Brazil

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

Type-2 diabetes mellitus and the frequency of the G22A polymorphism of the adenosine deaminase gene in a mixed population in Brazil

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)