Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.

OBJECTIVE: Perform genotyping of SNPs in the promoter region of the SMO gene in BCC samples from patients from northeastern Brazil, and to determine if there is an association of these SNPs of the gene in question with the susceptibility to the development of the BCC. METHODS: 100 samples of paraffined tissue from patients with histopathological diagnosis of BCC and 100 control samples were analyzed for each polymorphism by a newly developed genotyping method, the Dideoxy Single Allele Specific - PCR. The software Bioestat - version 5.3 and Haploview 4.2 were used for the statistical analysis. For all tests a P-value.

Nanoemulsions Loaded with Amphotericin B: Development, Characterization and Leishmanicidal Activity.

Leishmaniasis is one of the most neglected diseases in the world. Its most severe clinical form, called visceral, if left untreated, can be fatal. Conventional therapy is based on the use of pentavalent antimonials and includes amphotericin B (AmB) as a second-choice drug. The micellar formulation of AmB, although effective, is associated with acute and chronic toxicity. Commercially-available lipid formulations emerged to overcome such drawbacks, but their high cost limits their widespread use. Drug delivery systems such as nanoemulsions (NE) have proven ability to solubilize hydrophobic compounds, improve absorption and bioavailability, increase efficacy and reduce toxicity of encapsulated drugs. NE become even more attractive because they are inexpensive and easy to prepare. The aim of this work was to incorporate AmB in NE prepared by sonicating a mixture of surfactants, Kolliphor® HS15 (KHS15) and Brij® 52, and an oil, isopropyl myristate. NE exhibited neutral pH, conductivity values consistent with oil in water systems, spherical structures with negative Zeta potential value, monomodal size distribution and average diameter of drug-containing droplets ranging from 33 to 132 nm. AmB did not modify the thermal behavior of the system, likely due to its dispersion in the internal phase. Statistically similar antileishmanial activity of AmB-loaded NE to that of AmB micellar formulation suggests further exploring them in terms of toxicity and effectiveness against amastigotes, with the aim of offering an alternative to treat visceral leishmaniasis.

Single-Nucleotide Polymorphisms of the MSH2 and MLH1 Genes, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.

Basal cell carcinoma - BCC is considered a multifactorial neoplasm involving genetic, epigenetic and environmental factors. Where UVB radiation is considered the main physical agent involved in BCC carcinogenesis. The Brazil and state of Paraíba are exposed to high levels of UVB rays. The mismatch repair - MMR is important DNA repair mechanisms to maintain replication fidelity. Therefore, single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in MMR may be potential molecular markers of susceptibility to BCC. The objective of this study was to evaluate and describe for the first time the SNPs rs560246973, rs2303425 and rs565410865 and risk of developing BCC. The present study analyzed 100 samples of paraffin-embedded tissue from patients with histopathological diagnosis of BCC and 100 control samples. The results were obtained by genotyping method, Dideoxy Unique Allele Specific - PCR (DSASP). The SNPs rs2303425 were not associated with Basal Cell Carcinoma. However, the SNPs rs560246973 and rs565410865 was shown to be associated with the development of BCC when compared to control samples (P < 0.0001). The SNPs rs565410865 was also statistical significance between the genotypes of and the age group (p = 0.0027) and tumor location (p = 0,0191). The result suggests that SNPs rs2303425 and rs565410865 are associated with susceptibility to the development of BCC in the Brazilian population and may be considered as potential molecular markers for BCC.

[Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil]. / Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil.

Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.

As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil / Prevalence of hemoglobin variants in quilombola communities in the state of Piauí, Brazil

Resumo As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem frequência elevada na América, enquanto que no Brasil é maior no Sudeste e Nordeste. O presente artigo tem por objetivo investigar a presença de hemoglobinas variantes em 15 comunidades quilombolas do estado do Piauí. Foram analisadas 1.239 amostras, nas quais as hemoglobinas foram triadas pela cromatografia líquida de alta eficiência (HPLC). Aplicou-se questionário referente a gênero, etnia e consanguinidade das populações. Das 1.239 amostras, 5,4% apresentaram o traço falciforme AS, as doenças falciformes SS e SC apareceram em 0,8% do total, nas hemoglobinas AC, AD e DD. Das 1.069 pessoas negras, 84 apresentaram alteração das hemoglobinas; destas, 34 eram do sexo masculino e 53 do feminino. Ocorreu a presença de 13 casamentos consanguíneos dentre as 84 alterações das hemoglobinas. O estudo das hemoglobinas variantes em 15 comunidades remanescentes de quilombos do Piauí contribui para sua educação em saúde frente aos aspectos da herança genética destas proteínas, relevante questão de saúde pública, proporcionando subsídios para a implantação do Programa Estadual da Doença Falciforme do Piauí.

Abstract Hemoglobin variants (Hb) result from mutations in globin genes, with amino acid substitution in the polypeptide chain. Among the most common structural variants are HbS, HbC, HbD and HbE. The S hemoglobin gene is a high frequency gene across America and Brazil, where it is more frequent in the Southeast and Northeast. The scope of this article is to investigate the presence of hemoglobin variants in 15 quilombos (fugitive slave communities) of Piaui. The sample was of 1,239 people and hemoglobin was screened by high-performance liquid chromatography (HPLC). A questionnaire was applied related to gender, ethnicity and consanguinity. Of the samples analyzed, 5.4% had AS sickle cell trait, while SS and SC sickle cell anemia showed a rate of 0.8%, with AC, AD and DD hemoglobin. Of the 1,069 Afro-descendants, 84 revealed hemoglobin abnormalities, 34 being male 53 being female. There were 13 consanguineous marriages among the 84 hemoglobin alterations. The study of hemoglobin variants in 15 former quilombo communities in the state of Piaui contributes to their education in health in the aspects of genetic inheritance of hemoglobin, a relevant public health issue, providing input for the implementation of the State Program of Sickle Cell Disease of Piaui.

Dideoxy single allele-specific PCR - DSASP new method to discrimination allelic

Gastric cancer (GC) is a multifactorial disease with a high mortality rate in Brazil and worldwide. This work aimed to evaluate single nucleotide polymorphisms (SNP) rs1695, in the Glutathione S-Transferase Pi (GSTP1) gene in GC samples by comparative analysis Specific PCR - ASP and Dideoxy Single Allele-Specific PCR - DSASP methods. The DSASP is the proposed new method for allelic discrimination. This work analyzed 60 GC samples, 26 diffuse and 34 intestinal types. The SNP rs1695 of the GSTP1 gene was significantly associated with GC analyzed by DSASP method (χ2 = 9.7, P < 0.05). A comparative analysis of the data obtained from both methods did not differ significantly (χ2 = 0.08, P > 0.05). These results suggest that the SNP rs1695 of the GSTP1 gene was a risk factor associated with gastric carcinogens is and the DSASP method was a new successfully low-cost strategy to study allelic discrimination.

Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and GSTP1 (rs1695) in gastric cancer development in samples of patient in the northern and northeastern Brazil.

Cancer is a multifactorial disease with a high mortality rate in Brazil and worldwide. Gastric cancer (GC) is considered the fourth type of malignancy more frequent in the population worldwide and the second leading cause of death. This work aimed to evaluate single nucleotide polymorphisms (SNPs) of IFNGR1, GSTT1, and GSTP1 genes samples in gastric cancer. We analyzed 60 samples of gastric cancer, 26 diffuse and 34 intestinal types, totaling 120 alleles for each SNP. The results were obtained by PCR and allele-specific PCR. Statistical analyzes performed using BioEstat 5.0 software, applying the Fisher's exact test and chi-square. Only the SNP gene GSTP1 (rs1695) were significantly associated with gastric cancer in the samples analyzed (χ(2) = 8.73, P < 0.05). Our results suggest that the GSTP1 gene SNP (rs1695) can be considered a risk factor associated with gastric carcinogenesis.

Atividade de glicose-6-fosfato desidrogenase (G6PD) em membros de povos de terreiros de umbanda na cidade de Teresina, Piauí / Activity of glucose-6-phosphate dehydrogenase (G6PD) in members of umbanda temple in Teresina city, Piauí (Brazil)

Nos eritrócitos deficientes de G6PD, a diminuição da redução do NADP em NADPH leva a um baixo potencial redutor que interfere na capacidade metabólica oxidativa do organismo, ficando vulneráveis a hemólise, podendo levar a crises hemolíticas de intensidade variável. Devido a considerável prevalência da deficiência de G6PD na população brasileira, os maiores índices ocorrem em populações com ancestralidade africana. A presente pesquisa teve como objetivo estudar a atividade da G6PD em povos de terreiro de umbanda na cidade de Teresina. A pesquisa foi do tipo descritiva, exploratória e quantitativa. A amostra foi representada por indivíduos frequentadores de terreiro, no período entre setembro a dezembro de 2011, envolvendo 62 pessoas. A atividade da G6PD foi determinada utilizando-se o kit de G6PD D+ NeoLISA – INTERCIENTÍFICA, método enzimático colorimétrico para determinação quantitativa da atividade da G6PD. O estudo envolveu 62 indivíduos de ambos os sexos, com idades que variam dos 10 anos aos 80 anos, com uma média de 38 anos. Evidenciou-se a presença de 6,5% da população com a atividade da glicose-6-fosfato desidrogenase abaixo dos valores normais. Em relação ao sexo, o estudo encontrou uma prevalência de 4,8% nas mulheres e 10% nos homens. A soma da porcentagem de negros e pardos foi de 95%. A falta de conhecimento entre os participantes sobre a deficiência de G6PD foi de 100%. Os dados refletem que os terreiros são frequentados principalmente afrodescendentes, demonstrando forte relação com a sua ancestralidade e principalmente por sua preservação.

In G6PD-deficient erythrocytes, the decreased rate of reduction of NADP to NADPH leads to a low reducing potential that interferes with the oxidative metabolic capacity of the cells. These RBCs are susceptible to hemolysis, which can lead to hemolytic crises of varying intensity. There is a considerable prevalence of G6PD deficiency in the population, the highest rates occuring in populations of African descent. The aim of the present study was to investigate the activity of G6PD in people frequenting two Umbanda yards in the city of Teresina. The research was descriptive, exploratory and quantitative. The sample consisted of individuals who visited the yard (house temple) in the period between September and December 2011, totaling 62 people. Their G6PD activity was assayed with the Intercientífica Neolisa G6PDH kit, an enzymatic colorimetric method for this purpose. The study population included both sexes, with ages ranging from 10 to 80 years (mean 38 years). It was found that in 6.5% of the population, all of whom were described as black, the activity of glucose-6-phosphate dehydrogenase was below normal. Regarding gender, there was a prevalence of 4.8% of the women with deficient erythrocytes and 10% of the men. The sum of the people described as black and brown formed 95% of the group. The lack of knowledge among participants about G6PD deficiency was 100%. The data reflect that the Umbanda yards are frequented mainly by people of African descent, demonstrating a strong relationship with their ancestry, and mainly for the preservation of their beliefs and culture.

Da mãe África aos filhos Brasil: expressão da herança genética para a anemia falciforme em estudantes docurso de farmácia da Universidade Federal do Piauí / The mother africa children Brazil: expression of genetic inheritance for sickle cell anemia

Doenca hereditaria de maior prevalencia no mundo e no Brasil, a anemia falciforme ja e considerada um problema de saude publica. Caracterizada pela homozigose do gene da hemoglobina S, acarreta uma gama de sinais e sintomas que exige atencao integral ao paciente. O traco falciforme e caracterizado pela heterozigose do gene da hemoglobina S, ou seja, o sujeito nao manifesta a doenca, apenas carrega a heranca genetica. Na presente pesquisa objetivou-se verificar a presenca do traco falciforme em estudantes do curso de graduacao em Farmacia do Centro de Ciencias da Saude da Universidade Federal do Piaui, utilizando-se a metodologiada eletroforese de hemoglobinas, realizadas a partir de amostras sanguineas previamente coletadas, seguindo-se de questionariosociodemografico, realizadas no mes de setembro de 2007. Como resultado detectou-se a prevalencia de 1,5% do traco falciforme, o que esta de acordo com as literaturas consultadas que indicam a prevalencia de 1 a 4% do traco falciforme nas regioes brasileiras.

Hereditary illness of bigger prevalence in the world and Brazil, the sickle cell already is considered a problem of publichealth. Characterized for homozigose of the gene of the sickle hemoglobin, it causes a gamma of signals and symptoms that demands integral attention to the patient. The sickle trace is characterized by heterozigose of the gene of the sickle hemoglobin, or either, the not manifest citizen the illness, only loads the genetic inheritance. The present research was based on the study of the presence of the sickle trace in students of the course of graduation in Pharmacy of the Center of Sciences of the Health of the Federal University ofthe Piauí, having used itself it methodology of hemoglobins eletroforesis, carried through from sanguineous samples previously collected, following themselves of interview half-structuralized, carried through in the month of September of 2007. As result detected it prevalence of 1,5% of the sickle trace, the one that this in accordance with consulted literatures that indicate the prevalence of 1 4% of the sickle trace in the Brazilian regions.

Composiçäo centesimal de uma multimistura comercializada na cidade de Joäo Pessoa, Paraíba / Centesimal composition of a multimisture commercialized in Joäo Pessoa city, Brazil

Foi analizada a composiçäo centesimal de uma multimistura no intuito de determinar a quantidade de materiais contidos. Com a posse dos dados obtidos, constatou-se que a mistura possui alto teor de proteína, lipídio e ferro, sendo porém pobre em fósforo e cálcio