Frequency of the DI*A, DI*B and Band 3 Memphis polymorphism among distinct groups in Brazil

ABSTRACT Introduction: The Band 3 is a red blood cell protein that carries the Dia and Dib antigens from the Diego blood system. The SLC4A1 gene encodes Band 3; Band 3 Memphis is a polymorphism of normal Band 3 and has two variants, but only the variant II carries the Dia antigen. Objectives: Describe the frequencies of the DI*A and DI*B alleles and the Band 3 Memphis among blood donors, sickle cell disease (SCD) patients and Amazonian Indians. Methods: A total of 427 blood samples were collected and separated into three groups: 206 unrelated blood donors, 90 patients with SCD and 131 Amazonian Indians. We performed DI*A/B, normal Band 3 and Band 3 Memphis genotyping, using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP). Results: The frequency of the DI*A/DI*A genotype was 0.5% in blood donors and it was not found in other groups. The frequency of the DI*A/DI*B was higher in Amazonian Indians (33.6%) and the frequency of the DI*B/DI*B was highest in blood donors (92.2%). All 105 individuals tested were positive for the presence of normal Band 3 and of these individuals, only 5/105 (4.8%) presented the Band 3 Memphis mutation. Conclusion: We observed a higher frequency of the DI*B allele in blood donors and a low frequency of the DI*A/DI*A genotype in all groups studied. The Band 3 Memphis was found in a higher frequency in the blood donor group. Our findings highlight the importance of analyzing different population groups to gain a better understanding of the genetic association of blood group antigens.

Cardiovascular Risk in Xavante Indigenous Population.

BACKGROUND: The prevalence of cardiovascular risk factors is little known in Brazilian indigenous populations. In the last two decades, important changes have occurred in the lifestyle and epidemiological profile of the Xavante people. OBJECTIVE: to assess the prevalence of cardiovascular risk factors in Xavante adults in São Marcos and Sangradouro/Volta Grande reserves, in the state of Mato Grosso, Brazil. METHODS: Cross-sectional study carried out with 925 Xavante people aged ≥ 20 years between 2008 and 2012. The following indicators were assessed: triglycerides (TG), total, LDL and HDL-cholesterol, Castelli index I and II, TG/HDL-cholesterol ratio, apo B / Apo A1 ratio, Framingham risk score, C-reactive protein, body mass index (BMI), waist circumference (WC), hypertriglyceridemic waist (HW), glycemia and blood pressure. Kolmogorov-Smirnov, Student's t test and Chi-square test (χ2) were used for statistical analysis, and significance level was set at 5%. RESULTS: High prevalence of elevated cardiovascular risk was observed in men and women according to HDL-cholesterol (66.2% and 86.2%, respectively), TG (53.2% and 51.5%), TG/HDL-cholesterol ratio (60.0% and 49.1%), C-reactive protein (44.1% and 48.1%), BMI (81.3% and 81.7%), WC (59.1% and 96.2%), HW (38.0% and 50,6%) and glycemia (46.8% and 70.2%). Individuals aged 40 to 59 years had the highest cardiovascular risk. CONCLUSIONS: The Xavante have a high cardiovascular risk according to several indicators evaluated. The present analysis of cardiovascular risk factors provides support for the development of preventive measures and early treatment, in attempt to minimize the impact of cardiovascular diseases on this population.

Cardiovascular Risk in Xavante Indigenous Population / Risco Cardiovascular na População Indígena Xavante

Abstract Background: The prevalence of cardiovascular risk factors is little known in Brazilian indigenous populations. In the last two decades, important changes have occurred in the lifestyle and epidemiological profile of the Xavante people. Objective: to assess the prevalence of cardiovascular risk factors in Xavante adults in São Marcos and Sangradouro/Volta Grande reserves, in the state of Mato Grosso, Brazil. Methods: Cross-sectional study carried out with 925 Xavante people aged ≥ 20 years between 2008 and 2012. The following indicators were assessed: triglycerides (TG), total, LDL and HDL-cholesterol, Castelli index I and II, TG/HDL-cholesterol ratio, apo B / Apo A1 ratio, Framingham risk score, C-reactive protein, body mass index (BMI), waist circumference (WC), hypertriglyceridemic waist (HW), glycemia and blood pressure. Kolmogorov-Smirnov, Student's t test and Chi-square test (χ2) were used for statistical analysis, and significance level was set at 5%. Results: High prevalence of elevated cardiovascular risk was observed in men and women according to HDL-cholesterol (66.2% and 86.2%, respectively), TG (53.2% and 51.5%), TG/HDL-cholesterol ratio (60.0% and 49.1%), C-reactive protein (44.1% and 48.1%), BMI (81.3% and 81.7%), WC (59.1% and 96.2%), HW (38.0% and 50,6%) and glycemia (46.8% and 70.2%). Individuals aged 40 to 59 years had the highest cardiovascular risk. Conclusions: The Xavante have a high cardiovascular risk according to several indicators evaluated. The present analysis of cardiovascular risk factors provides support for the development of preventive measures and early treatment, in attempt to minimize the impact of cardiovascular diseases on this population.

Resumo Fundamento: A prevalência de fatores de risco cardiovascular ainda é pouco estudada em populações indígenas brasileiras. Nas duas últimas décadas, observaram- se importantes mudanças no estilo de vida e no perfil epidemiológico dos Xavante. Objetivo: Avaliar a prevalência de fatores de risco cardiovascular na população adulta Xavante das Reservas Indígenas de São Marcos e Sangradouro/Volta Grande - MT. Métodos: Estudo transversal realizado com 925 indígenas Xavante com 20 ou mais anos de idade, no período de 2008 a 2012. Foram considerados os indicadores: níveis séricos de triglicérides (TG), colesterol (total, LDL e HDL), Índices de Castelli I (CT/HDL-c) e II (LDL-c/HDL-c), razão TG/HDL-C, relação Apo B/Apo A1, escore de Framingham, proteína C reativa (PCR), Índice de Massa Corporal (IMC), circunferência da cintura (CC), cintura hipertrigliceridêmica (CH), glicemia e pressão arterial. Foram utilizados os testes Kolmogorov-Smirnov, t de Student e Qui quadrado (χ2), sendo considerado um nível de significância de 5%. Resultados: Verificaram-se altas prevalências de risco cardiovascular elevado, em homens e mulheres, respectivamente, segundo os indicadores HDL-colesterol (66,2% e 86,2%), TG (53,2% e 51,5%), razão TG/HDL-c (60,0% e 49,1%), PCR (44,1% e 48,1%), IMC (81,3% e 81,7%), CC (59,1% e 96,2%), CH (38,0% e 50,6%) e glicemia (46,8% e 70,2%). Os indivíduos de 40 a 59 anos foram os que apresentaram maior risco cardiovascular. Conclusões: Os Xavante apresentam elevado risco cardiovascular segundo vários indicadores avaliados. Este inquérito fornece subsídios para ações de prevenção e tratamento precoce, a fim de minimizar os potenciais danos causados por doenças cardiovasculares entre os Xavante.

Prevalence of metabolic syndrome in the Brazilian Xavante indigenous population.

BACKGROUND: The raising prevalence of weight excess and of non-communicable diseases in indigenous populations, as well as changes in food consumption and reduction in the frequency and intensity of physical activity, suggest that the prevalence of metabolic syndrome (MS) is also elevated. The objective of this study was to evaluate the prevalence of MS and the frequency of its components in the Xavante adult population living in the Indian reservations of São Marcos and Sangradouro/Volta Grande, in the state of Mato Grosso, Brazil. A cross-sectional study was carried out among 932 Xavante Indians aged 20 years or more, in the 2008-2012 period. The variables analysed were gender, age, weight, height, waist circumference, blood pressure, initial and 2-h capillary glycemia in a 75 g OGTT, levels of triglycerides and HDL-cholesterol. The diagnostic criteria for MS proposed by the IDF and AHA/NHLBI were used. RESULTS: The prevalence of MS was 66.1 % (95 % CI 63.0-69.2), being 76.2 % (95 % CI 72.4-80.0) in women and 55.6 % (95 % CI 51.0-60.2) in men. Women had higher prevalence of MS in all age groups. Elevated waist circumference and lower levels of HDL-cholesterol were the more frequent components in those with MS, and elevated blood pressure was the less frequent. CONCLUSIONS: The high prevalence of MS in the Xavante Indians is mainly due to the increased prevalence of weight excess that resulted from an intense change in their life-style, in a short period of time in a population with a genetic predisposition. These findings highlight the magnitude of this health problem and make an alert about the necessity to implement specific preventive interventions.

HNA-3 gene frequencies in Brazilians and a new polymerase chain reaction-restriction fragment length polymorphism method for HNA-3a/3b genotyping.

BACKGROUND: HNA-3 antigens are the result of a rs2288904 single-nucleotide polymorphism (SNP) in the CTL2, and the HNA-3a and HNA-3b variants are encoded by a guanine and adenine at Nucleotide Position 461. Anti-HNA-3 are involved in severe transfusion-related acute lung injury reactions and in neonatal alloimmune neutropenia. Since the distribution of the HNA-3 system was unknown in South Americans, in this study we determined the frequency of the HNA-3 alleles in Brazilians. STUDY DESIGN AND METHODS: DNA of 500 blood donors, 120 Xikrin Amerindians, 74 Japanese individuals, and 124 African Brazilians were genotyped for rs2288904 by a polymerase chain reaction (PCR)-restriction fragment length polymorphism assay. The PCR product was digested with enzyme Taq(α) 1, specific to nucleotide guanine (HNA-3a). RESULTS: The results showed that the frequencies of the HNA-3a/HNA-3b alleles were 0.81/0.19 in blood donors, 1.00/0.00 in Amerindians, 0.63/0.37 in Japanese, and 0.85/0.15 in African Brazilians. All 81 individuals genotyped as HNA-3a/a did not present the SNP c.457T by molecular sequencing. CONCLUSION: The frequencies of HNA-3 genotypes in Brazilian blood donors is similar to that described in Caucasians; however, all Amerindians were HNA-3a/a, African Brazilians showed a lower frequency of HNA-3b/b, and Japanese had a higher prevalence of HNA-3b/b, suggesting that they may be at risk for developing anti-HNA-3a alloantibodies.

Gene frequencies of the HNA-4a and -5a neutrophil antigens in Brazilian persons and a new polymerase chain reaction-restriction fragment length polymorphism method for HNA-5a genotyping.

BACKGROUND: The HNA-4a (Mart) and HNA-5a (Ond) antigens are polymorphic variants of alpha(M) (CD11b) and alpha(L) (CD11a) subunits of the beta(2)-integrin, and are associated with single nucleotide polymorphisms (SNP) leading to amino acid dimorphisms. HNA-4a has been linked to alloimmune neonatal neutropenia, but the HNA-5a clinical significance is unclear. STUDY DESIGN AND METHODS: Using a polymerase chain reaction (PCR) with sequence-specific primers, the frequency of HNA-4a among 121 Brazilian blood donors and 114 Amazon Indians was determined. A PCR-restriction fragment length polymorphism (RFLP) method for HNA-5a genotyping was developed, and the gene frequencies of this antigen were determined among 123 blood donors and 114 Indians. To validate the genotyping method, the amplified DNA from six previously obtained samples (two of each genotype) was sequenced. RESULTS: The HNA-4a (+/+), HNA-4a (+/-), and HNA-4a (-/-) genotype frequencies of blood donors (0.686, 0.273, 0.041) and Indians (1.000, 0.000, 0.000) were different (p < 0.01). The frequencies of HNA-5a (+/+), HNA-5a (+/-), and HNA-5a (-/-) genotypes among blood donors (0.512, 0.399, 0.089) and Indians (0.746, 0.219, 0.035) also differed (p < 0.01). Sequencing demonstrated concordance with PCR-RFLP genotyping in all six evaluated samples. CONCLUSION: Comparing to another populations, Brazilians present a higher frequency of HNA-4a-negative allele, suggesting that Brazilians would be more susceptible to HNA-4a alloimmunization. Moreover, the distribution of the HNA-4 alleles observed in Amazon Indians is quite similar to that reported among Koreans. Besides that, a new effective and efficient HNA-5a genotyping technique is now available for population studies.

Latent Autoimmune Diabetes of the Adult (LADA) in a Brazilian Indian

CONTEXT: Latent autoimmune diabetes of the adult (LADA) as originally described represents perhaps as many as 10 -- 20 percent of adult-onset patients with diabetes. DESIGN: case report. CASE REPORT: A 38-year-old Brazilian Xavante-Jê Indian with Latent Autoimmune Diabetes of the Adult (LADA) is described, coming from the Sangradouro community in Poxoréu, Mato Grosso. The onset of diabetes after reaching 25 years of age, the evolution to insulin deficiency after a period of insulin-independence and the presence of auto-antibodies to glutamic acid decarboxylase (GAD) characteristic of LADA were present. This patient may represent the first case of LADA in a Brazilian with full Indian heritage. Further studies are necessary to verify the prevalence of this new type of diabetes in this population that does not have Caucasoid admixture and has a particular environmental background

Paracoccidioidomicose em índios brasileiros da tribo Suruí: estudo clínico-laboratorial de 2 casos / Paracoccidioidomycosis in Amerindiam populations of the Brazilian Suruí tribe: a clinical and laboratory study of two cases

Paracoccidioidomicose é considerada a micose sistêmica endêmica mais prevalente na América Latina. Apesar da maior parte da casuística de paracoccidioidomicose ocorrer entre trabalhadores rurais, há poucos casos documentados de ocorrência dessa micose entre índios brasileiros. Säo apresentados 2 casos de paracoccidioidomicose em índios Suruí, família linguística Tupi-Mondé, procedentes de Cacoal, Rondônia. Ambos apresentaram sorologia positiva a imunodifusäo apenas com antígenos da fase miceliana do P. brasiliensis. Os autores apresentam revisäo de literatura sobre a ocorrência dessa micose entre índios brasileiros e discutem a necessidade de futuras investigaçöes buscando caracterizar as diferenças regionais de cepas de P. brasiliensis e seu impacto no diagnóstico sorológico dessa micose

India Xavante com bócio nodular tóxico associado a carcinoma folicular / Xavant indian woman with toxic nodular goiter associated with follicular carcinoma

Apresentamos um bócio nodular de longa evoluçäo, de índia Xavante, proveniente do planalto central brasileiro que desenvolveu quadro clínico de hipertiroidismo. No exame anatomopatológico do bócio nodular tóxico, encontrou-se carcinoma folicular da tireóide.

Cetoacidose diabética em índio Krenak / Ketoacidosis diabetic in Krenak indian

Os autores apresentam um caso de cetocidose espontânea num índio Krenak com 32 anos de idade. O pacientes negava alcoolismo e sua mäe apresentava diabetes tipo II há três anos. Os anticorpos antilhota pancreática e antiinsulina foram negativos no paciente. O peptídio C basal foi encontrado normal durante o seguimento clínico. O paciente recebeu um tratamento curto com insulina e mostrou bom controle metabólico (hemoglobina glicolisada normal) no tratamento com hipoglicemiante oral. Os autores reviram e discutiram a influência ambiental e os costumes dos índios e a raridade da cetoacidose nesses indivíduos

Dosagem da tiroxina livre entre índios da floresta Amazônica oriental / Free thyroxine dosage of the Western Amazon

Os índios Xikrin do Cateté, Paracana do Paranati, Paracana do Marudjewara e Paracana do Bom Jardim, da floresta Amazônica Oriental, com dieta da caça, pesca, coleta e agricultura de subsistência, mostraram valores médios da tiroxina livre dentro dos valores da normalidade. Os valores médios da tiroxina livre dos Xikrin do Cateté, Paracana do Marudjewara e Paracana do Bom Jardim foram significantemente menores que o valor médio da tiroxina livre dos caucasóides urbanizados de Säo Paulo. O valor médio da tiroxina livre dos civilizados, significantemente maior que os valores médios da tiroxina livre dos Xikrin do Cateté, Paracana dos Marudjewara e Paracana do Bom Jardim, pode ser explicado pelo acesso ao sal iodetado e alimentos industrializados por parte dos que vivem em Sao Paulo. Os Paracanas do Paranati, o único dos grupos estudados com estrada, mostraram valor médio da tiroxina livre significantemente maior que o valor médio dos Paracana do Bom Jardim que é o grupo mais isolado e por último contatado.

Anticorpos antitiroidianos entre índios do sudeste do Pará

Observamos anticorpos antimicrossomais entre 14 índios, oito do sexo feminino e seis do masculino, correspondendo a 3,46% da populaçäo de 404 índios da Amazônia Oriental do Brasil. Observamos anticorpos antitiroglobulina entre dois dos 14 índios que apresentaram anticorpos antimicrossomais, ambos pretencendo ao sexo feminino, correspondendo a 0,49% da populaçäo pesquisada. Näo notamos alteraçöes dos hormônios tiroxixna e tirotrópico hipofisário dos índios com anticorpos positivos. A análise estatística näo mostrou diferenças significantes entre porcentagens de positividade dos anticorpos antitiróde entre sexos nos diversos grupos etários, e entre a totalidade de índios do sexo feminino, independente de faixas etárias. As porcentagens de positividade dos anticorpos antitiróides em conjunto quanto aos sexos e grupos etários näo puderam ser analisadas

As proteínas glicosiladas dos índios paracanä do Paranati / Glycosylated protein of paracanä indians of Paranati

Os índios paracaña do Paranati apresentaram valor da média das proteínas glicosiladas significativamente menor que o valor da média dos xikrin do Cateté, xikrin do Bacajá, paracaña do Bom Jardim, paracategê e caucasóides urbanizados da cidade de Säo Paulo. O menor valor da média das proteínas glicosiladas dos paracaña do Paranati deve-se a manutençäo de sua dieta tradicional e a maior atividade física posterior ao contato, condiçöes näo verificadas nos outros grupos indígenas que entraram em contato com a civilizaçäo ocidental. Näo diferiram significantemente dos paracaña do Marudjewara, pois estes retornaram a dieta tradicional e a atividade física

As proteínas glicosiladas dos índios xikrin e paracanä / Glicosylated proteins in xikrin and paracana indians

Os índios xikrin do Cateté, xikrin do Bacajá e paracanä do Bom Jardim apresentaram valores médios das proteínas glicosiladas, significativamente maiores que o valor médio dos caucasóides urbanizados da cidade de Säo Paulo. Valores de proteínas glicosiladas alterados e suspeitos de pertencerem a diabéticos foram observados entre xikrin do Cateté, xikrin do Bacajá e paracanä do Bom Jardim

As proteínas glicosiladas dos índios paracategê / Glycosylated proteins of paracategê Indians

A média das proteínas glicosiladas dos índios paracategê näo mostrou diferença significante com as médias dos xikrin do Cateté, paracaña do Bom Jardim e caucasóides urbanizados da cidade de Säo Paulo. A média das proteínas glicosiladas dos paracategê mostrou-se significantemente menor que a média dos xikrin do Bacajá e significantemente maior que a média dos paracaña do Marudjewara. Valores de proteínas glicosiladas alterados e suspeitos de pertencerem a diabéticos foram observados entre os paracategê

Cistos do ducto do tiroglosso com carcinoma papilífero numa índia Txukahamäe / Thyroglossal duct cyst with papillary carcinoma in a Txukahamae indian

Relatamos a ocorrência de cistos do ducto do tiroglosso com carcinoma papilífero numa india Txukahamäe do Parque Nacional do Xingu. A punçäo aspirativa com agulha fina do cisto do ducto do tiroglosso possibilitou o diagnóstico pré-cirúrgico do carcinoma. O exame anatomopatológico do conjunto extraído confirmou cistos do ducto do tiroglosso e carcinoma papilífero.

Metatarsalgia em pseudopseudo-hipoparatiroidismo: apresentaçäo de um caso / Metatarsalgia in pseudopseudo-hypoparathyroidism: report of a case

Os autores apresentam 1 caso de metatarsalgia por pseudopseudo-hipoparatiroidismo (oesteodistrofia hereditária de Albright) e analisam o tratamento ortopédico das dismorfias esqueléticas