Tucumã (Astrocaryum aculeatum) pulp presents a large number of secondary metabolites that can mediate the synthesis of metallic nanoparticles through a greener and more sustainable synthetic route than traditional ones. This study investigated the production of silver nanoparticles (AgNPs) mediated by aqueous extracts of tucumã pulp assessing different parameters, such as temperature, concentration of extract, and pH values of the reaction media. The alkaline reaction media produced the most intense and well-defined bands around 400 nm in the electronic spectra, indicating the formation of AgNPs in the three concentrations of tucumã pulp evaluated. The increase in the temperature of the reaction media also enhanced the surface plasmon resonance band of AgNPs but it increased the polydispersivity of produced nanoparticles according to the dynamic light scattering (DLS) and transmission electron microscopy (TEM) data. Zeta potential results indicated moderate stability of the AgNPs (close to -30 mV). Antimicrobial assessment of the colloidal metal particles indicated microbicide activity against the Gram-negative Escherichia coli bacterium. Astrocaryum aculeatum ones (AgNPs parameters extract welldefined well defined 40 spectra evaluated DLS (DLS TEM (TEM data close 30 -3 mV. mV . mV) Gramnegative Gram negative bacterium 4 3 -

Resumo: A reconstituição do itinerário terapêutico é uma tecnologia utilizada na prática da pesquisa qualitativa. Este estudo buscou analisar a vulnerabilidade social de pessoas adultas com doença falciforme (DF), por meio da reconstrução de itinerários terapêuticos. Trata-se de uma enfermidade hereditária, crônica, de alta prevalência no Brasil, que pode causar uma série de complicações ao longo da vida do indivíduo acometido. Na pesquisa foram entrevistados sete adultos (cinco mulheres e dois homens), com doença falciforme. Os participantes, selecionados de forma intencional, apresentaram em comum um histórico clínico e laboratorial de DF do tipo grave (SS). O material foi submetido à análise de conteúdo, na modalidade temática, utilizando as categorias indicadas previamente: (a) Renda, trabalho e escolaridade; (b) Interações familiar, social e amorosa; (c) Associação de pacientes e Internet. Os resultados da pesquisa demonstraram que a reconstituição de itinerários terapêuticos possibilita a compreensão dos variados modos da vulnerabilidade social na vida dessas pessoas, no estado de Alagoas, apresentando as diferenças e as similaridades nas formas de seu enfrentamento. Observou-se a vulnerabilidade social associada à precária comunicação sobre a doença, no ato da consulta médica, na escola e no trabalho. A inserção desses indivíduos em grupos de convivência, a exemplo das mídias sociais, trouxe benefícios como fonte de conhecimento, bem como canal de comunicação com outras pessoas com diagnóstico semelhante. Portanto, a reconstrução de itinerários terapêuticos mostrou-se uma importante ferramenta para: conhecer e avaliar esta dimensão analítica da vulnerabilidade e sua relação com o autocuidado em saúde; identificar a necessidade de ações mais efetivas visando oportunidades educacional, econômica, social e cultural; e favorecer a afirmação da experiência trazida pelas pessoas com doença falciforme.

Abstract: The reconstruction of the therapeutic itinerary is a technology applied in the practice of qualitative research. This study intended to analyze the social vulnerability of adults with sickle cell disease, through the reconstruction of therapeutic itineraries. It is a hereditary, chronic disease, highly prevalent in Brazil, which can cause a series of complications throughout the life of the affected individual. In the survey, seven adults (five women and two men) with sickle cell disease were interviewed. The participants, selected intentionally, had in common a clinical and laboratory history of severe sickle cell disease (SS). The collected data were submitted to content analysis, in the thematic modality, applying the categories previously indicated: (a) Income, work and education;(b)Family, social and loving interactions; (c) Patient’s support groups. The results of the study show that the reconstruction of therapeutic itineraries make it possible to understand the various types of social vulnerability in the lives of these people, in the state of Alagoas, showing the differences and similarities in the ways of coping. The link between social vulnerability and receiving little information about the disease when having a medical appointment either/ both in school and work was also observed/ considered in this study. The inclusion of these individuals in social groups - social media, particularly - brought benefits such as source of knowledge, as well as a channel of communication with other people with a similar diagnosis. Therefore, therapeutic itinerary is an important tool for being aware and evaluate this analytical dimension of vulnerability and its linking with self-care regarding to health; identify the need for more effective actions aimed at educational, economic, social and cultural opportunities, and favor the affirmation of the experience brought by people with sickle cell disease.

This work describes the development of an automatic titrometric method in flow-batch with potentiometric detection using alternative and easily accessible materials. Arduino board and its modules, solenoid valves to control the flow rate, peristaltic pump to propel and suction fluids and tubes of inert material to connect the different parts of the Flow-Batch Analyser (FBA) were used. The use of solenoid valves controlled by microcontrollers proved to be efficient for controlling the flow in FBA systems, the correlations of their flow rates as a function of time showed good linearity with correlation coefficients (r) 0.9994 and 0.9997 for the valve 1 and valve 2, respectively, allowing correct addition of pre-established volumes. Accuracy was verified by comparing the results of the proposed method with the classic potentiometric titration with statistically evaluated by Student’s t-test in NaOH with HCl and vinegar with NaOH titrations. Results confirmed the efficiency to use Arduino board and its modules and automatic titrometric method in flow-batch developed in this work allow the implementation of practical disciplines, such as potentiometric titration and flow analysis system in undergraduate courses, making these instruments more accessible, especially for the chemistry students.

Abstract Introduction: In Brasil, some public policy strategies aimed to help people with hemoglobinopathies were used and inserted in the community. However, the invisibility that still persists in relation to people with sickle cell disease (DF) does not allow laws to cover and accommodate such a need. Objective: This study aimed to understand the health care provided to adults with SCD, through the reconstruction of therapeutic itineraries. Methods: This was a qualitative study, based on the conceptual framework of integrality, vulnerability and the National Policy for Comprehensive Care for People with Sickle Cell Disease (PNAIPDF). The reconstruction of therapeutic itineraries was adopted through open interviews. Five women and two adult men participated in the research, with SS type FD. The material was submitted to content analysis, in the thematic modality. Results: The study brought elements to understand the practices of services and professionals in the care of people with SCD. It demonstrated the need for greater articulation between the different instances of care and the precision of greater investment in health professionals, both in knowledge and in management of the disease. Conclusions: The paths and strategies used by adults with DF, in the experience of seeking care, provided subsidies to infer that, in Alagoas, the guidelines established by the PNAIPDF were not yet fully met. The programmatic vulnerability shown in this study is closely related to institutional racism. It is necessary to develop strategies that guarantee comprehensive and facilitated access to health services by people with SCD, and the study of therapeutic itineraries can be an important tool in the qualification of this care.

Resumen Introducción: En Brasil, algunas estrategias de política pública dirigidas a personas con hemoglobinopatías se han establecido e insertado en la comunidad, sin embargo, la invisibilidad que aún persiste en relación con las personas con enfermedad de células falciformes (DF) no permite que las leyes cubran y satisfagan esta necesidad. Objetivo: Comprender la atención médica brindada a adultos con MSC, a través de la reconstrucción de itinerarios terapêuticos. Métodos: Estudio cualitativo, basado en el marco conceptual de integralidad, vulnerabilidad y la Política Nacional de Atención Integral para Personas con Enfermedad Drepanocítica (PNAIPDF). La reconstrucción de itinerarios terapéuticos se adoptó a través de entrevistas abiertas. Cinco mujeres y dos hombres adultos participaron en la investigación, con SS tipo FD. El material fue sometido a análisis de contenido, en la modalidad temática. Resultados: El estudio aportó elementos para comprender las prácticas de los servicios y profesionales en la atención de personas con SCD. Demostró la necesidad de una mayor articulación entre las diferentes instancias de atención, así como la precisión de una mayor inversión en profesionales de la salud, con respecto al conocimiento y el manejo de la enfermedad. Conclusiones: Las rutas y estrategias adoptadas por las personas adultas con DF, en la experiencia de buscar atención, proporcionaron subsidios para inferir que, en Alagoas, las pautas establecidas por el PNAIPDF aún no se cumplen por completo. La vulnerabilidad programática mostrada en este estudio está estrechamente relacionada con el racismo institucional. Es necesario desarrollar estrategias que garanticen el acceso integral y facilitado a los servicios de salud por parte de las personas con SCD, y el estudio de itinerarios terapéuticos puede ser una herramienta importante en la calificación de esta atención.

Resumo Introdução: No Brasil, algumas estratégias de políticas públicas voltadas às pessoas com hemoglobinopatias foram estabelecidas e inseridas à comunidade, entretanto, a invisibilidade que ainda persiste em relação às pessoas com Doença Falciforme (DF) não permite que as leis abarquem e acolham tal necessidade. Objetivo: Compreender a atenção à saúde dispensada aos adultos com DF, por meio da reconstrução de itinerários terapêuticos. Métodos: Tratou-se de estudo qualitativo, baseado no quadro conceitual da integralidade, vulnerabilidade e Política Nacional de Atenção Integral às Pessoas com Doença Falciforme (PNAIPDF). Foi adotada a reconstrução de itinerários terapêuticos mediante entrevistas abertas. Participaram da pesquisa cinco mulheres e dois homens adultos, com DF do tipo SS. O material foi submetido à análise de conteúdo, na modalidade temática. Resultados: O estudo trouxe elementos para entender as práticas dos serviços e dos profissionais no cuidado às pessoas com DF. Demonstrou a necessidade de maior articulação entre as diversas instâncias do cuidado, bem como a precisão de maior investimento nos profissionais de saúde, no que diz respeito ao conhecimento e manejo da doença. Conclusões: Os caminhos e as estratégias adotados pelas pessoas adultas com DF, na experiência de busca por cuidados, forneceram subsídios para inferir que, em Alagoas, as diretrizes estabelecidas pela PNAIPDF ainda não são plenamente atendidas. A vulnerabilidade programática exibida nesse estudo guarda estreita relação com o racismo institucional. É necessário o desenvolvimento de estratégias que garantam o acesso integral e facilitado aos serviços de saúde pelas pessoas com DF e, o estudo sobre itinerários terapêuticos pode ser uma importante ferramenta na qualificação desse cuidado.

ABSTRACT The present study evaluated the genetic variability of the broodstocks of tambaqui hatcheries in the Brazilian state of Pará. Samples were obtained from the caudal fin of 110 broodstocks from one hatchery in each of four municipalities (Santarém, Peixe-Boi, Breu-Branco, and Ulianópolis), representing all the individuals of each hatchery stock. The samples were genotyped using the multiplex system microsatellite markers. Data were used to calculate observed and expected heterozygosity, number of alleles per locus, and allelic richness. The effective population size and inbreeding coefficient were also calculated. The genetic differentiation between populations was evaluated by using FST, and population structuring by the most likely number of genetically homogenous populations and Unweighted Pair Group Method (UPGMA); the arithmetic means were based on Nei's. The indices indicated a loss of genetic variability in the broodstocks from Ulianópolis, Peixe-Boi, and Breu-Branco in comparison with wild tambaqui populations, although this was not apparent in the Santarém stock. A moderate level of genetic differentiation was found among the tambaqui broodstocks based on the FST estimates, which were reinforced by the structuring found in the Bayesian analysis and UPGMA. This reflects the domestication process, given that no such structuring is found in natural tambaqui populations. This moderate genetic differentiation associated with the loss of genetic variability found in the four tambaqui broodstocks from the state of Pará provides important insights for the development of future programs of genetic improvement, as well as the conservation of the genetic diversity of these stocks.

RESUMO: Este estudo verificou o perfil do produtor de leite do município de Joanópolis, SP, situado a 115 km de São Paulo, e como esse produtor lida com o controle do carrapato e outras doenças importantes na pecuária leiteira. Quarenta produtores de leite foram entrevistados. Verificou-se que grande parte deles se enquadra em agricultura familiar: pequenas propriedades com mão-de-obra familiar. Verificou-se que 72,5% possuem outra fonte de renda além do leite; 75% produzem menos que 100 litros de leite por dia, e a maioria não é tecnificada (ordenha manual: 72,5 %; não faz escrituração zootécnica: 55%; não aduba pastos: 80%; não utiliza inseminação artificial: 87,5%). O controle do carrapato é feito sem critérios técnicos; a aplicação do carrapaticida é feita no mesmo local da ordenha; 90% não usam equipamentos de proteção individual para aplicar o carrapaticida. O gado prevalente é o mestiço Girolando (87,5%), que, por ser mais resistente ao carrapato, deve contribuir para que 57,5% dos entrevistados estejam satisfeitos com o controle do carrapato. Verificou-se que poucos produtores (apenas 12,5%) possuem assistência técnica constante. Isso pode ser a explicação para o baixo uso de tecnologias e nas falhas observadas no diagnóstico das doenças e no controle do carrapato.

ABSTRACT: This study made a detailed description of the milk producer of the municipality of Joanópolis/SP, situated 115 km from the largest city of Brazil, São Paulo, and how they deal with tick control and other important diseases for dairy farming. Forty milk producers were interviewed. It was found that most of them fit into family farms: small farms with family labor; 72.5% have another source of income in addition to the milk; 75% produce less than 100 liters of milk per day; and most of them are not technified (72.5% do manual milking; 55% do not keep zootechnical records; 80% do not fertilize the pastures; 87.5 % do not use artificial insemination). Tick control is made without technical criteria. A hundred percent of the interviewed applied the acaricide in the same place of milking; 90% do not use protective equipment to apply the acaricide. The prevalent cattle breed is the crossbred Girolando (87.5%), a more tick resistant breed. This may contribute to 57.5% that are satisfied with tick control. It was found that few producers (only 12.5%) have constant technical assistance. This may be the explanation for the low use of technologies and the failures observed in the diagnosis of diseases and the use of tick control.

RESUMO: A capacidade de produção de toxinas pelo Staphylococcus aureus no leite e produtos derivados está relacionado com surtos de intoxicação alimentar. Objetivou-se nesta pesquisa, estudar a ocorrência de genes que codificam para enterotoxinas estafilocócicas (sea, seb, sed, seg, seh e sei) e toxinas α e β hemolítica (hla e hlb) em S. aureus isolados de 53 amostras de leite de tanques expansão comunitários no Estado de Alagoas, Brasil. Foram identificados 27 isolados (50,94%) como S. aureus pela amplificação do gene nuc. 13/27 isolados (48,1%) foram positivos para pelo menos um gene das enterotoxinas estudadas, sendo as frequências dos genes sea 33,3%, seh 18,5%, sei 11,1% e sed 7,4%; não entanto não foram identificados os genes seb e seg nestas bactérias. Para as toxinas hemolíticas, 51,9% dos isolados portavam ambos genes (hla e hlb), sendo a frequência para o gene hla de 81,5% e para o gene hlb de 51,9%. A frequência de genes das toxinas avaliadas é alta o que constitui um risco potencial para a saúde pública em especial, as enterotoxinas por serem termoestáveis e estarem asssociados com surtos de intoxicação alimentar.

ABSTRACT: The capacity of toxin production by Staphylococcus aureus in milk and dairy products is associated with food poisoning outbreaks. The objective of this research was to study the frequency of genes encoding staphylococcal enterotoxin (sea, seb, sed, seg, seh and sei) and α and β hemolytic toxins (hla and hlb) in S. aureus isolates from 53 milk samples from community tanks in the State of Alagoas, Brazil. Twenty-seven isolates (50.94%) were identified as S. aureus by nuc gene amplification; 13/27 isolates (48.1%) were positive for at least one gene of the studied enterotoxins and the frequency of genes sea was 33.3%, seh 18.5%, sei 11.1% and sed 7.4%; the seb and sec genes have not been identified in the bacteria. For the hemolytic toxins, 51.9% of isolates harbored both genes (hla and hlb), the frequency of hla gene was 81.5% and 51.9% for the hlb gene. The evaluated toxin-encoding gene frequency is high and constitutes a potential risk for public health, especially staphylococcal enterotoxin genes; because they are heat-stable enterotoxins and have been associated with food poisoning.

Abstract Colossoma macropomum is the second largest scaled fish of the Amazon. It is economically important for commercial fisheries and for aquaculture, but few studies have examined the diversity and genetic structure of natural populations of this species. The aim of this study was to investigate the levels of genetic variability and connectivity that exist between three natural populations of C. macropomum from the Amazon basin. In total, 247 samples were collected from the municipalities of Tefé, Manaus, and Santarém. The populations were genotyped using a panel of 12 multiplex microsatellite markers. The genetic diversity found in these populations was high and similar to other populations described in the literature. These populations showed a pattern of high gene flow associated with the lack of a genetic structure pattern, indicating that the number of migrants per generation and recent migration rates are high. The values of the FST, RST, and exact test of differentiation were not significant for pairwise comparisons between populations. The Bayesian population clustering analysis indicated a single population. Thus, the data provide evidence for high genetic diversity and high gene flow among C. macropomum populations in the investigated region of the Amazon basin. This information is important for programs aiming at the conservation of natural populations.

Abstract Gastric cancer is considered to be the fifth highest incident tumor worldwide and the third leading cause of cancer deaths. Developing regions report a higher number of sporadic cases, but there are only a few local studies related to hereditary cases of gastric cancer in Brazil to confirm this fact. CDH1 germline mutations have been described both in familial and sporadic cases, but there is only one recent molecular description of individuals from Brazil. In this study we performed Next Generation Sequencing (NGS) to assess CDH1 germline mutations in individuals who match the clinical criteria for Hereditary Diffuse Gastric Cancer (HDGC), or who exhibit very early diagnosis of gastric cancer. Among five probands we detected CDH1 germline mutations in two cases (40%). The mutation c.1023T > G was found in a HDGC family and the mutation c.1849G > A, which is nearly exclusive to African populations, was found in an early-onset case of gastric adenocarcinoma. The mutations described highlight the existence of gastric cancer cases caused by CDH1 germline mutations in northern Brazil, although such information is frequently ignored due to the existence of a large number of environmental factors locally. Our report represent the first CDH1 mutations in HDGC described from Brazil by an NGS platform.

A maior proporção de fumantes entre negros no Brasil tem sido atribuída a desigualdades socioeconômicas, mas fatores genéticos também poderiam contribuir para esse achado. Este estudo visou investigar associações entre status tabágico com ancestralidade definida geneticamente e características socioeconômicas em brasileiros. Amostras de sangue foram colhidas de 448 voluntários (66,7% homens; idade: 37,1±11,4 anos) classificados como fumantes atuais (FA: 60,9%), ex-fumantes (EF:8,9%) e não fumantes (NF:30,1%).Misturas éticas individuais foram determinadas empregando-se um painel informativo de ancestralidade composto por 48 polimorfismos de deleções e inserções. FA mostraram menor proporção de ancestralidade europeia do que NF (0,837±0,243 X 0,883±0,194; p≤0,05) e EF (0,837±0,243 X 0,864±0,230; p≤0,05), e maior proporção de ancestralidade africana sub-saárica do que EF (0,128±0,222 X 0,07±0,174, p≤0,05) e NF (0,128±0,222 X 0,085±0,178, p≤0,05). NF informaram maior número de anos de escola do que FA (11,2±3,7 X 8,9±3,8; p≤0,001). FA foram menos comuns na Classe econômica A (30%) e mais comuns na Classe B (56,8%). Em análise multivariada, apenas menor número de anos escolares e menor classe econômica estiveram associados com chances maiores para FA. O uso de marcadores de genética molecular para caracterizar o background étnico confirmou que diferenças socioeconômicas são os principais determinantes de maiores taxas de tabagismo entre negros no Brasil.

The higher proportion of smokers among Black people in Brazil has been attributed to socioeconomic disparities, but genetic factors could also contribute for this finding. This study aimed at investigating associations between smoking status with genetically defined ethnic ancestry and socioeconomic features in Brazilians. Blood samples were collected from 448 volunteers (66.7% male; age: 37.1±11.4 years) classified as current smokers (CS: 60.9%), former smokers (FS: 8.9%) and never smokers (NS: 30.1%). Individual interethnic admixtures were determined using a 48 insertion-deletion polymorphisms ancestry-informative-marker panel. CS showed a lower amount of European ancestry than NS (0.837±0.243 X 0.883±0.194, p≤0.05) and FS (0.837±0.243 X 0.864±0.230, p≤0.05), and a higher proportion of African Sub-Saharan ancestry than FS (0.128±0.222 X 0.07±0.174, p≤0.05) and NS (0.128±0.222 X 0.085±0.178, p≤0.05). NS reported a higher number of years in school than CS (11.2±3.7 X 8.9±3.8, p≤0.001). CS were less common in economic Class A (30%) and more common in Class B (56.8%). In multivariate analysis, only lower number of school years and lower economic class were associated with higher chances for CS. The use of genetic molecular markers for characterizing ethnic background confirmed that socioeconomic disparities are the main determinants of higher smoking rates among Blacks in Brazil.

Um eletrodo compósito sólido à base de grafite e resina poliuretana modificado com um complexo de base de Schiff do tipo tetradentada simétrica, N, N'-bis(salicilideno)etilenodiamino de cobre(II) ([Cu(II)Salen)]), foi avaliado como sensor bio-inspirado, usando dopamina (DA) como sonda eletroquímica. O comportamento voltamétrico do modificador [Cu(II)Salen] foi avaliado em eletrodo de pasta de carbono modificado e um mecanismo redox foi proposto. As potencialidades analíticas do eletrodo compósito à base de grafite e resina poliuretana (GPU) modificado com [Cu(II Salen] (MGPU) foram avaliadas usando DA. O eletrodo MGPU apresentou melhores resultados quando comparado ao GPU sem modificação, exibindo efeito eletrocatalítico, o que o caracteriza como sensor bio-inspirado. O eletrodo MGPU foi aplicado na determinação de DA em formulações farmacêuticas utilizando DPV e o resultado foi comparado àquele obtido com o método oficial (cromatografia líquida de alta eficiência, HPLC), descrito na farmacopeia americana, concordando em um nível de 95% de confiança de acordo com o teste t-student.

A solid composite electrode based on graphite and polyurethane resin modified with a copper(II) complex of the symmetrical tetradentate Schiff's base type, N, N'-ethylenebis(salicylideneiminato) copper(II) ([Cu(II)Salen]), was evaluated as a bio-inspired sensor using dopamine (DA) as a model analyte. The voltammetric behavior of the modifier [Cu(II)Salen] was investigated at a modified carbon paste electrode and a redox mechanism was proposed. The analytical potentialities of the composite electrode based on graphite and polyurethane resin (GPU) modified with [Cu(II)Salen] (MGPU) were evaluated using DA as probe. MGPU presents best results when compared with GPU without modification, with electrocatalytic effect, indicating that the electrode can be characterized as a bio-inspired sensor. The MGPU electrode was applied in the determination of DA in pharmaceutical formulation using DPV and the results were compared to those obtained with the official method (high performance liquid chromatography, HPLC) as described in US Pharmacopoeia, agreeing within 95% confidence level according to student's t-test.

This work proposes the use of a graphite-Araldite® 70% (graphite, m/m) composite electrode in didactic experiments, specifically in the quantitative determination of the neurotransmitter dopamine (DA) in a sample of pharmaceutical formulation. The goal is to demonstrate the possibility of using voltammetric techniques in quality control of medicines, besides covering some concepts such as the influence of pH on the redox process, the differential pulse voltammetry (DPV) technique, the optimization of experiments and comparison with an official method described in the United States Pharmacopoeia.

A deficiência auditiva afeta cerca de 1 em cada 1000 recém-nascidos. Mutações no gene da conexina 26 (GJB2) são as causas mais frequentes de surdez não sindrômica em diferentes populações e é sabido que a mutação delGJB6-D13S1830 em DFNB30 é causadora de surdez neurossensorial. Muitos estudos descrevem o envolvimento de mutações no gene GJB2 com a deficiência auditiva em diferentes populações. Entretanto, existe pouca informação sobre a surdez genética no Brasil, especialmente na região Amazônica. OBJETIVO: Determinar a prevalência de mutações no gene GJB2 e da mutação delGJB6-D13S1830 em 77 casos esporádicos de surdez não sindrômicas. MÉTODO: A região codificante do gene GJB2 foi sequenciada e a PCR foi realizada para detectar a mutação delGJB6-D13S1830. RESULTADOS: O alelo 35delG foi encontrado em 9% dos pacientes (7/77). As mutações M34T e V95M foram detectadas em dois distintos pacientes heterozigotos. A mutação não patogênica V27I foi detectada em 28,6% (22/77). Não foi detectada a mutação delGJB6-D13S1830 em nenhum paciente estudado. CONCLUSÃO: Alelos mutantes no gene GJB2 foram observados em 40% (31/77) da amostra. Variantes patogênicas foram detectadas em apenas 12% (9/77). Mais estudos são necessários para elucidar causas genéticas de deficiência auditiva em populações miscigenadas.

Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in different populations, while delGJB6-D13S1830 mutation located in the DFNB30 locus is known to cause sensorineural hearing loss. Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region. OBJECTIVE: To determine the prevalence of GJB2 mutations and delGJB6-D13S1830 in 77 sporadic non-syndromic deaf patients. METHOD: The coding region of the GJB2 gene was sequenced and polymerase chain reaction was performed to detect the delGJB6-D13S1830 mutation. RESULTS: Mutant allele 35delG was found in 9% of the patients (7/77). Mutations M34T and V95M were detected in two distinct heterozygous patients. Non-pathogenic mutation V27I was detected in 28.6% of the patients (22/77). None of the deaf patients carried the delGJB6-D13S1830 mutation. CONCLUSION: Mutant alleles on gene GJB2 were observed in 40% (31/77) of the subjects in the sample. Pathogenic variants were detected in only 12% (9/77) of the individuals. More studies are required to elucidate the genetic causes of hearing loss in miscegenated populations.

Soroprevalence for Hepatitis C virus is reported as 2.12% in Northern Brazil, with about 50% of the patients exhibiting a sustained virological response (SVR). Aiming to associate polymorphisms in Killer Cell Immunoglobulin-like Receptors (KIR) with chronic hepatitis C and therapy responses we investigated 125 chronic patients and 345 controls. Additionally, 48 ancestry markers were genotyped to control for population stratification. The frequency of the KIR2DL2 and KIR2DL2+HLA-C Asp80 gene and ligand was higher in chronic infected patients than in controls (p < 0.0009, OR = 3.4; p = 0.001, OR = 3.45). In fact, KIR2DL3 is a weaker inhibitor of NK activity than KIR2DL2, which could explain the association of KIR2DL2 with chronic infection. Moreover, KIR2DS2 and KIR2DS2+HLA-C Asp80 (p < 0.0001, OR = 2.51; p = 0.0084, OR = 2.62) and KIR2DS3 (p < 0.0001; OR = 2.57) were associated with chronic infection, independently from KIR2DL2. No differences in ancestry composition were observed between control and patients, even with respect to therapy response groups. The allelic profile KIR2DL2/KIR2DS2/KIR2DS3 was associated with the chronic hepatitis C (p < 0.0001; OR = 3). Furthermore, the patients also showed a higher mean number of activating genes and a lower frequency of the homozygous AA profile, which is likely secondary to the association with non-AA and/or activating genes. In addition, the KIR2DS5 allele was associated with SVR (p = 0.0261; OR = 0.184).The ancestry analysis of samples ruled out any effects of population substructuring and did not evidence interethnic differences in therapy response, as suggested in previous studies.

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2%), E1b1b (11.6%), J2 (10.1%) and Q (7.2%). Most haplogroups of this population belonged to European male lineages (89.2%), followed by Amerindian (7.2%) and African (3.6%) lineages.