The description of the first human retrovirus, Human T-lymphotropic virus 1 (HTLV-1), was soon associated with an aggressive lymphoma and a chronic inflammatory neurodegenerative disease. Later, other associated clinical manifestations were described, affecting diverse target organs in the human body and showing the enormous burden carried by the virus and the associated diseases. The epidemiology of HTLV-1 and HTLV-2 showed that they were largely distributed around the world, although it is possible to locate geographical areas with pockets of low and very high prevalence and incidence. Aboriginal Australians and indigenous peoples of Brazil are examples of the large spread of HTLV-1 and HTLV-2, respectively. The epidemiological link of both situations is their occurrence among isolated, epidemiologically closed or semi-closed communities. The origin of the viruses in South America shows two different branches with distinct timing of entry. HTLV-1 made its probable entrance in a more recent route through the east coast of Brazil at the beginning of the slave trade from the African continent, starting in the 16th century and lasting for more than 350 years. HTLV-2 followed the ancient route of human migration from the Asian continent, crossing the Behring Strait and then splitting in South America as the population became separated by the Andes Mountains. By that time, HTLV-2c probably arose and became isolated among the indigenous populations in the Brazilian Amazon. The study of epidemiologically closed communities of indigenous populations in Brazil allowed tracing the most likely route of entry, the generation of a new molecular subtype (HTLV-2c), the elucidation of the vertical transmission of HTLV-2, the intrafamilial aggregation of cases and the escape and spread of the virus to other areas in Brazil and abroad. Despite the burden and impact of both viruses, they are maintained as silent infections among human populations because (i) health authorities in most South American countries in which national surveillance is poor have little interest in the disease, (ii) the information is commonly lost as indigenous groups do not have specific policies for HTLV and other sexually transmitted infections, and (iii) health access is not feasible or properly delivered.

Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*B ES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping revealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and frequencies of the G6PD*A- and G6PD*A alleles were 0.061 and 0.104, respectively. Duffy blood group genotyping showed that 24.3% of people were Duffy-negative and 41.3% were heterozygous for FY*B ES. The frequency of allele FY*B ES was 41.0%. The results emphasize the need to monitor G6PD deficiency for the use of primaquine in the routine care of the Afro-descendant communities of the Trombetas, Erepecuru and Cumná rivers, evaluating the risks of hemolytic crisis in case of recurrence of malaria in the region. In addition, the possible greater protection against malaria conferred by these erythrocyte polymorphisms deserves to be better investigated and explored among these Afro-descendants.

Objetivo: Realizar uma investigação epidemiológica, no período de 2009 a 2018, sobre fratura de fêmur em idosos e suas implicações no serviço de saúde no município de Belém, Pará. Metodologia: Pesquisa quantitativa, de caráter retrospectivo e descritivo, de uma série histórica no período de 2009 a 2018, na cidade de Belém, Pará, apoiada em artigos científicos a fim de expor um panorama das internações de idosos por fratura de fêmur na última década e o sistema de saúde pública. Os dados foram extraídos do Sistema Único de Saúde e processados no programa Bioestat® 5.3. Resultados: As internações de pacientes com fratura de fêmur apresentam uma tendência maior nas faixas etárias mais avançadas, bem como predomínio do número de pacientes do sexo feminino, sobre o sexo masculino, nos pacientes idosos. Além disso, representam um alto custo para os serviços de saúde pública. Conclusão: Os dados obtidos por esta pesquisa são condizentes com o padrão esperado e referido pela literatura.

Objectives: Tuberculosis (TB) is an infectious and contagious disease that has been very influential in human history and presents high rates of mortality. The objective of this study was to investigate the association of VDR, IL10, and SLC11A1 gene polymorphisms with susceptibility to the presence of Mycobacterium tuberculosis infection. Methods: A total of 135 patients with confirmed TB and 141 healthy individuals were included in the analysis. Blood samples were collected for DNA extraction. Genotyping of the polymorphisms in the VDR and IL10 genes was performed by real-time PCR, and genotyping of the polymorphisms in the SLC11A1 gene by conventional PCR, followed by visualization in polyacrylamide gel. The genomic ancestry was obtained using an autosomal panel with 48 insertion/deletion ancestry-informative markers. Results: Polymorphisms TaqI (TT, p = 0.004), FokI (CC and CC + CT, p = 0.012 and p = 0.003, respectively), and BsmI (GG, p = 0.008) in the VDR gene, as well as A-592C (GC + AG, p = 0.001) in the IL10 gene, were significantly associated with susceptibility to TB In addition, high production of VDR combined with low production of IL10 showed protection for the TB group (p = 0.035). Conclusions: The VDR polymorphisms may confer an increased risk and the IL10 haplotype may be a protection factor for the presence of M. tuberculosis infection in the Brazilian population.

Autism spectrum disorder is a neurodevelopmental disorder, affecting one in 160 children worldwide. The causes of autism are still poorly understood, but research shows the relevance of genetic factors in its pathophysiology, including the CHD8, SCN2A, FOXP1 and SYNGAP1 genes. Information about the genetic influence on various diseases, including autism, in the Amerindian population from Amazon, is still scarce. We investigated 35 variants of the CHD8, SCN2A, FOXP1, and SYNGAP1 gene in Amazonian Amerindians in comparison with publicly available population frequencies from the 1000 Genomes Project database. Our study identified 16 variants in the Amerindian population of the Amazon with frequencies significantly different from the other populations. Among them, the SCN2A (rs17183814, rs75109281, and rs150453735), FOXP1 (rs56850311 and rs939845), and SYNGAP1 (rs9394145 and rs115441992) variants presented higher frequency than all other populations analyzed. In addition, nine variants were found with lower frequency among the Amerindians: CHD8 (rs35057134 and rs10467770), SCN2A (rs3769951, rs2304014, rs1838846, and rs7593568), FOXP1 (rs112773801 and rs56850311), and SYNGAP1 (rs453590). These data show the unique genetic profile of the indigenous population of the Brazilian Amazon. Knowledge of these variants can help to understand the pathophysiology and diagnosis of autism among Amerindians, Brazilians, and in admixed populations that have contributions from this ethnic group.

Objetivo: Analisar os graus e as proporções dos traumatismos cranioencefálicos tratados de maneira conservadora no Brasil durante a última década. Método: Foram coletados os dados referentes aos tratamentos conservadores de traumatismo cranioencefálico no Brasil, disponibilizados no Sistema de Informações Hospitalares do Sistema Único de Saúde (SIH/SUS), abarcando uma série temporal de 2010 até 2019. Resultados: Foram registrados 835.253 tratamentos conservadores relacionados ao traumatismo cranioencefálico de graus leve, moderado e grave. Este estudo constatou 68.061 óbitos em pacientes acometidos por TCE, o que equivale a 8,1% dos procedimentos conservadores realizados em cada grau de traumatismo cranioencefálico. Verificou – se que os óbitos gerais por traumatismo cranioencefálico tratados de modo conservador, tendem a aumentar conforme o grau de gravidade (p – valor < 0, 0001). Conclusão: A pesquisa correlacionada às proporções dos tratamentos conservadores do traumatismo cranioencefálico revela – se importante, sobretudo em um País com dimensões continentais e que, por conseguinte, há elevada heterogeneidade dos casos e diferentes TxM entre as regiões. É imprescindível que haja planejamento de prevenção e promoção à saúde para ponderar e discutir acerca do TCE, bem como para elaborar políticas efetivas.

Background Tuberculosis (TB) is an infectious disease caused by the bacterium Mycobacterium tuberculosis and represents an important global public health issue. Single-nucleotide polymorphisms and INDELs are common genetic variations that can be located in genes associated with immune response and, therefore, they may have direct implications over the phenotype of susceptibility to infections like tuberculosis. This study aimed to investigate the association between the 17 genetic polymorphisms and susceptibility to tuberculosis in a Brazilian population. Methods This case-control study enrolled 283 individuals with active tuberculosis and 145 health care workers. Four INDELs and 13 single nucleotide polymorphisms and were genotyped using Multiplex PCR method and TaqMan SNP Genotyping Assays. Group comparisons for categorical variables were performed using the chi-squared test, whilst the t-Student test was used to analyze the continuous variables. Multiple logistic regression analyses were performed to estimate the odds ratio (OR) with 95% confidence intervals (CI). Deviation from Hardy-Weinberg equilibrium was assessed using chi-squared tests with Bonferroni correction. The results were analyzed comparing the genotypic distributions adopting the dominant model and the estimated values ​​of p corrected for multiple tests through FDR (False Discovery Rate) test. Results The HWE test confirmed that the genotypic frequencies for polymorphisms were balanced. The frequency of Del allele was 73 and 75%, in cases and controls respectively. Frequency of Del allele was significantly higher in the control group than TB group. The homozygous Del/Del genotype was present in 51.6% of cases and 58.6% of controls. The rare Ins/Ins genotype was present in only 7.6% of controls and 6% of cases. The ACE Del/Del genotype was significantly higher in the cases than in controls revealing significant protection for TB in the domain model (OR = 0.465; p < 0.005). Conclusions The Del/Del genotype of the rs4646994 in ACE gene was associated with susceptibility to tuberculosis. The identification of genetic variants responsible for susceptibility to tuberculosis will allow the development of new diagnostic tools for tuberculosis infection. These studies will help improve control and the future eradication of this disease.

Objetivo: Investigar a ampliação do conhecimento sobre necessidade do acesso às pessoas com deficiência auditiva aos serviços de saúde. Metodologia: Estudo quantitativo com desenho de estudo descritivo e transversal e faz parte do projeto Libras em saúde da ONG International Federation of Medical Students Association of Brazil, comitê da Universidade Federal do Pará, cujo objetivo geral é investigar o atendimento à pessoa surda na área da saúde na perspectiva acadêmica e, também, do surdo. Resultados: O percentual de avaliações negativas do encontro com profissionais de saúde representou 51% dentre os bilíngues; e 78% no grupo de surdos que se comunicam. Foram entrevistados 56 acadêmicos dos terceiro e quarto anos de medicina da UFPA. O pré-teste evidenciou o desconhecimento dos alunos sobre a cultura surda e a língua de sinais. No pós-teste: os alunos conseguiram diferenciar o surdo da pessoa com deficiência auditiva pela inserção ou não na cultura surda. Conclusão: Pacientes surdos utilizam o sistema de saúde de modo diferente de pacientes ouvintes e relatam dificuldades representadas por medo, desconfiança e frustração. O estudo demonstra que os profissionais da saúde não se encontram preparados para lidar com o atendimento a pessoas com deficiência auditiva, referindo, ainda, a falta de intérpretes para o auxílio nestes atendimentos e a falta de paciência na condução dos procedimentos por meio dos profissionais. Assim, a inclusão do ensino de Libras como sendo disciplina do curso de medicina, se faz um importante instrumento de mudança na realidade social que o deficiente auditivo está incluído atualmente.