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The hyperendemicity and co‐circulation of different dengue serotypes in Brazil have increased the number of severe dengue cases and the rate of hospitalization for dengue. Virological and individual factors are associated with the complexity of the disease. Antigenemia levels of nonstructural glycoprotein‐1 (NS1) have been associated with severe dengue. Aiming to identify a severity marker during the acute phase (days 0 to 5 of disease), the association of NS1 antigenemia with clinical presentation, sex, age range, immune response, number of days of disease, and serotype RNA levels was evaluated in serum samples of patients from the state of Rio de Janeiro clinically classified as having dengue without warning signs (DWWS) or dengue with warning signs/severe dengue (DWWS/SD). The immune response was classified by in‐house enzyme‐linked immunosorbent assay, antigenemia was determined by quantification of NS1, and viremia was quantified by real‐time PCR. Of the total number of patients, 36.6% (74 of 202) presented warning signs/severe dengue and 72.3% (146 of 202) were classified with primary infection. DENV‐2 presented an association between clinical presentation and antigenemia (P = 0.02). DENV‐3 had higher levels of NS1 (P < 0.0001). This study has shown that the infecting serotype influences circulating NS1 levels in the host, as well as NS1 antigenemia may vary as to the clinical presentation of the patient infected with DENV‐2. However, the criterion used to screen patients for clinical presentation, in DWWS and DWWS/SD patients, was not a good marker for dengue severity in our study.

Resumo: A figura do louco, moldada como personagem causador de desordem, associada a temor e periculosidade levou à exclusão do convívio social, com expulsão de cidades e institucionalização de pessoas diagnosticadas com transtornos da mente durante a Idade Média. No século XVIII, o hospital entra como símbolo terapêutico e o médico se torna o responsável pela liberdade, tratamento e isolamento desses indivíduos. A rejeição do convívio social desses pacientes enraíza estigmas e preconceitos que são mantidos no meio médico atual e que necessitam de desconstrução na formação do estudante de medicina. O presente trabalho buscar abrir debates e reflexões de percepções de acadêmicos sobre contato e abordagem de pacientes com transtornos mentais, ensino da saúde mental, trabalho da psiquiatria, terapias integrativas e possíveis impactos na prática clínica, direcionados para melhorias na formação do ensino em saúde. Trata-se de um estudo quali-quantitativo, de abordagem empírica, associado à revisão de literatura, com seleção de 39 artigos, que focam no ensino de saúde mental. Aplicação de questionário em 133 estudantes de medicina de uma universidade privada do Rio de Janeiro, que cursavam o primeiro, sexto período do curso e internato médico. As inferências foram feitas com auxílio do Software SPSS V.16. É destacado o sentimento de medo do estudante de medicina em relação ao primeiro contato com um paciente psiquiátrico, principalmente no início do curso (p=0,000), a necessidade de ampliação do contato do estudante de medicina com a saúde mental (p=0,04), o sentimento de despreparo para atender um portador de transtorno mental, falhas no referenciamento de pacientes para acompanhamento da psiquiatria, manutenção de visão hospitalocêntrica da assistência de saúde mental, carência de conhecimento e contato com terapias integrativas. É essencial que as faculdades de medicina ampliem a carga horária de ensino e contato da saúde mental, em seus diversos campos de atuação no SUS, garantam o suporte e a humanização da assistência, para a formação do médico generalista, e amparo dos estudantes quando os mesmos adoecem.

This study aims to investigate factors associated with serum 25-hydroxyvitamin D [25(OH)D] concentration in Brazilian adults considering sociodemographic and lifestyle factors, as well as vitamin D-related single nucleotide polymorphisms (SNPs). This is a cross-sectional study (n = 491; 34-79y; 251 women), nested within a prospective cohort (Pró-Saúde Study). Associations between serum 25(OH)D and sociodemographic characteristics, diet, use of supplement, physical activity, season of blood collection, body fat, skin type, sun exposure index, and SNPs CYP2R1-rs10741657 and GC-rs2282679 were explored by multiple linear regression. The prevalence of serum 25(OH)D < 50nmol/L was 55%. Serum 25(OH)D was lower among women (β = -4.38; 95%CI: -8.02; -0.74), those with higher visceral fat (β = -4.02; 95%CI: -5.92; -2.12), and those with AC and CC genotypes for GC-rs2282679 (β = -6.84; 95%CI: -10.09; -3.59; β = -10.63; 95%CI: -17.52; -3.74, respectively). Factors directly associated with serum 25(OH)D included summer (β = 20.14; 95%CI: 14.38; 25.90), intermediate skin type (β = 6.16; 95%CI: 2.52; 9.80), higher sun exposure (β = 0.49; 95%CI: 0.22; 0.75), vitamin D intake (β = 0.48; 95%CI: 0.03; 0.93), and physical activity (β = 4.65; 95%CI: 1.54; 7.76). Besides physical activity, diet, and sun exposure, non-modifiable factors, such as GC genotypes must be considered when evaluating vitamin D insufficiency in mixed-race populations. Moreover, high visceral fat in association with poorer vitamin D status deserve attention given that both conditions are unfavorably related with chronic and acute health outcomes.

By the year 2050, the world’s elderly population may increase exponentially, raising the rate of disease characteristic of this group, such as prostate cancer (PCa) and benign prostatic hyperplasia (BPH). Prostate disorders have a multifactorial etiology, especially age and genetic factors. Currently, PCa is the second most frequent neoplasm in the male population worldwide. The fibromodulin gene encodes a small leucine-rich proteoglycan (SLRP) which acts in the collagen fibrillogenesis pathway, cell adhesion, and modulation of TGF-β signaling pathways, which has been recently associated with PCa. The present study sequenced the coding region of the FMOD in a sample of 44 PCa, 90 BPH, and 82 controls from a Brazilian population, and the results identified 6 variants: 2 missenses (p.(Tyr42Ser) and p.(Pro24Ala)); 3 synonymous (p.(His253=), p.(Asn353=), and p.(Glu79=)); and 1 intronic (c.980-114A>G). Of these, p.(Tyr42Ser), p.(Pro24Ala), and p.(Asn353=) are rare variants, and p.(Tyr42Ser) was predicted as potential pathogenic by the algorithms used here, in addition to not being observed in controls, suggesting that may be a potential biomarker for development of PCa and BPH. In conclusion, we identified for the first time, in Brazilian individuals with PCa and BPH, a potentially pathogenic variant in the analysis of FMOD gene. Further studies are needed to investigate the deleterious effect of this variant on the structure and/or function of the FMOD protein.

Purpose The aim of this study was to sequence the coding region of the PAX4 gene in a Brazilian cohort with clinical manifestations of monogenic diabetes. Patients and Methods This study included 31 patients with autosomal dominant history of diabetes, age at diagnosis ≤40 years, BMI <30 kg/m 2 , and no mutations in GCK or HNF1A, HNF4A , and HNF1B . Screening of the PAX4 coding region was performed by Sanger sequencing. In silico algorithms were used to assess the potential impact of amino acid substitutions on protein structure and function. Additionally, PAX4-MODY family members and 158 control subjects without diabetes were analyzed for the identified mutation. Results The molecular analysis of PAX4 has detected one missense mutation, p.Arg164Gln (c.491G>A), segregating with diabetes in a large Brazilian family. The mutation was absent among the control group. The index case is a woman diagnosed at 32 years of age with polyneuropathy and treated with insulin. She did not present diabetic renal disease or retinopathy. Family members with the PAX4 p.Arg164Gln mutation have a heterogeneous clinical manifestation and treatment response, with age at diagnosis ranging from 24 years to 50 years. Conclusion To the best of our knowledge, this is the first study to report a PAX4-MODY family in Brazil. The age of PAX4-MODY diagnosis in the Brazilian family seems to be higher than the classical criteria for MODY. Our results reinforce the importance of screening large monogenic diabetes families for the understanding of the clinical manifestations of rare forms of diabetes for the specific and personalized treatment.