Background: Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. Identification of spinal muscular atrophy carriers has important implications for individuals with a family history of the disorder and for genetic counseling. The aim of this study was to determine the frequency of carriers in a sample of the nonconsanguineous Brazilian population by denaturing high-performance liquid chromatography (DHPLC). Methods: To validate the method, we initially determined the relative quantification of DHPLC in 28 affected patients (DHPLC values: 0.00) and 65 parents (DHPLC values: 0.49–0.69). Following quantification, we studied 150 unrelated nonconsanguineous healthy individuals from the general population. Results: Four of the 150 healthy individuals tested (with no family history of a neuromuscular disorder) presented a DHPLC value in the range of heterozygous carriers (0.6–0.68). Conclusions: Based on these results, we estimated there is a carrier frequency of 2.7% in the nonconsanguineous Brazilian population, which is very similar to other areas of the world where consanguineous marriage is not common. This should be considered in the process of genetic counseling and risk calculations.

Background: The efficacy of naltrexone in the treatment of alcohol use disorder (AUD) has been associated with a set of variables not directly related with the expression of opioid receptors. All the variables have been found to be highly associated with AUD itself or more severe clinical levels of AUD. Objectives: Given the high association between alcohol metabolizing enzymes (AME) and the outcome of AUD, the present study aims to investigate the role of AME genotype variants in the treatment of AUD with naltrexone. Methods: We carried out a 12-week longitudinal clinical trial based on the treatment of AUD patients with naltrexone (N = 101), stratified by different alcohol metabolization genotypes. Genotyping was performed after the inclusion of the patients in the study, based on the individual presence of single nucleotide polymorphisms (SNPs) in the ADH (alcohol dehydrogenase)1B (ADH1B*2 and ADH1B*3), ADH1C (ADHC*1) and ALDH (aldehyde dehydrogenase) 2 (ALDH2*2) genes. The outcome of alcohol use has been monitored employing the timeline follow-back during the treatment. Results: The ADH1C*1 (Ile350Val, rs698) and ALDH2*2 (Glu504Lys, rs671) polymorphisms were associated with a better response to naltrexone treatment, whereas the ADH1B*3 (Arg370Cys, rs2066702) allelic variant showed a negative outcome. Conclusions: The present study explores a genomic setting for the treatment of AUD with naltrexone. According to our findings, the association between ADH1C*1 and ALDH2*2 variants and better outcomes suggests a successful treatment, whereas the ADH1B*3 mutated allele might lead to an unsuccessful treatment. Further studies should be performed to investigate the relationship between alcohol metabolizing genotypes, the family history of alcohol use disorders and the effect of naltrexone on the outcomes. Genotyping may be a valuable tool for precision-medicine and individualized approach, especially in the context of alcohol use disorders. The small number of subjects was the main limitation of the present study.

RESUMOObjetivo: a Gardnerella vaginalis,, isoladamente ou associada ao Mobiluncus sp., é um dos principais agentes causadores de infecções em mulheres em idade reprodutiva, seja pela falta de hábitos de higiene adequados, número de parceiros sexuais ou desequilíbrios da microflora vaginal. Assim, buscou-se verificar a prevalência de G. vaginalis e/ou Mobiluncus sp., associadas às condições sócio-culturais em mulheres atendidas no Hospital de Quatro Bocas de Tomé-Açu -Pará, através de exame preventivo de câncer de colo do útero. Método e Resultados: analisados materiais cervico-vaginais e informações sócio-culturais de 156 mulheres, com faixas etárias de 17 e 73 anos, período de outubro de 2003 a julho de 2004, para o diagnóstico de prevenção de câncer ginecológico. Todas as amostras foram processadas de modo convencional e analisadas no Laboratório de Citopatologia da Universidade Federal do Pará por três observadores (estudo cego). Como resultados verificou-se que das 156 mulheres pesquisadas , a maior prevalência estava associada à G. vaginalis (48,15%), faixa etária de 21 a 30 anos, ou pela associação G. vaginalis e Mobiluncus sp (36,36%). Em relação ao grau de escolaridade e ocupação, a maior prevalência ocorreu em mulheres com 1º grau incompleto (47,37%), com atividades do lar (21,05%) e comércio (22,81%). Conclusões: estes dados reforçam pesquisas que relacionam a prevalência de G. vaginalis e/ou Mobiluncus sp, em mulheres com vida sexual e menor grau de escolaridade.

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