ABSTRACT. The objective of this study was to perform a study of fragile X syndrome (FXS) in São Luís, Maranhão, in males residing in five specialized institutions. Two hundred thirty-eight males with intellectual disability of unknown etiology participated in this study. Blood samples were processed and stored until DNA extraction. Screening for FMR1 gene mutations was performed using non-isotopic polymerase chain reaction amplification and DNA sequencing using an ABI Prism 3130 automated sequencer. Two individuals (0.84%) were positive for FMR1 mutations. One had a mutation due to expansion of the CGG M.T.M. Viveiros et al. 6898©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 6897-6905 (2015) repeat beyond normal levels and the other had a deletion in exon 1 of the FMR1 gene, which was confirmed by sequencing. Both probands were over 18 years old, which demonstrates the late diagnosis of the condition in these individuals and reinforces the need to implement effective programs for early diagnosis of FXS in the state of Maranhão. We found that FXS might be transmitted in the families of the two individuals bearing the mutation, and that it is important to understand the mutation dynamics to provide better counseling to the family members of these two individuals.

Estudo transversal e descritivo com o objetivo de determinar a prevalência do consumo de álcool entre acadêmicos de Educação Física de uma universidade pública de São Luís - MA. A amostra probabilística foi constituída por 80 estudantes. Identificou-se o seguinte perfil: 44 homens e 36 mulheres, com idade predominante na faixa etária entre 18 e 21 anos, maioria católicos e renda familiar entre R$ 1.440,00 e R$ 2.400,00. A prevalência do uso de álcool foi de 95%, sendo maior entre homens (97,72%). O uso problemático do álcool, detectado pelo teste CAGE, evidenciou que 15% apresentavam problemas físico-psíquicos, sendo que 23,75% referiram ter faltado aula nos últimos 30 dias em decorrência do consumo de bebidas alcoólicas. O estudo evidenciou uma parcela considerável de universitários que apresentavam nível exacerbado de consumo de bebidas alcoólicas, o que chama atenção para a necessidade de se abordar a temática do alcoolismo no cenário acadêmico.