MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

Esquema reduzido de vacinacao anti-rabica humana pre-exposicao e avaliacao de doses anuais de reforco. / Reduced schedule of human pre-exposure antirabies vaccination and evaluation of annual booster doses

Sao apresentados os resultados do emprego de esquema de vacinacao anti-rabica humana pre-exposicao, constituido de 3 doses de vacina tipo Fuenzalida-Palacios administradas a 165 pacientes em dias alternados, mais uma dose de reforco no 30o dia apos a dose inicial. Os titulos de anticorpos foram determinados por prova de soroneutralizacao em amostras de sangue colhidas antes, 30 e 40 dias apos administracao da primeira dose. Verificou-se que no 30o dia, 74,6% dos pacientes apresentaram anticorpos neutralizantes no soro,valor que se elevou a 98,1% no quadragesimo dia, o que mostra a eficacia do esquema em relacao a resposta imunitaria em tempo relativamente curto e a importancia da dose de reforco como estimulo a producao de anticorpos.Nos pacientes submetidos as doses anuais de reforco num periodo de 10 anos, verificou-se aumento gradual da presenca de anticorpos antes da administracao da dose de reforco subsequente, ate atingir valores de 100%. Face aos resultados obtidos foi sugerido que as doses de reforco sejam administradas a intervalos de tempo maiores e precedidas da titulagem de anticorpos a fim de se avaliar da necessidade ou nao de sua administracao