Prevalence of ∆F508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil

ABSTRACT: Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. The DF508 mutation (a deletion of 3 bp) was only analyzed by polyacrylamide gel electrophoresis and stained with AgNO3. Each sample was analyzed for regions of interest in the CFTR gene using amplified by PCR and specific primers. The DF508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. In 74.3% of the remaining patients, none of the mutations investigated was found. The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc.) the most frequent mutation ( DF508) in the North region of Brazil and is also the first report of the G551D mutation. In spite of the wide spectrum of CF mutations and the heterogeneous ethnic origin of the Amazon population, the molecular diagnosis is a helpful additional tool for the diagnosis and treatment of CF patients.

Seguimento de regras nutricionais em crianças com excesso de peso

Foram avaliados efeitos de instruções, treino de relato verbal (TRV) e treino de automonitoração (TA), com e sem a presença do cuidador principal, sobre o seguimento de regras nutricionais em crianças com excesso de peso. Participaram duas crianças (P1: menino de 9 anos; P2: menina de 11 anos) e suas cuidadoras, por meio de entrevistas em ambulatório. Após instruções, P1 manteve e P2 melhorou o conhecimento das orientações nutricionais. Os Índices de adesão à dieta obtidos por P2 foram mais elevados do que os obtidos por P1 em todas as fases. Houve mudança com significância clínica após introdução de TRV em ambos os participantes. Discute-se a eficácia dos procedimentos de intervenção utilizados e a importância da presença do cuidador.