Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)

Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 of the GALNS gene. Six out of the 10 mutant alleles were identified. Taken together with a previous study, which included six unrelated families, common mutations among Brazilian patients were p.N164T, p.G116S and p.G301C. Among one hundred control subjects three novel silent mutations were found (p.A107A; GCC -> GCT, p.Y108Y; TAC -> TAT, p.P357P; CCG -> CCA). Screening starting with exons 4, 5, 9, 10 and 11 may be a good strategy for genotyping of Brazilian patients since these exons include 73 percent of all mutations identified in the current and previous studies.

Avaliação do conhecimento sobre medicamentos e saúde em pacientes odontológicos / Evaluation of knowledge on medication and healthcare in dental patients

Existem poucos dados sobre o conhecimento da população sobre saúde. Este estudo investiga o conhecimento em relação à saúde e ao uso de medicamentos e remédios por parte de pacientes ambulatoriais de uma Faculdade de Odontologia do Sul do Brasil. Para isso, foi usado um questionário que abordou questões relativas à saúde e ao uso e conhecimento de medicamentos. A amostra consistiu de 89 pacientes. A maioria deles (58,3%) considera que a origem das doenças que acometem a cavidade oral é de responsabilidade individual e/ou social. Mais da metade dos entrevistados (55,1%) relata seguir perfeitamente as orientações do prescritor. Menos da metade (44,9%) já usou medicamentos indicados por pessoa leiga. Apesar de estarem esperando por tratamento odontológico, 50,6% negaram ter problema de saúde. A maioria dos entrevistados (58,4%) não relata problemas em seguir uma prescrição. Entretanto, quando feitas questões induzidas, quase 80% da amostra apontaram dificuldades, como preço e efeitos adversos. Após análise dos dados observa-se a falta de conhecimento das pessoas em relação ao tema saúde, especialmente no que se refere a medicamentos.

There are few studies about the population knowledge on health. This paper investigates the knowledge on health and use of medication and remedies in office patients of a Dental Faculty of Southern Brazil. A questionnaire which included questions related to health and use and knowledge of medications was used. The sample consisted of 89 patients. The majority of them (58.3%) believe that general diseases and oral diseases are caused by individual or social responsibility. Most patients (55.1%) refer to follow strictly the prescriptor’s instructions. Less than half of the interviewees (44.9%) had already taken medications indicated by laymen. Although the sample was awaiting for a dental appointment, 50.6% denied having any health problems. The majority of the interviewees (58.4%) did not report problems on following a prescription. However, when they were given choices, almost 80% of the sample reminded hindrances as price and side effects. After analyzing the data we can observe the lack of knowledge of people in relation to the subject health, especially medication.