Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

Oral and maxillofacial trauma in brazilian children and adolescents

Crianças e adolescentes freqüentemente são vítimas de trauma nas regiões oral e maxilofacial. O objetivo deste estudo foi determinar as características do trauma na região oral e maxilofacial que resultaram em registros policiais, em crianças e adolescentes na faixa etária de 0 a 16 anos, por um período de 5 anos. Dos 28.200 laudos avaliados, 463 foram incluídos na pesquisa. A taxa homem:mulher observada foi de 1,6:1 e a faixa etária de maior ocorrência foi a de 15-16 anos (44,40%). A maioria dos casos de trauma foi decorrente de agressão física (64,50%) e resultou em lesão de tecido mole (80,36%). Entre os tipos mais freqüentes, destacam-se as escoriações (28,64%) e quanto à localização, a região maxilar (22,63%). O tipo de lesão dental mais comum foi trauma dental (54,76%), e as fraturas ósseas predominaram nas regiões nasal (36,7%). Os resultados encontrados podem auxiliar no planejamento e execução de medidas preventivas e direcionar medidas curativas dirigidas a este grupo populacional.