Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.

Na prática fisioterapêutica, pressupõe-se que alterações posturais do membro inferior influenciem a biomecânica e função dos demais complexos durante o movimento. No entanto, a literatura sobre a relação entre desalinhamentos estáticos do joelho e possíveis alterações dinâmicas ainda é escassa e inconclusiva. Assim, buscou-se avaliar o efeito do alinhamento frontal estático do joelho sobre a distribuição da pressão plantar durante a marcha. Foram avaliados inicialmente 44 adultos jovens assintomáticos. Por fotogrametria digital, mediu-se o ângulo frontal do joelho, classificado como normal (170° a 175°), valgo <170º e varo >175°. Dado o baixo número de valgos, foram analisados dois grupos: de joelhos normais (n=18) e de joelhos varos (n=23). A distribuição da pressão plantar foi avaliada durante a marcha em cinco áreas. Os grupos mostraram-se estatistica-mente semelhantes em todas as variáveis cinéticas avaliadas em todas as áreas plantares. Joelhos normais apresentaram significativa correlação com o tempo de contato no antepé lateral e médio-pé; e os varos, correlação com a área e tempo de contato em duas e três áreas plantares, e com a pressão integral no antepé lateral. Os resultados mostraram que o desalinhamento frontal de 3° do joelho, embora com moderada correlação, não influencia a distribuição de cargas na superfície plantar durante a marcha. Sugere-se pois que a avaliação clínica não se limite à avaliação articular estática do joelho, mas inclua atividades dinâmicas.

In physical therapy practice, it is assumed that lower-limb posture changes may influence other complexes' biomechanics or function during movement. However, literature on the relationship between static knee alignment and possible dynamic changes is still scarce and inconclusive. This study assessed the effect of static frontal knee alignment on plantar pressure distribution during gait. At first 44 young asymptomatic adults were evaluated. Front knee angles were measured by digital photogrammetry and classified as normal (170° to 175°), valgus <170°, or varus >175°. Given the low number of valgus found, two groups were analysed: normal knees (n=18) and varus knees (n=23). Plantar pressure distribution was measured during gait in five plantar surface areas. Groups were found to be statistically similar in all kinetic variables assessed in all plantar surface areas. Normal knees showed significant correlation with the contact time at lateral forefoot and midfoot. Varus knees showed correlation with contact area and time at respectively two and three plantar areas, and with full pressure at lateral forefoot. Results thus show that a 3° frontal knee malalignment, though with moderate correlation, does not influence pressure distribution on plantar surface during gait. It is hence suggested that clinical evaluation should not be limited to static knee assessment, but rather include dynamic activities.