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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.

The aim of this work was to evaluate the association between milk flow, teat morphological measurements and subclinical mastitis prevalence in Gir cows. Eighty cows in the 2nd and 3rd lactations, with 90 to 200 days of lactation, were divided according to milk flow during milking into fast or slow groups. Teat morphometry was assessed by ultrasound scanning of the right anterior teat and external measurements. Milk samples were collected for somatic cells count (SCC) and microbiological culture. The effect of milk flow during milking was evaluated by analysis of variance of milk yield, SCC, morphometry and external measurements. The association of morphometry and external measurements of the teats with the SCC and microorganisms found in milk were analysed. Milk flow was significantly correlated to milk production. Gir cows with slower milk flow had longer teat canal and greater milk yield, in comparison to cows with fast milk flow. Teat-end to floor distance influenced SCC of Gir cows. Prevalence of subclinical mastitis and the type of mastitis-causing pathogens were not affected by milk flow during milking O objetivo deste trabalho foi avaliar a associação entre o fluxo de leite, a morfometria dos tetos e a prevalência de mastite subclínica em vacas Gir. Oitenta vacas em 2ª ou 3ª lactação, com 90 a 200 dias de lactação, foram divididas, de acordo com o fluxo de leite durante a ordenha, nos grupos rápido ou lento. A morfometria de tetos foi avaliada por imagens de ultrassom do teto anterior direito e medidas externas dos tetos. Amostras de leite foram coletadas para a contagem de células somáticas (SCC) e a cultura microbiológica. O efeito do fluxo de leite durante a ordenha foi avaliado pela análise de variância de produção de leite, SCC, morfometria e medidas externas dos tetos. Foi analizada a associação entre a morfometria e medidas externas dos tetos e a SCC e microganismos encontrados no leite. O fluxo de leite foi significativamente correlacionado à produção de leite. As vacas Gir com fluxo de leite mais lento tinham maior comprimento de canal dos tetos e maior produção de leite, em comparação a vacas de fluxo rápido. A distância do teto ao solo influenciou a SCC das vacas Gir. A prevalência de mastite subclínica e o tipo de microrganismo causador de mastite não foram alterados pelo fluxo de leite durante a ordenha