Swimmer syndrome affecting an entire litter of kittens

A síndrome do filhote nadador é uma anormalidade do desenvolvimento caracterizada pelo atraso na capacidade de marcha e deslocamento, a qual se manifesta por volta dos 15 a 20 dias de idade. Os animais apresentam a articulação coxofemoral em constante abdução, deslocando os membros pélvicos lateral e caudalmente. Este trabalho relata uma ninhada de três filhotes felinos, sem raça definida, de 26 dias de idade, acometidos por síndrome do filhote nadador, e discute possíveis causas, complicações e tratamentos. Os filhotes foram submetidos à fisioterapia, algemas e bandagens, as quais mantiveram os membros pélvicos flexionados junto ao corpo. Ao final de sete dias, todos os filhotes apresentavam deambulação normal, e o tratamento proposto pode ser considerado curativo para felinos.

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.