XXXX in Brazil: a panorama of the last two decades.

@entity1 @entity16 @entity245 @entity6602
OBJECTIVE: To characterize a sample of Brazilian @entity1 with @entity6602 ( @entity6602 ) diagnosed between 1992 and 2011. METHODS: In this retrospective study, @entity1 were identified through a national reference laboratory for the diagnosis of @entity6602 and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three @entity1 from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p=0.001). Only three (3.6%) @entity1 were diagnosed before the onset of clinical manifestations. A comparison between @entity1 with (n=12) and without (n=71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of @entity1 have some @entity245 . CONCLUSION: In Brazil, @entity1 with @entity6602 are usually diagnosed late and exhibit @entity16 and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of @entity6602 should be developed and implemented in the country.
