Publications by authors named "Bethania de Freitas Rodrigues Ribeiro"
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Bibiana Mello de Oliveira Filipe Andrade Bernardi João Francisco Baiochi Mariane Barros Neiva Milena Artifon Bethania de Freitas Rodrigues Ribeiro Erlane Marques Ribeiro
Orphanet J Rare Dis
October 2024
Article Synopsis
- - The Brazilian Rare Diseases Network (RARAS) was established in 2020 to conduct a nationwide epidemiological survey on rare diseases (RDs) in Brazil, addressing the lack of comprehensive national data since the Comprehensive Care Policy for RDs began in 2014.
- - A total of 12,530 patients were surveyed, with a median age of 15 years; significant findings included that 63.2% had confirmed diagnoses, primarily of phenylketonuria, cystic fibrosis, and acromegaly, and average diagnostic delays lasting 5.4 years.
- - The majority of diagnoses and treatments were funded by the Public Health System, with notable rates of hospitalization (44.5%) and a mortality rate
Background: Oropouche fever, an orthobunyavirus disease endemic in Brazilian Amazon, has caused many febrile epidemics. In 2024, an epidemic of Oropouche fever spread in Brazil, with more than 7930 cases reported between Jan 1 and Aug 31. Infections in pregnant people have suggested the possibility of negative fetal consequences, therefore we tested newborns with microcephaly for known congenital pathogens and Oropouche virus (OROV).
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