Publications by authors named "J A M Saute"
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
Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
J Pediatr (Rio J)
January 2025
Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.
Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.
Article Synopsis
- A recent study analyzed 38 patients with cerebrotendineous xanthomatosis (CTX) across six genetics centers in Brazil, marking the largest CTX case series in South America.
- The study identified 13 variants in the CYP27A1 gene, including three not previously reported, and highlighted cataracts as the most common initial symptom of CTX in the Brazilian cohort.
- The research also found a correlation between the age of onset of neurological symptoms and the age when patients lose the ability to walk, with a median gap of about 10 years.
Limb-girdle muscular dystrophy type 2G/R7 (LGMD2G/R7) is an ultra-rare condition initially identified within the Brazilian population. We aimed to expand clinical and genetic information about this disease, including its worldwide distribution. A multicenter historical cohort study was performed at 13 centers in Brazil in which data from index cases and their affected relatives from consecutive families with LGMD2G/R7 were reviewed from July 2017 to August 2023.
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