Publications by authors named "Antonette Souto El Husny"
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
Objective: To describe a novel KAL1 mutation in patients affected by Kallmann syndrome.
Setting: Endocrinology Clinic of the João de Barros Barreto University Hospital - Federal University of Pará, Brazil.
Methods: Clinical examination, hormone assays and sequencing of exons 5, 6 and 9 of the KAL1 gene in four Brazilian brothers with Kallmann syndrome.
Unlabelled: In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics.
Methods: X- ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to determine their genetic status, characterize the mutations and improve the genetic counseling of their families. All samples were screened by SSCP analysis of PCR fragments, followed by automated DNA sequencing to establish the specific mutation in each family.