Publications by authors named "A S Grumach"
Selective IgM deficiency (SIgMD) has recently been included in the inborn errors of immunity classification. SIgMD has conflicting diagnostic criteria and diverse clinical and immunological findings. We aimed to assess the clinical and laboratory profiles of patients with SIgMD and to compare the data of patients diagnosed using two inclusion criteria.
View Article and Find Full Text PDFDespite the use of long-term prophylaxis (LTP) for hereditary angioedema (HAE), the risk of having an attack remains and patients with HAE and on LTP may still experience attacks that can be life threatening. However, the behavioral patterns and perspectives surrounding HAE attack management by patients on LTP are not fully understood. This survey aimed to better understand and compare the behavioral patterns and perspectives, including attitudes and perceptions associated with on-demand treatment among patients on LTP versus those using on-demand therapy only.
View Article and Find Full Text PDFArticle 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
Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008.
View Article and Find Full Text PDFIntroduction: Hereditary angioedema (HAE) is a rare genetic disease characterized by submucosal and subcutaneous edema with high morbidity and possibility of mortality. This study presents the sociodemographic characteristics of a large Brazilian family with HAE.
Methods: Descriptive cross-sectional study with patients from two family branches coming from the same city and HAE diagnosis was carried out.