Publications by authors named "F Sarquis Serpa"
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFBackground: Cardiac myosin inhibitors (CMI) have emerged as the first disease-specific, noninvasive therapy with promising results in patients with hypertrophic cardiomyopathy. However, its role in obstructive hypertrophic cardiomyopathy (oHCM) remains uncertain, especially in secondary endpoints of randomized controlled trials (RCTs).
Methods: We systematically searched PubMed, Embase, Web of Science, and Clinicaltrials.
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
Article Synopsis
- Direct Oral Anticoagulants (DOACs) are commonly used for treating non-valvular atrial fibrillation (NVAF), but Percutaneous Left Atrial Appendage Occlusion (LAAO) is a new treatment method with uncertain safety and effectiveness compared to DOACs.
- A systematic review of ten studies involving over 18,500 patients found that LAAO is linked to lower all-cause and cardiovascular mortality rates, as well as a reduction in the composite outcomes of death, bleeding, and thromboembolic events.
- While LAAO showed trends toward reduced stroke or TIA events and lower bleeding rates compared to DOACs, no significant differences in thromboembolic events were observed.
Article Synopsis
- * In cases of poor response to initial medical treatment, surgery is typically required to remove the cysts.
- * Two cases of young females with hydatid cysts are presented: one with cysts in both lungs and liver needing surgery after medical failure, and another misdiagnosed case where surgery was indicated due to persistent symptoms.