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.
Background: Multiple studies continue to evaluate the use of intracardiac echocardiography (ICE) and transesophageal echocardiography (TEE) for guiding left atrial appendage occlusion (LAAO).
Objective: The purpose of this study was to conduct an updated meta-analysis comparing the effectiveness and safety outcomes of both imaging modalities.
Methods: PubMed, Cochrane, and Embase were searched for studies comparing ICE vs TEE to guide LAAO.
Heart Fail Rev
September 2024
Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families, following an autosomal dominant pattern where first-degree relatives have a 50% chance of carrying the pathogenic variant. Despite significant advancements and increased accessibility of genetic testing, accurately predicting the phenotypic expression of these conditions remains challenging due to the inherent variability in their clinical manifestations and the incomplete penetrance observed.
View Article and Find Full Text PDFBackground: Leadless pacemakers (LPs) are promising alternatives to traditional transvenous pacemakers (TVPs), but their comparative effectiveness and safety in clinical outcomes remain uncertain.
Methods: We systematically searched PubMed, Embase, Scopus, Cochrane, and ClinicalTrials.gov for studies comparing LPs and TVPs.
Background: The efficacy and safety of adjunctive low-voltage area (LVA) ablation on outcomes of catheter ablation (CA) for atrial fibrillation (AF) remains uncertain.
Methods: PubMed, Embase, Cochrane Library, and ClinicalTrials.gov were searched for randomized controlled trials (RCTs) comparing CA with versus without LVA ablation for patients with AF.
Primary hepatic liposarcoma is an extremely rare malignant tumour derived from adipocytes and is part of the group of mesenchymal tumours. We present the case of a 43-year-old Hispanic male patient with a pleomorphic hepatic liposarcoma and absence of MDM2 gene amplification. Two years and six months after surgery, the patient is asymptomatic.
View Article and Find Full Text PDFBackground: Concern about disease exacerbations and fear of reactions after coronavirus disease 2019 (COVID-19) vaccinations are common in chronic urticaria (CU) patients and may lead to vaccine hesitancy.
Objective: We assessed the frequency and risk factors of CU exacerbation and adverse reactions in CU patients after COVID-19 vaccination.
Methods: COVAC-CU is an international multicenter study of Urticaria Centers of Reference and Excellence (UCAREs) that retrospectively evaluated the effects of COVID-19 vaccination in CU patients aged ≥18 years and vaccinated with ≥1 dose of any COVID-19 vaccine.
Background: Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of subcutaneous or mucosal edema caused by excess bradykinin. The aim of the present study was to assess the knowledge of pediatricians about hereditary angioedema.
Methods: An online survey with 12 HAE-related and 14 demographics-related questions was e-mailed to all pediatricians who were members of the Brazilian Society of Pediatrics (n = 17 145) once a week during the months of June and July 2021.
The trend of replacing antimicrobials as growth promoters in animal nutrition is growing. Functional oils emerge as an alternative because of their richness in bioactive compounds and bioavailability. The present study aims to evaluate the fatty acid profile, antioxidant capacity, composition of phenolic compounds, and toxic capacity in Wistar rats of pracaxi oil (Pentaclethra macroloba).
View Article and Find Full Text PDFAsthma, rhinitis, and atopic dermatitis (AD) are interrelated clinical phenotypes that partly overlap in the human interactome. The concept of "one-airway-one-disease," coined over 20 years ago, is a simplistic approach of the links between upper- and lower-airway allergic diseases. With new data, it is time to reassess the concept.
View Article and Find Full Text PDFMASK-air , a validated mHealth app (Medical Device regulation Class IIa) has enabled large observational implementation studies in over 58,000 people with allergic rhinitis and/or asthma. It can help to address unmet patient needs in rhinitis and asthma care. MASK-air is a Good Practice of DG Santé on digitally-enabled, patient-centred care.
View Article and Find Full Text PDF1. An experiment was carried out to validate techniques as predictive diagnostic tools for breast myopathies and to study the allometric growth of distinct parts of the body and meat quality of broilers.2.
View Article and Find Full Text PDFObjective: To assess the profile of allergist/immunologist (A/I) physicians in Brazil, the workplace, the access to diagnostic and therapeutic procedures, and the impact of the COVID-19 pandemic on professional practice.
Methods: This cross-sectional study was conducted as an survey. All adhering members of the Brazilian Association of Allergy and Immunology (ASBAI) received a tool by email.
Objective: To assess the prevalence of the eosinophilic and allergic phenotypes of severe asthma in Brazil, as well as to investigate the clinical characteristics of severe asthma patients in the country.
Methods: This was a cross-sectional study of adult patients diagnosed with severe asthma and managed at specialized centers in Brazil. The study was conducted in 2019.
An experiment was conducted to validate non-invasive evaluation techniques as evaluation tools for the myopathies wooden breast and white striping that affect broilers, using biopsy as a support tool. It evaluated 30 Cobb 500® broiler chickens in a completely randomized design consisting of two sexes (males and females) and 15 replications per treatment. At 14, 21, 35, 42 and 49 days, the surface temperature of the birds' breasts was recorded using infrared thermography, analysis of fillet depth, and echogenicity by ultrasound imaging.
View Article and Find Full Text PDFBackground: Asthma control is not well reflected by spirometry, yet this is the most frequently used measure of lung function in asthma clinics. Oscillometry is an alternative technique suitable for those with severe asthma.
Objective: To investigate usefulness of oscillometry in subjects with severe asthma to determine which outcome variables best reflected asthma control.