Enhancing Arrhythmogenic Right Ventricular Cardiomyopathy Detection and Risk Stratification: Insights from Advanced Echocardiographic Techniques.

Introduction: The echocardiographic diagnosis criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) are highly specific but sensitivity is low, especially in the early stages of the disease. The role of echocardiographic strain in ARVC has not been fully elucidated, although prior studies suggest that it can improve the detection of subtle functional abnormalities. The purposes of the study were to determine whether these advanced measures of right ventricular (RV) dysfunction on echocardiogram, including RV strain, increase diagnostic value for ARVC disease detection and to evaluate the association of echocardiographic parameters with arrhythmic outcomes.

Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults.

Background And Aims: The early diagnosis of familial hypercholesterolaemia is associated with a significant reduction in cardiovascular disease (CVD) risk. While the recent use of statistical and machine learning algorithms has shown promising results in comparison with traditional clinical criteria, when applied to screening of potential FH cases in large cohorts, most studies in this field are developed using a single cohort of patients, which may hamper the application of such algorithms to other populations. In the current study, a logistic regression (LR) based algorithm was developed combining observations from three different national FH cohorts, from Portugal, Brazil and Sweden.

Does Myocardial Injury Occur After an Acute Aerobic Exercise Session in Patients with Refractory Angina?

Background: It is unclear whether exercise is safe in patients with more advanced forms of coronary artery disease, such as those with refractory angina (RA).

Objective: We aimed to determine the effect of an acute aerobic exercise session (AAES) on high-sensitivity cardiac troponin T (hs-cTnT) levels in patients with RA.

Methods: This was a longitudinal, non-randomized, and non-controlled clinical study.

Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.

PCSK9 gain-of-function (GOF) variants increase degradation of low-density lipoprotein receptor (LDLR) and are potentially associated with Familial Hypercholesterolemia (FH). This study aimed to explore the effects of PCSK9 missense variants on protein structure and interactions with LDLR using molecular modeling analyses and in vitro functional studies. Variants in FH-related genes were identified in a Brazilian FH cohort using an exon-target gene sequencing strategy.

In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is a prevalent autosomal genetic disease associated with increased risk of early cardiovascular events and death due to chronic exposure to very high levels of low-density lipoprotein cholesterol (LDL-c). Pathogenic variants in the coding regions of LDLR, APOB and PCSK9 account for most FH cases, and variants in non-coding regions maybe involved in FH as well. Variants in the upstream region of LDLR, APOB and PCSK9 were screened by targeted next-generation sequencing and their effects were explored using in silico tools.

Effect of Occurrence of Lamin A/C () Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Objective: Mutations in the ) gene are commonly associated with cardiac manifestations, such as dilated cardiomyopathy (DCM) and conduction system disease. However, the overall spectrum and penetrance of rare variants are unknown. The present study described the presence of in patients with "lone atrial fibrillation (AF)" as their sole clinical presentation.

Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.

Background: Familial hypercholesterolemia (FH) is a genetic disease characterized by elevated serum levels of low-density lipoprotein cholesterol (LDL-C), and it is associated with the occurrence of early cardiovascular disease. In Brazil, HipercolBrasil, which is currently the largest FH cascade screening program, has already identified more than 2000 individuals with causal genetic variants for FH. The standard approach is based on cascade screening of referred index cases, individuals with hypercholesterolemia and clinical suspicion of FH.

Metabolomic Evaluation of Chronic Periodontal Disease in Older Adults.

Periodontal disease is an infectious inflammatory disease related to the destruction of supporting tissues of the teeth, leading to a functional loss of the teeth. Inflammatory molecules present in the exudate are catalyzed and form different metabolites that can be identified and quantified. Thus, we evaluated the inflammatory exudate present in crevicular fluid to identify metabolic biological markers for diagnosing chronic periodontal disease in older adults.

Atrial Fibrillation Diagnosis using ECG Records and Self-Report in the Community: Cross-Sectional Analysis from ELSA-Brasil.

Background: Atrial fibrillation or flutter (AFF) is the most common sustained cardiac arrhythmia. Limited data can be found on AFF epidemiology in South America.

Objective: The present study sought to describe the clinical epidemiology of AFF and the use of stroke prevention medication in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) baseline assessment.

Chagas disease is not associated with diabetes, metabolic syndrome, insulin resistance and beta cell dysfunction at baseline of Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

Chagas disease (ChD) affects millions of people worldwide, being endemic in Latin America and emerging in the United States and Europe. Classically described as targeting the heart and gastrointestinal tract, Trypanosoma cruzi parasitism leads to structural and pro-inflammatory changes in the adipose tissue and pancreas. The effects of these changes on insulin resistance (IR), beta cell dysfunction, diabetes mellitus (DM),and metabolic syndrome (MS) are unclear.

Loss of mTORC2 Activity in Neutrophils Impairs Fusion of Granules and Affects Cellular Metabolism Favoring Increased Bacterial Burden in Sepsis.

Sepsis is a complex infectious syndrome in which neutrophil participation is crucial for patient survival. Neutrophils quickly sense and eliminate the pathogen by using different effector mechanisms controlled by metabolic processes. The mammalian target of rapamycin (mTOR) pathway is an important route for metabolic regulation, and its role in neutrophil metabolism has not been fully understood yet, especially the importance of mTOR complex 2 (mTORC2) in the neutrophil effector functions.

10-hydroxy-2E-decenoic acid (10HDA) does not promote caste differentiation in Melipona scutellaris stingless bees.

In bees from genus Melipona, differential feeding is not enough to fully explain female polyphenism. In these bees, there is a hypothesis that in addition to the environmental component (food), a genetic component is also involved in caste differentiation. This mechanism has not yet been fully elucidated and may involve epigenetic and metabolic regulation.

Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol.

Background: Familial hypercholesterolemia (FH) is a genetic disease that affects millions of people worldwide.

Objectives: The study protocol FHBGEP was design to investigate the main genomic, epigenomic, and pharmacogenomic factors associated with FH and polygenic hypercholesterolemia (PH).

Methods: FH patients will be enrolled at six research centers in Brazil.

Relationship between periodontitis and subclinical risk indicators for chronic non-communicable diseases.

In view of the epidemiological relevance of periodontal disease and chronic noncommunicable diseases, the study aimed to evaluate the relationship between them through subclinical indicators of systemic risk in a population group with healthy habits, including alcohol and tobacco abstinence. A complete periodontal examination of six sites per tooth was performed in a sample of 420 participants from the Advento study (Sao Paulo), submitted to anthropometric and laboratory evaluation. Periodontitis was defined and classified based on the Community Periodontal Index score 3 (periodontal pocket = 4-5 mm) and score 4 (periodontal pocket ≥ 6 mm).

Association between body adiposity index and coronary risk in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

Background & Aims: The body adiposity index (BAI) was recently proposed as a better indicator of body adiposity than body mass index in adults. The association between BAI and cardiometabolic risk factors has been widely investigated. However, the strength and magnitude of these associations varied as a function of the endpoint evaluated, the study design, the population investigated, and the cut-off points used.

Integrated proteomics and metabolomics analysis reveals differential lipid metabolism in human umbilical vein endothelial cells under high and low shear stress.

Atherosclerotic plaque development is closely associated with the hemodynamic forces applied to endothelial cells (ECs). Among these, shear stress (SS) plays a key role in disease development since changes in flow intensity and direction could stimulate an atheroprone or atheroprotective phenotype. ECs under low or oscillatory SS (LSS) show upregulation of inflammatory, adhesion, and cellular permeability molecules.

Elevated High-Sensitivity Troponin I in the Stabilized Phase after an Acute Coronary Syndrome Predicts All-Cause and Cardiovascular Mortality in a Highly Admixed Population: A 7-Year Cohort.

Background: High-sensitivity cardiac troponin I (hs-cTnI) has played an important role in the risk stratification of patients during the in-hospital phase of acute coronary syndrome (ACS), but few studies have determined its role as a long-term prognostic marker in the outpatient setting.

Objective: To investigate the association between levels of hs-cTnI measured in the subacute phase after an ACS event and long-term prognosis in a highly admixed population.

Methods: We measured levels of hs-cTnI in 525 patients 25 to 90 days after admission for an ACS event; these patients were then divided into tertiles according to hs-cTnI levels and followed for up to 7 years.

Protein disulfide isomerase plasma levels in healthy humans reveal proteomic signatures involved in contrasting endothelial phenotypes.

Redox-related plasma proteins are candidate reporters of protein signatures associated with endothelial structure/function. Thiol-proteins from protein disulfide isomerase (PDI) family are unexplored in this context. Here, we investigate the occurrence and physiological significance of a circulating pool of PDI in healthy humans.

Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes.

In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes.

Angiotensin-Converting Enzyme ID Polymorphism in Patients with Heart Failure Secondary to Chagas Disease.

Background: Changes in the angiotensin-converting enzyme (ACE) gene may contribute to the increase in blood pressure and consequently to the onset of heart failure (HF). The role of polymorphism is very controversial, and its identification in patients with HF secondary to Chagas disease in the Brazilian population is required.

Objective: To determine ACE polymorphism in patients with HF secondary to Chagas disease and patients with Chagas disease without systolic dysfunction, and to evaluate the relationship of the ACE polymorphism with different clinical variables.