👤 Linda L Muñoz-Hernández

In Latin America (LATAM), the level of awareness and clinical implementation of lipoprotein(a) (Lp(a)) testing among physicians remain largely unknown. This study aimed to evaluate the knowledge, frequency of use, and clinical management practices related to Lp(a) among LATAM physicians. We conducted a cross-sectional, 36-item Spanish-language online survey using convenience sampling through medical societies in twenty LATAM countries. All items were mandatory. The questionnaire included two sections based on whether respondents requested Lp(a) testing and explored barriers among nonusers. A total of 512 physicians from various LATAM countries responded, with Mexico representing 75.4% of the participants. Overall, 36.7% of the physicians reported currently requesting Lp(a) testing, primarily in patients with premature cardiovascular diseases (CVD), familial hypercholesterolemia (FH), or recurrent events despite low-density lipoprotein (LDL-C) at goal. Among those never ordering Lp(a) testing, the main barriers were lack of availability (57.4%) and high cost (33.6%). Knowledge gaps were identified: Only half of the respondents correctly identified Lp(a) risk thresholds or LDL-C targets. Despite this, most physicians who ordered the Lp(a) test reported taking active measures such as intensifying lipid-lowering therapy (LLT) (90%) and intensifying the management of other CV risk factors (68%) if Lp(a) was > 50 mg/dL or 125 nmol/L. Awareness and clinical use of Lp(a) testing among LATAM physicians remain limited and focused on high-risk scenarios. Improving test accessibility, providing clearer clinical guidelines, and reinforcing the evidence for Lp(a) as a therapeutic target may enhance its adoption and integration into cardiovascular risk assessment across the region. Show less

The main aim was to evaluate changes in urea cycle enzymes in NAFLD patients and in two preclinical animal models mimicking this entity. Seventeen liver specimens from NAFLD patients were included for immunohistochemistry and gene expression analyses. Three-hundred-and-eighty-two biopsy-proven NAFLD patients were genotyped for rs1047891, a functional variant located in carbamoyl phosphate synthetase-1 (CPS1) gene. Two preclinical models were employed to analyse CPS1 by immunohistochemistry, a choline deficient high-fat diet model (CDA-HFD) and a high fat diet LDLr knockout model (LDLr -/-). A significant downregulation in mRNA was observed in CPS1 and ornithine transcarbamylase (OTC1) in simple steatosis and NASH-fibrosis patients versus controls. Further, age, obesity (BMI > 30 kg/m Show less

Dyslipidemia and obesity are especially prevalent in populations with Amerindian backgrounds, such as Mexican-Americans, which predispose these populations to cardiovascular disease. Here we design an approach, known as the cross-population allele screen (CPAS), which we conduct prior to a genome-wide association study (GWAS) in 19,273 Europeans and Mexicans, in order to identify Amerindian risk genes in Mexicans. Utilizing CPAS to restrict the GWAS input variants to only those differing in frequency between the two populations, we identify novel Amerindian lipid genes, receptor-related orphan receptor alpha (RORA) and salt-inducible kinase 3 (SIK3), and three loci previously unassociated with dyslipidemia or obesity. We also detect lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) harbouring specific Amerindian signatures of risk variants and haplotypes. Notably, we observe that SIK3 and one novel lipid locus underwent positive selection in Mexicans. Furthermore, after a high-fat meal, the SIK3 risk variant carriers display high triglyceride levels. These findings suggest that Amerindian-specific genetic architecture leads to a higher incidence of dyslipidemia and obesity in modern Mexicans. Show less