TAMAYO TRUJILLO, VICTOR RAFAEL
Preferred name
TAMAYO TRUJILLO, VICTOR RAFAEL
Main Affiliation
CIGG - Centro de Investigación Genética y Genómica
Web Site
ORCID
0000-0001-9059-3281
Scopus Author ID
57194450790
39 results
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Item type:Publication, Molecular mechanisms of semaglutide and liraglutide as a therapeutic option for obesity(Frontiers Media SA, 2024-04-29); ; ; Obesity, a chronic global health problem, is associated with an increase in various comorbidities, such as cardiovascular disease, type 2 diabetes mellitus, hypertension, and certain types of cancer. The increasing global prevalence of obesity requires research into new therapeutic strategies. Glucagon-like peptide-1 receptor agonists, specifically semaglutide and liraglutide, designed for type 2 diabetes mellitus treatment, have been explored as drugs for the treatment of obesity. This minireview describes the molecular mechanisms of semaglutide and liraglutide in different metabolic pathways, and its mechanism of action in processes such as appetite regulation, insulin secretion, glucose homeostasis, energy expenditure, and lipid metabolism. Finally, several clinical trial outcomes are described to show the safety and efficacy of these drugs in obesity management. - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, Population Admixture and APOB Variant Landscape in Ecuadorian Mestizo Patients with Cardiac Diseases: Potential Implications for Familial Hypercholesterolemia GeneticsApolipoprotein B (APOB) is a key structural component of atherogenic lipoproteins and one of the principal genes implicated in familial hypercholesterolemia (FH). However, APOB genetic variation remains poorly characterized in Latin American and admixed populations. In this study, we performed a descriptive analysis of APOB variants in 60 Ecuadorian mestizo patients with inherited cardiac conditions using next-generation sequencing (NGS) and genetic ancestry inference. A total of 227 APOB variants were identified, the majority of which were classified as benign (n = 220) or likely benign (n = 3) according to ACMG criteria, while three variants were classified as variants of uncertain significance (VUS). The most frequently observed variants included rs1042034, rs679899, rs676210, and rs1367117. Comparative allele-frequency analyses using ALFA and PAGE Latin American reference datasets demonstrated that the APOB variant frequencies observed in the cohort were comparable to those reported in other Latin American populations, reflecting the admixed genetic background of Ecuadorian mestizos, predominantly of Native American and European ancestry. No pathogenic APOB variants were detected. Although lipid measurements were not available and genotype–phenotype associations could not be assessed, this study provides the first comprehensive overview of APOB variation in Ecuadorian mestizo individuals. These findings expand population-specific genomic data for an underrepresented group and underscore the importance of regional reference datasets for accurate variant interpretation in admixed populations. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual(Elmer Press, Inc., 2023-10); ; ; Jose Luis Laso-Bayas - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk(Frontiers Media SA, 2026-02-12); ; ; ; Long QT syndrome (LQTS) is a hereditary cardiac channelopathy associated with delayed ventricular repolarization and increased risk of life-threatening arrhythmias and sudden cardiac death. We report three Ecuadorian patients with LQTS, each presenting distinct clinical features and carrying pathogenic or likely pathogenic variants in KCNH2 or KCNQ1. Subject A, an 18-year-old woman with exertion-related syncope and a QTc of 520 ms, was diagnosed with LQT2 due to a KCNH2 p.Ala614Val variant. Subject B, a 3-year-old girl with congenital deafness and a QTc of 580 ms, was diagnosed with Jervell and Lange-Nielsen syndrome (JLNS), harboring a homozygous KCNQ1 p.Arg192Cys variant. Subject C, a 44-year-old man with recurrent syncope misdiagnosed as epilepsy and a strong family history of sudden death, was found to carry a KCNH2 p.Val612Met variant and had a QTc of 600 ms. All variants were classified according to ACMG/AMP guidelines and supported by in silico and functional data. Ancestry analysis provided additional genomic context in this admixed population. These cases underscore the clinical utility of integrating ECG findings, genetic testing, and ancestry-informed interpretation to improve diagnostic accuracy and personalize management in patients with inherited arrhythmia syndromes. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic diet interactions of ACE: the increased hypertension predisposition in the Latin American population(Frontiers Media SA, 2023-10-26); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The Molecular Mechanisms of the Relationship between Insulin Resistance and Parkinson’s Disease Pathogenesis(MDPI AG, 2023-08-15); ; ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian WomenThyroid cancer (TC) is the most common endocrine malignancy, with a rising global incidence. In Ecuador, TC rates are among the highest worldwide. Generally, fine-needle aspiration (FNA) remains the standard diagnostic tool; however, due to its limitations, alternative or complementary approaches are required. In this context, liquid biopsy, particularly circulating tumor DNA (ctDNA), offers a promising, minimally invasive option for tumor genotyping. Objective: This study evaluated the concordance between genetic variants identified in ctDNA and tumor tissue. Thirty-six women with papillary thyroid cancer were included. Tumor tissue and blood samples were collected, and DNA was extracted. Next-Generation Sequencing (NGS) using the TruSight Tumor 15 panel identified genetic variants in both ctDNA and tumor DNA. Variant pathogenicity was assessed following ACMG guidelines. Genetic ancestry was determined using Ancestry Informative Markers (AIMs). A total of 71 cancer-associated variants were detected, with 81.69% concordance between tumor DNA and ctDNA. TP53 was the most frequently mutated gene. While most pathogenic variants were found in tumor tissue, some variants appeared exclusively in ctDNA samples on specific patients, suggesting tumor heterogeneity. Ancestry analysis revealed a predominant Native American component (62.4%). Liquid biopsy demonstrates high concordance with tumor tissue analysis and holds potential as a complementary diagnostic tool for thyroid cancer. However, challenges such as low ctDNA yield and underrepresentation in genetic databases highlight the need for improved protocols and increased inclusion of admixed populations in genomic studies. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Assessment of the COVID-19 pandemic progression in Ecuador through seroprevalence analysis of anti-SARS-CoV-2 IgG/IgM antibodies in blood donors(Frontiers Media SA, 2024-06-21); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Molecular pathways and nutrigenomic review of insulin resistance development in gestational diabetes mellitus(Frontiers Media SA, 2023-09-20); ; ; ; <jats:p>Gestational diabetes mellitus is a condition marked by raised blood sugar levels and insulin resistance that usually occurs during the second or third trimester of pregnancy. According to the World Health Organization, hyperglycemia affects 16.9% of pregnancies worldwide. Dietary changes are the primarily alternative treatment for gestational diabetes mellitus. This paper aims to perform an exhaustive overview of the interaction between diet, gene expression, and the metabolic pathways related to insulin resistance. The intake of foods rich in carbohydrates can influence the gene expression of glycolysis, as well as foods rich in fat, can disrupt the beta-oxidation and ketogenesis pathways. Furthermore, vitamins and minerals are related to inflammatory processes regulated by the TLR4/NF-κB and one carbon metabolic pathways. We indicate that diet regulated gene expression of <jats:italic>PPARα</jats:italic>, <jats:italic>NOS</jats:italic>, <jats:italic>CREB3L3</jats:italic>, <jats:italic>IRS</jats:italic>, and <jats:italic>CPT I</jats:italic>, altering cellular physiological mechanisms and thus increasing or decreasing the risk of gestational diabetes. The alteration of gene expression can cause inflammation, inhibition of fatty acid transport, or on the contrary help in the modulation of ketogenesis, improve insulin sensitivity, attenuate the effects of glucotoxicity, and others. Therefore, it is critical to comprehend the metabolic changes of pregnant women with gestational diabetes mellitus, to determine nutrients that help in the prevention and treatment of insulin resistance and its long-term consequences.</jats:p>