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Item type:Publication, Molecular Mechanisms and Therapeutic Perspectives of Gut Microbiota, Autophagy, and Apoptosis in Cholangiocarcinoma PathophysiologyCholangiocarcinoma (CCA) is an aggressive malignancy of the biliary tract with rising global incidence and limited treatment options. Its pathogenesis involves a complex interplay of genetic mutations, epigenetic dysregulation, inflammatory signaling, and environmental influences. Emerging evidence highlights the pivotal role of the gut–liver axis and microbiota dysbiosis in shaping biliary homeostasis and disease progression. Alterations in microbial composition disrupt apoptosis and autophagy, two key processes regulating cell survival and death, thereby contributing to tumorigenesis, metastasis, and therapy resistance. Specific taxa, including Enterococcus, Escherichia coli, Pseudomonas, Bifidobacterium, and Bacillus, demonstrate strain-dependent effects, acting either as tumor promoters through genotoxic metabolites and immune evasion or as potential tumor suppressors by inducing apoptosis and immune activation. These findings underscore the context-dependent roles of microbiota in CCA biology. Importantly, microbiota modulation offers novel therapeutic opportunities. Dietary interventions such as probiotics, prebiotics, and nutritional strategies, alongside innovative microbiome-targeted therapies, hold promise for restoring microbial balance, enhancing antitumor immunity, and improving patient outcomes. This review integrates current molecular and microbiological evidence to propose the gut microbiota as both a biomarker and a therapeutic target in CCA, opening avenues for precision medicine approaches in hepatobiliary oncology - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Available evidence on integrating COVID-19 into sentinel surveillance systems: A scoping review(Medwave Estudios Limitada, 2025-10-20); Daniel Simancas-RacinesIntroduction The COVID-19 pandemic exposed the weaknesses of epidemiological surveillance systems and highlighted the need to integrate new respiratory viruses into sentinel surveillance systems. However, current evidence on their effectiveness remains limited. Aim This project conducts a scoping review to describe the available evidence on the integration of COVID-19 into sentinel surveillance systems. Methods The included studies addressed sentinel surveillance in the context of the pandemic following the World Health Organization declaration. A systematic search was performed in databases including MEDLINE, LILACS, EPISTEMONIKOS, and DIMENSIONS, selecting observational studies and systematic reviews. Data collection and analysis were organized into categories such as clinical characteristics, timely detection, geographic representativeness, co-infection, and adaptability with genomic surveillance. Seventeen studies reporting on COVID-19 integration impact and one preliminary WHO report were identified. Results Results identified the most prevalent symptoms in the general population: fever (73%), cough (51.8%), loss of taste or smell (45.1%), hypoxemia (33%), and sputum production (23.9%). A high correlation was obtained between SARI cases or hospitalizations due to respiratory infection and the incidence of COVID-19 (ρ = 0.78 and ρ = 0.82 respectively). Conclusions Integrating COVID-19 into the sentinel surveillance system could improve detection, response, and follow-up capacity. Additionally, implementing standardized case definitions promotes more efficient use of laboratory resources, thereby enhancing the sustainability of the surveillance system. - 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, Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient(Frontiers Media SA, 2026-02-18) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series(Medwave Estudios Limitada, 2026-01-14) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk(Frontiers Media SA, 2026-01-21); ; ; ; Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification. 2026 Paz-Cruz, Guevara-Ramírez, Tamayo-Trujillo, Ruiz-Pozo, Cadena-Ullauri, Ibarra-Castillo, Laso-Bayas, Meza-Chico, Cabrera-Andrade and Zambrano. - Some of the metrics are blocked by yourconsent settings
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, Spectrum and Clinical Interpretation of TTN Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic VariantsThis study described TTN gene variants in Ecuadorian patients with hereditary cardiac diseases, integrating genetic ancestry to improve variant interpretation in an underrepresented population. Sixty patients with confirmed hereditary cardiac conditions were analyzed using the TruSight Cardio NGS panel (Illumina, San Diego, CA, USA), which targets 174 cardiac-associated genes. Bioinformatic analyses and classification were performed in accordance with ACMG/AMP guidelines, and ancestry inference was conducted using 46 Ancestry Informative Markers (AIM-InDels). From 4008 detected TTN variants, 29 variants of interest remained after filtering: 27 classified as variants of uncertain significance (VUS) and two as likely pathogenic. All variants were heterozygous and distributed across exons 3–358, primarily in the A-band region, commonly associated with cardiomyopathies and arrhythmic phenotypes. Two truncating variants (exons 267 and 272) met PVS1 criteria, while several missense variants (p.Ser91Gly, p.Pro12140Ser, p.Arg34653Cys) showed possible modulatory effects on hypertrophic or arrhythmic outcomes. Genetic ancestry revealed a predominant Native American background, followed by European and African components. These findings expand the understanding of TTN-related cardiac disease in Latin America, suggesting that TTN functions as a genetic modifier influencing disease expression. Incorporating ancestry information enhances genomic interpretation and supports precision medicine in diverse populations. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The genomic bases of atrial fibrillation in an Ecuadorian patient: a case report(Frontiers Media SA, 2025-06-23); ; ; Atrial fibrillation (AF) is one of the most globally prevalent arrhythmias with multifactorial factors, including environmental and genetic predisposition influences. The present case report describes a 30-year-old Ecuadorian mestizo male diagnosed with persistent AF with an history of hyperthyroidism, later progressing to hypothyroidism post-radioactive iodine therapy. Genomic test identified variants of uncertain significance in the TTN, MYH11, and RAF1 genes, which are associated with cardiovascular diseases but not directly linked to AF. The interplay between thyrotoxicosis and genetic predispositions is discussed as a potential mechanism underlying AF development. This report emphasizes the need for genomic screening and personalized strategies in populations like Ecuador with complex genetic and environmental backgrounds. 2025 Tamayo-Trujillo, Guevara-Ramirez, Meza-Chico, Cadena-Ullauri, Ruiz-Pozo, Paz-Cruz, Laso-Bayas, Ibarra-Castillo and Zambrano. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Microbiota dysbiosis impact on the metabolism of T3 and T4 hormones and its association with thyroid cancer(Frontiers Media SA, 2025-06-02)
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