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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, 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, From meal to malfunction: exploring molecular pathways, biomarkers and interventions in postprandial cardiometabolic health(Frontiers Media SA, 2025-10-29); Daniel Simancas-RacinesCardiometabolic diseases—including type 2 diabetes, cardiovascular disease, and metabolic dysfunction–associated steatotic liver disease—are increasingly driven by near-continuous after-meal exposure to glucose and lipid surges that traditional fasting tests often miss. This review prioritizes human studies from 2020 to 2025 and uses earlier work only as foundational anchors; non-English reports were excluded and preclinical findings are cited solely for mechanistic context. Evidence converges on six processes that amplify risk within hours after eating: impaired insulin signaling, delayed clearance of dietary lipids, mitochondrial and oxidative stress, loss of endothelial nitric oxide, inflammasome-mediated inflammation, and microbiome–hormone interactions. Dynamic, after-meal markers and simple composites such as the triglyceride–glucose index outperform fasting measures for identifying risk and guiding care. Practical strategies to shorten the “damage window” include Mediterranean-style meals with low glycemic index swaps and unsaturated fats, earlier distribution of daily energy and early time-restricted eating, a small pre-meal protein portion, and brief post-meal walking. Fast-acting medicines—glucagon-like peptide 1 and glucose-dependent insulinotropic polypeptide receptor agonists, rapid-acting insulin analogues, sodium–glucose cotransporter 2 inhibitors taken before meals, and proprotein convertase subtilisin/kexin type 9 inhibitors—further blunt peaks, while continuous glucose monitoring with algorithmic feedback enables timing-aware, person-specific adjustments. A tiered workflow—screen, stratify, and personalize—reframes prevention and treatment around after-meal physiology, with particular relevance to settings where resources are limited. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Redefining Chemoresistance: Natural Bioactives as Molecular Modulators at the Cancer–Tumor Microenvironment Interface(MDPI AG, 2025-08-20); ; Therapeutic resistance remains a critical barrier in effective cancer treatment, contributing to disease recurrence, progression, and reduced patient survival. In recent years, natural bioactive compounds have emerged as promising adjuncts in oncology due to their ability to modulate multiple biological processes involved in resistance. This review explores current evidence on the role of natural compounds in influencing cancer cell behavior and their interactions with the tumor microenvironment. By organizing these compounds into chemical families, we provide a structured overview of their potential to enhance the efficacy of standard chemotherapy and reduce resistance-related mechanisms. We also highlight innovative strategies, including combination therapies and advanced drug delivery systems, that aim to improve their clinical applicability. Overall, this work underscores the relevance of integrating natural bioactives into modern cancer therapy and calls for further translational research to bridge preclinical findings with clinical implementation. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Oesophageal adenocarcinoma, obesity, and cancer: the role of nutrition in prevention and management(Informa UK Limited, 2025-05-29); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Preventing and Managing Pre- and Postoperative Micronutrient Deficiencies: A Vital Component of Long-Term Success in Bariatric Surgery(MDPI AG, 2025-02-20); ; ; Raynier Zambrano-VillacresBariatric surgery (BS) is an effective treatment for severe obesity and its related comorbidities, such as type 2 diabetes and hypertension. However, the anatomical and physiological changes associated with these procedures significantly increase the risk of preoperative and postoperative micronutrient deficiencies, which can lead to severe complications such as anemia, osteoporosis, and neurological disorders. This narrative review examines the prevalence and clinical implications of micronutrient deficiencies in BS patients, as well as evidence-based strategies for their prevention and management. The most common deficiencies include iron, vitamin B12, folate, calcium, vitamin D, and fat-soluble vitamins (A, E, and K). Procedures with a hypoabsorptive component, such as Roux-en-Y gastric bypass (RYGB) and biliopancreatic diversion with duodenal switch (BPD/DS), pose higher risks of deficiencies compared to restrictive procedures like sleeve gastrectomy (SG). Effective strategies involve the preoperative correction of deficiencies, continuous monitoring, and tailored supplementation. However, long-term adherence to supplementation tends to decrease over time, influenced by behavioral and socioeconomic factors. Hence, preventing and managing micronutrient deficiencies are crucial for the long-term success of BS. While current guidelines provide valuable recommendations, many are based on low-certainty evidence, underscoring the need for more robust studies. A multidisciplinary approach, combined with innovative strategies, such as telemedicine, can enhance adherence and achieve sustainable clinical outcomes. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Preoperative Nutrition in Bariatric Surgery: A Narrative Review on Enhancing Surgical Success and Patient Outcomes(MDPI AG, 2025-02-02); ; Raynier Zambrano-VillacresBariatric surgery has become the preferred treatment for individuals with morbid obesity. Nutrition is key in optimizing surgical outcomes by reducing risks and enhancing recovery. Preoperative strategies, such as reducing body fat, decreasing liver size, and improving metabolic profiles, have been shown to facilitate safer surgical procedures with fewer complications. This narrative review aims to provide an analysis of the fundamental role of preoperative nutritional management in improving bariatric surgery outcomes, emphasizing the importance of addressing specific nutritional challenges to enhance surgical safety, recovery, and overall health. Preoperative nutritional interventions focus on correcting comorbidities and nutritional deficiencies, particularly hypovitaminosis and micronutrient imbalances, through a multidisciplinary approach involving nutritionists and other healthcare professionals. These interventions not only prepare patients for the physiological demands of surgery but also initiate a period of adaptation to new dietary habits, aiming to improve long-term compliance and mitigate risks such as postoperative weight regain and dumping syndrome. Adopting dietary changes, such as very low-calorie or ketogenic diets 6–12 weeks before surgery, enhances adherence to postoperative restrictions and overall surgical success. Future research should focus on developing comprehensive guidelines for preoperative nutritional care to improve patient outcomes globally.