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Author: search.filters.author.Daniel Simancas-RacinesSubject: search.filters.subject.healthcare

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    Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
    (Medwave Estudios Limitada, 2026-01-14)
    Elius Paz-Cruz
    ;
    Patricia Guevara-Ramirez
    ;
    Arianne Llamos Paneque
    ;
    Emily Onofre
    ;
    Christian Rivas Iglesias
    INTRODUCTION Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the NF1 gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor predisposition. However, genotype-phenotype correlations remain insufficiently explored, particularly in underrepresented populations. METHODS Three unrelated Ecuadorian pediatric patients with a presumptive diagnosis of NF1 underwent detailed clinical evaluation, next-generation sequencing (NGS), using the TruSight Cancer panel, and ancestry analysis based on 46 ancestry-informative insertion-deletion (InDel) markers. Variants were classified according to ACMG/AMP guidelines using the Franklin and Variant Interpreter platforms, which incorporate in silico prediction tools to assess variant pathogenicity. RESULTS Three distinct pathogenic NF1 variants were identified: one nonsense (p.Arg1534Ter) and two missense (p.Gln20His, p.Asp1644Asn). Clinical findings included early-onset orbital plexiform neurofibroma, multiple café-au-lait macules, axillary/inguinal freckling, radial bone dysplasia, cutaneous neurofibromas, and prepubertal gynecomastia. All patients exhibited predominantly Native American ancestry. In silico analyses predicted a pathogenic classification of all variants. Early pigmentary signs, present in all cases, served as key diagnostic indicators. CONCLUSIONS This case series expands the mutational and phenotypic spectrum of NF1 in a pediatric Ecuadorian cohort. Findings underscore the diagnostic value of early pigmentary signs and highlight less commonly reported manifestations such as radial bone dysplasia and prepubertal gynecomastia. Integrating molecular diagnostics with early clinical evaluation may enable earlier and more precise diagnosis, guiding personalized management strategies. Further studies should investigate genotype-phenotype correlations and the influence of ancestry on NF1 expression.
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    From meal to malfunction: exploring molecular pathways, biomarkers and interventions in postprandial cardiometabolic health
    (Frontiers Media SA, 2025-10-29)
    Claudia Reytor-González
    ;
    Cevallos-fernández Emilia Luciana
    ;
    JÁCOME VILLACRÉS, MARÍA BELÉN  
    ;
    Daniel Simancas-Racines
    Cardiometabolic 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.
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    Obesity and breast cancer: exploring the nexus of chronic inflammation, metabolic dysregulation, and nutritional strategies
    (Informa UK Limited, 2025-06-23)
    Claudia Reytor-González
    ;
    Daniel Simancas-Racines
    ;
    Náthaly Mercedes Román-Galeano
    ;
    Martín Campuzano-Donoso
    ;
    Angelo Michele Carella
    The global prevalence of obesity has risen to epidemic proportions, posing significant health challenges across populations and contributing to increased morbidity and mortality from non-communicable diseases. Among its many consequences, obesity is now firmly established as a modifiable risk factor for breast cancer, particularly in postmenopausal women. The association between obesity and breast cancer is driven by complex and interrelated biological mechanisms, including chronic low-grade inflammation, hormonal imbalances, adipokine dysregulation, insulin resistance, and metabolic dysfunction. These factors collectively create a pro-tumorigenic environment that supports cancer initiation, progression, and recurrence. This review explores the multifaceted nexus between obesity and breast cancer, emphasizing the critical role of inflammatory, hormonal, and metabolic pathways in mediating disease risk and outcomes. Additionally, it highlights the emerging contribution of gut microbiome dysbiosis in modulating host immunity and systemic inflammation in the context of obesity. Nutritional strategies—ranging from dietary pattern modification to caloric restriction and time-restricted feeding (TRF)—are examined for their potential to reduce risk, enhance treatment efficacy, and improve survivorship in breast cancer patients.