CRIS

Permanent URI for this communityhttps://cris.ute.edu.ec/handle/123456789/1

Browse

Settings

Has files: YesSubject: search.filters.subject.precision medicine

Search Results

Now showing 1 - 4 of 4
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Decoding Breast Cancer: Emerging Molecular Biomarkers and Novel Therapeutic Targets for Precision Medicine
    (MDPI AG, 2025-12-22)
    Dámaris P. Intriago-Baldeón
    ;
    Eduarda Sofía Pérez-Coral
    ;
    Martina Isabella Armas Samaniego
    ;
    Vanessa I. Romero
    ;
    Juan Carlos Pozo Palacios
    Breast cancer is the most frequent gynecological malignancy and the main cause of cancer death in the female population worldwide. One of the most significant challenges in its clinical management is the molecular heterogeneity of malignant breast tumors, which is reflected in the current molecular classification of these entities. In each of these tumor molecular subtypes, distinct genetic alterations are involved, and several intracellular signaling pathways contribute to defining their biological identity and clinical response. This literature review summarized the main classic and emerging biomarkers in breast cancer, along with the therapies associated with them. There are several classic biomarkers associated with this disease, such as estrogen and progesterone receptors, the HER2 receptor, and the Ki-67 cell proliferation marker. Given the limitations of these biomarkers, new biomarkers have been identified, including the TP53 tumor suppressor gene, the EGFR, different types of RNAs, plus epigenetic and immunological biomarkers. The integration of classic and emerging biomarkers along with new therapeutic targets in the clinical practice has promoted a thorough understanding of the high molecular complexity of breast cancer and the development of precision medicine strategies which increase the chances of therapeutic success.
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Endometriosis as a Systemic and Complex Disease: Toward Phenotype-Based Classification and Personalized Therapy
    (MDPI AG, 2026-01-16)
    Daniel Simancas-Racines
    ;
    Emilia Jiménez Flores
    ;
    Martha Montalvan
    ;
    Raquel Horowitz
    ;
    Valeria Araujo
    Endometriosis is traditionally conceptualized as a pelvic lesion–centered disease; however, mounting evidence indicates it is a chronic, systemic, and multifactorial inflammatory disorder. This review examines the molecular dialog between ectopic endometrial tissue, the immune system, and peripheral organs, highlighting mechanisms that underlie disease chronicity, symptom variability, and therapeutic resistance. Ectopic endometrium exhibits distinct transcriptomic and epigenetic signatures, disrupted hormonal signaling, and a pro-inflammatory microenvironment characterized by inflammatory mediators, prostaglandins, and matrix metalloproteinases. Immune-endometrial crosstalk fosters immune evasion through altered cytokine profiles, extracellular vesicles, immune checkpoint molecules, and immunomodulatory microRNAs, enabling lesion persistence. Beyond the pelvis, systemic low-grade inflammation, circulating cytokines, and microRNAs reflect a molecular spillover that contributes to chronic pain, fatigue, hypothalamic–pituitary–adrenal axis dysregulation, and emerging gut–endometrium interactions. Furthermore, circulating biomarkers—including microRNAs, lncRNAs, extracellular vesicles, and proteomic signatures—offer potential for early diagnosis, patient stratification, and monitoring of therapeutic responses. Conventional hormonal therapies demonstrate limited efficacy, whereas novel molecular targets and delivery systems, including angiogenesis inhibitors, immune modulators, epigenetic regulators, and nanotherapeutics, show promise for precision intervention. A systems medicine framework, integrating multi-omics analyses and network-based approaches, supports reconceptualizing endometriosis as a systemic inflammatory condition with gynecologic manifestations. This perspective emphasizes the need for interdisciplinary collaboration to advance diagnostics, therapeutics, and individualized patient care, ultimately moving beyond a lesion-centered paradigm toward a molecularly informed, holistic understanding of endometriosis.
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    Spectrum and Clinical Interpretation of TTN Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic Variants
    (MDPI AG, 2025-12-10)
    GUEVARA RAMÍREZ, ALEXANDRA PATRICIA  
    ;
    CADENA ULLAURI, SANTIAGO ANDRÉ  
    ;
    TAMAYO TRUJILLO, VICTOR RAFAEL  
    ;
    RUIZ POZO, VIVIANA ALEJANDRA  
    ;
    PAZ CRUZ, ELIUS ANDRES  
    This 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.
  • Loading...
    Thumbnail Image
    Some of the metrics are blocked by your 
    consent settings
    Item type:Publication,
    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.