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    Mechanistic Links Between Gut Dysbiosis, Insulin Resistance, and Autism Spectrum Disorder
    Autism spectrum disorder (ASD) is a neurodevelopmental condition frequently associated with gastrointestinal symptoms, gut dysbiosis, and metabolic dysfunctions such as insulin resistance (IR). Recent evidence suggests that the gut microbiota may influence both metabolic and neurological processes through the gut–brain–metabolic axis. This review explores the molecular mechanisms linking dysbiosis, IR, and ASD, focusing on pathways such as TLR/NF-κB activation, PI3K/Akt/mTOR disruption, and the action of microbial metabolites, like short-chain fatty acids (SCFAs), lipopolysaccharide (LPS), and γ-aminobutyric acid (GABA). We discuss how dysbiosis may contribute to increased intestinal permeability, systemic inflammation, and neuroimmune activation, ultimately affecting brain development and behavior. Common microbial alterations in ASD and IR—including increased Clostridium, Desulfovibrio, and Alistipes, and reduced Bifidobacterium and butyrate-producing genera—suggest a shared pathophysiology. We also highlight potential therapeutic strategies, such as microbiota modulation, insulin-like growth factor 1 (IGF-1) treatment, and dietary interventions. Understanding these interconnected mechanisms may support the development of microbiota-targeted approaches for individuals with ASD metabolic comorbidities.
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    The three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data
    (Springer Science and Business Media LLC, 2019-06-25) ;
    Aníbal Gaviria
    ;
    Santiago Cobos-Navarrete
    ;
    Carmen Gruezo
    ;
    Cristina Rodríguez-Pollit
    <jats:title>Abstract</jats:title><jats:p>The history of Ecuador was marked by the arrival of Europeans with Africans, resulting in the mixture of Native Americans with Africans and Europeans. The present study contributes to the knowledge of the Ecuadorian mestizo population by offering information about ancestry and ethnic heterogeneity. Forty-six AIM-InDels (Ancestry Informative Insertion/Deletion Markers) were used to obtain information on 240 Ecuadorian individuals from three regions (Amazonia, the Highlands, and the Coast). As a result, the population involved a significant contribution from Native Americans (values up to 51%), followed by Europeans (values up to 33%) and Africans (values up to 13%). Furthermore, we compared the data obtained with nine previously reported scientific articles on autosomal, mitochondrial DNA and Y chromosomes. The admixture results correspond to Ecuador’s historical background and vary slightly between regions.</jats:p>
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    Thyroid cancer in Ecuador: A genetic variants review and a cross-sectional population-based analysis before and after COVID-19 pandemic
    Objectives: The purpose of this study is to describe the genetic variants present in the Ecuadorian population and the incidence and mortality patterns of thyroid cancer in Ecuador from 2016 to 2021. Methods: The present research constitutes a nationwide cross-sectional study encompassing all reported cases of thyroid cancer (C-73) in Ecuador from 2016 to 2021. Incidence rates were calculated based on the annual population at risk, considering factors such as ethnicity, sex, age group, and the geographic location of the incidence. All data was collected from the Hospital Discharge Statistics and the Statistical Registry of General Deaths Databases. Results: Between 2016 and 2021, a total of 20,297 hospital admissions and 921 deaths attributed to thyroid cancer were reported in Ecuador. The incidence of thyroid cancer remained relatively stable from 2016 to 2019. However, there was a notable decrease in 2020, followed by an increase in 2021. Notably, thyroid cancer prevalence rates were found to be higher in highlands regions. Moreover, two genetic variants, the BRAFV600E and KITL678F, have been identified in the Ecuadorian population. It is noteworthy that women exhibited a higher susceptibility to thyroid cancer, being five times more likely than men to develop this condition. Conclusion: Ecuador exhibits one of the highest global incidences of thyroid cancer. Consequently, describing the genetic variants and epidemiological characteristics of thyroid cancer is imperative for enhancing healthcare access and formulating evidence-based public health policies. This research contributes towards a comprehensive understanding of thyroid cancer in the Ecuadorian context, aiming to improve targeted interventions and health outcomes.
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    Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant
    (Springer Science and Business Media LLC, 2024-07-27) ; ;
    Rita Ibarra-Castillo
    ;
    José Luis Laso-Bayas
    ;
    Background: Ion channels, vital transmembrane protein complexes, regulate ion movement within cells. Germline variants in channel-encoding genes lead to channelopathies. The sodium channels in cardiac cells exhibit a structure of an alpha subunit and one to two beta subunits. The alpha subunit, encoded by the SCN5A gene, comprises four domains. Case presentation: A fifteen-year-old Ecuadorian female with atrial flutter and abnormal sinus rhythm with no familial history of cardiovascular disease underwent NGS with the TruSight Cardio kit (Illumina). A likely pathogenic SCN5A gene variant (NM_188056.2:c.2677 C > Tp. Arg893Cys) was identified, associated with arrhythmias, long QT, atrial fibrillation, and Brugada syndrome. Ancestral analysis revealed a predominant European component (43.9%), followed by Native American (35.7%) and African (20.4%) components. Conclusions: The participant presents atrial flutter and conduction disorders, despite lacking typical cardiovascular risk factors. The proband carries a SCN5A variant that has not been previously reported in Latin America and may be associated to her phenotype. The documented arginine-to-cysteine substitution at position 893 in the protein is crucial for various cellular functions. The subject’s mixed genetic composition highlights potential genetic contributors to atrial flutter, emphasizing the need for comprehensive genetic studies, particularly in mixed populations like Ecuadorians. This case underscores the importance of genetic analysis for personalized treatment and the significance of studying diverse genetic backgrounds in understanding cardiovascular diseases.
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    Interplay between endogenous hormones and immune systems in human metapneumovirus pathogenesis and management
    The present review explores the role of endogenous hormones, such as cortisol, melatonin, thyroid hormones, sex hormones, and insulin, in the modulation of the immune response to a human metapneumovirus (hMPV) infection. hMPV is a respiratory pathogen responsible for severe infections, particularly in vulnerable populations like children and the elderly. The virus triggers inflammatory responses through various molecular processes, including cytokine production and immune signaling pathways. Notably, these processes can be influenced by endocrine factors, such as hormones. Cortisol, through hypothalamic-pituitary-adrenal (HPA) axis activation, modulates inflammation but may contribute to immunosuppression. Melatonin inhibits the NLRP3 inflammasome, reducing lung inflammation. Thyroid hormones regulate immune responses via nuclear factor kappa B (NF-κB) and JAK/STAT pathways, while hypothyroidism may alter infection severity. Sex hormones, particularly estrogens, enhance antiviral immunity, whereas androgens may have variable effects on immune modulation. Insulin influences inflammation through NF-κB suppression, with insulin resistance potentially worsening viral pathogenesis. Therapeutic implications suggest that modulating these hormonal pathways could aid in hMPV management. Strategies such as hormone therapy, glucocorticoid regulation, and nanoparticle-based drug delivery are potential routes of intervention. The aim of the present review is to understand the complex interplay between endogenous hormones and the immune system during an hMPV infection by describing the complex molecular mechanisms associated with these processes.
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    Microbiota dysbiosis impact on the metabolism of T3 and T4 hormones and its association with thyroid cancer
    (Frontiers Media SA, 2025-06-02)
    Santiago Cadena-Ullauri
    ;
    Patricia Guevara-Ramírez
    ;
    Elius Paz-Cruz
    ;
    Viviana A. Ruiz-Pozo
    ;
    Rafael Tamayo-Trujillo
    This review explores the impact of gut microbiota dysbiosis on thyroid hormone metabolism and its potential association with thyroid cancer. The analysis highlights specific bacterial genera linked to thyroid dysfunction, the role of gut microbiota in iodine absorption, and mechanisms connecting dysbiosis with thyroid disorders such as hypothyroidism, hyperthyroidism, Hashimoto’s thyroiditis, and Graves’ disease. Additionally, it examines the potential of gut microbiota as a biomarker for diagnosis and personalized treatment, as well as the prospect of probiotics and microbiota-targeted treatments. The review emphasizes the importance of conducting additional research to fully understand microbiota-thyroid interactions and develop appropriate therapies to improve clinical outcomes and patient quality of life.
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    Mitochondrial DNA study in the Shuar ethnic group from Ecuador
    (Elsevier BV, 2019-12)
    P.E. Leone
    ;
    D. Maldonado-Oyervide
    ;
    O. Astudillo-González
    ;
    A. Pérez-Villa
    ;
    V. Yumiceba
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    Available evidence on integrating COVID-19 into sentinel surveillance systems: A scoping review
    (Medwave Estudios Limitada, 2025-10-20)
    Jorge Gualotuña-Suntaxi
    ;
    Diana Pérez-Muñoz
    ;
    Raynier Zambrano-Villacres
    ;
    ;
    Daniel Simancas-Racines
    Introduction 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.