PAZ Y MIÑO CEPEDA, CÉSAR ANTONIO

Preferred name
PAZ Y MIÑO CEPEDA, CÉSAR ANTONIO
Main Affiliation
SF
ORCID
0000-0002-6693-7344
Scopus Author ID
57196263036

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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)
    ZAMBRANO ESPINOSA, ANA KARINA  
    ;
    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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    Understanding Celiac Disease From Genetics to the Future Diagnostic Strategies
    (SAGE Publications, 2017-01-01)
    Carolina Salazar
    ;
    Jennyfer M García-Cárdenas
    ;
    PAZ Y MIÑO CEPEDA, CESAR ANTONIO  
    <jats:p> Celiac disease (CD) is an autoimmune disorder characterized by the permanent inflammation of the small bowel, triggered by the ingestion of gluten. It is associated with a number of symptoms, the most common being gastrointestinal. The prevalence of this illness worldwide is 1%. One of the main problems of CD is its difficulty to be diagnosed due to the various presentations of the disease. Besides, in many cases, CD is asymptomatic. Celiac disease is a multifactorial disease, HLA-DQ2 and HLA-DQ8 haplotypes are predisposition factors. Nowadays, molecular markers are being studied as diagnostic tools. In this review, we explore CD from its basic concept, manifestations, types, current and future methods of diagnosis, and associated disorders. Before addressing the therapeutic approaches, we also provide a brief overview of CD genetics and treatment. </jats:p>
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    Breast Cancer Risk Associated with Genotype Polymorphisms of the Aurora Kinase a Gene (AURKA): a Case-Control Study in a High Altitude Ecuadorian Mestizo Population
    (Springer Science and Business Media LLC, 2017-06-24)
    Andrés López-Cortés
    ;
    Alejandro Cabrera-Andrade
    ;
    Fabián Oña-Cisneros
    ;
    Felipe Rosales
    ;
    Malena Ortiz
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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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    Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR
    (Hindawi Limited, 2020-06-02)
    PAZ Y MIÑO CEPEDA, CESAR ANTONIO  
    ;
    ZAMBRANO ESPINOSA, ANA KARINA  
    ;
    Juan Carlos Ruiz-Cabezas
    ;
    Isaac Armendáriz-Castillo
    ;
    Jennyfer M. García-Cárdenas
    <jats:p>The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [<jats:italic>c.757G&gt;A:p.Gly253Arg</jats:italic>; <jats:italic>c.1352G&gt;T:p.Gly451Val</jats:italic>] who had the highest European composition.</jats:p>
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    A quick guide for using Microsoft OneNote as an electronic laboratory notebook
    (Public Library of Science (PLoS), 2019-05-09)
    Santiago Guerrero
    ;
    Andrés López-Cortés
    ;
    Jennyfer M. García-Cárdenas
    ;
    SAA PORTILLA, PABLO ANDRES  
    ;
    Alberto Indacochea
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    Genotoxic and Carcinogenic Potential of Compounds Associated with Electronic Cigarettes: A Systematic Review
    (Hindawi Limited, 2019-12-23)
    Isaac Armendáriz-Castillo
    ;
    Santiago Guerrero
    ;
    Antonella Vera-Guapi
    ;
    Tiffany Cevallos-Vilatuña
    ;
    Jennyfer M. García-Cárdenas
    <jats:p><jats:italic>Background.</jats:italic> Many studies, comparing the health associated risks of electronic cigarettes with conventional cigarettes focus mainly on the common chemical compounds found between them. <jats:italic>Aim.</jats:italic> Review chemical compounds found exclusively in electronic cigarettes and describe their toxic effects, focusing on electronic-cigarette-only and dual electronic-cigarette and conventional cigarette users. <jats:italic>Data Sources.</jats:italic> Literature search was carried out using PubMed. <jats:italic>Study Eligibility Criteria.</jats:italic> Articles related exclusively to conventional and electronic cigarettes’ chemical composition. Articles which reported to be financed from tobacco or electronic cigarettes industries, not reporting source of funding, not related to the chemical composition of electronic and conventional cigarettes and not relevant to tobacco research were excluded. <jats:italic>Methods and Results.</jats:italic> Chemical compounds reported in the selected studies were tabulated using the Chemical Abstracts Service registry number for chemical substances information. A total of 50 chemical compounds were exclusively reported to be present in electronic cigarettes. Crucial health risks identified were: eye, skin, and respiratory tract irritation, with almost 50% of incidence, an increment of 10% in cytotoxic effects, when compared to compounds in common with conventional cigarettes and around 11% of compounds with unknown effects to human health. <jats:italic>Limitations.</jats:italic> Articles reporting conflicts of interest. <jats:italic>Conclusions and Implications of Key Findings.</jats:italic> Despite being considered as less harmful for human health, compounds found in electronic cigarettes are still a matter of research and their effects on health are yet unknown. The use of these devices is not recommended for first time users and it is considered hazardous for dual users.</jats:p>
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    Study of the Huntington's disease IT-15 gene in different ethnic groups in Ecuador
    (Wiley, 2017-08-17)
    PAZ Y MIÑO CEPEDA, CESAR ANTONIO  
    ;
    V.H. Pavón‐Realpe
    ;
    C. Salazar‐Ruales
    ;
    J.M. García-Cárdenas
    ;
    A. Cabrera-Andrade
    <jats:p>This study aims to establish the current state of the <jats:italic><jats:styled-content style="fixed-case">IT</jats:styled-content>‐15</jats:italic> (<jats:italic><jats:styled-content style="fixed-case">HTT</jats:styled-content></jats:italic>) gene in different Ecuadorian ethnic groups and patients by determining <jats:styled-content style="fixed-case">CAG</jats:styled-content> triplet repeats, compared with the ethnicity of individuals. A total of 412 individuals were studied using nested polymerase chain reaction and Sanger sequencing: 75 individuals were indigenous (Kichwas), 211 mestizos, and 65 Afro‐Ecuadorians. We included 31 patients who were clinically diagnosed with Huntington's disease (HD) and relatives of the affected patients (<jats:italic>n</jats:italic> = 30). Moreover, we correlated the presence of HD in Ecuadorian patients with 46 genetic ancestry‐informative insertion‐deletion polymorphic markers. We found that 77.20% had &lt;28 <jats:styled-content style="fixed-case">CAG</jats:styled-content> repetitions, 18.80% had mutable alleles, 2.27% had incomplete penetrance, and 1.70% reflected &gt;39 repetitions. The average of <jats:styled-content style="fixed-case">CAG</jats:styled-content> repetitions was 24 ± 3 for indigenous people; 28 ± 2 for mestizos; and 24 ± 3.2 repetitions for the Afro‐Ecuadorians. The ancestral component showed that the main ancestry corresponded to Native Americans (0.873) and European ascendants (0.145), Africans were less represented in the evaluated population (0.018). There was a significant difference between the number of <jats:styled-content style="fixed-case">CAG</jats:styled-content> repeats in mestizos and indigenous people (<jats:italic>P</jats:italic> &lt; .01), suggesting that the Ecuadorian mestizo population has a risk factor for the gene mutation.</jats:p>