ZAMBRANO ESPINOSA, ANA KARINA
Preferred name
ZAMBRANO ESPINOSA, ANA KARINA
Main Affiliation
CIGG - Centro de Investigación Genética y Genómica
Web Site
ORCID
0000-0003-4102-3965
Scopus Author ID
57195753150
101 results
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Item type:Publication, Obesity and Obesity-Related Thyroid Dysfunction: Any Potential Role for the Very Low-Calorie Ketogenic Diet (VLCKD)?(Springer Science and Business Media LLC, 2024-03-25)Scopus© Citations 18 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, 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); Scopus© Citations 54 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Microbiota dysbiosis impact on the metabolism of T3 and T4 hormones and its association with thyroid cancer(Frontiers Media SA, 2025-06-02)Scopus© Citations 4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Ancestry study in Ecuadorian population with multiple myeloma(Ovid Technologies (Wolters Kluwer Health), 2017)Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Exploring Atrial Fibrillation: Understanding the Complex Relation Between Lifestyle and Genetic Factors(Elmer Press, Inc., 2024-08); ; Viviana A. Ruiz-PozoCardiovascular diseases (CVDs) are the leading cause of death worldwide across diverse ethnic groups. Among these, atrial fibrillation (AF) stands as one of the most prevalent types of arrhythmias and the primary cause of stroke. Risk factors associated with AF include alcohol consumption, aging, high blood pressure, hypertension, inflammation, and genetic factors. A family history of CVD could indicate an increased risk. Consequently, genetic, and genomic testing should be performed to identify the molecular etiology of CVDs and assess at-risk patients. It is important to note that CVDs are the results of the complex interplay of genes and environmental factors, including ethnicity. In this case, the proband’s clinic story includes a history of smoking abuse for 10 years (10 cigarettes per day), obesity, hypertension, and an associated familial history. These risk factors, along with genetic variants, could trigger the early onset of AF. In recent years, genetic and genomic studies have significantly advanced our understanding of CVD etiology, given that next-generation sequencing (NGS) allows for the identification of genetic variants that could contribute to these pathologies. Furthermore, NGS facilitates early diagnosis, personalized pharmacological approaches, and identification of novel biomarkers. Thus, NGS is a valuable tool in CVD management. However, such studies are limited in Ecuador, a low- and middle-income country. Several challenges contribute to this gap, encompassing economic, infrastructural, and educational obstacles. Notably, the cost of genetic and genomic studies may also pose a barrier, restricting access to a portion of the population. In this case report, we present a 56-year-old Ecuadorian woman, who has been diagnosed with AF; however, after performing NGS no disease-associated variants were found, despite having strong clinical signs and symptoms. In summary, this case report contributes valuable insights into the complex interplay between genetic and lifestyle factors in the development and management of AF. The case report aims to underscore the potential impact of genetic variants on disease risk, even when classified as variants of uncertain significance, and the importance of an integral approach to patient care that includes genetic screening, lifestyle interventions, and tailored pharmacological treatment.Scopus© Citations 6 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic data for twenty-two autosomal STRs (PowerPlex® Fusion) from Afro-Ecuadorian population(Elsevier BV, 2017-12)Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Gut Microbiota Disruption in Hematologic Cancer Therapy: Molecular Insights and Implications for Treatment EfficacyHematologic malignancies (HMs), including leukemia, lymphoma, and multiple myeloma, involve the uncontrolled proliferation of abnormal blood cells, posing significant clinical challenges due to their heterogeneity and varied treatment responses. Despite recent advancements in therapies that have improved survival rates, particularly in chronic lymphocytic leukemia and acute lymphoblastic leukemia, treatments like chemotherapy and stem cell transplantation often disrupt gut microbiota, which can negatively impact treatment outcomes and increase infection risks. This review explores the complex, bidirectional interactions between gut microbiota and cancer treatments in patients with HMs. Gut microbiota can influence drug metabolism through mechanisms such as the production of enzymes like bacterial β-glucuronidases, which can alter drug efficacy and toxicity. Moreover, microbial metabolites like short-chain fatty acids can modulate the host immune response, enhancing treatment effectiveness. However, therapy often reduces the diversity of beneficial bacteria, such as Bifidobacterium and Faecalibacterium, while increasing pathogenic bacteria like Enterococcus and Escherichia coli. These findings highlight the critical need to preserve microbiota diversity during treatment. Future research should focus on personalized microbiome-based therapies, including probiotics, prebiotics, and fecal microbiota transplantation, to improve outcomes and quality of life for patients with hematologic malignancies.Scopus© Citations 30 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The geographic mosaic of Ecuadorian Y-chromosome ancestry(Elsevier BV, 2018-03)Scopus© Citations 23 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Identification of KIT and BRAF mutations in thyroid tissue using next-generation sequencing in an Ecuadorian patient: A case report(Frontiers Media SA, 2023-01-17); ; ; Cristhian Garcia<jats:sec><jats:title>Background</jats:title><jats:p>The incidence of thyroid cancer has increased worldwide. Ecuador presents the highest incidence among Latin American countries and the second around the world. Genetic alteration is the driving force for thyroid tumorigenesis and progression. The change from valine (V) to glutamic acid (E) at codon 600 of the BRAF gene (BRAF<jats:sup>Val600Glu</jats:sup>) is the most commonly reported mutation in thyroid cancer. Moreover, the BRAF mutation is not the only mutation that has been correlated with TC. For instance, mutations and overexpression of the KIT gene has been associated with different types of cancer, including lung and colon cancer, and neuroblastoma.</jats:p></jats:sec><jats:sec><jats:title>Case presentation</jats:title><jats:p>A woman in her early fifties, self-identified as mestizo, from Otavalo, Imbabura-Ecuador had no systemic diseases and denied allergies, but she had a family history of a benign thyroid nodule. Physical examination revealed a thyroid gland enlargement. The fine-needle aspiration biopsy indicated papillary thyroid cancer. The patient underwent a successful total thyroidectomy with an excellent recovery and no additional treatments after surgery. Using Next-Generation sequencing a heterozygous mutation in the BRAF gene, causing an amino acid change Val600Glu was identified. Similarly, in the KIT gene, a heterozygous mutation resulting in an amino acid change Leu678Phe was detected. Moreover, an ancestry analysis was performed, and the results showed 3.1% African, 20.9% European, and 76% Native American ancestry.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>This report represents the genetic characteristics of papillary thyroid cancer in an Ecuadorian woman with a mainly Native American ethnic component. Further studies of pathological variants are needed to determine if the combined demographic and molecular profiles are useful to develop targeted treatments focused on the Ecuadorian population.</jats:p></jats:sec>Scopus© Citations 5 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Mutation rates for 29 short tandem repeat loci from the Ecuadorian population(Elsevier BV, 2017-12)Scopus© Citations 10