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
94 results
Now showing 1 - 10 of 94
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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. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk(Frontiers Media SA, 2026-01-21); ; ; ; Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification. 2026 Paz-Cruz, Guevara-Ramírez, Tamayo-Trujillo, Ruiz-Pozo, Cadena-Ullauri, Ibarra-Castillo, Laso-Bayas, Meza-Chico, Cabrera-Andrade and Zambrano. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series(Medwave Estudios Limitada, 2026-01-14) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Molecular analysis of ancestry informative markers (AIMs-INDELs) in a high altitude Ecuadorian mestizo population affected with breast cancer(Elsevier BV, 2017-12); A. Cabrera-Andrade - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report(Springer Science and Business Media LLC, 2022-09-05); ; <jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more extra X chromosomes, present in all cells or with mosaicism. The aneuploidy is due to either mitotic or meiotic chromosome non-disjunction. Chromosomal translocations are a group of genome abnormalities in which a region or regions of a chromosome break and are transferred to a nonhomologous chromosome or a new location in the same chromosome.</jats:p> </jats:sec><jats:sec> <jats:title>Case presentation</jats:title> <jats:p>Our subject was born in Ecuador at 36 weeks of gestation by vaginal delivery. At 3 months old, the Factor VIII activity measure showed a 23.7% activity indicating a diagnosis of mild hemophilia A. At 1 year old, the karyotype showed an extra X chromosome, consistent with a diagnosis of Klinefelter syndrome, and a translocation between the long arms of chromosomes 1 and 19, at positions q25 and q13, respectively.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Klinefelter syndrome and hemophilia are a rare combination. In the present case report, the subject presents both, meaning that he has inherited one X chromosome from the father and one X chromosome from the mother. Since the father has severe hemophilia A; and the subject presents a below 40% Factor VIII activity, a skewed X inactivation is suggested. Additionally, the proband presents a translocation with the karyotype 47,XXY,t(1;19)(q25;q13). No similar report with phenotypic consequences of the translocation was found. The present report highlights the importance of a correct diagnosis, based not only on the clinical manifestations of a disease but also on its genetic aspects, identifying the value of integrated diagnostics. The subject presents three different genetic alterations, Klinefelter syndrome, hemophilia A, and a 1;19 chromosomal translocation.</jats:p> </jats:sec> - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Microbiota dynamics preceding bariatric surgery as obesity treatment: a comprehensive review(Frontiers Media SA, 2024-04-03); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Spectrum and Clinical Interpretation of TTN Variants in Ecuadorian Patients with Heart Disease: Insights into VUS and Likely Pathogenic VariantsThis 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. - 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> - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Molecular mechanisms of semaglutide and liraglutide as a therapeutic option for obesity(Frontiers Media SA, 2024-04-29); ; ; Obesity, a chronic global health problem, is associated with an increase in various comorbidities, such as cardiovascular disease, type 2 diabetes mellitus, hypertension, and certain types of cancer. The increasing global prevalence of obesity requires research into new therapeutic strategies. Glucagon-like peptide-1 receptor agonists, specifically semaglutide and liraglutide, designed for type 2 diabetes mellitus treatment, have been explored as drugs for the treatment of obesity. This minireview describes the molecular mechanisms of semaglutide and liraglutide in different metabolic pathways, and its mechanism of action in processes such as appetite regulation, insulin secretion, glucose homeostasis, energy expenditure, and lipid metabolism. Finally, several clinical trial outcomes are described to show the safety and efficacy of these drugs in obesity management. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Mediterranean diet and breast cancer: A narrative review(Medwave Estudios Limitada, 2025-03-04);