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Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
(Medwave Estudios Limitada, 2026-01-14)
Elius Paz-Cruz
;
Patricia Guevara-Ramirez
;
Arianne Llamos Paneque
;
Emily Onofre
;
Christian Rivas Iglesias
INTRODUCTION Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the NF1 gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor predisposition. However, genotype-phenotype correlations remain insufficiently explored, particularly in underrepresented populations. METHODS Three unrelated Ecuadorian pediatric patients with a presumptive diagnosis of NF1 underwent detailed clinical evaluation, next-generation sequencing (NGS), using the TruSight Cancer panel, and ancestry analysis based on 46 ancestry-informative insertion-deletion (InDel) markers. Variants were classified according to ACMG/AMP guidelines using the Franklin and Variant Interpreter platforms, which incorporate in silico prediction tools to assess variant pathogenicity. RESULTS Three distinct pathogenic NF1 variants were identified: one nonsense (p.Arg1534Ter) and two missense (p.Gln20His, p.Asp1644Asn). Clinical findings included early-onset orbital plexiform neurofibroma, multiple café-au-lait macules, axillary/inguinal freckling, radial bone dysplasia, cutaneous neurofibromas, and prepubertal gynecomastia. All patients exhibited predominantly Native American ancestry. In silico analyses predicted a pathogenic classification of all variants. Early pigmentary signs, present in all cases, served as key diagnostic indicators. CONCLUSIONS This case series expands the mutational and phenotypic spectrum of NF1 in a pediatric Ecuadorian cohort. Findings underscore the diagnostic value of early pigmentary signs and highlight less commonly reported manifestations such as radial bone dysplasia and prepubertal gynecomastia. Integrating molecular diagnostics with early clinical evaluation may enable earlier and more precise diagnosis, guiding personalized management strategies. Further studies should investigate genotype-phenotype correlations and the influence of ancestry on NF1 expression.
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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
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Patricia Guevara-Ramírez
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Elius Paz-Cruz
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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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Case report: Exploring Lynch Syndrome through genomic analysis in a mestizo Ecuadorian patient and his brother
(Frontiers Media SA, 2024-12-17)
GUEVARA RAMIREZ, ALEXANDRA PATRICIA
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RUIZ POZO, VIVIANA ALEJANDRA
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CADENA ULLAURI, SANTIAGO ANDRE
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Elius Paz-Cruz
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TAMAYO TRUJILLO, VICTOR RAFAEL
Lynch Syndrome (LS) is a hereditary disorder characterized by genetic mutations in DNA mismatch repair genes, affecting approximately 0.35% of the population. LS primarily increases the risk of colorectal cancer (CRC), as well as various other cancer types like endometrial, breast, and gastric cancers. Microsatellite instability, caused by MMR gene mutations, is a key feature of LS, impacting genes such as MLH1, MSH2, MSH6, and PMS2. Pathology tests studying microsatellite instability and immunohistochemical staining are used to diagnose LS. Furthermore, next-generation sequencing (NGS) allows for a thorough investigation of cancer susceptibility genes. This approach is crucial for identifying affected individuals and managing their care effectively. This study evaluated two siblings who harbored a mutation in the MLH1 gene associated with LS. The older brother was diagnosed with CRC at 24, while the younger brother remains asymptomatic at 7 years old. Genetic testing confirmed the presence of the MLH1 mutation in both siblings. Ancestry analysis showed a mix of African, European, and Native American heritage, common among Ecuadorians. Both siblings shared a family history of cancer, suggesting hereditary factors. Treatment involved surgery and chemotherapy for the older brother, emphasizing the importance of genetic testing for siblings with a cancer family history. NGS plays a pivotal role in identifying genetic mutations and guiding treatment decisions, demonstrating its significance in managing LS and other hereditary cancers.
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Microbiota dynamics preceding bariatric surgery as obesity treatment: a comprehensive review
(Frontiers Media SA, 2024-04-03)
ZAMBRANO ESPINOSA, ANA KARINA
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Elius Paz-Cruz
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Viviana A. Ruiz-Pozo
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Santiago Cadena-Ullauri
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Rafael Tamayo-Trujillo
The review present data on the intricate relationship between bariatric surgery, gut microbiota, and metabolic health in obesity treatment. Bariatric surgery, is recognized as an effective intervention for managing morbid obesity, including various techniques with distinct mechanisms of action, efficacy, and safety profiles including Roux-en-Y Gastric Bypass (RYGB), Sleeve Gastrectomy (SG), Laparoscopic Adjustable Gastric Banding (LAGB), and Biliopancreatic Diversion (BPD). RYGB and SG are the most prevalent procedures globally, inducing gut microbiota changes that influence microbial diversity and abundance. Post-surgery, alterations in bacterial communities occur, such as the increased of <jats:italic>Escherichia coli inversely correlated with fat mass and leptin levels. During digestion, microbiota produce physiologically active compounds like bile acids (Bas) and short-chain fatty acids (SCFAs). SCFAs, derived by microbial fermentation, influence appetite, energy metabolism, and obesity-related pathways. Bas, altered by surgery, modulate glucose metabolism and insulin sensitivity. Furthermore, SG and RYGB enhance incretin secretion, particularly glucagon-like peptide 1 (GLP-1). Therefore, understanding microbiota changes after bariatric surgery could be crucial for predicting metabolic outcomes and developing targeted interventions for obesity management.
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Differential microRNA expression for diagnosis and prognosis of papillary thyroid cancer
(Frontiers Media SA, 2023-04-05)
Viviana A. Ruiz-Pozo
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CADENA ULLAURI, SANTIAGO ANDRE
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Patricia Guevara-Ramírez
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Elius Paz-Cruz
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Rafael Tamayo-Trujillo
<jats:p>Papillary thyroid cancer accounts for 85% of thyroid cancer. The diagnosis is based on ultrasound methods and tumor biopsies (FNA). In recent years, research has revealed the importance of miRNAs, non-coding RNA molecules that regulate gene expression and are involved in many diseases. The present mini review describes upregulated and downregulated miRNAs expression in papillary thyroid cancer patient samples (tissue, serum, plasma) and the genes regulated by these non-coding molecules. In addition, a bibliographic search was performed to identify the expression of miRNAs that are common in tumor tissue and blood. The miRNAs miR-146b, miR-221-3p, miRNA 222, miR-21, miR-296-5p, and miR-145 are common in both tissue and bloodstream of PTC patient samples. Furthermore, these miRNAs regulate genes involved in biological processes such as cell differentiation, proliferation, migration, invasion, and apoptosis. In conclusion, miRNAs could potentially become valuable biomarkers, which could help in the early diagnosis and prognosis of papillary thyroid cancer.</jats:p>
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Human virome: Implications in cancer
(Elsevier BV, 2023-03)
Rafael Tamayo-Trujillo
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Patricia Guevara-Ramírez
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CADENA ULLAURI, SANTIAGO ANDRE
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Elius Paz-Cruz
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Viviana A. Ruiz-Pozo
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Exploring Atrial Fibrillation: Understanding the Complex Relation Between Lifestyle and Genetic Factors
(Elmer Press, Inc., 2024-08)
Rafael Tamayo-Trujillo
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Elius Paz-Cruz
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CADENA ULLAURI, SANTIAGO ANDRE
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GUEVARA RAMIREZ, ALEXANDRA PATRICIA
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Viviana A. Ruiz-Pozo
Cardiovascular 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.

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