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Next-Generation sequencing in a Native American patient with sea-blue histiocytosis: A case report and genomic analysis
(Medwave Estudios Limitada, 2025-08-08)
ZAMBRANO ESPINOSA, ANA KARINA
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RUIZ POZO, VIVIANA ALEJANDRA
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Paz Cruz Elius Andrés
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Mateo Antonio Rodríguez
;
CADENA ULLAURI, SANTIAGO ANDRE
This study presents a case of a 25-year-old Native American woman from Otavalo, Ecuador, diagnosed with sea-blue histiocytosis and myelodysplastic syndrome. Bone marrow aspiration revealed sea-blue histiocytes, and next-generation sequencing identified a likely pathogenic stop-gain mutation in the gene, associated with myelodysplastic syndrome. Additionally, variants of uncertain significance were found in the and genes. Ancestral analysis showed a predominantly Native American composition, suggesting a potential genetic predisposition specific to Andean communities. The report underscores the importance of understanding genetic and ancestral backgrounds in diagnosing and managing hematological disorders.
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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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Assessment of the COVID-19 pandemic progression in Ecuador through seroprevalence analysis of anti-SARS-CoV-2 IgG/IgM antibodies in blood donors
(Frontiers Media SA, 2024-06-21)
Aníbal Gaviria
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TAMAYO TRUJILLO, VICTOR RAFAEL
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PAZ CRUZ, ELUIS ANDRES
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Francisco Cevallos
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CADENA ULLAURI, SANTIAGO ANDRE
Coronavirus Disease 2019 (COVID-19) is a severe respiratory illness caused by the RNA virus SARS-CoV-2. Globally, there have been over 759.4 million cases and 6.74 million deaths, while Ecuador has reported more than 1.06 million cases and 35.9 thousand deaths. To describe the COVID-19 pandemic impact and the vaccinations effectiveness in a low-income country like Ecuador, we aim to assess the seroprevalence of IgG and IgM antibodies against SARS-CoV-2 in a sample from healthy blood donors at the Cruz Roja Ecuatoriana. Methods: The present seroprevalence study used a lateral flow immunoassay (LFIA) to detect anti-SARS-CoV-2 IgG and IgM antibodies in months with the highest confirmed case rates (May 2020; January, April 2021; January, February, June, July 2022) and months with the highest vaccination rates (May, June, July, August, December 2021) in Quito, Ecuador. The IgG and IgM seroprevalence were also assessed based on sex, age range, blood type and RhD antigen type. The sample size was 8,159, and sampling was performed based on the availability of each blood type. Results: The results showed an overall IgG and IgM seroprevalence of 47.76% and 3.44%, respectively. There were no differences in IgG and IgM seroprevalences between blood groups and sex, whereas statistical differences were found based on months, age range groups, and RhD antigen type. For instance, the highest IgG seroprevalence was observed in February 2022 and within the 17-26 years age range group, while the highest IgM seroprevalence was in April 2021 and within the 47-56 years age range group. Lastly, only IgG seroprevalence was higher in RhD+ individuals while IgM seroprevalence was similar across RhD types. Discussion: This project contributes to limited data on IgG and IgM antibodies against SARS-CoV-2 in Ecuador. It suggests that herd immunity may have been achieved in the last evaluated months, and highlights a potential link between the RhD antigen type and COVID-19 susceptibility. These findings have implications for public health strategies and vaccine distribution not only in Ecuador but also in regions with similar characteristics.

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