Gabriela Jaramillo-Koupermann

Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center

Rossana Ruiz-Urbaez, David Males-Maldonado, Mariela Viviana Villagómez-Estrada, Carlos Alberto Reyes-Silva et autres

Background Maturity-Onset Diabetes of the Young (MODY) comprises monogenic, non-syndromic forms of diabetes inherited in an autosomal dominant pattern. MODY is frequently misdiagnosed as type 1 diabetes (T1D), type 2 diabetes (T2D), or gestational diabetes mellitus (GDM). Studies suggest that 50–90% of …

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Dyggve–Melchior–Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder

Carlos Reyes-Silva, Joseline Gallardo-Vizuete, Judith Guzmán-Acán, Gabriela Jaramillo-Koupermann et autres

Background: Dyggve–Melchior–Clausen syndrome (DMC) is a rare autosomal recessive skeletal dysplasia characterized by dwarfism, coarse facial features, and intellectual disability. Caused by loss-of-function variants in the DYM gene, which encodes dymeclin, DMC is predominantly reported in consanguineous populations but remains poorly studied …

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Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson’s Disease

Tobias M. Franz, Rohitha K. Punathil, Alexandra I. Soto‐Beasley, Audrey J. Strongosky et autres

INTRODUCTION: Early-onset Parkinson's Disease (EOPD) is a neurodegenerative disease with the clinical manifestation of movement symptoms before the age of 50. Patients with EOPD frequently have a positive family history of disease, with bi-allelic loss of function mutations in PRKN and PINK1 …

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Characterization of Screening Strategies for Lynch Syndrome in Latin America

Anthony Vladimir Campos-Segura, Karin Álvarez, Bernard Rossi, Mábel Bohórquez et autres

BACKGROUND & AIMS: In Latin America, genetic testing for Lynch syndrome (LS) has been partially implemented. Traditionally, LS diagnosis relied on the Amsterdam criteria and Bethesda guidelines, collectively known as traditional screening (TS). However, TS may miss up to 68% of LS …

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Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador

Gemma Llargués‐Sistac, Laia Bonjoch, Jenifer Muñoz, Xavier Domínguez‐Rovira et autres

Colorectal cancer (CRC) is one of the most common cancers worldwide. Lynch Syndrome (LS) is the most common form of hereditary CRC and it is caused by germline defects in the DNA-mismatch repair (MMR) pathway. It is of extreme importance for affected …

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IDF23-0285 Diabetic nephropathy in a patient MODY10 caused by a pathogenic variant of the insulin gene

Rossana Massiel Ruiz Urbaez, Marta Estrada, Carlos Reyes Silva, Gabriela Jaramillo-Koupermann et autres

Genetic Screening for Prkn and Pink1 in Patients with Early-Onset Parkinson's Disease from Ecuador

Tobias M. Franz, Rohitha K. Punathil, Alexandra I. Soto‐Beasley, Audrey J. Strongosky et autres

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SAT516 Impact Of The Braf V600E Gene Mutation In Patients With Papillary Thyroid Cancer From Northern Ecuadorian Andes

Paola Solís-Pazmiño, Tamara Cardenas, Jessica Cucalon, Gabriela Jaramillo-Koupermann et autres

Abstract Disclosure: A.P. Solis Pazmiño: None. T. Cardenas: None. J. Cucalon: None. G. Jaramillo-Koupermann: None. G. Galvez: None. C. Reyes: None. J. Salazar- Vega: None. IntroductionThe incidence of thyroid cancer (TC) is increasing worldwide. Most new TC cases are papillary thyroid cancer …

Clopidogrel resistance in extremely high cardiovascular risk patients with genotype CYP2C19

Liliana Cárdenas, Gabriela Jaramillo-Koupermann, Paúl Cárdenas, Gabriela Gálvez et autres

Identifying risk factors is of utmost importance in patients with cardiovascular risk, even more so in those with extremely high risk, who still present with complications despite receiving treatment as secondary prevention. We hypothesized that patients with very high cardiovascularrisk would have …

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Actionable mutations in non-small cell lung cancer in patients at hospital de Especialidades Eugenio Espejo, Ecuador 2017–2020

Miguel Ángel Fernández Freire, Gabriela Isabel Gálvez Salazar, Mariana M. Scudeler, Fernanda Rodrigues‐Soares et autres

OBJECTIVES: Determine the frequency of actionable mutations in non-small cell lung cancer (NSCLC) and their correlation with overall survival (OS) and the site of metastases. METHODS: We performed a descriptive cross-sectional study at the Hospital de Especialidades Eugenio Espejo, Ecuador, between 2017 …

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PSUN23 Clinical and Surgery Approach in Pheocromocytomas: A Cross-Sectional Study at a Referral Center in Ecuador

Jorge Salazar Vega, Mariela Villagomez Estrada, Paola Solis Pazmino, Rossana Ruiz Urbaez et autres

Abstract Background An annual incidence of pheochromocytoma (PHEO) has been reported between 0.4 to 9.5 cases per million inhabitants and a prevalence of 2.13 per 100 000 people. More than 40% of patients have a genetic predisposition, and its presentation is heterogeneous, …

Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations

Camila Farinango, Jennifer Gallardo, Byron Freire‐Paspuel, Rodrigo Flores‐Espinoza et autres

Dihydropyrimidine dehydrogenase is one of the main pharmacological metabolizers of fluoropyrimidines, a group of drugs widely used in clinical oncology. Around 20 to 30% of patients treated with fluoropyrimidines experience severe toxicity caused by a partial or total decrease in enzymatic activity. …

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