Biochemical Phenomena, Metabolism, and Nutrition Commons^™

Unraveling Genetic Links Between Diabetes And Heart Failure-A Machine Learning Approach, Sunakhi Sahoo, Marzieh Ayati

Research Symposium

Background: Diabetic heart failure (DHF) is defined as a chronic and progressive disease which is associated with both diabetes and heart failure (HF). Even though there have been many developments in the knowledge of these diseases, there is still much to learn about the genetic crossovers between the two. In this study, we identified genes that are associated with diabetic heart failure and heart failure by using gene expression data from patients with DHF, HF, and a control group of patients who died of natural causes. We sought to identify genes that had altered expression levels which could possibly play …

Uca1 As A Key Regulator Of The Warburg Effect During Anoikis Resistance In Colorectal Cancer Metastasis, Ricardo Pequeno Bracho, Salique Hassan Shaham, Yamile Abuchard Anaya, Sophia Leslie, Kyle Doxtater, Subhash Chauhan, Bilal Hafeez, Tamer Oraby, Manish K. Tripathi

Research Symposium

Colorectal carcinoma (CRC) is the second leading cause of cancer-related mortality in the United States. While localized CRC has a 90% five-year survival rate, this drops sharply to 14% upon metastasis. Metastasis occurs in approximately 40–50% of CRC cases and requires cancer cells to acquire anoikis resistance—a critical adaptation allowing survival after detachment from the extracellular matrix, enabling migration and colonization of secondary sites. Understanding the molecular mechanisms driving anoikis resistance, particularly those linked to altered glucose metabolism, is essential for developing targeted therapies for metastatic CRC.

Cancer cells frequently exhibit the Warburg Effect, a metabolic adaptation favoring glycolysis over …

Pulmonary Fibrosis As A Presentation Of Short Telomere Syndrome: Case Report, Roy Kondapavuluru, Jian Garcia Cruz, Sreejith Pillai, Andres Suarez Parraga

Research Colloquium

Introduction: Short telomere syndrome (STS), also known as accelerated aging syndrome, is an inheritable gene mutation resulting in decreased telomere length causing high cell turnover of organ systems such as skin, bone marrow, liver, hair, lungs, and immune system. Due to diverse clinical manifestations, STS poses a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations. The inherited form of STS demonstrates genetic anticipation occurring at an earlier age with more severe manifestations in the affected progeny. We present a rare case of inherited STS in a young patient with severe pulmonary fibrosis.

Case Presentation: A …

Gene By Environment Interaction And Metabolic-Associated Fatty Liver Disease In Mexican American Patients With Depression, Khalid Sheikh, Vincent P. Diego, Sandra L. Laston, Eron G. Manusov, Sarah Williams-Blangero, John Blangero

Research Colloquium

Knowledge of genetic and environmental (G x E) interaction effects on metabolic-associated fatty liver disease (MAFLD) is limited. The purpose of this study was to examine the impact of G x E interaction effects on MAFLD in Mexican Americans in the Rio Grande Valley (RGV). The environment examined was depression as measured by the Beck Depression Inventory-II (BDI-II). We examined potential G x E interaction in the phenotypic expression of MAFLD, including hepatic steatosis and hepatic fibrosis, using variance component models and likelihood-based statistical inference. Significant G x E interactions were identified for hepatic fibrosis x BDI-II. These findings provide …

Dpyd Pathogenic Variants Associated With Fluoropyrimidines Toxicity, Diana Cristina Pérez-Ibave, Noé Israel Oliva-García, Irasema Ramos-Martínez, Francisco Javier Villarreal Alvarado, Valeria Jimena Gómez Ordaz, Jonatán Isaí Cortes Alfaro, Carlos Horacio Burciaga-Flores, Juan Francisco González-Guerrero, Oscar Vidal-Gutiérrez, Maria De Lourdes Garza-Rodriguez

Research Symposium

Background: Genetic variants in dihydropyrimidine dehydrogenase gene (DPYD) coding for the key enzyme (DPD) of fluoropyrimidines (FPs) catabolism. DPYD contributes to the development of severe FPs-related toxicity, and pathogenic DPYD variants detection reduces side effects and complications associated with FP-toxicity. The allelic frequency of these variants in the Mexican population is currently unknown.

Methods: The study was carried out at the Centro Universitario Contra el Cáncer (CUCC) of the Universidad Autónoma de Nuevo León (UANL) in Monterrey México. Genomic DNA was isolated from 154 subjects using the QIAamp DNA Blood Midi kit (QIAGEN) following the manufacturer's recommendations. We …

Familial Chylomicronemia Syndrome: A Family Case Report In U.S./Mexico Border By Cediamet, Carlos E. Maldonado, Carlo Hector, Mariana Mendez, Claudia Munguia-Cisneros, Leonel Vela, Juan Carlos Lopez Alvarenga

Research Symposium

Primary familiar hyperchylomicronemia syndrome (FHS) is an extremely rare autosomal recessive condition. In 80% of cases is a result of a mutation in lipoprotein lipase, meanwhile, the 20% is a malfunctioning enzyme due to APOC2, APOA5, LMF1, or GP1HBP1. It is estimated FHS affects 3000 to 5000 individuals globally, with no correlation by sex or race. We are presenting a family with FHS in Reynosa, Mexico.

The index patient was a male 36 years old who attended the CEDIAMET clinic after his 6th episode of acute pancreatitis. He has triglycerides 1300 mg/dl and CT scan with Balthazar C score. He …

Occupational Deprivation Or Occupational Adaptation Of Mexican Americans On Renal Dialysis, Shirley A. Wells

Occupational Therapy Faculty Publications

The aim of this study was to explore the occupational changes and perceptions experienced by Mexican Americans with end-stage renal disease (ESRD) and their families living with dialysis. In-depth interviews were conducted with 17 Mexican Americans with ESRD and 17 family members. The participants with ESRD described altered or lost activity patterns, capacities and freedoms. With a heightened awareness of death, the family members made altered occupational choices, which were consistent with their cultural values. Changes in the physical body, adhering to the dialysis regimen and environmental restrictions created barriers to occupational participation. These findings suggest that living with dialysis …