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Articles 61 - 90 of 216

Full-Text Articles in Medical Sciences

A Peculiar Pancreatitis: Investigating The Adverse Effects Of Mesalamine, Elias Arellano Villanueva, Miguel Lopez, Alhasan Asaad, Jose Campo Maldonado Mar 2025

A Peculiar Pancreatitis: Investigating The Adverse Effects Of Mesalamine, Elias Arellano Villanueva, Miguel Lopez, Alhasan Asaad, Jose Campo Maldonado

Research Symposium

Background: Acute pancreatitis (AP) is a leading cause of gastrointestinal-related hospitalizations in the United States, accounting for approximately 300,000 emergency department visits annually. It is characterized by parenchymal and peripancreatic fat necrosis accompanied by inflammation. The clinical diagnosis of AP is based on elevated serum amylase and lipase levels, characteristic imaging findings, and epigastric pain often radiating to the back. While gallstones and alcohol use are the most common causes of AP, drug-induced pancreatitis (DIP) is a rare but increasingly recognized etiology, contributing to 0.1–5% of cases. DIP is typically diagnosed by excluding other causes and is often associated with …


Wernicke-Korsakoff Syndrome: A Current Perspective, Astrid-Ines Foamkom, Maria Sophia Zaraspe Malbas, Kory D. Punch, Victor A. Bob-Yellowe, Allison J. Mcadams, Julia Paz, Karina Zamora, Kelsey Baker, Ihsan Salloum, Ney Alliey-Rodriguez Mar 2025

Wernicke-Korsakoff Syndrome: A Current Perspective, Astrid-Ines Foamkom, Maria Sophia Zaraspe Malbas, Kory D. Punch, Victor A. Bob-Yellowe, Allison J. Mcadams, Julia Paz, Karina Zamora, Kelsey Baker, Ihsan Salloum, Ney Alliey-Rodriguez

Research Symposium

Background: Wernicke-Korsakoff syndrome (WKS) is a debilitating neuropsychological condition characterized by the profound loss of thiamine (vitamin B1). The neuropsychological presentation of WKS has been increasingly refined since its discovery in the nineteenth century, leading to a more robust understanding of the condition. In general, it has been shown that WKS causes differ amongst individuals but the main causes for the condition include chronic alcoholism, immunodeficiency, genetic disorders, malnutrition, drug-induced thiamine deficiency, and hyperemesis gravidarum. However, it remains unclear how demographic, environmental, and ethnic differences may influence WKS etiology and severity. Here, we sought to conduct a systematic review of …


Utilidad De La Combinación De Los Biomarcadores: Procalcitonina, Proteína C Reactiva Y Volumen Plaquetario Medio En El Diagnóstico Temprano De Sepsis Neonatal [Usefulness Of The Combination Of Biomarkers: Procalcitonin, C-Reactive Protein And Mean Platelet Volume In The Early Diagnosis Of Neonatal Sepsis], Oscar Manuel Berlanga Bolado Jr, Patricia Rivera Vazquez, Arely Socorro Hernández García, Angelica Lizbeth Martinez Ortiz Mar 2025

Utilidad De La Combinación De Los Biomarcadores: Procalcitonina, Proteína C Reactiva Y Volumen Plaquetario Medio En El Diagnóstico Temprano De Sepsis Neonatal [Usefulness Of The Combination Of Biomarkers: Procalcitonin, C-Reactive Protein And Mean Platelet Volume In The Early Diagnosis Of Neonatal Sepsis], Oscar Manuel Berlanga Bolado Jr, Patricia Rivera Vazquez, Arely Socorro Hernández García, Angelica Lizbeth Martinez Ortiz

Research Symposium

Introducción: La sepsis neonatal es una causa frecuente de morbilidad y mortalidad infantil. Se le ha definido como un síndrome clínico caracterizado por signos sistémicos de infección, acompañado de bacteriemia en el primer mes de vida. Por lo tanto, el diagnóstico temprano es fundamental.

Objetivo: Conocer la sensibilidad y especificidad de la combinación de biomarcadores séricos como procalcitonina, proteína C reactiva y volumen plaquetario medio en el diagnóstico temprano de sepsis neonatal.

Material y métodos: Estudio clínico, de tipo prospectivo, predictivo, observacional, analítico, longitudinal y conveniencia. Se analizaron los biomarcadores como PCT, PCR, VPM para diagnosticar sepsis neonatal. Se incluyeron …


Comparison Of Deep Learning And Traditional Machine Learning Models For Predicting Mild Cognitive Impairment Using Plasma Proteomic Biomarkers, Kesheng Wang, Donald A. Adjeroh, Wei Fang, Suzy M. Walter, Danqing Xiao, Ubolrat Piamjariyakul, Chun Xu Mar 2025

Comparison Of Deep Learning And Traditional Machine Learning Models For Predicting Mild Cognitive Impairment Using Plasma Proteomic Biomarkers, Kesheng Wang, Donald A. Adjeroh, Wei Fang, Suzy M. Walter, Danqing Xiao, Ubolrat Piamjariyakul, Chun Xu

Health & Biomedical Sciences Faculty Publications

Mild cognitive impairment (MCI) is a clinical condition characterized by a decline in cognitive ability and progression of cognitive impairment. It is often considered a transitional stage between normal aging and Alzheimer’s disease (AD). This study aimed to compare deep learning (DL) and traditional machine learning (ML) methods in predicting MCI using plasma proteomic biomarkers. A total of 239 adults were selected from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort along with a pool of 146 plasma proteomic biomarkers. We evaluated seven traditional ML models (support vector machines (SVMs), logistic regression (LR), naïve Bayes (NB), random forest (RF), k-nearest neighbor …


Excess Of Rare Noncoding Variants In Several Type 2 Diabetes Candidate Genes Among Asian Indian Families, Madhusmita Rout, Deepika Ramu, Mariana Mendez, Juan C. Lopez-Alvarenga, Rector Arya, Roy G. Resendez, Marcio A. Almeida, Srinivas Mummidi, Ravi Duggirala, Juan M. Peralta, John Blangero Feb 2025

Excess Of Rare Noncoding Variants In Several Type 2 Diabetes Candidate Genes Among Asian Indian Families, Madhusmita Rout, Deepika Ramu, Mariana Mendez, Juan C. Lopez-Alvarenga, Rector Arya, Roy G. Resendez, Marcio A. Almeida, Srinivas Mummidi, Ravi Duggirala, Juan M. Peralta, John Blangero

School of Medicine Publications

Background

Type 2 diabetes (T2D) etiology is highly complex due to its multiple roots of origin. Polygenic risk scores (PRS) based on genome-wide association studies (GWAS) can partially explain T2D risk. Asian Indian people have up to six times higher risk of developing T2D than European people, and underlying causes of this disparity are unknown.

Methods

We have performed targeted sequencing of ten T2D GWAS/candidate regions using endogamous Punjabi Sikh families and replication studies using unrelated Sikh people and families from three other Indian endogamous ethnic groups (EEGs).

Results

We detect rare and ultra-rare variants (RVs) in KCNJ11-ABCC8 …


The Role Of Molecular Profiling In De-Escalation Of Toxic Therapy In Breast Cancer, Sonia Y. Khan, Tonjeh Bah, Rakhshanda Layeequr Rahman Feb 2025

The Role Of Molecular Profiling In De-Escalation Of Toxic Therapy In Breast Cancer, Sonia Y. Khan, Tonjeh Bah, Rakhshanda Layeequr Rahman

School of Medicine Publications

The prevalence and mortality associated with breast cancer have forced healthcare providers to leverage surgery, chemotherapy, radiation therapy, and immunotherapy to achieve a cure. Whereas mortality has significantly dropped over the decades, long-term toxicities and healthcare costs are prohibitive. Therefore, a better understanding of tumor biology through molecular profiling is being utilized for de-escalation of treatment where appropriate. As research evolves, there is growing evidence that less aggressive treatment regimens, when appropriately tailored, can be equally effective for certain patient populations. This approach not only enhances the quality of life for patients by reducing the financial, physical, and emotional burdens …


Predictors Of Bi-Directional Transitions From Mild Cognitive Impairment In A Diverse Cohort, Mitzi M. Gonzales, Roman Fernandez, Sarah Kremen, Zaldy S. Tan, Amy E. Werry, Xueqiu Jian, John Hart, Donald Royall, Gladys Maestre, Sara Espinoza Feb 2025

Predictors Of Bi-Directional Transitions From Mild Cognitive Impairment In A Diverse Cohort, Mitzi M. Gonzales, Roman Fernandez, Sarah Kremen, Zaldy S. Tan, Amy E. Werry, Xueqiu Jian, John Hart, Donald Royall, Gladys Maestre, Sara Espinoza

School of Medicine Publications

Trajectories following a diagnosis of mild cognitive impairment (MCI) are varied and may fluctuate over time. Among diverse ethnic and racial groups, social factors, medical comorbidities, and biases in assessment procedures may contribute to greater heterogeneity in the MCI diagnostic category and affect its prognostic significance for dementia. The study goal was to evaluate the frequency and variables associated with MCI transitions among non-Hispanic White (NHW) and Latinx older adults. Multistate Markov models characterized transitions across diagnostic states (cognitively unimpaired (CU), MCI, dementia) over ten years. Variables associated with transitions were assessed using hazard ratios (HR) and 95% confidence intervals …


Pattern Integration And Differentiation: Dual Process Model Of Episodic Memory, Hallvard Røe Evensmoen, Lars M. Rimol, Henning Stople Rise, Tor Ivar Hansen, Hamed Nili, Anderson M. Winkler, Asta K. Håberg Jan 2025

Pattern Integration And Differentiation: Dual Process Model Of Episodic Memory, Hallvard Røe Evensmoen, Lars M. Rimol, Henning Stople Rise, Tor Ivar Hansen, Hamed Nili, Anderson M. Winkler, Asta K. Håberg

Human Genetics Publications

The role of precise timing in episodic memory remains obscure. We showed 139 participants episodes consisting of objects, and tested subsequent memory for the precise timing and order of the objects and episodes. Temporal compression of the episode enhanced memory for relative but not absolute timing of the objects’ presentation and their order. Conversely, temporal expansion between neighboring episodes was associated with successful memory for episode order. fMRI in 36 participants revealed that temporal compression of the episode was associated with more similar activation patterns within episodes in several brain regions including the posterior hippocampus. However, the activation pattern in …


Sex Differences In Inter-Temporal Decision Making And Cortical Thickness Of The Orbitofrontal And Insula In Young Adult Cannabis Users: Evidence From 1111 Subjects, Alan N. Francis, Joan A. Camprodon, Francesca Filbey Jan 2025

Sex Differences In Inter-Temporal Decision Making And Cortical Thickness Of The Orbitofrontal And Insula In Young Adult Cannabis Users: Evidence From 1111 Subjects, Alan N. Francis, Joan A. Camprodon, Francesca Filbey

School of Medicine Publications

To test for sex differences in the impact of cannabis use on decision-making and brain correlates, we employed cortical thickness (CT) analysis of brain regions involved in intertemporal decision-making namely bilateral orbitofrontal cortex(OFC) and insula in young adult nondependent cannabis-users(CU) and non-users(NU) and their scores on delay discounting task. Neuroimaging analyzes of previously collected data were performed on 608CU and 503NU. CT analysis was performed on MRI images. OFC and insula thickness, scores on the delay discounting test were compared between groups and correlated. Controlling alcohol-use and intra-cranial-volume, CU exhibited sex differences in CT. The bilateral insula was significantly thinner …


Gene-Environment Interactions In Non-Alcoholic Fatty Liver Disease: Insights From Mexican American Populations, Eron G. Manusov, Vincent P. Diego, Marcio Almeida, Jacob Galan, Auwal A. Bala, Marco Arriaga, Natasha Garcia-Rodriguez, Renee Hernandez, Satish Kumar, John Blangero, Sarah Williams-Blangero Dec 2024

Gene-Environment Interactions In Non-Alcoholic Fatty Liver Disease: Insights From Mexican American Populations, Eron G. Manusov, Vincent P. Diego, Marcio Almeida, Jacob Galan, Auwal A. Bala, Marco Arriaga, Natasha Garcia-Rodriguez, Renee Hernandez, Satish Kumar, John Blangero, Sarah Williams-Blangero

School of Medicine Publications

Nonalcoholic Fatty Liver Disease (NAFLD) is a prevalent and complex condition influenced by both genetic and environmental factors. This chapter explores the genotype-by-environment interactions that contribute to the development and progression of NAFLD in the Mexican American population. Using advanced genetic epidemiology and bioinformatics approaches, we investigated how specific genetic variants interact with environmental factors such as depression, acculturation stress, and social determinants of health, to influence NAFLD risk and severity. Our findings reveal significant genotype-by-environment interactions for key NAFLD-related traits, including HbA1c, AST/ALT ratio, and steatosis-controlled attenuation parameter (CAP). We also discuss the application of cutting-edge proteomic and transcriptomic …


Accelerating Heritability, Genetic Correlation, And Genome-Wide Association Imaging Genetic Analyses In Complex Pedigrees, Brian Donohue, Si Gao, Thomas E. Nichols, Bhim M. Adhikari, Yizhou Ma, Neda Jahanshad, Francis J. Mcmahon, Elizabeth M. Humphries, William Burroughs, John Blangero Dec 2024

Accelerating Heritability, Genetic Correlation, And Genome-Wide Association Imaging Genetic Analyses In Complex Pedigrees, Brian Donohue, Si Gao, Thomas E. Nichols, Bhim M. Adhikari, Yizhou Ma, Neda Jahanshad, Francis J. Mcmahon, Elizabeth M. Humphries, William Burroughs, John Blangero

School of Medicine Publications

National and international biobanking efforts led to the collection of large and inclusive imaging genetics datasets that enable examination of the contribution of genetic and environmental factors to human brains in illness and health. High-resolution neuroimaging (~104–6 voxels) and genetic (106–8 single nucleotide polymorphic [SNP] variants) data are available in statistically powerful (N = 103–5) epidemiological and disorder-focused samples. Performing imaging genetics analyses at full resolution afforded in these datasets is a formidable computational task even under the assumption of unrelatedness among the subjects. The computational complexity rises as ~N2–3 (where N is the sample size), when …


Roles Of The Gut Microbiota In Human Neurodevelopment And Adult Brain Disorders, Rahul Mallick, Sanjay Basak, Ranjit Kumar Das, Antara Banerjee, Sujay Paul, Surajit Pathak, Asim K. Duttaroy Nov 2024

Roles Of The Gut Microbiota In Human Neurodevelopment And Adult Brain Disorders, Rahul Mallick, Sanjay Basak, Ranjit Kumar Das, Antara Banerjee, Sujay Paul, Surajit Pathak, Asim K. Duttaroy

Health & Biomedical Sciences Faculty Publications

Growing evidence demonstrates the connection between gut microbiota, neurodevelopment, and adult brain function. Microbial colonization occurs before the maturation of neural systems and its association with brain development. The early microbiome interactions with the gut-brain axis evolved to stimulate cognitive activities. Gut dysbiosis can lead to impaired brain development, growth, and function. Docosahexaenoic acid (DHA) is critically required for brain structure and function, modulates gut microbiota, and impacts brain activity. This review explores how gut microbiota influences early brain development and adult functions, encompassing the modulation of neurotransmitter activity, neuroinflammation, and blood-brain barrier integrity. In addition, it highlights processes of …


Whole-Genome Sequencing In 333,100 Individuals Reveals Rare Non-Coding Single Variant And Aggregate Associations With Height, Gareth Hawkes, Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Joanne E. Curran Oct 2024

Whole-Genome Sequencing In 333,100 Individuals Reveals Rare Non-Coding Single Variant And Aggregate Associations With Height, Gareth Hawkes, Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Joanne E. Curran

School of Medicine Publications

The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare ( < 0.1% minor-allele-frequency) single-variant and aggregate testing of non-coding variants in regulatory regions based on proximal-regulatory, intergenic-regulatory and deep-intronic annotation. We observed 29 independent variants associated with height at P <  after conditioning on previously reported variants, with effect sizes ranging from −7cm to +4.7 cm. We also identified and replicated non-coding aggregate-based associations proximal to HMGA1 containing variants associated with a 5 cm taller height and of highly-conserved variants in MIR497HG on chromosome 17. We have developed an approach for identifying non-coding rare variants in regulatory regions with large effects from whole-genome sequencing data associated with complex traits.


Larp1 Haploinsufficiency Is Associated With An Autosomal Dominant Neurodevelopmental Disorder, James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Roberta Sierra, Lori Berry, Kent Carter Oct 2024

Larp1 Haploinsufficiency Is Associated With An Autosomal Dominant Neurodevelopmental Disorder, James Chettle, Raymond J. Louie, Olivia Larner, Robert Best, Kevin Chen, Josephine Morris, Zinaida Dedeic, Roberta Sierra, Lori Berry, Kent Carter

School of Medicine Publications

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around 20% of cases. Here we report a case series of seven unrelated probands (6 males, 1 female) with ASD or another variable NDD phenotype attributed to de novo heterozygous loss of function or missense variants in the gene LARP1. LARP1 encodes an RNA binding protein that post-transcriptionally regulates the stability and translation of thousands of mRNAs, including those regulating cellular metabolism and metabolic plasticity. …


Longitudinal Development Of Resting-State Functional Connectivity In Adolescents With And Without Internalizing Disorders, Eline F. Roelofs, Janna Marie Bas-Hoogendam, Anderson M. Winkler, Nic J.A. Van Der Wee, Robert R.J. M. Vermeiren Sep 2024

Longitudinal Development Of Resting-State Functional Connectivity In Adolescents With And Without Internalizing Disorders, Eline F. Roelofs, Janna Marie Bas-Hoogendam, Anderson M. Winkler, Nic J.A. Van Der Wee, Robert R.J. M. Vermeiren

School of Medicine Publications

Longitudinal studies using resting-state functional magnetic resonance imaging (rs-fMRI) focused on adolescent internalizing psychopathology are scarce and have mostly investigated standardized treatment effects on functional connectivity (FC) of the full amygdala. The role of amygdala subregions and large resting-state networks had yet to be elucidated, and treatment is in practice often personalized. Here, longitudinal FC development of amygdala subregions and whole-brain networks are investigated in a clinically representative sample. Treatment-naïve adolescents with clinical depression and comorbid anxiety who started care-as-usual (n = 23; INT) and healthy controls (n = 24; HC) participated in rs-fMRI scans and questionnaires at baseline (before …


Investigating Neuropsychiatric Symptoms In Asian Subgroups With Dementia Using The National Alzheimer's Coordinating Center (Nacc) Database, Maria Sophia Zaraspe Malbas, Luis A. Peña Marquez, Ramya Kunta, Astrid-Ines Foamkom, Ney Alliey-Rodriguez Sep 2024

Investigating Neuropsychiatric Symptoms In Asian Subgroups With Dementia Using The National Alzheimer's Coordinating Center (Nacc) Database, Maria Sophia Zaraspe Malbas, Luis A. Peña Marquez, Ramya Kunta, Astrid-Ines Foamkom, Ney Alliey-Rodriguez

Research Colloquium

Background: The incidence of neuropsychiatric symptoms (NPS), such as agitation, depression, anxiety, irritability, and sleeping disturbances, is common among patients with dementia. These symptoms are commonly evaluated with the Neuropsychiatric Inventory Questionnaire (NPI-Q), a useful tool for studying changes in behavior associated with neurodegenerative disorders for the past couple of decades. Another database utilizing the NPI-Q to assess NPS is the National Alzheimer’s Coordinating Center (NACC) Database. This uniform data set aims to store participant information, including neuropsychological tests, demographic information, and medical health history, collected from Alzheimer’s Disease Centers across the United States. To date, no studies using the …


Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez Sep 2024

Targeting Ribosome Biogenesis Is A Novel Approach For The Management Of Pancreatic Cancer, Mudassier Ahmad, Haider Ahsan, Carlos Perez, Muhammad Bangash, Andrew Massey, Emmanuel Anning, Manish Tripathi, Dae Kim, Subhash C. Chauhan, Bilal Bin Hafeez

Research Colloquium

Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related deaths in the United States with limited therapeutic options available. Gemcitabine, a deoxycytidine nucleoside analog is currently considered the most effective therapy for PanCa. However, it shows only a marginal survival benefit of six months. Aberrant ribosome biogenesis occurs in most tumor types. We observed that PanCa cells are addicted to ribosome biogenesis, which supports their highly aggressive metastatic phenotypes. Thus, strategically targeting ribosome biogenesis process could be one of the ideal strategies for the prevention and treatment of PanCa. In this study, we elucidated the molecular mechanisms of POLR1A …


Unexpected Biliary Duct Dilation, A Wise Decision-Making Case., Mario A. Trujillo, Mathew R. Peynado, Muhammad Ali Siddiqui, Laura P. Ackerman Sep 2024

Unexpected Biliary Duct Dilation, A Wise Decision-Making Case., Mario A. Trujillo, Mathew R. Peynado, Muhammad Ali Siddiqui, Laura P. Ackerman

Research Colloquium

Background: Common bile duct dilation is expected in certain healthy populations with specific factors like age or post procedure status. When a size larger than expected is found in an acute setting further investigation is required. In the setting of acute abdominal pain in a patient with past medical history of cholelithiasis, the study protocol for patients with more than expected enlarged common bile duct and no apparently underlying disease in the biliary tree is not well elucidated.

Case: A 68-year-old female with past medical history but not limited to cholelithiasis, hypertension, type 2 diabetes mellitus, end stage renal …


Can Zinc Reduce The Disease Burden Of Diabetes Mellitus?, Ronald Shaju, Rahnuma Ahmad, Mohammed S. Razzaque Sep 2024

Can Zinc Reduce The Disease Burden Of Diabetes Mellitus?, Ronald Shaju, Rahnuma Ahmad, Mohammed S. Razzaque

Research Colloquium

Background: Diabetes mellitus is a prevalent chronic metabolic disorder characterized by hyperglycemia. Traditionally, this disease is managed with medication and dietary modifications. However, recent studies have shown the potential role of zinc in diabetes management. We explained the complex interplay between zinc deficiency, impaired glucose metabolism, and the progression of diabetes to elucidate the potential therapeutic benefits of zinc supplementation.

Methods: A comprehensive literature search using databases such as Google Scholar, PubMed, and Scopus was conducted to identify relevant studies published between November 2023 and February 2024. Keywords such as ‘zinc in diabetes mellitus,’ ‘zinc supplementation,’ ‘zinc deficiency,’ and ‘diabetic …


Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber Sep 2024

Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber

Research Colloquium

Background: Hypoxic-ischemic encephalopathy (HIE) is the second-leading cause of neonatal morbidity and mortality worldwide. There are sex differences in the pathophysiology of HIE, particularly in microglia, which are critical in the immune response. Prior work highlights microglial aggregation in the hippocampus of human infants as a marker for HIE, but it is unknown whether this differs by sex.

Aim: We compare the microglial response in post-mortem hippocampal tissue from male and female neonates diagnosed with HIE vs. Controls who expired from other causes.

Methods: Using a retrospective cohort design, we reviewed medical records of neonates with hippocampal tissue in the …


Houston, We Have A Problem: Diagnostic Difficulties In The Aids Patient With Tuberculosis Infection, Hector D. Preciado, Maria E. Torres, Muhammad A. Siddiqui, Liza Salloum, Lee Gelpi, Jose E. Campo Maldonado Sep 2024

Houston, We Have A Problem: Diagnostic Difficulties In The Aids Patient With Tuberculosis Infection, Hector D. Preciado, Maria E. Torres, Muhammad A. Siddiqui, Liza Salloum, Lee Gelpi, Jose E. Campo Maldonado

Research Colloquium

Background: Tuberculosis (TB) is the leading cause of infectious death worldwide with 1.5 million deaths annually and nearly 1/4th of the world’s population (1.7 billion) infected with latent tuberculosis infection (LTBI) in 2014. Its diagnosis conventionally relies on tuberculin skin testing (TST), and Interferon-Gamma Release Assay (IGRA) which relies on the production of Interferon Gamma (IFN-y) in response to Mycobacterium tuberculosis (MTB) specific antigens. IGRA is a useful tool for detecting latent TB disease, and can be used as an adjunct for the diagnosis of active TB cases. Increases in IFN-y levels might support the diagnosis of a new TB …


Comorbidity Of Mood Disorders And Upper Airway Resistance Syndrome: A Case Report, Abhishekh Pokhrel, Alexa Lissete Zarate, Alcides Amador Sep 2024

Comorbidity Of Mood Disorders And Upper Airway Resistance Syndrome: A Case Report, Abhishekh Pokhrel, Alexa Lissete Zarate, Alcides Amador

Research Colloquium

Background: The comorbidity of mood disorders and Upper Airway Resistance Syndrome (UARS) presents a significant challenge, especially in pediatric populations. UARS, characterized by increased upper airway resistance during sleep, often leads to disrupted sleep and daytime symptoms such as fatigue and cognitive impairment. Studies estimate UARS affects 15-30% of patients undergoing polysomnography for suspected sleep-disordered breathing. Mood & Anxiety Disorders are prevalent in patients with sleep-disordered breathing, with higher rates than in the general population.

Case Presentation: 16-year-old female, with psychiatric history of Bipolar II Disorder current episode depressed, ADHD, and Other Specified Anxiety Disorder presents for a follow-up. Since …


Unraveling Dilated Cardiomyopathy Linked To An Enigmatic Mybpc3 Variant, Khiem D. Ngo, Carlos Alejos, Jennifer Rojas, Sobia Memon, James Stone Sep 2024

Unraveling Dilated Cardiomyopathy Linked To An Enigmatic Mybpc3 Variant, Khiem D. Ngo, Carlos Alejos, Jennifer Rojas, Sobia Memon, James Stone

Research Colloquium

Background: Non-ischemic cardiomyopathy (NICM), can arise from various causes, including hemodynamic pathology, infections, immunologic abnormalities, toxic injuries, and genetic factors. Determining the prevalence of NICM is challenging due to varying definitions and diagnostic criteria, selection bias, and geographic variation. MYBPC3 is the primary gene known to cause restrictive cardiomyopathy, dilated cardiomyopathy, and left ventricular non-compaction. This gene encodes cMyBP-C, a structural protein of the heart muscle that interacts with actin, myosin, and titin to maintain sarcomeric integrity. While loss-of-function mutations are common, MYBPC3 missense variants of uncertain significance (VUS) are also prevalent. Individuals with MYBPC3 missense VUS predicted to disrupt …


Investigating The Determinants Of Frailty: The Intersection Of Genetics And Environment In Mexican Americans From South Texas, Natasha Garcia-Rodriguez, Vincent P. Diego, Marcio Almeida, Jacob Galan, Sandra Laston, Joanne E. Curran, Tom Howard, Eron Manusov, John Blangero, Sarah Williams-Blangero Sep 2024

Investigating The Determinants Of Frailty: The Intersection Of Genetics And Environment In Mexican Americans From South Texas, Natasha Garcia-Rodriguez, Vincent P. Diego, Marcio Almeida, Jacob Galan, Sandra Laston, Joanne E. Curran, Tom Howard, Eron Manusov, John Blangero, Sarah Williams-Blangero

Research Colloquium

Background: The projected worldwide population of people aged 65 and over is anticipated to hit 1.6 billion by 2050. Frailty, marked by increased susceptibility to adverse health outcomes, mortality, and decreased health-related quality of life (HrQoL), poses significant challenges to an aging population. The Frailty Index (FI), is the ratio of the number of accumulated health deficits to the total number of deficits considered, is used to predict frailty.

Methods: Utilizing data from the Mexican American Family Study, we investigated the heritability and gene-environment (GxE) interactions influencing frailty in 1,029 Mexican American participants. We calculated the FI using 34 variables, …


Pulmonary Fibrosis As A Presentation Of Short Telomere Syndrome: Case Report, Roy Kondapavuluru, Jian Garcia Cruz, Sreejith Pillai, Andres Suarez Parraga Sep 2024

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 …


Pre-Hospital Stroke Time Intervals In The Rio Grande Valley, Kelsey Baker, Elio E. Garcia Sosa Sep 2024

Pre-Hospital Stroke Time Intervals In The Rio Grande Valley, Kelsey Baker, Elio E. Garcia Sosa

Research Colloquium

Background and Introduction: Stroke continues to be a significant cause of mortality in the United States. Despite advancements in acute stroke treatments such as thrombolytic therapy and endovascular procedures, many patients remain unable to benefit from these interventions due to delays in receiving treatment. Healthcare professionals have made substantial efforts to improve 'door to needle' times, the interval between a patient's arrival at the hospital and the administration of thrombolytic therapy, yielding promising outcomes. However, a critical gap persists: the time interval from the onset of stroke symptoms to when patients actually present at a healthcare facility. This study aims …


Unveiling The Impact Of Phosphate On Skeletal Muscle Dysfunction In Chronic Kidney Disease, Hiram Garcia, Sowmya Duddu, Erik Hinojosa, Model Zerfu, Nathaniel L. Alvarez, Mohammad Razzaque, Alex Zuo Sep 2024

Unveiling The Impact Of Phosphate On Skeletal Muscle Dysfunction In Chronic Kidney Disease, Hiram Garcia, Sowmya Duddu, Erik Hinojosa, Model Zerfu, Nathaniel L. Alvarez, Mohammad Razzaque, Alex Zuo

Research Colloquium

Background: Chronic Kidney Disease (CKD) is characterized by progressive decline in renal function that ultimately culminates in the inability of the kidneys to effectively maintain homeostasis. The kidneys are a key regulator of phosphate, with other organs assisting in regulation including the skeletal system. In CKD, reduced kidney function leads to hyperphosphatemia. While its impact on the skeletal system is moderately studied, its effects on skeletal muscle are less reviewed. In our literature review, we aim to describe the effects of phosphate in the context of patients who have CKD while providing clinical context for this deserving population. We describe …


Systemic Biology Approach Linking Type 2 Diabetes And Depression In A Rio Grande Valley Family Study Population, Cameron B. Caldwell, Eron Manusov, Vincent P. Diego, Ana C. Leandro, Sandra Laston, John Blangero, Sarah Williams-Blangero, Marcio Almeida Sep 2024

Systemic Biology Approach Linking Type 2 Diabetes And Depression In A Rio Grande Valley Family Study Population, Cameron B. Caldwell, Eron Manusov, Vincent P. Diego, Ana C. Leandro, Sandra Laston, John Blangero, Sarah Williams-Blangero, Marcio Almeida

Research Colloquium

Background: Type 2 diabetes and depression are major public health concerns that disproportionally impact Mexican Americans. Prevalence of T2D and depression have been estimated as high as 30% and 40%, respectively in Mexican American populations along the Texas-Mexico border. While the interaction between these two phenotypes is well documented, the underlying genetic basis of this interaction remains unclear. Our aims for this project were to identify genes co-expressed in type 2 diabetes and depression to dissect the interaction correlations between both conditions by means of a functional gene expression correlation network.

Methods: A total of 528 Mexican American participants from …


Enriched Environment Contributes To The Recovery From Neurotoxin-Induced Parkinson’S Disease Pathology, Daphne Alcala Zúñiga, Erika Espinoza-Torres, Ranjit Kumar Das, Magaly Vargas, Alejandro Lopez-Juarez, Masoud M. Zarei, Kelsey Baker, Mario Gil, Hansapani Rodrigo, Upal Roy Sep 2024

Enriched Environment Contributes To The Recovery From Neurotoxin-Induced Parkinson’S Disease Pathology, Daphne Alcala Zúñiga, Erika Espinoza-Torres, Ranjit Kumar Das, Magaly Vargas, Alejandro Lopez-Juarez, Masoud M. Zarei, Kelsey Baker, Mario Gil, Hansapani Rodrigo, Upal Roy

Health & Biomedical Sciences Faculty Publications

Parkinson’s disease (PD) is a neurological disorder that affects dopaminergic neurons. The lack of understanding of the underlying molecular mechanisms of PD pathology makes treating it a challenge. Several pieces of evidence support the protective role of enriched environment (EE) and exercise on dopaminergic neurons. The specific aspect(s) of neuroprotection after exposure to EE have not been identified. Therefore, we have investigated the protective role of EE on dopamine dysregulation and subsequent downregulation of DJ1 protein using in vitro and in vivo models of PD. Our study for the first time demonstrated that DJ1 expression has a direct correlation with …


Admixture Mapping Of Cognitive Function In Diverse Hispanic And Latino Adults: Results From The Hispanic Community Health Study/Study Of Latinos, Rui Xia, Xueqiu Jian, Amanda L. Rodrigue, Jan Bressler, Eric Boerwinkle, Biqi Cui, Martha L. Daviglus, Charles Decarli, Linda C. Gallo, John Blangero Sep 2024

Admixture Mapping Of Cognitive Function In Diverse Hispanic And Latino Adults: Results From The Hispanic Community Health Study/Study Of Latinos, Rui Xia, Xueqiu Jian, Amanda L. Rodrigue, Jan Bressler, Eric Boerwinkle, Biqi Cui, Martha L. Daviglus, Charles Decarli, Linda C. Gallo, John Blangero

School of Medicine Publications

Introduction: We conducted admixture mapping and fine-mapping analyses to identify ancestry-of-origin loci influencing cognitive abilities.

Methods: We estimated the association of local ancestry intervals across the genome with five neurocognitive measures in 7140 diverse Hispanic and Latino adults (mean age 55 years). We prioritized genetic variants in associated loci and tested them for replication in four independent cohorts.

Results: We identified nine local ancestry-associated regions for the five neurocognitive measures. There was strong biological support for the observed associations to cognitive function at all loci and there was statistical evidence of independent replication at 4q12, 9p22.1, and 13q12.13.

Discussion: Our …