Life Sciences Commons^™

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum And Novel Clinical Observations In 241 Patients, Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurizio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J. F. Boon, Jonathan Hensman, Ta-Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John R. Grigg, Robyn V. Jamieson, Elisa E. Cornish, Benjamin M. Nash, Shyamanga Borooah, Lauren N. Ayton, Alexis Ceecee Britten-Jones, Thomas L. Edwards, Jonathan B. Ruddle, Abhishek Sharma, Rowan G. Porter, Tina M. Lamey, Terri L. Mclaren, Samuel Mclenachan, Danial Roshandel, Fred K. Chen

Wills Eye Hospital Papers

PURPOSE: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.

METHODS: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT. Images were graded into six phenotypes. Statistical analyses were performed to determine genotype-phenotype correlations.

RESULTS: The median age at symptom onset was 40 years (range, 4-78 years). FAF phenotypes included normal (5%), butterfly pattern dystrophy, …

Ncaa Di Student-Athletes’ Understanding Of And Attitudes Toward Mental Performance Services, Allison Rudisill

Honors Theses

Mental performance services are designed to assist student-athletes with psychological challenges affiliated with performance (McHenry et al., 2022). Currently, only 65 NCAA DI athletic institutions employ a psychological provider, with only 23.2% of those being mental performance consultants (MPCs; Jones et al., 2022). As student athletes are aware of the mental demand of sport (Bemiller & Wrisberg, 2011) and the NCAA begins to bring awareness to the importance of the mental well-being of the athlete (NCAA Transformational Committee, 2023), it is important to understand student athletes’ attitudes toward these services. Therefore, the purpose of this study was to learn about …

Year-Round Co2 Emissions From The Drawdown Area Of A Tropical Reservoir: Strong Seasonal And Spatial Variation, Ícaro Barbosa, José R. Paranaíba, Sebastian Sobek, Sarian Kosten, Rafael M. Almeida, Vitor Duque, Natália Mendonça, Nathan Barros, Raquel Mendonça

School of Earth, Environmental, & Marine Sciences Faculty Publications

Highlights

• Drawdown areas emitted 80% of reservoir CO2 with just 1/5 area.

• Emissions from reservoir shorelines near forests were greater than from areas near grassland.

• CO2 emissions increase with the distance from the water.

• Estimates of reservoir drawdown CO2 flux vary by ∼ 300 % across the seasons examined here.

• There was no discernible difference in CO2 emissions between day and night-time.

• A significant increase in CO2 fluxes was observed 30 min after a rewetting event.

Abstract

A growing body of literature points to drawdown areas as important sources of atmospheric CO2 within reservoirs. Yet seasonal and temporal patterns of …

Mast Cells In Mammary Carcinoma, Alexandria M. Ashbaugh

Undergraduate Honors Theses

Breast cancer (BC) is an aggressive disease that takes the lives of thousands of women every year. Although knowledge and treatment of this disease have improved over the years, much is still to be discovered about BC. One area of expertise that we are currently trying to learn more information about is the mast cell (MC) and its role in BC growth and development. The MC is an immune system component discovered in tumors' extracellular matrix (ECM). As a tumor grows within body tissues, the tumor recruits the MC from surrounding connective tissues to the tumor, using signaling cytokines such …

Cannibals, Chemicals, And A Trip Down Memory Lane: Unraveling Our Understanding Of Memory, Yana Honcharuk

Scientific Kenyon: The Neuroscience Edition

Have you ever wished to preserve a memory forever? Or perhaps share a treasured memory with someone? Instead of having to look for words that could describe how you felt at the concert of your favorite band or at that first date with a person you’ve been pining for, wouldn’t it be nice to have the ability to transmit those experiences to your friends? To make them feel how you felt? While this sounds like a plot for another rendition of Eternal Sunshine of The Spotless Mind, or a chapter from Harry Potter, the scientific idea of memory transfer has …

Plastic Pollutants To The Brain: Wrong Kind Of Plastic For The Nervous System, Caleigh Wukitch

Scientific Kenyon: The Neuroscience Edition

The plastic revolution is here: we store our food in plastic containers, walk around with our coffee in plastic cups, and sit all day in our plastic chairs. We also know that our plastic waste floats around poisoning waters, cluttering streets, and choking wildlife. But it may be doing so much more than we realize - what if it is rewiring our nervous system?

Woop-Woop! That's The Sound Of Da Immune System: A Story Of Tricky Trypanosomes That Evade The Immune System To Get Into The Brain, Sophia Knaysi

Scientific Kenyon: The Neuroscience Edition

No abstract provided.

Brains Vs. Brawn- Why Not Have Both? The Cognitive Effects Of Creatine Supplementation, Riley Orth

Scientific Kenyon: The Neuroscience Edition

In books, movies, and TV shows, there is a common trope that associates large, muscular people with an impressive, and often comedic lack of brain power. Of course, we know that this is not exactly the case in the real world, but are the two somehow related? What if there was some magical substance that had the potential to not only increase muscular size and strength but also the potential to improve brain function? Fortunately for us, this supplement exists and it is known as creatine.

Friends To Lovers: It's More Than My Favorite Book Trope, Smrami Patel

Scientific Kenyon: The Neuroscience Edition

No abstract provided.

All You Need Is... Netflix And Chill? The Neuroscience Of Sexual Behavior And Hookup Culture, Megan Quinn

Scientific Kenyon: The Neuroscience Edition

No abstract provided.

Evaluating A Short Duration Relationship And Marriage Education (Rme) Event Across Time And Format: 8 Years Of Learning, Pamela B. Payne, Naomi Brower

Journal of Human Sciences and Extension

The COVID-19 pandemic changed how short-term relationship and marriage education (RME) reached participants for events such as the Utah Marriage Celebration Conference. This article examines participant-perceived relationship knowledge from an annual marriage conference that began prior to the pandemic and has continued through the disruption (from 2015 through 2022). Results indicate this short-duration marriage conference does improve participant-perceived knowledge across years [t(2381) = 59.84, p = .001]. Further, results indicate that online participants rate their perceived relationship knowledge as higher than in-person participants at both pre [F(1, 2752) = 153.0, p = .001] and post [F(7, 2594) = 25.14, p …

Molecular Mechanisms Of Opioid Use Disorder In Human Brain Models, Emily Mendez

Dissertations and Theses (Open Access)

Opioid use disorder (OUD) is a national and global public health crisis with no end in sight. While studies from animal models hint at widespread epigenetic and transcriptomic alterations of opioid drugs, the molecular consequences of long-term exposure to opioid drugs in human brain is still unclear, and human-centered translational models are necessary to discern the human cell type-specific effects of OUD.

Using postmortem brain Brodmann area 9 (BA9) from the UTHealth Brain Collection for Research on Psychiatric Disorders, I identified angiogenic gene networks perturbed in the RNA and protein of OUD subjects, as well as downregulation of many neuron-correlated …

Novel Roles Of Microtubule-Associated Tau In Radiation-Induced Brain Injury, Riya Thomas, Riya Thomas

Dissertations and Theses (Open Access)

Injury responses in cells lacking proliferation capacity such as terminally differentiated neurons consists of complex mechanisms to ensure cellular homeostasis. Brain tumor patients undergoing radiation therapy experience cognitive impairments similar to those seen in patients suffering from neurodegenerative diseases. Despite the plethora of research into radiation effects on proliferating brain cells, the impact of radiation on differentiated, post-mitotic neurons, including their structural and functional alterations, remain largely elusive. However, microtubule-associated tau, an important partner of cytoskeletal structural stability emerges as a pivotal player in the radiation-induced neuronal injury response, demonstrating compartmentalized functions such as repair-centric mechanisms and synaptic homeostasis. This …

The Influence Of Environmental Conditions On Gordonia Terrae -Specific Bacteriophage Distribution And Diversity, Gt M. Moore

Biology Theses

Bacteriophages are viruses that infect a diverse range of bacteria, with certain strains serving medical and industrial significance. Actinobacteriophages are viruses that specifically infect Phylum Actinobacteria hosts including the environmentally abundant Gordonia terrae. Some species of Gordonia, including G. terrae, have also been isolated from human infections. The isolation and characterization of novel phages that can infect Gordonia can therefore be significant to both genomics and potential phage therapy. Actinobacteriophages that infect these bacteria have been isolated from soil environments, but optimal environmental parameters for isolation have not been fully evaluated. This study examined the relationships between environmental …

Flood Timing And Flood Loss Impact On Effectiveness Of Florpyrauxifen-Benzyl Coated On Urea In Rice, Bodie L. Cotter, Jason K. Norsworthy, Thomas R. Butts, Trenton L. Roberts, Andy Mauromostakos

Crop, Soil and Environmental Sciences Faculty Publications and Presentations

Florpyrauxifen-benzyl has generated complaints and concerns around rice injury and off-target movement to soybean since its commercial launch in 2018. Developing a precise method for applying florpyrauxifen-benzyl was imperative for its continued use. Experiments were conducted in 2020 and 2021 to evaluate rice weed control as influenced by preflood application interval and flood loss following florpyrauxifen-benzyl at 30 g ai ha⁻¹ applied as a spray or coated on urea. In a preflood application experiment, coating florpyrauxifen-benzyl on urea and applying it the day of flood establishment and 5 and 10 d prior to flooding (DPTF) resulted in lower yellow …

Enhancement Of Favipiravir With Compound X In A Hamster Model Of Yellow Fever Virus Infection, Hunter Stanger

Undergraduate Honors Capstone Projects

Yellow fever virus (YFV) has long been a worldwide health concern, and recent outbreaks in South America and Africa have resulted in significant mortality. There is currently an effective vaccine to prevent infection, but there are no currently developed antiviral drugs to treat patients that have already contracted the disease. Because of this, an effective antiviral is needed to combat unanticipated cases or emergence in areas that have previously been unaffected by this virus. A drug called favipiravir has shown promising results previously. This compound acts as a nucleoside analog to halt the replication of the virus and stop infection. …

The Role Of Anti-Viral Immune Response On The Therapeutic Efficacy Of Oncolytic Virotherapy For High-Grade Gliomas, Dong Ho Shin Phd

Dissertations and Theses (Open Access)

Currently, there is no effective treatment for high-grade gliomas that are resistant to conventional treatments and immune checkpoint blockade therapies. Oncolytic viruses offer a new treatment modality by selectively replicating in cancer cells and inducing anti-tumor immunity. Among these viruses, the oncolytic adenovirus Delta-24-RGD has shown safety and efficacy in clinical trials for high-grade gliomas. Strategies to improve the efficacy of oncolytic virotherapy have aimed to heighten the immunogenicity of oncolytic viruses, either by incorporating immune-stimulating transgenes or by combining treatments with immune checkpoint blockades. However, such strategies may inadvertently trigger heightened immune responses to viral antigens, which may not …

Identification Of The Phosphatase Nudt5 As A Target For The Treatment Of Triple Negative Breast Cancer, Jing Qian

Dissertations and Theses (Open Access)

Abstract

Background: Triple-negative breast cancer (TNBC) is the most malignant subtype of breast cancer, characterized by the absence of estrogen receptor (ER) and progesterone receptor (PR) expression, as well as the lack of overexpression of the human epidermal growth factor receptor 2 (HER2). Unlike ER-positive and HER2-positive tumors that can be treated with hormone therapy or HER2-targeted treatment, respectively, triple-negative breast cancer (TNBC) poses a challenge with limited treatment alternatives for affected women. The currently FDA-approved systemic regimens for TNBC patients remain as conventional chemotherapy and PARP inhibitors (only applicable for a subset of BRCA-mutated TNBC patients). Consequently, our …

Epigenetic Modification As A Therapeutic Target In Brafv600e-Mutated Metastatic Colorectal Cancer, Hey Min Lee

Dissertations and Theses (Open Access)

Patients with BRAF^V600E-mutated metastatic colorectal cancer (mCRC) experience a worse prognosis and demonstrate only a 5% response rate to BRAF inhibitor treatment. In this study, adaptive resistance, and a potential combination of standard therapies in BRAF^V600E CRC were unveiled. Intriguingly, a robust association of BRAF^V600E mutation and DNA hypermethylation suggests this is a unique subgroup harboring aberrant epigenetic phenotype. Firstly, DNA methyltransferase (DNMT) inhibitor treatment induced profound DNA hypomethylation in vivo, but minimal change in gene expression due to adaptive elevation of the repressive histone methylation, H3K27me3, leading to compensatory suppression of key tumor suppressor genes, …

Loss Of Ptdss1 In Tumor Cells Improves Anti-Pd-1 Therapy, Jielin Liu

Dissertations and Theses (Open Access)

PTDSS1 (Phosphatidylserine synthase 1) encodes an enzyme that facilitates production of phosphatidylserine (PS), which mediates a global immunosuppressive signal. Here, based on in vivo CRISPR screen, we identified PTDSS1 as a target to improve anti-PD-1 therapy. Depletion of PTDSS1 in tumor cells increased expression of IFNγ-regulated genes, including B2m, Cxcl9, Cxcl10, and Stat1. Loss of PTDSS1 in tumor cells also led to increased expression of MHC-I, which was associated with increased expression of cytolytic function related genes in CD8⁺ T cells and increased frequency of an iNOS⁺ myeloid subset. A gene signature derived from the iNOS⁺ myeloid …

Patient Preferences For Ultrasound Soft Sign Disclosure With Prior Negative Cfdna Screening, Disha Patel

Dissertations and Theses (Open Access)

Soft signs are nonstructural fetal anomalies that can be identified by the second-trimester comprehensive ultrasound examination. In isolation, soft signs are insufficient to diagnose chromosome conditions but can adjust an individual's risk for aneuploidy, primarily Down syndrome. In the age of noninvasive cell-free DNA (cfDNA) prenatal screening, which exhibits superior sensitivity and specificity for aneuploidy compared to what can be provided by soft sign risk adjustment, the utility of these soft signs is arguably waning. Thus, this study aimed to establish patient preferences for whether and how soft signs are disclosed in pregnancy to inform recommendations for disclosure. A survey …

Acute Pain Prediction In Oral Cavity And Oropharyngeal Cancer Patients Receiving Radiation Therapy, Vivian Salama

Dissertations and Theses (Open Access)

Oral-Cavity and oropharyngeal cancers (OC/OPC) are types of head and neck cancers that are increasing in incidence domestically. Radiation therapy (RT) is crucial in OC/OPC management. Pain is a common and challenging symptom for most patients during therapy, as nearly all patients undergoing locoregional RT in OC/OPC require analgesia for acute iatrogenic pain. Moreover, about 45% of long-term survivors report chronic pain, with more than 10% exhibiting severe chronic pain. Pain control is challenging due to the multifactorial clinical, molecular, and cellular etiology of cancer/therapy pain, as well as variation in pain assessment and the non-uniform management of pain between …

Patient Understanding Of Fetal Sex Versus Gender In The Context Of Routine Cell-Free Dna Screening, Mindy Kolodziejski

Dissertations and Theses (Open Access)

Non-invasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA (cfDNA). NIPT screens for sex chromosome aneuploidies (SCAs) and in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients refer to NIPT as “the gender test” and elect testing in order to find out predicted fetal sex and assume gender. Our study aimed to evaluate and describe patient understanding of sex and gender in the context of receiving routine prenatal genetics education (PGE) on NIPT. A survey was developed with the goal of assessing patient …

Influential Factors For Disclosing A Tuberous Sclerosis Complex Diagnosis To Romantic Partners, Laura Gorecki

Dissertations and Theses (Open Access)

Tuberous sclerosis complex (TSC) is a highly variable genetic condition characterized by multi-organ tumor predisposition. Due to the heritability, variability, and severity of this condition, individuals with TSC may face unique psychosocial challenges in dating and romantic relationships, specifically related to disclosing their diagnosis to romantic partners. Despite disclosure within romantic relationships being explored in the context of other genetic conditions, this area has not yet been explored in the TSC community who face unique challenges related to physical and mental health, educational performance, and overall quality of life. This study surveyed 117 independent adults with TSC regarding the following …

Efficacy Of Genetic Testing Methodologies For Prenatal Detection Of Skeletal Anomalies And Craniosynostosis Syndromes, Nicolette Murphey

Dissertations and Theses (Open Access)

Prenatal ultrasound findings suggestive of skeletal dysplasia often have a wide differential with over 450 skeletal dysplasia syndromes described to date. Specific phenotypic features on ultrasound provide guidance, though we noted in this study that molecular testing is most informative in making a diagnosis. Prenatal genetic testing ranges from screening tests using cell-free fetal DNA to diagnostic tests which include next generation sequencing panels and whole exome or genome sequencing. We aimed to determine which prenatal genetic tests were capable of identifying disease causing variants in pregnancies suspected to have skeletal dysplasia and craniosynostosis syndromes. This multi-center retrospective chart review …

The In4mer Crispr/Cas12a Multiplex Knockout Platform And Its Applications, Nazanin Esmaeili Anvar

Dissertations and Theses (Open Access)

Discovering synthetic lethal interactions between genes holds the key to uncovering cancer vulnerabilities, enabling the development of more effective drugs for patients. However, identifying these vulnerabilities in the complex genome of human, which comprises thousands of genes, poses a significant challenge. One alternative approach to investigate these interactions involves exploring enriched sources of synthetic lethal interactions, such as paralog pairs. In recent years, a couple of studies have conducted dual-gene knockout experiments on paralog pairs using different approaches to identify synthetic lethal interactions. In this study, we conducted a meta-analysis of CRISPR genetic interaction screens. We identified a candidate set …

Mapping The Neural Circuits That Underlie Metabolic Vs. Emotional Regulation Of Food-Seeking Behavior, Xu Zhang

Dissertations and Theses (Open Access)

Flexibly adjusting food-seeking behaviors based on metabolic needs and environmental threats is crucial for animal survival. In humans, maladaptive food-seeking behaviors that contravene energy homeostasis, which is often driven by food-associated cues with hedonic reward values, lead to obesity and eating disorders. However, the neural mechanisms underlying the modulation of cued food-seeking behaviors by distinct metabolic and threat states remain elusive. Using an approach-food vs. avoid-predator threat conflict test in rats, we identified a subpopulation of neurons in the anterior portion of the paraventricular thalamic nucleus (aPVT) which express corticotrophin-releasing factor (CRF) and are preferentially recruited to respond to food …

Dysmorphology Training And Utility In Genetic Counseling, Maria G. Hernandez

Dissertations and Theses (Open Access)

Before the availability of comprehensive genetic testing, dysmorphology was critical for developing a differential for individuals suspected of having a genetic disorder. Literature suggests that the availability of whole exome and whole genome sequencing (ES/GS) has shifted the use of dysmorphology from a forward to backward approach. There is no literature describing the continued use of dysmorphology within the genetic counseling field or the training that genetic counseling students receive. The study aims to describe the dysmorphology training that genetic counselors (GC) and GC students reported receiving, to explore the involvement of GCs in evaluating dysmorphic features and identify factors …

Inclusion Of Adoption As A Pregnancy Management Option In Prenatal Genetic Counseling Practice, Emma Billings

Dissertations and Theses (Open Access)

Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management options consisting of parenting, abortion, and adoption. The landscape of adoption education in genetic counseling practice was last characterized in 2010 by Perry and Henry, revealing substantial variability in both the inclusion of adoption-specific education in genetic counseling program (GCP) curricula and the discussion of pregnancy options with patients in prenatal practice. As a result, the authors published a call to action …

Fraud In Genetic Testing: Swindling The System, Rachel Notestine, Rachel Notestine, Claire N. Singletary

Dissertations and Theses (Open Access)

Healthcare fraud comprises a sizable portion of the United States healthcare expenditure and inflicts strain on payors, patients, and the healthcare system overall. The genetic testing industry is rapidly growing which provides a multitude of fraud opportunities. There is limited research exploring genetic testing fraud, although federal organizations have highlighted it as an issue. In this study, a retrospective review of federal websites, news articles, and a legal database identified 42 cases of fraud involving outpatient genetic testing published between February 2019 and December 2023. These cases were analyzed for themes via inductive conventional content analysis. Themes of fraudulent activity …