Life Sciences Commons^™

Dysmorphology Training And Utility In Genetic Counseling, Maria Hernandez, Maria 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 …

Impact Of Genetic Counseling On Patient Empowerment After Diagnosis Of Fetal Anomaly, Carley Brueckner

Dissertations and Theses (Open Access)

Approximately 3-5% of pregnancies are affected by fetal anomalies, often leading to structural and functional differences that impact infant health and mortality. When anomalies are identified on prenatal ultrasound, genetic counseling (GC) and genetic testing may be offered to investigate the potential for a possible syndromic cause. Genetic counselors provide education on the chance for a genetic etiology, available testing options, potential changes in medical intervention related to an identified etiology, and psychosocial counseling and resources. Regardless of a patient’s testing decision, genetic counseling should include psychosocial counseling to support and empower patients in a time of prognostic uncertainty and …

Exploring The Role Of Il-1Β/Il-1r In The Pathogenesis Of K-Ras Mutant Lung Cancer, Avantika Krishna

Dissertations and Theses (Open Access)

As the leading cause of cancer-related deaths worldwide, the development of targeted therapeutics to treat lung cancer remains crucial. Non-small cell lung cancer (NSCLC), the most common histological subtype predominantly comprises lung adenocarcinoma with driver mutations in the K-ras oncogene (KM-LUAD). KM-LUAD progression partly occurs through activation of the NF-κB pathway initiating an inflammatory response and creating a pro-tumor microenvironment. Notably, the pro-inflammatory cytokine IL-1β a potent activator and product of the NF-κB pathway is elevated in the lungs and sera of KM-LUAD patients. We have shown that IL-1β blockade promotes an anti-tumor immune phenotype in a mouse model of …

Histone Lysine Methyltransferase Nsd3 Governs Transcriptional Programs That Drive Pancreatic Neuroendocrine Tumors (Pannets), Mary Esmeralda Fuentes

Dissertations and Theses (Open Access)

Pancreatic Neuroendocrine Tumors (PanNETs) are the most common and lethal neuroendocrine malignancies where treatments used in advanced patients have limited efficacy, adverse side effects, and acquire resistance. Thus, there is a critical need to uncover novel precision therapeutics for PanNET patients. Additionally, pre-clinical models that more accurately represent disease are an urgent necessity for translational studies.

This dissertation directly addresses these challenges by identifying histone lysine methyltransferase (KMT) NSD3 as a critical oncogenic driver of PanNETs through di-methylation of histone H3K36 (H3K36me2).

The findings shown in this body of work indicate that H3K36 methylation by NSD3 functions as a transcriptional …

Motivations And Attitudes For Pursuing Anonymous Genetic Testing For Huntington’S Disease, Jordan Steffen

Dissertations and Theses (Open Access)

Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. However, only a small portion of at-risk individuals complete predictive testing. Concerns of privacy and genetic discrimination have been cited as reasons testing is declined. This leads some to seek anonymous testing, a process in which measures are taken to exclude identifying information, thereby preventing results from being linked to legal names, medical records, or health insurance. Previous research suggests anonymous testing is not widely favored amongst healthcare providers, but patient perspectives have not been described. These studies also precede the implementation of the …

Rna Knockdown Of The Immune Checkpoint Vista Promotes Tumor Regression, Brittany Morrow, Brittany A. Morrow

Dissertations and Theses (Open Access)

Blockade of negative immune regulators for example CTLA-4, and PD-1/PD-L1 has proven to be a clinically effective strategy to enhance tumor specific immune responses. Recently discovered novel immunoglobulin superfamily ligand V-domain Ig suppressor of T-cell Activation (VISTA) is a new target for immunotherapy. VISTA expression is specifically upregulated on tumor infiltrating myeloid cells such as dendritic cells (DCs), tumor associated macrophages (TAMs) and myeloid derived suppressor cells (MDSCs). In addition, VISTA expression is increased on tumor-infiltrating regulatory T cells (Tregs) compared to those in the periphery. VISTA has been shown to suppress effector T cells through multiple mechanisms, primarily by …

Importance Of Specific Nk Cell Subsets For Antitumor Immunity In Hpv+ Cancers, Madison O'Hara

Dissertations and Theses (Open Access)

High-risk type human papillomaviruses (HPV) are associated with genital and oral cancers, and the incidence of HPV+ head and neck squamous cell cancers is fast increasing worldwide. Survival rates for patients with locally advanced disease are poor and variable after standard of care (SOC) treatment. Identifying the antitumor host immune mediators important for treatment response and designing strategies to promote them are essential for improving clinical outcome. The natural killer (NK) cells are a critical component for antitumor innate effector immunity. Among the multitude of activation and inhibitory receptors on immune cells, HLA-DR is recognized as an important activation marker …

Interrogating Therapeutic Resistance To Oncogenic Krasg12c-Based Therapies In Colorectal Cancer, Oluwadara Coker

Dissertations and Theses (Open Access)

Colorectal cancer is the second leading cause of cancer-related deaths and the third most common cancer in the United States. Although KRAS is mutated in 50% of patients with metastatic CRC (mCRC), it has historically been a challenging therapeutic target. The recent approval of novel covalent inhibitors selective for KRASG12C mutation have entered the clinic, which has not only marked a major milestone in cancer drug discovery but has also intensified efforts to directly target other KRAS mutations that have also successfully entered the clinic. However, treatment-associated resistance mechanisms have long threatened to attenuate clinical benefit through either adaptive or …

Biophysical Model Of Retraction Motor Neurons And Their Modification By Operant Conditioning, Maria Rasheed

Dissertations and Theses (Open Access)

Operant conditioning (OC) is a form of associative learning in which an animal modifies its behavior based on the consequences that follow that behavior. Despite its ubiquity, the underlying mechanisms of OC are poorly understood. Insights into the mechanisms of OC can be obtained by studying Aplysia feeding behavior as it can be modified by OC. This behavior is mediated by a central pattern generator (CPG) network in the buccal ganglia that contains a relatively small number of neurons. This CPG generates rhythmic motor patterns (BMPs) that move food into the gut by closing a tongue-like structure (i.e., radula) during …

Syntaxin-3 Mediates Baseline And Stimulated Mucin Secretion, Brianne Wharton

Dissertations and Theses (Open Access)

There are two rates at which airway epithelial cells secrete mucin. The low baseline rate accounts for ciliary clearance, and the high stimulated rate obstructs airways in protection from helminths or in obstructive pulmonary diseases. The exocytosis of mucins occurs via the four-helix SNARE complex. The SNARE proteins contributing helices are the vesicle-SNARE VAMP, and the target-SNAREs SNAP and Syntaxin. Coiling of the complex fuses the granule and plasma membranes to release mucins into the extracellular space. The VAMP and SNAP isoforms mediating baseline and stimulated secretion are known, but the Syntaxin (Stx) isoform remains unknown.

Three candidate exocytic Stx, …

Structural And Functional Studies Of Ascc1 In Dna And Rna Alkylation Damage Response, Naga Babu Chinnam

Dissertations and Theses (Open Access)

Alkylating agents from environmental, endogenous, and certain chemotherapeutic sources constantly challenge cellular nucleic acids. Repairing the damage caused by alkylation is necessary for maintaining genomic stability. ALKB family Human Homolog ALKBH3 plays a key in repairing alkylated damages in DNA and RNA molecules. Activating signal co-integrator complex 1 (ASCC1) acts with ASCC-ALKBH3 complex in alkylation damage responses. ASCC1 uniquely combines two evolutionarily ancient domains: nucleotide-binding K-Homology (KH) (associated with splicing, transcriptional regulation, and translational control) and two-histidine phosphodiesterase (PDE) (associated with hydrolysis of cyclic nucleotide phosphate bonds). Germline mutations link ASCC1 loss of function to spinal muscular atrophy with congenital …

Development Of Systems For Processing And Managing Donations For The William A. Burnard Warming Center, Landon Corbett

Undergraduate Honors Capstone Projects

Structure is important for any organization to have success and grow. Thus, having a good inventory system can make a huge difference. This project set out to investigate and develop a system that would be able to monitor incoming donations, inventory levels, and items given away to guests. The inventory method needed to be as automated as possible because the warming center volunteers were already busy with other responsibilities.

While many softwares were researched, my proposed solution was created with a combination of Google Sheets and Google Forms, as it is free and can be customized to the specific needs …

Locally Injectable Peptide Hydrogel For Conversion Of Temozolomide And Codelivery Of Sirna In Glioblastoma Multiforme Treatment, Megan Pitz

All Dissertations

Traditional treatment methods for glioblastoma multiforme (GBM) are largely unsuccessful, with a 5-year survival rate of 5.6%. Temozolomide (TMZ), the only chemotherapy FDA-approved for GBM treatment, is a hydrophobic prodrug that is stable in an acidic pH and begins converting to its active form at a physiological pH of 7.4. However, complete conversion of TMZ is observed only at a higher pH, and only about 30% of administered TMZ reaches the central nervous system. Therefore, there is a need for new treatment methods that maximize TMZ delivery to and efficacy at the tumor site. Self-assembling peptides are a unique class …

Phylogenetics And Biogeography Of Appalachian Trechus (Coleoptera: Carabidae), Patricia Wooden

All Dissertations

Insects have long been used as tools for understanding the health of the natural world and how changes to climate, landscape, and human interaction have affected the communities those environments support. The Appalachian Mountains, located in eastern North America, is the oldest mountain range on the continent, and during its lifespan it has supported an abundance of microhabitats and endemic species to fill them. Conservationists must balance the need to preserve the diversity that is known and continue to explore the region for new taxa, often with limited budget and expertise. A genus of small carabids, Trechus Clairville, may aid …

Single Cell Pharmacodynamic Modeling Of Cancer Cell Lines, Arnab Mutsuddy

All Dissertations

Cancer is one of the leading causes of disease related death worldwide. Since the discovery of the genomic origins of cancer, targeted therapy has been developed towards specific mutations implicated for oncogenic transformation. However, current standard-of-care for mapping cancer patients to efficacious drug combination is often inadequate. The pathophysiology of tumor progression relies on the dysregulation of biomolecular pathways of which the topology and the dynamics challenge prognosis. Moreover, the overall genomic instability involved in disease states and the resulting inter-patient as well as intra-tumoral heterogeneity challenge rationalization of therapy and clinical decision-making. It highlights the need for the use …

Ecology And Integrated Pest Management Of Major Insect Pests Of Field Corn, Tim Bryant

All Dissertations

In the southeastern United States, the brown stink bug, Euschistus servus (Say), and the southern green stink bug, Nezara viridula (L.) (Hemiptera: Pentatomidae), are common economic pests of corn, Zea mays L. (Poaceae: Poales). Although commonly found, the corn earworm, Helicoverpa zea (Boddie) (Lepidoptera: Noctuidae), is generally not an economic pest and is managed with transgenic corn hybrids expressing toxins produced by the Bacillus thuringiensis (Bt). Resistance to Bt toxins is a major thread to the sustainability of Bt crops. Understanding the ecology of stink bugs and corn earworms in field corn can help to effectively implement integrated pest management …

Toxicokinetics And Toxicodynamics Of Radium-226 In An Estuarine Sentinel Species Geukensia Demissa, Sarah Donaher

All Dissertations

The historical use of radioluminescent objects, most notably those containing radium-226 (²²⁶Ra)-based paint, has contributed to contemporary environmental contamination of radioactive material, often near naval installations or other military-associated coastal sites. The risk to both human and environmental health from this small-scale, discrete radioactive material is challenging to predict due to large uncertainties in the source terms, bioavailability, and toxicity of these objects. The objective of this study was to provide information on the accumulation and toxicity of acute ²²⁶Ra exposure in a sentinel species to improve risk assessments for small-scale, coastal radiological contamination. The sentinel species …

Examining Context Dependency Of Invasion Hypotheses At The Continental Scale Using Riverine Fish Communities, Lily Thompson

All Dissertations

Many well-supported hypotheses seek to explain invasion dynamics, but evidence for common patterns among regions and taxa remains inconclusive and often contradictory. Invasion ecology is fundamentally linked to spatial scale, and discrepancies in results among invasion studies may be attributed, in part, to a failure to fully consider scale dependency. In this dissertation, I investigate the sources of inconsistencies across spatial scales and large geographic extents using riverine fish communities across the conterminous United States. To do so, I tested three main ideas. First, that cross-scale interactions contextualize estimated invasion mechanisms among regions. My results demonstrate that local empirical support …

Exploring Novel Nutrient Acquisition Mechanisms For Maintaining Energy Metabolism In Toxoplasma Gondii, Melanie Key

All Dissertations

Toxoplasma gondii is an infectious intracellular parasite that establishes infection within various mammalian hosts, including humans. Toxoplasma infects approximately one-third of the global population, making it an impactful pathogen of study. T. gondii is the causative agent of toxoplasmosis, an opportunistic infection that causes severe illness or fatality in immunocompromised individuals or pregnant women. The parasite possesses a very effective invasion strategy, allowing it to cross different tissue types to disseminate infection across the placental and blood-brain barrier. Although there are a few treatments for acute toxoplasmosis, these drugs can produce adverse side effects. These options are not effective against …

Communication Of Oncology Genomics: Patients, Providers, And Artificial Intelligence, Lisa Stewart

All Dissertations

ABSTRACT This dissertation comprises five chapters concentrated on the communication of molecular profiling (MP) results between patients with cancer and oncology providers. Chapter I introduces MP and describes the significance of this testing. Chapter II is a state-of-the-art literature review focused on cancer patients’ expectations, knowledge, attitudes, satisfaction, and concerns regarding MP. Nineteen articles were reviewed, and findings revealed gaps in the communication process between patients and clinicians. Chapter III is a case study entitled “A Case for Caution: Patient Use of Artificial Intelligence.” In this case, pitfalls become apparent when a patient utilizes an artificial intelligence (AI) chatbot as …

Evolution And Biogeography Of High Appalachian Rove Beetles (Staphylinidae), Adam Haberski

All Dissertations

The southern Appalachian Mountains are a region of great species richness and a center of endemism in many taxa, including flightless arthropods. High elevation refugia have facilitated the persistence of ancient lineages (paleoendemism) and in situ speciation (neoendemism), but their ubiquity, timing, and relative importance is unknown. Congruent patterns among co-distributed, but independent taxa might illuminate common drivers of Appalachian endemism. In this dissertation, I investigated the influence of allopatric speciation, geography, and paleoclimate events on the diversification of endemic species in two genera of rove beetles (Coleoptera, Staphylinidae), Lathrobium Gravenhorst and Ischnosoma Stephens, using an integrative morphological and molecular …

Assessing Consumer Willingness To Pay For Zinc-Biofortified Rice – The Case Of Colombia, Sara Ann Oswalt

Graduate Theses and Dissertations

Hidden hunger, a form of undernourishment caused by micronutrient deficiencies, remains a critical global challenge affecting billions worldwide. Biofortification of staple crops, such as rice, offers a promising solution to address this problem. However, changes in the physical and culinary characteristics due to biofortification may hinder consumer acceptance and limit the benefits of this approach. This research explores consumer preferences and willingness to pay (WTP) for zinc-biofortified rice in Cartagena, Colombia. A non-hypothetical experimental auction, including 400 consumers in five different locations within Cartagena, was conducted to analyze the impact of information, socioeconomic factors, and consumer nutrition knowledge on WTP …

Consequences Of The Megafauna Extinction: Changes In Food Web Networks On The Edwards Plateau Across The Pleistocene–Holocene Transition, Quentin A. Smith Jr.

School of Biological Sciences: Dissertations, Theses, and Student Research

We are experiencing biodiversity loss due to climate change and human impacts, which is not only harmful to the environment but can also alter the composition of communities and interactions among species. The late Pleistocene experienced a loss of large-bodied mammals which resulted in significant changes in community structure due to changes in body size, diet, and species associations. The impact of these changes on species interactions and community structure across the Pleistocene-Holocene transition remains poorly understood. Using a robust data set of species composition, stable isotopes, body size, and climate variables, we constructed and compared ecological networks of mammal …

The Impact Of A Pgym Variant On Myophosphorylase Deficiency In Red Angus Composite Cattle And Changes In The Skeletal Muscle Transcriptome Due To The Intramuscular Administration Of Lidocaine In Wether Lambs, Mackenzie Christin Batt

School of Biological Sciences: Dissertations, Theses, and Student Research

Project 1 focused on eight calves in a Nebraska herd (composite Simmental, Red Angus, Gelbvieh) that displayed exercise intolerance during forced activity. Available sire pedigrees contained a paternal ancestor within 2-4 generations in all affected calves. Pedigrees of the calves’ dams were unavailable, however, the cows were ranch-raised and retained from prior breeding seasons, where bulls used for breeding occasionally had a common ancestor. Therefore, it was hypothesized that a de novo autosomal recessive variant was causative of exercise intolerance in these calves. A genome-wide association analysis followed by whole-genome sequencing led to the identification of a variant in the …

Bootstrapping For Estimating The Conservative Kill Ratio Of The Surrogate To The Pathogen For Use In Thermal Process Validation At The Industrial Scale, Arshpreet Kaur Khattra, Surabhi Wason, Kevin Thompson, Andy Mauromostakos, Jeyamkondan Subbiah, Jennifer C. Acuff

Food Science Faculty Publications and Presentations

A surrogate is commonly used for process validations. The industry often uses the target log cycle reduction for the test (LCR_Test) microorganism (surrogate) to be equal to the desired log cycle reduction for the target (LCR_Target) microorganism (pathogen). When the surrogate is too conservative with far greater resistance than the pathogen, the food may be overprocessed with quality and cost consequences. In aseptic processing, the Institute for Thermal Processing Specialists recommends using relative resistance (D_Target)/(D_Test) to calculate LCR_Test (product of LCR_Target and relative resistance). This method uses the mean values …

Exploring Available Information On The Gut-Brain Axis And Alzheimer’S Disease For Clinicians Making Dietary Recommendations: A Scoping Review, Megan Gibson

Electronic Theses and Dissertations

Abstract: Alzheimer’s Disease (AD) is a complex neurodegenerative disease that requires interprofessional collaboration. Pharmacological options are currently ineffective, increasing the need for preventative strategies to combat the rise of AD. Considerations of gut-targeted interventions have increased as a key component in the prevention of AD, based on the understanding that the state of the gut microbiome can impact cognitive function through the pathway known as the gut-brain axis.

Methods: This scoping review explored information on the gut-brain axis in persons with AD. A comprehensive search was conducted in November 2023. Forty reviews and 13 human studies were analyzed.

Results: There …

A Precious Gift: A Reflection And Resource On Water Quality And Sustainability, Mark Potosnak, Andrew Panelli, Adrienne Kalmes, Antonio Quintanilla, Dr. George Nassos, Michael Terrien, Obl. Osb

College of Science and Health Faculty and Staff Works

This reflection, prepared by Illinois Catholics concerned with the intersection of faith, environmental stewardship, and social justice, explores the theological, moral, and practical dimensions of water quality and sustainability in the state. Rooted in Scripture, and Catholic liturgy and tradition, it affirms water as a sacred gift, essential for life and a universal human right. Drawing on Catholic social teaching and Pope Francis’ Encyclical Laudato Si’: On Care for Our Common Home, it examines pressing water challenges in Illinois, including contamination from coal ash, nitrates, PFAS, and lead, as well as infrastructure, affordability, and sustainability concerns. The document offers an …

Project Foresight Annual Report, 2022-2023, Paul Speaker

Faculty & Staff Scholarship

Project FORESIGHT is a business-guided self-evaluation of forensic science laboratories across the globe. The participating laboratories represent local, regional, state, and national agencies. Economics, accounting, finance, and forensic faculty provide assistance, guidance, and analysis. Laboratories participating in Project FORESIGHT have developed standardized definitions for metrics to evaluate work processes, linking financial information to work tasks, and functions. Laboratory managers can then assess resource allocations, efficiencies, and value of services—the mission of Project FORESIGHT is to measure, preserve what works, and change what does not.

The benchmark data for the 2022-2023 performance period includes laboratory submissions for a variety of fiscal …

Influence Of The Atlantic Inflow On Trace Metal Enrichments In Sediments And Particulate Matter Of The Nw Alboran Sea (Sw Mediterranean), Albert Palanques, Pere Puig, Pere Masqué, Enrique Isla

Research outputs 2022 to 2026

Trace metal contents and fluxes in downward particulate matter and dated sediment cores of the NW Alboran Sea are analysed in this study with the aim of assessing the role of the Atlantic inflow on their transport. Increases in Zn, Cu and Pb were detected in downward particulate matter collected by sediment traps after river flooding events and after the Aznalcollar mining spill. Their arrival coincided within the recently estimated time range for river particles discharged into the Gulf of Cádiz to reach the Alboran Sea, indicating that their transfer is enhanced during events of increased river inputs of contaminated …

Defining The Phylogenetics And Resistome Of The Major Clostridioides Difficile Ribotypes Circulating In Australia, Keeley O’Grady, Stacey Hong, Papanin Putsathit, Narelle George, Christine Hemphill, Peter G. Huntington, Tony M. Korman, Despina Kotsanas, Monica Lahra, Rodney Mcdougall, Andrew Mcglinchey, Avram Levy, Casey V. Moore, Graeme Nimmo, Louise Prendergast, Jennifer Robson, David J. Speers, Lynette Waring, Michael C. Wehrhahn, Gerhard F. Weldhagen, Richard M. Wilson, Thomas V. Riley, Daniel R. Knight

Research outputs 2022 to 2026

Clostridioides difficile infection (CDI) remains a significant public health threat globally. New interventions to treat CDI rely on an understanding of the evolution and epidemiology of circulating strains. Here we provide longitudinal genomic data on strain diversity, transmission dynamics and antimicrobial resistance (AMR) of C. difficile ribotypes (RTs) 014/020 (n=169), 002 (n=77) and 056 (n=36), the three most prominent C. difficile strains causing CDI in Australia. Genome scrutiny showed that AMR was uncommon in these lineages, with resistance-conferring alleles present in only 15/169 RT014/020 strains (8.9 %), 1/36 RT056 strains (2.78 %) and none of 77 RT002 strains. Notably, ~90 …