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Analyzing The Effects Of Land Use, Land Cover, And Infrastructure On Water Quality Standards Within The Itasca And St. Louis Moraine Region Of Minnesota., Jamesguy Gierisch May 2024

Analyzing The Effects Of Land Use, Land Cover, And Infrastructure On Water Quality Standards Within The Itasca And St. Louis Moraine Region Of Minnesota., Jamesguy Gierisch

Theses and Dissertations

The river and lake systems in the United States are essential to commerce and human existence. A study of the water quality of the upper Mississippi River watershed was conducted within Itasca State Park, Minnesota. This research focused on ten lakes within the perimeter and backcountry parts of the State Park. The focus of this research was the water quality between lakes, the water quality compared to anthropogenic features, and water quality compared with the land cover of its watershed. Water samples were collected from July 2022 through May 2023 and analyzed for selected ions, field parameters of temperature, pH, …


A Qualitative Case Study Of Students' Of Color Perceptions And Experiences Of Academic Success In College Algebra At Snow College, Melanie Larsen Jenkins May 2024

A Qualitative Case Study Of Students' Of Color Perceptions And Experiences Of Academic Success In College Algebra At Snow College, Melanie Larsen Jenkins

Theses and Dissertations

This qualitative case study explored perceptions of learning support and student success, particularly for students of color who had enrolled in a college algebra course. The purpose of this study was primarily to include student voices in the conversations about student success. The study uses a qualitative case study approach in two ways: 1) to interview nine students who found success and students who did not find success in College Algebra to glean information about their personal experiences and perceptions of learning and 2) to interview three professors of College Algebra to understand their pedagogical strategies that are designed to …


Stem Teacher Shortage In American Schools: A Case Study Exploring The Recruitment Of Stem Majors Into Teacher Education Programs, Adekunle Lawal May 2024

Stem Teacher Shortage In American Schools: A Case Study Exploring The Recruitment Of Stem Majors Into Teacher Education Programs, Adekunle Lawal

Theses and Dissertations

There has been a STEM (science, technology, engineering, and mathematics) teacher shortage in K-12 schools across the United States (Klassen et al., 2021; Luft et al., 2005). To help provide a possible solution to the nationwide STEM teacher shortage, this study investigated the factors that influence STEM majors to change careers from STEM disciplines to teaching. In the current study, six American STEM teachers who have switched careers from the STEM profession to the teaching field were interviewed to find out the factors that led them to change careers; and how schools of education could use these factors in creating …


Performance Assessment Of Wastewater Treatment Processes: Evaporation, Microplastic Settling, Biosolid Air Drying And Gasification, Fangtian Li May 2024

Performance Assessment Of Wastewater Treatment Processes: Evaporation, Microplastic Settling, Biosolid Air Drying And Gasification, Fangtian Li

Theses and Dissertations

The main contaminants in wastewater can be classified as suspended solid, dissolved inorganic and organic molecules. The dissolved inorganics in wastewater are salinity such as sodium chloride and sodium sulfate. Evaporation is one possible method to separate dissolved salt from high salinity wastewater, but the proper application of energy-saving evaporation depends on many conditions. Microplastic is a part of total suspended solids and can be effectively removed through settling process, and the removal efficiency can be predicted by settling model. Biological treatment eliminates organic matters and biosolids are the inevitable by-products. Air drying is a sustainable approach for reducing water …


Law Enforcement And Traumatic Experiences: A Qualitative Study With Administrators, Tami Jo N. Lieberg May 2024

Law Enforcement And Traumatic Experiences: A Qualitative Study With Administrators, Tami Jo N. Lieberg

Theses and Dissertations

The culture and work experiences of law enforcement lead to unique workplace trauma. The cumulative and complex trauma commonly faced by law enforcement officers can activate multiple stress-related illnesses, including Post-Traumatic Stress Disorder (PTSD). These illnesses can have high personal costs to the individuals, lead to loss of departmental productivity and effectiveness, and incur higher expenses for taxpayers due to overtime and high turnover rates and potential lawsuits. Research over several decades has identified risk and resiliency factors for officers. One identified risk and resiliency factor is relationship with management. This research study explores how department leaders can assist officers …


Additives Impact On Wet Strength And Size Development In Papermaking- Polyamide Epichlorohydrin (Pae), Alkenyl Succinic Anhydride (Asa) And Alkyl Ketene Dimer (Akd) Cases, Yao Parnell Ntifafa May 2024

Additives Impact On Wet Strength And Size Development In Papermaking- Polyamide Epichlorohydrin (Pae), Alkenyl Succinic Anhydride (Asa) And Alkyl Ketene Dimer (Akd) Cases, Yao Parnell Ntifafa

Theses and Dissertations

Additives are ingredients used in papermaking to enhance fiber properties, introduce special properties to the paper and improve the efficiency of the paper making process. Wet strength agents, sizing agents, dry strength agents, fillers, retention aids, defoamers, dyes and pigments are common additives used in paper mills. Poor retention of wet strength additive such as PAAE (polyamide epichlorohydrin) and hydrophobicity loss due to ASA (alkenyl succinic anhydride) and AKD (alkyl ketene dimer) size reversion not only increase cost and reduce product quality in the mill but also increase customer complaints and rejections.In this study, a method was developed to quantify …


Detecting Flowering Coverage In North Dakota Right-Of-Ways For Supporting Pollinators: A Road Survey Approach, Yeqian Xu May 2024

Detecting Flowering Coverage In North Dakota Right-Of-Ways For Supporting Pollinators: A Road Survey Approach, Yeqian Xu

Theses and Dissertations

Establishing and maintaining high-quality grasslands and conservation lands for pollinators can be difficult and costly. As an alternative, roadsides can provide additional forage resources. This study aims to examine the potential of roadside, road ditch, and right-of-way (ROW) land in North Dakota (ND) as alternative habitats for pollinators by quantifying the yellow flowering observed in these sites. The project encompasses a multifaceted approach to assess the viability of roadside ditches in supporting pollinator ecosystems. The research incorporates two essential components: 1) an extensive road survey through the Prairie Pothole Region (PPR) of ND in two consecutive summer seasons and 2) …


The Influence Of Woody Cover And An Exploration Of Raptor Density On Northern Bobwhite Survival In Southern Illinois, Blake Baum May 2024

The Influence Of Woody Cover And An Exploration Of Raptor Density On Northern Bobwhite Survival In Southern Illinois, Blake Baum

Theses

Northern bobwhites (Colinus virginianus) are a culturally and economically significant game bird characteristic of grassland landscapes throughout their range. Despite the variety of research conducted on this species for nearly a century, populations continue to steadily decline, raising concern for future populations and highlighting the need for region-specific research. My research was conducted at Burning Star State Fish and Wildlife Area in northeastern Jackson County, Illinois from 2020-2022. My research addressed the following two objectives to provide insight on the population ecology of bobwhites at this site: (1) investigate the impact of multiple woody cover types within the home ranges …


The Impact Of Vehicular Noise On The Effectiveness Of Acoustic Indices, Rebecca Ducay May 2024

The Impact Of Vehicular Noise On The Effectiveness Of Acoustic Indices, Rebecca Ducay

Theses

Passive acoustic monitoring (PAM) is a valuable tool in wildlife research, offering non-invasive and cost-effective means to collect acoustic data. However, the processing of PAM recordings can be time-consuming, prompting the use of acoustic indices to expedite analysis. Acoustic indices are numerical values that characterize biological information in sound recordings based on an environment’s acoustic characteristics. While acoustic indices have been correlated with species richness across ecological contexts, their reliability diminishes in areas with heightened vehicular noise. However, it is unclear if index biases caused by vehicular noise are consistent across all traffic levels, and which acoustic indices are most …


Geometric Multi-Resolution Analysis Across Signals, Images, And Networks, Felicia Schenkelberg May 2024

Geometric Multi-Resolution Analysis Across Signals, Images, And Networks, Felicia Schenkelberg

Dartmouth College Master’s Theses

This research delves into the transformative potential of Geometric Multi-Resolution Analysis (GMRA) as a robust tool for dimensionality reduction and data analysis in the context of high-dimensional graphs. Statistical techniques for classification have historically been tailored for scenarios wherein the number of observations significantly exceeds the number of features, a paradigm characteristic of low-dimensional datasets. However, recent advancements in technologies have ushered in a transformative era in data collection practices across diverse domains, resulting in the acquisition of extensive feature measurements. As a result of this shift, datasets have transitioned into a high-dimensional realm wherein the number of features significantly …


Impact Of Covid-19 On Asynchronous Learning For Higher Education Administration Graduate Students, Paul Tontz, Jenna Reyes, Alyssa Reyes May 2024

Impact Of Covid-19 On Asynchronous Learning For Higher Education Administration Graduate Students, Paul Tontz, Jenna Reyes, Alyssa Reyes

Journal of Excellence in College Teaching and Learning

Online courses can be isolating experiences, as many students need a high level of discipline and structure to complete coursework. The impact of COVID-19 caused major disruptions to higher education particularly for teaching and learning in early 2020. Teo and Williams’ (2005) framework for effective online learning was applied to this study to learn of its utility for asynchronous graduate student learning. Eight students taking courses in an online asynchronous graduate program in higher education were interviewed for this study. The findings indicated that not all of Teo and Williams’ sub-environments described students’ asynchronous learning experience during COVID-19, with additional …


Advising Postsecondary Students To Success And Retention: The P.A.S.E. Model, Stephanie Ford May 2024

Advising Postsecondary Students To Success And Retention: The P.A.S.E. Model, Stephanie Ford

Journal of Excellence in College Teaching and Learning

Advising students toward success at the university and college levels often solely focuses on academic advising alone, leaving them struggling in other areas of their postsecondary educational experiences, which can greatly hinder student retention rates (Karp et al., 2021). However, when postsecondary students have access to highly effective advisors who invest more deeply into the advising process, the students become confident, empowered, and invested in their college experiences; as a result, they continue to re-enroll each semester. Recently, there has been increased insight into the importance of non-academic support provided by academic advisors to students, such as helping gain employment …


Associations Of Adhd Symptoms, Anxiety Symptoms, And Executive Functions In College-Age Women, Micayla Carter May 2024

Associations Of Adhd Symptoms, Anxiety Symptoms, And Executive Functions In College-Age Women, Micayla Carter

Honors Capstones

No abstract provided.


Reactive Oxygen Species Production In Head Regeneration Of Planaria From Cadmium Exposure, Natalie Gonzalez May 2024

Reactive Oxygen Species Production In Head Regeneration Of Planaria From Cadmium Exposure, Natalie Gonzalez

Graduate Student Dissertations, Theses, Capstones, and Portfolios

Exposure to cadmium, a pervasive neurotoxic chemical found in our environment, poses significant health risks, disrupting various physiological systems and fostering carcinogenesis. Commonly found in everyday items like cigarettes, batteries, and plastics, cadmium disrupts the equilibrium between reactive oxygen species (ROS) production and cellular repair mechanisms, culminating in oxidative stress and potential cell damage. In toxicological and pharmaceutical research, planarians offer valuable insight for understanding how exposure to chemicals akin to human scenarios can alter biological systems. This experiment addresses the effect cadmium chloride (CdCl2) has on planarian regeneration and whether antioxidants can mitigate those adverse outcomes. Our …


The Role Of Oncomodulin In The Central Nervous System Inflammation, Evan Paltjon May 2024

The Role Of Oncomodulin In The Central Nervous System Inflammation, Evan Paltjon

Honors Theses

Acoustic overexposure in mice leads to an excess of calcium influx in outer hair cells (OHCs) and causes permanent hearing loss due to death of OHCs. Oncomodulin is a parvalbumin calcium buffering protein located in OHCs of the cochlea. Early pilot studies indicate that genetic deletion of OCM results in immune-related pathology throughout the cochlea. Why and how this occurs is unknown. Studies in wild type (WT) and OCM knockout (KO) mice demonstrate greater numbers of immune cells are associated with noise exposure in an OCM knockout than in WT. Expression of toll-like receptor 4 (TLR4) leads to the recruitment …


Prison Parts: The Theological-Ethical Problem Of Using Prisoners As Living Organ Donors, Eryn Reyes Leong May 2024

Prison Parts: The Theological-Ethical Problem Of Using Prisoners As Living Organ Donors, Eryn Reyes Leong

Say Something Theological: The Student Journal of Theological Studies

This paper is a theological and ethical reflection of Massachusetts House Bill 2333, which would reduce prison sentences on the condition that state prisoners donate bone marrow or an organ. Looking specifically at agency and bodily integrity as the two facets of imago Dei that are implicated by House Bill 2333, I address the crucial question: Does House Bill 2333 distort the dignity of prisoners as imago Dei by incentivizing living prisoners to donate their body parts in exchange for freedom? Using Margaret A. Farley’s justice framework articulated in Just Love: A Framework for Christian Sexual Ethics (2006), this paper: …


Enhancement Of Favipiravir With Compound X In A Hamster Model Of Yellow Fever Virus Infection, Hunter Stanger May 2024

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. …


Translating Motivational Interviewing For The Hpv Vaccine Into A Computable Ontology Model For Automated Ai Conversational Interaction, Nicole Moore, Muhammad Amith, Ana C Neumann, Jane Hamilton, Lu Tang, Lara S Savas, Cui Tao May 2024

Translating Motivational Interviewing For The Hpv Vaccine Into A Computable Ontology Model For Automated Ai Conversational Interaction, Nicole Moore, Muhammad Amith, Ana C Neumann, Jane Hamilton, Lu Tang, Lara S Savas, Cui Tao

Faculty, Staff and Student Publications

Human papillomavirus (HPV) vaccinations are lower than expected. To protect the onset of head and neck cancers, innovative strategies to improve the rates are needed. Artificial intelligence may offer some solutions, specifically conversational agents to perform counseling methods. We present our efforts in developing a dialogue model for automating motivational interviewing (MI) to encourage HPV vaccination. We developed a formalized dialogue model for MI using an existing ontology-based framework to manifest a computable representation using OWL2. New utterance classifications were identified along with the ontology that encodes the dialogue model. Our work is available on GitHub under the GPL v.3. …


Abnormality Of Early White Matter Development In Tuberous Sclerosis Complex And Autism Spectrum Disorder: Longitudinal Analysis Of Diffusion Tensor Imaging Measures, Siddharth Srivastava, Fanghan Yang, Anna K Prohl, Peter E Davis, Jamie K Capal, Rajna Filip-Dhima, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Bo Zhang, Tacern Study Group May 2024

Abnormality Of Early White Matter Development In Tuberous Sclerosis Complex And Autism Spectrum Disorder: Longitudinal Analysis Of Diffusion Tensor Imaging Measures, Siddharth Srivastava, Fanghan Yang, Anna K Prohl, Peter E Davis, Jamie K Capal, Rajna Filip-Dhima, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Bo Zhang, Tacern Study Group

Faculty, Staff and Student Publications

Background:

Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for this study were as follows: (1) use data from a longitudinal neuroimaging study of tuberous sclerosis complex (TACERN) to develop optimized linear mixed effects models for analyzing longitudinal, repeated diffusion tensor imaging metrics (fractional anisotropy, mean diffusivity) pertaining to select white matter tracts, in relation to positive Autism Diagnostic Observation Schedule–Second Edition classification at 36 months, and (2) perform an exploratory analysis using optimized models applied to all white matter tracts from these data.

Methods:

Eligible participants (3-12 months) …


Risk Evaluation In Occupational Safety And Health Research: Results From A Benchmarking Exercise Of Federal And Academic Irbs, Sarah A Felknor, Jessica M K Streit, Angela M Morley, John D Piacentino May 2024

Risk Evaluation In Occupational Safety And Health Research: Results From A Benchmarking Exercise Of Federal And Academic Irbs, Sarah A Felknor, Jessica M K Streit, Angela M Morley, John D Piacentino

Faculty, Staff and Student Publications

OBJECTIVE: Research involving working populations can pose unique ethical and risk evaluation challenges. The purpose of this benchmarking project was to assess how federal agencies and academic institutions approach the interpretation and application of key risk evaluation concepts in research involving workers in their places of employment.

METHODS: Key informant interviews were conducted to ascertain current practices related to assessing soundness of research design, determining risk reasonableness and research relatedness of risks, and evaluating the risk of noninvasive clinical tests in occupational settings.

RESULTS: There were noteworthy commonalities among the approaches described to review and address critical aspects of risk …


The Role Of Anti-Viral Immune Response On The Therapeutic Efficacy Of Oncolytic Virotherapy For High-Grade Gliomas, Dong Ho Shin Phd May 2024

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 May 2024

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 …


High-Dimensional Mediation Analysis Of Multi-Omics Data, Sunyi Chi May 2024

High-Dimensional Mediation Analysis Of Multi-Omics Data, Sunyi Chi

Dissertations and Theses (Open Access)

Environmental exposures such as cigarette smoking influence health outcomes through intermediate molecular phenotypes, such as the methylome, transcriptome, and metabolome. Mediation analysis is a useful tool for investigating the role of potentially high-dimensional intermediate phenotypes in the relationship between environmental exposures and health outcomes. Rapid development of high-throughput technologies have made mediation analysis of multi-omics data critical to gain groundbreaking insights into the biological mechanisms underlying the disease etiology. This dissertation aims to develop mediation analysis methods that utilize the enormous amount of multi-omics data in assessing mechanisms of disease etiology. It contains three projects where I propose advanced mediation …


Epigenetic Modification As A Therapeutic Target In Brafv600e-Mutated Metastatic Colorectal Cancer, Hey Min Lee May 2024

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

Dissertations and Theses (Open Access)

Patients with BRAFV600E-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 BRAFV600E CRC were unveiled. Intriguingly, a robust association of BRAFV600E 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, …


Investigating The Role Of The Gut Microbiota On Immune Checkpoint Inhibitor-Mediated Colitis, Taylor Halsey, Robert Jenq May 2024

Investigating The Role Of The Gut Microbiota On Immune Checkpoint Inhibitor-Mediated Colitis, Taylor Halsey, Robert Jenq

Dissertations and Theses (Open Access)

Immune checkpoint inhibitors (ICIs) have been revolutionary in the fight against cancer by recruiting the host immune system as an agent for attack on malignant cells. Unfortunately, immune-related adverse events (irAEs), including ICI-mediated colitis (IMC), are common side effects that result from immune cell mediated damage on healthy tissues. Recent studies have highlighted a role for the gut microbiota in modulating ICI-mediated anti-tumor responses, but less is known regarding how the gut microbiota may impact on irAEs. Considering that the gastrointestinal tract harbors thousands of unique microbial species, many of which are known to modulate the immune system, microbes and …


Loss Of Ptdss1 In Tumor Cells Improves Anti-Pd-1 Therapy, Jielin Liu May 2024

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 …


Acute Pain Prediction In Oral Cavity And Oropharyngeal Cancer Patients Receiving Radiation Therapy, Vivian Salama May 2024

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 May 2024

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 May 2024

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 May 2024

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 …