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Estimation Of Angular Response Curves Using A Phase Differencing Bathymetric Sonar, Kandice Gunning

Master's Theses

Although Multibeam Echosounders (MBES) backscatter products like Angular Response Curves (ARC) and mosaics have been used and applied to different sediment types as classification tools, little is known about the extraction and interpretation of ARCs using Phase Differencing Bathymetric Sonar Systems (PDBS). This thesis aims to use an across-track approach to develop a method for extracting ARCs from georeferenced bathymetric data using PDBS.

Three different data collection surveys were conducted using a PDBS operating at 540kHz. Using only the bathymetric data, initial ARCs from 3 different intensity classes (high, medium, and low) were successfully extracted, the results of which attempted …

Evaluating Habitat Use By Nekton In Widgeon Grass (Ruppia Maritima), Shoal Grass (Halodule Wrightii), And Unvegetated Bottom Habitats In The Grand Bay National Estuarine Research Reserve, Jessica Woodall

Master's Theses

Seagrass beds support high biodiversity and animal abundance, serve as feeding grounds for a variety of animals, offer shelter from predation, and act as a nursery habitat for juveniles. The species composition of seagrass beds can impact their use as habitat by animals. Two common species of seagrass in the Gulf of Mexico are Ruppia maritima (widgeon grass) and Halodule wrightii (shoal grass). The shallow coastal waters of the Grand Bay National Estuarine Research Reserve (NERR) support both species, but the use of each seagrass as habitat by nekton is poorly understood, which can limit management decision-making. Nekton communities were …

The Examination Of A Teacher Mentorship Intervention On Junior Teachers' Stress And Self-Efficacy, Cagla Cobek

Master's Theses

This study examined a daily Check-In/Check-Out mentorship intervention for junior teachers. Changes in junior teachers’ stress level and their sense of self-efficacy were measured. Researchers collected data from three junior teachers and mentor dyads in a Southeastern school district. A Multiple Baseline Design across three teachers was used in this study to examine the impact of the daily mentorship intervention. The results suggested that daily Check-Ins and Check-Outs with mentor teachers decreased all three junior teachers’ daily stress. The intervention did not impact significantly on junior teachers’ perceived stress and their sense of self-efficacy. Overall, this study supports a promising …

Tumor Treating Fields: Narrative Review Of A Promising Treatment Modality For Cancer, Tugce Kutuk, Alonso La Rosa De Los Rios, Rupesh Kotecha, Minesh Mehta, Michael Chuong

All Publications

Background and objective: Tumor treating fields (TTFields) therapy have emerged as a potentially effective treatment for various malignancies by delivering low-intensity, intermediate-frequency electrical fields that disrupt many processes inside cells, resulting in the interruption of cell division in cancer cells. Additionally, TTFields therapy has been found to be synergistic with existing therapeutic approaches. In this review, we provide an introduction and background to the primary mechanisms of TTFields and discuss the emerging preclinical and clinical outcomes of this novel cancer treatment technology.

Methods: We performed a literature search on PubMed, ClinicalTrials.Gov, and Google Scholar using the terms 'TTFields' and 'cancer'. …

Environmental Exposure Effects To Humans And Trends Of Harmful Algal Blooms In Nebraska, Ericka Sanders

Capstone Experience: Master of Public Health

Harmful algae blooms (HAB) are becoming more of a human health concern. Humans are exposed to harmful algae blooms from freshwater bodies used for recreational activities. The presence of harmful algae blooms has been increasing across the United States. Aerosol, dermal, and ingestion routes of exposure are ways humans can develop an illness when around a HAB. Environmental exposure to humans above 8 ppb per liter of surface water can cause mild to severe symptoms and, in rare cases, may be fatal. Exposure can be acute or chronic. The Nebraska Department of Environment and Energy (NDEE) has implemented a monitoring …

The Relationship Between Self-Reported Mental Health And Body Mass Index Among Adults In The United States Using The 2021 Behavioral Risk Factor Surveillance System (Brfss), Madhur Pandey

Capstone Experience: Master of Public Health

Objective

This study investigated the link between frequent mental distress (FMD) and body mass index (BMI) in 2021 among U.S. adults, while considering sociodemographic and lifestyle factors.

Methods

Using 2021 Behavioral Risk Factor Surveillance System (BRFSS) data, we analyzed the association between BMI as the dependent variable and FMD as the independent variable, considering the sociodemographic factors and lifestyle variables. Logistic regression models were applied.

Results

In our sample, 30.7% had a normal BMI, while 69.3% were outside the normal range. Of these, 85.1% reported infrequent mental distress, whereas 14.9% reported FMD. Those with FMD were more likely to have …

A Cross-Sectional Analysis Of Adverse Childhood Experience Exposure On Cancer Diagnosis Utilizing The 2022 Behavioral Risk Factor Surveillance Survey Data, Emma Zipperer

Capstone Experience: Master of Public Health

Objective: To determine the association between Adverse Childhood Experiences (ACEs) and cancer diagnosis based on ACE exposure levels.

Methods: We utilized data collected in the 2022 Behavioral Risk Factor Surveillance System (BRFSS) survey. The study population (n=54,148) was restricted to states that reported on the optional model of experiencing ACEs and those who responded about cancer diagnosis. A univariate analysis, bivariate analysis and a multivariate logistic regression were performed. Odds of cancer diagnosis among those with differing ACE exposure levels were calculated.

Results: High ACE exposure had 20% higher odds of cancer diagnosis when compared to low ACE exposure. White, …

Habitat Associations Of Plains Spotted Skunk (Spilogale Interrupta) Across The Plains Ecoregion. And The Landcover Occupancy Models Of The Gray Fox (Urocyon Cinereoargenteus) In The Southeastern Plains Region In Arkansas, Michael Shaw

Graduate Theses and Dissertations

Much of the landscape of the United States has been altered by humans, leading to the eradication of most populations of large mammalian predators. Consequently, many species of mammalian mesopredators (medium-sized mammalian predators) have come to dominate the landscape. Species such as the gray fox (Urocyon cinereoargenteus) may appear to be on the rise and doing well due to their widespread range, but at a local scale may need monitoring and less is known in areas of its range. Others such as the plains spotted skunk have a wide range across the plains but are on the decline even with …

Exploring The Interrelationships Among Structural Complexity, Multi-Trophic Biodiversity, And Ecosystem Productivity In Forested Ecosystems., Ayanna St. Rose

Graduate Theses and Dissertations

Forests play a pivotal role in sustaining global biodiversity and mitigating the global climate, as they serve as the primary refuge for terrestrial biodiversity and effectively capture and store atmospheric carbon dioxide. However, changing climate and land use are altering the geographic distribution, physical structure, and productivity of forested ecosystems that can have profound impacts on biodiversity conservation, forest productivity, and global climate. This dissertation contributes to our understanding of multifaceted interactions between the physical and biological structural complexity and ecosystem functions in forested landscapes across the United states by using openly available data from two national networks: the National …

A Muscle Exercise Research Revolution Powered By -Omics At Single Cell And Nucleus Resolution, Kevin A. Murach, Charlotte Peterson

Health, Human Performance and Recreation Faculty Publications and Presentations

In the last few years, single cell and single nucleus RNA-sequencing technologies have been leveraged in exercised adult skeletal muscle to reveal complex cell type-specific regulation of muscle plasticity. Expanding -omics technology at single cell resolution, complimented by advanced computational approaches, promise to rapidly accelerate our understanding of how exercise confers its numerous beneficial effects, paving the way for cell type-specific and targeted therapeutics to increase exercise responses during aging and in the face of chronic disease.

Androgen Receptor: A Complex Therapeutic Target In Breast Cancer, Sarah Tinuade Asemota

Theses and Dissertations (ETD)

Breast cancer is classified based on the expression of three markers estrogen receptor (ER), progesterone receptor, and human epidermal growth factor receptor (HER2). Breast cancers that express these targets are classified as hormone receptor (HR) positive breast cancer and the tumors that lack the expression of these markers are classified as triple negative breast cancer (TNBC). Though HR-positive breast cancer is treated with hormonal and cyclin-dependent kinase 4/6 targeted therapies, the cancer relapses and becomes resistant to the treatment options. Androgen receptor (AR) that is expressed in over 90\% of ER-positive breast cancer and in 20\% of TNBC is a …

The Therapeutic Role Of Lm11a-31 (A P75ntr Modulator) In The Outcome Of Ischemic Stroke And Hiv-1 Pathogenesis, Golnoush Mirzahosseini

Theses and Dissertations (ETD)

The objective of this research project is to explore the potential therapeutic role of LM11A-31 in both ischemic stroke and human immunodeficiency virus-1 (HIV-1) infection. There are limited treatment options for ischemic stroke, with tissue plasminogen activator (tPA) being the only effective medication and a narrow administration window, which is also accompanied with the high incidence of ischemic stroke in HIV-1 infected individuals. Therefore, it is critical to explore an effective therapeutic agent to address the urgent medical need. LM11A-31 is a p75 neurotrophin receptor (p75NTR) modulator and is orally bioavailable, and it can penetrate the intact blood-brain barrier (BBB). …

Improving Estimation Of Coronary Artery Disease Risk Using Haptoglobin Genotyping, Emily Kate Mewborn

Theses and Dissertations (ETD)

Atherosclerotic cardiovascular disease (ASCVD) continues to be the leading cause of death worldwide. While several risk factors contributing to disease progression are well-known, pitfalls and limitations exist for estimating if or when an individual will develop the disease. Coronary artery disease (CAD), a subtype of ASCVD, causes myocardial infarction, contributing to significant morbidity and mortality. Current ASCVD risk estimator calculators lack comprehensiveness and do not include genetic or social determinants of health information, which are known to affect ASCVD risk.

Haptoglobin (Hp) genotype also influences CAD risk. Hp is a protein that binds free hemoglobin released from physiologic or pathologic …

Discovery Of Inhibitors Of Inhibitors Of Apoptosis Proteins And Novel Tubulin Polymerization Inhibitors As Potential Anticancer Agents, Najah Ghazi Albadari

Theses and Dissertations (ETD)

The global impact of cancer as a significant public health concern is undeniable. According to the annual report by the American Cancer Society, projections for 2023 estimate 1,958,310 new cancer cases and 609,820 cancer-related deaths in the US. Recent years have seen significant progress in cancer treatment; however, existing therapies face several challenges. Cytotoxic agents-based chemotherapy often has low therapeutic index and encounters drug resistance shortly after initiation, while immunotherapies exhibit low response rates that vary between patients. As a result, there is a pressing need for the development of novel and effective cancer treatment. The work presented here focuses …

Design And Synthesis Of Novel Small Molecule Drugs For The Treatment Of Cancer And Osteoporosis, Hanxuan Li

Theses and Dissertations (ETD)

Cancer and osteoporosis are two commonly diagnosed disease around the world which poses major health threat. In this thesis, we provide the background information to two types of cancers, namely ovarian cancer and liver cancer, as well as osteoporosis, and our approach for the treatment of the diseases. In chapter one, we discussed the background information about the diseases. The cause and the current treatment options are discussed, providing the basis for the chapters written later. In chapter two, we focused on the treatment of hepatocellular carcinoma. To construct the drug, we utilized a technique called small molecule drug conjugate, …

The Role Of Tcr Engagement Strength In Antitumor Cd8 T Cell Exhaustion, Xin Lan

Theses and Dissertations (ETD)

Durability of an antitumor immune response is mediated in part by the persistence of progenitor exhausted CD8 T cells (Tpex). Tpex serve as a source for the pool of effector T cells that tend to have a short lifespan or eventually become dysfunctional in uncleared tumors. In contrast to the short-lived feature of their daughter cells, Tpex are able to preserve their quantity and developmental potential through a process of self-renewal. Previous research has demonstrated that Tpex can even self-renew in the absence of their cognate antigen. However, it remains unknown how T cell receptor (TCR) engagement impacts the self-renewal …

Shifting Emergency Department Utilization Patterns Among Vulnerable Populations During The Covid-19 Pandemic, Leigh A. Mccormack

Theses and Dissertations (ETD)

Background: COVID-19 is a contagious respiratory illness caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). As of March 10, 2023, the virus infected nearly 104 million Americans. Many individuals were wary of seeking medical attention for issues unrelated to COVID-19 for fear of infection inside healthcare facilities. This hesitation caused a drop in emergency department (ED) visits for non-COVID-19 conditions. It is essential to ensure that individuals with critical healthcare needs receive the care they require and to mitigate the potential long-term consequences of delayed or deferred care. Objectives: The primary aim of this study is to examine …

Exogenous Mitochondrial Transfer And Il-6: Modulating Adipocyte Metabolism In Obesity-Associated Dysregulation, Soumi Mazumdar

Theses and Dissertations (ETD)

Obesity, a global health epidemic, poses significant challenges to public well-being due to its complex interplay of metabolic dysregulation, inflammation, and associated comorbidities. Mitochondria, central to ATP production, lipid metabolism, and thermogenesis, play a crucial role in modulating white adipose tissue metabolism. This thesis explores an innovative strategy for addressing mitochondrial dysfunction in obesity which is a critical aspect of this multifactorial problem. The research findings presented herein uncover the impact of introducing exogenous mitochondria into NIH3T3-L1 adipocytes on various aspects of adipocyte function. The key discoveries of this study include a remarkable upregulation of energy expenditure genes, notably Ucp1, …

Investigating Potential Quantitative Trait Loci For Susceptibility To Experimental Autoimmune Encephalomyelitis In The Bxd Family Of Mice, Margaret Caroline Danehy

Theses and Dissertations (ETD)

Multiple Sclerosis is an autoimmune inflammatory condition that causes disability, axonal damage in the central nervous system, and eventual paralysis. One of the main risk factors for developing MS is genetics, with recent studies identifying multiple risk alleles associated the major histocompatibility complex. By utilizing the BXD family of mice, we investigated genetic factors that affect a BXD strain’s susceptibility to EAE, an inducible disease model for MS. We induced EAE in several BXD mice strains via an emulsion of complete Freund’s adjuvant and MOG35-55, and then measured disease severity in each strain. From there, we measured incidence rate of …

The Mindful Way: An Explorative Case Study Of The Transformative Effects Of Afro Flow Yoga A Culturally Adapted Mindfulness Intervention On The Health And Well-Being Of Black Women, Danielle A. Jones

Education Doctoral

This qualitative phenomenological exploratory case study explored Afro Flow Yoga to evaluate its potential as a culturally adaptable mindfulness-based intervention for enhancing the health and well-being of Black women while addressing the historical ills and adverse effects of intersectionality. From its beginning, the United States has discriminated against and defeminized Black women while profiting from all aspects of their lives. To be Black and female in America is to experience perpetual racism, sexism, and other "isms" as forms of harm and oppression. Therefore, culturally adapted mindfulness interventions are essential to cater to the unique needs of Black women. The mindfulness …

Navigating The Stem Landscape: Exploring The Challenges And Opportunities For Latinas In Pursuit Of Representation And Inclusion, Ana B. Mendieta

Education Doctoral

This phenomenological study delves into the underrepresentation that Latinas experience in the science, technology, engineering, and mathematics (STEM) industry, a notable disparity given their increased enrollment in higher education, revealing a significant concern within the STEM educational pipeline. Utilizing the core components of the STEM identity framework (competence, performance, and recognition) in conjunction with the cultural value of familismo, which emphasizes strong familial bonds, the research seeks to illuminate the complexities Latinas navigate as they strive to carve a pathway within the STEM education to workforce pipeline. Using a qualitative approach, the study identifies that the timing of participants' initial …

How Sewage Pollution Affects Distribution And Life History Traits Of The Southern House Mosquito, Culex Quinquefasciatus, Catherine Dean Bermond

Master's Theses

Eutrophication from wastewater can cause fluxes of nutrients like and carbon and nitrogen in urban waters. One source of nitrogen in freshwater is from untreated sewage discharging from septic tanks. This causes a variety of environmental issues including harmful algal blooms, harming natural predators, and increased production of mosquitoes. Culex quinquefasciatus is the vector of West Nile Virus in St. Tammany Parish, Louisiana. St. Tammany Parish has over 600 miles of septic ditches, which receive effluent directly from aerated treatment units. Culex quinquefasciatus oviposit in polluted waters, and larvae perform well in water with high levels of decomposing organic matter. …

Whose Woods These Are: Human-Environment Relationships Among Stakeholders Of South Mississippi's Longleaf Pine Ecosystem, Helen Greene

Master's Theses

Between 1870 and 1920, the longleaf pine belt of the southeastern United States experienced an extensive and unsustainable period of logging. In the years after the logging boom the landscape of the Southeast was reforested, but fire suppression and a preference among landowners for loblolly pine resulted in a dense and less resilient forest with reduced biodiversity. This research looks at the human geography of remnants of the longleaf pine ecosystem in South Mississippi and the nature of contemporary relationships between South Mississippi residents and this ecosystem.

In an effort to make sense of the complex relationships between people and …

Stereochemical Engineering Yields A Multifunctional Peptide Macrocycle Inhibitor Of Akt2 By Fine-Tuning Macrocycle-Cell Membrane Interactions, Arundhati Nag, Amirhossein Mafi, Samir Das, Mary Beth Yu, Belen Alvarez-Villalonga, Soo-Kyung Kim, Yapeng Su, William A. Goddard, James R. Heath

Chemistry

Macrocycle peptides are promising constructs for imaging and inhibiting extracellular, and cell membrane proteins, but their use for targeting intracellular proteins is typically limited by poor cell penetration. We report the development of a cell-penetrant high-affinity peptide ligand targeted to the phosphorylated Ser474 epitope of the (active) Akt2 kinase. This peptide can function as an allosteric inhibitor, an immunoprecipitation reagent, and a live cell immunohistochemical staining reagent. Two cell penetrant stereoisomers were prepared and shown to exhibit similar target binding affinities and hydrophobic character but 2-3-fold different rates of cell penetration. Experimental and computational studies resolved that the ligands’ difference …

Lasofoxifene Versus Fulvestrant For Er+/Her2- Metastatic Breast Cancer With An Esr1 Mutation: Results From The Randomized, Phase Ii Elaine 1 Trial, Grace Wang

All Publications

Background: Acquired estrogen receptor alpha (ER/ESR1) mutations commonly cause endocrine resistance in ER+ metastatic breast cancer (mBC). Lasofoxifene, a novel selective ER modulator, stabilizes an antagonist conformation of wild-type and ESR1-mutated ER-ligand binding domains, and has antitumor activity in ESR1-mutated xenografts.

Patients and methods: In this open-label, randomized, phase II, multicenter, ELAINE 1 study (NCT03781063), we randomized women with ESR1-mutated, ER+/human epidermal growth factor receptor 2 negative (HER2-) mBC that had progressed on an aromatase inhibitor (AI) plus a cyclin-dependent kinase 4/6 inhibitor (CDK4/6i) to oral lasofoxifene 5 mg daily or IM fulvestrant 500 mg (days 1, 15, …

Comparative And Integrative Analysis Of Transcriptomic And Epigenomic-Wide Dna Methylation Changes In African American Prostate Cancer, Chad J Creighton, Flora Zhang, Yiqun Zhang, Patricia Castro, Rong Hu, Md Islam, Somiranjan Ghosh, Michael Ittmann, Bernard Kwabi-Addo

Faculty, Staff and Students Publications

African American (AA) men have the highest incidence and mortality rate from Prostate cancer (PCa) than any other racial/ethnic group. To date, PCa genomic studies have largely under-represented tumour samples from AA men. We measured genome-wide DNA methylation in benign and tumor prostate tissues from AA men using the Illumina Infunium 850 K EPIC array. mRNA expression database from a subset of the AA biospecimen were used to assess correlation of transcriptome and methylation datasets. Genome-wide methylation analysis identified 11,460 probes that were significant (p < 0.01) and differentially methylated in AA PCa compared to normal prostate tissues and showed significant (p < 0.01) inverse-correlation with mRNA expression. Ingenuity pathway analysis and Gene Ontology analysis in our AA dataset compared with TCGA dataset showed similarities in methylation patterns: top candidate genes with significant hypermethylation and corresponding down-regulated gene expression were associated with biological pathways in hemidesmosome assembly, mammary gland development, epidermis development, hormone biosynthesis, and cell communication. In addition, top candidate genes with significant hypomethylation and corresponding up-regulated gene expression were associated with biological pathways in macrophage differentiation, cAMP-dependent protein kinase activity, protein destabilization, transcription co-repression, and fatty acid biosynthesis. In contrast, differences in genome-wide methylation in our AA dataset compared with TCGA dataset were enriched for genes in steroid signalling, immune signalling, chromatin structure remodelling and RNA processing. Overall, differential methylation of AMIGO3, IER3, UPB1, GRM7, TFAP2C, TOX2, PLSCR2, ZNF …

Feasibility Of Stress Research In Premature Infant–Maternal Dyads During And After Neonatal Intensive Care Unit Hospitalization, Kathryn J. Malin, Kristin Kruschel, Kaboni W. Gondwe, Joanne Lagatta, C. Sue Carter, Hossein P. Nazarloo, Yvette P. Conley, Rosemary White-Traut

College of Nursing Faculty Research and Publications

Background:

Stress from preterm infant admission to the neonatal intensive care unit (NICU) is associated with infant and maternal physiologic changes, including endocrine and epigenetic alterations. Little is known about the mechanisms connecting NICU stress to biologic changes, and whether preterm infant and maternal stress are reciprocal. As a preliminary step, feasibility and acceptability of measuring indicators of stress are required.

Purpose:

This study evaluated the feasibility and acceptability of research examining perceptions and biologic markers of stress in premature infant–maternal dyads during and after NICU hospitalization.

Methods:

We evaluated study feasibility using a longitudinal descriptive design. Acceptability was measured …

Fundamental Neurochemistry Review: The Role Of Enteroendocrine Cells In Visceral Pain, Annie Londregan, Tyler D. Alexander, Manuel Covarrubias, Scott A. Waldman

Department of Neuroscience Faculty Papers

While visceral pain is commonly associated with disorders of the gut-brain axis, underlying mechanisms are not fully understood. Dorsal root ganglion (DRG) neurons innervate visceral structures and undergo hypersensitization in inflammatory models. The characterization of peripheral DRG neuron terminals is an active area of research, but recent work suggests that they communicate with enteroendocrine cells (EECs) in the gut. EECs sense stimuli in the intestinal lumen and communicate information to the brain through hormonal and electrical signaling. In that context, EECs are a target for developing therapeutics to treat visceral pain. Linaclotide is an FDA-approved treatment for chronic constipation that …

Type 2 Diabetes Modifies The Association Of Cad Genomic Risk Variants With Subclinical Atherosclerosis, Natalie R Hasbani, Kenneth E Westerman, Soo Heon Kwak, Han Chen, Xihao Li, Daniel Di Corpo, Jennifer Wessel, Joshua C Bis, Chloè Sarnowski, Peitao Wu, Lawrence F Bielak, Xiuqing Guo, Nancy Heard-Costa, Gregory L Kinney, Michael C Mahaney, May E Montasser, Nicholette D Palmer, Laura M Raffield, James G Terry, Lisa R Yanek, Jessica Bon, Donald W Bowden, Jennifer A Brody, Ravindranath Duggirala, David R Jacobs, Rita R Kalyani, Leslie A Lange, Braxton D Mitchell, Jennifer A Smith, Kent D Taylor, April P Carson, Joanne E Curran, Myriam Fornage, Barry I Freedman, Stacey Gabriel, Richard A Gibbs, Namrata Gupta, Sharon L R Kardia, Brian G Kral, Zeineen Momin, Anne B Newman, Wendy S Post, Karine A Viaud-Martinez, Kendra A Young, Lewis C Becker, Alain G Bertoni, John Blangero, John J Carr, Katherine Pratte, Bruce M Psaty, Stephen S Rich, Joseph C Wu, Rajeev Malhotra, Patricia A Peyser, Alanna C Morrison, Ramachandran S Vasan, Xihong Lin, Jerome I Rotter, James B Meigs, Alisa K Manning, Paul S De Vries

Faculty, Staff and Student Publications

BACKGROUND: Individuals with type 2 diabetes (T2D) have an increased risk of coronary artery disease (CAD), but questions remain about the underlying pathology. Identifying which CAD loci are modified by T2D in the development of subclinical atherosclerosis (coronary artery calcification [CAC], carotid intima-media thickness, or carotid plaque) may improve our understanding of the mechanisms leading to the increased CAD in T2D.

METHODS: We compared the common and rare variant associations of known CAD loci from the literature on CAC, carotid intima-media thickness, and carotid plaque in up to 29 670 participants, including up to 24 157 normoglycemic controls and 5513 …

Clinical Exome Sequencing Efficacy And Phenotypic Expansions Involving Anomalous Pulmonary Venous Return, Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L Mcbride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott

Faculty, Staff and Students Publications

Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16.3%. We then analyzed molecular data from 62 individuals with APVR accrued from three databases to …