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Opportunities And Challenges In Developing A Cryptosporidium Controlled Human Infection Model For Testing Antiparasitic Agents, Dean Wetty, Jay Lakshman, Natasha Aziz, Richa Chandra, Wilbur H Chen, Cynthia L Chappell, Thierry T Diagana, Ujjini H Manjunatha May 2021

Opportunities And Challenges In Developing A Cryptosporidium Controlled Human Infection Model For Testing Antiparasitic Agents, Dean Wetty, Jay Lakshman, Natasha Aziz, Richa Chandra, Wilbur H Chen, Cynthia L Chappell, Thierry T Diagana, Ujjini H Manjunatha

Faculty, Staff and Student Publications

Cryptosporidiosis is a leading cause of moderate-to-severe diarrhea in low- and middle-income countries, responsible for high mortality in children younger than two years of age, and it is also strongly associated with childhood malnutrition and growth stunting. There is no vaccine for cryptosporidiosis and existing therapeutic options are suboptimal to prevent morbidity and mortality in young children. Recently, novel therapeutic agents have been discovered through high-throughput phenotypic and target-based screening strategies, repurposing malaria hits, etc., and these agents have a promising preclinical in vitro and in vivo anti-


Associations Of Perceived Overall Health, Psychological Distress, Functional Impairment, And Alcohol Use Among Older Adults Of Sexual Minority Status And Heterosexual Peers, Carolyn Tran May 2021

Associations Of Perceived Overall Health, Psychological Distress, Functional Impairment, And Alcohol Use Among Older Adults Of Sexual Minority Status And Heterosexual Peers, Carolyn Tran

Dissertations and Theses (Open Access)

Background: Lesbian, gay, and bisexual (LGB) adults, 50 and older, are likely to have experienced mistreatment and discrimination, contributing to poor physical and mental health and risky behaviors, such as alcohol misuse. Few studies have examined the relationships between perceived health, psychological distress, functional impairment, and alcohol use of older LGB adults and heterosexuals.

Specific Aims: The specific aims were: (1) to determine if perceived overall health status is associated with psychological distress and functional impairment in sexual minority older adults compared to heterosexual older adults, and (2) to determine if sexual minority status moderates the relationship between psychological distress …


The Contribution Of Age-Related Changes In The Gut-Brain Axis To Neurological Disorders May 2021

The Contribution Of Age-Related Changes In The Gut-Brain Axis To Neurological Disorders

Faculty, Staff and Student Publications

INTRODUCTION: In 2018, orthopaedic trauma had the lowest match rate among orthopaedic subspecialties. The purpose of this study was to determine the importance of factors evaluated by orthopaedic trauma fellowship directors when ranking applicants after the interview.

METHODS: An electronic survey was submitted to fellowship directors and consisted of 16 factors included in a fellowship application. Respondents were asked to rate the importance of these factors for applicants they interviewed on a 1 to 5 Likert scale, with 1 being not at all important and 5 being critical.

RESULTS: Thirty-seven fellowship directors responded (63.8%). The highest-rated factor was the applicant …


Identifying And Predicting Food Parenting Practice Profiles Among Canadian Parents, Claire N Tugault-Lafleur, Olivia De-Jongh González, Teresia M O'Connor, Sheryl O Hughes, Louise C Mâsse May 2021

Identifying And Predicting Food Parenting Practice Profiles Among Canadian Parents, Claire N Tugault-Lafleur, Olivia De-Jongh González, Teresia M O'Connor, Sheryl O Hughes, Louise C Mâsse

Children’s Nutrition Research Center Staff Publications

Background: Food parenting practices (FPP) can affect children's eating behaviours, yet little is known about how various FPP co-occur. The primary aim was to identify profiles of FPPs use among Canadian parents. Secondary aims included examining sociodemographic correlates of FPP profiles and evaluating whether children's eating behaviours differed across FPP profiles.

Methods: Parents (n = 799) of 5-12-year-old children completed a validated FPP Item Bank and the Children's Eating Behaviour Questionnaire. Latent Class Analysis (LCA) was used to identify distinct FPP profiles. Regression analyses were used to explore associations between FPP profiles, sociodemographic variables (race, sex and education) and children's …


Feasibility Of The Use Of A Stereoscopic Camera In The Final Inclusion (Sci-Fi) Of Donor Organ Assessment Using Virtual Reality Technology, Ismael A. Salas De Armas, Juan E. Marcano, Jayeshkumar A. Patel, Mehmet H. Akay, Manish K. Patel, Bindu Akkanti, Marwan F. Jumean, Sachin Kumar, Rajko Radovancevic, Sriram Nathan, Biswajit Kar, Igor D. Gregoric May 2021

Feasibility Of The Use Of A Stereoscopic Camera In The Final Inclusion (Sci-Fi) Of Donor Organ Assessment Using Virtual Reality Technology, Ismael A. Salas De Armas, Juan E. Marcano, Jayeshkumar A. Patel, Mehmet H. Akay, Manish K. Patel, Bindu Akkanti, Marwan F. Jumean, Sachin Kumar, Rajko Radovancevic, Sriram Nathan, Biswajit Kar, Igor D. Gregoric

The VAD Journal

Objective: Donor organ assessment is challenging, particularly when physicians and surgeons have to make decisions remotely. To improve communication and preparation for the transplant process, we proposed that a versatile, secure, and transportable video presence would enable a detailed assessment of donor organs.

Methods: A virtual reality camera with a 360-degree visualization range was used with a smartphone receiver to enable integral assessment of the donor's heart in the operating room, with visualization of the organs in real time. Prospective, observational data was collected in two cases in this proof-of-concept study. An assessment physician evaluated the donor heart remotely, and …


Removal Of Impella In The Setting Of Left Ventricular Thrombus: A Potential Indication For Cerebral Embolic Protection Devices, Miro Asadourian, Avinash Sharma, Richard Kiel, Felice Lin, Manminder Bhullar May 2021

Removal Of Impella In The Setting Of Left Ventricular Thrombus: A Potential Indication For Cerebral Embolic Protection Devices, Miro Asadourian, Avinash Sharma, Richard Kiel, Felice Lin, Manminder Bhullar

The VAD Journal

Successful percutaneous mechanical circulatory support (MCS) has been used for acute stabilization of cardiogenic shock (CS). Improved survival outcomes have been observed in patients with CS from an acute myocardial infarction (AMI) who undergo implantation of left ventricular (LV) to ascending aorta rotodynamic pumps, such as the Impella® device (Abiomed). However, thrombotic events are a known complication of such devices in poor flow states such as CS. There is limited evidence regarding the management of patients who develop an LV thrombus after Impella insertion. Currently, the Sentinel cerebral protection system (SCPS, Boston Scientific) is the only FDA-approved device for cerebral …


Protecting Sanitation Workers In Low-Middle Income Countries Amid Covid-19, Rabeya Sultana May 2021

Protecting Sanitation Workers In Low-Middle Income Countries Amid Covid-19, Rabeya Sultana

Faculty, Staff and Student Publications

No abstract provided.


Ms 202 Guide To The Richard E. Wainerdi, Ph.D Papers (1984-2013), Richard E. Wainerdi (1931-2021) May 2021

Ms 202 Guide To The Richard E. Wainerdi, Ph.D Papers (1984-2013), Richard E. Wainerdi (1931-2021)

Manuscript Finding Aids

This collection consists of the administrative records and other materials of Dr. Richard Wainerdi who was president of the Texas Medical Center, 1984-2012. See more at MS 202.


Associations Of Abdominal Pain And Psychosocial Distress Measures With Health-Related Quality-Of-Life In Pediatric Healthy Controls And Irritable Bowel Syndrome, Yan Liu, Erica M Weidler, Miranda A L Van Tilburg, James W Varni, Robert J Shulman May 2021

Associations Of Abdominal Pain And Psychosocial Distress Measures With Health-Related Quality-Of-Life In Pediatric Healthy Controls And Irritable Bowel Syndrome, Yan Liu, Erica M Weidler, Miranda A L Van Tilburg, James W Varni, Robert J Shulman

Faculty, Staff and Students Publications

BACKGROUND: Children with irritable bowel syndrome (IBS) have lower health-related quality-of-life (HRQOL) than healthy controls (HC). Abdominal pain and psychosocial distress are negatively associated with HRQOL, although their relative effect is unclear.

AIM: The aim of this study was to compare the relative associations of abdominal pain and psychosocial distress with HRQOL in HC and IBS.

STUDY: Baseline abdominal pain, psychosocial distress, and HRQOL measures were obtained from HC and IBS pediatric clinical trial participants. Regression assessed which measures were most strongly associated with Physical and Psychosocial HRQOL separately by group. Interaction analyses examined group differences in the associations of …


Mortality In Hospitalized Patients With Cancer And Coronavirus Disease 2019: A Systematic Review And Meta-Analysis Of Cohort Studies, Aakash Desai, Rohit Gupta, Shailesh Advani, Lara Ouellette, Nicole M Kuderer, Gary H Lyman, Ang Li May 2021

Mortality In Hospitalized Patients With Cancer And Coronavirus Disease 2019: A Systematic Review And Meta-Analysis Of Cohort Studies, Aakash Desai, Rohit Gupta, Shailesh Advani, Lara Ouellette, Nicole M Kuderer, Gary H Lyman, Ang Li

Library Staff Publications

BACKGROUND: Heterogeneous evidence exists on the effect of coronavirus disease 2019 (COVID-19) on the clinical outcomes of patients with cancer.

METHODS: A systematic review was performed using the Medline, Embase, and CENTRAL databases and the World Health Organization Novel Coronavirus website to identify studies that reported mortality and characteristics of patients with cancer who were diagnosed with COVID-19. The primary study outcome was mortality, defined as all-cause mortality or in-hospital mortality within 30 days of initial COVID-19 diagnosis. The pooled proportion of mortality was estimated using a random-effects model, and study-level moderators of heterogeneity were assessed through subgroup analysis and …


The Role Of Pag1 In The Activated B-Cell Subtype Of Diffuse Large B-Cell Lymphoma, Jared Henderson May 2021

The Role Of Pag1 In The Activated B-Cell Subtype Of Diffuse Large B-Cell Lymphoma, Jared Henderson

Dissertations and Theses (Open Access)

Diffuse Large B Cell Lymphoma (DLBCL) is the most common aggressive hematologic malignancy in adults, but despite recent advances in treatment, many patients today still face poor outcomes. Of the two types of DLBCL, activated B-cell (ABC) and germinal center B-cell (GCB), patients diagnosed with the ABC subtype especially face a lack of effective treatment options. Unlike GCB-DLBCL, ABC-DLBCL is characterized by chronic antigen-driven signaling by the B-cell receptor (BCR), indicating an escape from immunologic tolerance mechanisms that normally regulate self-reactive B cells. While recent therapies have focused on inhibiting the kinases that propagate BCR signaling with mixed success, we …


N-3 Fatty Acid Biomarkers And Incident Type 2 Diabetes: An Individual Participant-Level Pooling Project Of 20 Prospective Cohort Studies, Frank Qian, Andres V Ardisson Korat, Fumiaki Imamura, Matti Marklund, Nathan Tintle, Jyrki K Virtanen, Xia Zhou, Julie K Bassett, Heidi Lai, Yoichiro Hirakawa, Kuo-Liong Chien, Alexis C Wood, Maria Lankinen, Rachel A Murphy, Cecilia Samieri, Kamalita Pertiwi, Vanessa D De Mello, Weihua Guan, Nita G Forouhi, Nick Wareham, Interact Consortium Frank B Hu, Ulf Riserus, Lars Lind, William S Harris, Aladdin H Shadyab, Jennifer G Robinson, Lyn M Steffen, Allison Hodge, Graham G Giles, Toshiharu Ninomiya, Matti Uusitupa, Jaakko Tuomilehto, Jaana Lindström, Markku Laakso, David S Siscovick, Catherine Helmer, Johanna M Geleijnse, Jason H Y Wu, Amanda Fretts, Rozenn N Lemaitre, Renata Micha, Dariush Mozaffarian, Qi Sun May 2021

N-3 Fatty Acid Biomarkers And Incident Type 2 Diabetes: An Individual Participant-Level Pooling Project Of 20 Prospective Cohort Studies, Frank Qian, Andres V Ardisson Korat, Fumiaki Imamura, Matti Marklund, Nathan Tintle, Jyrki K Virtanen, Xia Zhou, Julie K Bassett, Heidi Lai, Yoichiro Hirakawa, Kuo-Liong Chien, Alexis C Wood, Maria Lankinen, Rachel A Murphy, Cecilia Samieri, Kamalita Pertiwi, Vanessa D De Mello, Weihua Guan, Nita G Forouhi, Nick Wareham, Interact Consortium Frank B Hu, Ulf Riserus, Lars Lind, William S Harris, Aladdin H Shadyab, Jennifer G Robinson, Lyn M Steffen, Allison Hodge, Graham G Giles, Toshiharu Ninomiya, Matti Uusitupa, Jaakko Tuomilehto, Jaana Lindström, Markku Laakso, David S Siscovick, Catherine Helmer, Johanna M Geleijnse, Jason H Y Wu, Amanda Fretts, Rozenn N Lemaitre, Renata Micha, Dariush Mozaffarian, Qi Sun

Children’s Nutrition Research Center Staff Publications

Objective: Prospective associations between n-3 fatty acid biomarkers and type 2 diabetes (T2D) risk are not consistent in individual studies. We aimed to summarize the prospective associations of biomarkers of α-linolenic acid (ALA), eicosapentaenoic acid (EPA), docosapentaenoic acid (DPA), and docosahexaenoic acid (DHA) with T2D risk through an individual participant-level pooled analysis.

Research design and methods: For our analysis we incorporated data from a global consortium of 20 prospective studies from 14 countries. We included 65,147 participants who had blood measurements of ALA, EPA, DPA, or DHA and were free of diabetes at baseline. De novo harmonized analyses were performed …


Breast Cancer Risk For Female Relatives Of Male Breast Cancer Patients With Negative Brca1/2 Testing, Emily Martin May 2021

Breast Cancer Risk For Female Relatives Of Male Breast Cancer Patients With Negative Brca1/2 Testing, Emily Martin

Dissertations and Theses (Open Access)

Risk models exist to estimate a female’s lifetime risk of breast cancer in the absence of a hereditary predisposition to cancer, namely Hereditary Breast and Ovarian Cancer syndrome. These risk models consider various factors such as reproductive history and family history, but few models take a family history of male breast cancer into account. This study aims to evaluate if prevalence of breast cancer among female relatives is higher when there is a family history of male breast cancer in the context of uninformative BRCA1 and BRCA2 testing. This information may aid in the process of risk assessments for patients …


Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele May 2021

Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele

Dissertations and Theses (Open Access)

Although rare, variant downgrades from a pathogenic/likely pathogenic (P/LP) variant to a variant of uncertain significance can have a significant impact on patients and their families in the clinical cancer setting. However, there is a lack of literature about how to approach these potentially challenging cases as a genetic counselor. Therefore, we aimed to characterize genetic counselors’ experiences, approach, and practices to variant downgrade cases using an online survey. The survey asked participants how they would approach variant downgrade scenarios involving the CDH1 or ATM genes with variable family histories. Genetic counselors appear to be united in whether they would …


Investigating Mechanisms In Nociceptors Driving Ongoing Activity And Ongoing Pain, Elia Lopez May 2021

Investigating Mechanisms In Nociceptors Driving Ongoing Activity And Ongoing Pain, Elia Lopez

Dissertations and Theses (Open Access)

Ongoing (apparently spontaneous) pain at rest is a major complaint of patients suffering from many forms of acute and chronic pain, including acute and persistent postsurgical pain. Accumulating evidence suggests ongoing activity in nociceptors is a major driver of ongoing pain. Ongoing activity can be generated in sensory neurons in the absence of sensory generator potentials if one or more of three neurophysiological alterations occur – prolonged depolarization of resting membrane potential (RMP), hyperpolarization of action potential (AP) threshold, and/or increased amplitude of depolarizing spontaneous fluctuations of membrane potential (DSFs) to bridge the gap between RMP and AP threshold. Cellular …


Exploring Motivational Factors To Pursue Genetic Counseling And Testing In Adolescent And Young Adult Cancer Patients, Megan Morand May 2021

Exploring Motivational Factors To Pursue Genetic Counseling And Testing In Adolescent And Young Adult Cancer Patients, Megan Morand

Dissertations and Theses (Open Access)

Adolescent and young adult (AYA) cancer patients face a unique set of challenges when navigating cancer treatment and survivorship. For many patient populations, motivational factors to pursue genetic counseling/testing have been described, but these motivational factors in AYA cancer patients have yet to be explored. The goal of this study was to describe AYA cancer patients’ decision-making process, including motivational factors and barriers as it relates to genetic counseling/testing. We conducted a qualitative study consisting of semi-structured interviews with 30 individuals from the AYA Program at MD Anderson Cancer Center who attended or were referred to a genetic counseling appointment. …


Computational Approaches To Delineate Transcriptional And Functional Heterogeneity In Pancreatic Cancer, Sanjana Srinivasan May 2021

Computational Approaches To Delineate Transcriptional And Functional Heterogeneity In Pancreatic Cancer, Sanjana Srinivasan

Dissertations and Theses (Open Access)

Pancreatic ductal adenocarcinoma (PDAC) is an incurable disease characterized by poor survival, dense desmoplastic stroma and activating mutations in KRAS (>90%). These tumors are highly complex ecosystems composed of molecularly distinct sub-populations that exhibit a spectrum of genetic features and associated phenotypes. Despite recent advances in the transcriptomic characterization of PDAC into at least two tumor subtypes, this alone has been insufficient to define more specific patterns of oncogenic dependency. To fully leverage advancements in next generation sequencing and functional genomics, we have sought to establish computational methodologies to aid in refined target discovery, and to develop a novel …


Engineering B Cells For Use In Immunotherapy And Cancer, Emily Ensley May 2021

Engineering B Cells For Use In Immunotherapy And Cancer, Emily Ensley

Dissertations and Theses (Open Access)

B cells can be divided into effector and regulatory immune cells. While effector B cells are key drivers of humoral immunity due to their ability to generate antibodies specific to pathogens, regulatory B cells (Bregs) have recently been shown to control inflammatory responses in multiple diseases through the production of anti-inflammatory cytokines, including interleukin (IL)-10, IL-35 and transforming growth factor-beta (TGF-b). Ex vivo expansion of B cells has been challenging due to their tendency to undergo apoptosis in culture. Thus, creating a successful expansion protocol with exceptional viability will open the door for B cells to be used directly for …


Increased Oxidative Phosphorylation In An Ipsc- Derived Model Of Rothmund-Thomson Syndrome Associated Osteosarcomagenesis, Brittany Jewell May 2021

Increased Oxidative Phosphorylation In An Ipsc- Derived Model Of Rothmund-Thomson Syndrome Associated Osteosarcomagenesis, Brittany Jewell

Dissertations and Theses (Open Access)

Osteosarcoma is the most common bone malignancy in children and adolescents worldwide. Patients with Type II Rothmund-Thomson Syndrome (RTS) are highly predisposed to develop osteosarcoma, with 30% of patients in the largest cohort study developing osteosarcoma. Patients with Type II RTS have biallelic mutations in the DNA helicase RECQL4, which has been shown to have mitochondrial functions that include DNA replication and repair. We describe the generation of 12 induced pluripotent stem cell lines (iPSCs) from two paired RTS patient/ parental control (Family) sets. These iPSCs were validated, then differentiated to the bone precursor, mesenchymal stem cells (MSCs). After verification …


Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane May 2021

Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane

Dissertations and Theses (Open Access)

Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other demographic or clinical information correlated to ES approval and obtainment. To do this, a retrospective chart and clinical database review was completed on patients seen at a tertiary care center and community-based clinic. Patient demographics, clinical indications, and testing recommendations and outcomes were used to assess ES approval and obtainment. We found that …


Unraveling Host-Gut Microbiota Dialogue And Its Impact On Response To Immune Checkpoint Blockade, Alexandria Cogdill May 2021

Unraveling Host-Gut Microbiota Dialogue And Its Impact On Response To Immune Checkpoint Blockade, Alexandria Cogdill

Dissertations and Theses (Open Access)

Cancer is a disease with only one degree of separation, affecting one in two men and one in three women in their lifetimes; accounting for 1 of every 6 deaths. While cancer mortality rates continue to improve, incidence rates are expected to rise and shift through 2050 due to epidemiological and demographic transitions worldwide. As such, it is imperative to continue to investigate and improve our understanding of both disease etiology and hallmarks of response to treatment. Currently, conventional therapies include, but are not limited to, surgery, chemotherapy, and radiotherapy. However, within the past decade, major advances have been made …


Molecular Drivers Of Bladder Cancer Motility, Bryan Wehrenberg May 2021

Molecular Drivers Of Bladder Cancer Motility, Bryan Wehrenberg

Dissertations and Theses (Open Access)

Bladder cancer (BC) progression is measured by the degree of tumor cell invasion into the bladder wall and dissemination to distant sites. The study of BC cell motility will both enable development of anti-invasion therapeutics to limit progression of early-stage disease and improve our understanding of the metastatic process which drives patient mortality in BC. BCs display a great deal of intertumoral heterogeneity, and can be divided into basal and luminal subtypes, which are biologically and clinically distinct entities. Here, I examine the invasion phenotypes of BC as a function of both subtype and epithelial to mesenchymal transition (EMT) status. …


A Fully-Automated, Deep Learning-Based Framework For Ct-Based Localization, Segmentation, Verification And Planning Of Metastatic Vertebrae, Tucker Netherton, Tucker James Netherton May 2021

A Fully-Automated, Deep Learning-Based Framework For Ct-Based Localization, Segmentation, Verification And Planning Of Metastatic Vertebrae, Tucker Netherton, Tucker James Netherton

Dissertations and Theses (Open Access)

Palliative radiotherapy is an effective treatment for the palliation of symptoms caused by vertebral metastases. Visible evidence of disease is localized on medical images as part of the treatment planning process. However, complicating factors such as time pressures, anatomic variants in the spine, and similarities in adjacent vertebrae are associated with wrong level treatments of the spine. In addition, erroneous manual contouring of anatomic structures is a major failure mode in radiotherapy treatment planning.

The purpose of this study is to mitigate the challenges associated with treatment planning of the spine by automating the treatment planning process for three-dimensional conformal …


Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic May 2021

Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic

Dissertations and Theses (Open Access)

The genetic counseling (GC) community has faced criticism concerning the duality of promoting patient autonomy while advocating for individuals with disabilities. Research suggests that focusing on the education of GC students could ensure GCs feel prepared to have conversations about disability, as well as strengthen the relationship with the disability community. This study aimed to evaluate the landscape of GC disability awareness education to identify gaps and strengths. The study also aimed to assess attitudes and perspectives of GCs and the disability community to identify content that should be included in GC student’s disability awareness curriculum. GCs and members of …


Investigating Barriers Experienced By Underrepresented Minorities In Becoming A Competitive Genetic Counseling Applicant, Katie Huang May 2021

Investigating Barriers Experienced By Underrepresented Minorities In Becoming A Competitive Genetic Counseling Applicant, Katie Huang

Dissertations and Theses (Open Access)

Representation for both racial/ethnic and gender identity minorities in genetic counseling (GC) remains the lowest among similar healthcare professions. Barriers that underrepresented minority (URM) individuals face in becoming a competitive GC applicant have not yet been described. Academic capital (AC) is a theoretical framework describing the social processes necessary for individuals to navigate and succeed in higher education. This study aimed to characterize barriers experienced by applicants who self-identify as underrepresented and to explore how AC could identify areas for intervention. Prospective GC applicants for the 2021/2022 cycles were recruited to complete an anonymous online survey in Qualtrics through a …


Rare Variant Association Studies In Crohn’S Disease And Colorectal Cancer: Methods And Applications, Jiun-Sheng Chen May 2021

Rare Variant Association Studies In Crohn’S Disease And Colorectal Cancer: Methods And Applications, Jiun-Sheng Chen

Dissertations and Theses (Open Access)

Genetic factors account for a substantial portion of Crohn’s disease and colorectal cancer (CRC) risk. Patients with Crohn’s disease, a condition that causes chronic inflammation of the gastrointestinal tract, are at increased risk of colorectal cancer morbidity and mortality. Genome-wide association studies using single marker approaches have identified loci responsible for these diseases, but disease susceptibility from rare variants is incompletely understood. This dissertation includes three chapters, two association studies for Crohn’s disease and CRC, and a statistical method to improve the power of statistical tests.

For Crohn’s disease, we performed targeted sequencing of 101 genes in 205 children with …


Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier May 2021

Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier

Dissertations and Theses (Open Access)

Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. Ninety-nine patients with an ultrasound anomaly participated in an anonymous, cross-sectional, research survey assessing coping strategies, factors influencing the genetic testing decision, and demographic variables. After multivariable analysis, the desire for directive counseling regarding testing was correlated with …


Improving Treatment Of Local Liver Ablation Therapy With Deep Learning And Biomechanical Modeling, Brian Anderson, Kristy Brock, Laurence Court, Carlos Eduardo Cardenas, Erik Cressman, Ankit Patel May 2021

Improving Treatment Of Local Liver Ablation Therapy With Deep Learning And Biomechanical Modeling, Brian Anderson, Kristy Brock, Laurence Court, Carlos Eduardo Cardenas, Erik Cressman, Ankit Patel

Dissertations and Theses (Open Access)

In the United States, colorectal cancer is the third most diagnosed cancer, and 60-70% of patients will develop liver metastasis. While surgical liver resection of metastasis is the standard of care for treatment with curative intent, it is only avai lable to about 20% of patients. For patients who are not surgical candidates, local percutaneous ablation therapy (PTA) has been shown to have a similar 5-year overall survival rate. However, PTA can be a challenging procedure, largely due to spatial uncertainties in the localization of the ablation probe, and in measuring the delivered ablation margin.

For this work, we hypothesized …


Genetics In The Nicu: Nurses’ Perceived Knowledge And Desired Education, Kathleen Shields May 2021

Genetics In The Nicu: Nurses’ Perceived Knowledge And Desired Education, Kathleen Shields

Dissertations and Theses (Open Access)

A large proportion of infants admitted to neonatal intensive care units (NICUs) have genetic conditions. NICU nurses play an important role in providing comprehensive care to these patients and their families. Previous research has demonstrated gaps exist in the genetics knowledge of nurses and that they lack comfort applying genetics information to clinical practice, but no research has been done assessing the knowledge of or comfort with genetics of NICU nurses specifically. NICU nurses (n=122) completed an online survey assessing their perceived knowledge of genetics, comfort with clinical scenarios involving genetics, and desired genetics education. Participants reported the highest levels …


Investigating Diffusion Tensor Imaging Correlates Of Cognitive Impairment In Idiopathic Normal Pressure Hydrocephalus And Alzheimer's Disease, Omar Hasan, Omar Hasan May 2021

Investigating Diffusion Tensor Imaging Correlates Of Cognitive Impairment In Idiopathic Normal Pressure Hydrocephalus And Alzheimer's Disease, Omar Hasan, Omar Hasan

Dissertations and Theses (Open Access)

Modest expansion of the human brain cerebrospinal fluid (CSF)-filled ventricles is normal with aging, and because of this, it can be difficult for physicians to accurately diagnose and treat enlarged ventricles (ventriculomegaly), called hydrocephalus1 (fluid or water in the brain) Ventriculomegaly occurs due to an obstruction (such as a blood clot or tumor), or a change in CSF absorption2. Primary hydrocephalus, also called idiopathic normal pressure hydrocephalus (iNPH), is non-obstructive and may be comorbid with other neurodegenerative diseases such as Alzheimer’s disease (AD) or frontotemporal dementia (FTD). Clinically, it can be difficult to tell whether the pathophysiological …