Translational Medical Research Commons^™

Communicating Unexpected Genetic Information With Family Members: A Multimethod Study Of Secondary Findings Recipients, Julie Chevalier Sapp

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Medically-actionable secondary genomic findings (SF) can be life- preserving or life-prolonging for recipients but this benefit can only extend to family members if this information is shared with relatives. How SF recipients communicate this important genetic information with relatives, barriers and facilitators to this process, and SF recipients’ lived experiences in communicating about their results over time remain largely unknown. Family communication is required for relatives of SF recipients to access cascade testing and the potential benefits of enhanced screening and management. Applying behavioral and implementation science theories and providing rich and deep descriptions of SF recipients’ lived experiences …

Virtual Education Implementation For Children With Autism Spectrum Disorders Amidst The Covid-19 Pandemic, Monika Sinha-Bhamra

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: The COVID-19 pandemic led to widespread school closures in the Washington DC metropolitan region, necessitating a shift from traditional in-person education to virtual platforms. The context was significantly influenced by the evolving pandemic and its impact on the region's COVID-19 positive rates, with the Washington DC region facing some of the highest positive rates in 2020. These escalating positive rates posed substantial challenges to planning and implementing in-person learning, primarily driven by concerns for public health and safety. The region's persistently low percentages of in-person learning made it one of the worst in the country regarding the provision of …

Understanding Coordinated Specialty Care Best Practice Through Fidelity Practices: A Qualitative Exploration, Halley Read

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Coordinated Specialty Care (CSC) is a multidisciplinary care model for providing care to youth and young adults having their first episode of psychosis. While outcomes of CSC effectiveness are overwhelmingly positive, and widespread implementation has occurred in all US states and territories, what is CSC best practice regarding components and fidelity to the model is not clear. CSC implementation is well documented from a fidelity to the model standpoint, but the highly variable fidelity practices and versions of the model are not well understood. Nor are the experiences of those who deliver or receive care. Adding to the complexity …

The Neuroadvocacy Toolkit: A Knowledge Translation Strategy To Strengthen Food Fortification Policies To Prevent Neural Tube Defects In Latin American Countries. A Mixed-Method Study, Kemel A. Ghotme

Doctor of Philosophy in Translational Health Sciences Dissertations

Background. Neural tube defects are one of the leading congenital malformations that affect children in Latin America and worldwide, leading to pregnancy terminations, morbidity, mortality, and long-term disability. The most cost-effective and equitable way to prevent them is by implementing public health policies for food fortification with folic acid. However, a lack of knowledge translation strategies partly accounts for the incomplete enactment, enforcement, and scaling-up of mandatory fortification. There is no evidence in the scientific literature of studies attempting to identify the factors contributing to the development and implementation of knowledge translation strategies aiming to influence policymakers’ decisions regarding mandatory …

Addressing The Underdiagnosis Of Familial Hypercholesterolemia: A Mixed Methods Study Exploring The Knowledge And Practice Behaviors Of Cardiology Healthcare Providers, Isha Kalia Ms, Mph, Cgc

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Familial Hypercholesterolemia (FH) is a common genetic disorder that is vastly underdiagnosed and undertreated. FH causes lifelong elevated low-density lipoprotein cholesterol, resulting in an increased risk for coronary heart disease, myocardial infarctions, and sudden cardiac death. Cardiology healthcare providers (CHCPs) are in an ideal position to not only screen cardiology patients for FH but also to diagnose and manage FH patients.

Objectives: Describe the practice behaviors of CHCPs in the screening, diagnosis, and management of FH, as well as gain a deeper understanding of the perspectives of CHCPs regarding FH screening and diagnostic interventions that can be implemented in …

Lost In Translation? Communicating Nutrition Science, Lindsay Yarabek Datlow

Doctor of Philosophy in Translational Health Sciences Dissertations

Diet is directly correlated with overall health; therefore, nutrition is a critical piece of the obesity-epidemic puzzle. The news media has become a primary source for nutrition information yet results from International Food Information Council surveys indicate that the majority of Americans view the nutrition news they read as inconsistent and confusing. Very recent inquiry provides empirical evidence that nutrition confusion could be fueled by media. Nutrition confusion has been causally linked to “nutrition backlash,” which is complete disregard for even the most strongly supported nutrition advice. Understanding how nutrition research is translated in the news media and the mechanisms …

Characterization And Assessment Of Barriers And Facilitators To The Decision-Making Process For Blood And Blood Donor Safety In The United States: A Collective Case Study, Lauren A. Crowder

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Over 16 million blood components are transfused to patients in need every year in the United States (Jones et al., 2021). Because of the reliance on human blood donors, the donation and transfusion of blood will always be associated with some level of risk for both donors and recipients; the tolerability of these risks may vary from stakeholder to stakeholder. While the U.S. Food and Drug Administration (FDA) concedes that attaining a blood supply with zero risk for transmission of infectious diseases may be unattainable (U.S. Food and Drug Administration, 2019), they continue to strive for the lowest …

Barriers And Facilitators To Implementing Simulation-Based Translational Research: A Qualitative Study, Lisa Ann Paganotti

Doctor of Philosophy in Translational Health Sciences Dissertations

Translational simulation research has the potential to inform the way simulation is used to impact patient care and patient outcomes. Understanding how to approach translational simulation and the barriers and facilitators that can be used throughout the process can inform novice simulation and translational researchers. This qualitative dissertation sought to answer the following research questions: How do simulation experts describe the barriers and facilitators to implementing translational simulation programs? How do simulation experts describe their various approaches to implementing translational simulation programs? What recommendations do simulation experts describe for overcoming barriers to implementing translational simulation programs? The key findings include …

The Contribution Of Patient Reported Outcome Measures To Shared Decision-Making In Radiation Oncology At A Midwestern Comprehensive Cancer Center, Kellie Bodeker

Doctor of Philosophy in Translational Health Sciences Dissertations

Background. Chronic diseases, such as lung cancer, require a provider-patient relationship developed over time. This relationship fosters shared decision-making (SDM), a collaborative, dynamic information exchange and analysis between provider and patient regarding treatment and desired outcomes. Established benefits to SDM include an improved quality of life and decreased anxiety and depression. Despite established benefits, recent research suggests radiation oncologists are not engaging in SDM. A decision-aid tool utilizing patient reported outcome measures may increase SDM between radiation oncologists and patients with lung cancer. Patient-reported outcome measures, wherein the patient provides direct assessment of their health and quality of life, …

Facilitating Aging In Place And Community By Empowering Participation In Society: A Mixed Methods Study On The Co-Development Of A Theory Of Change With Suburban-Dwelling Older Adults, Emily Balog

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Baby boomers are steadily aging in America and represent an increased population in nearly every sector. In suburban communities today, older adults make up 51% of the population. Ninety-five percent of all older adults live in community settings and have expressed a desire to avoid costly institutionalization and to remain in their homes and communities, also called aging in place. Older adults in moderate income suburban communities are increasingly at a higher risk for institutionalization should their health or finances decline as the access to their wealth is within the home in which they dwell. This process …

Bridging The Knowledge-To-Action Gap: A Qualitative Description Of The Use Of Knowledge Translation In Entry-Level Doctor Of Occupational Therapy Capstones, Maria Martino

Doctor of Philosophy in Translational Health Sciences Dissertations

Although developments in the use of knowledge translation (KT) in occupational therapy practice and research are emerging, a gap in education remains. A recent revision of accrediting standards for doctor of occupational therapy (OTD) programs now specifies scholarly study that advances KT. However, little is understood of how this change in accreditation standards is being implemented, nor of its effect on OTD capstones. The purpose of this study was to describe how KT is reflected and can be promoted in entry-level OTD capstones. A descriptive qualitative design was used with semi-structured individual interviews of OTD faculty as well as content …

Diagnosis And Management Of Adolescents With Polycystic Ovary Syndrome In Primary Care: A Mixed Method Study To Explore Provider Behaviors And Barriers And Facilitators To Practice, J. Leocadia Conlon

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder in women of reproductive age, associated with complications of metabolic, reproductive, and psychological health. Adolescence is an optimal time for early identification of PCOS in order to mitigate long-term health risks. Pediatric primary care providers (pedPCPs) are the first-line for early identification and coordination of longterm comprehensive management. Limited information exists to describe how PCOS is addressed in primary care and if adolescent-specific guidelines are applied.

Objectives: Describe practice behaviors of pedPCPs in the diagnosis and management of PCOS, and identify barriers and facilitators to inform future interventions to optimize …

Assessing Pre-Exposure Prophylaxis Screening And Need Among Men Who Have Sex With Men And Transgender Persons Of Color: A Mixed Methods Case Study Of The Impact Dmv Demonstration Project, Brittany C. Wilbourn

Doctor of Philosophy in Translational Health Sciences Dissertations

Men who have sex with men (MSM) and transgender persons of color experience disproportionate, multi-level HIV risks. Pre-exposure prophylaxis (PrEP) is an evidence-based HIV prevention strategy; however, access to PrEP has been limited among this population. PrEP demonstration projects that target MSM and transgender persons and test the implementation of PrEP in real-world settings are underway. However, PrEP demonstration projects specific to MSM and transgender persons of color are limited and most demonstration projects do not consider the impact of the implementation process or organization contextual characteristics on PrEP outcomes. The Improve Measurable Participation and Access to Care and Treatment …

Translating Assessments Into Practice Using Principles Of Patient-Centered Measurement: An Exemplar Using The Coma Recovery Scale-Revised, Jennifer Ann Craft Weaver

Doctor of Philosophy in Translational Health Sciences Dissertations

Background: Disorders of consciousness (DoC) include different states (e.g., comatose, vegetative state/unresponsive wakefulness syndrome, minimally conscious state (MCS), and emerging minimally conscious state (eMCS)) following a severe brain injury. Yet, effective communication about treatment of patients with DoC is often inhibited because family caregivers and rehabilitation practitioners do not interpret recovery of consciousness in the same way (Epstein & Street, 2007; Weaver et al., 2018). Because a person may remain in a disordered state of consciousness for as long as two decades and receive multiple episodes of rehabilitation during that time, ensuring clear communication among family caregivers and rehabilitation practitioners …

Modelling Cross-Disciplinary Integration In Fda Multidisciplinary And Interdisciplinary Reviews For New Drug Products: A Phenomenological Descriptive Comparative Case Study, Kevin Bugin

Doctor of Philosophy in Translational Health Sciences Dissertations

Cross-disciplinary integration is a key feature of interdisciplinary research and the collaborative form is often one of the desired outcomes of Team Science endeavors. In 2019 the FDA began rolling out a new interdisciplinary approach to their cross-disciplinary assessment of marketing applications, with the key feature being integrated, collaborative review documents (Woodcock et al., 2020). FDA’s assessment of new drug products to allow them to enter the marketplace is a critical translational activity to protect the US public’s health that requires team-based integration and transparency (Woodcock, 2018). And, while increased cross-disciplinary integration through enhanced collaboration and communication is sought through …

Underreporting Of Patient-Reported Outcomes In Myeloproliferative Neoplasms Clinical Trials, Anthony Messina, Quentin O'Brien

Clinical Research and Leadership Faculty Posters and Presentations

Introduction

Improvements in overall survival (OS) and quality of life (QoL) are clinically relevant outcomes that should guide clinical decision-making. Patients with MPNs can live with their disease for a long period of time, which increases the importance of understanding the impact of treatment in regards to a patients’ Health-Related QoL. Therefore, including PROs in clinical trials has become paramount in facilitating informed treatment decisions made by health care providers and patients. Furthermore, the FDA encourages the implementation of patient-centric measures in clinical trials.

Objective

We aimed to evaluate the frequency at which PRO measures are utilized as study endpoints …

Getting Sexual And Gender Minority Health “Into The Brick And Mortar”: A Mixed Methods Implementation Study, Mandi Pratt-Chapman

Doctor of Philosophy in Translational Health Sciences Dissertations

Sexual and gender minorities (SGM) have unique health risks and health care needs, but medical students receive little training on SGM health (Obedin-Maliver, et al., 2011). This mixed methods study sought to learn from curricular champions in diverse settings to apply lessons learned at the George Washington University (GW). Exploratory models that included eight potential predictor variables for six criterion variables were tested using multiple linear regression. Criterion variables were: knowledge, attitudes, and clinical preparedness measured by the Lesbian, Gay, Bisexual, and Transgender Development of Clinical Skills Scale (LGBT-DOCSS; Bidell, 2017); attitudes measured by the Attitudes Toward LGBT Patients Scale …

Dual-Display Laparoscopic Laser Speckle Contrast Imaging For Real-Time Surgical Assistance, Jaepyeong Cha, Corey Zheng, Lung Wai Lau

Pediatrics Faculty Publications

Laser speckle contrast imaging (LSCI) utilizes the speckle pattern of a laser to determine the blood flow in tissues. The current approaches for its use in a clinical setting require a camera system with a laser source on a separate optical axis making it unsuitable for minimally invasive surgery (MIS). With blood flow visualization, bowel viability, for example, can be determined. Thus, LSCI can be a valuable tool in gastrointestinal surgery. In this work, we develop the first-of-its-kind dual-display laparoscopic vision system integrating LSCI with a commercially available 10mm rigid laparoscope where the laser has the same optical axis as …

Extending The Phenotypic Spectrum Of Sengers Syndrome: Congenital Lactic Acidosis With Synthetic Liver Dysfunction., David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon

Pathology Faculty Publications

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of both chorioamnionitis and cardiogenic shock. Initial metabolic labs demonstrated a severe lactic acidosis prompting genetic testing which revealed a homozygous pathogenic variant for Sengers syndrome in

Transformative And Translational: Supporting A New Phd Program, Alexandra Gomes, Anne Linton

Himmelfarb Library Faculty Posters and Presentations

No abstract provided.

Chemogenetic Stimulation Of The Hypoglossal Neurons Improves Upper Airway Patency, Thomas Curado, Kenneth Fishbein, Huy Pho, Michael Brennick, Olga Dergacheva, David Mendelowitz, +Several Additional Authors

Pharmacology and Physiology Faculty Publications

Obstructive sleep apnea (OSA) is characterized by recurrent upper airway obstruction during sleep. OSA leads to high cardiovascular morbidity and mortality. The pathogenesis of OSA has been linked to a defect in neuromuscular control of the pharynx. There is no effective pharmacotherapy for OSA. The objective of this study was to determine whether upper airway patency can be improved using chemogenetic approach by deploying designer receptors exclusively activated by designer drug (DREADD) in the hypoglossal motorneurons. DREADD (rAAV5-hSyn-hM3(Gq)-mCherry) and control virus (rAAV5-hSyn-EGFP) were stereotactically administered to the hypoglossal nucleus of C57BL/6J mice. In 6–8 weeks genioglossus EMG and dynamic MRI …

Lysosomal Storage Diseases, Carlos Ferreira, William Gahl

Pediatrics Faculty Publications

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency …

Effect Of Arginine On Oligomerization And Stability Of N-Acetylglutamate Synthase., N Haskins, A Mumo, P H Brown, Mendel Tuchman, Hiroki Morizono, L Caldovic

Genomics and Precision Medicine Faculty Publications

N-acetylglutamate synthase (NAGS; E.C.2.3.1.1) catalyzes the formation of N-acetylglutamate (NAG) from acetyl coenzyme A and glutamate. In microorganisms and plants, NAG is the first intermediate of the L-arginine biosynthesis; in animals, NAG is an allosteric activator of carbamylphosphate synthetase I and III. In some bacteria bifunctional N-acetylglutamate synthase-kinase (NAGS-K) catalyzes the first two steps of L-arginine biosynthesis. L-arginine inhibits NAGS in bacteria, fungi, and plants and activates NAGS in mammals. L-arginine increased thermal stability of the NAGS-K from Maricaulis maris (MmNAGS-K) while it destabilized the NAGS-K from Xanthomonas campestris (XcNAGS-K). Analytical gel chromatography and ultracentrifugation indicated tetrameric structure of the …

The Role Of Ng2 Proteoglycan In Glioma., Sridevi Yadavilli, Eugene I Hwang, Roger J. Packer, Javad Nazarian

Neurology Faculty Publications

Neuron glia antigen-2 ((NG2), also known as chondroitin sulphate proteoglycan 4, or melanoma-associated chondroitin sulfate proteoglycan) is a type-1 membrane protein expressed by many central nervous system (CNS) cells during development and differentiation and plays a critical role in proliferation and angiogenesis. 'NG2' often references either the protein itself or the highly proliferative and undifferentiated glial cells expressing high levels of NG2 protein. NG2 glia represent the fourth major type of neuroglia in the mammalian nervous system and are classified as oligodendrocyte progenitor cells by virtue of their committed oligodendrocyte generation in developing and adult brain. Here, we discuss NG2 …

A Randomized Controlled Trial Of Exercise In Spinal And Bulbar Muscular Atrophy., Joseph A Shrader, Ilona Kats, Angela Kokkinis, Cris Zampieri, Ellen Levy, Galen O Joe, Joshua G. Woolstenhulme, Bart E Drinkard, Michaele R Smith, Willie Ching, Laboni Ghosh, Derrick Fox, Sungyoung Auh, Alice B Schindler, Kenneth H Fischbeck, Christopher Grunseich

Physical Therapy and Health Care Sciences Faculty Publications

OBJECTIVE: To determine the safety and efficacy of a home-based functional exercise program in spinal and bulbar muscular atrophy (SBMA).

METHODS: Subjects were randomly assigned to participate in 12 weeks of either functional exercises (intervention) or a stretching program (control) at the National Institutes of Health in Bethesda, MD. A total of 54 subjects enrolled, and 50 completed the study with 24 in the functional exercise group and 26 in the stretching control group. The primary outcome measure was the Adult Myopathy Assessment Tool (AMAT) total score, and secondary measures included total activity by accelerometry, muscle strength, balance, timed up …