Medicine and Health Sciences Commons^™

External Validation Of A Machine Learning Model To Predict Postpartum Hemorrhage In A Us Northeastern Healthcare System, Kartik K Venkatesh, Eric Jelovsek, David W Bates, Kathryn J Gray

Faculty, Staff and Students Publications

Introduction: Postpartum hemorrhage (PPH) is a major cause of maternal morbidity and mortality. Timely prediction may prevent adverse maternal outcomes, and efforts are needed to develop accurate predictive tools. A high-performing machine learning model to predict PPH using data from the US Consortium for Safe Labor (CSL) remains to be widely validated in contemporary clinical settings using electronic health record (EHR) data. Our goal was to evaluate the performance of the CSL PPH predictive model using EHR data across a large healthcare system in the Northeastern United States.

Methods: We conducted a retrospective cohort study across eight hospitals in the …

Complex Genomic Rearrangement Involving The Tbx4 Promoter Manifesting With Variable Expressivity In A Five-Generation Family, Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Frank P Edenborough, Rachael E Thompson, Michael J Parker, Carrie Hammond, Shahin Moledina, Justyna A Karolak, Pawel Stankiewicz

Faculty, Staff and Students Publications

Variants involving TBX4 are associated with ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; also known as small patella syndrome), pulmonary arterial hypertension (PAH), and lethal lung developmental disorders. The variability of penetrance and expressivity of TBX4 variants remains a prominent challenge in understanding their genotype–phenotype correlations. We investigated a five‐generation family with 12 affected individuals presenting with isolated ICPPS, lung‐related manifestations with features of ICPPS, and other milder abnormalities. Whole‐genome sequencing was used to identify the causative and putative modifying variants. Wefound a complex genomic rearrangement (CGR) involving the TBX4 promoter and its 5 ′ untranslated region that …

Atrial Cardiomyopathy And Atrial Fibrillation In Different Heart Failure Substrates, Bharat K Kantharia, Lingling Wu, Mohit M Hulsurkar, Kaveh Karimzad, Arti N Shah, Bharat Narasimhan, Xander Ht Wehrens, Dominik Linz, Jordi Heijman

Faculty, Staff and Students Publications

The incidences of AF and heart failure (HF) have been progressively increasing worldwide. These conditions exhibit a strong interdependence, with each exacerbating the other. HF is currently classified based on left ventricular ejection fraction (EF) as HF with reduced, mid-range or preserved EF (HFrEF, HFmrEF or HFpEF, respectively). Atrial cardiomyopathy, also known as atriopathy, involves structural, architectural, contractile, or electrophysiological alterations in the atria, driven by diverse mechanisms stemming from risk factors and comorbidities, including diabetes, hypertension, ischaemic and valvular heart diseases, hypertrophic and dilated cardiomyopathies, as well as various forms of HF. Emerging evidence also implicates infiltrative cardiomyopathies (e.g. …

Nod1 Is A Key Mediator Of Atrial Myopathy In Heart Failure, Marta Gil-Fernández, Almudena Val-Blasco, Andrea Bueno-Sen, Paula Cantolla-Pablo, Carlos Galán-Arriola, Ali Ayaon, Teresa López-Fernández, Yuriana Aguilar-Sanchez, Satadru K Lahiri, José Alberto Navarro-García, Rafael Peinado, Angel Aroca, Miguel Ángel Rubio, José Antonio Blázquez, María Tamayo, Eduardo López-Collazo, Gema Ruiz-Hurtado, Inmaculada Jorge, Jesús Vázquez, Patricia Prieto, Tarik Smani, Antonio Ordoñez, David Filgueiras-Dama, Raúl Moreno, Borja Rivero-Santana, Jorge Nuche, José Jalife, Borja Ibáñez, Carmen Delgado, Lisardo Boscá, Xander H T Wehrens, María Fernández-Velasco

Faculty, Staff and Students Publications

Heart failure (HF)-associated atrial myopathy is driven by complex and poorly understood mechanisms. Emerging evidence suggests that innate immune components contribute to atrial remodeling, yet the role of nucleotide-binding oligomerization domain-containing protein 1 (NOD1) receptors remains unclear.

Methods: NOD1 expression was characterized in atrial myocardium of HF patients (n = 36) and non-failing controls (n = 45) undergoing valve surgery, and in two porcine models of atrial myopathy with divergent ventricular phenotypes: aortic banding (AoB; preserved LVEF) and left atrial infarction (LAI; reduced LVEF). The causal role of NOD1 in atrial remodeling was assessed using genetic (Nod1⁻/⁻) and pharmacological …

High Potency Proton Pump Inhibitor Versus Vonoprazan In Helicobacter Pylori Triple Therapy, Mimi C Tan, Robert L Atmar, David Y Graham

Faculty, Staff and Students Publications

Background: The price of vonoprazan in the United States, as with many newly introduced drugs, is currently high. Here, we examined the cost-effectiveness of vonoprazan clarithromycin triple therapy for treatment of Helicobacter pylori in the United States. We compared cure rates and total treatment costs to achieve ≥ 90% cure with either vonoprazan or proton pump inhibitor (PPI) triple therapy.

Materials and methods: We simulated a theoretical population and compared 4 scenarios comparing vonoprazan 20 mg twice daily or esomeprazole 40 mg twice daily. These included: (1) empiric vonoprazan versus esomeprazole clarithromycin triple therapy, (2) susceptibility-based vonoprazan versus esomeprazole clarithromycin …

The Application Of Interdisciplinary Evidence In Early Childhood Drowning Prevention: A Systems Framework For Universal Basic Aquatic Competency, Acacia Landfield

Master's Projects

Drowning is a leading cause of child death globally, and is the leading cause among children aged 1–4 in the U.S. as well as diverse countries including Bangladesh, Vietnam, Cambodia, parts of India, and China. Among children aged 5–14, drowning ranks third worldwide. In Bangladesh, more than 40 children drown each day, the majority under age 5. U.S. child drowning rates have risen annually since 2019 after seeing virtually no progress for decades. Meanwhile, despite decades of vital prevention efforts, the developmental period of highest risk remains insufficiently addressed as a public health problem.

Using evidence mapping across developmental science, …

Local Lung Delivery Of Ginkgetin For Therapeutic Intervention In Lung Fibrosis, Cimone L. Richardson

Theses and Dissertations

Lung fibrosis (LF) is a progressive, irreversible pathological condition in the lungs that is ultimately fatal. Current drug treatments (nintedanib, pirfenidone, and nerandomilast) slow disease progression but cause significant systemic adverse effects due to oral administration. Transient receptor potential vanilloid 4 (TRPV4), a mechanosensitive ion channel, may play a role in LF progression and represent a novel anti-LF target. Ginkgetin (GKT), a natural biflavonoid, is a potent TRPV4 inhibitor with anti-inflammatory and antioxidative properties. Local lung delivery could achieve high local lung concentrations while minimizing systemic exposure. Accordingly, this project evaluates GKT's therapeutic intervention efficacy in LF via local lung …

Fluorescein Loading Of Paa Nanoparticles For Tme Release Studies, Alexia T. Apablaza, Rachel Rigsby

Science University Research Symposium (SURS)

pH-responsive nanoparticles are designed to release drugs in the mildly acidic environment of tumors (pH ≈ 6.5) while remaining stable in normal tissue (pH 7.4). In this research, this property will be explored beyond just buffers and will eventually test how upregulated protein and extracellular matrix components found in tumors may impact how these particles perform. The first stage of the project focused on validating a fluorescence-based assay and loading fluorescein into the particles. Fluorescein standard curves were prepared in PBS (pH 7.4) and MES (pH 6.5). Both of the standards (MES and PBS) were highly linear (R² ≥ 0.9988), …

Limited Injury Severity Constrains Therapeutic Evaluation In A Mouse Model Of Mild Indirect Traumatic Optic Neuropathy, Christian S. Corbin

Science University Research Symposium (SURS)

Limited Injury Severity Constrains Therapeutic Evaluation in a Mouse Model of Mild Indirect Traumatic Optic Neuropathy

Christian Corbin, Ching Tzu Yu, Elisabeth Artis, Annie K. Ryan, Sequoia Wade, and Tonia S. Rex

Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, United States

Total (2,372/2500 with spaces)

Purpose: (140)

To evaluate therapeutic effects of Nicotinamide (NMN) and Cyclosporine in a mouse model of mild indirect traumatic optic neuropathy (iTON).

Methods: (915)

Mild iTON induction was accomplished via 3x15 psi air blasts in three-month old C57Bl/6 mice. The animals were anesthetized and placed in a chamber with a hole at the …

Accuracy Of The Phenotypic 1g Test To Detect Mycobacterium Tuberculosis And Drug Resistance From Sputa In The Us-Mexico Border, Mia Aguirre, Doris Ayala, Juan Ignacio Garcia, Yoscelina Estrella Martinez-Lopez, Amberlee Hicks, Nadine M. Chacon, Ashley Gay-Cobb, Alyssa Schami, Selena Zavala-Perez, Blanca I. Restrepo

School of Medicine Publications

Background: With >10 million new tuberculosis (TB) cases/year, a limitation to TB control is the lack of simple and accurate tests for TB diagnosis and drug-susceptibility testing (DST) in endemic regions. We evaluated the accuracy of the first-generation, low-complexity phenotypic TB test (1G test), designed for simultaneous Mtb detection and resistance to isoniazid, rifampicin and moxifloxacin, suitable for resource-limited settings.

Methods: A cross-sectional study was conducted using sputa from 426 possible pulmonary TB subjects from two small Mexican cities bordering Texas. The 1G test was compared against phenotypic TB detection tests in the region [acid fast bacilli smear microscopy and …

Adult-Onset Still Disease Triggered By Recent Cytomegalovirus Infection: A Diagnosis Of Exclusion And A Review Of The Literature, Luisa Montoya, Abdel Martinez Borrego, Krystal Simono, Singh Ripudaman, Aramide Tijani, Mangina Sunaina

School of Medicine Publications

Adult-onset Still disease (AOSD) is a rare systemic autoinflammatory disorder characterized by quotidian fever, inflammatory arthritis, evanescent rash, neutrophilic leukocytosis, and hyperferritinemia. Because no pathognomonic diagnostic test exists, diagnosis relies on characteristic clinical features and exclusion of infectious, malignant, and autoimmune disorders. Viral infections, including cytomegalovirus (CMV), have been proposed as potential immunologic triggers in genetically susceptible individuals, although causality remains unproven. We report a 47-year-old Hispanic woman with hypertension and type 2 diabetes mellitus who presented with one week of daily fever, severe diffuse polyarthralgia, sore throat, fatigue, and a persistent erythematous rash that had begun six months earlier. …

Commissioning & Daily Qa Of Converted Linac For Electron Flash, Tomaj Javidtash

Theses and Dissertations

Ultra-high dose rate (FLASH) radiotherapy has demonstrated promising normal tissue sparing in preclinical studies; however, the lack of standardized dosimetry, commissioning, and quality assurance (QA) methodologies remains a major barrier to its reproducible and safe implementation. In particular, conventional clinical commissioning and QA protocols are not directly applicable at FLASH dose rates due to challenges associated with detector response, dose-per-pulse effects, and beam control limitations.

This thesis presents the commissioning of a converted Varian 21EX linear accelerator for electron FLASH operation within the Division of Medical Physics at the Virginia Commonwealth University (VCU) Department of Radiation Oncology. Comprehensive beam characterization …

Reduced Threat-Related Neural Efficiency: A Possible Biomarker For Pediatric Anxiety Disorders, Julia O. Linke, Reut Naim, Simona P. Haller, Parmis Khosravi, Beck Scheinberg, Meghan E. Byrne, Anita Harrewijn, Ellen Leibenluft, Melissa A. Brotman, Anderson M. Winkler, Daniel Samuel Pine

School of Medicine Publications

Objective: Pediatric anxiety disorders are common and predict adult psychopathology, yet current treatments, such as cognitive-behavioral therapy (CBT), produce lasting remission in less than 50% of affected youths. To support the search for improved, mechanistically grounded interventions, this study evaluated neural efficiency, defined as similarity in functional connectivity between a threat task and rest, as a potential biomarker. The study evaluated neural efficiency in relation to anxiety diagnosis and treatment response.

Methods: The authors compared 103 youths with an anxiety disorder diagnosis (mean age, 12.5 years [SD=2.91], 62% female) to 103 youths with no psychiatric diagnosis (mean age, 13.4 years …

Sox11 Overexpression Restores Embryonic Pro-Growth Transcription In Mature Corticospinal Tract Neurons, Eliazbeth Batsel, Zimei Wang, Elizabeth Otten, Syed Roshan, Rabia Mohammad, Paula Pascual, Darby O'Shea, Jose Rosas, Pantelis Tsoulfas, Murray G. Blackmore

Biomedical Sciences Faculty Research and Publications

Neurons in the central nervous system (CNS) display a high capacity for axon growth during early development but lose this ability at a pivotal differentiation stage marked by synaptic maturation, circuit integration, and a profound shift in gene transcription. Once mature, most CNS neurons fail to reverse this transcriptional switch after axon injury, fundamentally constraining their intrinsic capacity for axon regeneration. Here, we show with single-nucleus RNA sequencing that forced expression of the transcription factor Sox11 in mature corticospinal tract (CST) neurons produces large-scale and stable changes in gene expression that are highly enriched for growth-relevant processes, and which strongly …

Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert

Faculty, Staff and Students Publications

Many patients with advanced solid tumors ultimately develop resistance to conventional therapies, with especially limited options for those experiencing rapid progression or poor performance status, highlighting the need for personalized immunotherapies capable of inducing durable responses. In this retrospective case series, we describe the clinical course and outcomes of five adults (4 male, 1 female; median age 51 years [range, 39-62]) with metastatic solid tumors who achieved complete and durable remission following doubly loaded autologous dendritic cell therapy after failure of standard treatments, such as immune checkpoint inhibition, radiation, surgery, or endocrine therapy. Five patients, including prostate adenocarcinoma (n=1), malignant …

Plasma Kynurenine/Tryptophan Ratio As A Sensitive Blood-Based Diagnostic Tool For Tuberculosis: A Diagnostic Accuracy Study Among Children Living With Hiv, Clement G Adu-Gyamfi, Lillian Makhathini, Santiago C Longlax, Alexandra Portillo Varela, Karine Scheuermaier, Ntsiki Sikhondze, Kennedy Otwombe, Andrew Anthony Adjei, Neil Martinson, Alex Kay, Andrew R Dinardo, Anna M Mandalakas, Melinda Suchard

Faculty, Staff and Students Publications

Background: Pediatric tuberculosis (TB) is challenging to diagnose and confirm. The World Health Organization has prioritized development of non-sputum-based diagnostics. We investigated the role of plasma K/T ratio for TB diagnosis among children with and without HIV.

Methodology: Plasma tryptophan and kynurenine concentrations measured via enzyme-linked immunosorbent assay (ELISA) were used to calculate K/T ratios in a nested case-control design with an optimization cohort (the Lung Cohort Study (LCS)) and a validation cohort (the NIH Stool4TB. The discovery cohort included children with incident TB (n = 23) and age- and sex-matched controls (n = 75). The Stool4TB validation …

School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani

Faculty, Staff and Students Publications

No abstract provided.

Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Laura C Lelenwa, Enrique Garcia-Sayan, Kenneth K Liao, Ahmed Hamdi, Todd Lasco, Mayar Al Mohajer

Faculty, Staff and Students Publications

Tropheryma whipplei was identified by plasma microbial cell-free DNA sequencing within 4 days in severe culture-negative endocarditis after antibiotics had already been started. The result supported earlier diagnostic clarification and antimicrobial de-escalation before valve pathology was available, illustrating a practical diagnostic-stewardship role for noninvasive sequencing in high-acuity endocarditis.

Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, Kimberly L Drews, Stephanie T Broyles, Robert Dubin, Laura Q Rogers, Catherine Champagne, Dennis T Villareal, Daniel S Hsia, Leanne M Redman, Corby K Martin

Faculty, Staff and Students Publications

Background: Understanding the impact of nutrition on human aging requires long-term trials in young, healthy, unmedicated adults. As part of the Dietary Approaches for Longevity and Health (DiAL Health) pilot project, we evaluated strategies for recruiting this population for aging-related dietary intervention studies.

Methods: We analyzed recruitment costs to enroll 70 participants (ages 25-49, BMI 22.0-29.9 kg/m2) across two DiAL Health sites and used NHANES data (2017-March 2020) to estimate the proportion of U.S. adults meeting partial trial eligibility. Additionally, a formative study surveyed 492 U.S. adults (≥18 years) to assess interest in aging-focused dietary trials.

Results: Of 2049 applicants …

Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth

Faculty, Staff and Students Publications

Antigenic variation enables immune evasion of pathogens, yet the mechanisms for the rapid change in their antigens without loss of structural and functional features are not fully known. Tick-borne relapsing fever (TBRF) spirochetes of the genus Borrelia can be used as a model because their variable major proteins (Vmps) drive antigenic variation followed by recurrent waves of bacteremia. In this study we generated the genome of Borrelia persica LMU-C01 and evaluated Vmp structure across relapsing fever Borrelia species. Borrelia persica was found to have a genome of 1.7Mb with one linear chromosome, 12 linear and one circular plasmids. Telomeric hairpin …

Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology

Faculty, Staff and Students Publications

Mark Hallett, MD (1943-2025) was a highly influential neurologist in the modern history of movement disorders. Over several decades, his work transformed the field from a predominantly descriptive clinical specialty into a neuroscientific discipline. Through pioneering investigations in neurophysiology, cortical excitability, dystonia, tremors, myoclonus, functional movement disorders, and transcranial magnetic stimulation, Hallett helped establish conceptual frameworks that continue to shape contemporary research and clinical practice. Beyond his scientific contributions, he is recognized as a global mentor and educational ambassador whose influence extended across generations of neurologists and neuroscientists worldwide. This article examines Hallett's dual legacy as both a transformative scientist …

Non-Congenital Hsv-1 Keratitis In An Immunocompetent 9-Month-Old Infant

Faculty, Staff and Students Publications

Isolated, non-congenital herpes simplex virus type 1 (HSV-1) keratitis in immunocompetent infants is exceedingly rare and may be easily misdiagnosed, leading to delays in appropriate antiviral therapy. This case is unique in that it describes HSV-1 keratitis in a healthy 9-month-old infant presenting without systemic illness, initially treated as bacterial conjunctivitis. The patient presented with unilateral eye pain, redness, and corneal opacification. Subsequent evaluation revealed HSV-1 keratitis, and the patient was treated with intravenous acyclovir in combination with topical moxifloxacin and topical ganciclovir, resulting in complete resolution of symptoms within one week. This case adds to the limited literature on …

Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …

Putting The L In Elsi: Legal Methods For Bioethics Research, Anya E R Prince, Benjamin Berkman, Donald Ford, Dov Fox, Christi Guerrini, Amy Koopmann, Natalie Ram, Jessica L Roberts, Kayte Spector-Bagdady, Sonia Suter

Center for Medical Ethics and Health Policy Staff Publications

Lawyers and law professors are increasingly involved in interdisciplinary scientific teams and grant research to answer ethical, legal and policy questions related to biomedical topics. Yet, the methods that lawyers use to conduct legal research and analysis are not always familiar to scientists and social scientists conducting peer review of a proposed project with legal aims or a publication reporting a legal study. To better facilitate interdisciplinary ethical, legal, and social implications collaboration, there is a need to better explain how legal research methodologies can provide robust tools to address a range of nuanced biomedical questions. This paper explores …

Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady

Center for Medical Ethics and Health Policy Staff Publications

Background: Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.

Methods: As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.

Results: Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This might explain recent trends toward the use of government and consortium databases away from private ones. Respondents …

Access To Digital Health Technologies: Personalized Framework And Global Perspectives, Sanjiv M Narayan, Mina K Chung, Demilade Adedinsewo, Luisa C C Brant, Leslie L Davis, David Duncker, Jennifer L Hall, Janet K Han, Carolyn S P Lam, Eldrin Lewis, Joseph Loscalzo, Manlio F Márquez, Vasiliki Rahimzadeh, Fatima Rodriguez, Prashanthan Sanders, Emma Svennberg, Kenneth Stein, Mintu Turakhia, Clyde Yancy, Antonis A Armoundas

Center for Medical Ethics and Health Policy Staff Publications

The emergence and rapid adoption of digital health technologies (DHT) present unprecedented opportunities to democratize and reduce disparities in health care by monitoring health and disease at the point of care in all patients. However, limited access to DHT is becoming a major obstacle to realizing these goals. Access to DHT is influenced not only by well-recognized social determinants of health, but also by digital determinants of health, such as digital literacy and the need for broad access to digital infrastructure, as well as commercial and economic factors. Addressing these challenges and designing unbiased systems of care are essential to …

Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein

Faculty, Staff and Students Publications

Background: Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

Objective: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.

Methods: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

Results: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most …

Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic

Faculty, Staff and Students Publications

Background: The development of a screening tool to identify driving impairment in patients with movement disorders is an unmet need.

Objective: To validate Baylor Driving Questionnaire for Movement Disorders (BDQMD) by objective driving assessment (ODA).

Methods: In this cross-sectional study, 142 patients with various movement disorders completed the 10-item BDQMD and of those, 25 completed ODA using the driver performance analysis system (DPAS).

Results: The mean total BDQMD score for the whole cohort was 14.7 ± 5.6 (range 10-47). Patients who underwent ODA had a mean BDQMD score of 12.8 ± 2.9. Four had minimum driving skill, 20 had average, …