Digital Commons Network^™

Gould Edu: Cluster-Randomized Trial Of An Educational Intervention To Improve Lipid-Lowering Guideline Adherence, Christopher P Cannon, Christie M Ballantyne, Deepak L Bhatt, James A De Lemos, Qi Gao, Naishu Kui, Robert S Rosenson, Katherine E Mues, Jason Exter, Shushama Alam, Mikhail N Kosiborod

Faculty, Staff and Students Publications

Background: Adherence to lipid-lowering therapy (LLT) guidelines is suboptimal, leading to poor achievement of low-density lipoprotein cholesterol (LDL-C) goals and elevated risk for atherosclerotic cardiovascular disease (ASCVD) events.

Objectives: The purpose of this study was to determine whether an educational intervention targeting physicians improves optimization of LLT over 1 year for patients with ASCVD.

Methods: GOULD (Getting to an Improved Understanding of Low-Density Lipoprotein Cholesterol and Dyslipidemia Management) EDU (Education) was a 1-year extension in a subset of sites in the GOULD prospective, observational registry of United States patients with ASCVD. In a cluster-randomized, stepped-wedge design, sites were randomized to …

Esophageal Myotomy And Risk Of Esophageal Cancer And Mortality In Achalasia: Real-World Cohort Study, Fouad Jaber, Mohamad Ali Ibrahim, Mohammed Jaber, Youssef Soliman, Mai A Khalaf, Tara Keihanian, Fares Ayoub, Mohamed O Othman, Salmaan Jawaid

Faculty, Staff and Students Publications

Background and study aims: Achalasia is associated with increased risk of esophageal cancer, particularly squamous cell carcinoma. Although esophageal myotomy improves dysphagia, its impact on cancer risk and mortality remains unclear.

Patients and methods: We conducted a retrospective cohort study using the TriNetX research network, including adults (≥ 18 years) with achalasia confirmed by esophageal manometry. Patients were categorized based on treatment of those undergoing esophageal myotomy (peroral endoscopic myotomy [POEM] or laparoscopic Heller myotomy [LHM]) and those managed without myotomy. Patients with prior esophagectomy or malignancies associated with increased esophageal cancer risk were excluded. The primary outcome was incident …

Predictors Of Inpatient Rn Turnover In Rural And Urban Vha Hospitals, Katherine G Bay, Chase S Eck, Melissa K Knox, Paras Mehta, Laura A Petersen

Faculty, Staff and Students Publications

Background: The rising demand for health care delivery and an aging workforce is of particular concern in rural areas, where health care access depends upon an adequate nursing workforce. To address this shortage and optimize care, it is essential to measure when registered nurses (RN) leave inpatient direct care positions (ie, inpatient RN turnover) and identify modifiable factors correlated with RN turnover.

Objectives: Apply a novel method for characterizing inpatient RN turnover to understand factors associated with variation in RNs leaving inpatient positions at rural and urban Veterans Health Administration (VHA) hospitals.

Project design: Retrospective cohort study.

Subjects: Direct care …

Findings And Recommendations From The State Of The Art (Sota) Conference On Nursing Research To Improve Veteran Outcomes, Amelia E Schlak, Sarah Krein, Laura A Petersen, David Atkins, Catherine Battaglia, Elizabeth Burkhart, Renee Colsch, Marguerite Daus, Heather Gilmartin, Nipa Kamdar, Melissa Knox, Ann Kutney-Lee, Christine M Olney, Kathryn Rugen, Tracy Weistreich, Sheila Cox Sullivan, On Behalf The Nursing Sota Planning Committee

Faculty, Staff and Students Publications

The Veterans Health Administration (VHA), the largest employer of nurses in the United States, has more than 120,000 nursing personnel providing care to over 9 million Veterans across diverse settings. Despite nursing's central role in delivering and sustaining care, research on strengthening the nursing workforce and optimizing nursing practice has remained underdeveloped in VHA. To address this gap, VHA's Office of Research and Development, in partnership with the Office of Nursing Services, convened a State of the Art (SOTA) conference in November 2023 focused on nursing. The Nursing SOTA brought together nurses, researchers, operational leaders, and other stakeholders to review …

Relationship Between Number Of Assigned Patients And Rn Time To Administer Medications During The Peak-Time Medication Pass, Chase S Eck, Melissa K Knox, Paras D Mehta, Christine Yang, Laura A Petersen

Faculty, Staff and Students Publications

Background: Inpatient nurse staffing affects patient outcomes. Less is known about the mechanism of this relationship and how lower overall staffing in a unit affects individual RN activities at the bedside.

Objectives: Estimate the relationship between the number of patients assigned to an RN and time spent on medication administration at the peak-time medication pass (PTM), a common nursing task.

Research design: Estimate the association using multivariable linear regression to adjust for patient severity and staff and unit fixed effects.

Subjects: All 9272 RNs administering medications during the PTM on 243 inpatient units in 113 VHA hospitals in 2019.

Measures: …

Using Medication Pass Analysis To Examine Longitudinal Changes In Va Inpatient Nurse Staffing And Workload Before And Through The Covid-19 Pandemic: 2019-2022, Melissa K Knox, Chase S Eck, Lynette Dorsey, Paras D Mehta, Christine Yang, Laura A Petersen

Faculty, Staff and Students Publications

Background: The COVID-19 pandemic resulted in extended disruption to the health care system. National-level data-driven comparisons of inpatient nurse staffing and workload before and during the pandemic have been limited.

Objectives: Assess the extent to which registered nurse (RN) staffing and workload changed from prepandemic levels in a national integrated health care system.

Research design: Longitudinal descriptive analysis. Medication pass analysis using bar code medication administration data for the peak-time medication pass (PTM) assessing year-over-year changes from 2019 to 2022. To assess significance of year-over-year changes in means we used the Welch 2-sample t test.

Subjects: Staff (N=42,999) administering PTM …

Long Covid And Cardiovascular Diseases Among U.S. Adults: Results From The U.S. Medical Expenditure Panel Survey, Geoffrey Y Zhang, John C Lin, Dang Nguyen, Sameed Ahmed M Khatana, Thomas P Giordano

Faculty, Staff and Students Publications

Objective: Long COVID is associated with persistent symptoms including cardiovascular complications; however, the epidemiology and directionality of this association remain unclear.

Methods: Utilizing a retrospective cohort study design with cross-sectional analyses, 8,332 respondents aged 18 and older from the 2022 Medical Expenditure Panel Survey (MEPS) who had a prior COVID-19 infection, were analyzed to determine the temporal association between long COVID and cardiovascular disease (CVD), modeling each as both outcome and exposure in separate analyses.

Results: Long COVID was associated with any CVD diagnosis (OR 1.37; 95% CI: 1.05-1.80), specifically angina (OR 1.81; 95% CI: 1.18-2.77) and myocardial infarction (OR …

Ptpn1 Regulation Via Ybx1-Ptbp1 Interaction Promotes Fibroblast Activation And Fibrotic Remodeling In The Lung, Huibing Liu, Cong Xia, Yingying Zhang, Yulong Gan, Lianhui Cheng, Xuqian Wang, Airu Chang, Wenyu Zhao, Bin Li, Yaxuan Wang, Yajun Li, Ivan Rosas, Juntang Yang, Guoying Yu, Lan Wang

Faculty, Staff and Students Publications

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive interstitial pneumonia of unknown etiology. Its pathogenesis involves complex multicellular interactions and signaling pathways, with fibroblast-to-myofibroblast transition (FMT) being critical for fibrogenesis. Although the transcription factor Y-box binding protein 1 (YBX1) regulates processes such as cell proliferation, transcription, translation, and DNA repair, its role in IPF remains undefined. Here, we demonstrate that YBX1 overexpression significantly promotes transforming growth factor-β1 (TGF-β1)-induced pulmonary FMT, leading to substantially increased extracellular matrix (ECM) deposition in primary human (PHLFs) and mouse (PMLFs) lung fibroblasts. Conversely, YBX1 inhibition markedly suppresses TGF-β1-driven aberrant fibroblast migration and activation. Mechanistically, YBX1 …

Left Atrial Appendage Closure Devices: A Contemporary Review Of Techniques, Tips And Tricks, Kamran Namjouyan, Hafeez Ul Hassan Virk, Affan Rizwan, Muzamil Khawaja, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Atrial fibrillation (AF) affects approximately 3%-5% of adults and is projected to double in prevalence by 2060, significantly increasing the burden of thromboembolic stroke. This risk is largely attributed to thrombus formation within the left atrial appendage (LAA), particularly in nonvalvular AF, where the LAA's trabeculated anatomy, diverse morphologies (e.g., chicken wing, windsock, cactus, cauliflower), and impaired contractility allows for blood stasis and thrombogenesis. As a result, the LAA has become a focus for stroke prevention strategies. This review demonstrates current evidence on LAA closure by discussing patient selection, anatomical feasibility, procedural workflow, imaging guidance (transesophageal echocardiography vs. intracardiac echocardiography), …

The ‘Obesity Paradox’ In Patients Undergoing Transcatheter Aortic Valve Implantation. A Specialized Narrative Review, Johao Escobar, Iqra Riaz, Muzamil Khawaja, Hafeez Ul Hassan Virk, Joshua Hahn, Fu''Ad Al-Azzam, Zhen Wang, Mahboob Alam, Markus Strauss, Chayakrit Krittanawong

Faculty, Staff and Students Publications

Obesity has long been identified as a noteworthy risk factor for cardiovascular diseases, including aortic stenosis. Nevertheless, an unexplained phenomenon known as the obesity paradox has arisen in the context of transcatheter aortic valve implantation (TAVI), inquiring conventional beliefs. The obesity paradox refers to better clinical outcomes observed in obese individuals undergoing TAVI. These include reduced all-cause mortality, lower rates of procedural complications, and improved long-term survival rates compared to their lean counterparts. Several theories have been proposed to explain the obesity paradox in TAVI. One of the most popular is the adipose tissue-mediated cardioprotective effect hypothesis. It is known …

Duration Of Antimicrobial Therapy In Cardiovascular Implantable Electronic Device Associated Systemic Infections: A Retrospective Analysis, Emily Y Xiao, Patrick T Lynch, Sarwat Khalil, Derrick A Draeger, Alexandra M Lewis, Faiz M Baqai, Mihail G Chelu, M Rizwan Sohail

Faculty, Staff and Students Publications

Background: While the need for complete device removal is well-established for cardiovascular implantable electronic device (CIED) infections, there is insufficient evidence on the optimal duration of antimicrobial therapy.

Objectives: To examine how antimicrobial duration affects clinical outcomes of patients presenting with CIED-associated bacteremia and lead endocarditis.

Design: This is a retrospective cohort study conducted at a quaternary care hospital in Houston, TX, USA.

Methods: Patients who underwent device removal for a primary indication of bacteremia or lead endocarditis over a 10-year period were stratified by prescribed duration of antibiotics as ⩽2 weeks or >2 weeks post-extraction. Measured outcomes included all-cause …

Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Ashita Jain, Sarwat Khalil, Muhammad R Sohail, 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.

Midterm Outcomes Of The Self-Expanding Navitor Transcatheter Heart Valve: A Systematic Review And Meta-Analysis., Sahar Samimi, Chloe Kharsa, Mangesh Kritya, Joe Aoun, Syed Zaid, Nadeen N Faza, Stephen H Little, Neal S Kleiman, Michael J Reardon, Sachin S Goel

Faculty, Staff and Students Publications

• A 19-study meta-analysis (7743 patients) found high Navitor technical/device success.
• ≥Moderate PVL was low: 1.3% at 30 days and 0.6% at 1 year.
• Pacemaker implantation was 16.7% at 30 days and 20.4% at 1 year.
• Thirty-day outcomes were favorable: all-cause mortality 1.5% and stroke 1.7%.

Definitions Of Arginine Availability: A Critical Metabolic Marker Of Physiological Processes, Mustafa Tosur, Farook Jahoor, Ashok Balasubramanyam

Faculty, Staff and Students Publications

No abstract provided.

Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li

Faculty, Staff and Students Publications

Human papillomavirus (HPV) is a major driver of global cancer incidence, responsible for nearly all cervical cancers and a significant proportion of oropharyngeal, anal, and other anogenital cancers. Despite the availability of effective vaccines, HPV-associated cancers persist due to persistent infection, immune evasion, and the virus's ability to integrate into the host genome, contributing to molecular heterogeneity and therapeutic resistance. Here, we summarize molecular heterogeneity and the emerging combined therapeutic strategies. High-risk HPV types, notably HPV16 and HPV18, initiate carcinogenesis through persistent infection of epithelial basal cells and through the actions of the E6 and E7 oncoproteins, which disrupt the …

Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove

Faculty, Staff and Students Publications

Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.

Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.

Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …

Acmg Medical Directors’ Special Interest Group Survey: Current Challenges For Medical Genetics Clinics, Mark Dulchavsky, Catherine E Keegan, Nathaniel H Robin, Chad Haldeman-Englert, Shweta U Dhar, Fuki M Hisama

Faculty, Staff and Students Publications

Purpose: The American College of Medical Genetics and Genomics Medical Directors' Special Interest Group (SIG) began in 2021 as a forum for directors of medical genetics clinical groups to share questions, concerns, current practices, and solutions regarding clinical operations. We report on the first 4 years of the SIG-its membership growth and SIG activities. We also present quantitative and qualitative results of a nationwide survey of 66 SIG members addressing recurrent questions from members regarding: wait times, volume of referrals, clinical workload expectations, and independent practice of genetic counselors (GCs) and advanced practice providers.

Methods: Cross-sectional survey of American College …

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …

Latent Factor Modeling Reveals Unexpected Spatial Heterogeneity In Human Alzheimer's Disease Brain Transcriptomes, Rami Al-Ouran, Chaozhong Liu, Linhua Wang, Zhijian Yu, Ying-Wooi Wan, Chaohao Gu, Xiqi Li, Gerarda Cappuccio, Mirjana Maletic-Savatic, Aleksandar Milosavljevic, Joshua M Shulman, Hu Chen, Zhandong Liu

Faculty, Staff and Students Publications

Alzheimer's disease is characterized by complex molecular and cellular heterogeneity, which complicates efforts to identify consistent biomarkers and therapeutic targets. To better characterize the heterogeneity, we applied latent factor modeling to RNA sequencing data from approximately 2,500 human Alzheimer's disease brain samples, uncovering underlying patterns in gene expression. These transcriptional groups demonstrated unique gene expression profiles related to synaptic and neuronal pathways, vasculature development, and protein folding and antigen processing. Notably, this latent factor reflects variation in spatial sampling. Adjusting for the latent factor improved the identification of differentially expressed genes in disease samples. This finding suggests that spatial heterogeneity …

Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González

Faculty, Staff and Students Publications

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …

Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, 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 …

The Words Community Dwelling, Spanish-Preferring Mexican/Mexican American Adults Use To Talk About Alzheimer’S Disease And Genetic Testing: Implications For Education And Outreach, Jamie C Fong, Fatima I Chavez, Karla Silos, Mirna L Arroyo-Miranda, Gabriela Castro Castro, Mark E Kunik, Joshua M Shulman, Luis D Medina

Faculty, Staff and Students Publications

Introduction: Hispanic/Latino (H/L) adults are more likely than non-Hispanic White individuals to have Alzheimer's disease (AD), yet fewer than one in five H/L adults has apolipoprotein E (APOE) Ɛ4, underscoring gaps in understanding genetic risk across H/L heritage groups. H/L adults remain underrepresented in AD research that uses genetic data for participant stratification. To inform culturally appropriate educational materials for 16 million U.S. Spanish speakers, we identified culturally salient words Spanish-preferring H/L adults use to describe AD and genetic testing beyond APOE.

Methods: Community-residing, Spanish-preferring Mexican/Mexican American adults (n = 14) completed freelisting interviews, a method eliciting …

A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Isabel A Danstrom, Joshua A Adkinson, Zoe Liu, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki

Faculty, Staff and Students Publications

Background: Single-pulse electrical stimulation (SPES) can help guide neuromodulation therapy in an iterative process to reveal ideal circuits and degrees of engagement. Understanding the relationship between parameter input and neural output will be necessary both to build informative models of the brain's functional connectivity and to improve responses to stimulation-based neuromodulation therapies. Modulating pulse width alters the total charge delivered to neural tissue and is thought to selectively activate fibers with different diameters, potentially shifting therapeutic thresholds. The anterior cingulate cortex (ACC) and orbitofrontal cortex (OFC) are of great clinical relevance to the pathophysiology and treatment of neuropsychiatric disorders.

Objective: …

Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology, Daniel Truong, Joseph Jankovic

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 …

Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum

Faculty, Staff and Students Publications

Background: Intravenous thrombolytic (IVT) and mechanical thrombectomy (MT) therapies are the current standard of care for large vessel occlusion (LVO) stroke. Multiple studies emphasized the impact of time metrics on patient outcomes, particularly door-to-needle (DTN) and door-to-puncture (DTP) times. Tenecteplase (TNK) offers potential advantages over alteplase (ALT), including a simplified one-time bolus administration, which may reduce DTP time. Results suggest TNK is non-inferior to ALT in terms of clinical outcomes, but few large cohort studies have compared DTP time for patients receiving TNK vs. ALT prior to thrombectomy. This real-world study aimed to compare DTP times and discharge outcomes in …

Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong

Faculty, Staff and Students Publications

The Deep Brain Stimulation (DBS) Think Tank XIII was held September 2-4th, 2025, in Gainesville, Florida, at the Norman Fixel Institute for Neurological Diseases at the University of Florida. The theme was "The Evolving Landscape of DBS: New Indications, New Goals." This theme was a continuation of the DBS Think Tank XI and XII, which were focused on emerging technology and pushing the horizon of indications. Since its founding in 2012, the DBS Think Tank has provided a global forum for leading clinicians, engineers, and researchers in both in industry and academia to present, discuss, and debate the current state …

Transient Disruption Of Bladder Control Linked To Periaqueductal Gray Fibers Following Deep Brain Stimulation For Psychiatric Disorders, Thomas Hamre, Hideo Suzuki, Sarah Soubra, Reem El Jammal, Melissa A Ryan, Sanjay J Mathew, Jeffrey A Herron, Nidal Moukaddam, Eric A Storch, Nora Vanegas Arroyave, Kara L Marshall, Garrett P Banks, Nader Pouratian, Wayne K Goodman, Nicole R Provenza, Sameer A Sheth, Sarah R Heilbronner

Faculty, Staff and Students Publications

No abstract provided.

Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer

Faculty, Staff and Students Publications

Introduction: Pilocytic astrocytomas are driven by BRAF and mitogen-activated protein kinase (MAPK) alterations, typically KIAA1549::BRAF fusions. A rare GTF2I::BRAF fusion has been described, but little is known about these cases.

Case report: Here, we report two cases with GTF2I::BRAF fusions. Case 1 is a 36-year-old man initially diagnosed with myxopapillary ependymoma at the conus medullaris with three recurrences over 23 years requiring two surgeries, three rounds of radiation therapy, and one round of lapatinib/temozolomide. A distant disease focus in T3/T4 was sampled and tested with modern diagnostic techniques revealing a pilocytic astrocytoma on histology and methylation profiling. The patient has …

Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin

Faculty, Staff and Students Publications

Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.

Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …

Mapping The Structural Connections Between The Anterior Cingulate Cortex And The Insula/Ventrolateral Prefrontal Cortex.Mapping The Structural Connections Between The Anterior Cingulate Cortex And The Insula/Ventrolateral Prefrontal Cortex, Wei Tang, Javier Guaje, Shreyas Fadnavis, Sarah R Heilbronner, Eleftherios Garyfallidis

Faculty, Staff and Students Publications

The anterior cingulate cortex (ACC) is functionally closely related with the insula and the ventral lateral prefrontal cortex (vlPFC). The ACC and insula are the main hubs of the salience network, a set of functionally related brain regions involved in detecting salient stimuli and coordinating inter-network communication, while communication between ACC and vlPFC is closely linked to inhibitory control. However, despite strong indirect evidence from nonhuman primate (NHP) tract tracing, the structural connections between the ACC and the insula/vlPFC remain poorly understood in the human brain, in part because standard approaches fail to capture this projection. In this study, we …