Neurology Commons^™

Alpha-Synuclein Interaction With Gedunin, Tony Matundura Nyabayo

Graduate Theses/Dissertations

Parkinson’s disease (PD) and other Proteinopathies develop when α-synuclein misfolds and aggregates into toxic amyloids. While existing treatments for PD are primarily focused on managing its symptoms, a viable solution for slowing down the progress of Parkinson’s disease involves targeting the toxic α-synuclein amyloids. Gedunin, a natural inhibitor of heat shock protein 90, has been extensively used to treat malaria. Also, recent research investigations have shed light on its potential beyond malaria therapy, indicating that Gedunin may offer a possible solution for treating a variety of neurodegenerative diseases. Using plate-based assays, we examined how Gedunin influences α-synuclein fibrillation and its …

Cognitive Rehabilitation Of Brain Tumor Survivors: A Systematic Review, Rabeet Tariq, Hafiza Fatima Aziz, Shahier Paracha, Nida Zahid, Timothy J. Ainger, Farhan A. Mirza, Syed Ather Enam

Neurology Faculty Publications

Background Cognitive decline is commonly seen in brain tumor (BT) patients and is associated with a worsened prognosis. Cognitive rehabilitation (CR) for cancer-related cognitive dysfunction has been widely studied for non-central nervous system cancers; however, recent emerging research has commenced documenting CR strategies for BT patients and survivors. Our objective was to review the current literature on various CR modalities in patients and BT survivors.

Methods The review was conducted in accordance with the PRISMA guidelines. The studies on CR were searched across 3 databases using a predefined search strategy. After removing duplicates, performing initial and full-text screenings, and applying …

Hiv Protein Tat Dysregulates Multiple Pathways In Human Ipscs- Derived Microglia, Liam Liyang Guo, Robert Jiang, Yan Cheng, Brooke Russell, Yan Y. Sanders, Ming-Lei Guo

Department of Biomedical and Translational Sciences Faculty Publications

In the era of combined antiretroviral therapy, around 50% of chronic HIV (+) individuals show varying degrees of memory and cognitive deficiency (NeuroHIV), a phenomenon of accelerated brain aging. HIV protein transactivator of transcription (TAT) has been well-accepted as a risk factor contributing to NeuroHIV through dysregulating microglia (Mg) functions. Previous studies have demonstrated that HIV-TAT can affect lipid metabolism, immune responses, autophagy, and senescence in rodent Mg. However, due to the significant species differences between rodent and human Mg (hMg), it is essential to take caution when interpreting the results obtained from rodent models into human conditions. For the …

Key Brain Region Identification In Obesity Prediction With Structural Mri And Probabilistic Uncertainty Aware Model, Walia Farzana, Megan A. Witherow, Ahmed Temtam, Liangsuo Ma, Melanie Bean, F. Gerry Moeller, K. M. Iftekharuddin

Electrical & Computer Engineering Faculty Publications

Objectives/Goals: Predictive performance alone may not determine a model’s clinical utility. Neurobiological changes in obesity alter brain structures, but traditional voxel-based morphometry is limited to group-level analysis. We propose a probabilistic model with uncertainty heatmaps to improve interpretability and personalized prediction. Methods/Study Population: The data for this study are sourced from the Human Connectome Project (HCP), with approval from the Washington University in St. Louis Institutional Review Board. We preprocessed raw T1-weighted structural MRI scans from 525 patients using an automated pipeline. The dataset is divided into training (357 cases), calibration (63 cases), and testing (105 cases). Our probabilistic model …

Effect Of Implementing An Educational Program About Post Kidney Transplant Care On Critical Care Nurses' Knowledge, Marwa Abdo, Asmaa Ibrahim Aboseda

Nursing

Background: Critical care nurses (CCNs) play a pivotal role in post-kidney transplant care, necessitating a comprehensive understanding of transplantation procedures, complications, and patient management. So, any knowledge gaps among CCNs may impact the quality of care provide to kidney transplant program. Aim: This study aimed to assess the effect of implementing an educational program about post-kidney transplant care on critical care nurses’ knowledge. Methods: A quasi-experimental study was conducted among 50 critical care nurses. A structured educational program was implemented, and nurses’ knowledge was assessed pre- program, post- program, and three months follow-up. Data was collected using a kidney transplantation …

Tam Receptors Mediate The Fpr2-Driven Pain Resolution And Fibrinolysis After Nerve Injury, Beate Hartmannsberger, Adel Ben‑Kraiem, Sofia Kramer, Carolina Guidolin, Ida Kazerani, Kathrin Doppler, Dominique Thomas, Robert Gurke, Marco Sisignano, Pranav P. Kalelkar, Andrés J. García, Paula V. Monje, Michael Sammeth, Asma Nusrat, Alexander Brack, Susanne M. Krug, Claudia Sommer, Heike L. Rittner

Markey Cancer Center Faculty Publications

Nerve injury causes neuropathic pain and multilevel nerve barrier disruption. Nerve barriers consist of perineurial, endothe- lial and myelin barriers. So far, it is unclear whether resealing nerve barriers fosters pain resolution and recovery. To this end, we analysed the nerve barrier property portfolio, pain behaviour battery and lipidomics for precursors of specialized pro-resolving meditators (SPMs) and their receptors in chronic constriction injury of the rat sciatic nerve to identify tar- gets for pain resolution by resealing the selected nerve barriers. Of the three nerve barriers—perineurium, capillaries and myelin—only capillary tightness specifically against larger molecules, such as fibrinogen, recuperated with …

The Differential Expands: Ataxia From Paraneoplastic Cerebellar Degeneration, Dominic Thomas, Md, Amy Dechet

Books, Presentations, Posters, Etc.

Introduction: Paraneoplastic cerebellar degeneration is a rare cause of cerebellar ataxia with a poor prognosis for neurologic recovery. The management of symptoms is dependent primarily upon timely diag nosis and treatment of the underlying neoplasm. Herein, we present the diagnostic and treatment course of a patient with paraneoplastic cerebellar degeneration. Case: A 72-year-old woman with a past medical history of left mastectomy for high grade ER/PR negative Her2 positive invasive ductal carcinoma presented with progressively worsening dysarthria and ataxia over two months. A metabolic work up by her primary care physician was unrevealing. Breast MRI did not show recurrence of …

Levetiracetam-Induced Acute Kidney Injury In A Pediatric Patient, Makaila A. Geese Pharmd Candidate, Norm Fenn Bcps, Bcpps

Parkview Pharmacy Department

Presented at PPA Meeting.

Objective: To describe a case of acute kidney injury following levetiracetam administration in an adolescent patient.

Key takeaways:

Acute kidney injury (AKI) following levetiracetam is rare, especially in pediatric patients

Kidney injury was not correlated with supratherapeutic levetiracetam concentrations

Coldstartcpi: Induced-Fit Theory-Guided Dti Predictive Model With Improved Generalization Performance, Qichang Zhao, Haochen Zhao, Linyuan Gao, Kai Zheng, Yajie Li, Qiao Ling, Jing Tang, Yaohang Li, Jianxin Wang

Computer Science Faculty Publications

Predicting compound-protein interactions (CPIs) plays a crucial role in drug discovery. Traditional methods, based on the key-lock theory and rigid docking, often fail with novel compounds and proteins due to their inability to account for molecular flexibility and the high sparsity of CPI data. Here, we introduce ColdstartCPI, a framework inspired by induced-fit theory, which leverages unsupervised pre-training features and a Transformer module to learn both compound and protein characteristics. ColdstartCPI treats proteins and compounds as flexible molecules during inference, aligning with biological insights. It outperforms state-of-the-art sequence-based models, particularly for unseen compounds and proteins, and shows strong generalization capability …

Weighted Family History Density Of Substance Use: Influence On Participant Substance Use Onset, Escalation, And Duration, Carleigh A. Litteral

Theses and Dissertations--Psychology

Substance use disorders impose a staggering toll on the United States (U.S.), straining healthcare systems, destabilizing communities, and profoundly impacting both individuals and families. Approximately one in six Americans aged 12 and older had a past-year substance use disorder in 2022 (Key Substance Use, 2022), and nearly one-third of adults experience a substance use disorder in their lifetime (Wu, 2010), contributing to an economic burden exceeding $400 billion annually (National Drug Threat Assessment, 2011). Family history of substance use disorders is a key predictor of vulnerability, with individuals who have affected relatives being 2–8 times more …

Mitochondrial-Targeted Therapies In Traumatic Brain Injury: From Bench To Bedside, Sidra Tabassum, Silin Wu, Chang-Hun Lee, Bosco Seong Kyu Yang, Aaron M Gusdon, Huimahn A Choi, Xuefang S Ren

Faculty, Staff and Student Publications

Traumatic brain injury (TBI) is a leading cause of morbidity and mortality worldwide, with limited effective therapeutic options currently available. Recent research has highlighted the pivotal role of mitochondrial dysfunction in the pathophysiology of TBI, making mitochondria an attractive target for therapeutic intervention. This review comprehensively examines advancements in mitochondrial-targeted therapies for TBI, bridging the gap from basic research to clinical applications. We discuss the underlying mechanisms of mitochondrial damage in TBI, including oxidative stress, impaired bioenergetics, mitochondrial dynamics, and apoptotic pathways. Furthermore, we highlight the complex interplay between mitochondrial dysfunction, inflammation, and blood-brain barrier (BBB) integrity, elucidating how these …

Pay Attention! A Comparative Analysis Of Psychological Assessments And Neurological Mechanisms For Adhd Within A Pediatric Population, Kristen E. Newberry

Antioch University Dissertations & Theses

This study evaluated the predictiveness of the WISC-V, NEPSY-II, CPT-3, and CATA when compared to each other in a sample of 272 children aged 8–16. Archival data was analyzed using binary and multinomial logistic regression models to assess concurrent validity of specific subtests and indexes. Participants were grouped by ADHD subtype (inattentive, combined/hyperactive, or no diagnosis), with gender and executive functioning measures included in the models. Findings indicated that lower Cognitive Proficiency Index (CPI) and executive functioning scores (e.g., Animal Sorting, Response Set) predicted any ADHD diagnosis compared to the no diagnosis group, whereas higher CATA scores predicted lower Inattentive …

The Interplay Between Pulse Width And Activation Depth In Tens: A Computational Study, Alexander Guillen, Dennis Q Truong, Yusuf O Cakmak, Sheng Li, Abhishek Datta

Faculty, Staff and Student Publications

Background: Transcutaneous electrical nerve stimulation (TENS) has been a commonly used modality to relieve aches and pain for over 40 years. Commercially available devices provide multiple therapy modes involving a different combination of frequency and pulse width with intensity. While frequency sets sensation, intensity helps determine tolerability, longer pulse width is reported to induce a feeling of deeper stimulation. In fact, longer pulse width has been empirically shown to deliver current into deeper tissues, but in context of other electrical stimulation modalities. The goal of this study was to unpack the relationship between pulse width and activation depth in TENS. …

Virtually Assisted Home Rehabilitation After Acute Stroke (Vast-Rehab): A Descriptive Pilot Study For Young And Underserved Stroke Survivors, Emily A Stevens, Neha Muraly, Carolyn P Da Silva, Lorie Richards, Aylen Sosa, Heather Smith, Allyson Seals Richard, Shehzeen Manji, Mary E Russell, Sean I Savitz

Faculty, Staff and Student Publications

Introduction: The objective of Virtually Assisted home rehabilitation after acute STroke was to offer a fully remote telerehabilitation intervention to stroke survivors during the COVID-19 pandemic.

Methods: Participants were recruited from acute care, inpatient rehab, or provider/self-referral if they had a stroke within the previous year, prestroke modified Rankin Scale < 3, were recommended to participate in rehab, and had internet access. Exclusions were: prior injury/diagnoses that impacted functional level, life expectancy of less than six months, or safety concerns. Outcomes were within one week prior to initiation and within one week after completion of telerehabilitation sessions. Video call sessions were completed 1-2 times a week for 12 weeks. Occupational therapy, physical therapy, and/or speech therapy were provided. Analyses involved descriptive statistics; qualitative comments were aggregated and analyzed for broader themes. Twenty participants were consented.

Results: Of the 20 participants (39-71 years old, 35% White, 50% female), 12 completed study activities, five completed exit interview; 10 demonstrated improvement on National Institute of Health Stroke Scale from a mean of 5.6 at baseline to 2.7 at end of study, six demonstrated improvement in modified Rankin Score …

Case Report: Rare Intraventricular H3 K27-Altered Diffuse Midline Glioma In An Adult, Merari Jasso, Jay-Jiguang Zhu, Meenakshi B Bhattacharjee, Georgene W Hergenroeder

Faculty, Staff and Student Publications

H3 K27-Altered Diffuse Midline Gliomas are commonly found in children and adolescents in midline locations such as the thalamus, brain stem, and spinal cord. It is rare for these tumors to affect adults and to occur in locations like the lateral ventricles. Despite aggressive treatment methodologies, there is no cure for this disease. The median survival is between 8-12 months. A 24-year-old white male presented to the emergency department due to severe headache refractory to pain medications with a 2-month history of progressive headaches and eventual memory problems. Computed tomography (CT) and magnetic resonance imaging (MRI) showed an intraventricular enhancing …

Reassessing Hourly Neurological Assessments: A Quality Improvement Initiative, Haley Lynne Johnson

Graduate Theses, Dissertations, and Problem Reports (ETD)

ABSTRACT

Reassessing Hourly Neurological Assessments: A Quality Improvement Initiative

Haley Lynne Johnson, BSN, RN

Background: Stroke and brain injuries remain among the leading causes of mortality in the United States, accounting for 162,890 deaths in 2021 (Centers for Disease Control and Prevention [CDC], 2021). Although frequent neurological assessments are essential for monitoring patient status, limited evidence supports the prolonged use of hourly neuro-checks (LaBuzetta et al., 2022). Excessive neuro-check frequency has been linked to sleep deprivation, an increased risk of delirium, and inefficient resource utilization (Kishore et al., 2021).

Purpose: This project aimed to assess the impact of …

Real-World Clinical Utility Of A Multi-Protein, Blood-Based Biomarker Assay For Disease Activity Assessments In Multiple Sclerosis., Angela Sanchez, Elisa Sheng, Sarah Eagleman, James L Eubanks, Patricia Izbicki, Shannon Mccurdy, Matt Burril, Ferhan Qureshi, Ati Ghoreyshi, Mitzi Joi Williams, Megan Weigel, William Kilgo, Jacqueline Nicholas, Annette Okai, Martin Belkin, Julie Burnham, Yasir Jassam, Michael Sy, Taylor Gonyou

Neuroscience Articles

BACKGROUND: Blood-based biomarkers have emerged as promising tools to optimize treatment decisions in multiple sclerosis (MS) including initiation, switch, or cessation of disease modifying therapies.

OBJECTIVES: The clinically validated MS disease activity (MSDA) test measures 18 proteins to derive a disease activity score. This study tests the clinical utility of MSDA in real-world practice.

METHODS: Twenty clinicians from 14 clinics conducted a chart review utilizing a retrospective, longitudinal design, with a pre-post component. Chart reviews captured clinician decision-making before and after receipt of each MSDA result, while separate clinician assessments also captured the perceived impact of MSDA on MS management. …

An Evidence-Based Consensus For The Use Of Neurostimulation For The Treatment Of Non-Surgical Low Back Pain: The Neuron Group., Timothy Ray Deer, Jason E Pope, Erika A Petersen, Rany T Abdallah, Kasra Amirdelfan, Nomen Azeem, Vishal Bansal, Kaku Barkoh, Kenneth B Chapman, Daniel R Denis, Michael J Dorsi, Alexander Escobar, Steven Michael Falowski, Rosa Amelia Garcia, Jonathan M Hagedorn, Robert D Heros, Whitney S James, Hemant Kalia, Todd Lansford, Mark N Malinowski, Suzanne Marie Manzi, Pankaj Mehta, Robert Z Moghim, Gregory Anthony Moore, Soriaya Lizette Motivala, Yeshvant A Navalgund, Raj G Patel, Julie G Pilitsis, Michael E Schatman, Philip Michael Shumsky, Natalie Holmes Strand, Nestor D Tomycz, James J Yue, Dawood Sayed

Neuroscience Articles

INTRODUCTION: The use of electrical neuromodulation has often been limited to those with previous back surgery, peripheral neuropathy, and complex regional pain syndrome. Many patients with severe intractable low back pain were thought to be candidates for spinal cord stimulation (SCS), dorsal root ganglion stimulation, or peripheral nerve stimulation but did not meet the criteria. Recently, additional high-level data has supported the use of SCS in non-surgical low back pain (NSLBP), and United States Food and Drug Administration approval has been granted. The American Society of Pain and Neuroscience (ASPN) executive committee realized an unmet need to develop criteria for …

The Efficacy Of Physical Activity Or Exercise Among Individuals With Cerebral Palsy: An Umbrella Review Of Systematic Reviews, Majed M. Alhumaid, Faris Yahya I. Asiri, Mohamed A. Said, Justin A. Haegele

Human Movement Studies & Special Education Faculty Publications

Introduction

Cerebral palsy (CP) is the most common childhood disability, affecting 1.5-3 per 1000 live births. Physical exercises have been shown to improve muscle and limb outcomes in CP. This systematic review critically appraises existing systematic reviews on the effects of physical activity and exercise on physical, functional, and psychosocial outcomes in individuals with CP compared to those without.

Methods

Using a PICO framework, the question was: In patients with CP, do physical activity and exercise improve muscle- and limb-related outcomes compared to no intervention or usual care? PubMed, Cochrane, ISI Web of Science, and Embase were searched for systematic …

Independent Component Analysis Of Resting-State Fmri Identifies Regions Associated With Seizure Freedom After Laser Interstitial Thermal Therapy For Temporal Lobe Epilepsy, Mahdi Alizadeh, J. Miao, Caio Matias, Kevin J. Hines, Christopher T T. Skidmore, Michael R. Sperling, Joseph I Tracy, Ashwini Sharan, Chengyuan Wu

Department of Neurosurgery Faculty Papers

OBJECTIVE: Temporal lobe epilepsy (TLE) is a common form of drug-resistant epilepsy often treated with surgical interventions, including laser interstitial thermal therapy (LITT). However, patient-specific factors influencing LITT outcomes remain unclear. This retrospective study aimed to identify pre-operative resting-state functional MRI (rs-fMRI) patterns associated with seizure freedom following LITT in mesial TLE.

METHODS: We analyzed rs-fMRI data from 28 patients with mesial TLE who underwent LITT, classifying them into seizure-free (SF) and not seizure-free (NSF) groups based on 12-month post-operative outcomes. Independent component analysis (ICA) was used to identify subject-specific brain networks, and generalized linear models (GLM) were employed to …

Zic1 Is A Context-Dependent Medulloblastoma Driver In The Rhombic Lip, John J Y Lee, Ran Tao, Zhen You, Parthiv Haldipur, Anders W Erickson, Hamza Farooq, Liam D Hendriske, Namal Abeysundara, Cory M Richman, Evan Y Wang, Neha Das Gupta, Jennifer Hadley, Melissa Batts, Christopher W Mount, Xiaochong Wu, Alex Rasnitsyn, Swneke Bailey, Florence M G Cavalli, Sorana Morrissy, Livia Garzia, Kulandaimanuvel Antony Michealraj, Abhi Visvanathan, Vernon Fong, Jonelle Palotta, Raul Suarez, Bryn G Livingston, Miao Liu, Betty Luu, Craig Daniels, James Loukides, Anne Bendel, Pim J French, Johan M Kros, Andrey Korshunov, Marcel Kool, Fernando Chico Ponce De León, Mario Perezpeña-Diazconti, Boleslaw Lach, Sheila K Singh, Sarah E S Leary, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Ji-Yeoun Lee, Teiji Tominaga, William A Weiss, Joanna J Phillips, Shizhong Dai, Gelareh Zadeh, Ali G Saad, László Bognár, Almos Klekner, Ian F Pollack, Ronald L Hamilton, Young-Shin Ra, Wieslawa A Grajkowska, Marta Perek-Polnik, Reid C Thompson, Anna M Kenney, Michael K Cooper, Stephen C Mack, Nada Jabado, Mathieu Lupien, Marco Gallo, Vijay Ramaswamy, Mario L Suva, Hiromichi Suzuki, Kathleen J Millen, L Frank Huang, Paul A Northcott, Michael D Taylor

Faculty, Staff and Students Publications

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma). Overexpression of ZIC1 suppresses the growth of group 3 medulloblastoma models, whereas it promotes the proliferation of SHH medulloblastoma precursor cells. SHH medulloblastoma ZIC1 mutants show increased activity versus wild-type ZIC1, whereas G4 medulloblastoma …

Comparative Analysis Of Aav Serotypes For Transduction Of Olfactory Sensory Neurons, Benjamin D W Belfort, Johnathan D Jia, Alexandra R Garza, Anthony M Insalaco, J P Mcginnis, Brandon T Pekarek, Joshua Ortiz-Guzman, Burak Tepe, Hu Chen, Ascent-Pd Investigators, Zhandong Liu, Benjamin R Arenkiel

Faculty, Staff and Students Publications

Olfactory sensory neurons within the nasal epithelium detect volatile odorants and relay odor information to the central nervous system. Unlike other sensory inputs, olfactory sensory neurons interface with the external environment and project their axons directly into the central nervous system. The use of adeno-associated viruses to target these neurons has garnered interest for applications in gene therapy, probing olfactory sensory neuron biology, and modeling disease. To date, there is no consensus on the optimal AAV serotype for efficient and selective transduction of olfactory sensory neurons

Resort Enhances Reference-Based Cell Type Deconvolution For Spatial Transcriptomics Through Regional Information Integration, Linhua Wang, Ling Wu, Guantong Qi, Chaozhong Liu, Wanli Wang, Xiang H-F Zhang, Zhandong Liu

Duncan NRI Faculty and Staff Publications

Motivation: Spatial transcriptomics (ST) captures positional gene expression within tissues but lacks single-cell resolution. Reference-based cell type deconvolution methods were developed to understand cell type distributions for ST. However, batch/platform discrepancies between references and ST impact their accuracy.

Results: We present Region-based Cell Sorting (ReSort), which utilizes ST's region-level data to lessen reliance on reference data and alleviate these technical issues. In simulation studies, ReSort enhances reference-based deconvolution methods. Applying ReSort to a mouse breast cancer model highlights macrophages M0 and M2 enrichment in the epithelial clone, revealing insights into epithelial-mesenchymal transition and immune infiltration.

Availability and implementation: Source codes …

Survey And Improvement Strategies For Gene Prioritization With Large Language Models, Matthew B Neeley, Guantong Qi, Guanchu Wang, Ruixiang Tang, Dongxue Mao, Chaozhong Liu, Sasidhar Pasupuleti, Bo Yuan, Fan Xia, Pengfei Liu, Zhandong Liu, Xia Hu

Duncan NRI Faculty and Staff Publications

Motivation: Rare diseases remain difficult to diagnose due to limited patient data and genetic diversity, with many cases remaining undiagnosed despite advances in variant prioritization tools. While large language models have shown promise in medical applications, their optimal application for trustworthy and accurate gene prioritization downstream of modern prioritization tools has not been systematically evaluated.

Results: We benchmarked various language models for gene prioritization using multi-agent and Human Phenotype Ontology classification approaches to categorize patient cases by phenotype-based solvability levels. To address language model limitations in ranking large gene sets, we implemented a divide-and-conquer strategy with mini-batching and token limiting …

Recurrent Carotid Paragangliomas In A Syndromic Patient With A Heterozygous Missense Variant In Dna Methyltransferase 3 Alpha, Ryan J German, Blake Vuocolo, Liesbeth Vossaert, Lisa Saba, Robin Fletcher, Matthew L Tedder, Bekim Sadikovic, Jennifer Kerkhof, Michael Wangler, Carlos A Bacino

Duncan NRI Faculty and Staff Publications

We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent carotid paragangliomas, mediastinal mass, intellectual disability, dysarthria, cholelithiasis, diabetes mellitus, hypertension, and dysmorphic features. We interpret this novel variant as likely pathogenic and causative for the patient's syndromic features of Heyn-Sproul-Jackson syndrome. Heyn-Sproul-Jackson syndrome is a condition caused by gain-of-function genetic changes in DNMT3A. Paragangliomas have also been observed in non-syndromic patients with genetic alterations in DNMT3A. We describe a patient with clinical features of Heyn-Sproul-Jackson syndrome such as …

Real-World Experiences With Vmat2 Inhibitors In Pediatric Hyperkinetic Movement Disorders, Sujal Manohar, Jennifer Jacobe, Rebecca Berger, Joseph Jankovic, Mariam Hull

Faculty, Staff and Students Publications

Background: Vesicular monoamine transporter 2 (VMAT2) inhibitors are often prescribed for the treatment of hyperkinetic movement disorders such as tics, stereotypy, tardive dyskinesia and chorea. These dopamine depleters have been FDA approved in adults for the treatment of chorea in Huntington's disease and tardive dyskinesia. Use of VMAT2 inhibitors in pediatric hyperkinetic movement disorders, however, is limited due to lack of pediatric FDA approval. We review the real-world prescribing practices and patient experiences with VMAT2 inhibitors in children.

Methods: We performed a retrospective chart review of patients treated with VMAT2 inhibitors at a pediatric movement disorders clinic from 2011 to …

Isolated Calvarial Lesion As The Initial Presentation Of Metastatic Hepatocellular Carcinoma: A Case Report And Review Of The Literature, Jeffrey Wu Chen, Nisha Giridharan, Arman A Kavoussi, Dawn Van Arsdale, Shervin Hosseingholi Nouri, Vijay Nitturi, Trevor Trudeau, Jacob J Mandel, Hsiang-Chih Lu, Akash J Patel

Faculty, Staff and Students Publications

Background: Hepatocellular carcinoma (HCC) contributes significantly to global cancer-related mortality, often because patients present at advanced stages of the disease. HCC commonly metastasizes to the lung, abdominal lymph nodes, and bone. However, even among bony metastases, calvarial lesions are exceptionally rare, especially in the initial presentation.

Case description: We describe a unique case of a 65-year-old African American woman who presented with a rapidly growing skull lesion as her first clinical sign of metastatic HCC. Imaging revealed an extensive soft-tissue mass involving the left calvaria and partially obstructing the superior sagittal sinus. We suspected that the lesion was a meningioma …

Comparing Guillain-Barré Syndrome Outcomes Between Rural And Urban Hospitals In The United States: A Retrospective Cohort Study, Anudeep Surendranath, Rahul Damani, Anushareddy Muddasani, Anupam Kumar Gupta

Faculty, Staff and Students Publications

Background and purpose: Rural-urban disparities in neurological care have been well documented, but limited data exist regarding Guillain-Barré Syndrome (GBS). This study examines differences in patient demographics, hospital characteristics, and outcomes among GBS admissions to rural versus urban hospitals in the United States.

Methods: Using the 2021 National Inpatient Sample, we conducted a retrospective cohort study of adult hospitalizations with a principal diagnosis of GBS. Hospitals were classified as rural or urban based on U.S. census designations. Multivariate logistic and linear regression models were used to assess associations between hospital location and outcomes, adjusting for demographic, clinical, and hospital-level factors. …

Improving Interprofessional Neurology Training Using Tele-Education, Fariha Jamal, Amtul Farheen, Christine Rizk

Faculty, Staff and Students Publications

Background: Neurological disorders are a leading cause of disability and death worldwide. Their burden on the health care system has substantially increased in the past 25 years, due to more effective treatments and longer life expectancies. The Veterans Health Administration has seen increases in neurology referrals and patients with neurologic disorders.

Observations: Collaborative efforts among primary care, geriatrics, neurology, psychiatry, physical medicine and rehabilitation, social work, and other disciplines are needed to properly care for veterans with neurologic disorders. Neurology education is an important tool for clinicians to better care for veterans with neurologic disorders. The use of technology and …

Predictive Equation Derived From 6,497 Doubly Labelled Water Measurements Enables The Detection Of Erroneous Self-Reported Energy Intake, Rania Bajunaid, Chaoqun Niu, Catherine Hambly, Zongfang Liu, Yosuke Yamada, Heliodoro Aleman-Mateo, Liam J Anderson, Lenore Arab, Issad Baddou, Linda Bandini, Kweku Bedu-Addo, Ellen E Blaak, Carlijn V C Bouten, Soren Brage, Maciej S Buchowski, Nancy F Butte, Stefan G J A Camps, Regina Casper, Graeme L Close, Jamie A Cooper, Richard Cooper, Sai Krupa Das, Peter S W Davies, Prasangi Dabare, Lara R Dugas, Simon Eaton, Ulf Ekelund, Sonja Entringer, Terrence Forrester, Barry W Fudge, Melanie Gillingham, Annelies H Goris, Michael Gurven, Asmaa El Hamdouchi, Hinke H Haisma, Daniel Hoffman, Marije B Hoos, Sumei Hu, Noorjehan Joonas, Annemiek M Joosen, Peter Katzmarzyk, Misaka Kimura, William E Kraus, Wantanee Kriengsinyos, Rebecca Kuriyan, Robert F Kushner, Estelle V Lambert, Pulani Lanerolle, Christel L Larsson, William R Leonard, Nader Lessan, Marie Löf, Corby K Martin, Eric Matsiko, Anine C Medin, James C Morehen, James P Morton, Aviva Must, Marian L Neuhouser, Theresa A Nicklas, Christine D Nyström, Robert M Ojiambo, Kirsi H Pietiläinen, Yannis P Pitsiladis, Jacob Plange-Rhule, Guy Plasqui, Ross L Prentice, Susan B Racette, David A Raichlen, Eric Ravussin, Leanne M Redman, John J Reilly, Rebecca Reynolds, Susan B Roberts, Dulani Samaranayakem, Luis B Sardinha, Analiza M Silva, Anders M Sjödin, Marina Stamatiou, Eric Stice, Samuel S Urlacher, Ludo M Van Etten, Edgar G A H Van Mil, George Wilson, Jack A Yanovski, Tsukasa Yoshida, Xueying Zhang, Alexia J Murphy-Alford, Srishti Sinha, Cornelia U Loechl, Amy H Luke, Herman Pontzer, Jennifer Rood, Hiroyuki Sagayama, Dale A Schoeller, Klaas R Westerterp, William W Wong, John R Speakman

Faculty, Staff and Students Publications

Nutritional epidemiology aims to link dietary exposures to chronic disease, but the instruments for evaluating dietary intake are inaccurate. One way to identify unreliable data and the sources of errors is to compare estimated intakes with the total energy expenditure (TEE). In this study, we used the International Atomic Energy Agency Doubly Labeled Water Database to derive a predictive equation for TEE using 6,497 measures of TEE in individuals aged 4 to 96 years. The resultant regression equation predicts expected TEE from easily acquired variables, such as body weight, age and sex, with 95% predictive limits that can be used …