Neurology Commons^™

Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk

Department of Pediatrics Faculty Papers

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a …

The Importance Of An Early Onset Of Migraine Preventive Disease Control: A Roundtable Discussion, Christopher Gottschalk, Anirban Basu, Andrew Blumenfeld, Bradley Torphy, Michael J. Marmura, Jelena M. Pavlovic, Paula K. Dumas, Nim Lalvani, Dawn C. Buse

Department of Jefferson Headache Center papers and presentations

Background: Newly approved migraine preventive therapies have allowed for rapid control of migraine activity, offering potential to minimize the burden of migraine. This report summarizes a roundtable discussion convened to analyze evidence for early onset of prevention, ascertain its clinical relevance, and provide guidance for healthcare professionals in crafting goals and treatment expectations for patients with migraine initiating preventive therapy.

Methods: A virtual roundtable meeting of migraine clinicians, researchers, and patient advocates convened in October 2020. Participants reviewed and discussed data summarizing patient and healthcare professional perceptions of migraine prevention and evidence from the peer-reviewed and gray literature to develop …

Neurodevelopment Assessment Of Small For Gestational Age Children In A Community-Based Cohort From Pakistan, Sabahat Naz, Zahra Hoodbhoy, Ali Jaffar, Sidra Kaleem Jafri, Babar Hasan, Devyani Chowdhury, Melissa Gladstone

Department of Paediatrics and Child Health

Background: Children born small for gestational age (SGA) may experience more long-term neurodevelopmental issues than those born appropriate for gestational age (AGA). This study aimed to assess differences in the neurodevelopment of children born SGA or AGA within a periurban community in Pakistan.
Methods: This was a prospective cohort study in which study participants were followed from the pilot Doppler cohort study conducted in 2018. This pilot study aimed to develop a pregnancy risk stratification model using machine learning on fetal Dopplers. This project identified 119 newborns who were born SGA (2.4±0.4 kg) based on International Fetal and Newborn Growth …

Cannabidiol, ∆9 -Tetrahydrocannabinol, And Metabolites In Human Blood By Volumetric Absorptive Microsampling And Lc-Ms/Ms Following Controlled Administration In Epilepsy Patients, Federica Pigliasco, Sara Malaca, Alfredo Fabrizio Lo Faro, Anastasio Tini, Giuliana Cangemi, Alessia Cafaro, Sebastiano Barco, Antonella Riva, Angelica Pisati, Elisabetta Amadori, Pasquale Striano, Adriano Tagliabracci, Marilyn A. Huestis, Francesco Paolo Busardò

Institute of Emerging Health Professions Faculty Papers

Cannabidiol (CBD) exhibits anti-inflammatory, anxiolytic, antiseizure, and neuroprotective proprieties without addictive or psychotropic side effects, as opposed to Δ9-tetrahydrocannabinol (THC). While recreational cannabis contains higher THC and lower CBD concentrations, medical cannabis contains THC and CBD in different ratios, along with minor phytocannabinoids, terpenes, flavonoids and other chemicals. A volumetric absorptive microsampling (VAMS) method combined with ultra-high-performance liquid chromatography coupled with mass spectrometry in tandem for quantification of CBD, THC and their respective metabolites: cannabidiol-7-oic acid (7-COOH-CBD); 7-hydroxy-cannabidiol (7-OH-CBD); 6-alpha-hydroxy-cannabidiol (6-α-OH-CBD); and 6-beta-hydroxycannabidiol (6-β-OH-CBD); 11- Hydroxy-Δ9-tetrahydrocannabinol (11-OH-THC) and 11-Nor-9-carboxy-Δ9-tetrahydrocannabinol (THCCOOH). After overnight enzymatic glucuronide hydrolysis at 37°C, samples underwent acidic …

Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott

Department of Pediatrics Faculty Papers

Motor neuron diseases (MNDs) are neuromuscular disorders where the spinal motor neurons–either the cell bodies themselves or their axons–are the primary cells affected. To date, there are 120 different genes that are lost or mutated in pediatric-onset MNDs. Most of these childhood-onset disorders, aside from spinal muscular atrophy (SMA), lack viable therapeutic options. Previous research on MNDs has focused on understanding the pathobiology of a single, specific gene mutation and targeting therapies to that pathobiology. This reductionist approach has yielded therapeutic options for a specific disorder, in this case SMA. Unfortunately, therapies specific for SMA have not been effective against …

Multimorbidity And Cognition Among Canadian Older Adults: A Three-Decade Perspective, Juan Camilo Vargas Gonzalez

Electronic Thesis and Dissertation Repository

Background: Scarce information exists about whether the relationship between multimorbidity and cognitive decline has changed over the past decades.

Objectives: 1) To summarize knowledge about the association of multimorbidity and cognitive decline by performing a systematic review. 2) To estimate the association between multimorbidity in two cohorts selected three decades apart. 3)To identify which multimorbidity combinations have the strongest associations with cognitive decline 4) To identify protective factors that reduce the risk of cognitive decline in the presence of multimorbidity.

Methods: We performed a systematic review following the PRISMA statement. We then addressed objectives 2-4 by analyzing data from two …

Gastric Perforation From A Migrating Ventriculoperitoneal Shunt: A Case Report And Review Of Literature, Alessio Scarascia, Elias Atallah, Maria De Abreu Pineda, Robert H. Rosenwasswer, Kevin Judy

Department of Neurosurgery Faculty Papers

Ventriculoperitoneal (VP) shunts represent a surgical option for patients affected by increased intracranial hypertension when medical management fails or is contraindicated. Complications following implantation include shunt obstruction, infection, over and under drainage, migration or disconnection of the tube, formation of a pseudocyst, and allergy to the silicone tube. We report the case of a 31-year-old woman who presented to the emergency room with nausea and generalized malaise, found to have the distal segment of the VP catheter perforating her gastric wall into the stomach lumen which required surgical intervention. In this report, we describe a rare complication associated with the …

The Use Of Virtual Tools In Narrowing The Impact Of Health Disparities In Neurology., Jean-Baptist Lepichon, Stephanie Horton, Omar Abdelmoity, Mark A. Hoffman, Emily Cramer, Nirmeen Kishk, Salah Hamada, Ahmed Abdelmoity

Manuscripts, Articles, Book Chapters and Other Papers

The concept of Epilepsy Treatment Gap (ETG) refers to the proportion of people with epilepsy who are not being appropriately treated. The ETG in the USA approaches 10%, with historically underserved populations and rural populations disproportionately affected. The ETG in Low-and Middle-Income Countries (LMIC) is reported to be 5-10 times higher than in high-income countries. The growing availability of reliable internet access offers a unique opportunity to provide better care to children and adults with epilepsy. In this paper we explore various telehealth (TH) initiatives that have leveraged the availability of easy and free access to an internet connection in …

Comparing Patient Mobility Pre- And Post Amp Implementation Acrossmedical 5, 4mnt, Stu, And Neurology Units At Our Lady Of The Lake Regional Medical Center, Jayne Mora, Evan Sinnathamby, Hannah Robinson, Logan Arceneaux, Alyse Hollis, Hunter Collins, Micah Klumpp, Christopher Thomas

Medical Research Day

BACKGROUND: Decreased mobility during hospitalization and recovery is a major contributor to poor healthcare outcomes and increased lengths of stay. Neglecting patient mobility also carries risks including, but not limited to, an increased likelihood of falling, difficulties performing basic activities, pressure injuries, and venous thromboembolism. Prevention of hospitalacquired loss of function is therefore essential in improving patient care and the healing process. Our Lady of the Lake Regional Medical Center was chosen to participate in a proposed project in association with Johns Hopkins to evaluate the implementation and impact of a transdisciplinary and multifaceted mobility program known as Activity and …

A Low-Cost Biofeedback Tool For Automated Assessments Of Upper Extremity Function In Stroke Patients, Syed A. Zamin, Kaichen Tang, Emily A. Stevens, Xiaoqian Jiang, Sean Savitz, Shayan Shams

Medical Research Day

Studies report up to 85% of stroke survivors experience upper extremity (UE) hemiparesis1 and 78% fail to achieve the average UE function for their age, even after 3 months of treatment2. Limited access to outpatient rehabilitation for these survivors worsens the issue; in Texas, 71% of rural counties lack rehabilitation clinics for stroke patients. To mitigate issues involving healthcare accessibility, research has been undertaken to automate scoring of the Fugl-Meyer assessment, the standard stroke rehabilitation scale describing upper extremity motor function, to alleviate physician burden and inform physical therapists of disabilities. We aim to demonstrate the feasibility of using a …

Intraoperative Changes In Somatosensory Evoked Potentials As A Predictor Of Perioperative Stroke In Carotid Endarterectomy, Justin W. Meinert Bphil, Parthatharasy D. Thirumala Md, Jeffrey R. Balzer Phd, Donald J. Crammond Phd, Eyad E. Saca Md

Tower Health Research Day

No abstract provided.

A Rare Presentation Of Guillain Barre Syndrome (Gbs) Secondary To Pneumococcal Conjugate Vaccination, Michael Juszczak, Jedidah Prum, Anishinder Parkash, William Gleason

Tower Health Research Day

No abstract provided.

Alzheimer's Disease, Dylan L. Weber

Student Publications

An overview of the background, etiology, pathophysiology, clinical features, diagnosis, treatment and prevention of Alzheimer's disease.

Outcomes Of Children With Low-Grade Gliomas In Low- And Middle-Income Countries: A Systematic Review, Richard Ward, Hannah M Jones, Davis Witt, Frederick Boop, Eric Bouffet, Carlos Rodriguez-Galindo, Ibrahim Qaddoumi, Daniel C Moreira

Department of Medical Oncology Faculty Papers

Purpose: Pediatric CNS tumors are increasingly a priority, particularly with the WHO designation of low-grade glioma (LGG) as one of six index childhood cancers. There are currently limited data on outcomes of pediatric patients with LGGs in low- and middle-income countries (LMICs).

Methods: To better understand the outcomes of LGGs in LMICs, this systematic review interrogated nine literature databases.

Results: The search identified 14,977 publications. Sixteen studies from 19 countries met the selection criteria and were included for data abstraction and analysis. Eleven studies (69%) were retrospective reviews from single institutions, and one (6%) captured institutional data prospectively. The studies …

Hypoglossal Nerve Injury With C1 Lateral Mass Screw Placement: A Case Report And Review Of The Literature, Maria De Abreu Pineda, Elias Atallah, John Wainwright, Joseph Schaefer, Aria Mahtabfar, James S Harrop, Srinivas Prasad, Joshua Pelta-Heller, Ashwini Sharan, Ahilan Sivaganesan, Jack Jallo

Department of Neurosurgery Faculty Papers

We report the case of a 62-year-old man who presented with a progressive myelopathy secondary to spinal cord compression from an odontoid process fracture and subaxial central canal stenosis. The patient underwent a C1-T2 posterior decompression and instrumented fusion (PCDF) and did well immediately postoperatively. However, on POD1, he developed a right hypoglossal nerve (HN) palsy attributed to direct mechanical compression or injury from the C1 lateral mass screw (LMS), which improved following a revision and screw replacement. While HN injury is a known complication of high anterior and anterolateral cervical spine approaches as well as transcondylar screw fixation, this …

Adolescent Athletes’ Perspectives On The Social Implications Of Sport-Related Concussion, Tamara C. Valovich Mcleod, Justin S. Disanti, Richelle M. Williams, Cailee E. Welch Bacon

Internet Journal of Allied Health Sciences and Practice

Purpose: Sport-related concussion can affect many domains of a patient’s health status. Social functioning is an important consideration, especially for adolescent athletes. Our purpose was to explore adolescent athletes’ social perspectives regarding sport and concussion. Methods: Using a qualitative study design we interviewed 12 interscholastic athletes who had sustained a sport-related concussion. The interviews focused on injury details, and explored the physical, psychosocial, emotional, and spiritual components of sport and health. Themes and categories were identified using the consensual qualitative research process by a three-person research team. A comprehensive codebook that captured the main themes and categories resulted. Results: Following …

Case Report: The Promising Application Of Dynamic Functional Connectivity Analysis On An Individual With Failed Back Surgery Syndrome, Jingya Miao, Isaiah Ailes, Laura Krisa, Kristen Fleming, Devon Middleton, Kiran Talekar, Peter Natale, Feroze B. Mohamed, Kevin Hines, Caio M. Matias, Mahdi Alizadeh

Department of Neurosurgery Faculty Papers

Failed back surgery syndrome (FBSS), a chronic neuropathic pain condition, is a common indication for spinal cord stimulation (SCS). However, the mechanisms of SCS, especially its effects on supraspinal/brain functional connectivity, are still not fully understood. Resting state functional magnetic resonance imaging (rsfMRI) studies have shown characteristics in patients with chronic low back pain (cLBP). In this case study, we performed rsfMRI scanning (3.0 T) on an FBSS patient, who presented with chronic low back and leg pain following her previous lumbar microdiscectomy and had undergone permanent SCS. Appropriate MRI safety measures were undertaken to scan this subject. Seed-based functional …

Evaluation Of Respiratory Function Using Blood Gas Parameters In Yucatan Minipigs Following Spinal Cord Injury, Jackson Gallagher, Monique Morgan, Chase Knibbe, Destiny Gibson, Maxwell Boakye

The Cardinal Edge

There are approximately 17,810 new spinal cord injuries (SCI) in the U.S. each year [1]. Physical damage to the spinal cord has the potential to interfere with normal motor, sensory, and/or autonomic function, such as impairment of the respiratory system. In fact, respiratory insufficiency is the number one cause of mortality and morbidity after SCI. The more rostral the injury, the more likely there will be disruption to normal ventilation (generally rostral to T6) [2]. To conduct relevant preclinical research, it has been shown that large animal models, such as the Yucatan minipig, have a better success rate of translating …

Bridging Thrombolysis In Atrial Fibrillation Stroke Is Associated With Increased Hemorrhagic Complications Without Improved Outcomes, Feras Akbik, Ali Alawieh, Laurie Dimisko, Brian M. Howard, C Michael Cawley, Frank C. Tong, Fadi Nahab, Owen B. Samuels, Ilko Maier, Wuwei Feng, Nitin Goyal, Robert M. Starke, Ansaar Rai, Kyle M. Fargen, Marios N. Psychogios, Pascal Jabbour, Reade De Leacy, Saleh G. Keyrouz, Travis M. Dumont, Peter Kan, Jan Liman, Adam S. Arthur, Stacey Q. Wolfe, J. Mocco, Roberto Javier Crosa, W Christopher Fox, Benjamin Gory, Alejandro M. Spiotta, Jonathan A. Grossberg

Department of Neurosurgery Faculty Papers

BACKGROUND: Atrial fibrillation (AF) associated ischemic stroke is associated with worse functional outcomes, less effective recanalization, and increased rates of hemorrhagic complications after intravenous thrombolysis (IVT). Conversely, AF is not associated with hemorrhagic complications or functional outcomes in patients undergoing mechanical thrombectomy (MT). This differential effect of MT and IVT in AF associated stroke raises the question of whether bridging thrombolysis increases hemorrhagic complications in AF patients undergoing MT.

METHODS: This international cohort study of 22 comprehensive stroke centers analyzed patients with large vessel occlusion (LVO) undergoing MT between June 1, 2015 and December 31, 2020. Patients were divided into …

A Rare Case Of Pembrolizumab Associated Encephalopathy, Sijan Basnet, Rajanbir Singh, Biswaraj Tharu, Tushar Pawar, Garima Basnet

Journal of Community Hospital Internal Medicine Perspectives

We present a unique case of a 55-year-old man with confusion thought to be due to pembrolizumab which he was receiving for renal cell carcinoma. His workup for other possible etiologies for encephalopathy was negative. He was treated with high dose intravenous methylprednisolone followed by prednisone taper and intravenous immunoglobulin with gradual improvement in his mentation.