Neurology Commons^™

Vagus Nerve Stimulation Recruits The Central Cholinergic System To Enhance Perceptual Learning, Kathleen A Martin, Eleni S Papadoyannis, Jennifer K Schiavo, Saba Shokat Fadaei, Habon A Issa, Soomin C Song, Sofia Orrey Valencia, Nesibe Z Temiz, Matthew J Mcginley, David A Mccormick, Robert C Froemke

Duncan NRI Faculty and Staff Publications

Perception can be refined by experience, up to certain limits. It is unclear whether perceptual limits are absolute or could be partially overcome via enhanced neuromodulation and/or plasticity. Recent studies suggest that peripheral nerve stimulation, specifically vagus nerve stimulation (VNS), can alter neural activity and augment experience-dependent plasticity, although little is known about central mechanisms recruited by VNS. Here we developed an auditory discrimination task for mice implanted with a VNS electrode. VNS applied during behavior gradually improved discrimination abilities beyond the level achieved by training alone. Two-photon imaging revealed VNS induced changes to auditory cortical responses and activated cortically …

Frequency Of Low Impact Scores Among Adolescent And Young Adult Student-Athletes With Attention-Deficit/Hyperactivity Disorder And/Or Learning Disorder, Philip Schatz, John Cuzzupe, Justin E. Karr, Nathan E. Cook, Grant L. Iverson

Neurology Faculty Publications

Introduction: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by attention problems, excessive activity, and impulsivity - occurring in approximately 13% of children 12– 17 years of age, and as many as 16% of older adolescents 18–22 years of age, with a greater prevalence in boys than girls. ADHD frequently co-occurs with specific learning disorder (LD), a neurodevelopmental disorder characterized by difficulties learning and using academic skills, such as reading, writing, and mathematics. Taken together, ADHD and/or LD are common among high school students and college students and can influence performance on computerized tests used in concussion management. However, normative …

The Role Of A Dental Healthcare Provider, Jeffrey P. Okeson

Neurology Faculty Publications

No abstract provided.

Spinoplastic Reconstruction Using Iliac Crest Vascularized Bone Graft Following Sacral Ependymoma Resection, Edward M Reece, Nicole Van Spronsen, Calogero Velluto, Jonathan L Jeger, Christopher Fullmer, Isra Abdulwadood, Jenna Meyer, Alexander E Ropper, Sebastian Winocour, Michael A Bohl, Maziyar A Kalani

Faculty, Staff and Students Publications

Sacral reconstruction post tumor resection has historically been executed with the placement of hardware or free tissue transfer. Reconstruction using a vascularized bone graft is an alternative that avoids the complications associated with hardware placement or free tissue transfer. This article describes the first documented case of spinoplastic reconstruction using an iliac crest vascularized bone graft (IC-VBG) after the resection of a sacral ependymoma. This is a case of a 17-year-old boy with a history of a sacral myxopapillary ependymoma. He presented to a local emergency department complaining of 6 months of urinary incontinence and progressive paresthesias affecting the left …

Obturator Neurectomy For The Treatment Of Adductor Spasticity: A Novel Technique And Case Series, Maximillian S Feygin, Michael Larkin, Dan Curry, Scott B Rosenfeld, Aloysia Schwabe, Nisha Gadgil

Faculty, Staff and Students Publications

Background The management of adductor spasticity and long-term sequelae for cerebral palsy (CP) patients is complex. Hip displacement is a common consequence of CP, and obturator neurectomy (ON) is a potentially underutilized procedure to address the underlying adductor spasticity. The aim of this study is to describe the operational technique of ON and highlight the potential efficacy of ON in reducing spasticity, as well as pain, hip, and functional outcomes in these patients. Methods A total of eight patients from Texas Children's Hospital who underwent ON between 2008 and 2023 were included in this case series. Results ON led to …

Impact And Recovery Of Vha Epilepsy Care Services During The Covid-19 Pandemic, Zulfi Haneef, Erin Sullivan-Baca, Rizwana Rehman, Alan Towne, Ann C Van Cott, Aatif Husain

Faculty, Staff and Students Publications

BACKGROUND: The Epilepsy Centers of Excellence (ECoE) is a network of facilities within the Veterans Health Administration that evaluates and treats veterans with epilepsy and seizure disorders. This article outlines how the COVID-19 pandemic impacted ECoE services and recovery.

METHODS: Directors of 17 ECoEs were surveyed 4 times between May 2020 and July 2022 on 5 domains: functioning of outpatient epilepsy clinics, outpatient electroencephalogram, epilepsy monitoring unit, anticipated permanent operational changes, and utility of national and local recommendations. Data on the spread of COVID-19 and administrative workload data were compared with the availability of epilepsy services.

RESULTS: There was an …

Antiseizure Medication-Induced Hypersensitivity Reactions: Data From A Large Healthcare System, Benjamin Cadle, Feride Un Candan, Zulfi Haneef, Christopher Ryan Barton, Dylan Brock, Irfan Ali, Jaime Shoup, Cemal Karakas

Faculty, Staff and Students Publications

Background and objectives: Data on hypersensitivity reactions (HR) to individual anti-seizure medications (ASMs), and reactions to additional ASMs, is often limited by sample size. This data is vital in helping clinicians identify initial and subsequent ASMs to use in treating persons with epilepsy (PWE). Using a very large dataset, our study attempts to quantify the occurrence of HR across 31 different ASMs. We also attempt to investigate whether certain pairs of ASMs are associated with a higher frequency of HR.

Methods: The Slicer-Dicer tool in the Epic electronic medical records system was used to analyze patients seen between 2012 and …

Cohort Expansion And Genotype-Phenotype Analysis Of Rab11a-Associated Neurodevelopmental Disorder, Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Sandra Whalen, Cyril Mignot, Xiaodong Wang, Qian Chen, Jill A Rosenfeld, Scott Mclean, Rebecca O Littlejohn, Undiagnosed Diseases Network, Lisa Emrick, Lindsay C Burrage, Ruben Attali, Gaetan Lesca, Cecile Acquaviva-Bourdain, Catherine Sarret, Laurie H Seaver, Konrad Platzer, Tobias Bartolomaeus, Cornelia Wünsch, Susann Fischer, Ana Maria Rodriguez Barreto, Jorge L Granadillo, Elisabeth Schreiner, Theresa Brunet, Ulrich A Schatz, Isabelle Thiffault, Sureni V Mullegama, Jacques L Michaud, Fadi F Hamdan, Elsa Rossignol, Philippe M Campeau

Faculty, Staff and Students Publications

Background: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of RAB11A-associated neurodevelopmental disorder and explore genotype-phenotype correlations.

Methods: We assessed 16 patients with pathogenic or likely pathogenic RAB11A variants, generally de novo, heterozygous missense variants. One individual had a homozygous nonsense variant, although concomitant with a pathogenic LAMA2 variant, which made their respective contributions to the phenotype difficult to discriminate.

Results: We reinforce the …

Association Between Risk Of Alzheimer’S Disease And Related Dementias And Angiotensin Receptor Ⅱ Blockers Treatment For Individuals With Hypertension In High-Volume Claims Data, Sori Kim Lundin, Xinyue Hu, Jingna Feng, Karl Kristian Lundin, Lu Li, Yong Chen, Paul Ernest Schulz, Cui Tao

Faculty, Staff and Student Publications

Background: Findings regarding the protective effect of Angiotensin II receptor blockers (ARBs) against Alzheimer's disease and related dementias (AD/ADRD) and cognitive decline have been inconclusive.

Methods: Individuals with hypertension who do not have any prior ADRD diagnosis were included in this retrospective cohort study from Optum's de-identified Clinformatics® Data Mart. We identified antihypertensive medication (AHM) drug classes and subclassified ARBs by blood-brain barrier (BBB) permeability. We compared baseline characteristics and used the Kaplan-Meier (KM) survival curve and adjusted Cox proportional hazards (PH) model for survival analyses.

Findings: From 6,390,826 individuals with hypertension, there were 1,839,176 ARB users, 3,366,841 non-ARB AHM …

Tfeb Controls Syncytiotrophoblast Formation And Hormone Production In Placenta, Marcella Cesana, Gennaro Tufano, Francesco Panariello, Nicolina Zampelli, Chiara Soldati, Margherita Mutarelli, Sandro Montefusco, Giuseppina Grieco, Lucia Vittoria Sepe, Barbara Rossi, Edoardo Nusco, Giada Rossignoli, Giorgia Panebianco, Fabrizio Merciai, Emanuela Salviati, Eduardo Maria Sommella, Pietro Campiglia, Graziano Martello, Davide Cacchiarelli, Diego Luis Medina, Andrea Ballabio

Duncan NRI Faculty and Staff Publications

TFEB, a bHLH-leucine zipper transcription factor belonging to the MiT/TFE family, globally modulates cell metabolism by regulating autophagy and lysosomal functions. Remarkably, loss of TFEB in mice causes embryonic lethality due to severe defects in placentation associated with aberrant vascularization and resulting hypoxia. However, the molecular mechanism underlying this phenotype has remained elusive. By integrating in vivo analyses with multi-omics approaches and functional assays, we have uncovered an unprecedented function for TFEB in promoting the formation of a functional syncytiotrophoblast in the placenta. Our findings demonstrate that constitutive loss of TFEB in knock-out mice is associated with defective formation of …

Pushing The Boundaries Of Rare Disease Diagnostics With The Help Of The First Undiagnosed Hackathon, Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Håkan Thonberg, Anders Jemt, Daniel Nilsson, Jesper Eisfeldt, Kristine Bilgrav Saether, Ida Höijer, Ozlem Akgun-Dogan, Yui Asano, Tahsin Stefan Barakat, Dominyka Batkovskyte, Gareth Baynam, Olaf Bodamer, Wanna Chetruengchai, Pádraic Corcoran, Madeline Couse, Daniel Danis, German Demidov, Eisuke Dohi, Mattias Erhardsson, Luis Fernandez-Luna, Toyofumi Fujiwara, Neha Garg, Roberto Giugliani, Claudia Gonzaga-Jauregui, Giedre Grigelioniene, Tudor Groza, Cecilia Gunnarsson, Anna Hammarsjö, Charles Kumi Hammond, Özden Hatirnaz Ng, Sirisha Hesketh, Dineshani Hettiarachchi, Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg, Malin Kvarnung, Oleg Kvlividze, Kristina Lagerstedt-Robinson, Paul Lasko, Timo Lassmann, Lynette Y S Lau, Steven Laurie, Weng Khong Lim, Zhandong Liu, Mariya Lysenkova Wiklander, Prince Makay, Alassane Baneye Maiga, Carolina Maya-González, M Stephen Meyn, Ramprasad Neethiraj, Vincenzo Nigro, Felix Nordgren, Jessica Nordlund, Sara Orrsjö, Jesper Ottosson, Ugur Ozbek, Özkan Özdemir, Clyde Partin, David A Pearce, Raquel Peck, Annie Pedersen, Maria Pettersson, Monnat Pongpanich, Manuel Posada De La Paz, Arun Ramani, Juan Andres Romero, Vanessa I Romero, Richard Rosenquist, Aung Min Saw, Matthew Spencer, Eva-Lena Stattin, Chalurmpon Srichomthong, Isabel Tapia-Paez, Domenica Taruscio, Julie P Taylor, Tinatin Tkemaladze, Ian Tully, Zeynep Tümer, Wendy A G Van Zelst-Stams, Alain Verloes, Emma Västerviga, Sailan Wang, Rachel Yang, Shinya Yamamoto, Vicente A Yépez, Qing Zhang, Vorasuk Shotelersuk, Samuel Agyei Wiafe, Yasemin Alanay, Lorenzo D Botto, Salman Kirmani, Aimé Lumaka, Elizabeth Emma Palmer, Ratna Dua Puri, Valtteri Wirta, Anna Lindstrand, Orion J Buske, Mikk Cederroth, Ann Nordgren

Duncan NRI Faculty and Staff Publications

The first-ever Undiagnosed Hackathon was a groundbreaking event held by the Wilhelm Foundation, the Karolinska Undiagnosed Disease Program, and PhenoTips in collaboration with UDNI to solve medical mysteries and advance diagnostics for undiagnosed rare diseases. Nearly 100 healthcare professionals and researchers from 28 countries participated, working intensively for 48 hours to diagnose 10 families with undiagnosed rare diseases. This innovative approach to precision diagnostics highlighted the power of international, multidisciplinary collaboration and patient partnership, yielding promising results for patients seeking answers and benefiting the entire rare diseases community.

The Evolving Pathophysiology Of Tbi And The Advantages Of Temporally-Guided Combination Therapies, Laura Zima, Anthony N Moore, Paul Smolen, Nobuhide Kobori, Brian Noble, Dustin Robinson, Kimberly N Hood, Ryota Homma, Amar Al Mamun, John B Redell, Pramod K Dash

Faculty, Staff and Student Publications

Several clinical and experimental studies have demonstrated that traumatic brain injury (TBI) activates cascades of biochemical, molecular, structural, and pathological changes in the brain. These changes combine to contribute to the various outcomes observed after TBI. Given the breadth and complexity of changes, combination treatments may be an effective approach for targeting multiple detrimental pathways to yield meaningful improvements. In order to identify targets for therapy development, the temporally evolving pathophysiology of TBI needs to be elucidated in detail at both the cellular and molecular levels, as it has been shown that the mechanisms contributing to cognitive dysfunction change over …

Perceived Partner Responsiveness Alters The Association Between Marital Distress And Well-Being In Dementia Spousal Caregivers, Vincent D Lai, Jensine Paoletti-Hatcher, E Lydia Wu-Chung, Itee Mahant, Daniel L Argueta, Kelly N Brice, Bryan T Denny, Charles Green, Luis D Medina, Paul E Schulz, Jennifer M Stinson, Cobi J Heijnen, Christopher P Fagundes

Faculty, Staff and Student Publications

Caregivers for spouses with Alzheimer's disease and related dementias (ADRD) experience drastic changes in the marital relationship that may put them at risk for worsening well-being. Perceived partner responsiveness, or feeling cared for, understood, and appreciated by one's spouse, may help mitigate these effects. In this study, we investigated the associations between marital distress, perceived partner responsiveness, and psychological and physiological well-being indicators among ADRD spousal caregivers.

Method: A sample of 161 caregivers provided blood samples and completed self-report measures of marital distress, perceived partner responsiveness, and depressive symptoms. We tested hypotheses in our sample cross-sectionally based on two theoretical …

White Matter And Latency Of Visual Evoked Potentials During Maturation: A Miniature Pig Model Of Adolescent Development, Peter Kochunov, L Elliot Hong, Ann Summerfelt, Si Gao, P Leon Brown, Matthew Terzi, Ashley Acheson, Marty G Woldorff, Els Fieremans, Ali Abdollahzadeh, Korrapati V Sathyasaikumar, Sarah M Clark, Robert Schwarcz, Paul D Shepard, Greg I Elmer

Faculty, Staff and Student Publications

Background: Continuous myelination of cerebral white matter (WM) during adolescence overlaps with the formation of higher cognitive skills and the onset of many neuropsychiatric disorders. We developed a miniature-pig model of adolescent brain development for neuroimaging and neurophysiological assessment during this critical period. Minipigs have gyroencephalic brains with a large cerebral WM compartment and a well-defined adolescence period.

Methods: Eight Sinclair™ minipigs (Sus scrofa domestica) were evaluated four times during weeks 14-28 (40, 28 and 28 days apart) of adolescence using monocular visual stimulation (1 Hz)-evoked potentials and diffusion MRI (dMRI) of WM. The latency for the pre-positive 30 ms …

Durable Local Control With Hypofractionated Radiation Therapy For Unresectable Or Metastatic Melanoma, Sydney A Keatts, Aya F Salem, David M Swanson, Ahsan S Farooqi, Andrew J Bishop, Rodabe N Amaria, Jennifer L Mcquade, Isabella C Glitza Oliva, Adi Diab, Roi Weiser, Sarah B Fisher, Ryan P Goepfert, Merrick I Ross, B Ashleigh Guadagnolo, Devarati Mitra

Faculty, Staff and Student Publications

BACKGROUND AND PURPOSE: As patients with advanced melanoma live longer in the context of systemic therapy advancements, better strategies for durable control of bulky tumors are needed. In this study, we evaluated if dose-escalated hypofractionated radiation therapy (HFRT) can provide durable local control and improve tumor-associated symptoms in patients with unresectable or bulky metastatic melanoma for whom stereotactic ablative radiotherapy (RT) approaches are not feasible due to tumor size or location.

MATERIALS AND METHODS: We retrospectively reviewed 49 patients with unresectable or bulky metastatic melanoma who were treated to a total of 53 tumor targets with 12-17 fractions HFRT at …

Glymphatic Dysfunction In Multiple Sclerosis And Its Association With Disease Pathology And Disability, Ahmed Bayoumi, Khader M Hasan, Joseph A Thomas, Akram Yazdani, John A Lincoln

Faculty, Staff and Student Publications

Background: The role of the glymphatic system in multiple sclerosis (MS)-related disability remains underexplored. Diffusion-tensor image analysis along the perivascular space (DTI-ALPS) offers a non-invasive method to assess glymphatic function.

Objective: To evaluate glymphatic function in MS patients with lower and higher disability.

Methods: This study included 118 MS patients who underwent structural, diffusion-weighted imaging, and clinical assessment. The participants were divided into lower (MS-L, n = 57) and higher disability (MS-H, n = 61) subgroups. Brain parenchymal fraction (BPF), lesion load (LL), and DTI-ALPS index were measured. Subgroup differences and correlations between DTI-ALPS index and other measures were explored. …

Removing Lead From The Global Economy, Stephen P. Luby, Jenna E. Forsyth, Zafar Fatmi, Mahbubur Rahman, Jesmin Sultana, Erica L. Plambeck, N Grant Miller, Eran Bendavid, Peter J. Winch, Howard Hu

Community Health Sciences

No abstract provided.

Memory Impairment In Post-Covid-19 Syndrome; What Is The Evidence?, Luciano Luiz Alt, Amanda Delai Bortolini, Bruna Santin Andreis, Caroline Arais Schmidt, Giovana Rugeri, Maria Clara Tonini Pagliarin, Maria Eduarda Dupond Kindel, Maria Fernanda Almeida Costa, Nathália Lorenzoni Costa, Pedro Henrique Sarmento Dariz, Vinícius Grasselli Omizzolo

Journal of Mind and Medical Sciences

Objectives. Although COVID-19 mainly affects the respiratory system, it can also cause neurological complications like memory impairment, which may be part of post-COVID-19 Syndrome. Identifying these impairments is challenging due to the lack of approaches and limited follow-up. This systematic review aimed to identify the effects of COVID-19 on memory. Methods. Analyzing articles from PubMed, SciELO, and VHL databases, focusing on the relationship between COVID-19 infection and memory impairment. Results. COVID-19 infection was linked to significant declines in memory function. The severity of infection correlated with the intensity of neurological sequelae, particularly memory impairment, with cognitive and executive functions most …

Ocular Myasthenia Gravis; A Case Report, Amy Garbo Maxey Od, Kristin Wilson Od

Optometric Clinical Practice

Abstract

Background: Myasthenia gravis (MG) is an autoimmune disease disorder that affects the skeletal muscles causing increased fatigability and weakness. When it affects the ocular muscles only, it is known as ocular myasthenia gravis (OMG). Patients with OMG will often have symptoms of diplopia and ptosis, which will be worse towards the end of the day. This case report will discuss the common symptoms of OMG as well as the appropriate treatment and management. It will also review the diagnostic tests used to aid in the diagnosis of OMG and discuss the prognosis of OMG. Case Report: A 67-year-old male …

Effective Deep Brain Stimulation For Obsessive-Compulsive Disorder After Failed Anterior Capsulotomy: Illustrative Cases, Anthony K Allam, Nisha Giridharan, Mohammed Hasen, Garrett P Banks, Gabriel Reyes, Huy Dang, Katherine E Kabotyanski, Alyssa G Hertz, Sarah R Heilbronner, Nicole Provenza, Eric A Storch, Wayne K Goodman, Sameer A Sheth

Faculty, Staff and Students Publications

BACKGROUND: Obsessive-compulsive disorder (OCD) is a psychiatric condition characterized by recurrent, unwanted thoughts (obsessions) and repetitive behaviors (compulsions) performed to relieve distress related to the obsessions. For patients with severe illness refractory to first-line pharmacotherapy and psychotherapy, neurosurgical treatments such as deep brain stimulation (DBS) and stereotactic lesioning are an option. The choice between DBS and lesioning is often driven by patient preference, but these options are not mutually exclusive. Here, the authors highlight the success of one surgical therapy (DBS) after the failure of another (lesioning).

OBSERVATIONS: Two patients with severe, treatment-refractory OCD underwent DBS lead implantation targeting the …