Nervous System Diseases Commons^™

Intellectual Disability Related To De Novo Germline Loss Of The Distal End Of The P-Arm Of Chromosome 17: A Case Report, Eden Pope, Matthew Huertas, Amar Paul, Braden Cunningham, Matthew Jennings, Ryan Perry, Stephanie Chavez, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

Hypothesis/Purpose: In this report we present a case of a 20-year-old female with congenital intellectual disability, stunted growth, and hypothyroidism. Competitive genetic hybridization (CHG) revealed a loss of 17p13.3, and the deletion was not present in either parent. This deletion has not previously been characterized, but mutations on the p-arm of chromosome 17 are responsible for Miller-Dieker Syndrome and Isolated Lissencephaly Sequence, both of which share symptoms in common with the patient.

Methods: Peripheral mononuclear cells (PBMCs) were used for karyotyping and competitive genetic hybridization (CHG). Bioinformatic analysis was carried out using the Genome Data Viewer (ncbi.nlm.nih.gov/genome/gdv).

Results: Karyotype was …

Testing Extraction Of Dna From Lipid-Rich Tissues Using Various Reagents And Commercially Available Kits, Ryan V. Powers, Walker C. Kay, Jonathon C. Reynolds, Nathaniel E. Hill, Cole J. Farnsworth, Molly E. Henley, Alfred B. Amendolara, Noah D. Boekweg, John A. Kriak, Kyle B. Bills, David W. Sant

Annual Research Symposium

No abstract provided.

Mclena-1: A Phase Ii Clinical Trial For The Assessment Of Safety, Tolerability, And Efficacy Of Lenalidomide In Patients With Mild Cognitive Impairment Due To Alzheimer's Disease; Trial Design And Rationale, Boris Decourt

Annual Research Symposium

No abstract provided.

Lipomatosis Of Nerve, Mehruba Alam, Thomas Benjamin Lyle Wasden

Annual Research Symposium

Lipomatosis of nerve is a benign lesion with increased fibrofatty tissue infiltrating and surrounding nerves, usually occurring in children and young adults as a slowly progressive swelling or mass, which can clinically mimic a tumor or malignancy. Here we report a 59-year-old man who presented with pain in his right foot and a mass that has been mostly stable for years, but which seems to have grown slightly of late, and is clinically suspicious for ganglion cyst. The MRI revealed a fatty mass concerning for lipoma or atypical lipomatous tumor. Consequently, the patient underwent excisional biopsy. The H&E sections showed …

Dissociating Statistically Determined Normal Cognitive Abilities And Mild Cognitive Impairment Subtypes With Dctclock., Emily F. Matusz, Catherine C. Price, Melissa Lamar, Rod Swenson, Rhoda Au, Sheina Emrani, Victor Wasserman, David J Libon, Louisa I. Thompson

Rowan-Virtua School of Osteopathic Medicine Departmental Research

OBJECTIVE: To determine whether the DCTclock can detect differences across groups of patients seen in the memory clinic for suspected dementia.

METHOD: Patients (n = 123) were classified into the following groups: cognitively normal (CN), subtle cognitive impairment (SbCI), amnestic cognitive impairment (aMCI), and mixed/dysexecutive cognitive impairment (mx/dysMCI). Nine outcome variables included a combined command/copy total score and four command and four copy indices measuring drawing efficiency, simple/complex motor operations, information processing speed, and spatial reasoning.

RESULTS: Total combined command/copy score distinguished between groups in all comparisons with medium to large effects. The mx/dysMCI group had the lowest total …

Capture Als: The Comprehensive Analysis Platform To Understand, Remedy And Eliminate Als, Vincent Picher-Martel, Claire Magnussen, Mathieu Blais, Tania M. Bubela, Samir Das, Annie Dionne, Alan C. Evans, Angela Genge, Russell Greiner, Yasser Iturria-Medina

Office of the Provost

The absence of disease modifying treatments for amyotrophic lateral sclerosis (ALS) is in large part a consequence of its complexity and heterogeneity. Deep clinical and biological phenotyping of people living with ALS would assist in the development of effective treatments and target specific biomarkers to monitor disease progression and inform on treatment efficacy. The objective of this paper is to present the Comprehensive Analysis Platform To Understand Remedy and Eliminate ALS (CAPTURE ALS), an open and translational platform for the scientific community currently in development. CAPTURE ALS is a Canadian-based platform designed to include participants' voices in its development and …

Multiple Sclerosis And Neuromyelitis Optica Spectrum Disorder: Onset Following Acute Covid-19 Infection, A Case Series, Mirla Avila, Yuanyuan Tan, Roberto Hernandez, Hafsa Zuberi, Victor M Rivera

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: Acute COVID-19 infection has been associated with neurological involvement. We report a case series of newly diagnosed patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) developed in a short period of time after acute COVID-19 infection.

METHODS: New MS patients developing initial symptoms shortly after an acute COVID-19 infection were diagnosed based on the 2017 McDonald Criteria [Garcia-Ramos et al. in Cells, 2021]. The patients diagnosed with NMOSD met the 2015 International Panel criteria for the diagnosis of NMOSD (IPDN) [Thompson et al. in Lancet Neurol 17:162-173, 2018].

RESULTS FROM THE MS PATIENT GROUP: …

A Brief Overview Of Triple A Syndrome, Jamaal Khan

Mako: NSU Undergraduate Student Journal

Triple A Syndrome, also known as AAA Syndrome, is a rare autosomal recessive disorder caused by any mutation in the AAAS gene on chromosome 12q13, whose main function is to code for the WD-repeat family regulatory protein, ALADIN. It typically occurs as a group of diseases that are characterized by alacrima, Addison's disease, and achalasia. Alacrima can be defined by a decrease in the amount of tears produced while achalasia is nerve damage in the esophagus that can cause difficulty swallowing. Lastly, Addison's disease is the insufficient production of cortisol and aldosterone produced by the adrenal cortex. There is no …

Demonstrating New-Onset Or Worsened Sudomotor Function Post-Covid-19 On Comparative Analysis Of Autonomic Function Pre-And Post-Sars-Cov-2 Infection, Aditi Varma-Doyle, Nicole R. Villemarette-Pittman, Paul Lelorier, John England

School of Medicine Faculty Publications

Background: Autonomic dysfunction including sudomotor abnormalities have been reported in association with SARS-CoV-2 infection. Objective: There are no previous studies that have compared autonomic function objectively in patients pre- and post- SARS-CoV-2 infection. We aimed to identify if SARS-CoV-2 virus is triggering and/or worsening dysautonomia by comparing autonomic function tests in a group of patients pre-and post-SARS-CoV-2 infection. Design/methods: Six participants were enrolled and divided into two groups. The first group of 4 participants reported worsened autonomic symptoms post-SARS-CoV-2 infection. These individuals had their first autonomic test prior to COVID-19 pandemic outbreak (July 2019–December 2019). Autonomic function testing was repeated …

Estimating Dementia Risk In An African American Population Using The Dctclock, Marissa Ciesla, Jeff Pobst, Joyce Gomes-Osman, Melissa Lamar, Lisa L Barnes, Russell Banks, Ali Jannati, David Libon, Rodney Swenson, Sean Tobyne, David Bates, John Showalter, Alvaro Pascual-Leone

Rowan-Virtua School of Osteopathic Medicine Departmental Research

The prevalence of Alzheimer's disease (AD) and related dementias (ADRD) is increasing. African Americans are twice as likely to develop dementia than other ethnic populations. Traditional cognitive screening solutions lack the sensitivity to independently identify individuals at risk for cognitive decline. The DCTclock is a 3-min AI-enabled adaptation of the well-established clock drawing test. The DCTclock can estimate dementia risk for both general cognitive impairment and the presence of AD pathology. Here we performed a retrospective analysis to assess the performance of the DCTclock to estimate future conversion to ADRD in African American participants from the Rush Alzheimer's Disease Research …

Reliability Of Hand-Held Dynamometry For Measuring Force Production In People With Parkinson’S Disease, Matthew Boom, Elisabeth Preston, Renee Salmon, Louise Ada, Allyson Flynn

Internet Journal of Allied Health Sciences and Practice

Purpose: People with Parkinson’s disease (PD) have impaired force production, which is associated with decreased mobility and falls risk. Reliable measurement of force production is important. Design: A repeated-measures, intra- and inter-rater reliability study was undertaken. Participants: 24 people with mild PD were measured by one or two raters. Outcome measures: Isometric force of the major upper and lower limb muscle groups was measured using hand-held dynamometry. Results: Fourteen participants were measured by the same rater on two occasions to determine intra-rater reliability. Ten participants were measured on two occasions by two different raters to determine …

Infiltrating Cd8+ T Cells Exacerbate Alzheimer’S Disease Pathology In A 3d Human Neuroimmune Axis Model, Jefin Jose, Devam Purohit

VCU's Medical Journal Club: The Work of Future Health Professionals

In this study, Jorfi et al. employed a neuroimmune axis model containing neurons, astrocytes, and microglia to examine the role of immune cells in Alzheimer's disease. Jorfi et al. found that T cells selectively infiltrated the BRAIN compartment of the neuroimmune axis model as compared to B cells and monocytes. Jorfi et al. further found that CD8+ T cells demonstrated heightened cytotoxicity in the Alzheimer's disease brain, illuminating the role of immune cells in neurodegeneration. Upon further examination, the CXCR3-CXCL10 signaling pathway was found to have an important role in inflammation.

A Genome-Wide In Vivo Crispr Screen Identifies Essential Regulators Of T Cell Migration To The Cns In A Multiple Sclerosis Model, Jefin Jose

VCU's Medical Journal Club: The Work of Future Health Professionals

Kendirli et al. (2023) used a CRISPR screen to determine the proteins involved in T cell migration into the CNS in multiple sclerosis. Overall, eighteen facilitators and five brakes to T cell infiltration into the CNS were identified. Kendirli et al. specifically identified ITGA4, FERMT3, and HSP90B1 to make up the adhesion module, CXCR3, GNAI2, and TBX21 to make up the chemotaxis module, and GRK2 and S1PR2 to make up the egress module. This study demonstrated the ability of a CRISPR screen to identify elements in a disease process and thus identify targets for future multiple sclerosis therapies.

Benefits Of Medical Thc For Neurological Disorders In The U.S., Andrew Lester, Alexandria Gartin

Theses, Dissertations and Capstones

Introduction: The introduction of THC into the medical field has allowed medical professionals to offer a new treatment option to aid in their patients treatment plan by decreasing their symptoms of side effects of other medications used for their conditions.

Methodology: This study utilized a literature review. Five databases were used to collect 116 total sources. These sources were reviewed and reduced to 33 sources that were used in the written research. Of these, 16 sources were used in the results section.

Purpose of the Study: The purpose of this research was to analyze the prescription use of …

Cauda Equina Neuroendocrine Tumor (Paraganglioma), Cameron Summers-Powell, Tricia O'Brien, Susana Ferra

East Florida Division GME Research Day 2023

No abstract available.

Guillain-Barré Syndrome: Recognizing Variations In Clinical Presentations, Andrew Wang, Komal Luthra

Gulf Coast Division GME Research Day 2023

No abstract provided.

Multiple Sclerosis In A 32-Year-Old Female With History Of Prolactinoma, Aleeza Ali, Jesse Simon, Adekunle Bamgboye

East Florida Division GME Research Day 2023

Among disorders affecting the central nervous system (CNS), excluding trauma, multiple sclerosis (MS) is the most common cause of permanent disability in young adults. This condition is characterized by IgG autoantibody-mediated destruction of oligodendrocytes in the brain and spinal cord. Although the origin of MS is not fully understood, some suggest that prolactin may be involved in the development of the disease process evidenced by the fact that it predominately affects women of childbearing age, and the diverse role of prolactin (PRL) as a peptide hormone, cytokine, and immune modulator. Here we review the case of a 32-year-old female with …

Extra-Axial Desmoplastic/Nodular Medulloblastoma, Shh-Activated In Adult: A Case Report, Gul Wymer, Fatemeh Mousavi, Jennifer Barker

East Florida Division GME Research Day 2023

Introduction: Medulloblastoma (MB) is an embryonal central nervous system (CNS) tumor located in the posterior cranial fossa. Medulloblastoma is one of the most common malignant pediatric brain tumors, accounts for 25% of all pediatric intracranial tumors, but rare in adults; and constitute 0.4%-1% of adult primary brain tumors. The incidence of medulloblastomas in adults is approximately 0.5 per million per year and decreases with age with male predominance. Medulloblastomas classically appear as well-defined masses in the cerebellum that enhance both computed tomography (CT) of the head and brain magnetic resonance imaging (MRI) with gadolinium contrast. The clinical symptoms and signs …

Left Atrial Enlargement In Primary Cryptogenic Strokes Without Atrial Fibrillation, Hytham Rashid, Jonathan Brown, Negar Niknam, Tusharkumar Pansuriya, Sivatej Sarva, Syed Danyal Raza

Gulf Coast Division GME Research Day 2023

No abstract provided.

Tea, Toast, And Strokes, Mark Azmy, Jennifer Broyles, Sean Quinonez, Admir Seferovic

West Florida Division GME Research Day 2023

No abstract provided.

Regional Fa Values And Loss Of Consciousness In Mild Traumatic Brain Injury, Alexander Asturias, Thomas Knoblauch, Alan Rodriguez, Cheryl Vanier, Caroline Le Tohic, Brandon Barrett, Michael Eisenberg, Rachelle Gibbert, Lennon Zimmerman, Shaunaq Parikh, Anh Nguyen, Sherwin Azad, Leo Germin, Enrico Fazzini, Travis Snyder

Far West Division GME Research Day 2023

No abstract provided.

A Case Of Thrombolytic Associated Ich In The Setting Of Infective Endocarditis, Priscilla Yan, Lama Al-Khoury

Far West Division GME Research Day 2023

No abstract provided.

Challenges Of Cerebral Hyperperfusion Syndrome: A Clinical Case Report, Ruth Williams, Ranga Rathakrishnan

East Florida Division GME Research Day 2023

Introduction: Cerebral Hyperperfusion syndrome (CHS) is a clinical syndrome of hypertension, headache, neurological deficits, with or without seizures, following a revascularization procedure. It is characterized by an excessive and sudden increase in cerebral blood flow. The mechanism is largely not understood but theories involve impaired cerebrovascular autoregulation (thought to be mitigated by collateral circulation), free radical damage, and baroreceptor reflex damage, possible from the procedure itself1 . Common presentations include severe ipsilateral headache to the side of the lesion with typical onset within 12 hours to 6 days, but can occur up to one month, after carotid revascularization processes2 . …

Unique Presentation Of Cerebritis: A Case Report, Wajahat Dawood, Kevin Jiang, Bryan Kharbanda

Gulf Coast Division GME Research Day 2023

No abstract provided.

A Rare Case Of Pres In A Patient On Bevacizumab-Awwb Chemotherapy, Alexander Rhodes, John Punla, Aswin Srinivasan, An Dao, Syed Raza

Gulf Coast Division GME Research Day 2023

No abstract provided.

The Treatment Of Rem Sleep Disorder Using Neuromodulation: A Literature Review, Aaron Marbin, Shane Ragland, Orestes Hadjistamoulou, Clara Alvarez Villalba, Samuel Neuhut

East Florida Division GME Research Day 2023

No abstract available.

The Treatment Of Depression In Alzheimer's Disease Using Neuromodulation: A Literature Review, Aaron Marbn, Shane Ragland, Thalia Adrian, Clara Alvarez Villalba, Samuel Neuhut

East Florida Division GME Research Day 2023

Please see supplemental content for full abstract with references.

INTRODUCTION: An estimated 44 million individuals live with Alzheimer's Dementia globally, a number expected to triple by 2050.1 Depression is a commonly observed comorbidity in individuals with Alzheimer's disease. Traditional antidepressant medications often pose challenges due to their side effects and limited efficacy in this population. As a result, alternative therapeutic approaches are being explored, with Transcranial Magnetic Stimulation (TMS) emerging as a promising intervention for treating depression in Alzheimer's patients. TMS is a non-invasive brain stimulation technique that utilizes magnetic fields to modulate neural activity in targeted brain regions …

Moyamoya Disease Presenting As An Intracranial Hemorrhage In A 69-Year-Old Male, Jorge Rodriguez, Brittany Chandani, David G. Gelikman, Ankur Garg, Olga Karasik

North Florida Division GME Research Day 2023

No abstract provided.

Posterior Reversible Encephalopathy Syndrome: A Case Of Elevated Blood Pressure And New Seizure Onset Post Nephrectomy, Jessica Bautista, Kyle Adkins, Lisa Gieseke

Continental, MidAmerica, & Mountain Divisions GME Research Day 2023

No abstract provided.

Wernicke Encephalopathy: Interplay Between Magnesium And Thiamine, Richard Allen Gorman Ii, Mark Stine, Rafael Vaello, Patrick J. Stocker

West Florida Division GME Research Day 2023

No abstract provided.