Nervous System Diseases Commons^™

Utility And Yield Of Genetic Testing Leading To A Definitive Neuromuscular Or Neuropathic Diagnosis At A Rural Outpatient Neurology Clinic Affiliated With A University Health Center In West Virginia Over 4 Years., Holly Farkosh, Dominika Lozowska

Marshall Journal of Medicine

Background

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate about future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it becomes a cost benefit ratio assessment whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis through genetic testing …

Stroke Care In Pakistan, Anjum Farooq, Narayanaswamy Venketasubramanian, Mohammad Wasay

Section of Neurology

Increasing incidence of stroke and lack of infrastructure in both urban and rural areas needs immediate attention in Pakistan. There is a high proportion of young stroke with poor stroke outcomes. Acute stroke care is scarce in Pakistan due to the small number of neurologists (1 neurologist per 1 million population), few stroke units, and limited availability of alteplase (recombinant tissue plasminogen activator) in the country.

The Potential Role Of Atn-161 As An Integrin Α5Β1 Inhibitor In Preventing Commonviral Infections, Peter Issa, H Wang, Ko Mcdonald, Be Ouvrier, Gj Bix

Medical Research Day

Integrins are transmembrane proteins which mediate many cellular signaling processes such as immunological function, extracellular matrix composition, apoptosis, and cell adhesion. In addition to these features, integrins have been implicated in viral infection. Integrin alpha5beta1, which has an arginine-glycine-aspartic acid (RGD) binding motif, has been shown to play a role in the pathogenesis of many viruses including porcine hemagglutinating encephalomyelitis virus (PHEV), human immunodeficiency virus (HIV-1), and severe acute respiratory syndrome- coronavirus 2 (SARS-CoV-2). However, a concise review of the role of integrin alpha5beta1 with regards to viruses and its potential as an antiviral therapeutic, especially with regards to SARS- …

Tropism Of Novel Aav Capsid Variants In The Inner Ear, Leigh C. Hickham, David Odenheimer, Grant Rauterkus, Sanford L. Boye, Shannon E. Boye, Jennifer J. Lentz

Medical Research Day

Background: Usher syndrome (Usher) is the leading genetic cause of combined deaf-blindness. Of the three clinical types, type 1 (USH1) is the most severe with congenital sensorineural hearing impairment and vestibular dysfunction, and adolescent onset of retinitis pigmentosa. While the genetics of Usher is well understood, the treatment options for these patients are limited. To fill this gap, we created a mouse model of Type 1C Usher (USH1C) that contains the splice site mutation (USH1C c.216G>A) responsible for USH1C in patients. USH1C mice have hearing, balance, and visual dysfunction similar to patients. Additionally, the expression of harmonin protein, encoded …

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Neuroimaging Referral For Reassurance In Evaluation Of Headache With Low-Risk Features, Omar E. Fernandez

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Howard L, Wessely S, Leese M, et al. Are investigations anxiolytic or anxiogenic? A randomised controlled trial of neuroimaging to provide reassurance in chronic daily headache. J Neurol Neurosurg Psychiatry. 2005;76(11):1558-1564. https://doi.org/10.1136/jnnp.2004.057851

for a patient with daily headache.

Awake Craniotomy For Resection Of Intracranial Meningioma: First Case Series From A Low- And Middle-Income Country, Saqib Kamran Bakhshi, Noyan Jawed, Faraz Shafiq, Ather Enam

Section of Neurosurgery

Introduction: Awake craniotomy (AC) has emerged as a better modality for resection of intra-axial brain tumors. The advantages are not just related to the preservation of neurological function, but also include early recovery, short hospital stay and possibly lower costs. However, data on AC for meningioma resection is deficient, likely because of concerns related to intra-operative pain and blood loss.
Methods: All patients who underwent AC, using awake through-out technique for resection of meningioma, during the last five years, were included in the study. Non-probability consecutive sampling technique was employed. Variables for demographics, and details of diagnosis and surgical procedure …

Teachers’ Views On Preparation For Employment Of Young Autistic People, Biranavan Thavapalan, Emanuele Maria Merlo

Journal of Mind and Medical Sciences

Background. Contemporary literature indicates that there is significant support and assistance provided by schools for young autistic people, which has had a positive impact on the accessibility of jobs. Nevertheless, the employment rate of autistic people is unacceptably low in the UK. The current study investigated teachers’ views on the preparation for employment of young autistic people in the UK. Methods. Interviews were conducted with individuals from the educational field and thematic analysis was used to explore the teachers’ views regarding the factors that have an impact on the preparation for employment of young autistic people. Results. …

Mental Health Or Cardiac Health. Is There A Reason To Choose? Cardiac Arrhythmias Induced By Atomoxetine And Methylphenidate, Gabriel Cismaru, Viorel Lupu

Journal of Mind and Medical Sciences

The current treatment of Attention Deficit Disorder and Attention Deficit with Hyperactivity consists mainly in the administration of Straterra (Atomoxetine) Concerta and Ritalin (Methylphenidate). The FDA warned that the products might increase systolic, diastolic blood pressure, and lead to ventricular arrhythmias. Arrhythmic events and sudden cardiac death were described in adults with preexistent heart disease. However, studies on children have failed to demonstrate a clear association between the arrhythmic events and these drugs, as demonstrated in adults. What should the attitude of the pediatric psychiatrist be towards the administration of these products? What examination should be made by the psychiatrist …

Neuropsychological Symptoms Related To The Covid-19 Pandemic Experienced By The General Population And Particularly By The Healthcare Personnel, Alina Zorina Stroe, Alexandru Floris Stuparu, Silviu Docu Axelerad, Daniel Docu Axelerad, Aurelia Moraru

Journal of Mind and Medical Sciences

Undoubtedly, the outbreak of COVID-19 still represents an overanxious event for both society and population. The fear of getting infected is ubiquitous in the time of the pandemic. The population presented worrying thoughts related to the fact that the health care system was not able to provide enough services during the COVID-19 pandemic. The number of the hospital beds and ventilators was insufficient in order to ensure enough care, considering the increased number of COVID-19 cases that were admitted to the hospitals. Furthermore, people were fearful about the possibility of the global economy becoming decimated. The fright and also the …

Self-Paced Treadmills Do Not Allow For Valid Observation Of Linear And Nonlinear Gait Variability Outcomes In Patients With Parkinson’S Disease, Maryam Rohafza, Rahul Soangra, Jo Armour Smith, Niklas König Ignasiak

Physical Therapy Faculty Articles and Research

Background

Due to the imposed constant belt speed, motorized treadmills are known to affect linear and nonlinear gait variability outcomes. This is particularly true of patients with Parkinson’s Disease where the treadmill can act as an external pacemaker. Self-paced treadmills update the belt speed in response to the subject's walking speed and might, therefore, be a useful tool for measurement of gait variability in this patient population. This study aimed to compare gait variability during walking at self-paced and constant treadmill speeds with overground walking in individuals with PD and individuals with unimpaired gait.

Methods

Thirteen patients with Parkinson’s Disease …

Multiple Sclerosis And Its Symptom Management Through Supplementation And Dietary Planning, Lindsey J. Davis

Selected Honors Theses

Multiple Sclerosis (MS) is an autoimmune, neuroinflammatory disorder that is characterized by the breakdown of myelinated axons in the Central and Peripheral Nervous Systems. It is a potentially debilitating autoimmune disease that affects almost 1 million people in the United States, and nearly 2.5 million people worldwide. The precise etiology of MS is still being researched, but much progress has been made towards understanding the molecular mechanisms and impactful ways to treat this disease. While there is still no cure, new treatment plans are constantly being orchestrated in effort to alleviate the burden that MS carries. Combination treatment plans have …

Effects Of Hormone Replacement Therapy (Hrt) On Gene Expression In The Amyloid Processing Pathway Of Ovariectomized Rhesus Macaque Females Under An Obesogenic Diet, Megan Ball

University Honors Theses

Estrogens rapidly decline at the onset of menopause, putting women at higher risk of osteoporosis, obesity, and neurodegenerative diseases, including Alzheimer’s disease (AD). Estradiol hormone therapies (HT) have been suggested to limit these negative effects on women, with controversial findings as to their effectiveness. A study at OHSU recently found differentially expressed genes (DEGs) using RNAseq between ovariectomized/hysterectomized (OvH) old (range = 19.4–23.2 years) female rhesus macaques on HT and those on a placebo on chronic western style diet (WSD). The DEGs identified in the amyloid processing pathway of the amygdala were selected for validation using RT-qPCR because β-amyloid peptide …

Terrorism In Your Brain: The Battles Of Multiple Sclerosis (Ms), Paul W. Asper

Student Publications

This paper is a review of Multiple Sclerosis (MS) looking at the phenotypes, epidemiology, etiology, pathology, and immunology. Additionally, this paper examines the clinical presentations and criteria for diagnosis along with the treatment and management of symptoms.

Amyotrophic Lateral Sclerosis: The Disease Of The Peripheral Nervous System, Aisling G. Lavelle

Student Publications

A literary review of Amyotrophic Lateral Sclerosis summarizing the most up to date information about ALS. The most recent prevalence and incidence reports globally and specifically the USA are reported. Characteristics of the phenotypes are described and a break down of symptoms and effective diagnosis measures are reported and explained. Genetic and environmental factors are summarized and broken down in layman's terms. Current research and treatments being performed for ALS patients and their future impacts are described.

Prion Disease: A Challenging Diagnosis, Jeffrey F. Spindel, Anita M. Fletcher, William T. Smith, Rodrigo Cavallazzi

The University of Louisville Journal of Respiratory Infections

Introduction: Human prion diseases are a group of rare encephalopathies resulting in rapidly progressive dementia and ultimately death. While there are no effective treatments for any form of prion disease, prompt and efficient diagnosis is essential to prevent the spread of the self-propagating protein, which may occur through aerosols, and avoid unnecessary or invasive testing. Diagnosis relies largely on physical examination, with many nonspecific findings, and laboratory testing, which has wide ranges of reported accuracy and high false positive rates with diseases such as Alzheimer’s dementia.

Methods: Patients who underwent testing for prion disease were retrospectively identified from the electronic …

Dysfunctional Tissue Correlates Of Unrelated Naming Errors In Acute Left Hemisphere Stroke, Erin L. Meier, Shannon M. Sheppard, Emily B. Goldberg, Catherine R. Kelly, Alexandra Walker, Delaney M. Ubellacker, Emilia Vitti, Kristina Ruch, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Most naming error lesion-symptom mapping (LSM) studies have focused on semantic and/or phonological errors. Anomic individuals also produce unrelated word errors, which may be linked to semantic or modality-independent lexical deficits. To investigate the neural underpinnings of rarely-studied unrelated errors, we conducted LSM analyses in 100 individuals hospitalised with a left hemisphere stroke who completed imaging protocols and language assessments. We used least absolute shrinkage and selection operator regression to capture relationships between naming errors and dysfunctional brain tissue metrics (regional damage or hypoperfusion in vascular territories) in two groups: participants with and without impaired single-word auditory comprehension. Hypoperfusion—particularly within …

Does Subthalamic Deep Brain Stimulation Impact Asymmetry And Dyscoordination Of Gait In Parkinson’S Disease?, Deepak K. Ravi, Christian R. Baumann, Elena Bernasconi, Michelle Gwerder, Niklas K. Ignasiak, Mechtild Uhl, Lennart Stieglitz, William R. Taylor, Navrag B. Singh

Physical Therapy Faculty Articles and Research

Background. Subthalamic deep brain stimulation (STN-DBS) is an effective treatment for selected Parkinson’s disease (PD) patients. Gait characteristics are often altered after surgery, but quantitative therapeutic effects are poorly described. Objective. The goal of this study was to systematically investigate modifications in asymmetry and dyscoordination of gait 6 months postoperatively in patients with PD and compare the outcomes with preoperative baseline and to asymptomatic controls without PD. Methods. A convenience sample of thirty-two patients with PD (19 with postural instability and gait disorder (PIGD) type and 13 with tremor dominant disease) and 51 asymptomatic controls participated. Parkinson patients …

Bidding Farewell To My ‘Mind Coach,’ A Major Ally In My Fight To Avoid Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Scoping Review: The Empowerment Of Alzheimer’S Disease Caregivers With Mhealth Applications, Eunhee Kim, Andrius Baskys, Anandi V. Law, Moom R. Roosan, Yan Li, Don Roosan

Pharmacy Faculty Articles and Research

Alzheimer’s Disease (AD) is one of the most prevalent neurodegenerative chronic diseases. As it progresses, patients become increasingly dependent, and their caregivers are burdened with the increasing demand for managing their care. Mobile health (mHealth) technology, such as smartphone applications, can support the need of these caregivers. This paper examines the published academic literature of mHealth applications that support the caregivers of AD patients. Following the PRISMA for scoping reviews, we searched published literature in five electronic databases between January 2014 and January 2021. Twelve articles were included in the final review. Six themes emerged based on the functionalities provided …