Nervous System Diseases Commons^™

The Role Of Micrornas In The Pathophysiology Of Neonatal Hypoxic-Ischemic Brain Injury, Eric S. Peeples

Theses & Dissertations

Neonatal hypoxic-ischemic brain injury (HIBI) is a devastating injury resulting from impaired blood flow and oxygen delivery to the brain at or around the time of birth. The subsequent metabolic failure and cellular injury in the brain can be partially attenuated by rapid initiation of therapeutic hypothermia, but even with prompt induction of hypothermia, more than one in four survivors suffer from major developmental disabilities – an indication of the critical need for more effective therapies. MicroRNAs (miRNA) may be able to act as therapeutic targets in neonatal HIBI; however, very little is known about the endogenous expression of miRNAs …

Developing Deep-Learning Methods For Diagnosis And Prognosis Of Pediatric Progressive Diseases Using Modern Imaging Techniques, Mahdieh Shabanian

Theses and Dissertations (ETD)

Purpose and Rationale. Central nervous system manifestations form a significant burden of disease in young children. There have been efforts to correlate the neurological disease state in tuberous sclerosis complex (TSC) neurological disease state with imaging findings is a standard part of patient care. However, such analysis of neuroimaging is time- and labor-intensive. Automated approaches to these tasks are needed to improve speed, accuracy, and availability. Automated medical image analysis tools based on 3D/2D deep learning algorithms can help improve the quality and consistency of image diagnosis and interpretation for cognitive disorders in infants. We propose to automate neuroimaging analysis …

Deciphering The Role Of Hsp110 Chaperones In Diseases Of Protein Misfolding, Unekwu M. Yakubu

Dissertations and Theses (Open Access)

Molecular chaperones maintain protein homeostasis (proteostasis) by ensuring the proper folding of polypeptides. Loss of proteostasis has been linked to the onset of numerous neurodegenerative disorders including Alzheimer’s, Parkinson’s, and Huntington’s disease. Hsp110 is a member of the Hsp70 class of molecular chaperones and acts as a nucleotide exchange factor (NEF) for Hsp70, the preeminent Hsp70-family protein folding chaperone. Hsp110 promotes rapid cycling of ADP for ATP, allowing Hsp70 to properly fold nascent or unfolded polypeptides in iterative cycles. In addition to its NEF activity, Hsp110 possesses an Hsp70-like substrate binding domain (SBD) whose biological roles are undefined. Previous work …

Functional Seizures: The Patient’S Perspective Of A Diagnostic And Treatment Odyssey, Heather J. Andrini, Sydni L. Au Hoy, Ashley M. Okhovat, Juliana Lockman, Gregory R. Goldsmith

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Functional seizures can be challenging to properly diagnose, often leading to delays in treatment. The etiology of functional seizures is multifactorial, with psychological factors identified in many, but not all cases. Misdiagnosis may occur due to clinical features mimicking other medical conditions. Once a correct diagnosis is reached, delivery of definitive, evidence-based treatment may be challenging due to limited availability of specialized resources. Research shows psychological education and cognitive behavioral therapy (CBT) have the greatest efficacy. However, individual differences, including acceptance of the diagnosis, therapeutic alliance, duration of symptoms, comorbidities, and access to care may influence outcomes. There is a …

Median And Ulnar Nerve Injuries In Cyclists: A Narrative Review, Dinesh C. Sirisena, Shauna H-S Sim, Ivan Lim, Vaikunthan Rajaratnam

BioMedicine

Cycling is popular internationally as a mode of transport and sport. Cyclists often report sensory and motor changes in the hands during rides. In the past, assessment of these symptoms was based on clinical history, physical examination and neurophysiology. The aim of this narrative review was to evaluate existing publications and determine if there are areas for further improvement in the clinical setting. Methods: Searches were undertaken in accordance with the PRISMA guidelines using four online databases: PUBMED, OVID, CINAHL and WEB OF SCIENCE. Articles were evaluated using adapted versions of guidelines for case and cohort studies. Results: 2630 articles …

Intracranial Mesenchymal Tumors With Fet-Creb Fusion Are Composed Of At Least Two Epigenetic Subgroups Distinct From Meningioma And Extracranial Sarcomas, Emily A. Sloan, Rohit Gupta, Christian Koelsche, Jason Chiang, Javier E. Villanueva-Meyer, Sanda Alexandrescu, Jennifer E. Eschbacher, Wesley Wang, Manuela Mafra, Nasir Ud Din

Department of Pathology and Laboratory Medicine

Intracranial mesenchymal tumor, FET-CREB fusion-positive' occurs primarily in children and young adults and has previously been termed intracranial angiomatoid fibrous histiocytoma (AFH) or intracranial myxoid mesenchymal tumor (IMMT). Here we performed genome-wide DNA methylation array profiling of 20 primary intracranial mesenchymal tumors with FET-CREB fusion to further study their ontology. These tumors resolved into two distinct epigenetic subgroups that were both divergent from all other analyzed intracranial neoplasms and soft tissue sarcomas, including meningioma, clear cell sarcoma of soft tissue (CCS), and AFH of extracranial soft tissue. The first subgroup (Group A, 16 tumors) clustered nearest to but independent of …

Daily Phonatory Activity Of Individuals With Parkinson’S Disease, Jeff Searl, Angela M. Dietsch

Department of Special Education and Communication Disorders: Faculty Publications

Purpose

This study evaluated the amount of phonatory activity of Persons with Parkinson disease (PwPD) compared to adults without Parkinson’s disease measured over 3 days. The relationship between the amount of phonatory activity and Voice Handicap Index (VHI) total score was assessed as were differences in voicing activity across 3 days of data collection.

Methods

Fifteen PwPD receiving dopaminergic medication and fifteen age and sex matched adults without Parkinson’s disease completed the VHI and then wore a VocaLog vocal monitor (VM) for 3 consecutive days. From the VM data, the number of 1-second windows with dB sound pressure level > 0 …

The Concentration Of Brain Homogenates With The Amicon Ultra Centrifugal Filters, Joshua Yang, Rachita K. Sumbria

Pharmacy Faculty Articles and Research

Accurately measuring the brain concentration of a neurotherapeutic is critical in determining its pharmacokinetic profile in vivo. Biologics are potential therapeutics for neurologic diseases and biologics fused to an antibody targeting a transcytosis receptor at the Blood-Brain Barrier, designated as antibody-biologic fusion proteins, are Blood-Brain Barrier penetrating neurotherapeutics. The use of sandwich immunosorbent assays to measure concentrations of antibody-biologic fusion proteins in brain homogenates has become increasingly popular. The raw brain homogenate contains many proteins and other macromolecules that can cause a matrix effect, potentially interfering with the limit of detection of such assays and reduce the overall sample …

A Proud Huntington’S Disease Gene Carrier’S Message To His 'Miracle Baby' Daughter On Her Senior Year In College, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Endoxifen: A New Hope For Bipolar Disorder, Muneeba Amin, Alviya Shafique, Muhammad Yusuf Hafiz

Department of Psychiatry

No abstract provided.

Kinematic Assessment Of Turning And Walking Tasks Among Stroke Survivors By Employing Wearable Sensors And Pressure Platform, Masoud Abdollahi, Pranav Madhav Kuber, Christopher Hoang, Michael Shiraishi, Rahul Soangra, Ehsan Rashedi

Physical Therapy Faculty Articles and Research

Stroke survivors often experience reduced movement capabilities due to alterations in their neuromusculoskeletal systems. Modern sensor technologies and motion analyses can facilitate the determination of these changes. Our work aims to assess the potential of using wearable motion sensors to analyze the movement of stroke survivors and identifying the affected functions. We recruited 10 participants (5 stroke survivors, 5 healthy individuals) and conducted a controlled laboratory evaluation for two of the most common daily activities: turning and walking. Among the extracted kinematic parameters, range of trunk and sacrum lateral bending in turning were significantly larger in stroke survivors (p-value<0.02). However, no statistical difference in mean angular velocity and range of motion for trunk/sacrum/shank flexion-extension were obtained in the turning task. Our results also indicated that during walking, while there was no difference in swing time, double support portion of gait among the stroke group was significantly larger (p-value = 0.001). Outcomes of this investigation may help in designing new rehabilitation programs for stroke and other neurological disorders and/or in improving the efficacy of such programs.Clinical Relevance— This study may provide a better insight on the detailed functional differences between stroke survivors and healthy individuals which in turn could be used to develop a more efficient rehabilitation program for stroke community.

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

Introduction

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 the future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it is important to assess the cost-benefit ratio to determine whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis …

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.

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 …