Neurology Commons^™

Sans-Cnn: An Automated Machine Learning Technique For Spaceflight Associated Neuro-Ocular Syndrome With Astronaut Imaging Data, Sharif Amit Kamran, Khondker Fariha Hossain, Joshua Ong, Nasif Zaman, Ethan Waisberg, Phani Paladugu, Andrew Lee, Alireza Tavakkoli

SKMC Student Presentations and Publications

Spaceflight associated neuro-ocular syndrome (SANS) is one of the largest physiologic barriers to spaceflight and requires evaluation and mitigation for future planetary missions. As the spaceflight environment is a clinically limited environment, the purpose of this research is to provide automated, early detection and prognosis of SANS with a machine learning model trained and validated on astronaut SANS optical coherence tomography (OCT) images. In this study, we present a lightweight convolutional neural network (CNN) incorporating an EfficientNet encoder for detecting SANS from OCT images titled "SANS-CNN." We used 6303 OCT B-scan images for training/validation (80%/20% split) and 945 for testing …

Piriformis Syndrome With A Variant Presentation, Roberto Chuapoco, Ryan E. Linford

Annual Research Symposium

Piriformis syndrome has long been a diagnostic quandary due to its tendency to present as other nerve-related conditions. Piriformis syndrome is commonly caused by entrapment of the sciatic nerve as it travels through the greater sciatic foramen due to hypertrophy of the piriformis muscle. However, its constellation of symptoms, including radiating pain down the thigh, can easily be mistaken for lumbosacral radiculopathy. This case report aims to address the misdiagnosis of piriformis syndrome which has prolonged pain for many patients and increased the cost of medical care. It demonstrates a 76-year-old female with a confounding presentation of piriformis syndrome: buttock …

Effects Of Metformin On Glucose Metabolism And Mitochondrial Function In Patients With Obstructive Sleep Apnea: A Pilot Randomized Trial, Elizabeth R.M. Zunica, Elizabeth C. Heintz, Wagner S. Dantas, R. Caitlin Hebert, Ma Kayla Tanksley, Robbie A. Beyl, Edward C. Mader, John P. Kirwan, Christopher L. Axelrod, Prachi Singh

School of Medicine Faculty Publications

Obstructive sleep apnea (OSA) is associated with increased risk for diabetes, and standard treatment with positive airway pressure (PAP) device shows inconsistent effects on glucose metabolism. Metformin is known to treat and prevent diabetes, but its effects on skeletal muscle mitochondrial function are not completely understood. Here, we evaluate the effects of metformin on glucose metabolism and skeletal muscle mitochondrial function in patients with OSA. Sixteen adults with obesity (50.9 ± 6.7 years, BMI: 36.5 ± 2.9 kg/m2) and moderate-to-severe OSA were provided with PAP treatment and randomized to 3 months of placebo (n = 8) or metformin (n = …

Emerging Stroke Risk Factors: A Focus On Infectious And Environmental Determinants, Sajid Hameed, Nurose Karim, Mohammad Wasay, Narayanaswamy Venketasubramanian

Section of Neurology

This review focuses on emerging risk factors for stroke, including air pollution and climate change, gut microbiota, high altitude, and systemic infection. Up to 14% of all stroke-associated mortality is attributed to air pollution and is more pronounced in developing countries. Fine particulate matter and other air pollutants contribute to an increased stroke risk, and this risk appears to increase with higher levels and duration of exposure. Short term air pollution exposure has also been reported to increase the stroke risk. The gut microbiota is a complex ecosystem of bacteria and other microorganisms that reside in the digestive system and …

Digital Clock Drawing As An Alzheimer's Disease Susceptibility Biomarker: Associations With Genetic Risk Score And Apoe In Older Adults, L I Thompson, M Cummings, S Emrani, David J. Libon, A Ang, C Karjadi, R Au, C Liu

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

BACKGROUND: Alzheimer's disease (AD) is the leading cause of dementia in older adults, but most people are not diagnosed until significant neuronal loss has likely occurred along with a decline in cognition. Non-invasive and cost-effective digital biomarkers for AD have the potential to improve early detection.

OBJECTIVE: We examined the validity of DCTclockTM (a digitized clock drawing task) as an AD susceptibility biomarker.

DESIGN: We used two primary independent variables, Apolipoprotein E (APOE) ε4 allele carrier status and polygenic risk score (PRS). We examined APOE and PRS associations with DCTclockTM composite scores as dependent measures.

SETTING: We used existing data …

Cytomegalovirus And Varicella Zoster Virus Coinfection-Associated Central Hypoventilation Syndrome (Ondine's Curse), Marine Isakadze, Benjamin Zwain, Alan J. Velander, Jesus Lovera

School of Medicine Faculty Publications

Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the …

From Covid-19 To Long Covid; The Forms Of The Neurological Manifestations, Sana Ahuja, Sufian Zaheer

Journal of Mind and Medical Sciences

Ever since the SARS-CoV-2 infection was declared a global pandemic in 2020, numerous multisystemic manifestations have been discovered. The COVID-19 is known to cause a wide spectrum of neurological symptoms like fatigue, headache, brain fog, stroke, smell and taste disorders, encephalopathy and neurodegenerative disorders. The neurological manifestations are more prevalent in the post-COVID syndrome or long COVID. The National Institute for Health and Care Excellence and WHO defined Ongoing Symptomatic COVID as 4-12 weeks post infection and post COVID-19 syndrome as persistence of symptoms beyond 12 weeks. So far there are limited data available regarding the pathophysiology of neurological symptoms …

Ciprofloxacin-Induced Peripheral Neuropathy: A Case Report, Alexander Refaeian, Eric L. Vest, Michael Schmidt, Jorge D. Guerra, Mohd N. Refaei, Michael Refaeian, Ryan A. Floresca, Manouchehr Refaeian

HCA Healthcare Journal of Medicine

Introduction

Fluoroquinolones, a class of antibiotics, are commonly employed in the treatment of a wide array of bacterial infections. Recognized for their effectiveness against a broad spectrum of pathogens, fluoroquinolones have played a pivotal role in managing conditions like urinary tract infections and respiratory diseases. Nevertheless, their usage is not without contention due to their association with a variety of adverse effects, including tendon rupture and the less frequently reported issue of peripheral neuropathy.

Case Presentation

We present the case of a 42-year-old male who developed peripheral neuropathy several days after completing a 10-day course of ciprofloxacin for gastroenteritis. The …

Autosomal Dominant Optic Atrophy Plus Syndrome, Aaron W. Case Od, Lovelee E. Sayomac Od, Matthew J. Anderson Od

Optometric Clinical Practice

Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins. The resultant mitochondrial dysfunction causes a distinct set of ophthalmic findings and may progress to extra-ocular systems known as OPA plus syndrome. We present a case of late-onset OPA plus syndrome encompassing both typical ophthalmic findings and the rarer extra-ocular findings. Case Report: A 41 year-old Caucasian male presents for a second opinion regarding a previously diagnosed traumatic optic neuropathy. Examination revealed decreased best-corrected acuities, …

Neurologic Outcomes For Adult Spinal Cord Ependymomas Stratified By Tumor Location: A Retrospective Cohort Study And 2-Year Outlook, Keanu Chee, Grégoire P Chatain, Michael W Kortz, Stephanie Serva, Keshari Shrestha, Timothy H Ung, Jens-Peter Witt, Michael Finn

Department of Neurosurgery Faculty Papers

Determine whether craniocaudal spinal cord tumor location affects long-term neurologic outcomes in adults diagnosed with spinal ependymomas (SE). A retrospective cohort analysis of patients aged ≥ 18 years who underwent surgical resection for SE over a ten-year period was conducted. Tumor location was classified as cervical, thoracic, or lumbar/conus. Primary endpoints were post-operative McCormick Neurologic Scale (MNS) scores at < 3 days, 6 weeks, 1 year, and 2 years. One-way ANOVA was performed to detect significant differences in MNS scores between tumor locations. Twenty-eight patients were identified. The average age was 44.2 ± 15.4 years. Sixteen were male, and 13 were female. There were 10 cervical-predominant SEs, 13 thoracic-predominant SEs, and 5 lumbar/conus-predominant SEs. No significant differences were observed in pre-operative MNS scores between tumor locations (p = 0.73). One-way ANOVA testing demonstrated statistically significant differences in post-operative MNS scores between tumor locations at < 3 days (p = 0.03), 6 weeks (p = 0.009), and 1 year (p = 0.003); however, no significant difference was observed between post-operative MNS scores at 2 years (p = 0.13). The mean MNS score for patients with thoracic SEs were higher at all follow-up time points. Tumors arising in the thoracic SE are associated with worse post-operative neurologic outcomes in comparison to SEs arising in other spinal regions. This is likely multifactorial in etiology, owing to both anatomical differences including spinal cord volume as well as variations in tumor characteristics. No significant differences in 2-year MNS scores were observed, suggesting that patients ultimately recover from neurological insult sustained at the time of surgery.

Bisphenol-A And Phthalate Metabolism In Children With Neurodevelopmental Disorders, T Peter Stein, Margaret D Schluter, Robert A Steer, Xue Ming

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

BACKGROUND: The etiology of autism spectrum (ASD) and Attention Deficit/Hyperactivity (ADHD) disorders are multifactorial. Epidemiological studies have shown associations with environmental pollutants, such as plasticizers. This study focused on two of these compounds, the Bisphenol-A (BPA) and Diethylhexyl Phthalate (DEHP). The major pathway for BPA and DEHP excretion is via glucuronidation. Glucuronidation makes insoluble substances more water-soluble allowing for their subsequent elimination in urine.

HYPOTHESIS: Detoxification of these two plasticizers is compromised in children with ASD and ADHD. Consequently, their tissues are more exposed to these two plasticizers.

METHODS: We measured the efficiency of glucuronidation in three groups of children, …

Objectivity, Practicality, And Significance Of Practice Guidelines For The Practicing Neurologists: What We Learnt From Consensus Criteria In Cidp, Myasthenia Gravis And Inflammatory Myopathies, Marinos C. Dalakas

Department of Neurology Faculty Papers

The value of practice guidelines in the three most common autoimmune neuromuscular disorders, namely Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Myasthenia Gravis (MG) and Autoimmune Inflammatory Myopathies (AIM), has been extensively debated regarding their usefulness in clinical practice, objectivity and universal value considering that guidelines are also established regionally in certain countries. This commentary highlights common concerns on how guidelines are presently generated, pointing out: (a) non-sufficient diversity among Task-Force members to identify and address not only routine clinical and electrophysiology issues but also immunology, imaging, pathology, biomarkers, epidemiology or treatment economics; (b) Task-Force being often comprised by the same or …

Persistence To Anti-Cgrp Monoclonal Antibodies And Onabotulinumtoxina Among Patients With Migraine: A Retrospective Cohort Study, Larry Charleston, Brian Talon, Christine Sullivan, Carlton Anderson, Steven Kymes, Stephane A. Regnier, Seema Soni-Brahmbhatt, Stephanie J. Nahas

Department of Jefferson Headache Center papers and presentations

BACKGROUND: To date, real-world evidence on persistence to anti-calcitonin gene-related peptide (anti-CGRP) monoclonal antibodies (mAbs) or onabotulinumtoxinA have excluded eptinezumab. This retrospective cohort study was performed to compare treatment persistency among patients with migraine on anti-CGRP mAbs (erenumab, fremanezumab, galcanezumab, or eptinezumab) or onabotulinumtoxinA.

METHODS: This retrospective study used IQVIA PharmMetrics data. Adult patients with migraine treated with an anti-CGRP mAb or onabotulinumtoxinA who had 12 months of continuous insurance enrollment before starting treatment were included. A "most recent treatment episode" analysis was used in which the most recent episode was defined as the latest treatment period with the same …

Genetics Of Functional Seizures; A Scoping Systematic Review, Ali A. Asadi-Pooya, Mark Hallett, Nafiseh Mirzaei Damabi, Khatereh Fazelian Dehkordi

Department of Neurology Faculty Papers

Background: Evidence on the genetics of functional seizures is scarce, and the purpose of the current scoping systematic review is to examine the existing evidence and propose how to advance the field.

Methods: Web of science and MEDLINE were searched, from their initiation until May 2023. The following key words were used: functional neurological disorder(s), psychogenic neurological disorder(s), functional movement disorder(s), psychogenic movement disorder(s), functional seizures(s), psychogenic seizure(s), nonepileptic seizure(s), dissociative seizure(s), or psychogenic nonepileptic seizure(s), AND, gene, genetic(s), polymorphism, genome, epigenetics, copy number variant, copy number variation(s), whole exome sequencing, or next-generation sequencing.

Results: We identified three original studies. …

Journal Club: Glymphatic System In Neurodegenerative Diseases, Ronald G. Lott Iii, Xavier Zonna, Samuel Wlasowicz

Advances in Clinical Medical Research and Healthcare Delivery

Neurodegenerative diseases such as Alzheimer's Disease impact a multitude of individuals worldwide. The neural Glymphatic system is a relatively newly discovered cellular transport pathway within the brain that has been implicated in neurodegenerative diseases. This article serves to provide a journal club review of current literature on the Glymphatic system to raise awareness of this system and its potential for future treatment and prevention of neurodegenerative conditions.

The Correlation Between Traumatic Brain Injury And Incarceration Among Adult Males In The United States, Shadi Shams

Rowan-Virtua Research Day

The United States has one of the largest growing prison populations in the world. A large amount of social and economic resources go towards the cost and maintenance of correctional facilities each year. Additionally, the current correctional programs are insufficient in assisting inmates with getting back to society; especially those with traumatic brain injury (TBI) who often remain undiagnosed and are usually treated unfairly in the prison system instead of receiving the appropriate help. Prior scholarly work has shown that patients in the post-TBI stage are more likely to enter the judicial system. In the recent population-based cohort study, the …

A 5-Year Clinical Course Of Phenocopy Syndrome Of Behavioral Variant Frontotemporal Dementia: Case Report And Literature Review, Joseph Melillo, Keyur Patel, Christian White

Rowan-Virtua Research Day

Frontotemporal dementia is a neurocognitive disease which affects language, behavior, or executive functioning. This disease includes a spectrum of presentations which includes multiple variants. The phenocopy syndrome of behavioral variant frontotemporal dementia is one which mimics the behavioral variant of frontotemporal dementia. Patients with this condition show a decline in personality, social conduct and cognitive ability but often display no signs of neurological imaging and exhibit slow progression. This case focuses on a now 70-year-old male who has shown signs of behavioral changes with a slowly progressive clinical course and minimal findings on PET scan, but moderate changes seen on …

Case Report: Abrupt Psychosis Or Nmda Receptor Encephalitis?, Alexis Dunn, Neelesh Parikh, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

We report a case of a 46-year-old female who was initially committed to a psychiatric facility for new onset schizophrenia symptoms. She later had an extensive workup in the hospital due to leukocytosis and was believed to have NMDA Receptor Encephalitis as the cause for her new behavioral symptoms. This case report aims to educate EM (emergency medicine) physicians to keep a broad differential diagnosis on patients who present with new onset, unprovoked psychosis later in life.

Mesenchymal Stem Cell Therapy For Amyotrophic Lateral Sclerosis, Vrushank Shah, Usmaan Al-Shehab, Keyur Patel, Alexander King

Rowan-Virtua Research Day

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a fatal neurodegenerative disease affecting motor neurons in the brain and spinal cord. Progressive muscle weakness, atrophy, and spasticity characterize the condition, which eventually leads to paralysis and respiratory failure. There is currently no cure for ALS, and the standard of care is supportive, with riluzole being the only approved medication that has been shown to slightly slow disease progression (1).

However, the use of mesenchymal stem cells (MSCs) in the treatment of ALS is a new area of research in regenerative medicine. MSCs are multipotent stem cells that …

Dancing Through Parkinson’S: Investigating The Impact Of Argentine Tango On Motor, Cognitive And Psychosocial Function, Suraj Pothineni, Fazal Choudhary

Rowan-Virtua Research Day

Background: People with Parkinson’s Disease (PD) undergo progressive motor, cognitive, and psychosocial symptoms, which decrease their quality of life (QOL). Adapted tango (AT) has recently emerged as a promising approach to ameliorating functional mobility, balance, and gait seen in people with PD.

Methods: A comprehensive literature review is conducted using databases such as PubMed, SCOPUS, and Embase. A wide variety of search terms are used, including but not limited to Parkinson’s disease, exercise, dance, tango, motor, cognitive, psychosocial effects, freezing of gait, and balance.

Results: People with PD who have undergone AT have improved in certain motor, cognitive and psychosocial …

Chronic Headache Leading To The Diagnosis Of Empty Sella, Melissa Itidiare Locke, Rachel Burke

Rowan-Virtua Research Day

Headaches are one of the most common chief complaints presenting to the Emergency Department. The differential is broad. The workup is tailored to the patient’s history. Here we present the case of a young female who developed headaches over the past year. After numerous imaging studies of her brain, the most recent revealed an Empty Sella diagnosis.

Differential Degeneration Of Neurons In A Mouse Model Of Canavan Disease, Vibha Chauhan, Quy Nguyen, Jeremy Francis, Paola Leone

Rowan-Virtua Research Day

Canavan disease (CD) is an inherited leukodystrophy caused by inactivating mutations to the glial enzyme aspartoacylase (ASPA). ASPA catabolizes neuronal N-acetylaspartate (NAA) into free acetate and aspartate and loss of this function results in the chronic elevation of non-catabolized NAA and the failure of developmental myelination. Elevated NAA is thought to cause damage to myelin and myelin-producing cells (oligodendrocytes, but the viability of neurons in CD is relatively unexplored. We compare here the progressive degeneration of neurons in two regions of the CD mouse brain, the thalamus and the cortex, distinguished by differing degrees of vacuolation, and show that the …

Obstructive Hydrocephalus Caused By A Colloid Cyst Presenting As A Transient Ischemic Attack (Tia), Muhammad Nadeem

Rowan-Virtua Research Day

Colloid cysts are benign growths commonly found in the third ventricle or at the Foramen of Monroe. They are composed of epithelial lining filled with gelatinous material that contain cholesterol, mucin, old blood and ions. Most colloid cysts are asymptomatic but can present with a variety of symptoms that range from headaches, diplopia, memory problems, and vertigo. They can also present as an obstructive hydrocephalus with the classic “Wet, wacky and wobbly” triad. Rarely colloid cysts have been reported to cause sudden death. They can present to the ED with any spectrum of these symptoms.

Case Study Of Horner Syndrome Due To Internal Carotid Artery Dissection, Kajel Patel

Rowan-Virtua Research Day

Carotid artery dissection can occur either spontaneously or because of trauma. It is usually the most common cause of stroke in middle-aged patients. The symptoms can be transient or persistent and typically occur a few days after the inciting traumatic event.

Case Study: Posterior Reversible Encephalopathy Syndrome (Pres) In A Stroke Patient With Seizures, Akhmad Ernazarov, Shikhar Manchanda, Yvette Wang

Rowan-Virtua Research Day

Posterior Reversible Encephalopathy Syndrome (PRES) is a condition in which patients present with visual disturbances, headaches, seizures, and impaired consciousness. It can affect a wide variety of patients ranging from infants to elderly, but young and middle aged adults are most commonly affected; females are more likely to be affected by PRES than males. Risk factors such as hypertension, pre-eclampsia/eclampsia, renal failure, cytotoxic conditions and autoimmune conditions predispose patients to PRES. In this unique case, a 63 female patient was admitted to Jefferson Washington Hospital exhibiting classic stroke like symptoms. Patient also began seizing in the ED which was unusual …

The Impact Of Covid-19 On Post-Recovery Memory, Chelsea Mcnamara, Alison Mancuso

Rowan-Virtua Research Day

The SARS-CoV-2 virus, responsible for the covid-19 pandemic, has had profound effects on countries worldwide. As the pandemic progressed, clinical and patient data continued to mount. A subset of symptoms named “Long Covid Syndrome” persisted in patients after recovering from infection. One commonly reported but understudied symptom was a deficit in memory function. Although commonly reported, prevalence of ‘brain fog’ has yet to be characterized using patient data. Using Rowan Medicine electronic patient data, we were able to collect information on patients before and after the emergence of the coronavirus. Data was collected on reported memory-related symptoms as well as …

Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease, Anita Kaw

Dissertations & Theses (Open Access)

Heterozygous pathogenic variants in ACTA2, encoding smooth muscle α-actin (α-SMA), predispose to thoracic aortic aneurysms and dissections. De novo missense variants disrupting ACTA2 arginine 179 (p.Arg179) cause a multisystemic disease termed smooth muscle dysfunction syndrome (SMDS), which is characterized by early onset thoracic aortic disease and moyamoya disease-like (MMD) cerebrovascular disease. The MMD-like cerebrovascular disease in SMDS patients is marked by bilateral steno-occlusive lesions in the distal internal carotid arteries (ICAs) and their branches. To study the molecular mechanisms that underlie the ACTA2 p.Arg179 variants, a smooth muscle-specific Cre-lox knock-in mouse model of the heterozygous Acta2 R179C variant, termed …

Electrolyte Abnormalities And Seizure Like Activity Unmasking An Underlying Rare Genetic Disorder, Riddhiben Patel, Andrew Cushing, Amnah Andrabi, Sathish Karmegam

North Texas Research Forum 2023

Fahr's syndrome, or idiopathic basal ganglia calcification, is a rare neurological disorder that runs in families as an autosomal dominant trait. It is associated with a variety of other diseases, especially Parkinson’s disease, but the etiology remains a mystery. On imaging, it presents as abnormal calcium deposits found primarily in the basal ganglia and cerebral cortex, both of which are areas responsible for controlling movement. A 73-year old woman with a past medical history of hypertension and seizures presented to the emergency department due to altered mental status. The patient was indulged in a conversation with her daughter when all …

Kearns-Sayre Syndrome: Two Case Reports And A Review For The Primary Care Physician., Chad Richmond, Leonard Powell, Zachary D. Brittingham, Alison Mancuso

Rowan-Virtua School of Osteopathic Medicine Faculty Scholarship

Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a …

Regeneration Of Neurons In Human Brain Tissue; A Revolutionary Concept With Therapeutic Potential, Mackenzie R. Dunn

Other Undergraduate Research

There is current research to suggest that endogenous neuronal regeneration, exogenous neuronal stem cell transplantation and glial cell reprogramming could be prospective therapeutic treatments for neurodegeneration and traumatic injury. With these conditions, there is significant brain atrophy, loss of neurons and loss of synaptic connections which can have devastating effects on executive functioning, cognition, learning and memory. This review will examine these modern approaches to adult neurogenesis, and assess the viable mechanisms and future outlook of these three therapies for neurological regenerative medicine.