Nervous System Diseases Commons^™

Pituitary Adenoma Hidden By Comorbid Cataract, Len Koh Od, Megan E. Mcchesney Od, Chad E. Gosnell Od

Optometric Clinical Practice

Background: A pituitary adenoma is an abnormal growth in the pituitary gland. Pituitary adenomas are the most common cause of sellar masses accounting for approximately 10% of all intracranial neoplasms. Early visual symptom of pituitary adenoma can be hidden by comorbid cataract in elderly patients. Case Report: A 74 y.o. male presented to the eye clinic with blurry vision at all distances and has trouble with glare from lights. His best corrected visual acuity (BCVA) was 20/20^-1 OD, 20/25^-2 OS, but subjectively of poor quality. Slit lamp exam confirmed mild nuclear sclerotic cataract OU and normal fundus exam. …

Sagging Eye Syndrome--An Overlooked Diagnosis, Zachary Tlumak Od, Theresa Zerilli-Zavgorodni Od, Nancy Shenouda-Awad Od

Optometric Clinical Practice

Abstract

Background: Sagging Eye Syndrome (SES) is a relatively unknown cause for binocular distance diplopia. SES presents with an acquired comitant or non-comitant small angle esotropia and/or hypotropia commonly occurring in the elderly population. Inferior displacement of the lateral rectus secondary to age-related degeneration of orbital connective tissue and extraocular muscles appears to be responsible for the ocular misalignment. SES patients often present with new onset or progressively worsening distance diplopia, typically warranting neuroimaging. However, through understanding SES, eye care practitioners may identify these cases, avoiding unnecessary imaging studies. Case Report: A 90-year-old male presented with complaints of intermittent horizontal …

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, …

Advances In Molecular Pathology, Diagnosis, And Treatment Of Amyotrophic Lateral Sclerosis., Hristelina Ilieva, Mithila Vullaganti, Justin Kwan

Farber Institute for Neuroscience Faculty Papers

Although the past two decades have produced exciting discoveries in the genetics and pathology of amyotrophic lateral sclerosis (ALS), progress in developing an effective therapy remains slow. This review summarizes the critical discoveries and outlines the advances in disease characterization, diagnosis, imaging, and biomarkers, along with the current status of approaches to ALS care and treatment. Additional knowledge of the factors driving disease progression and heterogeneity will hopefully soon transform the care for patients with ALS into an individualized, multi-prong approach able to prevent disease progression sufficiently to allow for a dignified life with limited disability.

Tolfenamic Acid Derivatives: A New Class Of Transcriptional Modulators With Potential Therapeutic Applications For Alzheimer’S Disease And Related Disorders, Juanetta Hill, Karim E. Shalaby, Syed W. Bihaqi, Bothaina H. Alansi, Benjamin Barlock, Keykavous Parang, Richard Thompson, Khalid Ourarhni, Nasser H. Zawia

Pharmacy Faculty Articles and Research

The field of Alzheimer’s disease (AD) has witnessed recent breakthroughs in the development of disease-modifying biologics and diagnostic markers. While immunotherapeutic interventions have provided much-awaited solutions, nucleic acid-based tools represent other avenues of intervention; however, these approaches are costly and invasive, and they have serious side effects. Previously, we have shown in AD animal models that tolfenamic acid (TA) can lower the expression of AD-related genes and their products and subsequently reduce pathological burden and improve cognition. Using TA as a scaffold and the zinc finger domain of SP1 as a pharmacophore, we developed safer and more potent brain-penetrating analogs …

Blood-Based Transcriptomic Biomarkers Are Predictive Of Neurodegeneration Rather Than Alzheimer's Disease, Artur Shvetcov, Shannon Thomson, Jessica Spathos, Ann-Na Cho, Heather M Wilkins, Shea J Andrews, Fabien Delerue, Timothy A Couttas, Jasmeen Kaur Issar, Finula Isik, Simranpreet Kaur, Eleanor Drummond, Carol Dobson-Stone, Shantel L Duffy, Natasha M Rogers, Daniel Catchpoole, Wendy A Gold, Russell H Swerdlow, David A Brown, Caitlin A Finney

Faculty, Staff and Student Publications

Alzheimer's disease (AD) is a growing global health crisis affecting millions and incurring substantial economic costs. However, clinical diagnosis remains challenging, with misdiagnoses and underdiagnoses being prevalent. There is an increased focus on putative, blood-based biomarkers that may be useful for the diagnosis as well as early detection of AD. In the present study, we used an unbiased combination of machine learning and functional network analyses to identify blood gene biomarker candidates in AD. Using supervised machine learning, we also determined whether these candidates were indeed unique to AD or whether they were indicative of other neurodegenerative diseases, such as …

Normal Values Of Nerve Conduction Studies In Children Aged 7 Days To 14 Years Referred To Electrodiagnosis Clinic Of Iranian Children’S Medical Center, Masood Ghahvechi Akbari, Fazel Mahmoodpoor, Mahmoodreza Ashrafi, Elahe Rezaee, Sahar Ghorbanpour, Seyede Zahra Emami Razavi, Mohaddeseh Azadvari, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Morteza Heidari, Zahra Rezaei, Setareh Rohani, Mahmoud Mohammadi

Jefferson Institute of Molecular Medicine Papers and Presentations

Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values.

Objectives: The present study aimed to investigate the normal NCS values in children of different ages.

Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children’s Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 …

Insulin In Combination With N-Acetylcysteine Protects Hypoxia-Induced Toxicity In 661w Cells, Lili M. Guerra, Laura Valdez, Benxu Cheng, Andrew Tsin

Research Colloquium

Background: Proliferative diabetic retinopathy (PDR) is the leading cause of blindness among working-age adults. Photoreceptors are the most numerous and metabolically demanding cells in the retina thus oxygen is essential for retinal function. It has been reported that photoreceptors found in rat retina are specifically vulnerable to hypoxia. Hypoxia-induced metabolic stress leads to photoreceptor atrophy and retinopathy. Furthermore, photoreceptor cell death is known to occur mainly through apoptosis. However, the protection of hypoxia-induced-cytotoxicity in cone photoreceptor cells has not been investigated extensively. The aim of this study was to determine whether co-treatment of insulin and the N-Acetyl-L-Cysteine (NAC) (a free …

Subacute Combined Degeneration Due To Nitrous Oxide-Induced Vitamin B-12 Deficiency, Jorge Nadal, Daniela Hernandez, Brandon Cantazaro

Research Colloquium

Background: Nitrous oxide also known as “laughing gas” is a naturally occurring gas that is colorless, odorless, nonflammable, and nontoxic. It has been used as an inhalant anesthetic in the medical field for more than 150 years for dental and surgical procedures. Due to its wide availability and ability to cause euphoria, recreational use is on the rise.1 Here, I will present a case of subacute combined degeneration in the setting of nitrous oxide induced vitamin B-12 deficiency.

Case presentation: 23-year-old right-handed gentleman with no past medical history presented to the ED complaining of 1 week of bilateral lower extremity …

Developing An Assay For Easy And Rapid Detection Of Als Biomarker(S): A Hypothesis, Swati Dhasmana, Anupam Dhasmana, Meena Jaggi, Murali M. Yallapu, Subhash C. Chauhan

Research Symposium

Background: Death of motor neurons is the key pathology underlying neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS). Biomarkers are chemical changes in the biological fluids. Biomarkers serving as a diagnostic tool should be specific to the concerned disease. Biomarkers indicating disease progression should be very sensitive to demonstrate changes during the disease process as well as therapeutics development. Biomarkers proposed for ALS include poly (GP) repeats in C9orf72, neurofilaments, miRNAs, glutathione and 4HNE in CSF, SOD1/TDP43 protein, poly (GP) repeats in C9orf72, neurofilaments, T regulatory cells, CRP, chitotriosidase, creatinine, creatinine kinase, miRNAs, glutamate, albumin, uric acid, glutathione, ferritin, …

A Moyamoya Case Report On A Patient With Slurred Speech And Right-Hand Weakness, Priyasha Suri, Mery Bartl, Don Rajan, Natalia Pinto, Daniela Hernandez

Research Symposium

Background: Moyamoya angiopathy (MMA) is a cerebrovascular disease affecting about one in a million people. It is characterized by progressive stenosis of the terminal portion of the internal carotid arteries leading to cerebral hypo-perfusion which in turn induces neo-angiogenesis in the deep parts of the brain. Patients are predisposed to ischemic and hemorrhagic strokes. Diagnosis is usually made with magnetic resonance imaging (MRI) and a magnetic resonance angiogram (MRA) to evaluate the brain and its blood vessels. Symptomatic patients should undergo surgical interventions. A few studies have shown that the superficial temporal artery to middle cerebral artery bypass combined with …

Without A Rash! A Diagnostic Dilemma For Vzv Vasculopathy, Paulina Vega Enriquez, Jose E. Campo Maldonado

Research Symposium

Varicella zoster virus vasculopathy is a condition that can classically present with a dermatomal zoster rash followed by a neurological deficit. The possible neurological manifestations and disease range are extensive. Diagnosis becomes more challenging in patients whose presentation does not include a rash, often causing cognitive errors and delay in treatment. We present a case of an 85-year-old patient, who developed stroke-like symptoms, initially with normal MRI, to later progress to multiple evolving enhancing lesions seen in subsequent MRIs. This case also represents the anchoring, that we as physicians can have when a patient with risk factors for stroke or …

Alzheimer’S Disease Studies In The Tex-Mex Border: Dissecting A Complex Multifactorial Problem, Ney Alliey-Rodriguez, Rosa V. Pirela, Alvaro Diaz-Badillo, Karla Lopez Lorenzo, Noe Garza, Frank Gilliam, Eron G. Manusov, Gladys E. Maestre

Research Symposium

Purpose: Alzheimer’s Disease (ALZ) is the leading cause of dementia in the aging population, and Latinos have >3 times higher risk to develop dementia than the overall US population. Although several studies have examined for possible causes of this increased risk, lack of comprehensive information plus a reduced number of Latino samples available in each study have hindered the answers.

Description: The University of Texas Rio Grande Valley has joined two large studies looking for multiple biomarkers associated with ALZ: The South Texas Alzheimer’s Center Clinical Data Repository and Biobank (STAC) and the Texas Alzheimer’s Research and Care Consortium (TARCC). …

Understanding The Resources, Barriers, Facilitators And Interests About Aging And Dementia Research Of Community Members From The Rio Grande Valley, Karla Daniela Lopez Lorenzo, Rosa V. Pirela Mavarez, Gabriela Osuna, Kendra Stine, Nathalie Chacon, Noe Garza, Gladys E. Maestre

Research Symposium

Background: One of ten people aged 65 develops Alzheimer’s Disease and it is one of the sixth-leading cause of death in the United States. The Rio Grande Valley (RGV) is mostly constituted by Hispanic/Latinos (93%), a population that has a 1.5X increased risk of AD onset. Nevertheless, there are not enough resources to support people living with dementia and their care partners. This study will leverage research efforts deployed by the RGV Alzheimer’s Disease Resource Center for Minority Aging Research to understand the social representations about the resources, barriers, facilitators, and interests of the RGV community about dementia and Alzheimer’s …

A Case Report Of A Primary Cerebral Abscess Due To Nocardia Asteroides In An Immunocompetent Patient, Ileana Elita Mendez, Nicole Marie Barreto, Alan Lanurias, Luis Alberto Rosas

Research Symposium

Background: Brain abscesses caused by Nocardia are rarely reported and have high mortality. It usually affects patients who are immunocompromised and initiates as a lung infection that disseminates hematogenously, though it can also affect those immunocompetent. Cerebral nocardiosis imitates brain tumors, which can delay the initiation of the appropriate antibiotic therapy.

Case Description: We present a case of a 64-year-old immunocompetent male with multiple cerebral abscesses who presented with headaches, left-sided weakness, and ataxia. Upon imaging, multiple brain lesions were revealed. The patient underwent craniotomy and drainage of the mass. He was initially empirically treated, though cultures later grew Nocardia …

Using Cartesian Coordinate Systems To Create, Classify, And Retrieve Biomedical Time-Series: Applications To 24-Hour Ambulatory Blood Pressure Monitoring, Antonio Garcia, Gladys E. Maestre, John Blangero, Jesus D. Melgarejo, Julio Facelli

Research Symposium

Background: Ambulatory Blood Pressure Measurement (ABPM) allows physicians to monitor blood pressure variability under everyday living conditions and predicts clinical outcomes better than conventional blood-pressure measurement. ABPM can demonstrate mean arterial pressure (MAP) behavior over 24 hours relevant to clinical practice, such as nocturnal hypertension or increased blood pressure variability. We hypothesized that individuals with the same cardiovascular health status would have the same MAP signal (MAPs) waveform.

Methods: This study reutilizes a data subset from the IDACO Consortium to create 24-hour MAPs. We assigned all the MAPs to data matrix X, performed principal components analysis (PCA) to X, and …

An Ecchordosis Physaliphora, A Rare Entity, Involving The Central Nervous System: A Systematic Review Of The Literature, Rajesh K Gupta, Thejasvi A Reddy, Ashutosh Gupta, Rohan Samant, Carlos A Perez, Anam Haque

Faculty, Staff and Student Publications

Ecchordosis physaliphora (EP) is a benign notochordal remnant, which is often an incidental finding; however, it can rarely present with neurological symptoms. We performed a systematic review of the literature for cases of symptomatic EP published in PubMed, Web of Science and Embase from January 1982 to May 2023. This is the largest review to date and revealed 60 cases including ours. Headache (55%) and CSF rhinorrhea (32%) were the most frequent clinical manifestations. The majority of symptomatic EP lesions were located in the prepontine region (77%) and required surgical resection (75%). EP should be considered in patients with neurologic …

Integrated Inflammatory Signaling Landscape Response After Delivering Elovanoid Free-Fatty-Acid Precursors Leading To Experimental Stroke Neuroprotection, Madigan M. Reid, Ludmila Belayev, Larissa Khoutorova, Pranab K. Mukherjee, Andre Obenaus, Kierany Shelvin, Stacey Knowles, Sung Ha Hong, Nicolas G. Bazan

School of Graduate Studies Faculty Publications

Despite efforts to identify modulatory neuroprotective mechanisms of damaging ischemic stroke cascade signaling, a void remains on an effective potential therapeutic. The present study defines neuroprotection by very long-chain polyunsaturated fatty acid (VLC-PUFA) Elovanoid (ELV) precursors C-32:6 and C-34:6 delivered intranasally following experimental ischemic stroke. We demonstrate that these precursors improved neurological deficit, decreased T2WI lesion volume, and increased SMI-71 positive blood vessels and NeuN positive neurons, indicating blood–brain barrier (BBB) protection and neurogenesis modulated by the free fatty acids (FFAs) C-32:6 and C-34:6. Gene expression revealed increased anti-inflammatory and pro-homeostatic genes and decreases in expression of pro-inflammatory genes in …

The Endosomal Escape Vehicle Platform Enhances Delivery Of Oligonucleotides In Preclinical Models Of Neuromuscular Disorders, Xiang Li, Mahboubeh Kheirabadi, Patrick G Dougherty, Kimberli J Kamer, Xiulong Shen, Nelsa L Estrella, Suresh Peddigari, Anushree Pathak, Sara L Blake, Emmanuelle Sizensky, Carmen Del Genio, Arti B Gaur, Mohanraj Dhanabal, Mahasweta Girgenrath, Natarajan Sethuraman, Ziqing Qian

Faculty, Staff and Student Publications

Biological therapeutic agents are highly targeted and potent but limited in their ability to reach intracellular targets. These limitations often necessitate high therapeutic doses and can be associated with less-than-optimal therapeutic activity. One promising solution for therapeutic agent delivery is use of cell-penetrating peptides. Canonical cell-penetrating peptides, however, are limited by low efficiencies of cellular uptake and endosomal escape, minimal proteolytic stability, and toxicity. To overcome these limitations, we designed a family of proprietary cyclic cell-penetrating peptides that form the core of our endosomal escape vehicle technology capable of delivering therapeutic agent-conjugated cargo intracellularly. We demonstrated the therapeutic potential of …

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 …