Neurology Commons^™

Youtube User Traffic To Paired Epilepsy Education Videos In English And Spanish: Comparative Study., Luna Kimahri Varela, Stephanie Horton, Ahmed Abdelmoity, Jean-Baptist Lepichon, Mark A. Hoffman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Effectively managing epilepsy in children necessitates the active engagement of parents, a factor that is reliant on their understanding of this neurological disorder. Widely available, high-quality, patient-focused, bilingual videos describing topics important for managing epilepsy are limited. YouTube Analytics is a helpful resource for gaining insights into how users of differing backgrounds consume video content.

OBJECTIVE: This study analyzes traffic to paired educational videos of English and Spanish versions of the same content. By examining the use patterns and preferences of individuals seeking information in different languages, we gained valuable insights into how language influences the use of clinical …

Are Mildly Disabled Patients Appropriate For Spine Bundles? An Application Of The Operative Value Index, Advith Sarikonda, Ashmal Sami, D. Mitchell Self, Emily Isch, Alexander Zavitsanos, Antony A. Fuleihan, Ayra Khan, Conor Dougherty, Danyal A. Quraishi, Jack Jallo, Joshua Heller, Srinivas K. Prasad, Ashwini Sharan, James Harrop, Alex R. Vaccaro, Ahilan Sivaganesan

Department of Neurosurgery Faculty Papers

BACKGROUND: Many studies have evaluated the effect of preoperative disability status on functional outcomes following spine surgery. However, no research has compared the "value" (outcomes per dollar spent) of surgery for patients with different levels of diagnosis-specific disability.

METHODS: We retrospectively reviewed 429 patients who underwent neurosurgical anterior cervical discectomy and fusion. Time-driven activity-based costing was used to calculate total intraoperative costs. Neck Disability Index (NDI) scores were recorded at baseline and 3 months postsurgery. Patients were categorized into groups based on their preoperative NDI score. Our primary outcome was a novel Operative Value Index (OVI), defined as the percent …

Longitudinal Multi-Omics In Alpha-Synuclein Drosophila Model Discriminates Disease- From Age-Associated Pathologies In Parkinson’S Disease, Justin Moore, Timothy Wu, Justin Dhindsa, Omar El Fadel, Anh Le, Alma Perez, Bismark Amoh, Akash Tarkunde, Katy F Zhu, Matthew Avalos, Eric B Dammer, Duc M Duong, Nicholas T Seyfried, Joshua M Shulman, Ismael Al-Ramahi, Juan Botas

Duncan NRI Faculty and Staff Publications

Parkinson's disease (PD) starts decades before symptoms appear, usually in the later decades of life, when age-related changes are occurring. To identify molecular changes early in the disease course and distinguish PD pathologies from aging, we generated Drosophila expressing alpha-synuclein (αSyn) in neurons and performed longitudinal bulk transcriptomics and proteomics on brains at six time points across the lifespan and compared the data to healthy control flies as well as human post-mortem brain datasets. We found that translational and energy metabolism pathways were downregulated in αSyn flies at the earliest timepoints; comparison with the aged control flies suggests that elevated …

Long-Term Neurocognitive And Behavioral Outcomes In Survivors Of Pediatric Brain Tumors: A Systematic Review, Tori Sayers, Megan W. Szobody, Nina Mourao, Blake C. Martin, Sriya Gullapalli, Kory Punch, Tirath Patel, Murali Yallapu, Bharathi Shrikanth Gadad

Research Symposium

Background: Pediatric populations have an increased susceptibility for brain tumors and suffer from neurocognitive impairment due to the neoplasm itself, and side effect of subsequent treatments. This causes many patients to experience a subpar quality of life (QoL), affecting academic endeavors, social interaction and mental well-being. Increasing our understanding of the long-term effects associated with brain tumors and the side effects from our current treatment methodology will help us formulate better treatment protocols and improve survivors’ QoL. This review aims to investigate different long-term neurocognitive and behavioral outcomes in pediatric brain tumor survivors, as well as evaluate how various treatment …

The Effect Of Co-Morbid Chronic Illnesses On The Outcomes Of Traumatic Intracranial Hemorrhage In The Rio Grande Valley: A Retrospective Analysis, Sowmya Duddu, Julia Paz, Andrea Argenal, Sonya Bhatia, Nina Mourao, Tori Sayers, Manoj Peiris, Kelsey Baker, Bharathi S. Gadad

Research Symposium

Introduction: Intracranial hemorrhage is bleeding occurring in or around the brain. The severity can range from mild to fatal with a variety of lasting symptoms. The severity and outcome depends on a number of factors such as the location, treatment, and pre-existing patient conditions. Previous studies have been done observing comorbidities in patients, such as hypertension or diabetes, and their role in intracranial hemorrhages. The purpose of this project is to identify how pre-existing health conditions, such as diabetes, hypertension, blood disorders, and more, influence the type and severity of intracranial hemorrhages.

Methods: A retrospective analysis was conducted …

Incidence Of Myocardial Infarction And Neurodegenerative Disease Co-Occurrence In The Rio Grande Valley: A Five-Year Retrospective Analysis, Sowmya Duddu, Maria Sophia Malbas, Allison Mcadams, Julia Paz, Miguel Quintanilla, Karina Zamora, Hansapani Rodrigo, Kelsey Baker

Research Symposium

Introduction: Neurodegenerative Diseases (NDDs) are a group of disorders leading to the degeneration of neurons causing varying degrees of functional loss. NDDs lead to a loss of independence for the patients and an emotional burden for the patients’ families or caretakers. Previous studies have shown that the prevalence of neurodegenerative diseases such as Alzheimer’s Disease or Vascular Dementia is high in the Rio Grande Valley. Due to the severity of these diseases, research is currently being done to determine the factors that correlate with the development of neurodegenerative diseases and whether there is a causative effect. The purpose of …

Timing Of Neurologic Pupil Index Assessments In Comatose Patients Undergoing Target Temperature Management After Out-Of-Hospital Cardiac Arrest, Jill Carington, Cherie Fox, Teresa Wavra, Michael P Simanonok

Providence Nursing Research Conference 2023 – Present

No abstract provided.

Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott

Farber Institute for Neuroscience Faculty Papers

Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, focus solely on structural changes to the retina. In contrast, FLIO provides data that may reflect retinal fluorophore activity, some of which may indicate mitochondrial metabolism. This review builds upon the existing literature to describe the principles of FLIO and established uses in retinal diseases while introducing the potential for FLIO in neurodegenerative conditions.

Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker

Research Symposium

Introduction: Epilepsy is a seizure disorder characterized by abnormal electrical patterns in the brain that lead to changes in synchronization of neuronal firing patterns. Presentations of seizures vary, and include convulsions, changes in awareness, loss of consciousness, or unusual sensations. Approximately 3.4 million Americans suffer from epilepsy, with close to 15,000 in the Rio Grande Valley (RGV). The RGV is home to a vast Hispanic population, with 91% of its population identifying as Hispanic or Latino, according to the American Immigration Council’s research in 2019. However, literature on the prevalence, and presentation of epilepsy within the Hispanic population …

Genome-Wide Prediction Of Dominant And Recessive Neurodevelopmental Disorder-Associated Genes, Ryan S Dhindsa, Blake A Weido, Justin S Dhindsa, Arya J Shetty, Chloe F Sands, Slavé Petrovski, Dimitrios Vitsios, Anthony W Zoghbi

Duncan NRI Faculty and Staff Publications

Despite great progress, thousands of neurodevelopmental disorder (NDD) risk genes remain to be discovered. We present a computational approach that accelerates NDD risk gene identification using machine learning. First, we demonstrate that models trained solely on single-cell RNA sequencing data can robustly predict genes implicated in autism spectrum disorder (ASD), developmental and epileptic encephalopathy (DEE), and developmental delay (DD). Notably, we find differences in gene expression patterns of genes with monoallelic and bi-allelic inheritance patterns in the developing human cortex. We then integrate expression data with 300 orthogonal features, including intolerance metrics, protein-protein interaction data, and others, in a semi-supervised …

Dual Burden: Analyzing The Co-Occurrence Of Spinal Cord And Traumatic Brain Injuries In Texas, Blake C. Martin, Kevin Garcia Valdez, Daniel Salinas, Paul Bonilla, Victoria Elizondo, Anesu Karen Murambadoro, Kelsey Baker

Research Symposium

Background: An estimated 60% of people that suffer a spinal cord injury (SCI) have a co-occurring traumatic brain injury (TBI), with cervical level injuries having the greatest comorbidity. Following an accident, diagnosis of TBI may be missed as emergency responders prioritize the spinal injury. Early recognition of brain involvement in a patient with a traumatic SCI is crucial, as delayed treatment may cause irreversible neurological impairment such as deficits in concentration, memory, and learning. In this study, we analyzed the comorbidity of TBI and SCI in Texas, and the related demographics and injury characteristics. We aimed to increase awareness of …

Progressive Multifocal Leukoencephalopathy (Pml) Induced By Jc Virus: A Case Report And Review Of Clinical Implications, Hugo Zamarron, Roberto Cruz

Research Symposium

Background: Progressive multifocal leukoencephalopathy (PML) is a rare but serious demyelinating disease of the central nervous system, caused by the John Cunningham (JC) virus. While the JC virus is common in the general population, it remains dormant in healthy individuals but can reactivate in immunocompromised patients, particularly those with HIV/AIDS or undergoing immunosuppressive treatments for organ transplants or autoimmune conditions. The virus attacks oligodendrocytes, leading to demyelination and significant neurological deficits. Immunosuppressive therapies such as natalizumab, rituximab, and mycophenolate increase the risk of PML. Diagnosing PML is challenging as its symptoms—focal neurological deficits, sensory-motor issues, and visual disturbances—overlap with conditions …

The Influence Of The Covid-19 Pandemic On Spinal Cord Injury Prevalence And Cause Of Injury In Texas: A Four-Year Retrospective Analysis, Blake C. Martin, Daniel Salinas, Kelsey Baker

Research Symposium

Background: COVID-19 was the most significant medical issue since the Spanish Flu and was declared a pandemic on March 11, 2020. Current literature states that during the COVID-19 pandemic, in which about 10% of the global population was affected, there was a decrease in the frequency of trauma injuries observed in the clinic. Of note, spinal cord injury (SCI) has been suggested to show changing epidemiology from the COVID-19 pandemic. For example, a study in Scotland has suggested that the cause of SCI was significantly influenced during the pandemic, with an increase in self-harm. Such epidemiological changes may influence economic …

Wernicke-Korsakoff Syndrome: A Current Perspective, Astrid-Ines Foamkom, Maria Sophia Zaraspe Malbas, Kory D. Punch, Victor A. Bob-Yellowe, Allison J. Mcadams, Julia Paz, Karina Zamora, Kelsey Baker, Ihsan Salloum, Ney Alliey-Rodriguez

Research Symposium

Background: Wernicke-Korsakoff syndrome (WKS) is a debilitating neuropsychological condition characterized by the profound loss of thiamine (vitamin B1). The neuropsychological presentation of WKS has been increasingly refined since its discovery in the nineteenth century, leading to a more robust understanding of the condition. In general, it has been shown that WKS causes differ amongst individuals but the main causes for the condition include chronic alcoholism, immunodeficiency, genetic disorders, malnutrition, drug-induced thiamine deficiency, and hyperemesis gravidarum. However, it remains unclear how demographic, environmental, and ethnic differences may influence WKS etiology and severity. Here, we sought to conduct a systematic review of …

Children Suspected For Developmental Coordination Disorder In Hong Kong And Associated Health-Related Functioning: A Survey Study, Kathlynne F. Eguia, Sum Kwing Cheung, Kevin K.H. Chung, Catherine M. Capio

Health Sciences Faculty Publications

Children with developmental coordination disorder (DCD) have motor difficulties that interfere with their daily functions. The extent to which DCD affects children in Hong Kong has not been established. In this study, we aimed to estimate the prevalence of children suspected of DCD (sDCD) in Hong Kong and to examine the relationship between motor performance difficulties and health-related functioning. We conducted a cross-sectional survey of parents of children aged 5 to 12 years across Hong Kong (N = 656). The survey consisted of the Developmental Coordination Disorder Questionnaire (DCDQ) and short forms on global health, physical activity, positive affect, and …

Neurocognitive Gains Among Ugandan Children With Sickle Cell Anemia On Hydroxyurea: 18-Month Trial Interim Results, Shubaya Kasule Naggayi, Dennis Kalibbala, Vincent Mboizi, John M. Ssenkusu, Zhezhen Jin, Caterina Rosano, Deogratias Munube, Bill Wambaka, Ruth Namazzi, Robert Opoka

Paediatrics and Child Health, East Africa

Children with sickle cell anemia (SCA) frequently develop progressive neurocognitive impairment. We aimed to determine effects of hydroxyurea therapy on neurocognitive function in Ugandan children with SCA by comparing levels at enrollment to a planned 18-month interim assessment. Ugandan children (N=264) ages 3-9 years were enrolled from a SCA clinic and treated in a 30-month singlearm open-label trial with escalation to maximum tolerated dose (MTD). Primary outcome was the effects of hydroxyurea on cognition, attention and executive function, along with transcranial doppler ultrasound (TCD) blood flow velocity. Sibling controls (N=110) without SCA underwent neurocognitive testing in parallel to establish age-normalized …

Data Reporting Quality And Semantic Interoperability Increase With Community-Based Data Elements (Codes). Analysis Of The Open Data Commons For Spinal Cord Injury (Odc-Sci), Anushka Sheoran, Kenneth A. Fond, Lex Maliga Davis, J. R. Huie, Romana Vavrek, P. J. Axtman, Vance P. Lemmon, John L. Bixby, Ubbo Visser, John C. Gensel, Karim Fouad, Adam R. Ferguson, Jeffrey S. Grethe, Anita Bandrowski, Maryann E. Martone, Abel Torres-Espin

Neurology Faculty Publications

Data interoperability is crucial for effectively combining data for scientific inquiry. To facilitate interoperability, data standards such as a common definition of variables are often developed. The Open Data Commons for Spinal Cord Injury (odc-sci.org) has established an initial set of community-based data elements (CoDEs)—a minimal set of variables for sharing—to promote data interoperability in SCI research, aligning with FAIR (Findable, Accessible, Interoperable, and Reusable) data principles. We sought to understand the use of CoDEs by the SCI community to inform current standards adherence and future standards development. We systematically analyzed 39 public datasets in relation to 17 required CoDEs …

Dementia In A Resource-Constrained Sub-Saharan African Setting: A Comprehensive Retrospective Analysis Of Prevalence, Risk Factors, And Management At The Only Neuropsychiatric Facility In Northeastern Nigeria, Ibrahim Abdu Wakawa, Umar Baba Musami, Suleiman Hamidu Kwairanga, Placidus Nwankuba Ogualili, Mohammed Yusuf Mahmood, Muhammad Abba Fugu, Mohammed Mala Gimba, Muktar Mohammed Allamin, Zaharadeen Umar Abbas, Chinedu Momoh

Brain and Mind Institute

INTRODUCTION: Dementia prevalence is increasing in sub-Saharan Africa, poten-tially due to population growth and aging. Resource-constrained settings such asNortheastern Nigeria face challenges in dementia management.

METHODS: We assessed dementia burden and management at the Federal Neuropsy-chiatric Hospital Maiduguri, the only neuropsychiatric facility in Northeastern Nigeria.This retrospective analysis included patient records from 1999 to 2023 for individuals60 year of age and older with a dementia diagnosis.

RESULTS: Of the 1216 cases reported, Alzheimer’s disease (60.5%) was the mostcommon subtype, followed by vascular dementia (24.5%). Hypertension (41.6%) wasthe most frequent comorbidity. Memory loss was present in all cases, whereasbehavioral …

The Associations Of Sensory Impairment With 10-Year Risk Of Dementia And Alzheimer's Disease: The Health And Retirement Study, 2010-2020, Kun Li, Rahul Ghosal, Donglan Zhang, Yike Li, Matthew C Lohman, Monique J Brown, Anwar T Merchant, Chih-Hsiang Yang, Jean Neils-Strunjas, Daniela B Friedman, Jingkai Wei

Faculty, Staff and Student Publications

Background: Studies have examined the association between dual sensory impairment and late-life cognitive outcomes in the U.S with inconsistent findings.

Objective: To examine the associations between sensory impairment and 10-year risk of dementia or Alzheimer's disease among U.S. adults aged ≥ 50.

Methods: A prospective cohort study based on the Health and Retirement Study from 2010 to 2020. Individuals aged ≥ 50 years without self-reported dementia and Alzheimer's disease in 2010 were included in the analysis. Self-reported visual and hearing impairments were measures in 2010. Main failure events included self-reported incident dementia and Alzheimer's disease over a 10-year follow-up period. …

Pre-Hospital And Post-Hospital Quality Of Care In Traumatic Spinal Column And Cord Injuries In Iran, Arman Zeinaddini-Meymand, Vali Baigi, Mohammad Mehdi Mousavi-Nasab, Sina Shool, Mohsen Sadeghi-Naini, Zahra Azadmanjir, Seyed Behnam Jazayeri, Samuel Berchi Kankam, Mohammad Dashtkoohi, Aidin Shakeri, Esmail Fakharian, Leila Kouchakinejad-Eramsadati, Habibollah Pirnejad, Homayoun Sadeghi-Bazargani, Laleh Bagheri, Yasaman Pourandish, Malihe Amiri, Ahmad Pour-Rashidi, James Harrop, Vafa Rahimi-Movaghar

Department of Neurosurgery Faculty Papers

STUDY DESIGN: A retrospective study.

OBJECTIVES: The quality of care (QoC) for spinal column/cord injury patients is a major health care concern. This study aimed to implement the QoC assessment tool (QoCAT) in the National Spinal Cord/Column Injury Registry of Iran (NSCIR-IR) to define the current state of pre- and post-hospital QoC of individuals with Traumatic Spinal Column and Spinal Cord Injuries (TSC/SCIs).

METHODS: The QoCAT, previously developed by our team to measure the QoC in patients with TSC/SCIs, was implemented in the NSCIR-IR. The pre-hospital QoC was evaluated through a retrospective analysis of NSCIR-IR registry data. Telephone interviews and …

A Multicenter Training And Interrater Reliability Study Of The Based Score For Infantile Epileptic Spasms Syndrome, John R Mytinger, Dara V F Albert, Shawn C Aylward, Christopher W Beatty, Sonam Bhalla, Sonal Bhatia, Guy N Brock, Micheal A Ciliberto, Purva R Choudhari, Daniel J Clark, Jennifer Madan Cohen, Theresa M Czech, Megan M Fredwall, Ernesto Gonzalez-Giraldo, Chellamani Harini, Senyene E Hunter, Amanda G Sandoval Karamian, Akshat Katyayan, Isaac Kistler, Neil Kulkarni, Virginia B Liu, Corinne Mccabe, Thomas Murray, Kerri Neville, Shital H Patel, Spriha Pavuluri, Donald J Phillips, Debopam Samanta, Deepa Sirsi, Emily M Spelbrink, Carl E Stafstrom, Maija Steenari, Danielle S Takacs, Tyler Terrill, Linh Tran, Jorge Vidaurre, Daniel W Shrey

Faculty, Staff and Students Publications

PURPOSE: The best possible outcomes in infantile epileptic spasms syndrome require electroclinical remission; however, determining electrographic remission is not straightforward. Although the determination of hypsarrhythmia has inadequate interrater reliability (IRR), the Burden of AmplitudeS and Epileptiform Discharges (BASED) score has shown promise for the reliable interictal assessment of infantile epileptic spasms syndrome. Our aim was to develop a BASED training program and assess the IRR among learners. We hypothesized moderate or better IRR for the final BASED score and the presence or absence of epileptic encephalopathy (+/-EE).

METHODS: Using a web-based application, 31 learners assessed 12 unmarked EEGs (length 1-6 …

Multi-Omics Delineate Growth Factor Network Underlying Exercise Effects In An Alzheimer’S Mouse Model, Xin Li, Chaozhong Liu, Wenbo Li, Guantong Qi, Yanwan Dai, Chaohao Gu, Yuxiang Sun, Wenjun Zhou, Veronica C Ciliberto, Jing Liang, Udhaya Kumar S, Dongyin Guan, Zhaoyong Hu, Hui Zheng, Zhandong Liu, Hu Chen, Ying-Wooi Wan, Zheng Sun

Duncan NRI Faculty and Staff Publications

Introduction: Physical exercise is a primary defense against age-related cognitive decline and Alzheimer's disease (AD).

Methods: We conducted single-nucleus transcriptomic and chromatin accessibility analyses (snRNA-seq and snATAC-seq) on the hippocampus of mice carrying mutations in the amyloid precursor protein gene (APPNL-G-F) following prolonged voluntary wheel-running exercise.

Results: Exercise mitigates amyloid-induced changes in transcriptome and chromatin accessibility through cell type-specific regulatory networks converging on growth factor signaling, particularly the epidermal growth factor receptor (EGFR) signaling. The beneficial effects of exercise on neurocognition can be blocked by pharmacological inhibition of EGFR and its downstream PI3K signaling. Exercise leads to elevated levels of …

Use Of Robust Norming To Create A Sensitive Cognitive Summary Score In De Novo Parkinson's Disease: An Illustrative Example, Daniel Weintraub, Michael C Brumm, Ryan Kurth, Michele K York

Faculty, Staff and Students Publications

Background: Cognitive impairment is common at all stages of Parkinson's disease (PD), but there is no consensus on which neuropsychological tests to use or how to interpret cognitive battery results. A cognitive summary score (CSS) combines the richness of a neuropsychological battery with the simplicity of a single score.

Objective: The objective of this study was to determine whether a CSS created using robust norming can detect early cognitive deficits in de novo, untreated PD.

Methods: Baseline cognitive data from PD participants and healthy control participants (HCs) in the Parkinson's Progression Markers Initiative were used to (1) create a robust …

Open Versus Minimally Invasive Spine Surgery Remains A Global Question - A Commentary On "Open Versus Minimally Invasive Spine Surgery In The Treatment Of Single-Level Degenerative Lumbar Spondylolisthesis: An Ao Spine Global Cross-Sectional Study", Alexander E Ropper

Faculty, Staff and Students Publications

No abstract provided.

Visible Light Polarization-Sensitive Optical Coherence Tomography With Balanced Detection, Bahar Baradaran, Adam J Black, Sarah R Heilbronner, Taner Akkin

Faculty, Staff and Students Publications

Significance: We introduce a visible-light polarization-sensitive optical coherence tomography (PS-OCT) system that operates in the spectral domain with balanced detection (BD) capability. While the BD improves the signal-to-noise ratio (SNR), the use of shorter wavelengths improves spatial resolution and birefringence sensitivity.

Aim: We aim to implement a new optical design, characterize its performance, and investigate the imaging potential for biological tissues.

Approach: The design utilizes a unique interferometer and a custom spectrometer that captures four highly aligned spectra with a single area/multi-line camera. Each pair of spectral lines is highly aligned, and their subtraction yields balanced detected spectra of the …

Thalamic Deep Brain Stimulation Improves Movement In A Cerebellar Model Of Lesion-Based Status Dystonicus, Megan X Nguyen, Amanda M Brown, Tao Lin, Roy V Sillitoe, Jason S Gill

Faculty, Staff and Students Publications

Dystonia is the third most common movement disorder and an incapacitating co-morbidity in a variety of neurologic conditions. Dystonia can be caused by genetic, degenerative, idiopathic, and acquired etiologies, which are hypothesized to converge on a "dystonia network" consisting of the basal ganglia, thalamus, cerebellum, and cerebral cortex. In acquired dystonia, focal lesions to subcortical network regions lead to dystonia that can be difficult to manage with canonical treatments, including deep brain stimulation (DBS). While studies in animal models have begun to parse the contribution of individual nodes in the dystonia network, how acquired injury to the cerebellar outflow tracts …

Antiseizure Medications And Their Differing Effects On Cardiovascular Risk, Aleena Abbasi, Bassil Abbasi, Scott Mintzer, Carla Lopinto-Khoury

Department of Neurology Faculty Papers

This review discusses the differing effects of enzyme-inducing and non-inducing antiseizure medications on cardiovascular risk and their implications for the management strategies of epilepsy patients. Traditional risk markers, including low density lipoprotein, high density lipoprotein and triglycerides, can be altered by both enzyme induction and inhibition. Other markers of vascular risk, including c-reactive protein, non-high-density lipoprotein and homocysteine, are affected by antiseizure medications, although adults and children may have different responses. The overall atherosclerotic risk picture is more complex due to indirect effects such as neuroendocrine function and the metabolic syndrome. Large scale data shows an evolving understanding of cardiovascular …

Immunogenetic Studies In Patients With Gad-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes And Klk10 -Gene Variants, Popianna Tsiortou, Harry Alexopoulos, Konstantinos Kyriakidis, Michalis Kosmidis, Chrysanthi Barba, Sofia Akrivou, Ioannis Michalopoulos, Panagiotis Politis, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: The aim of this study was to identify genetic markers and immunologic characteristics of glutamic acid decarboxylase (GAD) antibody-positive patients with stiff-person syndrome (SPS).

METHODS: We conducted systemic immunogenetic studies in 11 GAD-positive patients: 8 with sporadic SPS and 3 from a three-generation family with very high GAD-ab titers but diverse symptomatology (one with GAD-epilepsy and SPS and 2 only with diabetes), by performing complete immunologic profile and whole-exome sequencing analysis.

RESULTS: Two genes expressed in immune and neuronal tissues were identified: the ORAI1 that codes for a calcium release–activated channel protein with a role in the …

Ethical Considerations Of Percutaneous Endoscopic Gastrostomy Tube Placement In A Patient With Creutzfeldt-Jakob Disease And Advanced Dementia, Toni Habib, Niamh Siobhán Mulrooney, Yisroel Grabie, Mohammad Maruf, Sophia Kasapira

HCA Healthcare Journal of Medicine

Background

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative condition that is not easily diagnosed and has no curative treatments available, essentially requiring palliative measures, including tube feeding. Nonetheless, data shows that the endoscope used for percutaneous endoscopic gastrostomy (PEG) tube insertion can be a vector for CJD transmission.

Case Presentation

We discuss the case of an elderly patient diagnosed with CJD, requiring tube feeding. Multiple specialists were consulted, and they were unable to reach an agreement on the best approach. Eventually, the hospital ethics committee intervened, and the family agreed to comfort measures only. This case report sheds light …

Fluorescence Lifetime Imaging Ophthalmoscopy (Flio): A Novel Retinal Metabolic Biomarker For Multiple Sclerosis, Daniel Markowitz, Kylee Shivok, Elizabeth Affel, Ms, Jose S. Pulido, Md, Ms, Mba, Mph, Thomas P. Leist, Md, Phd, Gyorgy Hajnoczky, Md, Phd, Mahdi Alizadeh, Phd, Robert Sergott, Md

Farber Institute for Neuroscience Staff Papers and Presentations

Introduction

- Fluorescence lifetime imaging ophthalmoscopy (FLIO, Heidelberg Engineering, Figures 1 and 2), a novel in vivo retinal imaging biomarker, generates fluorescence decay lifetimes in 2 spectral channels corresponding to the following metabolic processes:

- Short Spectral Channel (SSC): 498 – 560 nm

• Corresponds to macular pigment, flavin adenine dinucleotide (FAD) and oxidative phosphorylation.

- Long Spectral Channel (LSC): 560 – 720nm

• Corresponds to predominantly lipofuscin and lysosomal function

- Based upon animal experimental models and clinical data, mitochondrial dysfunction has a role in the pathophysiology of both inflammatory and degenerative components of Multiple Sclerosis