Nervous System Diseases Commons^™

Left, Then Right Internal Carotid Artery Dissection: A Case Report, Jeffrey M. Kalczynski, John Douds, Michael E. Silverman

SKMC Student Presentations and Publications

INTRODUCTION: We present a unique case of a patient who presented to the emergency department with stroke-like symptoms found to have a spontaneous, left-sided internal carotid artery dissection (ICAD).

CASE REPORT: The patient was treated successfully with thrombectomy and subsequently developed contralateral symptoms caused by a right-sided ICAD. This was managed with a second contra-lateral thrombectomy. The patient's course was complicated by persistent and mild hypotension, postulated to be secondary to bilateral carotid baroreceptor trauma from the dissections.

CONCLUSION: This case highlights the importance of close neurological monitoring for patients, preferably in a neurologic critical care setting, during and after …

Removing Lead From The Global Economy, Stephen P. Luby, Jenna E. Forsyth, Zafar Fatmi, Mahbubur Rahman, Jesmin Sultana, Erica L. Plambeck, N Grant Miller, Eran Bendavid, Peter J. Winch, Howard Hu

Community Health Sciences

No abstract provided.

A Large Scale Multi Institutional Study For Radiomics Driven Machine Learning For Meningioma Grading, Mert Karabacak, Shiv Patil, Rui Feng, Raj K. Shrivastava, Konstantinos Margetis

Department of Medicine Faculty Papers

This study aims to develop and evaluate radiomics-based machine learning (ML) models for predicting meningioma grades using multiparametric magnetic resonance imaging (MRI). The study utilized the BraTS-MEN dataset's training split, including 698 patients (524 with grade 1 and 174 with grade 2-3 meningiomas). We extracted 4872 radiomic features from T1, T1 with contrast, T2, and FLAIR MRI sequences using PyRadiomics. LASSO regression reduced features to 176. The data was split into training (60%), validation (20%), and test (20%) sets. Five ML algorithms (TabPFN, XGBoost, LightGBM, CatBoost, and Random Forest) were employed to build models differentiating low-grade (grade 1) from high-grade …

Dynamic Dysregulation Of Retrotransposons In Neurodegenerative Diseases At The Single-Cell Level\, Wankun Deng, Citu Citu, Andi Liu, Zhongming Zhao

Faculty, Staff and Student Publications

Retrotransposable elements (RTEs) are common mobile genetic elements comprising ∼42% of the human genome. RTEs play critical roles in gene regulation and function, but how they are specifically involved in complex diseases is largely unknown. Here, we investigate the cellular heterogeneity of RTEs using 12 single-cell transcriptome profiles covering three neurodegenerative diseases, Alzheimer's disease (AD), Parkinson's disease, and multiple sclerosis. We identify cell type marker RTEs in neurons, astrocytes, oligodendrocytes, and oligodendrocyte precursor cells that are related to these diseases. The differential expression analysis reveals the landscape of dysregulated RTE expression, especially L1s, in excitatory neurons of multiple neurodegenerative diseases. …

Il-7rα On Cd4+ T Cells Is Required For Their Survival And The Pathogenesis Of Experimental Autoimmune Encephalomyelitis, Gholamreza Azizi, Bram Van Den Broek, Larissa Ishikawa, Hamed Naziri, Reza Yazdani, Guang-Xian Zhang, Bogoljub Ciric, Mohamad Rostami

Department of Neurology Faculty Papers

BACKGROUND: The IL-7 receptor alpha (IL-7Rα) binds both IL-7 and thymic stromal lymphopoietin (TSLP). IL-7Rα is essential for the development and survival of naive CD4+ T cells and their differentiation to effector/memory CD4+ T cells. Mice lacking IL-7Rα have severe lymphopenia and are resistant to experimental autoimmune encephalomyelitis (EAE), a model for multiple sclerosis. However, it has been reported that IL-7Rα on peripheral CD4+ T cells is disposable for their maintenance and EAE pathogenesis, which does not align with the body of knowledge on the role of IL-7Rα in the biology of CD4+ T cells. Given that a definitive study …

The Fundamentals Of Antiseizure Medications: A Through Z, Timothy E Welty, Jeannine M Conway, Jacquelyn Bainbridge, Kristen Park, David G Vossler, Archana A Patel, Alica Goldman

Faculty, Staff and Students Publications

Since bromides were first used in 1857 to treat epilepsy, numerous antiseizure medications (ASM) have been developed. Many of these are available for the treatment of epilepsy and status epilepticus today. With so many ASM available, questions arise as to whether all of these medications are needed and when should they be used. As precision medicine begins to play a larger role in determining targeted treatments for specific types of epilepsy, a complete understanding of various medications is needed. Additionally, access to several of these medications can be limited in the United States and are especially limited globally. All these …

Sex Differences In The Association Between Glial Fibrillary Acidic Protein And Cognitive Performance In Autosomal Dominant Alzheimer’S Disease, Taryn Gordon

Doctor of Psychology (PsyD)

The rising incidence of Alzheimer’s Disease and its disproportionate prevalence in the female sex has led to a growth in research focused on preclinical Alzheimer’s Disease and the histopathological brain changes. However, limited research has focused on preclinical changes in Autosomal Dominant Alzheimer’s Disease populations and sex differences within these unique populations. This study aimed to address gaps in the literature by examining biological markers of neuroinflammation, glial fibrillary acidic protein (GFAP), in preclinical Autosomal Dominant Alzheimer’s Disease mutation carriers and non-carriers, and its relationship with cognitive function and sex. Archival data was utilized from the Colombia-Boston biomarker study of …

Partial Purification Of Alzheimer’S Amyloid-𝛽 Specific Antibody Using Ammonium Sulfate, Noor Yousaf

Undergraduate Research Symposium

Alzheimer's disease (AD) is the most common neurodegenerative disease. The trigger for AD is the accumulation of amyloid-beta protein (Aβ) as senile plaques in the brain. Prior to forming the fiber-like structures found in the plaques, Aβ undergoes an oligomerization process that produces intermediate structures called protofibrils. Substantial data from the Nichols laboratory demonstrated that soluble Aβ protofibrils were highly inflammatory compared to other forms of Aβ. Based on these findings, a serum polyclonal antibody, named Antibody St. Louis or AbSL, was developed to target Aβ protofibrils. A significant challenge with serum antibodies is the presence of many other biological …

The Impact Of Hypertension On Clinical Outcomes In Moyamoya Disease: A Multicenter, Propensity Score-Matched Analysis, Basel Musmar, Joanna Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan Grossberg, Adam Dmytriw, Aman Patel, Mirhojjat Khorasanizadeh, Christopher Ogilvy, Ajith Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo Cortez, Ricardo Hanel, Guilherme Porto, Alejandro Spiotta, Anthony Piscopo, David Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid Nimjee, Kimon Bekelis, Mohamed Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel Herial, Stavropoula Tjoumakaris, Michael Gooch, Robert Rosenwasswer, Pascal Jabbour

Department of Neurosurgery Faculty Papers

BACKGROUND: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive steno-occlusive changes in the internal carotid arteries, leading to an abnormal vascular network. Hypertension is prevalent among MMD patients, raising concerns about its impact on disease outcomes. This study aims to compare the clinical characteristics and outcomes of MMD patients with and without hypertension.

METHODS: We conducted a multicenter, retrospective study involving 598 MMD patients who underwent surgical revascularization across 13 academic institutions in North America. Patients were categorized into hypertensive (n=292) and non-hypertensive (n=306) cohorts. Propensity score matching (PSM) was performed to adjust for baseline differences.

RESULTS: …

Rapid Response: Infantile Spasms And Low-Dose Prednisolone In A Young Child With Down Syndrome, Briana Noel Cortez, Christopher Cavazos, Aaron Carrillo, Brianna Woodliff

Research Colloquium

Background: Infantile spasms are an age-related epileptic disorder occurring in infancy or early childhood and are common in children with Down Syndrome. They have been associated with developmental delay, and thus rapid treatment of the disorder has been emphasized. First line treatments include a high dose prednisolone taper or adrenocorticotropic hormone (ACTH), of which, neither has been shown to be more efficacious in recent studies. Other less effective options include vigabatrin or high-dose pyridoxine.

Case Presentation: Our patient is a 1-year old female with Down Syndrome, who presented with concern for infantile spasms, occurring from 4-10 months of age. Episodes …

Neuroinflammation And Brain Health Risks In Veterans Exposed To Burn Pit Toxins, Athena Brooks, Brian Sandri, Joshua Nixon, Timothy Nurkiewicz, Paul Barach, Janeen Trembley, Tammy Butterick

College of Population Health Faculty Papers

Military burn pits, used for waste disposal in combat zones, involve the open-air burning of waste materials, including plastics, metals, chemicals, and medical waste. The pits release a complex mixture of occupational toxic substances, including particulate matter (PM), volatile organic compounds (VOCs), heavy metals, dioxins, and polycyclic aromatic hydrocarbons (PAHs). Air pollution significantly impacts brain health through mechanisms involving neuroinflammation. Pollutants penetrate the respiratory system, enter the bloodstream, and cross the blood-brain barrier (BBB), triggering inflammatory responses in the central nervous system (CNS). Chronic environmental exposures result in sustained inflammation, oxidative stress, and neuronal damage, contributing to neurodegenerative diseases and …

An Unusual Case Of Metronidazole-Induced Encephalopathy In A Patient With Hereditary Hemorrhagic Telangiectasia, Tina H. Dao, Kinza Khan, Christopher D. Jackson

Journal of Community Hospital Internal Medicine Perspectives

Metronidazole-induced encephalopathy (MIE) is a rare toxic encephalopathy. We describe a reversible MIE case in a patient with hereditary hemorrhagic telangiectasia (HHT), treated with metronidazole for brain abscess, who developed dizziness, weakness, dysarthria, and severe dysmetria. His Magnetic Resonance Imaging (MRI) brain revealed bilateral, symmetric lesions in bilateral symmetrical regions of increased intensity in the medullary olives, cerebellar dentate nuclei, and the dorsal pons, all characteristic of MIE. Upon metronidazole discontinuation, the patient experienced significant symptom improvement, with subsequent MRI showing resolution of the lesions

Genome-Wide Association Study Meta-Analysis Of Neurofilament Light (Nfl) Levels In Blood Reveals Novel Loci Related To Neurodegeneration, Shahzad Ahmad, Mohammad Aslam Imtiaz, Aniket Mishra, Ruiqi Wang, Marisol Herrera-Rivero, Joshua C Bis, Myriam Fornage, Gennady Roshchupkin, Edith Hofer, Mark Logue, W T Longstreth, Rui Xia, Vincent Bouteloup, Thomas Mosley, Lenore J Launer, Michael Khalil, Jens Kuhle, Robert A Rissman, Genevieve Chene, Carole Dufouil, Luc Djoussé, Michael J Lyons, Kenneth J Mukamal, William S Kremen, Carol E Franz, Reinhold Schmidt, Stephanie Debette, Monique M B Breteler, Klaus Berger, Qiong Yang, Sudha Seshadri, N Ahmad Aziz, Mohsen Ghanbari, M Arfan Ikram

Faculty, Staff and Student Publications

Neurofilament light chain (NfL) levels in circulation have been established as a sensitive biomarker of neuro-axonal damage across a range of neurodegenerative disorders. Elucidation of the genetic architecture of blood NfL levels could provide new insights into molecular mechanisms underlying neurodegenerative disorders. In this meta-analysis of genome-wide association studies (GWAS) of blood NfL levels from eleven cohorts of European ancestry, we identify two genome-wide significant loci at 16p12 (UMOD) and 17q24 (SLC39A11). We observe association of three loci at 1q43 (FMN2), 12q14, and 12q21 with blood NfL levels in the meta-analysis of African-American ancestry. In the trans-ethnic meta-analysis, we identify …

Multimodal Mixing Convolutional Neural Network And Transformer For Alzheimer’S Disease Recognition, Junde Chen, Yun Wang, Adnan Zeb, M. D. Suzauddola, Yuxin Wen

Engineering Faculty Articles and Research

Early recognition of Alzheimer’s disease (AD) and its precursor state, mild cognitive impairment (MCI), is pivotal in interrupting the progression of the disease and providing suitable treatment. Recent development in deep learning techniques has drawn great research attention for improving the efficacy of AD recognition. However, numerous current methods solely utilize data from a single auxiliary domain, limiting their ability to harness valuable intrinsic insights from multiple domains. To cope with the challenge, this paper is devoted to establishing an innovative multimodal medical data fusion model, termed as MMDF, to perform Alzheimer’s disease recognition. Multimodal data including clinical records and …

Streptococcus Pneumoniae Spinal Epidural Abscess In An Immunocompetent Patient, Salena Sinnasone, Michelle Blyth

School of Medicine Faculty Publications

Epidural abscesses are a rare diagnosis in immunocompetent patients. The most common risk factors linked with spinal epidural abscesses are intravenous drug use, diabetes mellitus, hepatitis, and iatrogenic factors like prior surgery and catheter usage. The thoracic and lumbar spine are the most common sites of these abscesses. Clinical presentation can include back pain, fever, and neurologic deterioration, with back pain occurring in almost two-thirds of patients. Staphylococcus aureus is the most common causative pathogen. We present a 50 male with no significant past medical or family history who presented with progressive back pain for greater than one week, chills …

A Genome-Wide Association Meta-Analysis Of All-Cause And Vascular Dementia, Mega Vascular Cognitive Impairment And Dementia (Megavcid) Consortium

Faculty, Staff and Students Publications

INTRODUCTION: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

METHODS: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors.

RESULTS: For ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability …

Management Targeted Genetic Evaluation Of An Idiopathic Neuropathy Cohort Through Attrv Amyloidosis Screening, Kristy A. Fisher, Santiago Diaz, Jeffrey Gelblum, Charles Brock, Niraja Suresh, Meghan Towne

HCA Healthcare Journal of Medicine

Background

While the reported prevalence of polyneuropathies is 1%-3%, the incidence of hereditary transthyretin amyloidosis in the United States is estimated to be 1 in 100 000 individuals. Polyneuropathies are known to be difficult to treat and lead to significant morbidity. The aim of pain management is symptomatic treatment, with varying approaches to progression prevention being based on the causative pathophysiology.

We assessed the prevalence of hereditary amyloid transthyretin variant (ATTRv) amyloidosis, a progressive autosomal dominant multisystem disease caused by the abnormal formation and extracellular deposition of transthyretin protein fibrils in various tissues, in an idiopathic polyneuropathy population by using …

A Clinical Review On Spinal Epidural Abscess: Epidemiology, Pathophysiology, Diagnosis, And Management For Emergency Medicine And Hospitalist Physicians, Madeline A. Guy, Jeffrey S. Guy

HCA Healthcare Journal of Medicine

Spinal epidural abscess (SEA), a critical surgical emergency, demands prompt recognition and intervention to prevent severe complications and fatalities. The incidence of SEA is notably increasing, particularly among individuals with diabetes, intravenous drug use, or a history of invasive spinal procedures. Although SEA can manifest through various clinical symptoms, the presence of its classic triad—back pain, fever, and neurological deficits—is noteworthy despite its occurrence in only 10% to 13% of cases. Identifying this triad is vital due to its high specificity for SEA, which is essential to guiding swift diagnostic and therapeutic actions in a condition where early intervention is …

Endoscopic Transventricular "Inside-Out" Corpus Callosotomy: Illustrative Case, Michael Baumgartner, Elias Atallah, Kathleen Galligan, Pamela Mcdonnell, Benjamin Kennedy

Department of Neurosurgery Faculty Papers

BACKGROUND: Tonic and atonic "drop attack" seizures are a classic and morbid semiology in Lennox-Gastaut syndrome, resulting in frequent injuries and emergency room visits, in addition to neurocognitive sequelae. Recent years have seen a growing interest in less invasive techniques for performing the classic surgical treatment for drop attacks in Lennox-Gastaut syndrome, that is, corpus callosotomy.

OBSERVATIONS: A 5-year-old boy with Lennox-Gastaut syndrome presented for surgical evaluation. He experienced up to 20 daily tonic seizures despite multiple antiseizure medications. Preoperative imaging revealed highly abnormal anatomy with severe ventriculomegaly and thinning of the cortex and corpus callosum. Open microsurgery or an …

Clinical Features And Disease Progression In Older Individuals With Rett Syndrome, Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Cary Fu, Robin C Ryther, Steven A Skinner, David N Lieberman, Timothy Feyma, Arthur Beisang, Peter Heydemann, Sarika U Peters, Amitha Ananth, Alan K Percy

Faculty, Staff and Students Publications

Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of MECP2 variants and clinical severity between younger individuals with Classic RTT (under 30 years old) and older individuals (over 30 years old). Contrary to expectation, enrichment of a severe MECP2 variant (R106W) was observed in the older cohort. Overall severity was not different …