Neurology Commons^™

Progress In Protein Structure Prediction: An Xai Perspective, Yosef E. Granillo, Badri Adhikari

Undergraduate Research Symposium

The full extent of the impact of deep learning models on structural biology will depend on their ability to provide novel biological insights. The field of structure prediction, where deep learning has produced miraculously accurate results, is at a critical stage of benefiting from the methods in interpretable deep learning. The exact mechanisms by which advanced computational models learn to interpret protein shapes and functions during their training remain largely unclear. These questions underscore the need for further research, as understanding these mechanisms is crucial for researchers to trust the predictions of these models. However, interpretable machine learning is ripening …

Functional Studies Of Genetic Variants Associated With Human Diseases In Notch Signaling-Related Genes Using Drosophila, Sheng-An Yang, Jose L Salazar, David Li-Kroeger, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Rare variants in the many genes related to Notch signaling cause diverse Mendelian diseases that affect myriad organ systems. In addition, genome- and exome-wide association studies have linked common and rare variants in Notch-related genes to common diseases and phenotypic traits. Moreover, somatic mutations in these genes have been observed in many types of cancer, some of which are classified as oncogenic and others as tumor suppressive. While functional characterization of some of these variants has been performed through experimental studies, the number of ‘variants of unknown significance’ identified in patients with diverse conditions keeps increasing as high-throughput sequencing technologies …

Proceedings Of The 10th Annual Deep Brain Stimulation Think Tank: Advances In Cutting Edge Technologies, Artificial Intelligence, Neuromodulation, Neuroethics, Interventional Psychiatry, And Women In Neuromodulation, Joshua K Wong, Helen S Mayberg, Doris D Wang, R Mark Richardson, Casey H Halpern, Lothar Krinke, Mattia Arlotti, Lorenzo Rossi, Alberto Priori, Sara Marceglia, Ro'ee Gilron, James F Cavanagh, Jack W Judy, Svjetlana Miocinovic, Annaelle D Devergnas, Roy V Sillitoe, Stephanie Cernera, Carina R Oehrn, Aysegul Gunduz, Wayne K Goodman, Erika A Petersen, Helen Bronte-Stewart, Robert S Raike, Mahsa Malekmohammadi, David Greene, Petra Heiden, Huiling Tan, Jens Volkmann, Valerie Voon, Luming Li, Pankaj Sah, Terry Coyne, Peter A Silburn, Cynthia S Kubu, Anna Wexler, Jennifer Chandler, Nicole R Provenza, Sarah R Heilbronner, Marta San Luciano, Christopher J Rozell, Michael D Fox, Coralie De Hemptinne, Jaimie M Henderson, Sameer A Sheth, Michael S Okun

Faculty, Staff and Students Publications

The deep brain stimulation (DBS) Think Tank X was held on August 17–19, 2022 in Orlando FL. The session organizers and moderators were all women with the theme women in neuromodulation. Dr. Helen Mayberg from Mt. Sinai, NY was the keynote speaker. She discussed milestones and her experiences in developing depression DBS. The DBS Think Tank was founded in 2012 and provides an open platform where clinicians, engineers and researchers (from industry and academia) can freely discuss current and emerging DBS technologies as well as the logistical and ethical issues facing the field. The consensus among the DBS Think …

Intensive Care Bundle With Blood Pressure Reduction In Acute Cerebral Hemorrhage Trial (Interact3): Study Protocol For A Pragmatic Stepped-Wedge Cluster-Randomized Controlled Trial, Lili Song, Xin Hu, Lu Ma, Xiaoying Chen, Menglu Ouyang, Laurent Billot, Qiang Li, Paula Muñoz-Venturelli, Carlos Abanto, Mohammad Wasay

Section of Neurology

Background: Early intensive blood pressure (BP) lowering remains the most promising treatment for acute intracerebral hemorrhage (ICH), despite discordant results between clinical trials and potential variation in the treatment effects by approach to control BP. As the third in a series of clinical trials on this topic, the INTEnsive care bundle with blood pressure Reduction in Acute Cerebral hemorrhage Trial (INTERACT3) aims to determine the effectiveness of a goal-directed care bundle protocol of early physiological control (intensive BP lowering, glycemic control, and pyrexia treatment) and reversal of anticoagulation, in acute ICH.
Methods: INTERACT3 is a pragmatic, international, multicenter, stepped-wedge (4 …

Investigating The Role Of The Skeletal Muscle In Amyotrophic Lateral Sclerosis Neuromuscular Junction Dysfunction, Agnes Badu-Mensah

Electronic Theses and Dissertations, 2020-2023

Neuromuscular junction (NMJ) dysfunction has been identified as one of the earliest events in Amyotrophic Lateral Sclerosis (ALS) pathology. However, which tissue type induces NMJ disruption; be it the motoneurons (hMN), Schwann cells or skeletal muscle (hSKM) remains unresolved. While mechanisms by which ALS hMN contribute to NMJ dysfunction are well-described in literature, limited information exist on how the other tissue types in the tripartite synapse (hSKM and Schwann cells) induce and/or contribute to ALS NMJ disruption. A fair understanding of the role of each tissue type in NMJ dysfunction would help shape the trajectory of future ALS research and …

The Cross-Sectional Association Of Cognition With Diabetic Peripheral And Autonomic Neuropathy–The Grade Study, Joshua I Barzilay, Alokananda Ghosh, Rodica Pop Busui, Andrew Ahmann, Ashok Balasubramanyam, Mary Ann Banerji, Robert M Cohen, Jennifer Green, Faramarz Ismail-Beigi, Catherine L Martin, Elizabeth Seaquist, José A Luchsinger, Grade Research Group

Faculty, Staff and Students Publications

BACKGROUND: Studies examining whether measures of cognition are related to the presence of diabetic peripheral neuropathy (DPN) and/or cardiovascular autonomic neuropathy (CAN) are lacking, as are data regarding factors potentially explaining such associations.

METHODS: Participants were from the Glycemia Reduction Approaches in Diabetes Study (GRADE) that examined 5047 middle-aged people with type 2 diabetes of(memory) were assessed with the Spanish English Verbal Learning Test; frontal executive function and processing speed with the Digit Symbol Substitution Test; and ability to concentrate and organize data with word and animal fluency tests. DPN was assessed with the Michigan Neuropathy Screening Instrument and CAN …

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

Department of Pathology and Laboratory Medicine

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

Stimulating The Facial Nerve To Treat Ischemic Stroke: A Systematic Review, Turner S. Baker, Justin Robeny, Danna Cruz, Alexis Bruhat, Alfred-Marc Iloreta, Anthony Costa, Thomas James Oxley

Publications and Research

Acute ischemic stroke (AIS) is a common devastating disease that has increased yearly in absolute number of cases since 1990. While mechanical thrombectomy and tissue plasminogen activator (tPA) have proven to be effective treatments, their window-of-efficacy time is very short, leaving many patients with no viable treatment option. Over recent years there has been a growing interest in stimulating the facial nerves or ganglions to treat AIS. Pre-clinical studies have consistently demonstrated an increase in collateral blood flow (CBF) following ganglion stimulation, with positive indications in infarct size and neurological scores. Extensive human trials have focused on trans-oral electrical stimulation …

Apoe Gene Associated With Cholesterol-Related Traits In The Hispanic Population, Stephanie Lozano, Victoria I. Padilla, Manuel Lee Avila, Mario Gil, Gladys E. Maestre, Kesheng Wang, Chun Xu

Health & Biomedical Sciences Faculty Publications

Genetic variants in the apolipoprotein E (APOE) gene are associated with lipid metabolism and lipid-related traits in the non-Hispanic population. There have been limited studies regarding the association between the APOE gene and hypercholesterolemia in the Hispanic population; therefore, our aim for this study is to examine the APOE gene’s associations with cholesterol level and its related phenotypes. The APOE gene consists of three different alleles, ε2, ε3, and ε4, with ε4 being associated with dementia and cardiovascular diseases. A total of 1,382 subjects were collected from the Texas Alzheimer’s Research and Care Consortium (TARCC, N = 1320) and the …

Apathy Is Not Associated With A Panel Of Biomarkers In Older Adults With Hiv Disease, Steven Paul Woods, Jennifer L Thompson, Michelle A Babicz, Lokesh Shahani, Gabriela Delevati Colpo, Natalia P Rocha, Erin E Morgan, Antonio L Teixeira

Faculty, Staff and Student Publications

OBJECTIVE: Apathy is prevalent in HIV disease and can significantly impact personal well-being; however, little is known about its neurobiological substrates in persons with HIV (PWH) disease.

METHODS: This cross-sectional, correlational study examined the association between apathy and several plasma biomarkers (tumor necrosis factor alpha, kynurenine, tryptophan, quinolinic acid, brain-derived neurotrophic factor, glial fibrillary acidic protein, neurofilament light chain, and phosphorylated tau at position threonine 181) in 109 PWH and 30 seronegative participants ages 50 and older. Apathy was measured with a composite score derived from subscales of the Frontal Systems Behavior Scale and the Profile of Mood States.

RESULTS: …

Atypical Involvement Of Central Nervous System In Classic Hodgkin Lymphoma: A Case Report, Shanila Ahmed, Babar Irfan, Muhammad Raza, Ghulam Haider

Section of Haematology/Oncology

Background: Hodgkin lymphoma is a systemic disease that commonly involves the cervical, supraclavicular, and mediastinal lymph nodes. The involvement of central nervous system in Hodgkin lymphoma is extremely rare, and diagnosis is usually established using distinct morphological and immunohistochemical staining on the tissue biopsied. Extranodal presentation of HL is a rare occurrence. It has been evident that prognosis is encouraging in patients with disease that is limited to just central nervous system initially or as relapse, compared with involvement of multiple sites of relapse.
Case presentation: We herein report a case of a 35-year-old South-East Asian male with relapsed Hodgkin …

Stroke Care In Pakistan, Anjum Farooq, Narayanaswamy Venketasubramanian, Mohammad Wasay

Section of Neurology

Increasing incidence of stroke and lack of infrastructure in both urban and rural areas needs immediate attention in Pakistan. There is a high proportion of young stroke with poor stroke outcomes. Acute stroke care is scarce in Pakistan due to the small number of neurologists (1 neurologist per 1 million population), few stroke units, and limited availability of alteplase (recombinant tissue plasminogen activator) in the country.

In Pursuit: A Mother’S Account Of Her Son’S Rare Disease Diagnosis Journey, Anne M. Jones

Journal of Patient-Centered Research and Reviews

A personal account from a mother’s perspective on her undiagnosed son’s medical journey over almost 6 years toward a diagnosis of a rare genetic variant in mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) resulting in neurodevelopment disorder.

Conference Proceedings: Select Abstracts Presented At 2021 Advocate Aurora Health Scientific Day

Journal of Patient-Centered Research and Reviews

Abstracts published within this supplement were presented at the 47th annual Advocate Aurora Health Scientific Day, held virtually on May 26, 2021. This research symposium provides a forum for disseminating results from studies conducted by faculty, fellows, residents, and other allied health professionals associated with Midwest-based health system Advocate Aurora Health, which publishes the Journal of Patient-Centered Research and Reviews.

Neuroimaging Referral For Reassurance In Evaluation Of Headache With Low-Risk Features, Omar E. Fernandez

Clinical Research in Practice: The Journal of Team Hippocrates

A clinical decision report using:

Howard L, Wessely S, Leese M, et al. Are investigations anxiolytic or anxiogenic? A randomised controlled trial of neuroimaging to provide reassurance in chronic daily headache. J Neurol Neurosurg Psychiatry. 2005;76(11):1558-1564. https://doi.org/10.1136/jnnp.2004.057851

for a patient with daily headache.

Awake Craniotomy For Resection Of Intracranial Meningioma: First Case Series From A Low- And Middle-Income Country, Saqib Kamran Bakhshi, Noyan Jawed, Faraz Shafiq, Ather Enam

Section of Neurosurgery

Introduction: Awake craniotomy (AC) has emerged as a better modality for resection of intra-axial brain tumors. The advantages are not just related to the preservation of neurological function, but also include early recovery, short hospital stay and possibly lower costs. However, data on AC for meningioma resection is deficient, likely because of concerns related to intra-operative pain and blood loss.
Methods: All patients who underwent AC, using awake through-out technique for resection of meningioma, during the last five years, were included in the study. Non-probability consecutive sampling technique was employed. Variables for demographics, and details of diagnosis and surgical procedure …

Neuropsychological Symptoms Related To The Covid-19 Pandemic Experienced By The General Population And Particularly By The Healthcare Personnel, Alina Zorina Stroe, Alexandru Floris Stuparu, Silviu Docu Axelerad, Daniel Docu Axelerad, Aurelia Moraru

Journal of Mind and Medical Sciences

Undoubtedly, the outbreak of COVID-19 still represents an overanxious event for both society and population. The fear of getting infected is ubiquitous in the time of the pandemic. The population presented worrying thoughts related to the fact that the health care system was not able to provide enough services during the COVID-19 pandemic. The number of the hospital beds and ventilators was insufficient in order to ensure enough care, considering the increased number of COVID-19 cases that were admitted to the hospitals. Furthermore, people were fearful about the possibility of the global economy becoming decimated. The fright and also the …

Chronic Long-Covid Syndrome: A Protracted Covid-19 Illness With Neurological Dysfunctions, Abdul Mannan Baig

Department of Biological & Biomedical Sciences

After almost a year of COVID-19, the chronic long-COVID syndrome has been recognized as an entity in 2021. The patients with the long-COVID are presenting with ominous neurological deficits that with time are becoming persistent and are causing disabilities in the affected individuals. The mechanisms underlying the neurological syndrome in long-COVID have remained obscure and need to be actively researched to find a resolution for the patients with long-COVID. Here, the factors like site of viral load, the differential immune response, neurodegenerative changes, and inflammation as possible causative factors are debated to understand and investigate the pathogenesis of neuro-COVID in …

Terrorism In Your Brain: The Battles Of Multiple Sclerosis (Ms), Paul W. Asper

Student Publications

This paper is a review of Multiple Sclerosis (MS) looking at the phenotypes, epidemiology, etiology, pathology, and immunology. Additionally, this paper examines the clinical presentations and criteria for diagnosis along with the treatment and management of symptoms.

Prion Disease: A Challenging Diagnosis, Jeffrey F. Spindel, Anita M. Fletcher, William T. Smith, Rodrigo Cavallazzi

The University of Louisville Journal of Respiratory Infections

Introduction: Human prion diseases are a group of rare encephalopathies resulting in rapidly progressive dementia and ultimately death. While there are no effective treatments for any form of prion disease, prompt and efficient diagnosis is essential to prevent the spread of the self-propagating protein, which may occur through aerosols, and avoid unnecessary or invasive testing. Diagnosis relies largely on physical examination, with many nonspecific findings, and laboratory testing, which has wide ranges of reported accuracy and high false positive rates with diseases such as Alzheimer’s dementia.

Methods: Patients who underwent testing for prion disease were retrospectively identified from the electronic …

Dysfunctional Tissue Correlates Of Unrelated Naming Errors In Acute Left Hemisphere Stroke, Erin L. Meier, Shannon M. Sheppard, Emily B. Goldberg, Catherine R. Kelly, Alexandra Walker, Delaney M. Ubellacker, Emilia Vitti, Kristina Ruch, Argye E. Hillis

Communication Sciences and Disorders Faculty Articles and Research

Most naming error lesion-symptom mapping (LSM) studies have focused on semantic and/or phonological errors. Anomic individuals also produce unrelated word errors, which may be linked to semantic or modality-independent lexical deficits. To investigate the neural underpinnings of rarely-studied unrelated errors, we conducted LSM analyses in 100 individuals hospitalised with a left hemisphere stroke who completed imaging protocols and language assessments. We used least absolute shrinkage and selection operator regression to capture relationships between naming errors and dysfunctional brain tissue metrics (regional damage or hypoperfusion in vascular territories) in two groups: participants with and without impaired single-word auditory comprehension. Hypoperfusion—particularly within …

Scoping Review: The Empowerment Of Alzheimer’S Disease Caregivers With Mhealth Applications, Eunhee Kim, Andrius Baskys, Anandi V. Law, Moom R. Roosan, Yan Li, Don Roosan

Pharmacy Faculty Articles and Research

Alzheimer’s Disease (AD) is one of the most prevalent neurodegenerative chronic diseases. As it progresses, patients become increasingly dependent, and their caregivers are burdened with the increasing demand for managing their care. Mobile health (mHealth) technology, such as smartphone applications, can support the need of these caregivers. This paper examines the published academic literature of mHealth applications that support the caregivers of AD patients. Following the PRISMA for scoping reviews, we searched published literature in five electronic databases between January 2014 and January 2021. Twelve articles were included in the final review. Six themes emerged based on the functionalities provided …

Frontotemporal Dementias In Latin America: History, Epidemiology, Genetics, And Clinical Research, Jorge J. Llibre-Guerra, Maria Isabel Behrens, Mirna Lie Hosogi, Lucia Montero, Teresa Torralva, Nilton Custodio, Erika Mariana Longoria-Ibarrola, Margarita Giraldo-Chica, David Aguillón, Gladys E. Maestre

School of Medicine Publications

Introduction: The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries.

Methods: A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized …

Role Of Multidisciplinary Neuro-Oncology Tumour Boards In Cancer Management, Mohammad Hamza Bajwa, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Multidisciplinary care, including a tumour board discussion for all patients with oncological problems is now considered a standard. However, this is not uniformly implemented within many centres, especially in developing countries. The structure of these tumour boards allows for comprehensive discussion and debate regarding various treatment pathways, with inputs from all specialties. This creates a consensus regarding management for each patient that is unique and holistic. Despite its widespread implementation, published data on neuro-oncology tumour boards is quite limited. The presented literature review briefly discusses the structure, goals, outcomes achieved by multidisciplinary tumour boards within the field of neuro-oncology.

Difficulty Breathing Or Just A Case Of The Nerves? Incidental Finding Of Primary Pleural Schwannoma In A Covid-19 Survivor, Daania Shoaib, Muhammad Nauman Zahir, Saqib R. Khan, Adnan Jabbar, Yasmin Abdul Rashid

Section of Haematology/Oncology

Schwannoma is a rare tumor that arises from the Schwann cells, which are specialized, myelin-producing cells of the peripheral nerve sheaths. As anatomic logic would dictate, these masses commonly occur in the skull base, cerebellopontine angle, and posterior spinal roots. Of this already rare entity, rarer still are the pleural schwannomas, representing approximately 1-2% of thoracic tumors. These tumors commonly affect adults with a propensity for the third and sixth decades of life and a comparative male predilection. Schwannomas are benign, indolent, and follow an asymptomatic course. As such, they often come to light incidentally.
Here we report a case …

Neurovascular Regulation In Diabetic Retinopathy And Emerging Therapies, Liyang Ji, Hong Tian, Keith A Webster, Wei Li

Faculty, Staff and Students Publications

Diabetic retinopathy (DR) is the leading cause of vision loss in working adults in developed countries. The disease traditionally classified as a microvascular complication of diabetes is now widely recognized as a neurovascular disorder resulting from disruption of the retinal neurovascular unit (NVU). The NVU comprising retinal neurons, glia and vascular cells coordinately regulates blood flow, vascular density and permeability to maintain homeostasis. Disturbance of the NVU during DR can lead to vision-threatening clinical manifestations. A limited number of signaling pathways have been identified for intercellular communication within the NVU, including vascular endothelial growth factor (VEGF), the master switch for …

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Diagnosis Obscured By Concomitant Recreational Drug Use, Paige Lester Ms Ii, Adam M. Franks Md, William Rollyson Ms Iv, Jenna K. Barbour Md, Matthew B. Curry Md

Marshall Journal of Medicine

Anti-NMDA receptor encephalitis (aNMDAre) is a relatively newly discovered autoimmune and inflammatory disorder affecting the limbic system. It has a clinical course that includes Prodromal, Psychiatric, Unresponsive and Hyperkinetic stages. These stages are often confused with mental health issues in the medical literature, but they also share symptoms of various drug intoxication and withdrawal states. Implicit bias in physicians regarding substance use disorder and patient demographics can impair delivery of care and outcomes in patients with aNMDAre, especially in an environment of recreational drug use. When clinical presentation aligns, this diagnosis should be investigated as soon as possible, even in …

The Experience Of Off Periods In Parkinson’S Disease: Descriptions, Triggers, And Alleviating Factors, Sneha Mantri, Madeline Lepore, Briana Edison, Margaret Daeschler, Catherine Kopil, Connie Marras, Lana Chahine

Journal of Patient-Centered Research and Reviews

Purpose: Wearing off of Parkinson’s disease medication is common, but triggers and coping strategies for this transient phenomenon are poorly understood. We aimed to assess the lived experience of OFF periods for people with Parkinson’s disease.

Methods: Participants in the longitudinal Fox Insight study who endorsed OFF periods were invited to complete a survey consisting of both multiple-choice and free-text responses. Descriptive statistics were used to summarize multiple-choice responses, and free-text responses were classified into themes through iterative discussion by 3 movement disorders specialists.

Results: A total of 2110 participants (52.4% male) completed the survey. Tremor was the most common …

Use Of Ultrasonic Aspirator For Cns Tumour Resection, Noman Ahmad, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Ultrasonic aspirator (UA), or the Cavitron Ultrasonic Aspirator (CUSA) as it is commonly referred to, utilizes ultrasonic waves of variable range of frequencies to disintegrate and excise tumours. It is developed as a substitute of bipolar diathermy; a tool commonly employed for coagulation that uses focussed electric current and may damage tissues by virtue of contact, or by the heat that it produces. Over the last 30 years, CUSA has become increasingly popular in several soft tissue surgeries, especially brain and spine tumour resection, as it allows reduction in the use of bipolar diathermy. It is assumed that CUSA improves …

The Detrimental Association Between Fear Of Falling And Motor Performance In Older Cancer Patients With Chemotherapy-Induced Peripheral Neuropathy, Gu Eon Kang, Tamiko K Murphy, Mark E Kunik, Hoda J Badr, Biruh T Workeneh, Sarvari V Yellapragada, Yvonne H Sada, Bijan Najafi

Faculty, Staff and Students Publications

BACKGROUND: Cancer patients with chemotherapy-induced peripheral neuropathy (CIPN) are at increased risk of falls and developing fear of falling (FoF). Although FoF may continue to impair motor performance and increase the risk of falling even further, this association remains unexplored in CIPN.

RESEARCH QUESTION: Does high FoF in patients with CIPN further deteriorate motor performance beyond the impairment from CIPN-related sensory deficits?

METHODS: In this secondary analysis of data collected from two clinical trials, gait parameters during habitual walking condition and postural sway parameters during 30-second quiet standing (eye-open and eyes-closed) were compared among older participants (≥ 65 years) with …