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Full-Text Articles in Nervous System Diseases

Concomitant Diagnoses Of Lymphoma And Pml In An Hiv-Positive Patient, Madelaine Duarte, Delon Altherr, Mohamed Faris Jan 2025

Concomitant Diagnoses Of Lymphoma And Pml In An Hiv-Positive Patient, Madelaine Duarte, Delon Altherr, Mohamed Faris

South Atlantic Division GME Research Day 2025

No abstract provided.


Postoperative Conundrum: Horner Syndrome Secondary To Anterior Cervical Discectomy And Fusion Procedure, Nicholas Mynarski, Sabrina M. Johnson, Aanchal Sawhney, Christine Giesa Do, Rachel Odeyemi Do Dec 2024

Postoperative Conundrum: Horner Syndrome Secondary To Anterior Cervical Discectomy And Fusion Procedure, Nicholas Mynarski, Sabrina M. Johnson, Aanchal Sawhney, Christine Giesa Do, Rachel Odeyemi Do

Transformative Medicine

IntroductionHorner syndrome is a rare complication following anterior cervical discectomy and fusion (ACDF) surgeries, with an incidence rate of

Case DescriptionWe report a case of a 45-year-old female with a history of non-Hodgkin's lymphoma and chronic obstructive pulmonary disease who developed Horner syndrome post-ACDF. Initially admitted for suspected cholecystitis found on imaging following a fall, the patient's clinical course was complicated by worsening cervical and lumbar pain. This prompted MRI evaluation revealing cervical stenosis at C5-C6 and ACDF was performed without intraoperative complications. However, on postoperative day three, the patient developed left eye ptosis and miosis, consistent with …


Oculomotor Nerve Palsy Recovery Following Microsurgery Vs. Endovascular Treatment Of Posterior Communicating Artery Aneurysms: A Comparative Meta-Analysis Of Short- And Long-Term Outcomes, Rahim Abo Kasem, Conor Cunningham, Sameh Samir Elawady, Mohammad Mahdi Sowlat, Sofia Babool, Saad Hulou, Zachary Hubbard, Atakan Orscelik, Basel Musmar, Alejandro Spiotta Dec 2024

Oculomotor Nerve Palsy Recovery Following Microsurgery Vs. Endovascular Treatment Of Posterior Communicating Artery Aneurysms: A Comparative Meta-Analysis Of Short- And Long-Term Outcomes, Rahim Abo Kasem, Conor Cunningham, Sameh Samir Elawady, Mohammad Mahdi Sowlat, Sofia Babool, Saad Hulou, Zachary Hubbard, Atakan Orscelik, Basel Musmar, Alejandro Spiotta

Department of Neurosurgery Faculty Papers

Recent advancements in endovascular treatment (EVT) and different views on optimal management for posterior communicating artery (PComA) aneurysms with oculomotor nerve palsy (ONP) highlight a need to compare recovery timelines between microsurgery and EVT; heterogeneous outcomes and influencing factors may also affect results. A comprehensive systematic review and meta-analysis were conducted by searching PubMed, Embase, Scopus, and Web of Science databases. The extracted data encompassed patient demographics, details on treatment modalities and timing, and characteristics of PComA aneurysms ONP caused by either unruptured or ruptured aneurysms. The primary outcome was ONP favorable recovery, defined as the resolution of admission symptoms, …


Artificial Intelligence-Based Methodologies For Early Diagnostic Precision And Personalized Therapeutic Strategies In Neuro-Ophthalmic And Neurodegenerative Pathologies, Rahul Kumar, Ethan Waisberg, Joshua Ong, Phani Paladugu, Dylan Amiri, Jeremy Saintyl, Jahnavi Yelamanchi, Robert Nahouraii, Ram Jagadeesan, Alireza Tavakkoli Dec 2024

Artificial Intelligence-Based Methodologies For Early Diagnostic Precision And Personalized Therapeutic Strategies In Neuro-Ophthalmic And Neurodegenerative Pathologies, Rahul Kumar, Ethan Waisberg, Joshua Ong, Phani Paladugu, Dylan Amiri, Jeremy Saintyl, Jahnavi Yelamanchi, Robert Nahouraii, Ram Jagadeesan, Alireza Tavakkoli

SKMC Student Presentations and Publications

Advancements in neuroimaging, particularly diffusion magnetic resonance imaging (MRI) techniques and molecular imaging with positron emission tomography (PET), have significantly enhanced the early detection of biomarkers in neurodegenerative and neuro-ophthalmic disorders. These include Alzheimer's disease, Parkinson's disease, multiple sclerosis, neuromyelitis optica, and myelin oligodendrocyte glycoprotein antibody disease. This review highlights the transformative role of advanced diffusion MRI techniques-Neurite Orientation Dispersion and Density Imaging and Diffusion Kurtosis Imaging-in identifying subtle microstructural changes in the brain and visual pathways that precede clinical symptoms. When integrated with artificial intelligence (AI) algorithms, these techniques achieve unprecedented diagnostic precision, facilitating early detection of neurodegeneration and …


The Revised Cdc Chronic Pain Guidelines And Payer Opioid Analgesic Policies In Michigan, Victoria Tutag Lehr, Cynthia L. Arfken Dec 2024

The Revised Cdc Chronic Pain Guidelines And Payer Opioid Analgesic Policies In Michigan, Victoria Tutag Lehr, Cynthia L. Arfken

Michigan Journal of Public Health

Abstract

The 2016 publication of A Guideline for Prescribing Opioids for Chronic Pain by the Centers for Disease Control and Prevention motivated commercial and Medicaid payers to restrict their opioid prescribing policies including the imposition of hard limits on opioid daily dosages and duration. One result of these policies was an increase in abrupt opioid discontinuation and rapid tapering events for patients receiving long-term opioid therapy. Responding to this misapplication of the 2016 guideline, the 2022 revised guidelines emphasized individualized opioid therapy and exclusion of certain chronic diseases. However, it is not known if the payers changed their policies to …


Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb Dec 2024

Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb

School of Medicine Faculty Publications

BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting. OBSERVATIONS The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms. LESSONS Unilateral hemicraniectomy with titanium cranioplasty is a feasible surgical treatment for CED in pediatric patients with medically refractory increased ICP and papilledema.


Training Staff Members And Caregivers On Utilizing Allen Cognitive Levels To Aid Individuals Living With Alzheimer's And Dementia To Maintain Activities Of Daily Living, Kristy Boyd, Cassandra Nelson, Jennifer Summers Dec 2024

Training Staff Members And Caregivers On Utilizing Allen Cognitive Levels To Aid Individuals Living With Alzheimer's And Dementia To Maintain Activities Of Daily Living, Kristy Boyd, Cassandra Nelson, Jennifer Summers

Fall 2024 OTD Capstone Symposium

This capstone project is about training staff members and caregivers on utilizing the Allen's cognitive levels to aid individuals living with Alzheimer's and dementia to maintain their activities of daily living by creating a program that consists of modules, physical demonstration, and a deliverable for staff members and caregivers as well as therapeutic activities and sensory regulation activities for the participants.


Review Of The Diagnosis, Pathophysiology, And Treatment Of Naegleria Fowleri-Induced Primary Amoebic Meningoencephalitis, Terrance Zhang Dec 2024

Review Of The Diagnosis, Pathophysiology, And Treatment Of Naegleria Fowleri-Induced Primary Amoebic Meningoencephalitis, Terrance Zhang

MCB Articles

Naegleria fowleri is a thermophilic, ubiquitous, free-living amoeba, but is also known as the “brain-eating” amoeba. This is the etiological agent of a rare and fulminant waterborne disease known as Primary Amoebic Meningoencephalitis (PAM) that is acutely fatal in 90-99% of reported cases. Those who come into contact with infested waters are at risk of introducing the amoeba into their upper nasal canal, whence the trophozoite form is known to migrate along the olfactory nerve, through the cribriform plate, and enter the central nervous system. Although the exact pathogenesis of N. fowleri is not known, studies have demonstrated contact-dependent and …


Ansa Cervicalis-To-Phrenic Nerve Transfer: Technical Note With Potential Application For Diaphragmatic Reanimation In Patients With High Cervical Spinal Cord Injury, Jonathan Melnick, Mohammadali M. Shoja, Gary B. Schwartz Nov 2024

Ansa Cervicalis-To-Phrenic Nerve Transfer: Technical Note With Potential Application For Diaphragmatic Reanimation In Patients With High Cervical Spinal Cord Injury, Jonathan Melnick, Mohammadali M. Shoja, Gary B. Schwartz

HCA-NSU MD Research Day

Objective. This study was conducted to determine whether utilization of the superior root of ansa cervicalis (SRAC) as the donor for phrenic nerve (PN) transfer is technically feasible. Background. In patients with high cervical spinal cord injury resulting in diaphragmatic paralysis, another donor, the spinal accessory nerve, has been used successfully to reinnervate the PN and restore diaphragmatic function. Methods. Eight neck sides underwent cadaveric surgery. The sternocleidomastoid muscle was retracted posteriorly, the SRAC and PN were isolated, and the SRAC was cut near its distal end and transposed to the ipsilateral PN as it crossed the anterior scalene muscle. …


Transcutaneous Electrical Nerve Stimulation For Fibromyalgia-Like Syndrome In Patients With Long-Covid: A Pilot Randomized Clinical Trial, Alejandro Zulbaran-Rojas, Rasha O Bara, Myeounggon Lee, Miguel Bargas-Ochoa, Tina Phan, Manuel Pacheco, Areli Flores Camargo, Syed Murtaza Kazmi, Mohammad Dehghan Rouzi, Dipaben Modi, Fidaa Shaib, Bijan Najafi Nov 2024

Transcutaneous Electrical Nerve Stimulation For Fibromyalgia-Like Syndrome In Patients With Long-Covid: A Pilot Randomized Clinical Trial, Alejandro Zulbaran-Rojas, Rasha O Bara, Myeounggon Lee, Miguel Bargas-Ochoa, Tina Phan, Manuel Pacheco, Areli Flores Camargo, Syed Murtaza Kazmi, Mohammad Dehghan Rouzi, Dipaben Modi, Fidaa Shaib, Bijan Najafi

Faculty, Staff and Students Publications

This study investigated the effect of Transcutaneous Electrical Nerve Stimulation (TENS) for fibromyalgia-like symptoms including chronic widespread musculoskeletal pain, fatigue, and/or gait impairment in twenty-five individuals with long-COVID. Participants were randomized to a high dose (intervention group, IG) or low dose (placebo group, PG) TENS device. Both groups received daily 3-5 h of TENS therapy for 4-weeks. The Brief Pain Inventory assessed functional interference from pain (BPI-I), and pain severity (BPI-S). The global fatigue index (GFI) assessed functional interference from fatigue. Wearable technology measured gait parameters during three 30-feet consecutive walking tasks. At 4-weeks, the IG exhibited a greater decrease …


Left, Then Right Internal Carotid Artery Dissection: A Case Report, Jeffrey M. Kalczynski, John Douds, Michael E. Silverman Nov 2024

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 Nov 2024

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.


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 Oct 2024

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 Oct 2024

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 …


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 Sep 2024

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: …


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 Sep 2024

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 …


A Genome-Wide Association Meta-Analysis Of All-Cause And Vascular Dementia, Mega Vascular Cognitive Impairment And Dementia (Megavcid) Consortium Sep 2024

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 Aug 2024

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 Aug 2024

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 Aug 2024

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 Aug 2024

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 …


Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang Aug 2024

Absence Of Motor Impairments Or Pathological Changes In Tmem230 Knockout Rats, Wenjuan Zhang, Hao Peng, Daihe Yang, Guohua Song, Juan He, Yun Zhou, Cao Huang, Bo Huang

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Parkinson's disease (PD), which is the second most common neurodegenerative disorder, is characterized by progressive movement impairment and loss of midbrain dopaminergic neurons in the substantia nigra. Although mutations in TMEM230 are linked to familial PD, the pathogenic mechanism underlying TMEM230-associated PD remains to be elucidated. To explore the effect of TMEM230 depletion in vivo, we created TMEM230 knockout rats using CRISPR-Cas9 technology. TMEM230 knockout rats did not exhibit any core features of PD, including impaired motor function, loss of dopaminergic neurons in the substantia nigra, or altered expression of proteins related to autophagy, the Rab family, or vesicular trafficking. …


Trends In Central Nervous System-Active Polypharmacy Among People With Multiple Sclerosis, Hayden Naizer, Joseph Wozny, Trudy Millard Krause, Ethan Huson, Leorah Freeman Aug 2024

Trends In Central Nervous System-Active Polypharmacy Among People With Multiple Sclerosis, Hayden Naizer, Joseph Wozny, Trudy Millard Krause, Ethan Huson, Leorah Freeman

Faculty, Staff and Student Publications

BACKGROUND: People with multiple sclerosis (pwMS) are at risk of concurrently using multiple central nervous system (CNS)-active drugs, yet the prevalence of CNS-active polypharmacy remains unmeasured in pwMS.

OBJECTIVE: The objective is to measure the prevalence of CNS-active polypharmacy in pwMS.

METHODS: This serial, cross-sectional study measured CNS-active polypharmacy in people with MS in the United States from 2008 to 2021 using insurance claims data. CNS-active polypharmacy was defined as the concurrent prescription of ⩾3 CNS-active drugs for >30 continuous days. CNS-active drugs included antidepressants, antiepileptics, antipsychotics, benzodiazepines, nonbenzodiazepine benzodiazepine receptor agonist hypnotics, opioids, and skeletal muscle relaxants.

RESULTS: The …


Self-Harm In Female Youth With Undiagnosed Adhd: Implementing American Academy Of Pediatrics Screening Guidelines, Roselie M. Woodard Jul 2024

Self-Harm In Female Youth With Undiagnosed Adhd: Implementing American Academy Of Pediatrics Screening Guidelines, Roselie M. Woodard

Dissertations

Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity. If undiagnosed or untreated, ADHD can lead to severe psychosocial issues such as academic failure, substance abuse, unplanned pregnancy, and incarceration. The financial burden in the U.S. from diagnostic errors creates an immense, rising fiscal impact. Early diagnosis and management are crucial to prevent these complications.

Females with ADHD, particularly those with the inattentive subtype, often face diagnostic challenges due to symptom masking and over-compensation. This results in poorer cognitive functioning and self-esteem compared to males with ADHD. ADHD is linked to autonomic nervous …


Apomorphine Titration With And Without Anti-Emetic Pretreatment In Patients With Parkinson’S Disease Experiencing Off Episodes: A Modified Delphi Panel, Stuart H. Isaacson, Richard Dewey, Robert A. Hauser, Daniel Kremens, Rajeev Kumar, Mark Lew, William Ondo, Fernando Pagan, Kelly E. Lyons, Rajesh Pahwa Jul 2024

Apomorphine Titration With And Without Anti-Emetic Pretreatment In Patients With Parkinson’S Disease Experiencing Off Episodes: A Modified Delphi Panel, Stuart H. Isaacson, Richard Dewey, Robert A. Hauser, Daniel Kremens, Rajeev Kumar, Mark Lew, William Ondo, Fernando Pagan, Kelly E. Lyons, Rajesh Pahwa

Department of Neurology Faculty Papers

INTRODUCTION: In the United States (US), prophylactic treatment with the antiemetic trimethobenzamide has been used before initiating apomorphine therapy. However, US trimethobenzamide stores have been depleted, leaving uncertainty regarding whether antiemetic pretreatment is needed.

METHODS: This modified Delphi panel aimed to inform circumstances when apomorphine is initiated without antiemetic pretreatment. During Round 1, a panel of 9 US movement disorder specialists rated the appropriateness of prescribing apomorphine therapy with and without antiemetic pretreatment across 192 patient scenarios and were able to review their scores in relation to other scores. During the Round 2, consensus was defined for each scenario as …


Magnetic Resonance Imaging Signs Of Idiopathic Intracranial Hypertension, Dagmar Beier, Johanne Juhl Korsbæk, Gabriel Bsteh, Stefan Macher, Wolfgang Marik, Berthold Pemp, Hsiangkuo Yuan, Areeba Nisar, Lisbeth Høgedal, Laleh Dehghani Molander, Snorre Malm Hagen, Christoph Patrick Beier, Simon Bang Kristensen, Rigmor Højland Jensen Jul 2024

Magnetic Resonance Imaging Signs Of Idiopathic Intracranial Hypertension, Dagmar Beier, Johanne Juhl Korsbæk, Gabriel Bsteh, Stefan Macher, Wolfgang Marik, Berthold Pemp, Hsiangkuo Yuan, Areeba Nisar, Lisbeth Høgedal, Laleh Dehghani Molander, Snorre Malm Hagen, Christoph Patrick Beier, Simon Bang Kristensen, Rigmor Højland Jensen

Department of Neurology Faculty Papers

IMPORTANCE: The magnetic resonance imaging (MRI) criteria currently used to diagnose idiopathic intracranial hypertension (IIH) are based on expert opinion and have limited accuracy. Additional neuroimaging signs have been proposed and used with contradictory results; thus, prospective evidence is needed to improve diagnostic accuracy.

OBJECTIVE: To provide evidence-based, accurate MRI signs for IIH diagnosis.

DESIGN, SETTING, AND PARTICIPANTS: This prospective cohort study was conducted from January 2018 to May 2021 with 3 validation cohorts at 2 Danish headache centers and with 3 independent international cohorts. Consecutive patients with suspected IIH were enrolled. Eligibility required the clinical suspicion of IIH, age …


Subpial Resection Of Epileptogenic Tubers: Operative Nuances And Lessons Learned, Nisha Giridharan, Collin W English, Marcus Wong, Howard L Weiner Jul 2024

Subpial Resection Of Epileptogenic Tubers: Operative Nuances And Lessons Learned, Nisha Giridharan, Collin W English, Marcus Wong, Howard L Weiner

Faculty, Staff and Students Publications

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder. Tubers of the central nervous system are a hallmark of the disorder and often cause epilepsy. Many TSC patients fail to achieve seizure control with medication alone. Several case series have demonstrated high seizure freedom rates after resective surgery. However, the technique for the resection of epileptogenic tubers has largely been unreported. Here the authors present 2 cases to illustrate their multistage approach for localizing and resecting the seizure onset zone in patients with TSC. At their institution, they have excellent seizure outcomes and a low complication rate with this …


Riluzole For Degenerative Cervical Myelopathy: A Secondary Analysis Of The Csm-Protect Trial, Michael G. Fehlings, Karlo M. Pedro, Mohammed Ali Alvi, Jetan H. Badhiwala, Henry Ahn, H. Francis Farhadi, Christopher I. Shaffrey, Ahmad Nassr, Praveen Mummaneni, Paul M. Arnold, Bradley Jacobs, K. Daniel Riew, Michael Kelly, Darrel S. Brodke, Alexander R. Vaccaro, Alan S. Hilibrand, Jason Wilson, James S. Harrop, S. Timm Yoon, Kee D. Kim, Daryl R. Fourney, Carlo Santaguida, Eric M. Massicotte, Peng Huang Jun 2024

Riluzole For Degenerative Cervical Myelopathy: A Secondary Analysis Of The Csm-Protect Trial, Michael G. Fehlings, Karlo M. Pedro, Mohammed Ali Alvi, Jetan H. Badhiwala, Henry Ahn, H. Francis Farhadi, Christopher I. Shaffrey, Ahmad Nassr, Praveen Mummaneni, Paul M. Arnold, Bradley Jacobs, K. Daniel Riew, Michael Kelly, Darrel S. Brodke, Alexander R. Vaccaro, Alan S. Hilibrand, Jason Wilson, James S. Harrop, S. Timm Yoon, Kee D. Kim, Daryl R. Fourney, Carlo Santaguida, Eric M. Massicotte, Peng Huang

School of Medicine Faculty Publications

Importance: The modified Japanese Orthopaedic Association (mJOA) scale is the most common scale used to represent outcomes of degenerative cervical myelopathy (DCM); however, it lacks consideration for neck pain scores and neglects the multidimensional aspect of recovery after surgery. Objective: To use a global statistical approach that incorporates assessments of multiple outcomes to reassess the efficacy of riluzole in patients undergoing spinal surgery for DCM. Design, Setting, and Participants: This was a secondary analysis of prespecified secondary end points within the Efficacy of Riluzole in Surgical Treatment for Cervical Spondylotic Myelopathy (CSM-PROTECT) trial, a multicenter, double-blind, phase 3 randomized clinical …


Feasibility Of Achieving Nutritional Adequacy In Critically Ill Children With Critical Neurological Illnesses (Cnis)?-A Quaternary Hospital Experience, Marwa Mansour, Nicole Knebusch, Jennifer Daughtry, Thomas P Fogarty, Fong Wilson Lam, Renan A Orellana, Yi-Chen Lai, Jennifer Erklauer, Jorge A Coss-Bu Jun 2024

Feasibility Of Achieving Nutritional Adequacy In Critically Ill Children With Critical Neurological Illnesses (Cnis)?-A Quaternary Hospital Experience, Marwa Mansour, Nicole Knebusch, Jennifer Daughtry, Thomas P Fogarty, Fong Wilson Lam, Renan A Orellana, Yi-Chen Lai, Jennifer Erklauer, Jorge A Coss-Bu

Faculty, Staff and Students Publications

The literature on the nutritional needs and outcomes of critically ill children is scarce, especially on those with critical neurological illnesses (CNIs). Current evidence shows a lower mortality in patients who achieve two-thirds of their nutritional needs during the first week of pediatric intensive care unit (PICU) admission. We hypothesized that achieving 60% of the recommended dietary intake during the first week of a PICU stay is not feasible in patients with CNI. We designed an observational retrospective cohort study where we included all index admissions to the PICU in our institution of children (1 month to 18 years) with …


Perturbations In Risk/Reward Decision Making And Frontal Cortical Catecholamine Regulation Induced By Mild Traumatic Brain Injury, Christopher P Knapp, Eleni Papadopoulos, Jessica A Loweth, Ramesh Raghupathi, Stan B Floresco, Barry D Waterhouse, Rachel L Navarra Jun 2024

Perturbations In Risk/Reward Decision Making And Frontal Cortical Catecholamine Regulation Induced By Mild Traumatic Brain Injury, Christopher P Knapp, Eleni Papadopoulos, Jessica A Loweth, Ramesh Raghupathi, Stan B Floresco, Barry D Waterhouse, Rachel L Navarra

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Mild traumatic brain injury (mTBI) disrupts cognitive processes that influence risk taking behavior. Little is known regarding the effects of repetitive mild injury (rmTBI) or whether these outcomes are sex specific. Risk/reward decision making is mediated by the prefrontal cortex (PFC), which is densely innervated by catecholaminergic fibers. Aberrant PFC catecholamine activity has been documented following TBI and may underlie TBI-induced risky behavior. The present study characterized the effects of rmTBI on risk/reward decision making behavior and catecholamine transmitter regulatory proteins within the PFC. Rats were exposed to sham, single (smTBI), or three closed-head controlled cortical impact (CH-CCI) injuries and …