Nervous System Diseases Commons^™

Transient Neuromonitoring Changes And Delayed Vertebrobasilar Infarction Following Anterior Cervical Discectomy And Fusion: Illustrative Case, Jacob M. Chaisson, Jack A. Leoni, Ellery A. Hayden, Gabriel C. Tender, Amit K. Bhandutia

School of Medicine Faculty Publications

BACKGROUND: Anterior cervical discectomy and fusion (ACDF) is a common spinal procedure with a well-established safety profile. While direct vertebral artery injury is rare and typically recognized intraoperatively, delayed posterior circulation stroke is an even less common but major complication. In patients with risk factors for vascular disease, vascular stress from surgical manipulation may predispose them to thromboembolic events that are not immediately apparent. Transient intraoperative neuromonitoring (IONM) changes may represent early, underrecognized indicators of such vascular compromise. OBSERVATIONS: The authors present the case of a 61-year-old male who underwent elective three-level ACDF for degenerative cervical myelopathy. During cage placement, …

Comprehensive Analysis Platform To Understand, Remedy, And Eliminate Amyotrophic Lateral Sclerosis (Capture Als): Study Protocol For A Canadian Multicenter, Multimodal, Longitudinal Observational Study, Natalie Saunders, Claire Magnussen, Hyungmo Kang, Mathieu Blais, Harpreet Bhinder, Gerald Pfeffer, Shelagh K. Genuis, Liziane Bouvier, Tanushka Anand, Tania M. Bubela

Office of the Provost

Background: The marked heterogeneity of Amyotrophic Lateral Sclerosis (ALS) combined with a lack of biomarkers are key contributing factors to the lack of disease-modifying treatments. The Comprehensive Analysis Platform to Understand Remedy and Eliminate ALS (CAPTURE ALS) is a Canadian platform designed to create the most comprehensive picture of people living with ALS with the objective of facilitating ALS research initiatives worldwide.
Objectives: The main aims of CAPTURE ALS include: (1) to characterize ALS and healthy controls with biosamples and data in order to provide the most comprehensive picture of individuals living with ALS to date; (2) to create a …

The Mechanism Of Action Of Remote Electrical Neuromodulation (Ren) In Treating Migraine And Potentially Other Idiopathic Pain Conditions, Marius Birlea, Christopher L. Robinson, Eden Mama, Alit Stark-Inbar, Alon Ironi, Daniel Atashsokhan, Thomas Berk

College of Nursing Faculty Papers & Presentations

Purpose of Review

This review provides evidence for the mechanism of action (MOA) of Remote Electrical Neuromodulation (REN), a non-pharmacological therapeutic technology for treating migraine and other symptoms manifested by certain idiopathic pain diseases. It discusses the main physiological and anatomical aspects associated with conditioned pain modulation (CPM), and how REN is applied for the treatment of migraine pain and other symptoms.

Recent Findings

The REN wearable device (Nerivio®) is FDA cleared for acute and preventive treatment of migraine in patients aged 8 years and above, and CE marked in patients aged 12 and above. In brief, the REN MOA …

Diurnal Behavioral Outcomes And Bbb Integrity In Adult Male Shr And Wky Rats, Pallavi Shrivastava, Oluchukwu D. Biose, Riya Dahal, Abdallah Jwayyed, Rukayat A. Raji, Huijing Xia, Eric Lazartigues, Ifechukwude J. Biose

School of Graduate Studies Faculty Publications

Day and night neurobehavioral tests were performed for Spontaneously Hypertensive rats (SHR) and Wistar Kyoto rats (WKY) to establish an optimal testing window. Also, blood–brain barrier (BBB) integrity in brain areas related to cognition was measured to determine strain-specific differences. Six months old male SHR and WKY were randomly divided into day (i.e., 9–11 a.m.) and nighttime (i.e., 7–9 p.m.) testing regimen. Neurobehavioral tests included: Y-maze spontaneous alternation, open field, novel object recognition (NOR), and tail suspension test (TST). BBB integrity was measured in the cortex, hippocampus and striatum. WKY showed higher recognition memory at night compared to SHR and …

Promising Effects Of Car T-Cell Therapy In Refractory Stiff Person Syndrome And A Hopeful Future For All Neuroautoimmunities, Marinos Dalakas

Department of Neurology Faculty Papers

Chimeric antigen receptor (CAR) T cells are genetically modified T cells expressing CARs, initially developed to recognize tumor antigens and kill cancer cells that evade T-cell recognition. Because of their impressive success in hemato-oncologic malignancies, CAR T cells are being repurposed with redesigned constructs for safety and sustained efficacy to target refractory systemic autoimmune or neurologic diseases. The CD19 CAR T cells-targeting those CD19-positive, antibody-secreting, long-lived plasma cells, and plasmablasts-are now extensively explored in refractory neuroautoimmunities with promising benefits based on case series in patients with myasthenia gravis (MG), stiff person syndrome (SPS), neuromyelitis, myositis, and multiple sclerosis; some patients …

Botulinum Toxin In Stiff Person Syndrome: How Useful Is It In Helping Muscle Stiffness And Spasms?, Marinos Dalakas

Department of Neurology Faculty Papers

No abstract provided.

Cerebellar Dysfunction In Glaucoma Patients, Anisha Kasi, Ji Won Bang, Vivek Trivedi, Jeannie Au, Ian Conner, Gadi Wollstein, Joel Schuman, Rakie Cham, Kevin Chan

Wills Eye Hospital Papers

Glaucoma patients often have higher injurious fall rates compared to healthy older adults. However, little is known about the underlying neural mechanisms. Recent evidence shows cerebral changes beyond the visual pathway of glaucoma patients, yet it remains unclear whether the cerebellum, which plays an important role in balance and motor control, is involved in glaucoma. In this study, we sought to investigate cerebellar functional connectivity changes in glaucoma by comparing 32 glaucoma subjects and 10 age-matched healthy control subjects who underwent resting-state functional magnetic resonance imaging at 3 Tesla with eyes closed. After conducting both regions-of-interest and seed-to-voxel analyses, we …

The Importance Of Treating Migraine Attacks Early - Even In Youth: A Real-World Argument For Neuromodulation, Mario F. P. Peres, Hsiangkuo Yuan, Cristina Tassorelli

Department of Jefferson Headache Center Papers and Presentations

No abstract provided.

Septic Arthritis And Abscess Of The Temporomandibular Joint, Frank Rizzuto, Abdul Khan, Jagan D. Gupta, Neel D. Gupta, Triet M. Do, Enrique Palacios

School of Medicine Faculty Publications

No abstract provided.

Clinical Utility Of Diffusion Tensor Imaging In Sport-Related Concussion: A Systematic Review, Shiv Patil, Rithvik Kata, Serhat Aydin, Mert Karabacak, Konstantinos Margetis, Sotirios Bisdas

Student Papers, Posters & Projects

OBJECTIVE: Sport-related concussion (SRC) is a prevalent form of traumatic brain injury that is associated with long-term neurological and psychiatric impairment, particularly among athletes with a history of repetitive concussions. The biological variability of SRC's impact on the brain, as well as a lack of objective biomarkers to diagnose and prognosticate concussion, has prompted interest in advanced neuroimaging methods such as diffusion tensor imaging (DTI). By measuring disruptions in water diffusivity due to head trauma, DTI can detect alterations in white matter integrity that are not visualized by conventional imaging methods. This systematic review aims to synthesize major trends and …

International Headache Society Evidence-Based Guidelines On The Use Of Non-Invasive Neuromodulation Devices For The Acute And Preventive Treatment Of Migraine, Hsiangkuo Yuan, Serena L. Orr, Mohammad A. M. Al-Karagholi, Messoud Ashina, Fred Cohen, Hans-Christoph Diener, David W. Dodick, Rigmor Højland Jensen, Michael J. Marmura, Daniele Martinelli, Manjit S. Matharu, Anja S. Petersen, Patricia Pozo-Rosich, Simona Sacco, Lucy Simmonds, Cristina Tassorelli, Stewart J. Tepper, Gisela M. Terwindt, Shuu-Jiun Wang, Jiunn-Tyng Yeh, Stephen D. Silberstein

Department of Jefferson Headache Center Papers and Presentations

ObjectiveTo develop evidence-based clinical practice guidelines for non-invasive neuromodulation devices in acute and preventive migraine treatment.MethodsA systematic review was conducted across six databases from 1946 to April 2025. Randomized controlled trials evaluating Food and Drug Administration-cleared or Conformité Européenne (CE)-marked non-invasive neuromodulation devices were included. The quality of evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology, and recommendations were developed through consensus following GRADE Evidence-to-Decision frameworks. The working group comprised 15 senior members and six junior members.ResultsFrom 1536 initial records, 15 studies met the inclusion criteria and were finally used to develop evidence-based recommendations. …

Migraine-Related Disability According To Headache Frequency Subclassifications: A Systematic Review And Meta-Analysis, Manjit Singh Matharu, Stephen Silberstein, Hsiangkuo Yuan, Deborah Edgar, Roos Colman, Todd Schwedt, Michel Lanteri-Minet, Mark Obermann

Department of Jefferson Headache Center Papers and Presentations

BackgroundThis systematic review and meta-analysis synthesized migraine-related disability outcomes according to headache frequency subclassifications, including low-frequency episodic migraine (LFEM), high-frequency episodic migraine (HFEM) and chronic migraine (CM).MethodsWe searched the PubMed and Cochrane Library (CENTRAL) up to 16 October 2024 for peer-reviewed non-interventional studies reporting migraine-related disability outcomes in CM and subclassifications of episodic migraine (e.g. LFEM and HFEM). Eligible studies with an HFEM subgroup were grouped by headache frequency measure (monthly migraine days [MMD] or monthly headache days [MHD]), HFEM subgroup, disability parameter and study setting. Random-effects meta-analyses were conducted on groups with three or more studies, with the results …

Neurofilament Light (Nfl) Chain Levels Predict Clinical Decline In Alzheimer’S Disease: A Systematic Review And Meta-Analysis, Kim Thomas, Paul Spin, Nikita Sir, Kevin Hou, Nicholas J. Ashton, Henrik Zetterberg, Sonya Miller, Carol Pringle, Richard G. Stefanacci, Claude M. Wischik, Serge Gauthier

College of Population Health Faculty Papers

BACKGROUND: Regulatory approval of new investigational Alzheimer's disease (AD) therapies could be accelerated if reasonably likely surrogate endpoints could be used. Neurofilament light chain (NfL) has potential utility as a prognostic biomarker of neurodegeneration in AD.

OBJECTIVE: To synthesize available evidence on the relationship between baseline NfL levels and longitudinal clinical decline.

METHODS: A systematic literature review identified 19 eligible studies, contributing 37 longitudinal statistical models evaluating the association between baseline NfL (plasma or cerebrospinal fluid [CSF]) with subsequent clinical decline based on validated clinical scales including Mini-Mental State Examination (MMSE), Alzheimer's Disease Assessment Scale-Cognitive Subscale, and Clinical Dementia Rating. …

Ocular Blood Flow And Retinal Vascular Reactivity In Alzheimer’S Disease: A Systematic Review Of Retinal Images, Tori Sayers, Alexa Nichols, Amin Ibrahim, Igor Zwir, Andrew Tsin, Lorena Flores-Hernandez, Gladys E. Maestre, Jesus D. Melgarejo

Research Colloquium

Background: Alzheimer’s disease (AD) is the most common form of dementia and one of the leading causes of disability and death in the United States¹. Research efforts aim to identify pathological changes that may help support earlier detection of AD and lead to more accessible tools for monitoring disease progression². The retina is being explored as a potential non-invasive marker of AD, reflecting the shared embryology and microvasculature features between the retina and the brain. Although research has focused on structural changes in retinal vessel diameters and density, few studies have evaluated functional markers of retinal …

Wernicke’S Encephalopathy With Classic Triad And Normal Mri In A Young Woman Following Rapid-Sequence Bariatric And Biliary Surgery, Hugo Zamarron, Nina Mourao, Roberto A. Cruz Saldana

Research Colloquium

Background: Wernicke’s encephalopathy is a life-threatening neurological disorder caused by thiamine deficiency, most commonly associated with alcoholism. However, postoperative nutritional deficiencies in young patients undergoing bariatric procedures are increasingly recognized. This case is unique due to the rapid succession of bariatric and cholecystectomy surgeries, development of classic Wernicke’s symptoms with a normal MRI, and diagnostic delay due to overlapping differential diagnoses including intracranial hypotension and myelopathy.

Case Presentation: A 22-year-old woman with class III obesity underwent sleeve gastrectomy in July 2022, followed by significant weight loss and persistent intractable vomiting. Due to suspected gallbladder disease, she underwent a cholecystectomy in …

Corticobasal Syndrome With Mixed Pathology In The Absence Of Grn Mutation: A Clinico-Pathological Case Of Ftld-Tdp With Coexisting Alzheimer’S And Lewy Body Pathology, Hugo Zamarron, David Irwin, Jeffery Phillips, Edward Lee, Matthew Tisdall, Corey Mcmillan

Research Colloquium

Background: Corticobasal syndrome (CBS) is a neurodegenerative disorder characterized by often asymmetric fronto-pariteal and extra-pyramidal features that is traditionally associated with tauopathy, but pathological findings are heterogenous, including other forms of frontotemporal lobar degeneration (FTLD) and mixed pathologies of aging. We present clinical, radiographic, and histopathologic features of asymmetry in a unique patient with CBS and underlying FTLD with TDP-43 pathology (FTLD-TDP), co-occurring with other age-related pathologies.

Case Presentation: A 76-year-old man presented with progressive cognitive and motor dysfunction including asymmetric parkinsonism, left-sided dystonia and rigidity, apraxia, visuospatial impairment, and a subtle social disorder including apathy and social withdrawal. The …

Bilateral Small Vessel Strokes In A Young Male With Coccidioidal Meningitis And Suspected Cns Vasculitis, Hugo Zamarron, Ahsan Ali

Research Colloquium

Background: Cerebral small vessel strokes in young, otherwise healthy adults without traditional vascular risk factors are rare and warrant further investigation. Central nervous system (CNS) vasculitis is an uncommon etiology that may be triggered by infections, including fungal pathogens. This case is notable for a suspected primary CNS vasculitis manifesting as bilateral deep infarcts in the setting of Coccidioidal meningitis. It highlights the importance of considering fungal infections and vasculitis in the differential diagnosis of stroke in younger patients.

Case Presentation: A 32-year-old previously healthy male presented with fever, headache, and was diagnosed with aseptic meningitis. He was later readmitted …

Early Blood Pressure Targets In Acute Spinal Cord Injury: A Randomized Clinical Trial, Ruba Sajdeya, N. David Yanez, Michael Kampp, Michael D. Goodman, David Zonies, Brandon Togioka, Andrew Nunn, Robert D. Winfield, Niels D. Martin, Anirudh Kohli, Toan T. Huynh, David O. Okonkwo, Roy A. Poblete, Emily J. Gilmore, Randall M. Chesnut, Aaron E. Bunnell, Tetsu Ohnuma, Mona Hashemaghaie, Miriam M. Treggiari

Department of Surgery Faculty Papers

IMPORTANCE: Early blood pressure management is central to neurologic resuscitation of spinal cord injury; however, the role of augmented blood pressure is unclear.

OBJECTIVE: To compare the efficacy and safety of augmented vs conventional blood pressure on 6-month neurologic outcomes after acute spinal cord injury.

DESIGN, SETTING, AND PARTICIPANTS: This multicenter randomized clinical trial took place from October 3, 2017, to July 26, 2023, and assessed patients 18 years or older with spinal cord injury followed up for 6 months at 13 large US trauma centers.

INTERVENTIONS: Patients were equally randomized to augmented (>85-90 mm Hg) or conventional ( …

A Single Center Study Of The Symbol Digit Modalities Test As A Screening Tool For Cognitive Impairment In Parkinson’S Disease, Daniyell Thomason, Morganne Manuel, Shannin Moody, Jesus Lovera, Brain Copeland, Deidre Devier

School of Medicine Faculty Publications

Background: Parkinson’s Disease (PD) can include physical signs and possibly cognitive impairment, resulting from the convergence of pathologicalprocesses involving dopaminergic dysfunction, accumulation ofalpha-synuclein, cholinergic deficits, and disruption of otherneurotransmitter systems. We used screening tests to evaluate thecharacteristics of cognitive performance in patients with PD and to assess their validity compared tothe Montreal Cognitive Assessment (MoCA). Methods: This is a natural history study of participants with PD and controls screened for possible cognitive impairment using the MoCA, Symbol Digit Modalities Test (SDMT), and King-Devick (KD). The groups were compared on performance and then factors associated with cognitive performance (age, diagnosis, and …

Reaching International Consensus On The Definition Of Refractory Migraine Using The Delphi Method, Jennifer Robblee, Fawad A. Khan, Michael J. Marmura, Hope L. O'Brien, Lawrence D. Robbins, Marielle K. Samaha, Morris Levin, Simona Sacco, Raffaele Ornello, Stephanie J. Nahas, Heike Hesse, Annika Ehrlich, Adam S. Sprouse-Blum, Christina Sun-Edelstein, Bronwyn Jenkins, Elizabeth K, Seng, Shivang Joshi, Meredith J. Barad, Mi Ji Lee, Sheena K. Aurora, Mario Fernando Prieto Peres

Department of Neurology Faculty Papers

Aim: Despite its frequency in tertiary headache centers, the International Classification of Headache Disorders, 3rd edition (ICHD-3) does not include refractory migraine. Multiple definitions have been proposed with a recent 2020 proposal for both refractory migraine and resistant migraine by the European Headache Federation (EHF). The aim is to reach an international consensus on the definition of refractory migraine.

Methods: This study is a Delphi consensus carried out by a group of international experts in headache medicine. Following a focus group, a panel of 20 experts and one facilitator reviewed the EHF proposed criteria to build upon their definitions. The …

High Energy Consumption Characterizes Abnormal Brain State Transitions In Temporal Lobe Epilepsy, Sam S. Javidi, Qirui Zhang, Ankeeta Ankeeta, Michael R. Sperling, Joseph I. Tracy

Farber Institute for Neuroscience Faculty Papers

Temporal lobe epilepsy (TLE) patients experience shifts between non-seizing and seizing brain states, but the structural networks underlying these transitions remain undefined and poorly characterized. We detected dynamic brain states in resting-state fMRI and constructed linked structural networks utilizing multi-shell diffusion-weighted MR data. Leveraging network control theory, we interrogated the structural data for all possible brain state transitions, identifying those requiring abnormal levels of transition energy (low or high) in TLE compared to matched healthy participants (n's = 25). Results revealed three transitions requiring significantly higher energy in TLE; no abnormally low-energy transitions were observed. In HPs, transitions relied on …

The 9th Annual Lafora Science Symposium: A Rare Epilepsy Community Makes Progress Towards Clinical Readiness, Meredith I. Williams, Katherine J. Donahue, Pascual Sanz, Souad Messahel, Jose M. Serratosa, Jordi Duran, Roberto Michelucci, Lorenzo Muccioli, Antonio Delgado-Escueta, Viet-Hong Nguyen, Berge A. Minassian, Matthew S. Gentry

Pharmacy Faculty Articles and Research

Lafora disease (LD) is a fatal childhood progressive myoclonus epilepsy and glycogen storage disease that is caused by recessive mutations in either EPM2A or EPM2B. The hallmarks of LD are cytoplasmic, aberrant glycogen-like aggregates, called Lafora bodies (LBs), that drive disease progression. The 9th Annual Lafora Science Symposium was held in San Diego, California and brought together over 70 researchers, clinicians, academic trainees, and friends and family members of patients with LD and 80 attendees joined virtually. This symposium focused primarily on international collaborations for therapeutic development and biomarker identification and strategies for preparing the Lafora community for upcoming …

Efficacy Of Submuscular Transposition For Revision Cubital Tunnel Release: Comparative Outcomes Analysis, Joshua Riklan, Alexzandra Mattia, Markos Mardourian, Harvey Chim

School of Medicine Faculty Publications

Purpose: To assess outcomes after revision cubital tunnel release and submuscular transposition and compare these to a cohort of patients undergoing primary release with in situ decompression. Methods: Patients who underwent revision cubital tunnel release and submuscular transposition (n = 16) were enrolled. Mean follow-up was 21.4 months (range 12.8–55.6). Patients were evaluated in person using the Michigan Hand Outcomes Questionnaire (MHQ) and Disabilities of the Arm, Shoulder and Hand (DASH). Dellon stage, McGowan grade, visual analog scale for pain, and improvement of symptoms using the Messina's criteria and Modified Bishop score were assessed. Comparative analysis was performed with a …

Clinical Outcomes Following Endoscopic Carpal Tunnel Release With The Arthrex Nanoscopic Release System-A Single Surgeon Experience, Sina Ramtin, Asif M. Ilyas

Department of Orthopaedic Surgery Faculty Papers

PURPOSE: Endoscopic carpal tunnel release (ECTR) is a minimally invasive alternative to open release, offering faster recovery and reduced postoperative discomfort. The Arthrex NanoScopic ECTR system, a novel single-use device using chip-on-tip digital imaging and designed for use under local anesthesia without arthroscopic equipment, may further streamline care and expand surgical access.

METHODS: A retrospective review was conducted of the first 50 consecutive ECTR procedures performed using the Arthrex NanoScopic system by a single hand fellowship-trained hand surgeon. All procedures were completed under wide-awake local anesthesia no tourniquet technique in an outpatient surgical center. Outcomes included operative times, adverse events, …

Immediate-Use Rescue Medication And The Epilepsy Monitoring Unit: Experiences From An Expert Panel, Evelyn K. Shih, Brin E. Freund, Michael R. Sperling, Danielle A. Becker, Proleta Datta, Sandra Dewar, Edward Faught, Tracy Glauser, R. Edward Hogan, Randa Jarrar, Andres M. Kanner, David King-Stephens, Rebecca E. Matthews, Patricia Penovich, M. Scott Perry, Eric B. Segal, Joseph Sirven, John M. Stern, James W. Wheless, Enrique Carrazana, Adrian L. Rabinowicz, William O. Tatum

Department of Neurology Faculty Papers

BACKGROUND: People with epilepsy (PWE) may experience seizure clusters, broadly defined as ≥2 seizures that occur in close proximity. In epilepsy monitoring units (EMUs), seizure clusters can spontaneously occur during long-term videoelectroencephalogram monitoring (LTVEM) or as a result of antiseizure medication dose adjustments. In this survey, we examined the experiences and practices of expert clinicians with seizure clusters in EMUs.

METHODS: A 55-item survey was sent to members of an Epilepsy Education Council who are epilepsy experts. Items described experiences, treatment practices, and negative outcomes with seizure clusters in EMUs.

RESULTS: Of the 15 experts (aged 43-77 y), 14 are …

Reframing Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (Me/Cfs): Biological Basis Of Disease And Recommendations For Supporting Patients., Priya Agarwal, Kenneth J Friedman

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a worldwide challenge. There are an estimated 17-24 million patients worldwide, with an estimated 60 percent or more who have not been diagnosed. Without a known cure, no specific curative medication, disability lasting years to being life-long, and disagreement among healthcare providers as to how to most appropriately treat these patients, ME/CFS patients are in need of assistance. Appropriate healthcare provider education would increase the percentage of patients diagnosed and treated; however, in-school healthcare provider education is limited. To address the latter issue, the New Jersey Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Association (NJME/CFSA) has developed …

Comparative Outcomes Of Coil Embolization And Surgical Clipping In Elderly Patients With Subarachnoid Hemorrhage: A Systematic Review And Meta-Analysis, Yohanna Idsabella Rossi, Gabriel Bolner, Jonathan Costa Dall'acqua, Fabiana Dolovitsch De Oliveira, Lucas V. Zacaria, Taís L. Denicol, Michel Frudit, Natália Vasconcellos De Oliveira Souza

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: Elderly patients with subarachnoid hemorrhage (SAH) face a disproportionately high burden of morbidity and mortality. While endovascular coiling is often favored in this population, direct comparisons with surgical clipping are limited. We conducted a meta-analysis to compare outcomes of clipping versus coiling in SAH patients aged ≥ 60 years.

METHODS: A systematic search of PubMed, Embase, and Cochrane databases identified studies comparing the two treatments in this age group. The primary outcome was a composite of unfavorable outcomes (modified Rankin Scale [mRS] > 2 and mortality). Secondary outcomes included mortality, favorable outcome (mRS 0-2), rebleeding, and hospital length …

Chronic Cluster Headache Is A Rare Disease: Implications For Diagnosis, Treatment And Public Health, Hsiangkuo Yuan, Jan Hoffmann, Elena Ruiz De La Torre, Michael J. Marmura, Mario F. P. Peres

Department of Jefferson Headache Center Papers and Presentations

Cluster headache (CH) is a rare and painful primary headache disorder characterized by severe unilateral pain and cranial autonomic symptoms. This perspective examines the epidemiological evidence supporting the classification of chronic cluster headache (CCH) as a rare disease, noting a prevalence of CH of approximately 124 per 100,000 individuals, with only 3.5-13.7% manifesting CCH. This prevalence meets criteria established by both the US Food and Drug Administration and European Medicines Agency for rare disease designation. The rarity of CCH creates substantial clinical and research challenges, including prolonged diagnostic delays, limited research funding and a dearth of approved treatments. The economic …

Microbial Metabolite Regulation Of Microglial Ahr Signaling In Alzheimer’S Disease, Ghalya E. Alrousan

Dissertations and Theses (Open Access)

Introduction: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by amyloid-β plaque accumulation, neuroinflammation, and cognitive decline. Recent evidence suggests that systemic factors, particularly the gut microbiota and its metabolites, play a significant role in shaping brain immune responses, including microglial activation. However, the mechanisms linking gut dysbiosis to microglial dysfunction in AD are poorly understood. The aryl hydrocarbon receptor (AHR), a ligand-activated transcription factor responsive to tryptophan metabolites, has recently gained attention as a key regulator of neuroinflammation and microglial function. I hypothesize that the loss of beneficial microbial AHR ligands, specifically indole derivatives, during aging and AD …

Uncharted Territory: The First Case Of Cardiac Myxoma In A Patient With Nf2, Muhammad Sabri, Zinya Talukder, Naila Ijaz, Joseph Neri

Rothman Institute Papers

BACKGROUND: Cardiac myxoma is a benign tumor, typically originating in the left atrium, and is often linked to Carney complex. In our literature review, there are no case reports of cardiac myxoma in patients with neurofibromatosis type 2 (NF2).

CASE SUMMARY: A 60-year-old man presented with dizziness and was found to have meningioma and vestibular schwannoma, consistent with NF2. Cardiac myxoma was incidentally diagnosed through echocardiography and confirmed by cardiac magnetic resonance imaging and tissue pathology. The mass was surgically resected. The patient was offered genetic testing; however, he decided to not undergo further testing.

DISCUSSION: NF2 is an inherited …