Medical Specialties Commons^™

Diplopia In Metastatic Hepatocellular Carcinoma With Spread To The Sphenoid Sinus, Elena Salikhova-Neace, Anna Belits, Petros Keoseyan, Ethan Mccarty, Judd Jensen, Katrina Lancaster-Shorts, Emily Lampe

Continental and Mountain Divisions GME Resarch Day 2026

No abstract provided.

Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou

Duncan NRI Faculty and Staff Publications

Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.

Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …

Transverse Myelitis, Children's Health School Services

School Guides

Educator guide about how to support students with transverse myelitis.

Traumatic Brain Injury, Children's Health School Services

School Guides

Educator guide about how to support students with traumatic brain injury.

Neuromyelitis Optica, Children's Health School Services

School Guides

Educator guide about how to support students with neuromyelitis optica.

Limbic Encephalitis, Children's Health School Services

School Guides

Educator guide about how to support students with limbic encephalitis.

Functional Neurological Disorder, Children's Health School Services

School Guides

Educator guide about how to support students with functional neurological disorder.

Implementation And Clinical Utility Of Ultra-Low-Field Portable Magnetic Resonance Imaging For Postprocedural Neurological Evaluation In Ambulatory Neurosurgery: Illustrative Cases, Devan Patel, Vinay Jaikumar, Taysia P. T. Morioka, Laz Rifkin, Kenneth S. Jacoby, Jaims Lim, Anais Andrade, Aimee C. Degaetano, Pui Man Rosalind Lai, Elad I. Levy

EVMS School of Health Professions Faculty Publications

BACKGROUND

Elective endovascular neurosurgical procedures are increasingly performed in ambulatory neurosurgery centers, enabled by advances in catheter technology, safety of conscious sedation, and refined patient selection. Although complication rates are low, rapid evaluation of postprocedural neurological deficits remains critical. Conventional MRI is often impractical in outpatient or procedural settings, whereas ultra-low-field portable MRI (ULF-pMRI) systems (such as Swoop) allow bedside imaging with favorable diagnostic performance.

OBSERVATIONS

Two women in their 60s developed acute neurological deficits at an ambulatory neurosurgery center (ANSC) after diagnostic cerebral angiography in one case and elective internal carotid artery flow diversion in the other. In both …

Sleep Problems In Children With Adhd: Associations With Internalizing Symptoms And Physical Activity, Xiao Liang, Mengping Zhao, Li Su, Justin A. Haegele, Richard H. Xu, Jiayue Li, Jinxian Guo, Choi-Yeung Tse, Shirley X. Li, David H. K. Shum

Human Movement Studies & Special Education Faculty Publications

Children with attention deficit hyperactivity disorder (ADHD) experience high rates of sleep problems and are at increased risk for developing internalizing problems. This study aimed to examine the association of sleep problems and physical activity with internalizing symptoms in children with ADHD. This cross-sectional study included 188 children with ADHD (M age = 8.60 ± 1.38, 78.7% boys). Self-reported questionnaires were used to assess sleep problems (Pittsburgh Sleep Quality Index [PSQI]) and internalizing symptoms (Depression Anxiety Stress Scale 21 [DASS 21]). The presence of sleep problems was defined as a PSQI score > 5. Physical activity was recorded by an ActiGraph …

Real-World Anti-Amyloid Therapy Beyond Traditional Symptomatic Populations: A Longitudinal Case Series, Jayoung Han, Yuan Fang, Darlingtina Esiaka, Olufunmilola Abraham

Mathematics & Statistics Faculty Publications

Introduction: Anti-amyloid monoclonal antibodies are approved as disease-modifying therapies for early Alzheimer’s disease (AD), but real-world evidence remains limited, particularly among individuals treated during preclinical or minimally symptomatic stages. This study characterized clinical and biomarker trajectories among anti-amyloid therapy recipients across disease stages.

Method: We conducted a longitudinal retrospective case series of three biomarker-positive individuals from the Alzheimer’s Disease Neuroimaging Initiative who received lecanemab or donanemab. Clinical, cognitive, cerebrospinal fluid, plasma biomarker, and amyloid PET data were examined.

Results: In all three cases, most of the observation period preceded anti-amyloid therapy initiation. Clinical trajectories varied by biomarker profile and treatment …

Digital Speech Biomarkers Of Cognitive Functioning In Multilingual Kenyan Adults, Adolfo M. Garcia, Levi Muyela, Alejandro Sosa Welford, Matías Caccia, Anne Njoki Gitere, Anne Nyambura, Erick Muhando, Zul Merali, Chinedu Momoh, Karen Blackmon

Brain and Mind Institute

Background: Digital speech biomarkers show promise as cost-effective and scalable diagnostic tools for cognitive decline and dementia in African research and healthcare settings. However, significant gaps remain in language-specific normative data, cross-linguistic validation, and standardized protocols for multilingual populations. Targeting cognitively unimpaired multilingual Kenyan adults, here we aim to validate speech timing features from natural language, against performance on standardized culture-sensitive neuropsychological measures.

Method: This study was funded by Davos Alzheimer's Collaborative and took place in an outpatient clinic at the Aga Khan University in Nairobi, Kenya. Participants completed culturally adapted tests tapping on word list learning, visual memory, …

Nicotine Self-Administration And The Impacts On Medial Habenula And Interpeduncular Nucleus Neurophysiology, Nathan Alexander Olszewski

Theses, Dissertations and Capstones

Nicotine use is a tremendous public health issue in the United States, with over 23 million people being dependent on the substance. Low cessation rates associated with nicotine use are largely attributed to the withdrawal and craving symptoms that occur after abstinence of use from nicotine. The medial habenula (MHb) and interpeduncular nucleus (IPN) are two brain regions heavily associated and linked with nicotine withdrawal. Here, I sought to understand how these brain regions are altered in their physiology during nicotine intake. Utilizing E-Vape self-administration, mice were first taught to selfadminister nicotine of various, clinically relevant, dosages which correlate to …

Vestibular Migraine And Ssri Withdrawal, Grace Fairchild, Sarah Redding, Ashley Flagge

V&B Posters

No abstract provided.

Vestibular Migraine And Ssri Withdrawal: A Case Presentation, Grace Fairchild, Sarah Redding, Ashley Flagge

V&B Presentations

No abstract provided.

Understanding Autonomous Sensory Meridian Response (Asmr), Cecilia Zoutewelle

A. The Science of Sound

This 7-page report with illustrations and bullet-point summaries provides an introduction to the phenomena of Autonomous Sensory Meridian Response (ASMR). Also included is a brief discussion on the benefits of ASMR for interpersonal listening.

In Vivo Telemetry To Record Long-Term Cardiovascular Parameters, Temperature, And Activity In Spinal Cord Injury Rat Models, Sajeev Kaur, Anna M. Baur, Jillian A. Condrey, Dorottya P. Gal, Samir P. Patel, John C. Gensel

Spinal Cord and Brain Injury Research Center Faculty Publications

Higher-level spinal cord injury (SCI) above thoracic level 6 (T6) disrupts autonomic function and contributes to secondary complications, including fluctuations in blood pressure, heart rate, and temperature. In rats, the placement of telemetric implants in the descending aorta offers a robust methodology for assessing various cardiovascular parameters, such as systolic and diastolic pressure, mean arterial pressure, and heart rate. Core body temperature and animal activity can also be recorded following telemetric implant placement. A rat with a telemetric implant is kept on the receiver plate connected to a computer system for recording various parameters. Continuous long-term recordings at defined time …

Establishing An Advanced Practice Provider-Led Transient Ischemic Attack Clinic: A Quality Improvement Initiative, Brittany A. Young

DNP Projects

Background: Due to lack of subspecialized neurological care in many rural community settings, care in tertiary hospitals is in demand. Insufficient care pathways can lead to lack of bed and provider availability. Advanced Practice Provider Transient Ischemic Attack clinics have been shown to be safe alternatives to hospital admission, for patients who meet criteria. This study targeted practice change at a 1000 bed tertiary academic hospital.

Methods: The quasi-experimental study sample inclusion criteria included Transient Ischemic Attack patients presenting to the emergency department with an ABCD2 < 4, complete symptom resolution, and no new cardiac changes on monitoring. A pre and post survey with educational PowerPoint intervention was provided to all emergency department and Neurology providers and nurses. A Transient Ischemic Attack clinic was established with a corresponding order set to be utilized for streamlined outpatient work up.

Results: During the pilot period, 29 admissions were deferred with 69% …

Epilepsy, Children's Health School Services

School Guides

Educator guide about how to support students with epilepsy.

Brain Tumors, Children's Health School Services

School Guides

Educator guide about how to support students with brain tumors.

Acute Disseminated Encephalomyelitis (Adem), Children's Health School Services

School Guides

Educator guide about how to support students with acute disseminated encephalomyelitis or ADEM.

Multiple Sclerosis, Children's Health School Services

School Guides

Educator guide about how to support students with multiple sclerosis.

The Effects Of Non-Pharmacologic Interventions On Preventing Secondary Stroke: An Integrated Research Review, Ahnnabeth Everard Millis

Covenant Nurses Week 2026

No abstract provided.

Improving Patient Outcomes Through Structured Nursing Surveillance In Acute Stroke And Transient Ischemic Attack (Tia): An Integrative Research Review (Irr), Sheeba Everard Matthew

Covenant Nurses Week 2026

No abstract provided.

Enhancing Early Seizure Detection In Cricial Care Through Nurse-Driven Rapid Eeg, Dylan Delaney, Brenna Gale Jackson, Ruben Sanchez, Amanda Garza, Rebecca Kilgore

Covenant Nurses Week 2026

No abstract provided.

Longitudinal Changes In Plasma Biomarkers Of Immune Activation, Neuronal Inflammation And Injury In Persons With Hiv Initiating Art, Merle Henderson, Peter Dutey-Magni, Carolina Herrera, Wolfgang Stöhr, Alejandro Arenas-Pinto, Owen Swann, Amanda Heslegrave, Henrik Zetterberg, John Tregoning, Sarah Fidler, François Raffi, Andrea Calcagno, Ab Babiker, Alan Winston

CONRAD Publications

Background

Data on changes in biomarkers of brain health, and their associations with cognitive function in adults commencing either dual- or triple-antiretroviral therapy (ART) are sparse.

Methods

Plasma biomarkers (neurofilament light [NfL], glial fibrillary acidic protein [GFAP], sCD14, CXCL10, neopterin and IL-6) were measured at baseline and after 96 weeks on ART in individuals randomized to darunavir/ritonavir and either tenofovir-DF/emtricitabine (triple-ART, n = 119) or raltegravir (dual-ART, n = 119) in NEAT-001/ANRS143. Regression models examined associations of baseline and week-96 biomarker concentrations with HIV clinical parameters, composite cognitive test scores (Standardized neuropsychological test [NPZ], 7-domains) and treatment arm.

Results

In …

Liposome-Encapsulated Clodronate And Cox-2 Inhibitor Treatment Impair Ventilatory Recovery But Improve Compensatory Locomotor Function Following Cervical Spinal Cord Injury In Rats, Aaron L. Silverstein, Chris M. Calulot, Christopher J. Mclouth, John C. Gensel, Warren J. Alilain

Spinal Cord and Brain Injury Research Center Faculty Publications

Over half of all spinal cord injuries (SCIs) in the United States occur at the cervical level and can cause locomotor deficits and life-threatening breathing dysfunction. Interestingly, the bisphosphonate drug clodronate has shown efficacy in ameliorating tissue damage and improving locomotor recovery acutely after experimentally induced thoracic SCI. Thus, we hypothesized that clodronate treatment would improve recovery of breathing and locomotor function following a C2 hemisection (C2Hx) model of cervical SCI in rats. Serendipitously, changes to animal use guidelines led to the inclusion of carprofen, a non-steroidal anti-inflammatory drug (NSAID), as another independent variable in our study. We treated adult …

Traumatic Brain Injury Exacerbates Mitochondrial Dysfunction In App/Ps1 Knock-In Mice Through Time-Dependent Pathways, Elika Z. Moallem, Hemendra J. Vekaria, Teresa Macheda, Margaret R. Hawkins, Kelly N. Roberts, Samir P. Patel, Patrick G. Sullivan, Adam D. Bachstetter

Spinal Cord and Brain Injury Research Center Faculty Publications

Cerebral hypometabolism occurs in both traumatic brain injury (TBI) and Alzheimer's disease (AD), but whether these conditions act through distinct or overlapping mechanisms is unclear. TBI disrupts cerebral metabolism via blood–brain barrier damage, altered glucose transporter expression, calcium buffering abnormalities, and oxidative damage to metabolic enzymes. AD-related hypometabolism is linked to amyloid-β (Aβ) effects on mitochondria, including impaired respiration, oxidative stress, and altered mitophagy, fusion, and fission. We tested whether TBI-induced mitochondrial dysfunction exacerbates Aβ-mediated impairment using a closed-head injury (CHI) model in APP/PS1 knock-in (KI) mice. Injuries were delivered at 4–5 months of age, before plaque formation and mitochondrial …

Candidate Interaction Partners Of Calpain-5 Suggest Clues To Its Involvement In Neovascular Inflammatory Vitreoretinopathy, Jozsef Gal, Vimala Bondada, Rachel Crasta, Dorothy E. Croall, Calvin P. Vary, James W. Geddes

Spinal Cord and Brain Injury Research Center Faculty Publications

Although calpain-5/CAPN5 is widely expressed in mammals, little is known regarding its functions. Pathogenic mutations of CAPN5 are causal for a devastating autoimmune eye disease, neovascular inflammatory vitreoretinopathy (NIV). To provide insight into both the physiological and pathological roles of CAPN5, it is essential to identify candidate interaction partners and possible substrates. Human SH-SY5Y neuroblastoma cells, transfected with full-length catalytically dead (Cys81Ala) CAPN5-3×FLAG, were used for anti-FLAG co-immunoprecipitation (co-IP) and quantitative proteomics using Sequential Window Acquisition of all THeoretical mass spectra (SWATH-MS). Fifty-one proteins were enriched at least four-fold, p < 0.01, relative to cells transfected with an empty FLAG vector. A high proportion (24/51) of candidate CAPN5 interaction partners are associated with protein quality control, including components of the chaperonin, chaperone, and ubiquitin–proteasome systems. Additional candidate interactors include tubulins, kinases, phosphatases, G proteins, and mitochondrial proteins. CAPN5 interactions for 14 of the candidate proteins were confirmed by co-IP and immunoblotting. Of these 14 proteins, 11 exhibited in vitro calcium-induced proteolysis following co-IP with WT CAPN5-3×FLAG. Impaired calcium-induced proteolysis of co-IP proteins was observed for the pathogenic CAPN5 variants R243L and R289W. Further studies are needed to validate the association of candidate CAPN5 interactors with proteins and complexes suggested by the SWATH-MS and co-IP results, and the possible role of CAPN5 within such complexes. The possible involvement of CAPN5 in protein quality control is relevant to NIV, as defects in protein quality control have been implicated in inherited retinal disorders. Proteomic data are available via ProteomeXchange with identifier PXD068008.

Dementia Incidence In Patients With Prurigo Nodularis: An Observational Retrospective Cohort Study, Madison P. Olexson, Ana Ormaza Vera, Chunghwan Ro, Clinton W. Enos

Department Dermatology Faculty Publications

[Introduction] Prurigo nodularis (PN) is a chronic neuroinflammatory dermatosis of unknown etiology characterized by severely pruritic, symmetrically-distributed nodules with a negative impact on quality of life [1]. While some consider PN a primary idiopathic disorder, it often arises as a secondary manifestation of underlying conditions, including atopic dermatitis (AD), chronic kidney disease (CKD), human-immunodeficiency-virus (HIV), and thyroid disorders [2]. Although patients with PN are at higher risk for psychiatric comorbidities including depression, anxiety, and suicidal ideation [3] research which investigates associations between PN and neurodegenerative disorders is limited [4]. Moreover, emerging evidence implicating sustained systemic inflammation, characteristic of psoriasis and …