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Articles 271 - 300 of 1882

Full-Text Articles in Nervous System Diseases

Determining Immune Activation In A Drosophila Model Of Als, Abrielle Fretz, Ryan Insolera Apr 2025

Determining Immune Activation In A Drosophila Model Of Als, Abrielle Fretz, Ryan Insolera

Medical Student Research Symposium

Determining Immune Activation in a Drosophila Model of ALS

Abrielle Fretz and Ryan Insolera

Background:

ALS is a progressive neurodegenerative disease that leads to muscle weakness and death. While most cases of ALS are sporadic, around 10% of cases are inherited. Of these inherited cases, one gene found to be involved is optineurin (OPTN). Mutated OPTN induces a cycle of cellular stress and death through NF-kB, a gene regulating immune activation and cell death. This dysregulation is thought to be a contributing factor to the disease processes of ALS.

In Drosophila, mutation of OPTN’s homologous gene, Kenny, was found to …


Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md Apr 2025

Clinical And Imaging Correlates Of Cognitive Impairment Patterns In Early Unilateral Brain Injury Associated With Sturge-Weber Syndrome, Halah Keramane, Csaba Juhasz Md, Phd, Michael E. Behen Phd, Aimee Luat Md

Medical Student Research Symposium

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disease characterized by cerebral venous malformations leading to early damage of affected brain regions. Clinical symptoms include seizures, motor and cognitive impairment. Most SWS patients have unilateral brain involvement, and previous studies reveal substantial neurological plasticity in some of them. Some children with left-hemispheric damage demonstrate, paradoxically, preserved verbal functions and reduced nonverbal functions (a “crowding” effect), suggesting contralateral functional reorganization from damaged cortical regions. We evaluated the incidence as well as clinical and imaging correlates of such functional reorganization/crowding.

Methods: Forty-six patients (age: 2.5-24 years) with unilateral SWS underwent neurocognitive evaluations …


Breaking The Synaptic Vesicle Cycle: Mechanistic Insights Into Presynaptic Dysfunctions In Epilepsy, Kevin Jiang, Lu-Tang Yang, Mingshan Xue Apr 2025

Breaking The Synaptic Vesicle Cycle: Mechanistic Insights Into Presynaptic Dysfunctions In Epilepsy, Kevin Jiang, Lu-Tang Yang, Mingshan Xue

Duncan NRI Faculty and Staff Publications

Synaptic dysfunction is a hallmark of many neurological disorders including epilepsy. An increasing number of epilepsy-causing pathogenic variants are being identified in genes encoding presynaptic proteins that affect every step of the synaptic vesicle cycle, from vesicle loading, tethering, docking, priming, calcium sensing, fusing, to recycling. These different molecular dysfunctions result in converging impairment of presynaptic neurotransmitter release, yet lead to diverse epileptic disorders. This review focuses on representative monogenic epileptic disorders caused by pathogenic variants of key presynaptic proteins involved in different stages of the synaptic vesicle cycle: SYN1 (vesicle pool regulation), STXBP1 (vesicle docking, priming, and fusion), and …


Reevaluating Informed Consent: Integrating Shared Decision-Making Into Spinal Surgery For Better Patient Outcomes., Jeffrey N Wang, Mohamed A Elhakeem, Matthew J Mesimer, Paul G Mastrokostas, Salman Ahmad, Tim Reed, Brandon Klein, Lucas E Bartlett, Adam D Bitterman, Andrew Megas Apr 2025

Reevaluating Informed Consent: Integrating Shared Decision-Making Into Spinal Surgery For Better Patient Outcomes., Jeffrey N Wang, Mohamed A Elhakeem, Matthew J Mesimer, Paul G Mastrokostas, Salman Ahmad, Tim Reed, Brandon Klein, Lucas E Bartlett, Adam D Bitterman, Andrew Megas

Rowan-Virtua School of Osteopathic Medicine Departmental Research

Study Design: Narrative review.

Objectives: The objectives of this study were to answer the following questions: (1) What is the quality of informed consent in spine surgery, including both neurosurgery and orthopaedic spine surgery? (2) What limitations impede the ability of surgeons to engage in effective shared decision-making (SDM) and obtain adequate informed consent? (3) What strategies and solutions may improve the quality of informed consent and SDM? (4) What factors decrease the incidence of litigation in spine surgery?

Methods: N/A.

Results: SDM is a collaborative process where patients are involved in their treatment choices through open communication about risks, …


Developing And Validating Brain Tumor Organoid Models To Evaluate Novel Therapeutics In Vitro, Dev P. Patel Apr 2025

Developing And Validating Brain Tumor Organoid Models To Evaluate Novel Therapeutics In Vitro, Dev P. Patel

Senior Theses

Glioblastoma (GBM), a World Health Organization Grade IV brain tumor, remains one of the most aggressive and treatment-resistant malignancies. It is characterized by rapid proliferation, deep infiltration, and a high level of genotypic and phenotypic heterogeneity. Despite advancements in medical technology and neuro-oncology, GBM remains one of the most treatment-resistant cancers with a median survival rate of only nine months post-diagnosis and less than 5% of patients surviving beyond 5 years of diagnosis. The standard treatment constitutes maximum surgical resection followed by chemotherapy and radiation. These therapeutic strategies are blocked by significant challenges like the blood-brain barrier (BBB), and intratumoral …


Women’S Health Considerations In Traumatic Brain Injury, Sindhoori Nalla Mar 2025

Women’S Health Considerations In Traumatic Brain Injury, Sindhoori Nalla

Department of Rehabilitation Medicine Faculty Papers

Purpose of Review: Biological sex differences are an important factor to consider when treating TBI, as there can be a disproportionate manifestation of symptoms and recovery process when comparing females to males. Historically, these differences have not been well studied, and there is still much to be understood as to why these differences exist. Recent Findings: A number of factors are thought to contribute to disparities with women who have a TBI, including lack of well-designed research studies focused on women, hormonal fluctuations at the time of and as a result of a TBI, psychosocial comorbidities, and societal norms/expectations. While …


Management Of Parkinson's Disease Psychosis: First-Line Antipsychotic Selection And Rationale For Continuing, Combining, Or Switching, Stuart H. Isaacson, Henry Nasrallah, Rajesh Pahwa, Gustavo Alva, Daniel Kremens, Stephen M. Stahl Mar 2025

Management Of Parkinson's Disease Psychosis: First-Line Antipsychotic Selection And Rationale For Continuing, Combining, Or Switching, Stuart H. Isaacson, Henry Nasrallah, Rajesh Pahwa, Gustavo Alva, Daniel Kremens, Stephen M. Stahl

Department of Neurology Faculty Papers

INTRODUCTION: The past decade has seen a paradigm shift in the evaluation and management of Parkinson's disease psychosis (PDP), with the first approval of an antipsychotic in the US in 2016. An evidence-based review by the Movement Disorder Society found pimavanserin and clozapine to be clinically useful, (low-dose) quetiapine to be possibly useful, and all other antipsychotics to be avoided due to motor worsening. Clozapine and quetiapine use can be limited by provoking Parkinson's disease (PD) nonmotor symptoms of somnolence and hypotension. Quetiapine may also be limited by its risk in cognitive impairment. Pimavanserin is not associated with these symptoms. …


Massive Subcutaneous Hematoma Of The Back In Patient With Neurofibromatosis Type 1, Sriprachodaya Gaddam, Olivia Orris, Leigham Breckenridge, Michael Van Etten Mar 2025

Massive Subcutaneous Hematoma Of The Back In Patient With Neurofibromatosis Type 1, Sriprachodaya Gaddam, Olivia Orris, Leigham Breckenridge, Michael Van Etten

Tower Health Research Day

No abstract provided.


Impact Of Body Mass Index On Stroke In Extracorporeal Cardiopulmonary Resuscitation: Data From The Extracorporeal Life Support Organization Registry, Jin Kook Kang, Shi Nan Feng, Winnie Liu, Jiah Kim, Andrew Kalra, Patricia Brown, Christopher Wilcox, Daniel Brodie, Steven Keller, Bo Soo Kim, Glenn Whitman, Sung-Min Cho Mar 2025

Impact Of Body Mass Index On Stroke In Extracorporeal Cardiopulmonary Resuscitation: Data From The Extracorporeal Life Support Organization Registry, Jin Kook Kang, Shi Nan Feng, Winnie Liu, Jiah Kim, Andrew Kalra, Patricia Brown, Christopher Wilcox, Daniel Brodie, Steven Keller, Bo Soo Kim, Glenn Whitman, Sung-Min Cho

SKMC Student Presentations and Publications

Objective: We aimed to characterize the impact of body mass index (BMI) on stroke in patients receiving extracorporeal cardiopulmonary resuscitation (ECPR). Methods: We queried the Extracorporeal Life Support Organization registry for patients receiving ECPR (2020-2024). Patients were categorized into five BMI groups: underweight (< 18.5 kg/m2), normal weight (18.5-24.9 kg/m2), overweight (25-29.9 kg/m2), class 1 obesity (30-34.9 kg/m2), and class 2 obesity or above (≥35 kg/m2). A generalized additive model (GAM) analysis was used to identify the BMI range with the greatest stroke risk. Multivariable regression was used to compare odds of …


Effect Of Chronic Alcohol Feeding Using The Lieber-Decarli Diet On Alzheimer’S Disease Pathology In Tg2576 Mice, Devaraj V. Chandrashekar, Nataraj Jagadeesan, Tamara Abdullah, Rudy Chang, Ross A. Steinberg, Frankey Sanchez, Elias Khal, Joshua Yang, David H. Cribbs, Derick Han, Rachita K. Sumbria Mar 2025

Effect Of Chronic Alcohol Feeding Using The Lieber-Decarli Diet On Alzheimer’S Disease Pathology In Tg2576 Mice, Devaraj V. Chandrashekar, Nataraj Jagadeesan, Tamara Abdullah, Rudy Chang, Ross A. Steinberg, Frankey Sanchez, Elias Khal, Joshua Yang, David H. Cribbs, Derick Han, Rachita K. Sumbria

Pharmacy Faculty Articles and Research

Background: Chronic alcohol drinking is a modifiable risk factor for Alzheimer’s disease (AD), but underlying mechanisms remain poorly understood. Most studies of alcohol feeding to AD mice have utilized young mice and delivered alcohol in drinking water without controlling nutritional intake.

Objective: To study the impact of Lieber-DeCarli (LDC) liquid alcohol diet, which balances nutritional intake, on AD pathology of aged Tg2576 and wild-type (WT) mice, which is unexplored.

Methods: 13-month-old male and female Tg2576 or WT mice were fed LDC diet (5% ethanol or control) for six weeks (n = 11-13/group). Exploration (open-field test) and spatial reference memory …


Radial Glia Integrin Avb8 Regulates Cell Autonomous Microglial Tgfβ1 Signaling That Is Necessary For Microglial Identity, Gabriel Mckinsey, Nicolas Santander, Xiaoming Zhang, Kilian Kleemann, Lauren Tran, Aditya Katewa, Kaylynn Conant, Matthew Barraza, Kian Waddell, Carlos Lizama, Marie La Russa, Ji Hyun Koo, Hyunji Lee, Dibyanti Mukherjee, Helena Paidassi, E. S. Anton, Kamran Atabai, Dean Sheppard, Oleg Butovsky, Thomas Arnold Mar 2025

Radial Glia Integrin Avb8 Regulates Cell Autonomous Microglial Tgfβ1 Signaling That Is Necessary For Microglial Identity, Gabriel Mckinsey, Nicolas Santander, Xiaoming Zhang, Kilian Kleemann, Lauren Tran, Aditya Katewa, Kaylynn Conant, Matthew Barraza, Kian Waddell, Carlos Lizama, Marie La Russa, Ji Hyun Koo, Hyunji Lee, Dibyanti Mukherjee, Helena Paidassi, E. S. Anton, Kamran Atabai, Dean Sheppard, Oleg Butovsky, Thomas Arnold

Department of Medicine Faculty Papers

Microglial diversity arises from the interplay between inherent genetic programs and external environmental signals. However, the mechanisms by which these processes develop and interact within the growing brain are not yet fully understood. Here, we show that radial glia-expressed integrin beta 8 (ITGB8) activates microglia-expressed TGFβ1 to drive microglial development. Domain-restricted deletion of Itgb8 in these progenitors results in regionally restricted and developmentally arrested microglia that persist into adulthood. In the absence of autocrine TGFβ1 signaling, microglia adopt a similar phenotype, leading to neuromotor symptoms almost identical to Itgb8 mutant mice. In contrast, microglia lacking the canonical TGFβ signal transducers …


Seizure Freedom And Reducing The Risk Of Sudden Unexpected Death In Patients With Focal Epilepsy Treated With Cenobamate Or Other Antiseizure Medications, Michael R. Sperling, William E. Rosenfeld, John Watson, Pavel Klein Mar 2025

Seizure Freedom And Reducing The Risk Of Sudden Unexpected Death In Patients With Focal Epilepsy Treated With Cenobamate Or Other Antiseizure Medications, Michael R. Sperling, William E. Rosenfeld, John Watson, Pavel Klein

Department of Neurology Faculty Papers

People with epilepsy who have uncontrolled seizures are at increased risk of all-cause mortality, injuries, comorbidities, mood and psychosocial disorders, and diminished quality of life. For those with focal epilepsy, focal to bilateral tonic-clonic seizures (FBTCS) pose the greatest risk for sudden unexpected death in epilepsy (SUDEP), a leading cause of premature mortality in people with epilepsy. Cenobamate is a third-generation antiseizure medication with demonstrated efficacy in controlling focal seizures, including FBTCS, in people with drug-resistant epilepsy. Treatment with cenobamate in clinical trials was associated with a reduction in all-cause mortality to a rate statistically indistinguishable from that seen in …


Protocol And Design Of The Repose Study: A Double-Blinded, Randomised, Placebo-Controlled Trial To Evaluate The Efficacy Of Suvorexant To Improve Postoperative Sleep And Reduce Delirium Severity In Older Patients Undergoing Non-Cardiac Surgery, John Michael Fallon, Mona Hashemaghaie, Christy E. Peterson, Dieplinh Tran, Sophie R. Wu, Jonathan M. Valdes, Nicole M. Pedicini, Melissa E. Adams, Marjorie Soltis, Wissam Mansour, Mary Cooter Wright, Karthik Raghunathan, Miriam M. Treggiari, Cina Sasannejad, Michael J. Devinney Mar 2025

Protocol And Design Of The Repose Study: A Double-Blinded, Randomised, Placebo-Controlled Trial To Evaluate The Efficacy Of Suvorexant To Improve Postoperative Sleep And Reduce Delirium Severity In Older Patients Undergoing Non-Cardiac Surgery, John Michael Fallon, Mona Hashemaghaie, Christy E. Peterson, Dieplinh Tran, Sophie R. Wu, Jonathan M. Valdes, Nicole M. Pedicini, Melissa E. Adams, Marjorie Soltis, Wissam Mansour, Mary Cooter Wright, Karthik Raghunathan, Miriam M. Treggiari, Cina Sasannejad, Michael J. Devinney

School of Medicine Faculty Publications

INTRODUCTION: Postoperative delirium occurs in up to 40% of older surgical patients and has been associated with prolonged hospital stays, long-term cognitive impairment and increased 1-year postoperative mortality. Postoperative sleep disturbances may increase the risk of delirium, but studies investigating pharmacotherapies to improve postoperative sleep to prevent delirium remain limited. Suvorexant is a selective antagonist of orexin 1 and 2 receptors and is approved for insomnia pharmacotherapy by the Food and Drug Administration. It has the potential to improve postoperative sleep and reduce postoperative delirium rates, but randomised controlled trials (RCTs) are needed to determine the efficacy of postoperative suvorexant …


Frontotemporal Dementia And Amyotrophic Lateral Sclerosis: A Case Report And Clinical Insights, Audrey Grigore, Lynne J. Goebel Mar 2025

Frontotemporal Dementia And Amyotrophic Lateral Sclerosis: A Case Report And Clinical Insights, Audrey Grigore, Lynne J. Goebel

Internal Medicine

Primary care providers are often the first contact for patients with neurodegenerative illnesses, however, they may not be aware of the relationship of certain diseases that may have an impact on their patients' longevity. This case report reminds clinicians of the association between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Physicians should be aware of the association, because FTD commonly occurs first and may prepare clinicians to be alert to the signs of ALS in these patients, leading to earlier detection of ALS and the prescription of disease-modifying medication that may extend the lifespan of people with these diseases. …


Interlink Between Genomics By Gtex Portal And Gut Microbiome In Autism Spectrum Disorder, Sriya Gullapalli, Nina Mourao, Tori Sayers, Lois Baldado, Megan W. Szobody, Arjun Bellamkonda, Blake C. Martin, Kory D. Punch, Kevin Garcia Valdez, Anesu Karen Murambadoro, Miguel Quintanilla, Bethany Woolman, Kelsey Baker, Bharathi S. Gadad Mar 2025

Interlink Between Genomics By Gtex Portal And Gut Microbiome In Autism Spectrum Disorder, Sriya Gullapalli, Nina Mourao, Tori Sayers, Lois Baldado, Megan W. Szobody, Arjun Bellamkonda, Blake C. Martin, Kory D. Punch, Kevin Garcia Valdez, Anesu Karen Murambadoro, Miguel Quintanilla, Bethany Woolman, Kelsey Baker, Bharathi S. Gadad

Research Symposium

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, social deficits, and highly restrictive sensory patterns which results from aberrant early-life central nervous system functioning. While ASD has been traditionally associated with molecular genetic alterations, emerging evidence underscores the role of environmental elements. In fact, pathologic genetic variations of key regulator genes coupled with environmental factors, such as: advanced maternal age, poor maternal health during pregnancy, gestational diabetes mellitus, and altered gut microbiome and/or secondary environmental challenges to the offspring in early childhood have all been attributed to increased risk of developing ASD. In efforts …


Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott Mar 2025

Future Applications Of Fluorescence Lifetime Imaging Ophthalmoscopy In Neuro-Ophthalmology, Neurology, And Neurodegenerative Conditions, Daniel M. Markowitz, Elizabeth Affel, György Hajnóczky, Robert C. Sergott

Farber Institute for Neuroscience Faculty Papers

Fluorescence lifetime imaging ophthalmoscopy (FLIO) has emerged as an innovative advancement in retinal imaging, with the potential to provide in vivo non-invasive insights into the mitochondrial metabolism of the retina. Traditional retinal imaging, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF) intensity imaging, focus solely on structural changes to the retina. In contrast, FLIO provides data that may reflect retinal fluorophore activity, some of which may indicate mitochondrial metabolism. This review builds upon the existing literature to describe the principles of FLIO and established uses in retinal diseases while introducing the potential for FLIO in neurodegenerative conditions.


Predictors Of Perioperative Stroke In Patients With Ischemic-Type Moyamoya Disease Treated With Surgical Revascularization: A Retrospective Multicenter Study, Basel Musmar, Joanna M. Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan A. Grossberg, Adam A. Dmytriw, Aman B. Patel, Mirhojjat Khorasanizadeh, Christopher S. Ogilvy, Ajith J. Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo M. Cortez, Ricardo A. Hanel, Guilherme Porto, Alejandro M. Spiotta, Anthony J. Piscopo, David M. Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid M. Nimjee, Kimon Bekelis, Mohamed M. Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian M. Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios S Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel A Herial, Stavropoula I Tjoumakaris, Michael Reid Gooch, Robert H Rosenwasser, Pascal Jabbour Mar 2025

Predictors Of Perioperative Stroke In Patients With Ischemic-Type Moyamoya Disease Treated With Surgical Revascularization: A Retrospective Multicenter Study, Basel Musmar, Joanna M. Roy, Hammam Abdalrazeq, Elias Atallah, Kareem El Naamani, Ching-Jen Chen, Roland Jabre, Hassan Saad, Jonathan A. Grossberg, Adam A. Dmytriw, Aman B. Patel, Mirhojjat Khorasanizadeh, Christopher S. Ogilvy, Ajith J. Thomas, Andre Monteiro, Adnan Siddiqui, Gustavo M. Cortez, Ricardo A. Hanel, Guilherme Porto, Alejandro M. Spiotta, Anthony J. Piscopo, David M. Hasan, Mohammad Ghorbani, Joshua Weinberg, Shahid M. Nimjee, Kimon Bekelis, Mohamed M. Salem, Jan-Karl Burkhardt, Akli Zetchi, Charles Matouk, Brian M. Howard, Rosalind Lai, Rose Du, Rawad Abbas, Georgios S Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel A Herial, Stavropoula I Tjoumakaris, Michael Reid Gooch, Robert H Rosenwasser, Pascal Jabbour

Department of Neurosurgery Faculty Papers

INTRODUCTION: Moyamoya disease (MMD) is a chronic cerebrovascular disorder characterized by progressive stenosis or occlusion of the internal carotid arteries and the development of collateral moyamoya vessels. Surgical revascularization is commonly used to prevent future ischemic events in ischemic-type MMD, but there remains a high rate of stroke perioperatively. This study aims to analyze the predictive factors for perioperative stroke in patients with ischemic-type MMD undergoing surgical revascularization using a large multicenter database.

METHODS: We conducted a multicenter retrospective study in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. This study included patients with ischemic-type …


Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker Mar 2025

Epilepsy In The Hispanic Population In The Rgv: A Five-Year Retrospective Chart Review, Megan W. Szobody, Kelsey Potter-Baker

Research Symposium

Introduction: Epilepsy is a seizure disorder characterized by abnormal electrical patterns in the brain that lead to changes in synchronization of neuronal firing patterns. Presentations of seizures vary, and include convulsions, changes in awareness, loss of consciousness, or unusual sensations. Approximately 3.4 million Americans suffer from epilepsy, with close to 15,000 in the Rio Grande Valley (RGV). The RGV is home to a vast Hispanic population, with 91% of its population identifying as Hispanic or Latino, according to the American Immigration Council’s research in 2019. However, literature on the prevalence, and presentation of epilepsy within the Hispanic population …


Progressive Multifocal Leukoencephalopathy (Pml) Induced By Jc Virus: A Case Report And Review Of Clinical Implications, Hugo Zamarron, Roberto Cruz Mar 2025

Progressive Multifocal Leukoencephalopathy (Pml) Induced By Jc Virus: A Case Report And Review Of Clinical Implications, Hugo Zamarron, Roberto Cruz

Research Symposium

Background: Progressive multifocal leukoencephalopathy (PML) is a rare but serious demyelinating disease of the central nervous system, caused by the John Cunningham (JC) virus. While the JC virus is common in the general population, it remains dormant in healthy individuals but can reactivate in immunocompromised patients, particularly those with HIV/AIDS or undergoing immunosuppressive treatments for organ transplants or autoimmune conditions. The virus attacks oligodendrocytes, leading to demyelination and significant neurological deficits. Immunosuppressive therapies such as natalizumab, rituximab, and mycophenolate increase the risk of PML. Diagnosing PML is challenging as its symptoms—focal neurological deficits, sensory-motor issues, and visual disturbances—overlap with conditions …


Children Suspected For Developmental Coordination Disorder In Hong Kong And Associated Health-Related Functioning: A Survey Study, Kathlynne F. Eguia, Sum Kwing Cheung, Kevin K.H. Chung, Catherine M. Capio Mar 2025

Children Suspected For Developmental Coordination Disorder In Hong Kong And Associated Health-Related Functioning: A Survey Study, Kathlynne F. Eguia, Sum Kwing Cheung, Kevin K.H. Chung, Catherine M. Capio

Health Sciences Faculty Publications

Children with developmental coordination disorder (DCD) have motor difficulties that interfere with their daily functions. The extent to which DCD affects children in Hong Kong has not been established. In this study, we aimed to estimate the prevalence of children suspected of DCD (sDCD) in Hong Kong and to examine the relationship between motor performance difficulties and health-related functioning. We conducted a cross-sectional survey of parents of children aged 5 to 12 years across Hong Kong (N = 656). The survey consisted of the Developmental Coordination Disorder Questionnaire (DCDQ) and short forms on global health, physical activity, positive affect, and …


Immunogenetic Studies In Patients With Gad-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes And Klk10 -Gene Variants, Popianna Tsiortou, Harry Alexopoulos, Konstantinos Kyriakidis, Michalis Kosmidis, Chrysanthi Barba, Sofia Akrivou, Ioannis Michalopoulos, Panagiotis Politis, Marinos Dalakas Mar 2025

Immunogenetic Studies In Patients With Gad-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes And Klk10 -Gene Variants, Popianna Tsiortou, Harry Alexopoulos, Konstantinos Kyriakidis, Michalis Kosmidis, Chrysanthi Barba, Sofia Akrivou, Ioannis Michalopoulos, Panagiotis Politis, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: The aim of this study was to identify genetic markers and immunologic characteristics of glutamic acid decarboxylase (GAD) antibody-positive patients with stiff-person syndrome (SPS).

METHODS: We conducted systemic immunogenetic studies in 11 GAD-positive patients: 8 with sporadic SPS and 3 from a three-generation family with very high GAD-ab titers but diverse symptomatology (one with GAD-epilepsy and SPS and 2 only with diabetes), by performing complete immunologic profile and whole-exome sequencing analysis.

RESULTS: Two genes expressed in immune and neuronal tissues were identified: the ORAI1 that codes for a calcium release–activated channel protein with a role in the …


Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan Feb 2025

Spetzler-Martin Grade I And Ii Cerebral Arteriovenous Malformations: A Propensity-Score Matched Analysis Of Resection And Stereotactic Radiosurgery In Adult Patients, Salem Tos, Mahmoud Osama, Georgios Mantziaris, Bardia Hajikarimloo, Nimer Adeeb, Sandeep Kandregula, Adam Dmytriw, Hamza Adel Salim, Basel Musmar, Kareem El Naamani, Christopher Ogilvy, Douglas Kondziolka, Ahmed Abdelsalam, Deepak Kumbhare, Sanjeev Gummadi, Cagdas Ataoglu, Ufuk Erginoglu, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Daniel Sconzo, Howard Riina, Arwin Rezai, Johannes Pöppe, Rajeev Sen, Omar Alwakaa, Christoph Griessenauer, Pascal Jabbour, Stavropoula Tjoumakaris, Jan-Karl Burkhardt, Robert Starke, Mustafa Baskaya, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Assala Aslan, Abdallah Abushehab, Christian Swaid, Adib Abla, Christopher Stapleton, Matthew Koch, Visish M Srinivasan, Peng Chen, Spiros Blackburn, Mark Dannenbaum, Omar Choudhri, Bryan Pukenas, Darren Orbach, Edward Smith, Markus Möhlenbruch, Ali Alaraj, Ali Aziz-Sultan, Aman Patel, Hugo Cuellar, Michael Lawton, Jacques Morcos, Bharat Guthikonda, Jason Sheehan

Department of Neurosurgery Faculty Papers

Cerebral arteriovenous malformations (AVMs) are congenital vascular anomalies that can lead to severe complications, including hemorrhage and neurological deficits. This study compares the outcomes of microsurgical resection and stereotactic radiosurgery (SRS) for SM grade I and II AVMs. Out of a large multicenter registry, we identified 180 matched patients with SM grade I and II AVMs treated with either microsurgical resection or SRS between 2010 and 2023. The primary outcomes were AVM obliteration rates and complications; secondary outcomes included neurological status and functional outcomes measured by the modified Rankin Scale (mRS). Propensity score matching (PSM) was utilized to ensure comparability …


The Impact Of Diabetes On Neurovascular Integrity: A Special Focus On Pericytes And Endothelin-1, Mia Edgerton Feb 2025

The Impact Of Diabetes On Neurovascular Integrity: A Special Focus On Pericytes And Endothelin-1, Mia Edgerton

MUSC Theses and Dissertations

Diabetes increases the risk of stroke and Vascular Contributions to Cognitive Impairment and Dementia (VCID). Diabetes also dysregulates the endothelin (ET) system. ET-1-mediated constriction of brain microvascular pericytes (BMVPCs) has been shown to contribute to brain hypoperfusion. However, there is a loss of BMVPCs in VCID, but underlying mechanisms of pericyte degeneration are poorly studied. ETA receptor activation can instigate phenotypical changes and cellular senescence in endothelial cells. . There is also emerging evidence that ETB receptor agonism improves outcomes in patients with cerebral ischemic stroke, but long-term effects, especially in diabetes, are unknown. Therefore, this study aimed to determine …


In-Silico Modeling And Characterization Of Kcc2 Protein Interaction With A Small Molecule Direct Agonist Identifies Potential Binding Sites For Modulating Behaviors Associated With Substances Of Abuse, William Hai Dang Ho, Alfred Amendolara, Kenyon Mitchell, Jaden Miner, Ruth Northcott, Braxton Bingham, Andrew J. Payne Feb 2025

In-Silico Modeling And Characterization Of Kcc2 Protein Interaction With A Small Molecule Direct Agonist Identifies Potential Binding Sites For Modulating Behaviors Associated With Substances Of Abuse, William Hai Dang Ho, Alfred Amendolara, Kenyon Mitchell, Jaden Miner, Ruth Northcott, Braxton Bingham, Andrew J. Payne

Annual Research Symposium

Purpose

KCC2 is a potassium-chloride cotransporter that plays a critical role in neuronal function by regulating GABAergic signaling via chloride gradients. Maintaining this concentration gradient is crucial for balancing excitation and inhibition in the brain. While KCC2 dysregulation has been implicated in epilepsy and seizures, recent studies suggest that KCC2 inhibition results in phenotypes mirroring those seen in chronic opioid dependence. As such, increasing evidence support KCC2 being a potential therapeutic target for modulating behaviors associated with substances of abuse. Currently, only a few direct small molecule agonists against KCC2 have been reported, and no definitive active site on the …


The Effectiveness Of Cochlear Implants On Cognitive Function In Children And Adolescents With Hearing Loss: A Systematic Review, Harshita Sarambale, Joshua Ahdout, Srinija Balabhadra, Yesenia Valle Ramirez, John V. Rider Phd, Otr/L, M. De Armond Mfa, Mslis, S. Koshy-Chenthittayil Phd Feb 2025

The Effectiveness Of Cochlear Implants On Cognitive Function In Children And Adolescents With Hearing Loss: A Systematic Review, Harshita Sarambale, Joshua Ahdout, Srinija Balabhadra, Yesenia Valle Ramirez, John V. Rider Phd, Otr/L, M. De Armond Mfa, Mslis, S. Koshy-Chenthittayil Phd

Annual Research Symposium

This ongoing research project is a medical student led systematic review on cognitive function in pediatric cochlear implant patients.


Effect Of Steroids On The Progression Of Alzheimer's Dementia: A Retrospective Chart Review., Julijana Zoran Conic, Alexandra Chetty, Lily Chen, Audrey Marsh, Sean Barry, Rodney Pattabhi, Thomas Reske, Erwin Aguilar, Lobna Ali Feb 2025

Effect Of Steroids On The Progression Of Alzheimer's Dementia: A Retrospective Chart Review., Julijana Zoran Conic, Alexandra Chetty, Lily Chen, Audrey Marsh, Sean Barry, Rodney Pattabhi, Thomas Reske, Erwin Aguilar, Lobna Ali

School of Medicine Faculty Publications

Objectives: Alzheimer's disease (AD) is a prevalent age‐related neurodegenerative disease that affects millions of individuals in the United States. Neuroinflammation is a driver of the neurodegenerative changes that characterize AD, prompting interest in how inflammation can be modulated for treatment and prevention. Methods: ICD‐10 codes were quarried from electronic medical records to identify patients diagnosed with AD from 2012 to 2020. The patients were then divided into those who used systemic steroids and those who did not before the progression of their disease. Data on medication prescribed was used to measure the disease's progression. Clinical findings and laboratory results were …


The Unfolding Story Of Protein Misfolding Causing Alzheimer Disease In Recipients Of Human Pituitary Growth Hormone, Evan G. Graber, Sayed M. Hadi Hosseini, Darrell M. Wilson, Alan D. Rogol Feb 2025

The Unfolding Story Of Protein Misfolding Causing Alzheimer Disease In Recipients Of Human Pituitary Growth Hormone, Evan G. Graber, Sayed M. Hadi Hosseini, Darrell M. Wilson, Alan D. Rogol

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Human growth hormone (hGH) has been in clinical use for children with GH deficiency (GHD) since the late 1950s. The original formulations were considered very safe with few adverse events reported. That changed remarkably in 1985 when the first patients with GHD, who had been treated with cadaveric hGH, were diagnosed with Creutzfeldt-Jakob disease (CJD). Fortunately, that same year a robust supply of recombinant hGH was released to the market whose adverse event profile did not include CJD. Patients who had received National Hormone and Pituitary Program hGH have been continuously followed since 1985. It is clear that prions are …


Identifying Breathing, Swallowing, And Speech Biosignatures In Parkinson’S Disease Patients With Wearable Devices, Amanda Brandaris, Katherine Shishido, Rohaan Manzoor, Ethan Hampton, Karthik Jasty, Kelvin Guo, Anna Fish, Spencer Peterson, Ulrike H. Mitchell Phd, Phillip Sechtem Phd, Ccc-Slp, Paula Johnson Phd, Anton E. Bowden Phd, Miriam Cortez-Cooper Pt, Phd, Pamela I. Barney Msrt, Rrt, Ae-C, Nps, John A. Kriak Pharmd Feb 2025

Identifying Breathing, Swallowing, And Speech Biosignatures In Parkinson’S Disease Patients With Wearable Devices, Amanda Brandaris, Katherine Shishido, Rohaan Manzoor, Ethan Hampton, Karthik Jasty, Kelvin Guo, Anna Fish, Spencer Peterson, Ulrike H. Mitchell Phd, Phillip Sechtem Phd, Ccc-Slp, Paula Johnson Phd, Anton E. Bowden Phd, Miriam Cortez-Cooper Pt, Phd, Pamela I. Barney Msrt, Rrt, Ae-C, Nps, John A. Kriak Pharmd

Annual Research Symposium

No abstract provided.


Editorial: Review Of Hyperbaric Therapy & Hyperbaric Oxygen Therapy In The Treatment Of Neurological Disorders According To Dose Of Pressure And Hyperoxia, Paul G. Harch, George Mychaskiw, John H. Zhang, Dominic P. D'Agostino, Keith Van Meter, Enrico M. Camporesi Feb 2025

Editorial: Review Of Hyperbaric Therapy & Hyperbaric Oxygen Therapy In The Treatment Of Neurological Disorders According To Dose Of Pressure And Hyperoxia, Paul G. Harch, George Mychaskiw, John H. Zhang, Dominic P. D'Agostino, Keith Van Meter, Enrico M. Camporesi

School of Medicine Faculty Publications

No abstract provided.


Characterizing Prodrome (Premonitory Phase) In Migraine: Results From The Prodrome Trial Screening Period, Todd Schwedt, Richard Lipton, Peter Goadsby, Chia-Chun Chiang, Brad Klein, Cory Hussar, Chengcheng Liu, Sung Yun Yu, Michelle Finnegan, Joel Trugman Feb 2025

Characterizing Prodrome (Premonitory Phase) In Migraine: Results From The Prodrome Trial Screening Period, Todd Schwedt, Richard Lipton, Peter Goadsby, Chia-Chun Chiang, Brad Klein, Cory Hussar, Chengcheng Liu, Sung Yun Yu, Michelle Finnegan, Joel Trugman

College of Nursing Faculty Papers & Presentations

BACKGROUND AND OBJECTIVE: Limited data are available describing the frequency, severity, and consistency of prodromal symptoms followed by headache. This analysis of the PRODROME trial screening period characterized prodromal symptoms in people with migraine, including the most common symptoms and their severity, and the frequency and consistency with which prodromal symptoms were followed by headache.

METHODS: PRODROME was a multicenter, randomized, double-blind, placebo-controlled, crossover trial conducted in the United States that enrolled adults with 2-8 migraine attacks per month who stated they could identify prodromal symptoms that were reliably followed by a headache. The trial included a 60-day screening period …