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Articles 181 - 210 of 723
Full-Text Articles in Neurology
A Systematic Review And Meta-Analysis Comparing The Efficacy Of Extracorporeal Shockwave Therapy To Pulsed Radio Frequency In Reducing Hemiplegic Shoulder Pain In Post-Stroke Patients, Christian Gamboa, Jonathan Elias
A Systematic Review And Meta-Analysis Comparing The Efficacy Of Extracorporeal Shockwave Therapy To Pulsed Radio Frequency In Reducing Hemiplegic Shoulder Pain In Post-Stroke Patients, Christian Gamboa, Jonathan Elias
Rowan-Virtua Research Day
Background: Stroke is the fifth leading cause of death in the United States with 162,553 deaths per year in 2023 alone. Despite technological advances, pain management post-stroke remains limited. To date, hemiplegic shoulder pain (HSP) has an 80-84% prevalence in the United States in post-stroke patients. Non-invasive treatments such as extracorporeal shockwave therapy (ESWT) and pulsed radio frequency (PRF) are commonly used modalities to manage HSP. Given this information, it is important to assess the efficacy of different interventions in order to efficiently manage pain in this patient population. To date there are no systematic reviews or meta-analyses comparing the …
Effect Of Dosage On Severity Of Dysphagia In A Toxicological Rat Model Of Parkinson's Disease, Shivam Patel, Taylor Good, Nicholas Zanghi, Francois Gould
Effect Of Dosage On Severity Of Dysphagia In A Toxicological Rat Model Of Parkinson's Disease, Shivam Patel, Taylor Good, Nicholas Zanghi, Francois Gould
Rowan-Virtua Research Day
Parkinson’s Disease (PD) is a prevalent and devastating neurodegenerative disorder that causes progressively worsening motor symptoms affecting locomotor and oropharyngeal function. There is limited research in animal models on swallowing dysfunction in PD. To examine how neurodegeneration in PD produces progressive impairment in the oropharyngeal and locomotor processes, rotenone, a type II mitochondrial inhibitor, was injected into Lewis rat models to reproduce a parkinsonian phenotype. We hypothesized that the animal models injected with the rotenone will exhibit both oropharyngeal dysfunction and locomotor deficiency with an increased deficit that correlates with prolonged treatment. We utilized 18 rats receiving either 2.75 mg/kg …
Moving On Up: A Case Study Of Hiv And Covid-Induced Guillain-Barre Syndrome, Victoria Wong Murray, Rebecca Chae, Isobel Moyer, Cindy Hou
Moving On Up: A Case Study Of Hiv And Covid-Induced Guillain-Barre Syndrome, Victoria Wong Murray, Rebecca Chae, Isobel Moyer, Cindy Hou
Rowan-Virtua Research Day
COVID and HIV are both common diseases, with COVID affecting an estimated 775 million and HIV affecting 39 million people worldwide. Guillain-Barre is a rare but feared complication of immune stimulation in which the body generates autoantibodies against gangliosides, found in the nodes of Ranvier, in the myelin, and in the ganglia; causing ascending paralysis.
A mid-30s man with HIV maintained on Genvoya presented to the Jefferson Health New Jersey Early Intervention Program clinic with fatigue, fever, cough, and congestion and tested positive for SARS-CoV-2 on the following day. Two weeks later, he presented to the emergency department complaining of …
The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra
The Impact Of Vitamin Supplementation (D, B12, B9) On Behaviors Associated With Autism Spectrum Disorder, Rohan Mehra
Rowan-Virtua Research Day
Background: One in 36 children in the United States are diagnosed with Autism Spectrum Disorder (ASD). Although heritability of the condition ranges from 40 to 80%, other factors such as vitamin levels, may have a significant impact on the risk of development. These vitamins include D, B12, and B9.
Purpose: To assess the impact vitamin supplementation has on behaviors associated with ASD, and to determine which specific aspects of ASD may be improved with vitamin supplementation.
Methods: A literature review was performed. The search was utilized PubMed, JSTOR and Web of Science. Keyword strings included: “Vitamin D B12 B9 folate …
Utilizing Microwave Ablation In Combination With Vertebroplasty Is An Effective Method In Reducing Cancer Related Back Pain, Disability, And Opioid Use: A Systematic Review And Meta-Analysis, Jonathan Elias, Lothar Vidal, Richard Jermyn
Utilizing Microwave Ablation In Combination With Vertebroplasty Is An Effective Method In Reducing Cancer Related Back Pain, Disability, And Opioid Use: A Systematic Review And Meta-Analysis, Jonathan Elias, Lothar Vidal, Richard Jermyn
Rowan-Virtua Research Day
Background: It is estimated that metastases from primary malignant neoplasms affect the spine around 30%-70% of the time. Many times, these osteolytic tumors will cause the degradation of the vertebrae, leaving patients in a tremendous amount of pain, disability, and dependence on opioids as analgesics. Microwave ablation (MWA) followed by vertebroplasties (VP) has been a developing treatment for such a condition; however, there are no systematic reviews or meta-analyses examining the method’s effectiveness thus far.
Purpose: This systematic review and meta-analysis analyzes the 4-week and 12-week outcomes of patients with metastatic spinal cancer treated with the combinatorial treatment …
Analyzing The Effectiveness Of Transcutaneous Auricular Vagus Nerve Stimulation On Parkinson’S Disease Related Gait Function: A Systematic Review And Meta-Analysis, Sami Dakhel, Jonathan Elias, Alexander King
Analyzing The Effectiveness Of Transcutaneous Auricular Vagus Nerve Stimulation On Parkinson’S Disease Related Gait Function: A Systematic Review And Meta-Analysis, Sami Dakhel, Jonathan Elias, Alexander King
Rowan-Virtua Research Day
Background: Those suffering from Parkinson’s Disease often experience a shuffling gait, alongside many other symptoms, due to the degradation of dopaminergic neurons in the substantia nigra. Transcutaneous auricular vagus nerve stimulation (taVNS) operates by non-invasively applying an electrical current to the cutaneous receptive field formed by the auricular branch of the vagus nerve in the outer ear. We sought to determine if taVNS would serve as a non-invasive alternative to addressing Parkinson’s related gait dysfunction.
Purpose: This systematic review and meta-analysis analyzes the effectiveness of taVNS on the reduction of gait dysfunction caused by Parkinson’s Disease.
Methods: The systematic review …
Case Report: What’S That Smell? Olfactory Seizures, Devin Hoover, Neelesh Parikh, James A. Espinosa, Alan Lucerna
Case Report: What’S That Smell? Olfactory Seizures, Devin Hoover, Neelesh Parikh, James A. Espinosa, Alan Lucerna
Rowan-Virtua Research Day
We report a case of a 64-year-old male who presented with transient episodes of near syncope followed by a noxious odor and was diagnosed with olfactory seizures. The differential diagnosis for near syncope is broad. This case demonstrates that unusual olfactory symptoms can lead to a diagnosis of seizure disorder in the emergency department.
Spontaneous Intracranial Hemorrhage In A 29-Year-Old Male: A Case Report, Md Fateha, Caroline Nguyen, Michael A. Morris
Spontaneous Intracranial Hemorrhage In A 29-Year-Old Male: A Case Report, Md Fateha, Caroline Nguyen, Michael A. Morris
Rowan-Virtua Research Day
Spontaneous intracranial hemorrhage is rare, especially in a young patient population. Signs and symptoms of intracranial hemorrhage include facial droop, vision loss, motor deficits with extraocular movements, deficits with tongue movement, weakness in the arms or legs, sensation loss, and mental status change. This is a case report of a 29-year-old male with no past medical history who presented for a spontaneous intracranial hemorrhage. This patient's only neurologic deficit was the loss of visual field on the left inferior quadrant of his field of vision. The patient obtained a CT head non-contrast which showed 21 mm acute right occipital hemorrhage …
Case Report: Varicella Zoster Virus Encephalitis Presenting With Monochorea, Chetna Thawani, Frank Wheeler
Case Report: Varicella Zoster Virus Encephalitis Presenting With Monochorea, Chetna Thawani, Frank Wheeler
Rowan-Virtua Research Day
Meningoencephalitis is a broad range of symptoms as a sequela of inflammation of the CNS system. It is a diagnosis that is often missed, especially in atypical presentations. We describe a case of HSV encephalitis that presented to the ER afebrile with atypical arm movements, most similar to a monochorea, and discuss other cases in the literature of atypical presentations of this disease.
Examining The Differences In Functional Outcomes For Patients With Traumatic Brain Injury After Acute Rehabilitation And Subacute Rehabilitation: A Review Of The Literature, Michael Rangel, Ashley Kakkanatt
Examining The Differences In Functional Outcomes For Patients With Traumatic Brain Injury After Acute Rehabilitation And Subacute Rehabilitation: A Review Of The Literature, Michael Rangel, Ashley Kakkanatt
Rowan-Virtua Research Day
BACKGROUND/PURPOSE
Traumatic brain injury (TBI) is one of the major causes of morbidity in the US [1-4]. Studies suggest TBI patients’ enrollment in a rehabilitation program strongly predicts social reintegration. The structure and outcomes of inpatient rehabilitation programs, including acute and subacute rehabilitation, are not well-delineated [5-7].
DESIGN
A structured review of current literature was conducted. Articles were screened using the search string: (post-traumatic brain injury OR post-TBI OR traumatic brain injury OR TBI) AND (acute rehabilitation OR subacute rehabilitation) AND (outcomes OR functional outcomes) NOT (outpatient OR outpatient populations) NOT (pediatric OR pediatric populations). Articles were limited to 1990 …
Transcranial Electrical Stimulation As A Treatment For Aging-Related Cognitive Disorders: Review Of Published Evidence, Srujan Dadi, Kyle Jackson, Don Shamilov
Transcranial Electrical Stimulation As A Treatment For Aging-Related Cognitive Disorders: Review Of Published Evidence, Srujan Dadi, Kyle Jackson, Don Shamilov
Rowan-Virtua Research Day
Alzheimer's disease (AD) and MCI are a major concern in modern neuropsychiatric care, chiefly for their difficult management. This strategic literature review categorizes MCI via the Jak-Bondi criteria and relates it to tES treatment paradigms. Commonly used outcome measures and regional brain mapping data synergizes associations between MCI pathology and potential tES treatment targets. Effect sizes were calculated and attributed to outcome measures based on primary articles evaluating the efficacy of tES. These were then corresponded to a desired Jack-Bondi classification. A better understanding of the efficacy of tES on specific brain regions in synergy with diagnostic criteria will allow …
Blood Brain Barrier Disruption And Glutamatergic Excitotoxicity In Post-Acute Sequelae Of Sars Cov-2 Infection Cognitive Impairment: Potential Biomarkers And A Window Into Pathogenesis, Joga Chaganti, Govinda Poudel, Lucette Adeline Cysique, Gregory J Dore, Anthony Kelleher, Gael Matthews, David Darley, Anthony Byrne, David Jakabek, Xin Zhang, Marrissa Lewis, Nikhil Jha, Bruce James Brew
Blood Brain Barrier Disruption And Glutamatergic Excitotoxicity In Post-Acute Sequelae Of Sars Cov-2 Infection Cognitive Impairment: Potential Biomarkers And A Window Into Pathogenesis, Joga Chaganti, Govinda Poudel, Lucette Adeline Cysique, Gregory J Dore, Anthony Kelleher, Gael Matthews, David Darley, Anthony Byrne, David Jakabek, Xin Zhang, Marrissa Lewis, Nikhil Jha, Bruce James Brew
Department of Medicine Faculty Papers
Objective: To investigate the association between blood–brain barrier permeability, brain metabolites, microstructural integrity of the white matter, and cognitive impairment (CI) in post-acute sequelae of SARS-COV-2 infection (PASC).
Methods: In this multimodal longitudinal MRI study 14 PASC participants with CI and 10 healthy controls were enrolled. All completed investigations at 3 months following acute infection (3 months ± 2 weeks SD), and 10 PASC participants completed at 12 months ± 2.22 SD weeks. The assessments included a standard neurological assessment, a cognitive screen using the brief CogState battery and multi-modal MRI derived metrics from Dynamic contrast enhanced (DCE) perfusion Imaging, …
Cerebral Venous Sinus Thrombosis (Cvst): A Retrospective Study, Nia Acharya
Cerebral Venous Sinus Thrombosis (Cvst): A Retrospective Study, Nia Acharya
Theses/Capstones/Creative Projects
This retrospective study investigates the long-term management of Cerebral Venous Sinus Thrombosis (CVST) in 51 patients over a 3-month follow-up. The analysis covers demographics, risk factors, CVST presentation, associated diseases, thrombophilia, laboratory results, and antithrombotic treatments. CVST, a rare thrombosis of dural/cerebral sinuses, poses life-threatening risks with an annual incidence aligning with literature, notably affecting young individuals. Underlying causes range from rare disorders to common triggers, complicating diagnosis, especially during pregnancy. Imaging techniques aid diagnosis, with systemic anticoagulation preferred despite bleeding risks. Noteworthy findings include a higher incidence in women, predominantly presenting with headaches. Two cases of vaccine-induced immune thrombotic …
Montelukast As A Repurposable Additive Drug For Standard-Efficacy Multiple Sclerosis Treatment: Emulating Clinical Trials With Retrospective Administrative Health Claims Data, Astrid M Manuel, Assaf Gottlieb, Leorah Freeman, Zhongming Zhao
Montelukast As A Repurposable Additive Drug For Standard-Efficacy Multiple Sclerosis Treatment: Emulating Clinical Trials With Retrospective Administrative Health Claims Data, Astrid M Manuel, Assaf Gottlieb, Leorah Freeman, Zhongming Zhao
Faculty, Staff and Student Publications
BACKGROUND: Effective and safe treatment options for multiple sclerosis (MS) are still needed. Montelukast, a leukotriene receptor antagonist (LTRA) currently indicated for asthma or allergic rhinitis, may provide an additional therapeutic approach.
OBJECTIVE: The study aimed to evaluate the effects of montelukast on the relapses of people with MS (pwMS).
METHODS: In this retrospective case-control study, two independent longitudinal claims datasets were used to emulate randomized clinical trials (RCTs). We identified pwMS aged 18-65 years, on MS disease-modifying therapies concomitantly, in de-identified claims from Optum's Clinformatics
RESULTS: pwMS treated with montelukast demonstrated a statistically significant 23.6% reduction in relapses compared …
Multimodal Neurologic Monitoring In Patients Undergoing Extracorporeal Membrane Oxygenation, Khwaja Siddiqui, Muhammad U Hafeez, Ali Ahmad, Syed O Kazmi, Subhasis Chatterjee, Eric Bershad, Mohammad Hirzallah, Chethan Rao, Rahul Damani
Multimodal Neurologic Monitoring In Patients Undergoing Extracorporeal Membrane Oxygenation, Khwaja Siddiqui, Muhammad U Hafeez, Ali Ahmad, Syed O Kazmi, Subhasis Chatterjee, Eric Bershad, Mohammad Hirzallah, Chethan Rao, Rahul Damani
Faculty, Staff and Students Publications
Introduction Extracorporeal membrane oxygenation (ECMO) is associated with a high rate of neurologic complications. Multimodal neurologic monitoring (MNM) has the potential for early detection and intervention. We examined the safety and feasibility of noninvasive MNM during ECMO. We hypothesized that survivors and non-survivors would have meaningful differences in transcranial Doppler (TCD) sonography and electroencephalographic (EEG) characteristics, which we aimed to identify. We also investigated adverse neurologic events and attempted to identify differences in EEG and TCD characteristics among patients based on the type of ECMO and the occurrence of these events. Material and methods We performed an observational study on …
Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong
Piezo1 Regulates Meningeal Lymphatic Vessel Drainage And Alleviates Excessive Csf Accumulation, Dongwon Choi, Eunkyung Park, Joshua Choi, Renhao Lu, Jin Suh Yu, Chiyoon Kim, Luping Zhao, James Yu, Brandon Nakashima, Sunju Lee, Dhruv Singhal, Joshua P Scallan, Bin Zhou, Chester J Koh, Esak Lee, Young-Kwon Hong
Faculty, Staff and Students Publications
Piezo1 regulates multiple aspects of the vascular system by converting mechanical signals generated by fluid flow into biological processes. Here, we find that Piezo1 is necessary for the proper development and function of meningeal lymphatic vessels and that activating Piezo1 through transgenic overexpression or treatment with the chemical agonist Yoda1 is sufficient to increase cerebrospinal fluid (CSF) outflow by improving lymphatic absorption and transport. The abnormal accumulation of CSF, which often leads to hydrocephalus and ventriculomegaly, currently lacks effective treatments. We discovered that meningeal lymphatics in mouse models of Down syndrome were incompletely developed and abnormally formed. Selective overexpression of …
Hippocampus Diffusivity Abnormalities In Classical Trigeminal Neuralgia, Shaun Andrew Hanycz, Alborz Noorani, Peter Shih-Ping Hung, Matthew R. Walker, Ashley B. Zhang, Timur H. Latypov, Mojgan Hodaie
Hippocampus Diffusivity Abnormalities In Classical Trigeminal Neuralgia, Shaun Andrew Hanycz, Alborz Noorani, Peter Shih-Ping Hung, Matthew R. Walker, Ashley B. Zhang, Timur H. Latypov, Mojgan Hodaie
Student Papers, Posters & Projects
INTRODUCTION: Patients with chronic pain frequently report cognitive symptoms that affect memory and attention, which are functions attributed to the hippocampus. Trigeminal neuralgia (TN) is a chronic neuropathic pain disorder characterized by paroxysmal attacks of unilateral orofacial pain. Given the stereotypical nature of TN pain and lack of negative symptoms including sensory loss, TN provides a unique model to investigate the hippocampal implications of chronic pain. Recent evidence demonstrated that TN is associated with macrostructural hippocampal abnormalities indicated by reduced subfield volumes; however, there is a paucity in our understanding of hippocampal microstructural abnormalities associated with TN.
OBJECTIVES: To explore …
Translation And Validation Of The Health Literacy Score-14 Questionnaire For Vietnamese Patients With Diabetes, Khoa Tuan Vo, Khue Thy Nguyen, Hirohide Yokokawa, Aya Goto, Toshio Naito
Translation And Validation Of The Health Literacy Score-14 Questionnaire For Vietnamese Patients With Diabetes, Khoa Tuan Vo, Khue Thy Nguyen, Hirohide Yokokawa, Aya Goto, Toshio Naito
Faculty, Staff and Student Publications
Introduction:
Health literacy (HL) is a crucial indicator for health promotion and diabetes care improvement, but the available measurements are mostly in English. This study aimed to translate and validate the 14-item Health Literacy Scale (HLS-14) questionnaire from English to Vietnamese for patients with diabetes in Vietnam.
Methods:
We translated HLS-14 into Vietnamese in accordance with the World Health Organization guidelines and conducted a cross-sectional survey among 571 outpatients with type 2 diabetes using the HLS-14 Vietnamese version (HLS-14 VN). The reliability and validity of the tool were assessed using Cronbach’s alpha, composite reliability (CR), average variance extracted (AVE), and …
Idiopathic Intracranial Hypertension After Abrupt Cessation Of Medication: A Case Report Of Abrupt Glucagon-Like Peptide-1 (Glp-1) Receptor Agonist Cessation And Review Of The Literature, Brittany Heckel
Department of Jefferson Headache Center Papers and Presentations
PURPOSE OF REVIEW: The purpose of this review is two-fold: (1) to discuss a case report of idiopathic intracranial hypertension (IIH) after abrupt cessation of a glucagon-like peptide-1 (GLP-1) receptor agonist with resultant rapid weight gain and (2) to review the literature regarding the potential role of GLP-1 receptor agonists in the treatment of IIH as well as potential pitfalls.
RECENT FINDINGS: GLP-1 receptor agonists have become widely used to treat obesity. Obesity is a known risk factor for the development of IIH, though the precise pathophysiology is unclear. GLP-1 receptor agonists may help treat IIH by promoting weight loss, …
Dysexecutive Difficulty And Subtle Everyday Functional Disabilities: The Digital Trail Making Test, David J Libon, Rod Swenson, Sean Tobyne, Ali Jannati, Daniel Schulman, Catherine C Price, Melissa Lamar, Alvaro Pascual-Leone
Dysexecutive Difficulty And Subtle Everyday Functional Disabilities: The Digital Trail Making Test, David J Libon, Rod Swenson, Sean Tobyne, Ali Jannati, Daniel Schulman, Catherine C Price, Melissa Lamar, Alvaro Pascual-Leone
Rowan-Virtua School of Osteopathic Medicine Departmental Research
BACKGROUND: Digital neuropsychological tests reliably capture real-time, process-based behavior that traditional paper/pencil tests cannot detect, enabling earlier detection of neurodegenerative illness. We assessed relations between informant-based subtle and mild functional decline and process-based features extracted from the digital Trail Making Test-Part B (dTMT-B).
METHODS: A total of 321 community-dwelling participants (56.0% female) were assessed with the Functional Activities Questionnaire (FAQ) and the dTMT-B. Three FAQ groups were constructed: FAQ = 0 (unimpaired); FAQ = 1-4 (subtle impairment); FAQ = 5-8 (mild impairment).
Results: Compared to the FAQ-unimpaired group, other groups required longer pauses inside target circles (p < 0.050) and produced more total pen strokes to complete the test (p < 0.016). FAQ-subtle participants required more time to complete the entire test (p …
Risk Factors For In-Hospital Seizure And New-Onset Epilepsy In Coiling And Clipping Treatment Of Aneurysmal Subarachnoid Hemorrhage, Viet-Thang Le, Anh Minh Nguyen, Phuc Long Nguyen
Risk Factors For In-Hospital Seizure And New-Onset Epilepsy In Coiling And Clipping Treatment Of Aneurysmal Subarachnoid Hemorrhage, Viet-Thang Le, Anh Minh Nguyen, Phuc Long Nguyen
Faculty, Staff and Student Publications
OBJECTIVE: To identify risk factors associated with in-hospital seizures and new-onset epilepsy in patients with aneurysmal subarachnoid hemorrhage (SAH) who underwent coiling embolization or clipping surgery.
METHODS: This retrospective descriptive study included 195 patients diagnosed with aneurysmal SAH and treated with coiling embolization or clipping surgery between January 2018 and June 2022.
RESULTS: Among the 195 patients meeting inclusion criteria, 9 experienced an onset seizure at the time of SAH. In-hospital seizures were observed in 33 patients, of which 24 were electrographic seizures detected in 24 patients with suspected subclinical seizures. After 12 months of follow-up, 11 patients met criteria …
Sans-Cnn: An Automated Machine Learning Technique For Spaceflight Associated Neuro-Ocular Syndrome With Astronaut Imaging Data, Sharif Amit Kamran, Khondker Fariha Hossain, Joshua Ong, Nasif Zaman, Ethan Waisberg, Phani Paladugu, Andrew Lee, Alireza Tavakkoli
Sans-Cnn: An Automated Machine Learning Technique For Spaceflight Associated Neuro-Ocular Syndrome With Astronaut Imaging Data, Sharif Amit Kamran, Khondker Fariha Hossain, Joshua Ong, Nasif Zaman, Ethan Waisberg, Phani Paladugu, Andrew Lee, Alireza Tavakkoli
SKMC Student Presentations and Publications
Spaceflight associated neuro-ocular syndrome (SANS) is one of the largest physiologic barriers to spaceflight and requires evaluation and mitigation for future planetary missions. As the spaceflight environment is a clinically limited environment, the purpose of this research is to provide automated, early detection and prognosis of SANS with a machine learning model trained and validated on astronaut SANS optical coherence tomography (OCT) images. In this study, we present a lightweight convolutional neural network (CNN) incorporating an EfficientNet encoder for detecting SANS from OCT images titled "SANS-CNN." We used 6303 OCT B-scan images for training/validation (80%/20% split) and 945 for testing …
Edge-Wise Analysis Reveals White Matter Connectivity Associated With Focal To Bilateral Tonic-Clonic Seizures, Sam S. Javidi, Xiaosong He, Ankeeta Ankeeta, Qirui Zhang, Salvatore Citro, Michael R. Sperling, Joseph I. Tracy
Edge-Wise Analysis Reveals White Matter Connectivity Associated With Focal To Bilateral Tonic-Clonic Seizures, Sam S. Javidi, Xiaosong He, Ankeeta Ankeeta, Qirui Zhang, Salvatore Citro, Michael R. Sperling, Joseph I. Tracy
Farber Institute for Neuroscience Faculty Papers
OBJECTIVE: Focal to bilateral tonic-clonic seizures (FBTCS) represent a challenging subtype of focal temporal lobe epilepsy (TLE) in terms of both severity and treatment response. Most studies have focused on regional brain analysis that is agnostic to the distribution of white matter (WM) pathways associated with a node. We implemented a more selective, edge-wise approach that allowed for identification of the individual connections unique to FBTCS.
METHODS: T1-weighted and diffusion-weighted images were obtained from 22 patients with solely focal seizures (FS), 43 FBTCS patients, and 65 age/sex-matched healthy participants (HPs), yielding streamline (STR) connectome matrices. We used diffusion tensor-derived STRs …
Mapping Sca1 Regional Vulnerabilities Reveals Neural And Skeletal Muscle Contributions To Disease, Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Yun You, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Orr
Mapping Sca1 Regional Vulnerabilities Reveals Neural And Skeletal Muscle Contributions To Disease, Lisa Duvick, W Michael Southern, Kellie A Benzow, Zoe N Burch, Hillary P Handler, Jason S Mitchell, Hannah Kuivinen, Udaya Gadiparthi, Praseuth Yang, Alyssa Soles, Carrie A Sheeler, Orion Rainwater, Shannah Serres, Erin B Lind, Tessa Nichols-Meade, Yun You, Brennon O'Callaghan, Huda Y Zoghbi, Marija Cvetanovic, Vanessa C Wheeler, James M Ervasti, Michael D Koob, Harry T Orr
Duncan NRI Faculty and Staff Publications
Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an expanded polyglutamine tract in the widely expressed ataxin-1 (ATXN1) protein. To elucidate anatomical regions and cell types that underlie mutant ATXN1-induced disease phenotypes, we developed a floxed conditional knockin mouse (f-ATXN1146Q/2Q) with mouse Atxn1 coding exons replaced by human ATXN1 exons encoding 146 glutamines. f-ATXN1146Q/2Q mice manifested SCA1-like phenotypes including motor and cognitive deficits, wasting, and decreased survival. Central nervous system (CNS) contributions to disease were revealed using f-ATXN1146Q/2Q;Nestin-Cre mice, which showed improved rotarod, open field, and Barnes maze performance by 6-12 weeks of age. In contrast, …
A Structured, Journal-Led Peer-Review Mentoring Program Enhances Peer Review Training, Ariel Maia Lyons-Warren, Whitley W Aamodt, Kathleen M Pieper, Roy E Strowd
A Structured, Journal-Led Peer-Review Mentoring Program Enhances Peer Review Training, Ariel Maia Lyons-Warren, Whitley W Aamodt, Kathleen M Pieper, Roy E Strowd
Faculty, Staff and Students Publications
BACKGROUND: Peer review is essential to the advancement of knowledge. However, training on how to conduct peer review is limited, unorganized, and not well studied. Thus, we sought to determine if a structured mentored peer-review program improved peer review training as measured by multiple quantitative and qualitative assessments.
METHODS: This pre-post intervention study enrolled 55 mentees across 5 cohorts from 2020 to 2023. Each cohort completed pre-program evaluations, participated in 2 mentored reviews, and completed post-program evaluations over 6 months. Mentors and mentees completed pre-program demographic and review experience questionnaires. Outcome measures included (1) total and sub-scores on the modified …
Heterogeneity And Overlap In The Continuum Of Linguistic Profile Of Logopenic And Semantic Variants Of Primary Progressive Aphasia: A Profile Analysis Based On Multidimensional Scaling Study, Gaia Chiara Santi, Francesca Conca, Valentina Esposito, Cristina Polito, Silvia Paola Caminiti, Cecilia Boccalini, Carmen Morinelli, Valentina Berti, Salvatore Mazzeo, Valentina Bessi, Alessandra Marcone, Sandro Iannaccone, Se-Kang Kim, Sandro Sorbi, Daniela Perani, Stefano F Cappa, Eleonora Catricalà
Heterogeneity And Overlap In The Continuum Of Linguistic Profile Of Logopenic And Semantic Variants Of Primary Progressive Aphasia: A Profile Analysis Based On Multidimensional Scaling Study, Gaia Chiara Santi, Francesca Conca, Valentina Esposito, Cristina Polito, Silvia Paola Caminiti, Cecilia Boccalini, Carmen Morinelli, Valentina Berti, Salvatore Mazzeo, Valentina Bessi, Alessandra Marcone, Sandro Iannaccone, Se-Kang Kim, Sandro Sorbi, Daniela Perani, Stefano F Cappa, Eleonora Catricalà
Faculty, Staff and Students Publications
BACKGROUND: Primary progressive aphasia (PPA) diagnostic criteria underestimate the complex presentation of semantic (sv) and logopenic (lv) variants, in which symptoms partially overlap, and mixed clinical presentation (mixed-PPA) and heterogenous profile (lvPPA +) are frequent. Conceptualization of similarities and differences of these clinical conditions is still scarce.
METHODS: Lexical, semantic, phonological, and working memory errors from nine language tasks of sixty-seven PPA were analyzed using Profile Analysis based on Multidimensional Scaling, which allowed us to create a distributed representation of patients' linguistic performance in a shared space. Patients had been studied with [
RESULTS: Patients' profiles were distributed across a …
The Utility Of Interventional Anesthesia, Kylie Daguio, Kiley Jackson, Samantha Boever, Andrew Chang, James Keane, Leonard B. Goldstein
The Utility Of Interventional Anesthesia, Kylie Daguio, Kiley Jackson, Samantha Boever, Andrew Chang, James Keane, Leonard B. Goldstein
SOMA Faculty Publications
no abstract
Quantification And Visualization Of Cis-Regulatory Dynamics In Single-Cell Multi-Omics Data With Treasmo, Chaozhong Liu, Linhua Wang, Zhandong Liu
Quantification And Visualization Of Cis-Regulatory Dynamics In Single-Cell Multi-Omics Data With Treasmo, Chaozhong Liu, Linhua Wang, Zhandong Liu
Faculty, Staff and Students Publications
Recent advances in single-cell multi-omics technologies have provided unprecedented insights into regulatory processes. We introduce TREASMO, a versatile Python package designed to quantify and visualize transcriptional regulatory dynamics in single-cell multi-omics datasets. TREASMO has four modules, spanning data preparation, correlation quantification, downstream analysis and visualization, enabling comprehensive dataset exploration. By introducing a novel single-cell gene-peak correlation strength index, TREASMO facilitates accurate identification of regulatory changes at single-cell resolution. Validation on a hematopoietic stem and progenitor cell dataset showcases TREASMO's capacity in quantifying the gene-peak correlation strength at the single-cell level, identifying regulatory markers and discovering temporal regulatory patterns along the …
Retinal Thickness In Essential Tremor And Early Parkinson Disease: Exploring Diagnostic Insights, Claudio Terravecchia, Giovanni Mostile, Clara G Chisari, Cristina Rascunà, Roberta Terranova, Calogero E Cicero, Loretta Giuliano, Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Pierre-Marie Preux, Joseph Jankovic, Mario Zappia, Alessandra Nicoletti
Retinal Thickness In Essential Tremor And Early Parkinson Disease: Exploring Diagnostic Insights, Claudio Terravecchia, Giovanni Mostile, Clara G Chisari, Cristina Rascunà, Roberta Terranova, Calogero E Cicero, Loretta Giuliano, Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Pierre-Marie Preux, Joseph Jankovic, Mario Zappia, Alessandra Nicoletti
Faculty, Staff and Students Publications
BACKGROUND: Essential tremor (ET) represents a heterogeneous condition which may overlap with Parkinson disease (PD) even at early stages, by sharing some subtle clinical aspects. Longstanding ET demonstrated also higher risk of developing PD, especially with a Tremor-dominant (TD-PD) phenotype. Therefore, differential diagnosis between ET and early PD could be quite challenging. Optical coherence tomography (OCT) has been recognized as a reliable tool to assess the retina as a proxy of neurodegeneration. We aimed to explore the possible role of retinal assessment in differential diagnosis between ET and early PD.
METHODS: Macular layers and peripapillary retinal nerve fiber layer (RNFL) …
Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage
Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage
Faculty, Staff and Students Publications
Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. …