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Full-Text Articles in Medicine and Health Sciences

Safety Of Lenadogene Nolparvovec Gene Therapy Over 5 Years In 189 Patients With Leber Hereditary Optic Neuropathy, Catherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J. Newman, Valerio Carelli, Mark L. Moster, Valerie Biousse, Prem S. Subramanian, An-Guor Wang, Sean P. Donahue, Bart P. Leroy, Alfredo A. Sadun, Thomas Klopstock, Robert C. Sergott, Gema Rebolleda Fernandez, Bart K. Chwalisz, Rudrani Banik, Magali Taiel, Michel Roux, José-Alain Sahel Dec 2022

Safety Of Lenadogene Nolparvovec Gene Therapy Over 5 Years In 189 Patients With Leber Hereditary Optic Neuropathy, Catherine Vignal-Clermont, Patrick Yu-Wai-Man, Nancy J. Newman, Valerio Carelli, Mark L. Moster, Valerie Biousse, Prem S. Subramanian, An-Guor Wang, Sean P. Donahue, Bart P. Leroy, Alfredo A. Sadun, Thomas Klopstock, Robert C. Sergott, Gema Rebolleda Fernandez, Bart K. Chwalisz, Rudrani Banik, Magali Taiel, Michel Roux, José-Alain Sahel

Wills Eye Hospital Papers

Purpose

To evaluate the safety profile of lenadogene nolparvovec (Lumevoq) in patients with Leber hereditary optic neuropathy.

Design

Pooled analysis of safety data from 5 clinical studies.

Methods

A total of 189 patients received single unilateral or bilateral intravitreal injections of a recombinant adeno-associated virus 2 (rAAV2/2) vector encoding the human wild-type ND4 gene. Adverse events (AEs) were collected throughout the studies, up to 5 years. Intraocular inflammation and increased intraocular pressure (IOP) were ocular AEs of special interest. Other assessments included ocular examinations, vector bio-dissemination, and systemic immune responses against rAAV2/2.

Results

Almost all patients (95.2%) received 9 × …


Amplitude Synchronization Of Spontaneous Activity Of Medial And Lateral Temporal Gyri Reveals Altered Thalamic Connectivity In Patients With Temporal Lobe Epilepsy, Anish V. Sathe, Michael Kogan, Kichang Kang, Jingya Miao, Mashaal Syed, Isaiah Ailes, Caio M. Matias, Devon Middleton, Feroze B. Mohamed, Scott Faro, Joseph Tracy, Ashwini Sharan, Mahdi Alizadeh Nov 2022

Amplitude Synchronization Of Spontaneous Activity Of Medial And Lateral Temporal Gyri Reveals Altered Thalamic Connectivity In Patients With Temporal Lobe Epilepsy, Anish V. Sathe, Michael Kogan, Kichang Kang, Jingya Miao, Mashaal Syed, Isaiah Ailes, Caio M. Matias, Devon Middleton, Feroze B. Mohamed, Scott Faro, Joseph Tracy, Ashwini Sharan, Mahdi Alizadeh

Department of Neurosurgery Faculty Papers

In this study, we examined whether amplitude synchronization of medial (MTL) and lateral (LTL) temporal lobes can detect unique alterations in patients with MTL epilepsy (mTLE) with mesial temporal sclerosis (MTS). This was a retrospective study of preoperative resting-state fMRI (rsfMRI) data from 31 patients with mTLE with MTS (age 23-69) and 16 controls (age 21-35). fMRI data were preprocessed based on a multistep preprocessing pipeline and registered to a standard space. Using each subject's T1-weighted scan, the MTL and LTL were automatically segmented, manually revised and then fit to a standard space using a symmetric normalization registration algorithm. Dual …


Association Of Noncontrast Computed Tomography And Perfusion Modalities With Outcomes In Patients Undergoing Late-Window Stroke Thrombectomy, Guilherme B F Porto, Ching-Jen Chen, Sami Al Kasab, Muhammed Amir Essibayi, Eyad Almallouhi, Zachary Hubbard, Reda Chalhoub, Ali Alawieh, Ilko Maier, Marios-Nikos Psychogios, Stacey Q Wolfe, Pascal Jabbour, Ansaar Rai, Robert M Starke, Amir Shaban, Adam Arthur, Joon-Tae Kim, Shinichi Yoshimura, Jonathan Grossberg, Peter Kan, Isabel Fragata, Adam Polifka, Joshua Osbun, Justin Mascitelli, Michael R Levitt, Richard Williamson, Daniele G Romano, Roberto Crosa, Benjamin Gory, Maxim Mokin, Kaustubh S Limaye, Walter Casagrande, Mark Moss, Ramesh Grandhi, Albert Yoo, Alejandro M Spiotta, Min S Park Nov 2022

Association Of Noncontrast Computed Tomography And Perfusion Modalities With Outcomes In Patients Undergoing Late-Window Stroke Thrombectomy, Guilherme B F Porto, Ching-Jen Chen, Sami Al Kasab, Muhammed Amir Essibayi, Eyad Almallouhi, Zachary Hubbard, Reda Chalhoub, Ali Alawieh, Ilko Maier, Marios-Nikos Psychogios, Stacey Q Wolfe, Pascal Jabbour, Ansaar Rai, Robert M Starke, Amir Shaban, Adam Arthur, Joon-Tae Kim, Shinichi Yoshimura, Jonathan Grossberg, Peter Kan, Isabel Fragata, Adam Polifka, Joshua Osbun, Justin Mascitelli, Michael R Levitt, Richard Williamson, Daniele G Romano, Roberto Crosa, Benjamin Gory, Maxim Mokin, Kaustubh S Limaye, Walter Casagrande, Mark Moss, Ramesh Grandhi, Albert Yoo, Alejandro M Spiotta, Min S Park

Department of Neurosurgery Faculty Papers

Importance: There is substantial controversy with regards to the adequacy and use of noncontrast head computed tomography (NCCT) for late-window acute ischemic stroke in selecting candidates for mechanical thrombectomy.

Objective: To assess clinical outcomes of patients with acute ischemic stroke presenting in the late window who underwent mechanical thrombectomy stratified by NCCT admission in comparison with selection by CT perfusion (CTP) and diffusion-weighted imaging (DWI).

Design, setting, and participants: In this multicenter retrospective cohort study, prospectively maintained Stroke Thrombectomy and Aneurysm (STAR) database was used by selecting patients within the late window of acute ischemic stroke and emergent large vessel …


Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk Oct 2022

Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk

Department of Pediatrics Faculty Papers

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a …


Outcomes Of Children With Low-Grade Gliomas In Low- And Middle-Income Countries: A Systematic Review, Richard Ward, Hannah M Jones, Davis Witt, Frederick Boop, Eric Bouffet, Carlos Rodriguez-Galindo, Ibrahim Qaddoumi, Daniel C Moreira Oct 2022

Outcomes Of Children With Low-Grade Gliomas In Low- And Middle-Income Countries: A Systematic Review, Richard Ward, Hannah M Jones, Davis Witt, Frederick Boop, Eric Bouffet, Carlos Rodriguez-Galindo, Ibrahim Qaddoumi, Daniel C Moreira

Department of Medical Oncology Faculty Papers

Purpose: Pediatric CNS tumors are increasingly a priority, particularly with the WHO designation of low-grade glioma (LGG) as one of six index childhood cancers. There are currently limited data on outcomes of pediatric patients with LGGs in low- and middle-income countries (LMICs).

Methods: To better understand the outcomes of LGGs in LMICs, this systematic review interrogated nine literature databases.

Results: The search identified 14,977 publications. Sixteen studies from 19 countries met the selection criteria and were included for data abstraction and analysis. Eleven studies (69%) were retrospective reviews from single institutions, and one (6%) captured institutional data prospectively. The studies …


Bridging Thrombolysis In Atrial Fibrillation Stroke Is Associated With Increased Hemorrhagic Complications Without Improved Outcomes, Feras Akbik, Ali Alawieh, Laurie Dimisko, Brian M. Howard, C Michael Cawley, Frank C. Tong, Fadi Nahab, Owen B. Samuels, Ilko Maier, Wuwei Feng, Nitin Goyal, Robert M. Starke, Ansaar Rai, Kyle M. Fargen, Marios N. Psychogios, Pascal Jabbour, Reade De Leacy, Saleh G. Keyrouz, Travis M. Dumont, Peter Kan, Jan Liman, Adam S. Arthur, Stacey Q. Wolfe, J. Mocco, Roberto Javier Crosa, W Christopher Fox, Benjamin Gory, Alejandro M. Spiotta, Jonathan A. Grossberg Sep 2022

Bridging Thrombolysis In Atrial Fibrillation Stroke Is Associated With Increased Hemorrhagic Complications Without Improved Outcomes, Feras Akbik, Ali Alawieh, Laurie Dimisko, Brian M. Howard, C Michael Cawley, Frank C. Tong, Fadi Nahab, Owen B. Samuels, Ilko Maier, Wuwei Feng, Nitin Goyal, Robert M. Starke, Ansaar Rai, Kyle M. Fargen, Marios N. Psychogios, Pascal Jabbour, Reade De Leacy, Saleh G. Keyrouz, Travis M. Dumont, Peter Kan, Jan Liman, Adam S. Arthur, Stacey Q. Wolfe, J. Mocco, Roberto Javier Crosa, W Christopher Fox, Benjamin Gory, Alejandro M. Spiotta, Jonathan A. Grossberg

Department of Neurosurgery Faculty Papers

BACKGROUND: Atrial fibrillation (AF) associated ischemic stroke is associated with worse functional outcomes, less effective recanalization, and increased rates of hemorrhagic complications after intravenous thrombolysis (IVT). Conversely, AF is not associated with hemorrhagic complications or functional outcomes in patients undergoing mechanical thrombectomy (MT). This differential effect of MT and IVT in AF associated stroke raises the question of whether bridging thrombolysis increases hemorrhagic complications in AF patients undergoing MT.

METHODS: This international cohort study of 22 comprehensive stroke centers analyzed patients with large vessel occlusion (LVO) undergoing MT between June 1, 2015 and December 31, 2020. Patients were divided into …


Pharmacokinetic Evaluation Of Intravenous Vitamin C: A Classic Pharmacokinetic Study., Ping Chen, Greg Reed, Joyce Jiang, Yaohui Wang, Jean Sunega, Ruochen Dong, Yan Ma, Anna E. Esparham, Ryan Ferrell, Mark Levine, Jeanne Drisko, Qi Chen Sep 2022

Pharmacokinetic Evaluation Of Intravenous Vitamin C: A Classic Pharmacokinetic Study., Ping Chen, Greg Reed, Joyce Jiang, Yaohui Wang, Jean Sunega, Ruochen Dong, Yan Ma, Anna E. Esparham, Ryan Ferrell, Mark Levine, Jeanne Drisko, Qi Chen

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Intravenous vitamin C (IVC) is used in a variety of disorders with limited supporting pharmacokinetic data. Herein we report a pharmacokinetic study in healthy volunteers and cancer participants with IVC doses in the range of 1-100 g.

Methods: A pharmacokinetic study was conducted in 21 healthy volunteers and 12 oncology participants. Healthy participants received IVC infusions of 1-100 g; oncology participants received IVC infusions of 25-100 g. Serial blood and complete urine samples were collected pre-infusion and for 24 h post-infusion. Pharmacokinetic parameters were computed using noncompartmental methods. Adverse events were monitored during the study.

Results: In both cohorts, …


Long-Term Effectiveness Of Ivig Maintenance Therapy In 36 Patients With Gad Antibody-Positive Stiff-Person Syndrome., Jessica Yi, Marinos Dalakas Sep 2022

Long-Term Effectiveness Of Ivig Maintenance Therapy In 36 Patients With Gad Antibody-Positive Stiff-Person Syndrome., Jessica Yi, Marinos Dalakas

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: IVIg has been the preferred immunotherapy in stiff-person syndrome (SPS) based on a 3-month controlled trial, but whether it is also effective in inducing long-term benefits or arresting disease progression is unknown. The information is needed because SPS is a progressively disabling disease and IVIg is liberally used as chronic therapy without efficacy data. The present study explores the long-term effects of IVIg in the largest cohort of well-characterized patients with SPS followed by the same clinicians over 10 years.

METHODS: Data of 36 patients (32 glutamic acid decarboxylase [GAD] positive), diagnosed and treated with monthly maintenance …


B- And T-Cell Subset Abnormalities In Monogenic Common Variable Immunodeficiency, Saba Fekrvand, Shaghayegh Khanmohammadi, Hassan Abolhassani, Reza Yazdani Jun 2022

B- And T-Cell Subset Abnormalities In Monogenic Common Variable Immunodeficiency, Saba Fekrvand, Shaghayegh Khanmohammadi, Hassan Abolhassani, Reza Yazdani

Department of Neurology Faculty Papers

Common variable immunodeficiency (CVID) is a heterogeneous group of inborn errors of immunity characterized by reduced serum concentrations of different immunoglobulin isotypes. CVID is the most prevalent symptomatic antibody deficiency with a broad range of infectious and non-infectious clinical manifestations. Various genetic and immunological defects are known to be involved in the pathogenesis of CVID. Monogenic defects account for the pathogenesis of about 20-50% of CVID patients, while a variety of cases do not have a defined genetic background. Deficiencies in molecules of B cell receptor signaling or other pathways involving B-cell development, activation, and proliferation could be associated with …


Development Of A Core Measurement Set For Research In Degenerative Cervical Myelopathy: A Study Protocol (Ao Spine Recode-Dcm Cms), Benjamin M Davies, Alvaro Yanez Touzet, Oliver D Mowforth, Keng Siang Lee, Danyal Khan, Julio C Furlan, Michael G Fehlings, James Harrop, Carl Moritz Zipser, Ricardo Rodrigues-Pinto, James Milligan, Ellen Sarewitz, Armin Curt, Vafa Rahimi-Movaghar, Bizhan Aarabi, Timothy F Boerger, Lindsay Tetreault, Robert Chen, James D Guest, Sukhvinder Kalsi-Ryan, Iwan Sadler, Shirley Widdop, Angus G K Mcnair, Brian K Kwon, Mark R N Kotter Jun 2022

Development Of A Core Measurement Set For Research In Degenerative Cervical Myelopathy: A Study Protocol (Ao Spine Recode-Dcm Cms), Benjamin M Davies, Alvaro Yanez Touzet, Oliver D Mowforth, Keng Siang Lee, Danyal Khan, Julio C Furlan, Michael G Fehlings, James Harrop, Carl Moritz Zipser, Ricardo Rodrigues-Pinto, James Milligan, Ellen Sarewitz, Armin Curt, Vafa Rahimi-Movaghar, Bizhan Aarabi, Timothy F Boerger, Lindsay Tetreault, Robert Chen, James D Guest, Sukhvinder Kalsi-Ryan, Iwan Sadler, Shirley Widdop, Angus G K Mcnair, Brian K Kwon, Mark R N Kotter

Department of Neurosurgery Faculty Papers

Introduction: Progress in degenerative cervical myelopathy (DCM) is hindered by inconsistent measurement and reporting. This impedes data aggregation and outcome comparison across studies. This limitation can be reversed by developing a core measurement set (CMS) for DCM research. Previously, the AO Spine Research Objectives and Common Data Elements for DCM (AO Spine RECODE-DCM) defined 'what' should be measured in DCM: the next step of this initiative is to determine 'how' to measure these features. This protocol outlines the steps necessary for the development of a CMS for DCM research and audit.

Methods and analysis: The CMS will be developed in …


Adopting Clinical Practice Guidelines For Pharmacologic Management Of Acute Spinal Cord Injury From A Developed World Context To A Developing Global Region, Seyed Behnam Jazayeri, Seyed Farzad Maroufi, Zahra Ghodsi, Heshmatollah Ghawami, Ahmad Pourrashidi, Abbas Amirjamshidi, Mojtaba Mojtahedzadeh, Jalil Arabkheradmand, Farzin Farahbakhsh, Maryam Shabany, Morteza Faghih-Jouibari, Michael G Fehlings, Brian K Kwon, James Harrop, Vafa Rahimi-Movaghar Jun 2022

Adopting Clinical Practice Guidelines For Pharmacologic Management Of Acute Spinal Cord Injury From A Developed World Context To A Developing Global Region, Seyed Behnam Jazayeri, Seyed Farzad Maroufi, Zahra Ghodsi, Heshmatollah Ghawami, Ahmad Pourrashidi, Abbas Amirjamshidi, Mojtaba Mojtahedzadeh, Jalil Arabkheradmand, Farzin Farahbakhsh, Maryam Shabany, Morteza Faghih-Jouibari, Michael G Fehlings, Brian K Kwon, James Harrop, Vafa Rahimi-Movaghar

Department of Neurosurgery Faculty Papers

Background: Proper utilization of high-quality clinical practice guidelines (CPGs) eliminates the dependence of patients' outcomes on the ability and knowledge of "individual" health care providers and reduces unwarranted variation in care. The aim of this study was to adapt/adopt two CPGs for pharmacologic management of acute spinal cord injury (SCI) using guideline adaptation methods.

Methods: This study was conducted based on the ADAPTE process. Following establishment of an organizing committee and choosing the health topics, we appraised the quality of the CPGs using the Appraisal of Clinical Guidelines for Research & Evaluation II (AGREE II). Then, the authors extracted and …


Peripheral Neuropathy Evaluations Of Patients With Prolonged Long Covid., Anne Louise Oaklander, Alexander J Mills, Mary Kelley, Lisa S Toran, Bryan Smith, Marinos Dalakas, Avindra Nath May 2022

Peripheral Neuropathy Evaluations Of Patients With Prolonged Long Covid., Anne Louise Oaklander, Alexander J Mills, Mary Kelley, Lisa S Toran, Bryan Smith, Marinos Dalakas, Avindra Nath

Department of Neurology Faculty Papers

Background and objectives: Recovery from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection appears exponential, leaving a tail of patients reporting various long COVID symptoms including unexplained fatigue/exertional intolerance and dysautonomic and sensory concerns. Indirect evidence links long COVID to incident polyneuropathy affecting the small-fiber (sensory/autonomic) axons.

Methods: We analyzed cross-sectional and longitudinal data from patients with World Health Organization (WHO)-defined long COVID without prior neuropathy history or risks who were referred for peripheral neuropathy evaluations. We captured standardized symptoms, examinations, objective neurodiagnostic test results, and outcomes, tracking participants for 1.4 years on average.

Results: Among 17 patients (mean age …


Targeted Therapy In The Management Of Modern Craniopharyngiomas, Maikerly Reyes, Mohammad Taghvaei, Siyuan Yu, Anish Sathe, Sarah Collopy, Giyarpuram Prashant, James J. Evans, Michael Karsy Apr 2022

Targeted Therapy In The Management Of Modern Craniopharyngiomas, Maikerly Reyes, Mohammad Taghvaei, Siyuan Yu, Anish Sathe, Sarah Collopy, Giyarpuram Prashant, James J. Evans, Michael Karsy

Department of Neurosurgery Faculty Papers

Background: The proximity of craniopharyngiomas (CPs) to critical neurovascular structures can lead to a host of neurologic and endocrine complications that lead to difficulty with surgical management. In this review, we examine the molecular and genetic markers implicated in CP, their involvement in tumorigenic pathways, and their impact on CP prognosis and treatment.

Methods: We undertook a focused review of relevant articles, clinical trials, and molecular summaries regarding CP.

Results: Genetic and immunological markers show variable expression in different types of CP. BRAF is implicated in tumorigenesis in papillary CP (pCP), whereas CTNNB1 and EGFR are often overexpressed in adamantinomatous …


Barriers, Access And Management Of Paediatric Epilepsy With Telehealth., Kari Gali, Sucheta Joshi, Sarah Hueneke, Alexis Katzenbach, Linda Radecki, Trisha Calabrese, Linda Fletcher, Cristina Trandafir, Carey Wilson, Monisha Goyal, Courtney J. Wusthoff, Jean-Baptist Lepichon, Rhonda Corvalan, April Golson, Jessica Hardy, Michael Smith, Elizabeth Cook, Joshua L. Bonkowsky Apr 2022

Barriers, Access And Management Of Paediatric Epilepsy With Telehealth., Kari Gali, Sucheta Joshi, Sarah Hueneke, Alexis Katzenbach, Linda Radecki, Trisha Calabrese, Linda Fletcher, Cristina Trandafir, Carey Wilson, Monisha Goyal, Courtney J. Wusthoff, Jean-Baptist Lepichon, Rhonda Corvalan, April Golson, Jessica Hardy, Michael Smith, Elizabeth Cook, Joshua L. Bonkowsky

Manuscripts, Articles, Book Chapters and Other Papers

Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured …


The Role Of The Complement System In Chronic Inflammatory Demyelinating Polyneuropathy: Implications For Complement-Targeted Therapies., Luis A Querol, Hans-Peter Hartung, Richard A Lewis, Pieter A Van Doorn, Timothy R Hammond, Nazem Atassi, Miguel Alonso-Alonso, Marinos Dalakas Apr 2022

The Role Of The Complement System In Chronic Inflammatory Demyelinating Polyneuropathy: Implications For Complement-Targeted Therapies., Luis A Querol, Hans-Peter Hartung, Richard A Lewis, Pieter A Van Doorn, Timothy R Hammond, Nazem Atassi, Miguel Alonso-Alonso, Marinos Dalakas

Department of Neurology Faculty Papers

Chronic inflammatory demyelinating polyneuropathy (CIDP) is the most common, heterogeneous, immune-mediated neuropathy, characterized by predominant demyelination of motor and sensory nerves. CIDP follows a relapsing-remitting or a progressive course and causes substantial disability. The pathogenesis of CIDP involves a complex interplay of multiple aberrant immune responses, creating a pro-inflammatory environment, subsequently inflicting damage on the myelin sheath. Though the exact triggers are unclear, diverse immune mechanisms encompassing cellular and humoral pathways are implicated. The complement system appears to play a role in promoting macrophage-mediated demyelination. Complement deposition in sural nerve biopsies, as well as signs of increased complement activation in …


Immunomodulatory Effects And Clinical Benefits Of Intravenous Immunoglobulin In Myasthenia Gravis., Marinos C Dalakas, Andreas Meisel Apr 2022

Immunomodulatory Effects And Clinical Benefits Of Intravenous Immunoglobulin In Myasthenia Gravis., Marinos C Dalakas, Andreas Meisel

Department of Neurology Faculty Papers

Introduction Myasthenia gravis (MG) is an antibody-mediated disease that develops in the majority of patients mainly as a result of acetylcholine receptor (AChR) autoantibodies. This process is mediated by a series of immunoregulatory events. Therapeutic targets for MG include suppression of circulating antibodies or antibody production, suppression of complement activation, and immunomodulation of cytokines or T cells. Intravenous immunoglobulin (IVIg) has an effect on all of these mechanisms. Areas covered This narrative review explores the broad immunomodulatory effects of IVIg in MG and provides an update on IVIg treatment for MG. Expert opinion IVIg has a range of immunomodulatory effects …


Complement In Autoimmune Inflammatory Myopathies, The Role Of Myositis-Associated Antibodies, Covid-19 Associations, And Muscle Amyloid Deposits., Marinos Dalakas Apr 2022

Complement In Autoimmune Inflammatory Myopathies, The Role Of Myositis-Associated Antibodies, Covid-19 Associations, And Muscle Amyloid Deposits., Marinos Dalakas

Department of Neurology Faculty Papers

Introduction

The inflammatory myopathies (IM) have now evolved into distinct subsets requiring clarification about their immunopathogenesis to guide applications of targeted therapies

Areas Covered

Immunohistopathologic criteria of IM with a focus on complement, anti-complement therapeutics, and other biologic immunotherapies. The COVID19-triggered muscle autoimmunity along with the correct interpretation of muscle amyloid deposits is discussed.

Expert Opinion

The IM, unjustifiably referred as idiopathic, comprise Dermatomyositis (DM), Necrotizing Autoimmune Myositis (NAM), Anti-synthetase syndrome-overlap myositis (Anti-SS-OM), and Inclusion-Body-Myositis (IBM). In DM, complement activation with MAC-mediated endomysial microvascular destruction and perifascicular atrophy is the fundamental process, while innate immunity activation factors, INF1 and …


Gender Parity In Authorship Of Published Randomized Clinical Trials In Stroke Neurology From 2000 To 2021., Noor F Shaik, Ali A Saherwala, Diana L Tzeng Mar 2022

Gender Parity In Authorship Of Published Randomized Clinical Trials In Stroke Neurology From 2000 To 2021., Noor F Shaik, Ali A Saherwala, Diana L Tzeng

Department of Neurology Faculty Papers

Gender parity is a crucial goal in clinical medicine so that women have equal access and representation. Although approximately half (46%) of US neurology residents and fellows are female, proportions of female assistant, associate, and full professors are 49%, 41%, and 23%, respectively. This has far-reaching effects, from clinical publications to invited speakerships.Although a study noted increasing trends in female authorship in high-impact neurology journals the current literature lacks evidence on a more informative benchmark—first and last authorship in randomized clinical trials (RCTs), which is typically considered for career advancement. This study assessed annual proportions and trends of female first …


Degenerative Cervical Myelopathy, Ratko Yurac, José Manuel Matamala, Juan José Zamorano, James S Harrop, Benjamin M Davies, Aria Nouri, Michael G Fehlings Mar 2022

Degenerative Cervical Myelopathy, Ratko Yurac, José Manuel Matamala, Juan José Zamorano, James S Harrop, Benjamin M Davies, Aria Nouri, Michael G Fehlings

Department of Neurology Faculty Papers

Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord dysfunction in adults. Its prevalence is increasing as a result of population aging. The diagnosis of DCM is often delayed or overlooked, resulting in secondary neurologic morbidity. The natural course of DCM typically presents as a gradual neurological deterioration, with symptoms ranging from muscle weakness to complete paralysis, with variable degrees of sensory deficits and sphincter dysfunction. Magnetic resonance imaging (MRI) and electrophysiological studies allow the assessment of spinal cord function and its structural damage to determine treatment and clinical outcomes. All patients with signs and symptoms consistent …


The Relationship Between Malignant Tumors And Ischemic Stroke: Ii. Chronology Of Diagnoses And Treatment Of Strokes, Nóra Hajnóczky, Dániel Bereczki Jan 2022

The Relationship Between Malignant Tumors And Ischemic Stroke: Ii. Chronology Of Diagnoses And Treatment Of Strokes, Nóra Hajnóczky, Dániel Bereczki

Department of Medicine Faculty Papers

Összefoglaló. A malignus daganatok és a stroke együttesen gyakran fordulnak elő a stroke tradicionális rizikófaktoraival (magas vérnyomás, hyperlipidaemia, cukorbetegség, elhízás, dohányzás) rendelkező betegekben. Az elmúlt évtized kutatási eredményei alátámasztották, hogy a rosszindulatú daganatban szenvedő betegekben szignifikánsan nagyobb a stroke kockázata. A malignus daganatokhoz társuló stroke a leggyakrabban a malignus daganat diagnózisát követő fél-egy év során jelentkezik. A kapcsolat a másik irányban is létezik: stroke-betegek követése során malignus daganat szignifikánsan gyakrabban jelent meg, mint a stroke-mentes kontrollcsoportban. A daganatot a leginkább a stroke utáni első hat hónapban diagnosztizálják. A korábban nem ismert rosszindulatú daganat időnként az akut stroke kezelése során derül …


Neuromotor Changes In Participants With A Concussion History Can Be Detected With A Custom Smartphone App, Christopher K. Rhea, Masahiro Yamada, Nikita A. Kuznetsov, Jason T. Jakiela, Chanel T. Lojacono, Scott E. Ross, F. J. Haran, Jason M. Bailie, W. Geoffrey Wright Jan 2022

Neuromotor Changes In Participants With A Concussion History Can Be Detected With A Custom Smartphone App, Christopher K. Rhea, Masahiro Yamada, Nikita A. Kuznetsov, Jason T. Jakiela, Chanel T. Lojacono, Scott E. Ross, F. J. Haran, Jason M. Bailie, W. Geoffrey Wright

Rehabilitation Sciences Faculty Publications

Neuromotor dysfunction after a concussion is common, but balance tests used to assess neuromotor dysfunction are typically subjective. Current objective balance tests are either cost- or space-prohibitive, or utilize a static balance protocol, which may mask neuromotor dysfunction due to the simplicity of the task. To address this gap, our team developed an Android-based smartphone app (portable and cost-effective) that uses the sensors in the device (objective) to record movement profiles during a stepping-in-place task (dynamic movement). The purpose of this study was to examine the extent to which our custom smartphone app and protocol could discriminate neuromotor behavior between …