Neurology Commons^™

Alzheimer's And Patient Caregiver Burnout: A Review Of The Literature, Madeline Hekeler

James Madison Undergraduate Research Journal (JMURJ)

The term “silent epidemic” is fitting for Alzheimer’s disease (AD), as its negative impact is widely felt but rarely discussed. Burnout among AD caregivers has become an epidemic of its own as caregivers experience an increase in health risks, stress, and financial burden. This literature review focuses on caregiver burnout and how imperative it is that caregivers are better supported in their role. Researchers have developed instruments to assess and intervene in caregiver burnout that have shown effectiveness among caregivers and their families.Nevertheless, further longitudinal research is warranted regarding more effective interventions, including stress management and social support mechanisms.

Intensive Versus Standard Treatment Of Hyperglycemia In Acute Ischemic Stroke Patient: A Randomized Clinical Trial Subgroups Analysis, Michael T. Torbey, Qi Pauls, Nina Gentile, Mercedes Falciglia, William Meurer, Creed L. Pettigrew, Valerie L. Durkalski-Mauldin, Thomas Bleck, Askiel Bruno

Neurology Faculty Publications

Background: Benefit from blood glucose (BG) control during acute ischemic stroke may depend on glycemic parameters. We evaluated for associations between the SHINE (Stroke Hyperglycemia Insulin Network Effort) randomized treatment group and the SHINE predefined 90-day functional outcome, within-patient subgroups defined by various glycemic parameters.

Methods: The SHINE Trial randomized 1151 patients within 12 hours with acute ischemic stroke and hyperglycemia to standard (target BG 80-179 mg/dL) or intensive (target BG 80-130 mg/dL) BG control for 72 hours. We predefined 6 glycemic parameters: acute BG level, absence versus presence of diagnosed and undiagnosed diabetes, hemoglobin A1c, glycemic gap …

Practical Needs And Considerations For Refugees And Other Forcibly Displaced Persons With Neurological Disorders: Recommendations Using A Modified Delphi Approach, Shawheen Rezaei, Foksouna Sakadi, Fu-Liong Hiew, Ildefonso Rodriguez-Leyva, Jera Kruja, Mohammad Wasay, Osheik Abuasha Seidi, Saad Abdel-Aziz, Shahriar Nafissi, Farrah Mateen

Section of Neurology

Background: There are >70 million forcibly displaced people worldwide, including refugees, internally displaced persons, and asylum seekers. While the health needs of forcibly displaced people have been characterized in the literature, more still needs to be done globally to translate this knowledge into effective policies and actions, particularly in neurology.
Methods: In 2020, a global network of published experts on neurological disease and refugees was convened. Nine physician experts from nine countries (2 low, 1 lower-middle income, 5 upper-middle, 1 high income) with experience treating displaced people originating from 18 countries participated in three survey and two discussion rounds in …

Use Of Functional Mri In Deep Brain Stimulation In Parkinson's Diseases: A Systematic Review., Jingya Miao, Mohamed Tantawi, Victoria Koa, Ashley B Zhang, Veronica Zhang, Ashwini Sharan, Chengyuan Wu, Caio M Matias

Department of Neurosurgery Faculty Papers

Deep brain stimulation (DBS) has been used to modulate aberrant circuits associated with Parkinson's disease (PD) for decades and has shown robust therapeutic benefits. However, the mechanism of action of DBS remains incompletely understood. With technological advances, there is an emerging use of functional magnetic resonance imaging (fMRI) after DBS implantation to explore the effects of stimulation on brain networks in PD. This systematic review was designed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines to summarize peer-reviewed articles published within the past 10 years in which fMRI was employed on patients with PD-DBS. Search in …

The Spectrum Of Indomethacin-Responsive Headaches In Children And Adolescents, Kenneth A. Myers, Rebecca Barmherzig, Nichelle R. Raj, Saoussen Berrahmoune, Pablo Ingelmo, Christine Saint-Martin, Afsheen Q. Khan, Megan Kouri, Cynthia Morris, Andrew D. Hershey, Joanne Kacperski, Marielle A. Kabbouche, Nada Mohamed, Rashmi R. Rao, Ana Marissa Lagman-Bartolome, Amy A. Gelfand, Christina L. Szperka, Serena L. Orr

School of Medicine Faculty Publications

Background: Headaches with marked, specific response to indomethacin occur in children, but the phenotypic spectrum of this phenomenon has not been well-studied. Methods: We reviewed pediatric patients with headache showing ≥80% improvement with indomethacin, from seven academic medical centers. Results: We included 32 pediatric patients (16 females). Mean headache onset age was 10.9 y (range 2–16 y). Headache syndromes included hemicrania continua (n = 13), paroxysmal hemicrania (n = 10), primary stabbing headache (n = 2), short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (n = 1), primary exercise headache (n = 1) and primary cough headache (n …

Recommendations For Daytime, Evening, And Nighttime Indoor Light Exposure To Best Support Physiology, Sleep, And Wakefulness In Healthy Adults, Timothy M Brown, George Brainard, Christian Cajochen, Charles A Czeisler, John P Hanifin, Steven W Lockley, Robert J Lucas, Mirjam Münch, John B O'Hagan, Stuart N Peirson, Luke L A Price, Till Roenneberg, Luc J M Schlangen, Debra J Skene, Manuel Spitschan, Céline Vetter, Phyllis C Zee, Kenneth P Wright

Department of Neurology Faculty Papers

Ocular light exposure has important influences on human health and well-being through modulation of circadian rhythms and sleep, as well as neuroendocrine and cognitive functions. Prevailing patterns of light exposure do not optimally engage these actions for many individuals, but advances in our understanding of the underpinning mechanisms and emerging lighting technologies now present opportunities to adjust lighting to promote optimal physical and mental health and performance. A newly developed, international standard provides a SI-compliant way of quantifying the influence of light on the intrinsically photosensitive, melanopsin-expressing, retinal neurons that mediate these effects. The present report provides recommendations for lighting, …

Multiple Sclerosis: Relationship Between Locus Of Control And Quality Of Life In Persons With Low Versus High Disability, Judith Bijoux Leist, Thomas P. Leist

Department of Neurology Faculty Papers

Background: Health Locus of Control (HLOC) is the degree to which individuals believe that their health outcomes are controlled by 'external' factors - environmental forces, chance, fate, other people, or some higher power - or by 'internal' factors - their own behavior or action. Most of the literature on HLOC associates an Internal Health Locus of Control (IHLOC) to pro-health behaviors and better health outcomes. However, a few studies also suggest that in chronic illnesses, an External Health Locus of Control (EHLOC) could be beneficial with respect to pro-health behaviors and perceptions of Quality of Life (QoL), challenging assumptions about …

Prmt5 Interacting Partners And Substrates In Oligodendrocyte Lineage Cells, David K. Dansu, Jialiang Liang, Ipek Selcen, Haiyan Zheng, Dirk F. Moore, Patricia Casaccia

Advanced Science Research Center

The protein arginine methyl transferase PRMT5 is an enzyme expressed in oligodendrocyte lineage cells and responsible for the symmetric methylation of arginine residues on histone tails. Previous work from our laboratory identified PRMT5 as critical for myelination, due to its transcriptional regulation of genes involved in survival and early stages of differentiation. However, besides its nuclear localization, PRMT5 is found at high levels in the cytoplasm of several cell types, including oligodendrocyte progenitor cells (OPCs) and yet, its interacting partners in this lineage, remain elusive. By using mass spectrometry on protein eluates from extracts generated from primary oligodendrocyte lineage cells …

Cleavage Stimulating Factor 64 Depletion Mitigates Cardiac Fibrosis Through Alternative Polyadenylation, Rahul Neupane, Keith Youker, Hari Krishna Yalamanchili, Katarzyna A Cieslik, Harry Karmouty-Quintana, Ashrith Guha, Rajarajan A Thandavarayan

Duncan NRI Faculty and Staff Publications

Alternative polyadenylation (APA) regulates gene expression by cleavage and addition of poly(A) sequence at different polyadenylation sites (PAS) in 3'UTR, thus, generating transcript isoforms with different lengths. Cleavage stimulating factor 64 (CstF64) is an APA regulator which plays a role in PAS selection and determines the length of 3'UTR. CstF64 favors the use of proximal PAS, resulting in 3'UTR shortening, which enhances the protein expression by increasing the stability of the target genes. The aim of this study is to investigate the role of CstF64 in cardiac fibrosis, a key event leading to heart failure (HF). We determined the expression …

Drosophila Functional Screening Of De Novo Variants In Autism Uncovers Damaging Variants And Facilitates Discovery Of Rare Neurodevelopmental Diseases, Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana, Hillary K Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M Longley, Hsiao-Tuan Chao, Hyung-Lok Chung, Nele A Haelterman, Oguz Kanca, Sathiya N Manivannan, Linda Z Rossetti, Ryan J German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N Murali, Tahsin Stefan Barakat, Marieke F Van Dooren, Martina Wilke, Marjon Van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A Brownstein, Jill A Madden, Pankaj B Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A Rosenfeld, Ronit Marom, Michael F Wangler, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed …

Characterization Of Basal Ganglia Volume Changes In The Context Of Hiv And Polysubstance Use, Andrew J Monick, Michelle R Joyce, Natasha Chugh, Jason A Creighton, Owen P Morgan, Eric C Strain, Cherie L Marvel

Department of Medicine Faculty Papers

HIV and psychoactive substances can impact the integrity of the basal ganglia (BG), a neural substrate of cognition, motor control, and reward-seeking behaviors. This study assessed BG gray matter (GM) volume as a function of polysubstance (stimulant and opioid) use and HIV status. We hypothesized that comorbid polysubstance use and HIV seropositivity would alter BG GM volume differently than would polysubstance use or HIV status alone. We collected structural MRI scans, substance use history, and HIV diagnoses. Participants who had HIV (HIV +), a history of polysubstance dependence (POLY +), both, or neither completed assessments for cognition, motor function, and …

Chronic Relapsing Neutrophilic Meningitis As The Sole Manifestation Of Nocardiosis In A Patient With Mixed Connective Tissue Disease., M Anthony Albornoz, Erin K Threlfall, Michael Baldassari, Lawrence J Livornese

Department of Neurosurgery Faculty Papers

We describe a rare case of a patient with mixed connective tissue disease maintained on chronic oral corticosteroids, who was hospitalized on five occasions over five consecutive months due to persistent relapsing neutrophilic meningitis caused by Nocardia asteroides. Immunosuppression due to the chronic use of corticosteroids was identified as the underlying mechanism of susceptibility. Our report highlights the challenges associated with systemic Nocardiosis, particularly in the immunocompromised host.

The Society Of Vascular And Interventional Neurology (Svin) Mechanical Thrombectomy Registry: Methods And Primary Results, Diogo C. Haussen, Alhamza R. Al-Bayati, Mahmoud H. Mohammaden, Sunil A. Sheth, Sergio Salazar-Marioni, Italo Linfante, Guilherme Dabus, Amy K. Starosciak, Ameer E. Hassan, Wondwossen G. Tekle

School of Medicine Publications

Background

A better understanding of real‐world practice patterns in the endovascular treatment for large vessel occlusion acute ischemic stroke is needed. Here, we report the methods and initial results of the Society of Vascular and Interventional Neurology (SVIN) Registry.

Methods

The SVIN Registry is an ongoing prospective, multicenter, observational registry capturing patients with large vessel occlusion acute ischemic stroke undergoing endovascular treatment since November 2018. Participating sites also contributed pre‐SVIN Registry data collected per institutional prospective registries, and these data were combined with the SVIN Registry in the SVIN Registry+ cohort.

Results

There were 2088 patients treated across 11 US …

Hyperammonemia Of Unknown Cause In A Young Postpartum Woman: A Case Report, Sadaf Hanif, Sher Muhammad Sethi

Section of Internal Medicine

Background: Hyperammonemia is a medical condition described as increased or elevated serum ammonia levels. High serum levels of ammonia can cause neurotoxicity. Sudden onset severe hyperammonemia may cause severe encephalopathy with brain damage. It can result in cerebral edema, emesis, seizures, hypotonia, and death. We report a young postpartum woman who had a sudden rise in serum ammonia levels after vaginal delivery.
Case presentation: A 24-year-old, married, postpartum Pakistani woman was admitted to the intensive care unit through the emergency department, with complaints of fever, severe abdominal pain with distension, and altered levels of consciousness. The patient had a medical …

Fly Cell Atlas: A Single-Nucleus Transcriptomic Atlas Of The Adult Fruit Fly, Hongjie Li, Jasper Janssens, Maxime De Waegeneer, Sai Saroja Kolluru, Kristofer Davie, Vincent Gardeux, Wouter Saelens, Fabrice P A David, Maria Brbić, Katina Spanier, Jure Leskovec, Colleen N Mclaughlin, Qijing Xie, Robert C Jones, Katja Brueckner, Jiwon Shim, Sudhir Gopal Tattikota, Frank Schnorrer, Katja Rust, Todd G Nystul, Zita Carvalho-Santos, Carlos Ribeiro, Soumitra Pal, Sharvani Mahadevaraju, Teresa M Przytycka, Aaron M Allen, Stephen F Goodwin, Cameron W Berry, Margaret T Fuller, Helen White-Cooper, Erika L Matunis, Stephen Dinardo, Anthony Galenza, Lucy Erin O'Brien, Julian A T Dow, Fca Consortium, Heinrich Jasper, Brian Oliver, Norbert Perrimon, Bart Deplancke, Stephen R Quake, Liqun Luo, Stein Aerts, Devika Agarwal, Yasir Ahmed-Braimah, Michelle Arbeitman, Majd M Ariss, Jordan Augsburger, Kumar Ayush, Catherine C Baker, Torsten Banisch, Katja Birker, Rolf Bodmer, Benjamin Bolival, Susanna E Brantley, Julie A Brill, Nora C Brown, Norene A Buehner, Xiaoyu Tracy Cai, Rita Cardoso-Figueiredo, Fernando Casares, Amy Chang, Thomas R Clandinin, Sheela Crasta, Claude Desplan, Angela M Detweiler, Darshan B Dhakan, Erika Donà, Stefanie Engert, Swann Floc'hlay, Nancy George, Amanda J González-Segarra, Andrew K Groves, Samantha Gumbin, Yanmeng Guo, Devon E Harris, Yael Heifetz, Stephen L Holtz, Felix Horns, Bruno Hudry, Ruei-Jiun Hung, Yuh Nung Jan, Jacob S Jaszczak, Gregory S X E Jefferis, Jim Karkanias, Timothy L Karr, Nadja Sandra Katheder, James Kezos, Anna A Kim, Seung K Kim, Lutz Kockel, Nikolaos Konstantinides, Thomas B Kornberg, Henry M Krause, Andrew Thomas Labott, Meghan Laturney, Ruth Lehmann, Sarah Leinwand, Jiefu Li, Joshua Shing Shun Li, Kai Li, Ke Li, Liying Li, Tun Li, Maria Litovchenko, Han-Hsuan Liu, Yifang Liu, Tzu-Chiao Lu, Jonathan Manning, Anjeli Mase, Mikaela Matera-Vatnick, Neuza Reis Matias, Caitlin E Mcdonough-Goldstein, Aaron Mcgeever, Alex D Mclachlan, Paola Moreno-Roman, Norma Neff, Megan Neville, Sang Ngo, Tanja Nielsen, Caitlin E O'Brien, David Osumi-Sutherland, Mehmet Neset Özel, Irene Papatheodorou, Maja Petkovic, Clare Pilgrim, Angela Oliveira Pisco, Carolina Reisenman, Erin Nicole Sanders, Gilberto Dos Santos, Kristin Scott, Aparna Sherlekar, Philip Shiu, David Sims, Rene V Sit, Maija Slaidina, Harold E Smith, Gabriella Sterne, Yu-Han Su, Daniel Sutton, Marco Tamayo, Michelle Tan, Ibrahim Tastekin, Christoph Treiber, David Vacek, Georg Vogler, Scott Waddell, Wanpeng Wang, Rachel I Wilson, Mariana F Wolfner, Yiu-Cheung E Wong, Anthony Xie, Jun Xu, Shinya Yamamoto, Jia Yan, Zepeng Yao, Kazuki Yoda, Ruijun Zhu, Robert P Zinzen

Duncan NRI Faculty and Staff Publications

For more than 100 years, the fruit fly Drosophila melanogaster has been one of the most studied model organisms. Here, we present a single-cell atlas of the adult fly, Tabula Drosophilae, that includes 580,000 nuclei from 15 individually dissected sexed tissues as well as the entire head and body, annotated to >250 distinct cell types. We provide an in-depth analysis of cell type-related gene signatures and transcription factor markers, as well as sexual dimorphism, across the whole animal. Analysis of common cell types between tissues, such as blood and muscle cells, reveals rare cell types and tissue-specific subtypes. This …

A Review Of Multiomics Platforms In Pituitary Adenoma Pathogenesis, Nikolaos Mouchtouris, Rupert D Smit, Keenan Piper, Giyarpuram Prashant, James J. Evans, Michael Karsy

Department of Neurosurgery Faculty Papers

Pituitary adenomas (PA), or pituitary neuroendocrine tumors (PitNETs), represent 15% of all central nervous system tumors. Classic description of PitNETs solely by hormonal classification has given way to key transcription factors that play a role in the pathology of PitNETs including steroidogenic factor-1 (SF-1), t-box pituitary transcription factor (TPIT), and pituitary transcription factor 1 (PIT-1). Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), and Carney complex. Recent advances in next generation sequencing have improved insight into the pathogenesis of PitNETs. A review of key studies …

Covid-19 In Cns And Pns: Basic And Clinical Focus On The Mechanisms Of Infection And New Tools For The Therapeutic Approach, Jorge Matias-Guiu, Jordi A. Matias-Guiu, Carmen Garrido, Genaro Pimienta, Patricio F. Reyes, Abdul Mannan Baig, Ulises Gomez-Pinedo

Department of Biological & Biomedical Sciences

No abstract provided.

Daam2 Regulates Myelin Structure And The Oligodendrocyte Actin Cytoskeleton Through Rac1 And Gelsolin, Carlo D Cristobal, Chih-Yen Wang, Zhongyuan Zuo, Joshua A Smith, Aaron Lindeke-Myers, Hugo J Bellen, Hyun Kyoung Lee

Duncan NRI Faculty and Staff Publications

Myelin is essential to neuronal health and CNS function, and oligodendrocytes (OLs) undergo a complex process of cytoskeletal remodeling to form compact myelin sheaths. We previously discovered that a formin protein, Dishevelled associated activator of morphogenesis 2 (Daam2), suppresses OL differentiation through Wnt signaling; however, its role in cytoskeletal control remains unknown. To investigate this, we used OL-specific Daam2 conditional knockout (Daam2 cKO) mice of either sex and found myelin decompaction during an active period of myelination in postnatal development and motor coordination deficits in adulthood. Using primary OL cultures, we found Daam2-depleted OLs showed morphologic dysregulation during differentiation, suggesting …

Role Of Surgery In Multifocal Glioblastoma, Syeda Kubra Kishwar Jafri, Syed Sarmad Bukhari, Muhammad Shahzad Shamim

Section of Neurosurgery

The management of multifocal glioblastomas is a point of constant discussion amongst neuro-oncologists. Best outcomes in glioblastoma management come from gross total resection (GTR) followed by concomitant radiation and chemotherapy (CCRT). Multifocal disease is resistant to GTR. Conventional management of these lesion is usually biopsy only followed by CCRT. Recent evidence has shown that there may be some benefit to attempting GTR of the largest lesion whenever safe to do so.

Prolonged Psychosis Before Onset Of Neurological Symptoms: An Atypical Clinical Manifestation Of Huntington’S Disease, Marium Mansoor, Nida Rahman Khan, Alviya Shaique

Pakistan Journal of Neurological Sciences (PJNS)

Huntington's disease (HD) is a rare, autosomal dominant, progressive neurodegenerative disorder. HD manifests with a triad of progressive motor, cognitive, and psychiatric symptoms. Our patient was a 39-years-old married female with over a nine-year history of psychotic symptoms. The patient was diagnosed and treated for schizophrenia. Over the last 2-3 years, the patient had a progressive decline in her Activities of Daily Living, instrumental activities of daily living, and psychotic symptoms. She developed slurred speech, gait disturbances, frequent falls, involuntary movements of the trunk and distal extremities, bowel and bladder incontinence, and severe weight loss. Her genetic test for Huntington’s …