Neurology Commons^™

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 …

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 …

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 …

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 …

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 …

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 …

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.

Misperception About Epilepsy Among Common Public In Balochistan, Muhammad Essa, Gulandam ., Saleem Barech, Amanullah Kakar, Ihsan-Ul-Haq Zarkon, Suhail Mari, Muhammad Dawood, Tahir Shah

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: Epilepsy is a treatable chronic neurological illness that is frequently associated with supernatural activity. The objectives of this study were to determine common myths and misperception about epilepsy by analysing a comprehensive panel of variables in our local population. Methods: We conducted a face-to-face questionnaire interview survey in three different shopping malls. One thousand people were randomly enrolled in this cross-sectional study at Quetta, Baluchistan, during the period of 21 august 2021 to 30 august 2021.

Results: A total of 1000 people were interviewed; among them 220(22%) were male and 780(78%) were female. Individuals between the …

Screening For Depression And Anxiety Among Medical And Dental Students Who Are Forced Into Their Field Of Study, Sohail Ahmed Khan, Asvad Ahmad Khan, Asiyah Ahmed

Pakistan Journal of Neurological Sciences (PJNS)

ABSTRACT Background and Objective: The study hypothesized that the students who are forced to enter the medical field by their parents may have a higher incidence of depression and anxiety.

Methods: A total of 210 medical and dental students were asked to fill out a form indicating their desire to enter medical college versus their parents’ wishes on an analogue scale. They were also asked to fill out screening forms for depression and anxiety.

Results: The students who selected the medical field by their parent’s wishes were found to have 1.2 times more anxiety & 1.96 times more depression. Conclusions: …

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 …

A Case Of Ulcerative Colitis Presenting With Cerebral Venous Thrombosis, Zaid Waqar

Pakistan Journal of Neurological Sciences (PJNS)

Ulcerative Colitis is an autoimmune inflammatory bowel disease causing abdominal pain, bloody diarrhea and malnutrition and is associated with intestinal and extra intestinal complications. The clinical course has remissions and flare ups. Thromboembolism is a known risk associated with ulcerative colitis. Here we present a case of a young man who presented with a flare up of ulcerative colitis and developed neurological deficits that were diagnosed as due to cerebral venous thrombosis. Cerebral venous thrombosis is a rare complication of ulcerative colitis and can be missed without proper work up and consideration of diagnosis.

Apolipoprotein E Proteinopathy Is A Major Dementia-Associated Pathologic Biomarker In Individuals With Or Without The Apoe Epsilon 4 Allele, Jozsef Gal, Yuriko Katsumata, Haining Zhu, Sukanya Srinivasan, Jing Chen, Lance Allen Johnson, Wang-Xia Wang, Lesley Renee Golden, Donna M. Wilcock, Gregory A. Jicha, Matthew D. Cykowski, Peter Tobias Nelson

Spinal Cord and Brain Injury Research Center Faculty Publications

The amygdala is vulnerable to multiple or “mixed” mis-aggregated proteins associated with neurodegenerative conditions that can manifest clinically with amnestic dementia; the amygdala region is often affected even at earliest disease stages. With the original intent of identifying novel dementiaassociated proteins, the detergent-insoluble proteome was characterized from the amygdalae of 40 participants from the University of Kentucky Alzheimer’s Disease Center autopsy cohort. These individuals encompassed a spectrum of clinical conditions (cognitively normal to severe amnestic dementia). Polypeptides from the detergent-insoluble fraction were interrogated using liquid chromatography-electrospray ionization-tandem mass spectrometry. As anticipated, portions of peptides previously associated with neurologic diseases were …

Post Covid Anti-Nmdar Encephalitis In An Adolescent Girl, Javeria Raza Alvi, Muhammad Haider Sultan, Tipu Sultan

Pakistan Journal of Neurological Sciences (PJNS)

Anti-N-Methyl D-aspartate receptor (NMDAR) encephalitis is a neuro-inflammatory disorder caused by antibodies targeting neurons in the central nervous system. Certain viruses break immune tolerance of neuronal proteins and increase the permeability of blood brain barrier (BBB) to antibodies resulting in post infectious autoimmunity. We report a case about a 13 years old girl diagnosed as a case of anti-NMDAR encephalitis, who presented with psychiatric symptoms followed by abnormal movements and encephalopathy, with later development of autonomic instability with tachycardia and blood pressure at 98th centile. Her thyroid profile initially showed hyperthyroidism with negative anti-thyroid antibodies with subsequent normalization without anti-thyroid …

Stroke: Are Women Worse Off?, Maria Khan

Pakistan Journal of Neurological Sciences (PJNS)

Stroke is a leading cause of death and disability worldwide. Although the age standardized rates of stroke have fallen, the absolute number of strokes continue to rise, particularly in the low and middle income countries. It was long recognized that women have a lower age-standardized incidence of stroke. This understanding has been challenged by the Global burden of Disease Study 2019 which highlights that although the total number of Disability Adjusted Life Years (DALYs) from stroke were higher in males compared to females, the number of incident and prevalent strokes were higher in females. In addition, the study did not …

World Brain Day- Brain Health For All, Safa Younis

Pakistan Journal of Neurological Sciences (PJNS)

World Brain Day is celebrated annually on July 22nd, and this year’s theme was “Brain Health for All”. In honor of World Brain Day, Aga Khan University, in collaboration with the World Federation of Neurology, hosted an international webinar moderated by Dr. Shafaq Saleem. Dr. Mohammad Wasay commenced the session by discussing the importance of WHO’s adoption of the Intersectoral Global Action Plan on epilepsy and other neurological disorders. He discussed how significantly this 10-year action plan will improve neurological training, awareness, and advocacy. He explained how this webinar would unpack problems related to neurological care in different parts of …

Multiple Sclerosis Care In Pakistan; Analysis Of Data Presented At First Paktrims Conference, Zara Shah, Haris Majid, Sadia Nishat, Sumera Rafat Umer, Sundus Mehtab Shafee, Ahmed Wali, Naila Shahbaz

Pakistan Journal of Neurological Sciences (PJNS)

Novel data on Multiple Sclerosis (MS) in Pakistan from leading institutes in the country was presented at the first Pakistan Treatment in Multiple Sclerosis (PAKTRIMS) Conference, organized by the section of Neurology, department of Medicine, Aga Khan University, Karachi on Saturday, December 18, 2021. Pakistan has been considered to have a low prevalence of MS; however, recent research reveals that it is not as uncommon as previously believed to be in the country. The true prevalence and incidence of MS in the country is unknown because of dearth of research. Data of MS patients enrolled in various private and public …

A Sacral Filum Terminale Arteriovenous Fistula Fed By A Left T9 Artery Of Adamkiewicz, Kareem El Naamani, Rawad Abbas, Georgios S. Sioutas, Abdelaziz Amllay, Alfredo Munoz, Nabeel Herial, Stavropoula Tjoumakaris, Michael Reid Gooch, James Harrop, Robert H. Rosenwasswer, Pascal Jabbour

Department of Neurosurgery Faculty Papers

This is a case of 62-year-old patient presenting with tingling and numbness extending from the buttocks area towards the lower extremities and gait instability. Contrast Magnetic Resonance Imaging (MRI) and time-resolved imaging of contrast kinetics Magnetic Resonance Imaging (TRICKS MRI) raised suspicion for a possible dural arteriovenous fistula. Diagnostic Digital Subtraction Angiography (DSA) showed a filum terminale arterio venous fistula (AVF) fed by the left T9 from the anterior spinal artery of Adamkiewicz all the way down to the fistulous point at L5-S1. The patient underwent successful laminectomy of L5-S1 and clipping of the filum terminale arteriovenous fistula.

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD+GI), 10 children with ASD but no GI symptoms (ASD−GI), and 20 from typically developing (TD) children (TD) in this pilot study. Fecal mycobiome taxa were analyzed by ITS sequencing. GI symptoms (GI Severity Index (GSI)), behavioral symptoms (Social Responsiveness Scale −2 (SRS-2)), inflammation and fungal immunity (fecal calprotectin and serum dectin-1 (ELISA)) were evaluated. …

Is Shunt Location A Risk Factor For The Development Of De Novo Post-Shunt Seizures?, Hanieh Bazrafshan, Mohamad Sadegh Masoudi, Mehdi Bazrafshan, Ali Akbar Asadi-Pooya

Department of Neurology Faculty Papers

Background: While ventriculo-extracranial shunting procedures have been the standard treatment option for hydrocephalus for a long time, their long-term morbidity, including the development of post-shunt de Novo seizures, should be taken into account. This study aimed to investigate the rate and risk factors of the occurrence of de Novo post-shunt seizures in patients with hydrocephalus.

Methods: In this retrospective longitudinal study, all patients with hydrocephalus who had ventriculo-peritoneal shunt insertion from 2014 to 2017 at Namazi Hospital, (Shiraz, Iran) were studied. Phone calls were made to all patients to obtain their postoperative seizure outcome and other data (e.g., sex, age …

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

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 …

A Multidisciplinary Approach And Consensus Statement To Establish Standards Of Care For Angelman Syndrome, Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G C B Bindels-De Heus, M J Valstar, Marie-Claire Y De Wit, C Navis, Maartje Ten Hooven-Radstaake, Bianca M Van Iperen-Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz-Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret Deramus, Amy Thomas, Emily Kertcher, Lauren Devalk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P Gorham, Brenda L Bohnsack, Reid C Chambers, Sarah Harris, Henry G Chambers, Katherine Okoniewski, Elizabeth R Jalazo, Allyson Berent, Carlos A Bacino, Charles Williams, Anne Anderson

Duncan NRI Faculty and Staff Publications

Background: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a …

Clinical Exome Sequencing Data Reveal High Diagnostic Yields For Congenital Diaphragmatic Hernia Plus (Cdh+) And New Phenotypic Expansions Involving Cdh, Tiana M Scott, Ian M Campbell, Andres Hernandez-Garcia, Seema R Lalani, Pengfei Liu, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott

Duncan NRI Faculty and Staff Publications

Background: Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that often co-occurs with non-hernia-related anomalies (CDH+). While copy number variant (CNV) analysis is often employed as a diagnostic test for CDH+, clinical exome sequencing (ES) has not been universally adopted.

Methods: We analysed a clinical database of ~12 000 test results to determine the diagnostic yields of ES in CDH+ and to identify new phenotypic expansions.

Results: Among the 76 cases with an indication of CDH+, a molecular diagnosis was made in 28 cases for a diagnostic yield of 37% (28/76). A provisional diagnosis was made in seven other …

Endovascular Thrombectomy Versus Medical Management In Isolated M2 Occlusions: Pooled Patient-Level Analysis From The Extend-Ia Trials, Inspire And Select Studies, Amrou Sarraj, Mark Parsons, Andrew Bivard, Ameer E. Hassan, Michael G. Abraham, Teddy Wu, Timothy Kleinig, Longting Lin, Chushuang (Amy) Chen, Christopher Levi

School of Medicine Publications

Objective: To evaluate functional and safety outcomes of Endovascular thrombectomy(EVT) vs Medical Management(MM) in patients with M2 occlusion and examine their association with perfusion imaging mismatch and stroke severity.

Methods: In a pooled, patient-level analysis of 3 randomized controlled trials(EXTEND-IA, EXTEND-IA-TNK part 1&2) and 2 prospective non-randomized studies(INSPIRE&SELECT), we evaluated EVT association with 90-day functional independence(mRS 0-2) in isolated M2 occlusions as compared to medical management overall and in subgroups by mismatch profile status and stroke severity.

Results: We included 517 patients(EVT=195, MM=322), baseline median(IQR) NIHSS was 13(8-19) in EVT vs 10(6-15) in MM, p

Interpretation: In patients with M2 …