Neurology Commons^™

Reccurent Reversible Encephalopathy With Ataxia And D-Lactic Acidosis In Short Bowel Syndrome, Abdul Rana, Salman Assad, Sucharita Katikala, Shuja Asad Malik, Mahmoud Abouzid, Mehar Zahid, Swaroopa Pulivarthi

Marshall Journal of Medicine

The short gut syndrome can lead to multiple metabolic disorders along with chronic malnutrition. Such patients can develop changes in mental status due to metabolic alterations. We present a case of eleven years old male who presented to the hospital with an altered mental state. There were repeated admissions to the hospital with a similar complain with non-conclusive cerebrospinal fluid analysis and normal neuroimaging findings. The patient suffered from chronic malnutrition and multiple hospitalizations with altered mental status, encephalopathy. However, he responded well to bicarbonate therapy and prophylactic metronidazole treatment.

A Fatal Case Of Primary Amoebic Meningoencephalitis (Pam) Complicated With Diabetes Insipidus (Di): A Case Report And Review Of The Literature, Zain Mushtaq, Saad Bin Zafar Mahmood, Adil Aziz

Section of Internal Medicine

Naegleria fowleri is a highly infective free-living amoeba usually isolated from soil and fresh water and is primarily found to infect the central nervous system (CNS) resulting in primary amoebic meningoencephalitis (PAM). PAM as a cause of meningitis is often overlooked for other, more common causes of meningitis. Despite all the advances in antimicrobial therapy and supportive care systems, the mortality rate of this rare infection remains above 95% with the bulk of the cases being found in developed countries. We are presenting a case of a 44-year-old male with fever, worsening headache, and generalized weakness. Lumbar puncture showed a …

Regional And Experiential Differences In Surgeon Preference For The Treatment Of Cervical Facet Injuries: A Case Study Survey With The Ao Spine Cervical Classification Validation Group, Jose A Canseco, Gregory D Schroeder, Parthik D Patel, Giovanni Grasso, Michael Chang, Frank Kandziora, Emiliano N Vialle, F Cumhur Oner, Klaus J Schnake, Marcel F Dvorak, Jens R Chapman, Lorin M Benneker, Shanmuganathan Rajasekaran, Christopher K Kepler, Alexander R Vaccaro

Department of Neurosurgery Faculty Papers

PURPOSE: The management of cervical facet dislocation injuries remains controversial. The main purpose of this investigation was to identify whether a surgeon's geographic location or years in practice influences their preferred management of traumatic cervical facet dislocation injuries.

METHODS: A survey was sent to 272 AO Spine members across all geographic regions and with a variety of practice experience. The survey included clinical case scenarios of cervical facet dislocation injuries and asked responders to select preferences among various diagnostic and management options.

RESULTS: A total of 189 complete responses were received. Over 50% of responding surgeons in each region elected …

Meta-Analysis Of The Alzheimer's Disease Human Brain Transcriptome And Functional Dissection In Mouse Models., Ying-Wooi Wan, Rami Al-Ouran, Carl G Mangleburg, Thanneer M Perumal, Tom V Lee, Katherine Allison, Vivek Swarup, Cory C Funk, Chris Gaiteri, Mariet Allen, Minghui Wang, Sarah M Neuner, Catherine C Kaczorowski, Vivek M Philip, Gareth R Howell, Heidi Martini-Stoica, Hui Zheng, Hongkang Mei, Xiaoyan Zhong, Jungwoo Wren Kim, Valina L Dawson, Ted M Dawson, Ping-Chieh Pao, Li-Huei Tsai, Jean-Vianney Haure-Mirande, Michelle E Ehrlich, Paramita Chakrabarty, Yona Levites, Xue Wang, Eric B Dammer, Gyan Srivastava, Sumit Mukherjee, Solveig K Sieberts, Larsson Omberg, Kristen D Dang, James A Eddy, Phil Snyder, Yooree Chae, Sandeep Amberkar, Wenbin Wei, Winston Hide, Christoph Preuss, Ayla Ergun, Phillip J Ebert, David C Airey, Sara Mostafavi, Lei Yu, Hans-Ulrich Klein, Accelerating Medicines Partnership, Alzheimer’S Disease Consortium, Gregory W Carter, David A Collier, Todd E Golde, Allan I Levey, David A Bennett, Karol Estrada, T Matthew Townsend, Bin Zhang, Eric Schadt, Philip L De Jager, Nathan D Price, Nilüfer Ertekin-Taner, Zhandong Liu, Joshua M Shulman, Lara M Mangravite, Benjamin A Logsdon

Articles, Abstracts, and Reports

We present a consensus atlas of the human brain transcriptome in Alzheimer's disease (AD), based on meta-analysis of differential gene expression in 2,114 postmortem samples. We discover 30 brain coexpression modules from seven regions as the major source of AD transcriptional perturbations. We next examine overlap with 251 brain differentially expressed gene sets from mouse models of AD and other neurodegenerative disorders. Human-mouse overlaps highlight responses to amyloid versus tau pathology and reveal age- and sex-dependent expression signatures for disease progression. Human coexpression modules enriched for neuronal and/or microglial genes broadly overlap with mouse models of AD, Huntington's disease, amyotrophic …

Drug-Resistant Epilepsy In Children With Juvenile Huntington's Disease: A Challenging Case And Brief Review, Abdulhafeez Khair, Jessica Kabrt, Stephen Falchek

Department of Neurology Faculty Papers

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder with a progressive decline in cognitive, motor, and psychological function. Chorea tends to be the most common associated movement disorder, although other variants of several abnormal movements are also seen. Adult-onset HD is the most common subtype. Juvenile Huntington's disease (JHD) accounts for 5%-10% of all HD cases and presents as a rapidly progressive disorder with a multitude of characteristics. We report on a 9-year-old male with JHD who presented with refractory epilepsy. His EEG findings, seizure type, and antiepileptic drug usage are discussed with a brief review of the currently …

Veterans Helping Veterans Mid-Day Talk: Gulf War Illness Research, Bill Watts, Elizabeth G. Balbin

INIM Research Seminar Series

• Meet the Gulf War Illness Research Team.
• Learn about the ease of participating in research.
• Hear from veterans who have participated in research.
• Learn about different studies currently available.

Inflammatory Pathway Analytes Predicting Rapid Cognitive Decline In Mci Stage Of Alzheimer’S Disease, Jagan A. Pillai, Gurkan Bebek, Lynn M. Bekris, Aaron Bonner-Jackson, Stephen M. Rao, Mark R. Chance, James B. Leverenz

Faculty Scholarship

Objective: To determine the inflammatory analytes that predict clinical progression and evaluate their performance against biomarkers of neurodegeneration. Methods: A longitudinal study of MCI-AD patients in a Discovery cohort over 15 months, with replication in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) MCI cohort over 36 months. Fifty-three inflammatory analytes were measured in the CSF and plasma with a RBM multiplex analyte platform. Inflammatory analytes that predict clinical progression on Clinical Dementia Rating Scale-Sum of Boxes (CDR-SB) and Mini Mental State Exam scores were assessed in multivariate regression models. To provide context, key analyte results in ADNI were compared against biomarkers …

In Vivo Evidence Of Exosome-Mediated Aβ Neurotoxicity, Ahmed Elsherbini, Haiyan Qin, Zhihui Zhu, Priyanka Tripathi, Simone M. Crivelli, Erhard Bieberich

Physiology Faculty Publications

No abstract provided.

A Comparative Study Of Sleep And Diurnal Patterns In House Mouse (Mus Musculus) And Spiny Mouse (Acomys Cahirinus), Chanung Wang, Lauren E. Guerriero, Dillon M. Huffman, Asma'a A. Ajwad, Trae C. Brooks, Sridhar Sunderam, Ashley W. Seifert, Bruce F. O'Hara

Biomedical Engineering Faculty Publications

Most published sleep studies use three species: human, house mouse, or Norway rat. The degree to which data from these species captures variability in mammalian sleep remains unclear. To gain insight into mammalian sleep diversity, we examined sleep architecture in the spiny basal murid rodent Acomys cahirinus. First, we used a piezoelectric system validated for Mus musculus to monitor sleep in both species. We also included wild M. musculus to control for alterations generated by laboratory-reared conditions for M. musculus. Using this comparative framework, we found that A. cahirinus, lab M. musculus, and wild M. musculus were …

Polyspike Ictal-Onset Absence Seizures In A Pediatric Patient With Down Syndrome., Sherouk A. Abdelmoity, Mohammed Ilyas

Manuscripts, Articles, Book Chapters and Other Papers

Polyspike ictal-onset absence seizure has been reported in adult patients with genetic generalized epilepsy but is a novel pattern in the pediatric population. Absence seizures are usually associated with generalized spike-and-wave on EEG. However, we present the case of a 10-year-old girl with Down syndrome and developmental delays who presented with atypical absence seizure associated with an unusual electroencephalographic (EEG) pattern of polyspike ictal-onset. Recognition of this ictal pattern in the pediatric population, as previously reported in adult populations, is important as it can have therapeutic and prognostic implications.

Red Ear Syndrome: A Case Presentation And Discussion, Jared Brackenrich, Samantha Sternad, Chad Johnston

HCA Healthcare Journal of Medicine

Introduction: Red Ear Syndrome (RES) is a condition often considered to be a localized form of erythromelalgia. It can be related to structural cervical defects or idiopathic. RES is generally very difficult to treat.

Discussion: A 57-year-old male presented to the dermatology clinic complaining of a 4-month history of intermittent redness and severe burning of bilateral ears. On examination, the patient exhibited edematous erythema and tenderness to palpation affecting the right and left ear and right malar cheek. A skin biopsy revealed mild superficial perivascular lymphocytic infiltrate with hypertrophy of endothelial cells. The patient was found to have a normal …

Significance Of Micro-Rna Expression In Patients With Meningioma, Rida Mitha, Muhammad Shahzad Shamim

Section of Neurosurgery

Recent brain tumour research has shown abnormalities in gene expression as key features for almost all common brain tumours investigated. However, there is increasing evidence that epigenetic abnormalities are also crucial for tumorigenesis. Epigenetic abnormalities are heritable alterations affecting gene expression without changing the primary DNA sequence. Epigenetic abnormalities in meningiomas include abnormal microRNA expression, altered DNA methylation and histone and chromatin modifications. In this review we identify the role of altered expression of microRNA in the development and recurrence of meningioma. Based on the review of current literature, extensive knowledge of micro-RNA expression cannot only determine tumour recurrence and …

Post-Vaccination Pharyngeal-Cervical-Brachial Variant Of Guillain-Barré Syndrome, Funmilola T. Taiwo, Daniel E. Ezuduemoih, Philip Adebayo

Internal Medicine, East Africa

The pharyngeal-cervical-brachial (PCB) variant of Guillain-Barré syndrome (GBS) is very rare. It is characterized by weakness of the upper extremities associated with bulbar symptoms and facial diplegia. Documented cases were post-infectious, a post-vaccination occurrence has not been documented in the available literature. Even rarer is the occurrence of any variant of GBS following the mumps measles rubella (MMR) vaccine. The neurophysiological hallmark of PCB variant of GBS is a combination of myelinopathy and axonopathy, hence, its consideration as a subtype of the acute motor axonal neuropathy (AMAN) variant. It should be suspected in any case of acute-onset flaccid symmetrical weakness …

Furrowed Tongue, Fatten Lip And Facial Droop, Philip Adebayo, Hanifa Mbithe

Internal Medicine, East Africa

No abstract provided.

Dimethyl Fumarate Suppresses Granulocyte Macrophage Colony-Stimulating Factor-Producing Th1 Cells In Cns Neuroinflammation., Farinaz Safavi, Rodolfo Thome, Zichen Li, Guang-Xian Zhang, Abdolmohamad Rostami

Department of Neurology Faculty Papers

Objective To study the immunomodulatory effect of dimethyl fumarate (DF) on granulocyte macrophage colony-stimulating factor (GM-CSF) production in CD4+ T cells in experimental autoimmune encephalomyelitis (EAE) and human peripheral blood mononuclear cells (PBMCs).

Methods We collected splenocytes and CD4+ T cells from C57BL/6 wild-type and interferon (IFN)-γ–deficient mice. For human PBMCs, venous blood was collected from healthy donors, and PBMCs were collected using the Percoll gradient method. Cells were cultured with anti-CD3/28 in the presence/absence of DF for 3 to 5 days. Cells were stained and analyzed by flow cytometry. Cytokines were measured by ELISA in cell supernatants. For in …

Outcome Of Cranial Firearm Injuries In Civilian Population Based On A Novel Classification System, Farrukh Javeed, Asad Abbas, Lal Rehman, Syed Raza Khairat Rizvi, Ali Afzal, Hafiza Fatima Aziz

Section of Neurosurgery

Background: Cranial firearm injuries (CFAIs) are expected to be frequent during warfare; however, it is becoming increasingly common among civilian population in our part of the world. These injuries are associated with significant morbidity and mortality in addition to financial loss. The objective of our study is to evaluate the pattern of gunshot injuries to cranium and their outcome.
Methods: The study was conducted on 114 patients presenting with CFAIs to Jinnah Postgraduate Medical Centre, Karachi, Pakistan, between June 2015 and January 2019. Patients were evaluated with respect to age, gender, pattern of injury, Glasgow coma scale on arrival, radiological …

A Predictive Analytics Model For Differentiating Between Transient Ischemic Attacks (Tia) And Its Mimics, Alia C. Stanciu, Mihai Banciu, Alireza Sadighi, Kyle A. Marshall, Neil Holland, Vida Abedi, Ramin Zand

Faculty Journal Articles

Transient ischemic attack (TIA) is a brief episode of neurological dysfunction resulting from cerebral ischemia not associated with permanent cerebral infarction. TIA is associated with high diagnostic errors because of the subjective nature of findings and the lack of clinical and imaging biomarkers. The goal of this study was to design and evaluate a novel multinomial classification model, based on a combination of feature selection mechanisms coupled with logistic regression, to predict the likelihood of TIA, TIA mimics, and minor stroke.

Failure To Thrive - An Overlooked Manifestation Of Kmt2b-Related Dystonia: A Case Presentation., Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose N. Gelineau-Morel, Shimul Chowdhury, Rady Children’S Institute For Genomic Medicine Investigators, Jennifer Friedman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel KMT2B mutation with several members with failure to thrive to highlight this non-neurologic, but consequential impact of mutation in this gene.

CASE PRESENTATION: We present a case of a 15-year old female who was admitted and evaluated for failure to thrive. On exam, she had severe speech dysfluency, limited ability to protrude the …

Pathogenic Variants In Kptn Gene Identified By Clinical Whole-Genome Sequencing, Isabelle Thiffault, Andrea Atherton, Bryce Heese, Ahmed Abdelmoity, Kailash Pawar, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E. Soden, Carol J. Saunders

Manuscripts, Articles, Book Chapters and Other Papers

Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential. Homozygous or compound heterozygous variants in KPTN have been recently associated with a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. We describe a comprehensive investigation of a 9-yr-old male patient who was admitted to the intensive care …

Investigation Of Japanese Encephalitis Virus As A Cause Of Acute Encephalitis In Southern Pakistan, April 2015-January 2018, Tazeen Fatima, Abida Rais, Erum Khan, Susan L. Hills, Trudy V. Chambers, Aneeta Hotwani, Shahida Qureshi, Saad Shafqat, Saima Malik, Farah Qamar, Fatima Mir, Anthony A. Marfin, Anita K. M. Zaidi, Asif Raza Khowaja, Sadia Shakoor

Department of Pathology and Laboratory Medicine

Background: Japanese encephalitis (JE) occurs in fewer than 1% of JE virus (JEV) infections, often with catastrophic sequelae including death and neuropsychiatric disability. JEV transmission in Pakistan was documented in 1980s and 1990s, but recent evidence is lacking. Our objective was to investigate JEV as a cause of acute encephalitis in Pakistan.
Methods: Persons aged ≥1 month with possible JE admitted to two acute care hospitals in Karachi, Pakistan from April 2015 to January 2018 were enrolled. Cerebrospinal fluid (CSF) or serum samples were tested for JEV immunoglobulin M (IgM) using the InBios JE DetectTM assay. Positive or equivocal samples …

Innervation: The Missing Link For Biofabricated Tissues And Organs, Suradip Das, Wisberty J. Gordián-Vélez, Harry C. Ledebur, Foteini Mourkiot, Panteleimon Rompolas, H. . Isaac Chen, Mijail D. Serruya, D. Kacy Cullen

Department of Neurology Faculty Papers

Innervation plays a pivotal role as a driver of tissue and organ development as well as a means for their functional control and modulation. Therefore, innervation should be carefully considered throughout the process of biofabrication of engineered tissues and organs. Unfortunately, innervation has generally been overlooked in most non-neural tissue engineering applications, in part due to the intrinsic complexity of building organs containing heterogeneous native cell types and structures. To achieve proper innervation of engineered tissues and organs, specific host axon populations typically need to be precisely driven to appropriate location(s) within the construct, often over long distances. As such, …

Variability In The Analysis Of A Single Neuroimaging Dataset By Many Teams, Rotem Botvinik-Nezer, Tom Schonberg, Russell A. Poldrack, Zachary J. Cole, Matthew R. Johnson, Phui Cheng Lim, Evan N. Linz, Douglas H. Schultz, Joshua E. Zosky, Narps Management Team, Jean M. Vettel, More Than 100 Other Co-Authors

Department of Psychology: Faculty Publications

Data analysis workflows in many scientific domains have become increasingly complex and flexible. To assess the impact of this flexibility on functional magnetic resonance imaging (fMRI) results, the same dataset was independently analyzed by 70 teams, testing nine ex-ante hypotheses. The flexibility of analytic approaches is exemplified by the fact that no two teams chose identical workflows to analyze the data. This flexibility resulted in sizeable variation in hypothesis test results, even for teams whose statistical maps were highly correlated at intermediate stages of their analysis pipeline. Variation in reported results was related to several aspects of analysis methodology. Importantly, …

Risk And Protective Factors Of Dementia Among Adults With Post-Traumatic Stress Disorder: A Systematic Review Protocol, Karen A. Lawrence, Theresia M. Pachner, Molly M. Long, Stephanie Henderson, Donna L. Schuman, Brenda L. Plassman

Social Work Faculty Publications

INTRODUCTION: Post-traumatic stress disorder (PTSD) is associated with an increased risk of dementia. Individual epidemiological studies have controlled for several confounders of the relationship between PTSD and increased dementia risk, yet particular risk factors underlying this relationship have not been determined. This systematic review protocol aims to identify risk and protective factors of dementia among adults with PTSD.

METHODS AND ANALYSIS: We will conduct an electronic search of the databases: PubMed, CINAHL, PsychINFO, The Cochrane Library, Scopus and ProQuest Dissertation and Theses Global. After screening the studies, quantitative synthesis will be performed, if possible. Otherwise, a narrative synthesis will be …

Telemedicine For The Spine Surgeon In The Age Of Covid-19: Multicenter Experiences Of Feasibility And Implementation Strategies., Daniel Franco, Thiago Montenegro, Glenn A Gonzalez, Kevin Hines, Aria Mahtabfar, Melvin D Helgeson, Rakesh Patel, James Harrop

Department of Neurosurgery Faculty Papers

STUDY DESIGN: Multicenter study.

OBJECTIVES: The COVID-19 pandemic has obligated physicians to recur to additional resources and make drastic changes regarding the standard physician-patient encounter. In the last century, there has been a substantial improvement in technology, which over the years has opened the door to a new form of medical practicing known as telemedicine.

METHODS: Healthcare workers from three hospitals involved in the care for COVID-19 patients in the united states were invited to share their experience using telemedicine to deliver clinical care to their patients.

RESULTS: Since the appearance of this worldwide outbreak, social distancing has been a …

Posterior Cortical Atrophy: Characteristics From A Clinical Data Registry., Jennifer J Olds, William L Hills, Judith Warner, Julie Falardeau, Lori Haase Alasantro, Mark L Moster, Robert A Egan, Wayne T Cornblath, Andrew G Lee, Benjamin M Frishberg, Roger E Turbin, David M Katz, John A Charley, Victoria S Pelak

Department of Neurology Faculty Papers

No abstract provided.

Association Of Bipolar I Disorder With Conversion Disorder And Syncope- A Retrospective Clinical Study From Pakistan, Qurat Ul Ain Khan, Sana Younus, Hania Hasan, Muhammad Zaman Khan

Pakistan Journal of Neurological Sciences (PJNS)

Bipolar I disorder (BD I) is a chronic mood disorder that begins in early adulthood. Its association with conversion disorder and syncope has not been widely studied, especially in Pakistani population.

Impact Of Order Set Use On Stroke Care, Bilal Nadeem, Edward Waseleski, Meryem Maras-Casey, Sabih Alam, Adnan Faruqui, Michael Gutierrez, Maruthsakhi Molugu, Christina Oricompil, Ashar Mahmood, Katherine Torralba, Fatima Agha, Nour Tlimat, Olu Oyesanmi, Irina Davis, Salman Muddassir, Nikolay Mitzov

West Florida Division GME Research Day 2020

• A case control study on stroke patients was recently completed for a quality improvement (QI) investigation.
• The objective was to determine if the use of either Hemorrhagic or Ischemic Stroke Order Set had an effect on the length of stay (LOS) or adherence to current stroke guideline recommendations

Permanent Pre-Operative Cerebrospinal Fluid Diversion In Paediatric Patients With Posterior Fossa Tumours, Ummey Hani, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim

Section of Neurosurgery

Management options for obstructive hydrocephalus in children with posterior fossa tumours have been debated upon throughout the course of neurosurgical practice. Permanent pre-operative CSF diversion via ventricular shunts or endoscopic third ventriculostomy have been employed to prevent the possible persistence of hydrocephalus after tumour removal, but is considered unnecessary and even dangerous amongst a large group of neurosurgeons. In this paper, we have reviewed the literature for the merits and demerits of pre-operative permanent CSF diversion in paediatric patients presenting with posterior fossa tumours.

Cns Tuberculosis And Stroke, Burden, Management Challenges And Future Needs For Care And Research, A H Jokhio, Simon M Bell, Mohammad Wasay, Arshad Majid

Pakistan Journal of Neurological Sciences (PJNS)

An estimated 10 million cases of Tuberculosis (TB) and 1.6 million deaths due to this disease occurred worldwide in 2017 (1). About 1.7 billion people, 23% of the world’s population are estimated to have latent TB infection and are thus at risk of developing active TB disease during their life time. TB is mostly common in developing countries and Pakistan ranks 5th among 30 high-burden countries and 5th for Drug Resistant TB (DRTB). The incidence of TB in Pakistan is 267 per 100,000 (1) with an estimated 525,000 cases in 2017 including 57,000 cases among those who were less than …

Acute Colonic Pseudo Obstruction (Ogilvie Syndrome) In A Patient With Hemorrhagic Stroke: A Case Report., Muhammad Dawood Sohail, Haroon Khan, Zainab Alam, Sardar M Alam

Pakistan Journal of Neurological Sciences (PJNS)

Acute colonic pseudo-obstruction (ACPO) or Ogilvie syndrome is a functional motility disorder of the colonic bowel without any organic or mechanical obstruction. Autonomic disturbance which is one of the underlying factors that can lead to Ogilvie syndrome, is caused by stroke. Acute colonic pseudo- obstruction (ACPO) in the setting of stroke is not often reported in medical literature. Various modalities of treatment strategies are recommended including conservative approaches, medical therapies, endoscopic and surgical procedures. We will discuss a patient suffering from a hemorrhagic stroke in the right basal ganglia that developed Acute Colonic Pseudo Obstruction and improved subsequently with conservative …