Neurology Commons^™

A Rare Presentation Of Wilson Disease: A Case Report, Soban Khan, Zaid Waqar, Haris Majid, Ahmed Farhan, Shajee Siddique

Pakistan Journal of Neurological Sciences (PJNS)

Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter. Due to its deficiency, there is the build-up of copper in the liver and brain among other organ systems and it leads to the development of various clinical abnormalities but commonly presents either as hepatic dysfunction and/or cirrhosis in young patients with movement disorder. Here we present a case that presented with hypoglycemia and hypothermia in absence of any infection, drug abuse or metabolic abnormality. He was later diagnosed as Wilson disease. Wilson …

Prevalence And Factors Associated With Pre-Hospital Delay Among Acute Stroke Patients At Mulago And Kiruddu National Referral Hospitals, Kampala: A Cross-Sectional Study, Chris Burant, Martha Sajatovic

Faculty Scholarship

Background: Despite advancements in acute stroke care, acute stroke patients present late for care resulting in high mortality and poor functional outcomes. This study determined the prevalence of pre-hospital delay and associated factors among adult acute stroke patients in Uganda. Methods: In a hospital based, cross-sectional study, one hundred and forty-three study participants with confirmed acute stroke presenting to the emergency units of Mulago and Kiruddu national referral hospitals were enrolled. Using an interviewer-administered questionnaire, details on sociodemographics, onset of stroke, arrival at the tertiary facility, health system and clinical factors were collected. Descriptive statistics and modified Poisson regression analyses …

Isoform-Level Transcriptome-Wide Association Uncovers Genetic Risk Mechanisms For Neuropsychiatric Disorders In The Human Brain, Arjun Bhattacharya, Daniel D Vo, Connor Jops, Minsoo Kim, Cindy Wen, Jonatan L Hervoso, Bogdan Pasaniuc, Michael J Gandal

Faculty, Staff and Student Publications

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance on total gene expression as a molecular outcome measure. This challenge is particularly relevant for the brain, in which extensive splicing generates multiple distinct transcript-isoforms per gene. Due to complex correlation structures, isoform-level modeling from cis-window variants requires methodological innovation. Here we introduce isoTWAS, a multivariate, stepwise framework integrating genetics, isoform-level expression and phenotypic associations. Compared to gene-level methods, isoTWAS improves both isoform and gene expression prediction, yielding more testable genes, and increased power …

Single-Cell Dna Methylome And 3d Multi-Omic Atlas Of The Adult Mouse Brain, Hanqing Liu, Qiurui Zeng, Jingtian Zhou, Anna Bartlett, Bang-An Wang, Peter Berube, Wei Tian, Mia Kenworthy, Jordan Altshul, Joseph R Nery, Huaming Chen, Rosa G Castanon, Songpeng Zu, Yang Eric Li, Jacinta Lucero, Julia K Osteen, Antonio Pinto-Duarte, Jasper Lee, Jon Rink, Silvia Cho, Nora Emerson, Michael Nunn, Carolyn O'Connor, Zhanghao Wu, Ion Stoica, Zizhen Yao, Kimberly A Smith, Bosiljka Tasic, Chongyuan Luo, Jesse R Dixon, Hongkui Zeng, Bing Ren, M Margarita Behrens, Joseph R Ecker

Faculty, Staff and Student Publications

Cytosine DNA methylation is essential in brain development and is implicated in various neurological disorders. Understanding DNA methylation diversity across the entire brain in a spatial context is fundamental for a complete molecular atlas of brain cell types and their gene regulatory landscapes. Here we used single-nucleus methylome sequencing (snmC-seq3) and multi-omic sequencing (snm3C-seq)1 technologies to generate 301,626 methylomes and 176,003 chromatin conformation–methylome joint profiles from 117 dissected regions throughout the adult mouse brain. Using iterative clustering and integrating with companion whole-brain transcriptome and chromatin accessibility datasets, we constructed a methylation-based cell taxonomy with 4,673 cell groups and 274 …

Radiographic And Clinical Outcomes With Particle Or Liquid Embolic Agents For Middle Meningeal Artery Embolization Of Nonacute Subdural Hematomas, Jonathan P Scoville, Evan Joyce, Daniel A Tonetti, Michael T Bounajem, Ajith Thomas, Christopher S Ogilvy, Justin M Moore, Howard A Riina, Omar Tanweer, Elad I Levy, Alejandro M Spiotta, Bradley A Gross, Brian T Jankowitz, C Michael Cawley, Alexander A Khalessi, Aditya S Pandey, Andrew J Ringer, Ricardo Hanel, Rafael A Ortiz, David Langer, Michael R Levitt, Mandy Binning, Philipp Taussky, Peter Kan, Ramesh Grandhi

Faculty, Staff and Students Publications

BACKGROUND: Middle meningeal artery (MMA) embolization is an apparently efficacious minimally invasive treatment for nonacute subdural hematomas (NASHs), but how different embolisates affect outcomes remains unclear. Our objective was to compare radiographic and clinical outcomes after particle or liquid MMA embolization.

METHODS: Patients who had MMA embolization for NASH were retrospectively identified from a multi-institution database. The primary radiographic and clinical outcomes-50% NASH thickness reduction and need for surgical retreatment within 90 days, respectively-were compared for liquid and particle embolizations in patients treated 1) without surgical intervention (upfront), 2) after recurrence, or 3) with concomitant surgery (prophylactic).

RESULTS: The upfront, …

Management Strategies Of Unanticipated Intracranial Stenosis During Mechanical Thrombectomy For Acute Stroke: A Survey Of Academic Neurointerventionalists, Tyler T Lazaro, Alex N Hoang, Patrick C Cotton, Huy Q Dang, Omar Tanweer, Daniel M S Raper

Faculty, Staff and Students Publications

BACKGROUND: The optimal approach to the management of intracranial atherosclerotic disease (ICAD) at the time of mechanical thrombectomy (MT) for large vessel occlusion (LVO) remains controversial. The goal of this study is to characterize current practices concerning this challenging clinical situation in a survey of practicing neurointerventionalists.

METHODS: An electronic questionnaire was sent to a cross-section of North American academic neurointerventionalists using publicly available contact information and departmental websites. Prior to analysis, responses were anonymized and categorized by region.

RESULTS: A total of 136/360 responses were recorded from the U.S. and Canada. The mean number of years of practicing as …

Computer Vision In Osteoporotic Vertebral Fracture Risk Prediction: A Systematic Review, Anthony K Allam, Adrish Anand, Alex R Flores, Alexander E Ropper

Faculty, Staff and Students Publications

Osteoporotic vertebral fractures (OVFs) are a significant health concern linked to increased morbidity, mortality, and diminished quality of life. Traditional OVF risk assessment tools like bone mineral density (BMD) only capture a fraction of the risk profile. Artificial intelligence, specifically computer vision, has revolutionized other fields of medicine through analysis of videos, histopathology slides and radiological scans. In this review, we provide an overview of computer vision algorithms and current computer vision models used in predicting OVF risk. We highlight the clinical applications, future directions and limitations of computer vision in OVF risk prediction.

Functional And Anatomical Connectivity Predict Brain Stimulation’S Mnemonic Effects, Youssef Ezzyat, James E> Kragel, Ethan A. Solomon, Bradley C. Lega, Joshua P. Aronson, Barbara C. Jobst, Robert E. Gross, Michael R. Sperling, Gregory A. Worrell, Sameer A. Sheth, Paul A. Wanda, Daniel S. Rizzuto, Michael J. Kahana

Department of Neurology Faculty Papers

Closed-loop direct brain stimulation is a promising tool for modulating neural activity and behavior. However, it remains unclear how to optimally target stimulation to modulate brain activity in particular brain networks that underlie particular cognitive functions. Here, we test the hypothesis that stimulation's behavioral and physiological effects depend on the stimulation target's anatomical and functional network properties. We delivered closed-loop stimulation as 47 neurosurgical patients studied and recalled word lists. Multivariate classifiers, trained to predict momentary lapses in memory function, triggered the stimulation of the lateral temporal cortex (LTC) during the study phase of the task. We found that LTC …

Word Reading, Reading Comprehension, And Eye Movements During Reading In Chinese Persons With Aphasia, Xiaobin Wang

Graduate Theses and Dissertations (2019 - present)

Individuals with aphasia (IWA) often exhibit challenges in single word reading as well as in reading comprehension. Recently, eye-tracking technology has become instrumental in delving deeper into reading behaviors. Specifically, it has illuminated the differences in word reading and comprehension abilities among aphasic English speakers. However, there is a noticeable scarcity of research focusing on these aspects among Chinese IWA. The current study aimed to contrast the abilities of Chinese IWA and neurotypical controls in reading single words, with an emphasis on types like regular, irregular, and pseudowords, and reading comprehension abilities. Further, this study investigated the patterns of eye …

Precision Therapy For A Medically Actionable Atp1a3 Variant From A Genomic Medicine Program In An Underserved Population, Cara P Ford, Rebecca O Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A Schmid

Duncan NRI Faculty and Staff Publications

Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.

Methods: After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG …

Shift From Older- To Newer-Generation Antiseizure Medications In People With Acute Ischemic Stroke In Australia: A Population-Based Study, Stella Jung-Hyun Kim, Stephen Wood, Clara Marquina, Emma Foster, J Simon Bell, Jenni Ilomäki

Faculty, Staff and Student Publications

OBJECTIVE: To investigate the trends in antiseizure medications (ASMs) use following ischemic stroke and to examine factors associated with use of newer- and older-generation ASMs.

METHODS: A retrospective cohort study was conducted using state-wide linked health datasets. Patients who were hospitalized with a first-ever ischemic stroke between 2013 and 2017 and were dispensed ASM within 12 months from discharge were included. Logistic regression was used to examine the predictors of receiving newer-generation ASMs. Generalized linear modeling was used to identify factors associated with ASM use after ischemic stroke.

RESULTS: Of 19 601 people hospitalized with a first-ever ischemic stroke, 989 …

Genomic Profiles And Clinical Outcomes Of Penile Squamous Cell Carcinoma With Elevated Tumor Mutational Burden, Andrea Necchi, Philippe E Spiess, Tiago Costa De Padua, Roger Li, Petros Grivas, Richard S P Huang, Douglas I Lin, Natalie Danziger, Jeffrey S Ross, Joseph M Jacob, Rebecca A Sager, Alina Basnet, Gerald Li, Ryon P Graf, Dean C Pavlick, Gennady Bratslavsky

Faculty, Staff and Student Publications

IMPORTANCE: Tumor mutational burden (TMB) is a putative biomarker of efficacy for immune checkpoint inhibitor (ICI) therapies of solid tumors, but not specifically for penile squamous cell carcinoma (PSCC).

OBJECTIVE: To characterize biomarker features and ICI therapy outcomes associated with high TMB in PSCC in the routine clinical practice setting.

DESIGN, SETTING, AND PARTICIPANTS: In this cohort study, 397 PSCC cases were analyzed to identify genomic alterations in more than 300 cancer-associated genes and genomic signatures, including TMB, using a hybrid capture-based comprehensive genomic profiling assay. Tumor mutational burden was categorized as low ([mut/Mb]), high (10-19 mut/Mb), or very high …

Evaluation Of The Quality Of Thyroidectomy-Related Posts On A Video-Based Social Media Platform, Yun J Kim, Matthew Lin, Ryan J Davis, Oluwatobiloba Ayo-Ajibola, Daniel Kwon, Kevin Hur

Faculty, Staff and Student Publications

OBJECTIVE: To evaluate the quality of thyroidectomy-related posts on TikTok, the fastest-growing social media platform worldwide.

METHODS: Videos posted from April 2020 to September 2022 were queried on TikTok using the search terms "thyroidsurgery," "thyroidectomy," and "thyroidremoval." Two reviewers recorded thematic, demographic, and performance data of these posts. The DISCERN instrument was used to evaluate the quality and reliability of the information contained in the videos. Descriptive statistics were used to characterize post-submitter demographics and video content. Simple and multiple linear regression analyses were used to evaluate the association between DISCERN scores and video characteristics. Univariate analysis of variance was …

Impact Of Routine Urine Cultures On Antibiotic Usage In Those Undergoing A Routine Annual Spinal Cord Injury Evaluation, Sarah May, Annette Walder, Casey Hines-Munson, Ivy Poon, S Ann Holmes, Charlesnika T Evans, Barbara W Trautner, Felicia Skelton

Faculty, Staff and Students Publications

OBJECTIVE: The Veterans Health Administration (VHA), the largest single provider of spinal cord injury and disorder (SCI/D) care in the United States, currently mandates that every patient receives a screening urine culture during the annual evaluation, a yearly comprehensive history and physical examination. This testing has shown in a small subset of patients to overidentify asymptomatic bacteriuria that is then inappropriately treated with antibiotics. The objective of the current analysis was to assess the association of the annual evaluation on urine testing and antibiotic treatment in a national sample of Veterans with SCI/D.

DESIGN/METHOD: A retrospective cohort study using national …

Cortical Thickness Is Related To Variability In Heritage Bilingual Language Proficiency, My V H Nguyen, Kelly A Vaughn, Hannah Claussenius-Kalman, Pilar Archila-Suerte, Arturo E Hernandez

Faculty, Staff and Student Publications

Research suggests that bilingual experience is associated with gray matter changes, such that initial language gains are associated with expansion and language expertise is associated with renormalization. Previous studies on language proficiency development primarily focused on between-subjects, quasiexperimental comparisons of monolinguals and bilinguals. This study proposes a new paradigm to examine language expertise and cortical thickness within heritage bilinguals (

Physiological And Molecular Bases Of The Boron Deficiency Response In Tomatoes, Junjun Li, Huihui Fan, Qianqian Song, Lili Jing, Hao Yu, Ruishan Li, Ping Zhang, Fei Liu, Weimin Li, Liangliang Sun, Jin Xu

Faculty, Staff and Student Publications

Boron is an essential microelement for plant growth. Tomato is one of the most cultivated fruits and vegetables in the world, and boron deficiency severely inhibits its yield and quality. However, the mechanism of tomato in response to boron deficiency remains largely unclear. Here, we investigated the physiological and molecular bases of the boron deficiency response in hydroponically grown tomato seedlings. Boron deficiency repressed the expression of genes associated with nitrogen metabolism, while it induced the expression of genes related to the pentose phosphate pathway, thereby altering carbon flow to provide energy for plants to cope with stress. Boron deficiency …

Sleep Duration, Sleep Quality, And Weapon Carrying In A Sample Of Adolescents From Texas, Arthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, Ludovica Montanucci, Cornelius Gati, Chiara Klöckner, Katrine M Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T Deng, Ángel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M Bouman, M J Hajianpour, Deb K Pal, Marc Engelen, Eveline E O Hagebeuk, Marwan Shinawi, Alexis R Heidlebaugh, Kathryn Oetjens, Trevor L Hoffman, Pasquale Striano, Amanda S Freed, Line Futtrup, Thomas Balslev, Anna Abulí, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene Van Engelen, Katherine B Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R Lemke, Jacob Tiller, Amber N Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S Møller, Dennis Lal

Faculty, Staff and Student Publications

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making.

We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.1% lp/p). Clinical and functional data were available for a subset of 126 individuals. We explored the potential associations of variant positions on the GAT1 3D structure with variant pathogenicity, altered molecular function and phenotype severity using bioinformatic approaches.

The GAT1 transmembrane domains …

Behavioral Or Neuropsychiatric Symptoms Of Alzheimer’S Disease: From Psychopathology To Pharmacological Management, Antonio Lucio Teixeira, Natalia Pessoa Rocha, Jennifer Gatchel

Faculty, Staff and Student Publications

Neuropsychiatric or behavioral symptoms of dementia encompass a series of disorders, such as anxiety, depression, apathy, psychosis, and agitation, all commonly present in individuals living with dementia. While they are not required for the diagnosis of Alzheimer's disease (AD), they are ubiquitously present in all stages of the disease, contributing to negative clinical outcomes, including cognitive decline, functional disability, and caregiver burden. Neuropsychiatric symptoms have been conceptualized not only as risk factors but as clinical markers of decline along the AD spectrum. The concept of "mild behavioral impairment", the behavioral correlate of mild cognitive impairment, has been proposed within this …

Altered Amygdala Volumes And Microstructure In Focal Epilepsy Patients With Tonic-Clonic Seizures, Ictal, And Post-Convulsive Central Apnea, Claudia Zeicu, Antoine Legouhy, Catherine A Scott, Joana F A Oliveira, Gavin P Winston, John S Duncan, Sjoerd B Vos, Maria Thom, Samden Lhatoo, Hui Zhang, Ronald M Harper, Beate Diehl

Faculty, Staff and Student Publications

Objectives

Sudden unexpected death in epilepsy (SUDEP) is a leading cause of death for patients with epilepsy; however, the pathophysiology remains unclear. Focal‐to‐bilateral tonic–clonic seizures (FBTCS) are a major risk factor, and centrally‐mediated respiratory depression may increase the risk further. Here, we determined the volume and microstructure of the amygdala, a key structure that can trigger apnea in people with focal epilepsy, stratified by the presence or absence of FBTCS, ictal central apnea (ICA), and post‐convulsive central apnea (PCCA).

Methods

Seventy‐three patients with focal impaired awareness seizures without FBTC seizures (FBTCneg group) and 30 with FBTCS (FBTCpos group) recorded during …

Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic Criteria, Ciaran M Considine, M Agustina Rossetti, Victor A Del Bene, Kendra Anderson, Sharlet A Anderson, Andrea S Celka, Mary C Edmondson, Amelia L Nelson-Sheese, Adam Piccolino, Antonio L Teixeira, Julie C Stout

Faculty, Staff and Student Publications

Background: The clinical diagnosis of manifest Huntington's disease (HD) relies on a high level of clinical confidence (99% confidence) of HD-consistent motor signs. Longitudinal data have reliably identified cognitive and behavioral dysfunction predating clinical motor diagnosis by up to 15 years. Reliance on motor signs to establish a diagnosis of HD increases risk of early misdiagnosis or delayed diagnosis. Clinical neuropsychologists are uniquely positioned to advise on the clinical application of the Movement Disorder Society Task Force's recently proposed non-motor diagnostic criteria for HD.

Objectives: To provide (1) a recommended clinical approach toward non-motor diagnostic criteria in persons with HD …