Neurology Commons^™

Seeking Traditional Health Practitioners And Use Of Complementary/Alternative Medicines In The Management Of Movement Disorders In Africa: A Multicenter Continental Study, Ali Shalash, Tamer Roushdy, Samia Sassi, Oluwadamilola Ojo, Yusuf Jamnagerwalla, Ahmed Sheikh, Yasser Mecheri, Maouly Fall, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Background Traditional health practitioners (THP) and complementary and alternative medicines (CAM) play a well-recognized role in Africa. However, their role in treating movement disorders (MD) remains poorly studied.

Objective This large multicenter continental study aimed to investigate the prevalence of seeking and consulting THPs and using CAMs among people with MDs in different African countries and the associated factors of their use.

Methods This study involved 12 sites within 11 African countries. We developed and distributed a structured questionnaire that documented frequency, attitudes, beliefs, and factors related to patients' engagement with THPs and use of CAMs.

Results We surveyed 1158 …

Non-Synaptic Function And Localization Of Syntaxin-Binding Protein 1 In A Mouse Model Of Stxbp1-Related Epileptic Encephalopathy, Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar, Joo Hyun Kim, Wu Chen, Mingshan Xue, Alexey I Nesvizhskii, Michael D Uhler, Jack M Parent, Yu Wang

Duncan NRI Faculty and Staff Publications

Objective: De novo mutations in the syntaxin-binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders. Although STXBP1 has been proposed as a critical presynaptic protein controlling synaptic vesicle exocytosis, clinical phenotypes also suggest that its biological function could be more diverse.

Methods: The expression pattern of STXBP1 was studied using immunostaining in vitro and in vivo. Synaptosome isolation was performed to investigate the synaptic and non-synaptic localization of STXBP1 in the brain. STXBP1 immunoprecipitation followed by mass spectrometry (MS) was conducted to identify protein …

The Filamentous Ultrastructure Of The Popz Condensate Is Required For Its Cellular Function, Daniel Scholl, Tumara Boyd, Andrew P Latham, Alexandra Salazar, Asma M A M Khan, Steven Boeynaems, Alex S Holehouse, Gabriel C Lander, Andrej Sali, Donghyun Park, Ashok A Deniz, Keren Lasker

Duncan NRI Faculty and Staff Publications

Biomolecular condensates have key roles in regulating cellular processes. Yet, the relationship between atomic features and condensate function remains poorly understood. We studied this relationship using the polar organizing protein Z (PopZ). Here, we revealed hierarchical assembly of PopZ into a filamentous condensate by integrating cryo-electron tomography, biochemistry, single-molecule techniques and molecular dynamics simulations. The PopZ helical domain drives filamentation and condensation, while the disordered region inhibits them. Phase-dependent conformational changes prevent interfilament contacts in the dilute phase and expose client-binding sites in the dense phase. Perturbing filament formation in vitro alters the dynamics of scaffold and client proteins and …

Comparative Safety, Efficacy, And Predictors Of Complete Occlusion Of Flow Diverter Devices In The Treatment Of Unruptured Distal Anterior Cerebral Artery Aneurysms, Hamza Adel Salim, Luca Scarcia, Frédéric Clarençon, Orabi Hajjeh, Motaz Daraghma, Davide Simonato, Yan-Lin Li, Eimad Shotar, Kevin Premat, Ameer E. Hassan

School of Medicine Publications

Background: Flow diverters (FDs) are increasingly used for cerebral aneurysms, including distal anterior cerebral artery (DACA) aneurysms, but comparative data between devices in this challenging location are limited.

Objective: To compare the safety and efficacy of Pipeline, Silk Vista Baby (SVB), and FRED Jr. FDs for unruptured DACA aneurysms and identify predictors of complete occlusion.

Methods: We retrospectively analyzed 166 patients treated with FDs at 39 centers in 14 countries (2018–2022) from the CRETA registry. Outcomes included aneurysm occlusion (O’Kelly–Marotta [OKM] scale), complications, retreatment, modified Rankin Scale (mRS) scores, and independent predictors of complete occlusion using multivariable Cox regression.

Results: …

Comparative Safety, Efficacy, And Predictors Of Complete Occlusion Of Flow Diverter Devices In The Treatment Of Unruptured Distal Anterior Cerebral Artery Aneurysms, Hamza Adel Salim, Luca Scarcia, Frédéric Clarençon, Orabi Hajjeh, Motaz Daraghma, Davide Simonato, Yan-Lin Li, Eimad Shotar, Kevin Premat, Pascal Jabbour, Stavropoula Tjoumakaris, Michael R. Gooch, Marios Psychogios, Nikos Ntoulias, Peter Sporns, Ajit S. Puri, Jasmeet Singh, Anna Luisa Kuhn, Ameer E. Hassan, Oktay Algin, Markus A. Möhlenbruch, Sophia Hohenstatt, Riccardo Russo, Mauro Bergui, Oded Goren, Matthew J. Kole, Nourou Dine Adeniran Bankole, Richard Bibi, Gregoire Boulouis, Takeshi Morimoto, Fumihiro Sakakibara, Raoul Pop, Ciprian Juravle, Joanna W. K. Ho, Ãngel Ferrario, Virginia Pujol Lereis, Jared Cooper, Chirag D. Gandhi, Giancarlo Salsano, Lucio Castellan, Arturo Consoli, Alessandro Sgreccia, Eytan Raz, Charlotte Chung, Julien Burel, Chrysanthi Papagiannaki, Umair Rasheed, Khawaja Muhammad Baqir Hassan, Hong Tao, Zhe Ji, Riitta Rautio, Matias Sinisalo, Maria Ruggiero, Elvis Lafe, Valerio Da Ros, Luigi Bellini, Joseph Domenico Gabrieli, Francesco Causin, Michael R. Levitt, Kate Carroll, Zachary Abecassis, Antonio Armando Caragliano, Sergio Lucio Vinci, Guillaume Bellanger, Christophe Cognard, Gaultier Marnat, Lisa Saleille, Nicola Limbucci, Francesco Capasso, Mariangela Piano, Claudia Rollo, Alexis Guedon, Francesco Arpaia, Andrea Romi, Fortunato Di Caterino, Alessandra Biondi, Erwah Kalsoum, Mykola Vyval, Adrien Guenego, Than Nguyen, Mohamad Abdalkader, Thibault Agripnidis, Aman B. Patel, Vitor Mendes Pereira, Maurizio Fuschi, Alessandro Pedicelli, Vivek Yedavalli, Max Wintermark, Andrea M. Alexandre, Adam A. Dmytriw, Creta Investigators

Department of Neurosurgery Faculty Papers

BACKGROUND: Flow diverters (FDs) are increasingly used for cerebral aneurysms, including distal anterior cerebral artery (DACA) aneurysms, but comparative data between devices in this challenging location are limited.

OBJECTIVE: To compare the safety and efficacy of Pipeline, Silk Vista Baby (SVB), and FRED Jr. FDs for unruptured DACA aneurysms and identify predictors of complete occlusion.

METHODS: We retrospectively analyzed 166 patients treated with FDs at 39 centers in 14 countries (2018–2022) from the CRETA registry. Outcomes included aneurysm occlusion (O’Kelly–Marotta [OKM] scale), complications, retreatment, modified Rankin Scale (mRS) scores, and independent predictors of complete occlusion using multivariable Cox regression.

RESULTS: …

Relationships Between Clinical Symptom Scales And Eeg Biomarkers In Oud Patients, Jess Delange, Benjamin M. Latey, John Glinski, Braden Ashcraft, Jasmine Pannu, Cassidy Beatty, Lauren Knudson, Benjamin Chafetz, Bryan Fugal, Patrick Tanner Brain, N P. Griffin, Christopher Gowans, Amanda Brandaris, Amanda Page, Blake D. Harris, Sophia Delgado, Lorissa Thorpe, Kyle Bills, Andrew Payne

Annual Research Symposium

This poster examines the relationship between clinical symptom scales and electroencephalographic (EEG) biomarkers in patients with Opioid Use Disorder (OUD). Participants from inpatient substance use treatment facilities completed validated mental health and withdrawal assessments, including the COWS, PHQ-9, HAM-A, and ASRS followed by cognitive testing while undergoing 19-lead EEG recording.

Preliminary findings indicate that synthetic opioid use is associated with prolonged P300 response latency across brain regions, suggesting measurable neurophysiologic differences tied to substance type and addiction severity. The study explores how EEG metrics may complement subjective symptom reporting to provide more objective markers of addiction status, co-morbid psychiatric burden, …

The Impact Of Physical Activity And Diet On The Potassium-Chloride Cotransporter 2 In The Central Nervous System: A Literature Review, Benjamin M. Latey, Dustin Bowers, Andrew J. Payne

Annual Research Symposium

No abstract provided.

Investigating Tau Pathology In The Retina And Anterior Segment Structures Of The Eye In A 3-Nitropropionic Acid–Induced Tauopathy Mouse Model, Mohamed Sayed Ahmed Abdel-Kader Qasem

Theses and Dissertations

Background and Objectives: Alzheimer's disease, the most prevalent neurodegenerative disorder in older adults, is characterized by accumulation of hyperphosphorylated tau and amyloid-beta (Aβ) plaques in the central nervous system. Given the retina's shared embryological origin with the brain, its direct neural connectivity via the optic nerve, and similarities in vasculature and age-related degeneration patterns, retinal pathology may serve as an early, non-invasive biomarker for Alzheimer's disease. This study employed 3-nitropropionic acid (3NP) as a pathway-specific tauopathy model driven by mitochondrial dysfunction. The study particularly aimed to investigate whether retinal and corneal tau pathology reflects underlying tau-related neurodegeneration triggered by …

Etiologies, Management, And Outcomes Of Pediatric Stroke In A Tertiary Care Center, Supinya Naruphanthawart, Tanitnun Paprad, Tanai Trongmonthum, Tunchanok Paprad, Krisanachai Chomtho

Chulalongkorn Medical Journal

Background

Recent developments in neuroimaging and treatments, such as thrombolysis and endovascular thrombectomy, have improved across pediatric stroke diagnosis and management. However, no contemporary data exist on stroke characteristics related to clinical outcomes among Thai children.

Objectives

To study clinical characteristics, investigations, and treatments associated with outcomes in Thai pediatric stroke patients.

Methods

Methods: We enrolled children aged 28 days to 18 years with "cerebrovascular disease" recorded as ICD 10 and inpatient records from January 2011 to September 2022. Outcomes included disability at discharge (mRS grade 4-5), in-hospital mortality, and two-year recurrent stroke rate.

Results

Of 206 patients, 53.4% had …

Diagnostic Accuracy Of Cerebral Amyloid Angiopathy Criteria In The First Pathologically Confirmed Thai Cohort: A Pilot Study, Thanapoom Taweephol, Thachamai Smitasiri, Thanakit Pongpitakmetha, Sekh Thanprasertsuk, Anand Viswanathan

Chulalongkorn Medical Journal

Background: The gold standard for diagnosing cerebral amyloid angiopathy (CAA), full brain post-mortem examination, is rarely performed. Current diagnostic criteria, primarily based on clinico-radiological features, were developed from Western populations and may have limited applicability to Asian populations.

Objective: We aimed to evaluate the accuracy of current diagnostic criteria and examine the clinico-radiological characteristics of Thai CAA patients.

Methods: Brain histopathological specimens from patients with clinical symptoms of CAA who underwent neurosurgical procedures, including intracerebral hemorrhage (ICH) evacuation, between 2011 and 2021 at King Chulalongkorn Memorial Hospital, Thailand, were reviewed. Patient characteristics and clinical events for each individual were retrospectively …

Forward Momentum

DePaul Magazine

Mission: Forward, the most ambitious philanthropic campaign in DePaul’s history, is fueling purpose-driven education to solve society’s biggest challenges. Learn and watch videos about DePaul programs and initiatives that exemplify the campaign through academic innovation, interdisciplinary collaboration, service-oriented community partnership and activist scholarship.

Hyperdensity On Head Ct—An Imaging Review, Ramsis Benjamin, Christian Menard, Erik Larson

School of Medicine Publications

The 3D images derived from non-contrast Computed Tomography (NCCT) scans provide a glimpse into the intra- and extracranial structures, based on the ability of electromagnetic X-rays to penetrate through various tissue densities. The gray matter, for example, possesses a higher density than the white matter, absorbs more X-rays, allows less penetration (attenuation), and thus has larger Hounsfield units (HU), the mathematical value of attenuation coefficient. The CT scanner’s wide availability and ease of use allow for quick assessment of acute neurosurgical abnormalities, such as hemorrhages, mass effect, hydrocephalus, and traumatic injuries. An attenuation value of +60 to +90 HU generally …

Interrelationship Between Body Mass Index, Venous Sinus Pressures, Craniospinal Elastance, And Intracranial Pressure In Idiopathic Intracranial Hypertension, Rachel Wang, Ba, Bs, Scott W. Keith, Phd, Pascal M. Jabbour, Md, Stavropoula I. Tjoumakaris, Md, Michael J. Marmura, Md, Michael R. Gooch, Md, Hsiangkuo Yuan, Md, Phd

Alpha Omega Alpha Research Symposium Posters

Purpose: To investigate the interrelationship between body mass index (BMI), venous sinus pressure (VSP), and craniospinal elastance in determining lumbar puncture opening pressure (LP OP) in idiopathic intracranial hypertension (IIH).

Methods: A single-center retrospective chart review was conducted to identify patients who received venous manometry (8/2021-11/2025) followed by LP within 7 days before stenting. VSPs were measured at standardized locations, including the torcula (TP) and sigmoid/jugular (SIJ) sinuses. Elastance was calculated as (OP – closing pressure)/volume of CSF removed. Statistical analysis (JASP 0.19.3) was performed using generalized linear model (Gaussian identity; scaled center) to assess relationships between LP OP, BMI, …

Hallucinations And Diabetes – Could It Be The Hip? An Interesting Case Of Cobalt Poisoning, Mahrukh Tariq, Zauraiz Anjum

Advances in Clinical Medical Research and Healthcare Delivery

Cobalt (Co) poisoning has been described historically in beer-drinkers when cobalt was used as an additive. In present times, this type of poisoning is usually caused by occupational exposure or metal prosthesis breakdown. We present a case of Co poisoning from metal prosthesis breakdown with exceptionally high levels, and thus, some unique symptoms. Interestingly our patient not only had symptoms commonly associated with Co poisoning, e.g., paresthesia, sensory-neural hearing loss, acute kidney failure, but also developed new onset diabetes, which is not commonly associated with this type of pathology. Moreover, when we had this patient under our care, we had …

Neuroinflammation And Its Role In Depression– A Review Of Emerging Biomarkers And Therapeutic Targets, Sophia M. Valerino

Advances in Clinical Medical Research and Healthcare Delivery

Major depressive disorder (MDD) is a prevalent and debilitating mental illness that affects millions globally. Traditionally, the pathophysiology of MDD was thought to be due primarily neurotransmitter imbalances. However, emerging research highlights the role of neuroinflammation in MDD pathogenesis. Elevated levels of pro-inflammatory cytokines, microglial activation, and blood-brain barrier dysfunction have been implicated in the etiology of MDD. Additionally, biomarkers such as C-reactive protein and neuroimaging findings further support the neuroinflammatory hypothesis. This growing body of evidence has led to increased interest in novel treatment approaches, including anti-inflammatory medications and lifestyle interventions, as potential therapeutic strategies. While selective serotonin reuptake …

Gabapentin Induced Seizures: A Rare Presentation Of Toxicity, Muhammad Umer Mukhtar, Akaansha Varma, Abdullah M. Firoze Ahmed

Advances in Clinical Medical Research and Healthcare Delivery

Gabapentin is a medication used for the management of neuropathic pain, focal seizures, and several other medical conditions. We report a case of a young male who experienced generalized tonic clonic seizures following the intentional ingestion of 31 grams of gabapentin. This case describes an unusual manifestation of gabapentin toxicity, namely seizures, and highlights the overdose of gabapentin for recreational purposes. Furthermore, this report emphasizes the rising misuse of gabapentin and underscores the importance of providers remaining vigilant in recognizing potential substance use disorders.

Improvements In Eeg Tracing Following Initiation Of Cannabidiol: A Case Report, Katherine Horman, Ara Hall, Kailash Pawar

Posters

No abstract provided.

“Now That The Baby Is Out, I Can Be Vaccinated”: A Qualitative Study On Covid-19 Vaccine Hesitancy In Pregnant Women In Kilifi, Kenya, Angela Koech, Onesmus Wanje, Grace Mwashigadi, Geoffrey Katana, Richmond Mdindi, Peter Mwangome, Rachel Craik, Marianne Vidler, Mai-Lei Kinshella, Marleen Temmerman

Centre of Excellence in Women and Child Health

COVID-19 vaccines are safe and effective in pregnancy, but vaccine hesitancy limits uptake and effectiveness. This study explored COVID-19 vaccine hesitancy in pregnancy in Kilifi, coastal Kenya, to elicit reasons for vaccine hesitancy and acceptance, and to compile misconceptions around vaccination in pregnancy. Twenty-three in-depth interviews were conducted with pregnant women, mothers who had given birth in the previous 2 years and health workers (community health promoters, nurses, and supervisors). Data were analyzed using thematic template analysis based on the Vaccine Hesitancy Determinants Matrix. Concern about vaccine safety for the unborn baby was a major driver of hesitancy. Many pregnant …

Normative Growth Trajectories Of Fetal Brain Regions Validated By Satisfactory Maturation Of Neurodevelopmental Domains At 2 Years Of Age, Madeleine Wyburd, Stephen Kennedy, Michelle Fernandes, Nicola Dinsdale, Linde Hesse, Robert Gunier, Leila Ismail, Eric Ohuma, Michael Gravett, Maria Carvalho

Obstetrics and Gynaecology, East Africa

We previously constructed a qualitative, 3D ultrasound derived atlas of the normative spatiotemporal dynamics of fetal brain maturation. Here, using the same healthy multi-national cohort, we applied deep learning methods to 4205 fetal brain scans from 18–27 weeks’ gestation, to produce an extensive, quantitative description of the growth of 16 fetal brain structures associated with satisfactory domain-specific neurodevelopmental scores at 2 years of age. The methodology, which is publicly available, takes less than 10 seconds per scan. We define 28 region-specific, functionally relevant, normative growth trajectories, a ratio between the relative volumes of the insular (rILV) and parietal (rPLV) lobes …

Mapping Social Determinants Of Health Data In Sub-Saharan Africa: A Scoping Review Protocol, Felix Anyiam, Jessica Gjonaj, Ngeresa Osango, Richard Mugo, Peace Aber, Jasmit Shah, Judith Mangeni, Rajesh Vedanthan, Joseph Hogan, Ann Mwangi

Internal Medicine, East Africa

Introduction Research has increasingly underscored the impact of factors such as socioeconomic status, education, healthcare access, housing and environmental conditions in shaping population health outcomes. These factors, collectively called social determinants of health (SDOH), provide crucial context for understanding drivers of health outcomes. In sub-Saharan Africa (SSA), the study of SDOH is critical due to the region’s unique sociocultural and economic conditions. Understanding how SDOH interacts with health systems and capturing SDOH in data is crucial for informing modelling efforts and policies improving population health more effectively. This scoping review aims to map the types of data used to capture …

Population-Scale Sequencing Resolves Determinants Of Persistent Ebv Dna, Sherry S Nyeo, Erin M Cumming, Oliver S Burren, Meghana S Pagadala, Jacob C Gutierrez, Thahmina A Ali, Laura C Kida, Yifan Chen, Hoyin Chu, Fengyuan Hu, Xueqing Zoe Zou, Benjamin Hollis, Margarete A Fabre, Stewart Macarthur, Quanli Wang, Leif S Ludwig, Kushal K Dey, Slavé Petrovski, Ryan S Dhindsa, Caleb A Lareau

Duncan NRI Faculty and Staff Publications

Epstein–Barr virus (EBV) is an endemic herpesvirus implicated in autoimmunity, cancer and neurological disorders. Although primary infection is often subclinical, persistent EBV infection can drive immune dysregulation and long-term complications. Despite the ubiquity of infection, the determinants of EBV persistence following primary exposure remain poorly understood, although human genetic variation partially contributes to this phenotypic spectrum1–3. Here we demonstrate that existing whole genome sequencing (WGS) data of human populations can be used to quantify persistent EBV DNA. Using WGS and health record data from the UK Biobank (n = 490,560) and All of Us ( …

Rare Heterozygous Missense Variants In Vsx2 Are Associated With Retinal Detachment, Daniel C Brock, Justin S Dhindsa, Yifan Chen, Vida Ravanmehr, Jonathan Mitchell, Fengyuan Hu, Xiaoyin Li, Likhita Nandigam, Quanli Wang, Kevin Wu, Jessica C Butts, Hardeep S Dhindsa, Benjamin J Frankfort, Nicholas M Tran, Slavé Petrovski, Ryan S Dhindsa

Duncan NRI Faculty and Staff Publications

Retinal detachment (RD) is a sight-threatening emergency requiring urgent intervention to prevent permanent vision loss. While both environmental and genetic risk factors contribute to RD, its complete genetic architecture remains unknown. Here, we performed the largest whole genome sequencing-based case-control study in RD to date, including data from 7,276 RD cases and 236,741 controls in the UK Biobank. Through variant- and gene-level association analyses, we identified VSX2 as a genetic determinant of RD risk while confirming established associations including FAT3, RDH5, and COL2A1. Gene-level collapsing analysis revealed that rare heterozygous missense variants in VSX2 confer a 2.8-fold …

Two Lysosomal Genes Atp13a2 And Gba1 Interact To Drive Neurodegeneration, Mingxue Gu, Jinghan Zhao, Mingxi Deng, Guang Lin, Xueyang Pan, Wenwen Lin, Mengqi Ma, Jinyong Kim, Seul Kee Byeon, Akhilesh Pandey, Lara M Lange, Chad A Shaw, Jonggeol Kim, Joanne Trinh, Christine Klein, Oguz Kanca, Joshua M Shulman, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

Background: Parkinson’s disease (PD) is a genetically complex disorder in which combinations of heterozygous risk variants may contribute to pathogenesis. Many PD risk loci encode lysosomal genes, such as GBA1, a common and potent risk factor, conferring at least a 5-fold increase. However, the mechanisms of GBA1 penetrance remain poorly understood.

Methods: Using Drosophila melanogaster, we performed a genetic interaction screen of lysosomal storage disorder (LSD) genes to identify dominant modifiers of Gba1b (fly homolog of GBA1). Age-dependent locomotor assessments, electroretinograms (ERG), transmission electron microscopy (TEM) analyses and quantification of dopaminergic (DA) neurons were used to assess …

N-Acetylcysteine Is Associated With Changes In Functional Connectivity In Patients With Parkinson's Disease, Daniel A. Monti, George Zabrecky, Daniel Kremens, Tsao-Wei Liang, Nancy A. Wintering, Faezeh Vedaei, Emily Navarreto, Monisha Gupta, Alicia Steinmetz, Anthony J. Bazzan, Feroze Mohamed, Andrew B. Newberg

Marcus Institute of Integrative Health Faculty Papers

INTRODUCTION: This study assessed the changes in functional connectivity from resting functional magnetic resonance imaging (fMRI) in patients with Parkinson's disease (PD) given N-Acetylcysteine (NAC), the prodrug to L-cysteine and a precursor to the natural biological antioxidant glutathione (GSH). The aim of this study was to determine whether NAC is associated with changes in functional connectivity, particularly in the basal ganglia, and improvements in Parkinson's symptoms.

METHODS: Forty-four patients with PD were randomized to either weekly intravenous infusions of NAC (50 mg/kg) plus oral doses (500 mg twice per day) for six months plus standard of care, or standard of …

Apolipoprotein E4 And Its Later-Life Health Effects On The Multiple Sclerosis Population, Dean Zeldich, Chia Hsin Cheng, Yi Guan, Sriman Narain, Bang-Bon Koo

Department of Neurology Faculty Papers

BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) is a chronic autoimmune disease causing neuroinflammation and neurodegeneration. The apolipoprotein E4 (APOE4) allele, a major genetic risk factor for late-onset Alzheimer's Disease, accelerates cognitive decline and neuroinflammatory processes, including blood-brain-barrier disruption. This study explores the impact of APOE4 on later-life health in MS patients using biomarkers from the UK Biobank.

METHODS: MS patients were grouped by APOE4 carrier status: MS-E4 and MS-nonE4. Age- and sex-matched non-MS controls (control-E4, control-nonE4) were included for comparison. Analyses assessed retinal nerve fiber layer thickness (RNFL) from optical coherence tomography (OCT), blood biomarkers, cognitive performance, and brain magnetic …

2025 Highlights In Non-Invasive Neurostimulation And Neuromodulation For Headache Management, Chai Ching Ng, Hsiangkuo Yuan

Department of Jefferson Headache Center Papers and Presentations

No abstract available

Using The Linear References From The Pangenome To Discover Missing Autism Variants, Yang Sui, Jiadong Lin, Michelle D Noyes, Youngjun Kwon, Isaac Wong, Nidhi Koundinya, William T Harvey, Mei Wu, Kendra Hoekzema, Katherine M Munson, Gage H Garcia, Jordan Knuth, Julie Wertz, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Rafael A Polo Prieto, Rebecca Meyer-Schuman, Fisher Cherry, Davut Pehlivan, Bernhard Suter, Jonas A Gustafson, Danny E Miller, Human Pangenome Reference Consortium (Hprc), Hanna Berk-Rauch, Tomasz J Nowakowski, Aravinda Chakravarti, Huda Y Zoghbi, Evan E Eichler

Duncan NRI Faculty and Staff Publications

To better understand large-effect pathogenic variation associated with autism, we generated long-read sequencing (LRS) data to construct phased and near-complete genome assemblies (average contig N50 = 43 Mbp, QV = 56) for 189 individuals from 51 families with unsolved cases. We applied read- and assembly-based strategies to facilitate comprehensive characterization of de novo mutations, structural variants (SVs), and DNA methylation. Using LRS pangenome controls, we efficiently filtered >97% of common SVs exclusive to 87 offspring. We find no evidence of increased autosomal SV burden for probands when compared to unaffected siblings yet observe a suggestive trend toward an increased SV …

Tead-Independent Mechanisms Of Yap Function In Cardiomyocyte Cell Cycle Reentry, Bing Xie, Jeffrey Steimle, Vaibhav Deshmukh, Lin Liu, Chang-Ru Tsai, Todd R Heallen, Wyatt Paltzer, Yuka Morikawa, Fansen Meng, Jun Wang, James F Martin

Faculty, Staff and Students Publications

Adult mammalian hearts exhibit limited regenerative capacity because of the restricted renewal of cardiomyocytes. Recent studies reveal that mammalian hearts exhibit transient regenerative potential within a short time frame after birth, suggesting a regulatory mechanism that prevents adult hearts from initiating a regenerative response to cardiac injury. Here, we discovered that an active form of YAP, named YAP6SA, which is not inhibited by the Hippo signaling pathway and does not interact with TEADs, induces cardiomyocyte cell cycle reentry. In addition, YAP6SA interacts with scaffold protein MPDZ to regulate Rho GTPases and promote cell cycle progression in cardiomyocytes (CMs). Importantly, YAP6SA …

Rare Heterozygous De Novo Variants In Rapgef2 Are Associated With A Neurodevelopmental Disorder, Ali H Bereshneh, Kirkland A Wilson, Xueyang Pan, Shabab B Hannan, Megan A Cooper, Jullianne Diaz, Eyby Leon, Tiana M Moses, Mahshid S Azamian, Daryl A Scott, Ping Yee Billie Au, Juan Pablo Appendino, Ingrid E Scheffer, Antony Kaspi, Melanie Bahlo, Michael S Hildebrand, Angela T Morgan, Ekanem Ekure, Joshua M Shulman, Friedhelm Hildebrandt, Jennifer E Posey, Paul Kruszka, Eric Vilain, Shinya Yamamoto, Oguz Kanca, Seth Berger, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

Purpose: RAPGEF2 encodes a guanine nucleotide exchange factor (GEF) that activates small GTPases and has not been linked to a Mendelian disorder. RAPGEF2 is highly intolerant to loss-of-function variants. We report 5 de novo heterozygous variants in RAPGEF2 in unrelated individuals with developmental delay, attention deficit hyperactivity disorder, epilepsy, dysmorphic features, or other manifestations. We used a Drosophila model to assess the functional impact of the identified human variants.

Methods: We generated a Kozak-GAL4 null allele of the Drosophila ortholog of RAPGEF2, PDZ-GEF, and used the allele to determine the gene expression pattern as well as the loss-of-function phenotypes. We …

Single-Cell Rna Sequencing Suggests Different Progenitor Lineages Between Idh Mutant And Idhwt Glioma, Iyad Alnahhas, Allison Kayne, Mehak Khan, Wenyin Shi

Department of Neurology Faculty Papers

Introduction Single-cell RNA sequencing has elucidated the heterogeneity in cancer. Single-cell glioblastoma (GBM) analyses have also proposed the resemblance of GBM cells to radial glia and outer radial glia (oRG) supporting the hypothesis that remnants of developmental tissue get reactivated in cancer. A recent study isolated neural progenitor cells (NPCs) from developing fetal human brain (gestational week 17-19) and classified NPCs based on their expression of THY1 (CD90), CD24 and EGFR. Ventricular radial glia are THY1⁻CD24⁻EGFR⁺ whereas oRG are THY1⁻CD24⁻EGFR⁻. Early neuron precursors are CD24⁺THY1⁻EGFR …