Medical Specialties Commons^™

Use Of Synthetic Water-Soluble Kcc2 To Modulate Chloride Homeostasis In Cultured Dopamine-Neuron-Like Cells, Mason Terry, Andrew Payne, Dario Mizrachi

Annual Research Symposium

No abstract provided.

A Targeted Gene Expression Biomarker Predicts Clinic Low-Risk Meningioma Recurrence, Minh P Nguyen, Ramin A Morshed, Mark W Youngblood, Haley K Perlow, Calixto-Hope G Lucas, Akash J Patel, Joshua D Palmer, Craig M Horbinski, Stephen T Magill, William C Chen, David R Raleigh

Duncan NRI Faculty and Staff Publications

Background: Despite reassuring clinical and histological features, low-grade meningiomas can recur after surgery. Targeted gene expression profiling improves risk stratification of meningiomas, but the utility of this approach for clinical low-risk meningiomas is incompletely understood.

Methods: This was a multicenter retrospective cohort study of meningiomas from patients who were treated at 4 institutions from 1992 to 2023. Adult patients with newly diagnosed or recurrent World Health Organization (WHO) grade 1 meningiomas that were treated with gross total resection (GTR) or subtotal resection (STR), or newly diagnosed WHO grade 2 meningiomas that were treated with GTR, were included. A 34-gene expression …

Neuronal Network Activation Induced By Forniceal Deep Brain Stimulation In Mice, Bin Tang, Zhenyu Wu, Qi Wang, Jianrong Tang

Faculty, Staff and Students Publications

Background: The fimbria-fornix is a nerve fiber bundle that connects various structures of the limbic system in the brain and plays a key role in cognition. It has become a major target of deep brain stimulation (DBS) to treat memory impairment in both dementia patients and animal models of neurological diseases. Previously, we have reported the beneficial memory effects of chronic forniceal DBS in mouse models of intellectual disability disorders. In Rett syndrome and CDKL5 deficiency disorder models, DBS strengthens hippocampal synaptic plasticity, reduces dentate inhibitory transmission or increases adult hippocampal neurogenesis that aids memory. However, the underlying neuronal circuitry …

Motor Pool Selectivity Of Neuromuscular Degeneration In Type I Spinal Muscular Atrophy Is Conserved Between Human And Mouse, Justin C Lee, Wendy K Chung, David J Pisapia, Christopher E Henderson

Faculty, Staff and Students Publications

Spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein. Even though SMN is ubiquitously expressed, the disease selectively affects motor neurons, leading to progressive muscle weakness. Even among motor neurons, certain motor units appear more clinically resistant to SMA. To quantitatively survey selective resistance, we studied extensive neuromuscular autopsies of Type I SMA patients and age-matched controls. We found highly divergent degrees of degeneration of neighboring motor units, even within individual cranial nerves or a single anatomical area such as the neck. Examination of a Type I SMA patient maintained on life support …

Tdp43 Negtively Regulates Tbk1-Medicated Ifn1 Production Through Irf7 Pathway In Neurodegenerative Diseases, Wenjuan Zhang, Zhen Yi, Daihe Yang, Yifan Hao, Feng Zhou, Guohua Song, Cao Huang, Yun Zhou, Bo Huang

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mutations in the genes encoding TAR DNA-binding protein 43 (TDP43) or TANK- binding kinase 1 (TBK1) have been strongly associated with neurological disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. TDP43 is a key component of pathological protein aggregates found in more than 90% of ALS cases, while TBK1 plays a critical role in innate immune signaling and autophagy. Despite these associations, the precise molecular mechanisms linking TDP43 or TBK1 dysfunction to neurodegeneration remain poorly understood. The present study examined the impact of TDP43 on TBK1-mediated type I interferon (IFN1) production in HEK-293T cells. The findings demonstrated that co-expression …

Targeting Tiam1 Enhances Hippocampal-Dependent Learning And Memory In The Adult Brain And Promotes Nmda Receptor-Mediated Synaptic Plasticity And Function, Francisco A Blanco, Md Ali Bin Saifullah, Jinxuan X Cheng, Carlota Abella, Federico Scala, Karen Firozi, Sanyong Niu, Jin Park, Jeannie Chin, Kimberley F Tolias

Faculty, Staff and Students Publications

Excitatory synapses and the actin-rich dendritic spines on which they reside are indispensable for information processing and storage in the brain. In the adult hippocampus, excitatory synapses must balance plasticity and stability to support learning and memory. However, the mechanisms governing this balance remain poorly understood. Tiam1 is an actin cytoskeleton regulator prominently expressed in the dentate gyrus (DG) throughout life. Previously, we showed that Tiam1 promotes dentate granule cell synapse and spine stabilization during development, but its role in the adult hippocampus remains unclear. Here, we deleted Tiam1 from adult forebrain excitatory neurons (Tiam1^fKO) and assessed …

Murder Mystery Solved! Unmasking Multi-Generational Familial Death As A Result Of Brugada Syndrome, Ryan Tam, Sandres Aodish, Jeremiah Tom, Mohammad Jawish

Advances in Clinical Medical Research and Healthcare Delivery

Brugada syndrome is an inherited condition that has an increased risk of developing ventricular arrhythmias and sudden cardiac death. This condition can be diagnosed by using the Shanghai Scoring System. Here, we present a patient with an incidental finding of Type 1 Brugada pattern on electrocardiogram amidst atypical neurological findings on presentation to the emergency department and a history of cardiac-related familial deaths of uncertain etiology.

Unilateral Hearing Loss Caused By Bilateral Otosclerosis In The Context Of Prior Viral Infection - Case Report, Ryan Tam, Michael Mullinax, Timothy Ehmann, Bryan Scott

Advances in Clinical Medical Research and Healthcare Delivery

This is a case report of a patient who presented with left sided hearing loss. The patient was found to have mixed conductive and sensorineural hearing loss of the left ear and restrictive hearing of the right ear. Subsequent imaging demonstrated evidence of bilateral otosclerosis. Otosclerosis is characterized by progressive pathological bone remodeling in the otic capsule, resulting in hearing loss. Given the disease burden of otosclerosis and the corresponding effects on quality of life, providers must have knowledge of the disease to incorporate it into working differential diagnoses for patients presenting with hearing loss. With increasing recognition of otosclerosis …

Anatomy And Variations Of The Carina And Its Cartilaginous Makeup: A Cadaveric Study, Chung Yoh Kim, Kristen Rizzuto, Daniel Tahan, Devendra Shekhawat, Rarinthorn Samrid, Yoko Tabira, Stephen J. Bordes, Joe Iwanaga, R. Shane Tubbs

School of Medicine Faculty Publications

Purpose: The carina, located at the bifurcation of the trachea, has been regarded as a part of the trachea. Although clinically useful as an anatomical landmark, studies of its detailed morphology are lacking in the literature. Methods: The distal trachea and left and right main bronchi were harvested from 32 cadavers and the carina studied using microsurgical dissection, endoscopy, micro-CT, and histology. Results: The right bronchial cartilages were most commonly involved in forming the carina (72.41%), and the left bronchial cartilages were the second most commonly involved (37.93%). The carinal cartilages were slightly deviated to the left of midline in …

Early Surgical Decompression For The Treatment Of Hourglass-Like Constriction Of The Posterior Interosseus Nerve, Nathan Redlich, Matan Ozery, Adam Haydel, Charles Cush, Rasheed Ahmad

School of Medicine Faculty Publications

Posterior interosseous nerve (PIN) syndrome refers to a rare compressive neuropathy of the PIN resulting in motor dysfunction of the forearm extensor compartment. Often, surgical exploration will reveal extrinsic structures that mechanically compress the nerve. Less frequently, PIN syndrome has been reported with a visible hourglass-like constriction and no identifiable causative adjacent structures. In our report, we describe an adolescent patient with PIN syndrome and associated hourglass-like constriction of the PIN. For diagnosis, we used physical examination, preoperative imaging, nerve studies, and intraoperative findings. To monitor recovery, we performed serial neurological examinations and documented patient-reported functional outcomes. The patient underwent …

From Bench To Bedside: Murine Models Of Inherited And Sporadic Brain Arteriovenous Malformations, Ashely R Ricciardelli, Gael Genet, Nafiisha Genet, Samuel T Mcclugage, Peter T Kan, Karen K Hirschi, Jason E Fish, Joshua D Wythe

Faculty, Staff and Students Publications

Brain arteriovenous malformations are abnormal vascular structures in which an artery shunts high pressure blood directly to a vein without an intervening capillary bed. These lesions become highly remodeled over time and are prone to rupture. Historically, brain arteriovenous malformations have been challenging to treat, using primarily surgical approaches. Over the past few decades, the genetic causes of these malformations have been uncovered. These can be divided into (1) familial forms, such as loss of function mutations in TGF-β (BMP9/10) components in hereditary hemorrhagic telangiectasia, or (2) sporadic forms, resulting from somatic gain of function mutations in genes involved in …

Understanding Pediatric Bipolar Disorder Through The Investigation Of Clinical, Neuroanatomic, Neurophysiological And Neurocognitive Dimensions: A Pilot Study, Alessio Simonetti, Evelina Bernardi, Sherin Kurian, Antonio Restaino, Claudia Calderoni, Emanuela De Chiara, Francesca Bardi, Gabriele Sani, Jair C Soares, Kirti Saxena

Faculty, Staff and Student Publications

Background: Pathophysiological models of pediatric bipolar disorder (PBD) are lacking. Multimodal approaches may provide a comprehensive description of the complex relationship between the brain and behavior. Aim: To assess behavioral, neuropsychological, neurophysiological, and neuroanatomical alterations in youth with PBD.

Methods: Subjects with PBD (n = 23) and healthy controls (HCs, n = 23) underwent (a) clinical assessments encompassing the severity of psychiatric symptoms, (b) neuropsychological evaluation, (c) analyses of event-related potentials (related to the passive viewing of fearful, neutral, and happy faces during electroencephalography recording, and (d) cortical thickness and deep gray matter volume measurement using magnetic …

Investigating The In Vivo Effects Of Anti-Prion Protein Nanobodies On Prion Disease With Aav Vector, Jingjing Zhang, Mengfei Wang, Dan Wang, Xiangyi Zhang, Yue Ma, Els Pardon, Jan Steyaert, Romany Abskharon, Fei Wang, Jiyan Ma

Faculty, Staff and Student Publications

Prion diseases are fatal neurodegenerative disorders affecting humans and animals, and the central pathogenic event is the conversion of normal prion protein (PrPC) into the pathogenic PrPSc isoform. Previous studies have identified nanobodies that specifically recognize PrPC and inhibit the PrPC to PrPSc conversion in vitro. In this study, we investigated the potential for in vivo expression of anti-PrPC nanobodies and evaluated their impact on prion disease. The coding sequences of three nanobodies were packaged into recombinant adeno-associated virus (rAAV) and were administered via intracerebroventricular (ICV) injection in newborn mice. We found that the expression of these nanobodies remained robust …

Amyloid-Β Predominant Alzheimer’S Disease Neuropathologic Change, Gabor G. Kovacs, Yuriko Katsumata, Xian Wu, Khine Zin Aung, David Fardo, Shelley L. Forrest, Peter T. Nelson

Neurology Faculty Publications

Different subsets of Alzheimer’s disease neuropathologic change (ADNC), including the intriguing set of individuals with severe/widespread amyloid-β (Aβ) plaques but no/mild tau tangles [Aβ-predominant (AP)-ADNC], may have distinct genetic and clinical features. Analysing National Alzheimer’s Coordinating Center data, we stratified 1187 participants into AP-ADNC (n = 95), low Braak primary age-related tauopathy (PART; n = 185), typical-ADNC (n = 832) and high-Braak PART (n = 75). AP-ADNC differed in some clinical features and genetic polymorphisms in the APOE, SNX1, WNT3/MAPT and IGH genes. We conclude that AP-ADNC differs from classical ADNC with implications for in vivo studies.

The Global Epidemiology And Health Burden Of The Autism Spectrum: Findings From The Global Burden Of Disease Study 2021, Global Burden Of Disease Study 2021 Autism Spectrum Collaborators, Lourdes Bernadette Tanchanco, Angel Belle Dy

Ateneo School of Medicine and Public Health Publications

Background

High-quality estimates of the epidemiology of the autism spectrum and the health needs of autistic people are necessary for service planners and resource allocators. Here we present the global prevalence and health burden of autism spectrum disorder from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 following improvements to the epidemiological data and burden estimation methods.

Methods

For GBD 2021, a systematic literature review involving searches in PubMed, Embase, PsycINFO, the Global Health Data Exchange, and consultation with experts identified data on the epidemiology of autism spectrum disorder. Eligible data were used to estimate prevalence …

Synergistic Effects Of Plasma S100b And Mri Measures Of Cerebrovascular Disease On Cognition In Older Adults, Colleen A. Pappas, Christopher E. Bauer, Valentinos Zachariou, Timothy Justin Libecap, Beatriz Rodolpho, Tiffany L. Sudduth, Peter T. Nelson, Gregory Jicha, Anika M. S. Hartz, Xingfeng Shao, Danny J. J. Wang, Brian T. Gold

Neurology Faculty Publications

There is growing interest in studying vascular contributions to cognitive impairment and dementia (VCID) and developing biomarkers to identify at-risk individuals. A combination of biofluid and neuroimaging markers may better profile early stage VCID than individual measures. Here, we tested this possibility focusing on plasma levels of S100 calcium-binding protein B (S100B), which has been linked with blood– brain-barrier (BBB) integrity, and neuroimaging measures assessing BBB function (water exchange rate across the BBB (kw)) and cerebral small vessel disease (white matter hyperintensities (WMHs)). A total of 74 older adults without dementia had plasma samples collected and underwent cognitive assessment. A …

Defining Neonatal Status Epilepticus: A Scoping Review From The Ilaee Neonatal Task Force, Magda L Nunes, Elissa G Yozawitz, Courtney J Wusthoff, Renée A Shellhaas, Efraín Olivas-Peña, Jo M Wilmshurst, Ronit M Pressler, Chahnez C Triki, Hans Hartmann, Terrie Inder, Geraldine B Boylan, Kette Valente, Solomon L Moshe, Eli M Mizrahi, Nicholas S Abend

Faculty, Staff and Students Publications

Objective: To review the available literature concerning the definition of neonatal status epilepticus (SE) and/or seizure burden.

Methods: The International League Against Epilepsy Neonatal Task Force performed a scoping review of the definitions of neonatal SE. Following a systematic literature review, articles were screened and data were abstracted regarding: (1) article characteristics (author identification, publication year, journal name, digital object identifier, title, objective, and study design); (2) cohort characteristics (sample size, gestational age, seizure etiology); (3) definition of SE and/or seizure burden; and (4) the method used to identify and classify SE, including routine EEG (EEG), continuous EEG monitoring (cEEG), …

Magnesium Sulfate In The Management Of Acute Ischemic Stroke: A Review Of The Literature And Future Directions, Maximillian S Feygin, Alex Brenner, Omar Tanweer

Faculty, Staff and Students Publications

Background: The management of acute ischemic stroke (AIS) was revolutionized within the last 15 years with the introduction of mechanical thrombectomy (MT) to standard of care. Despite the success of mechanical thrombectomy (MT) in achieving high recanalization rates for large vessel occlusion, functional independence post-treatment remains suboptimal. The current limitations of MT prompt evaluation of the role of adjunctive pharmacologic neuroprotective therapies to prevent excitotoxicity, cellular apoptosis, and inflammation that cause irreversible neuronal damage during AIS. Magnesium (MgSO4) provides an attractive neuroprotectant profile, having many different effects, and is inexpensive, readily available, and has a long-established safety and tolerability profile …

Five-Year Outcomes Of Lenadogene Nolparvovec Gene Therapy In Leber Hereditary Optic Neuropathy, Patrick Yu-Wai-Man, Nancy Newman, Valérie Biousse, Valerio Carelli, Mark Moster, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo Sadun, Robert C Sergott, Rabih Hage, Simona Degli Esposti, Chiara La Morgia, Claudia Priglinger, Rustum Karanja, Magali Taiel, José-Alain Sahel

Department of Neurology Faculty Papers

IMPORTANCE: Limited studies have assessed the long-term benefit/risk of gene therapy for Leber hereditary optic neuropathy (LHON).

OBJECTIVE: To determine the safety and efficacy of lenadogene nolparvovec in patients with LHON due to the MT-ND4 gene variant for up to 5 years after administration.

DESIGN, SETTING, AND PARTICIPANTS: The RESCUE and REVERSE Long-Term Follow-up Study (RESTORE), conducted from 2018 to 2022, is the 5-year follow-up study of the 2 phase 3 clinical studies RESCUE (Efficacy Study of Lenadogene Nolparvovec for the Treatment of Vision Loss Up to 6 Months From Onset in LHON Due to the MT-ND4 Mutation) and REVERSE …

Evidence For Alpha-Synuclein Aggregation In Older Individuals With Hyposmia: A Cross-Sectional Study, Kenneth Marek, David S Russell, Luis Concha-Marambio, Seung Ho Choi, Danna Jennings, Michael C Brumm, Christopher S Coffey, Ethan Brown, John Seibyl, Matthew Stern, Claudio Soto, Andrew Siderowf

Faculty, Staff and Student Publications

Background: Synuclein pathology in neurodegenerative diseases, such as Parkinson's disease (PD) and Dementia with Lewy bodies (DLB), begins years before motor or cognitive symptoms arise. Alpha-Synuclein seed amplification assays (α-syn SAA) may detect aggregated synuclein before symptoms occur.

Methods: Data from the Parkinson Associated Risk Syndrome Study (PARS) have shown that individuals with hyposmia, without motor or cognitive symptoms, are enriched for dopamine transporter imaging (DAT) deficit and are at high risk to develop clinical parkinsonism or related synucleinopathies. α-syn aggregates in CSF were measured in 100 PARS participants using α-syn SAA.

Findings: CSF α-syn SAA was positive in 48% …

Plasma Proteomic Characterization Of Motoric Cognitive Risk And Mild Cognitive Impairment, Gabriela T Gomez, Sanish Sathyan, Jingsha Chen, Myriam Fornage, Pascal Schlosser, Zhongsheng Peng, Jenifer Cordon, Priya Palta, Kevin J Sullivan, Adrienne Tin, B Gwen Windham, Rebecca F Gottesman, Nir Barzilai, Sofiya Milman, Joe Verghese, Josef Coresh, Keenan A Walker

Faculty, Staff and Student Publications

INTRODUCTION: Motoric cognitive risk (MCR) is a pre-dementia syndrome characterized by mobility and cognitive dysfunction. This study conducted a proteome-wide study of MCR and compared the proteomic signatures of MCR to that of mild cognitive impairment (MCI).

METHODS: Participants were classified as MCR using a memory questionnaire and 4-meter walk. We measured 4877 plasma proteins collected during late-life and midlife. Multivariable logistic regression related each protein to late-life MCR/MCI. MCR-associated proteins were replicated internally at midlife and in an external cohort.

RESULTS: Proteome-wide analysis (n = 4076) identified 25 MCR-associated proteins. Eight of these proteins remained associated with late-life MCR …

Synaptic Alterations In Pyramidal Cells Following Genetic Manipulation Of Neuronal Excitability In Monkey Prefrontal Cortex, Guillermo Gonzalez-Burgos, Takeaki Miyamae, Yosuke Nishihata, Olga L Krimer, Kirsten Wade, Kenneth N Fish, Dominique Arion, Zhao-Lin Cai, Mingshan Xue, William R Stauffer, David A Lewis

Duncan NRI Faculty and Staff Publications

The primate dorsolateral prefrontal cortex (DLPFC) displays unique in vivo activity patterns, but how in vivo activity regulates DLPFC pyramidal neuron (PN) properties remains unclear. We assessed the effects of in vivo Kir2.1 overexpression, a genetic silencing tool, on synapses in monkey DLPFC PNs. We show for the first time that recombinant ion channel expression successfully modifies the excitability of primate cortex neurons, producing effects on synaptic properties apparently different from those in the rodent cortex.

Exploring Individual Differences In Amygdala-Mediated Memory Modulation, Martina K Hollearn, Joseph R Manns, Lou T Blanpain, Stephan B Hamann, Kelly Bijanki, Robert E Gross, Daniel L Drane, Justin M Campbell, Krista L Wahlstrom, Griffin F Light, Aydin Tasevac, Phillip Demarest, Peter Brunner, Jon T Willie, Cory S Inman

Faculty, Staff and Students Publications

Amygdala activation by emotional arousal during memory formation can prioritize events for long-term memory. Building upon our prior demonstration that brief electrical stimulation to the human amygdala reliably improved long-term recognition memory for images of neutral objects without eliciting an emotional response, our study aims to explore and describe individual differences and stimulation-related factors in amygdala-mediated memory modulation. Thirty-one patients undergoing intracranial monitoring for intractable epilepsy were shown neutral object images paired with direct amygdala stimulation during encoding with recognition memory tested immediately and one day later. Adding to our prior sample, we found an overall memory enhancement effect without …

Psychiatric Manifestations Of Encephalitis, Paris Bean, Ashley Heck, Ralph Habis, Swathi Sowmitran, Zoe Cartaina, Rajesh Gupta, John Probasco, Rodrigo Hasbun, Arun Venkatesan

Faculty, Staff and Student Publications

Objective: Encephalitis is a serious and potentially life-threatening condition of infectious or autoimmune cause. We aim to characterize the frequency and clinical spectrum of presenting psychiatric symptoms in encephalitis in order to inform earlier recognition and initiation of treatment.

Methods: This was a retrospective study of adult patients who met the 2013 International Encephalitis Consortium (IEC) and/or 2016 Graus criteria between February 2005 and February 2023. The study included two hospital systems in Houston, Texas, and Baltimore, Maryland and included a total of 642 patients. Psychiatric manifestations were grouped into five high-level categories: behavior, psychosis, mood, sleep disturbances, and catatonia. …

Protein Arginine Methyltransferases As Regulators Of Cellular Stress, Julia Zaccarelli-Magalhães, Cristiane Teresinha Citadin, Julia Langman, Drew James Smith, Luiz Henrique Matuguma, Hung Wen Lin, Mariana Sayuri Berto Udo

Faculty, Staff and Student Publications

Arginine modification can be a "switch" to regulate DNA transcription and a post-translational modification via methylation of a variety of cellular targets involved in signal transduction, gene transcription, DNA repair, and mRNA alterations. This consequently can turn downstream biological effectors "on" and "off". Arginine methylation is catalyzed by protein arginine methyltransferases (PRMTs 1-9) in both the nucleus and cytoplasm, and is thought to be involved in many disease processes. However, PRMTs have not been well-documented in the brain and their function as it relates to metabolism, circulation, functional learning and memory are understudied. In this review, we provide a comprehensive …

Comprehensive Assessment Reveals Numerous Clinical And Neurophysiological Differences Between Mecp2-Allelic Disorders, Davut Pehlivan, Chengjun Huang, Holly K Harris, Christine Coquery, Aditya Mahat, Mirjana Maletic-Savatic, Laurence Mignon, Sukru Aras, Daniel G Glaze, Charles S Layne, Leonardo Sahelijo, Huda Y Zoghbi, Matthew J Mcginley, Bernhard Suter

Faculty, Staff and Students Publications

OBJECTIVE: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved. The aim of this study was to identify biomarkers distinguishing RTT from MDS.

MATERIALS AND METHODS: We prospectively enrolled 11 MDS and 6 male RTT like (MRL) individuals for a panel of clinical and neurophysiological assessments over two visits, 8-10 months apart.

RESULTS: We identified numerous clinical and physiological …

Rescue Stenting For Failed Mechanical Thrombectomy In Acute Basilar Artery Occlusions: Analysis Of The Pc-Search Registry., Santiago Ortega-Gutierrez, Aaron Rodriguez-Calienes, Adam T Mierzwa, Milagros Galecio-Castillo, Mahmoud Dibas, Sami Al Kasab, Ashley Nelson, Ashutosh P Jadhav, Shashvat Desai, Gabor Toth, Anas Alrohimi, Mohamad Abdalkader, Piers Klein, Thanh N Nguyen, Hisham Salahuddin, Aditya Pandey, Sravanthi Koduri, Niraj Vora, Nameer Aladamat, Khaled Gharaibeh, Ehad Afreen, Syed Zaidi, Mouhammad Jumaa

Neuroscience Articles

BACKGROUND: We aimed to investigate whether rescue stenting (RS) following failed mechanical thrombectomy (MT) for acute basilar artery occlusion results in superior functional outcomes and enhanced safety compared with the natural history of failed MT.

METHODS: This retrospective cohort study utilized data from the Posterior Circulation Ischemic Stroke Evaluation: Analyzing Radiographic and Intra-Procedural Predictors for Mechanical Thrombectomy registry, encompassing 8 high-volume centers in the United States and covering the period from 2015 to 2021. Patients with basilar artery occlusion who experienced failed MT (modified Thrombolysis in Cerebral Infarction score of 0-2a after at least 1 attempt of clot retrieval) were …

Recanalization Outcomes And Procedural Complications In Patients With Acute Ischemic Stroke And Covid-19 Receiving Endovascular Treatment, João Pedro Marto, Davide Strambo, George Ntaios, Thanh N. Nguyen, Pawel Wrona, Simon Escalard, Simona Marcheselli, Ossama Yassin Mansour, Blanca Fuentes, Malgorzata Dorobek, Marta Nowakowska-Kotas, Elena Oana Terecoasa, Jonathan M. Coutinho, Mariana Carvalho-Dias, Patricia Calleja, João Sargento-Freitas, Ana Paiva-Nunes, Martin Šrámek, Priyank Khandelwal, Torcato Meira, Mohamad Abdalkader, Pascal Jabbour, Martin Kovář, Oscar Ayo-Martin, Patrik Michel, Roman Herzig, Anna Członkowksa, Jelle Demeestere, Raul G. Nogueira, Alexander Salerno, Susanne Wegener, Philipp Baumgartner, Carlo W. Cereda, Giovanni Bianco, Morin Beyeler, Marcel Arnold, Emmanuel Carrera, Paolo Machi, Valerian Altersberger, Leo Bonati, Henrik Gensicke, Manuel Bolognese, Nils Peters, Stephan Wetzel, Marta Magriço, João Nuno Ramos, Rita Machado, Carolina Maia, Egídio Machado, Patrícia Ferreira, Teresa Pinho-E-Melo, André Paula, Manuel Alberto Correia, Pedro Castro, Elsa Azevedo, Luís Albuquerque, José Nuno-Alves, Joana Ferreira-Pinto, Liliana Pereira, Miguel Rodrigues, André Araújo, Marta Rodrigues, Mariana Rocha, Ângelo Pereira-Fonseca, Luís Ribeiro, Ricardo Varela, Sofia Malheiro, Manuel Cappellari, Cecilia Zivelonghi, Giulia Sajeva, Andrea Zini, Mauro Gentile, Stefano Forlivesi, Ludovica Migliaccio, Maria Sessa, Sara La Gioia, Alessandro Pezzini, Davide Sangalli, Marialuisa Zedde, Rosario Pascarella, Carlo Ferrarese, Simone Beretta, Susanna Diamanti, Ghil Schwarz, Giovanni Frisullo, Pierre Seners, Candice Sabben, Michel Piotin, Benjamin Maier, Guillaume Charbonnier, Fabrice Vuillier, Loic Legris, Pauline Cuisenier, Francesca R. Vodret, Gaultier Marnat, Jean-Sebastien Liegey, Igor Sibon, Fabian Flottmann, Gabriel Broocks, Nils-Ole Gloyer, Ferdinand O. Bohmann, Jan Hendrik Schaefer, Christian H. Nolte, Heinrich Audebert, Eberhard Siebert, Marek Sykora, Wilfried Lang, Julia Ferrari, Lukas Mayer-Suess, Michael Knoflach, Elke-Ruth Gizewski, Jeffrey Stolp, Lotte J. Stolze, Paul J. Nederkoorn, Ido Van-Den-Wijngaard, Joke De Meris, Robin Lemmen, Sylvie De Raedt, Fenne Vandervorst, Matthieu Pierre Rutgers, Antoine Guilmot, Anne Dusart, Flavio Bellante, Fernando Ostos, Guillermo Gonzalez-Ortega, Paloma Martín-Jiménez, Sebastian García-Madrona, Antonio Cruz-Culebras, Rocio Vera, Maria-Consuelo Matute, María Alonso-De-Leciñana, Ricardo Rigual, Exuperio Díez-Tejedor, Soledad Pérez-Sánchez, Joan Montaner, Fernando Díaz-Otero, Natalia Perez-De-La-Ossa, Belén Flores-Pina, Lucia Muñoz-Narbona, Angel Chamorro, Alejandro Rodríguez-Vázquez, Arturo Renú, Francisco Hernandez-Fernandez, Tomas Segura, Herbert Tejada-Meza, Daniel Sagarra-Mur, Marta Serrano-Ponz, Thant Hlaing, Isaiah See, Robert Simister, David J. Werring, Espen Saxhaug Kristoffersen, Annika Nordanstig, Katarina Jood, Alexandros Rentzos, Libor Šimu Ne, Dagmar Krajíčková, Antonín Krajina, Robert Mikulík, Martina Cviková, Jan Vinklárek, David Školoudík, Martin Roubec, Eva Hurtikova, Rostislav Hrubý, Svatopluk Ostry, Ondrej Skoda, Marek Pernicka, Lubomír Kočí, Zuzana Eichlová, Martin Jíra, Michal Panský, Pavel Mencl, Hana Paloušková, Aleš Tomek, Petr Janský, Anna Olšerová, Roman Havlíček, Petr Malý, Lukáš Trakal, Jan Fiksa, Matěj Slovák, Michał Karlińsk, Maciej Nowak, Halina Sienkiewicz-Jarosz, Anna Bochynska, Tomasz Homa, Katarzyna Sawczynska, Agnieszka Slowik, Ewa Wlodarczyk, Marcin Wiącek, Izabella Tomaszewska-Lampart, Bartosz Sieczkowski, Halina Bartosik-Psujek, Marta Bilik, Anna Bandzarewicz, Justyna Zielińska-Turek, Krystian Obara, Paweł Urbanowski, Sławomir Budrewicz, Maciej Guziński, Milena Świtońska, Iwona Rutkowska, Paulina Sobieszak-Skura, Beata Łabuz-Roszak, Aleksander Dębiec, Jacek Staszewski, Adam Stępień, Jacek Zwiernik, Grzegorz Wasilewski, Cristina Tiu, Razvan-Alexandru Radu, Anca Negrila, Bogdan Dorobat, Cristina Panea, Vlad Tiu, Simona Petrescu, Atilla Özcan-Özdemir, Mostafa Mahmoud, Hussam El-Samahy, Hazem Abdelkhalek, Jasem Al-Hashel, Ismail Ibrahim Ismail, Athari Salmeen, Abdoreza Ghoreishi, Sergiu Sabetay, Hana Gross, Piers Klein, Kareem El Naamani, Stavropoula Tjoumakaris, Rawad Abbas, Ghada-A Mohamed, Alex Chebl, Jiangyong Min, Majesta Hovingh, Jenney-P Tsai, Muhib-A Khan, Krishna Nalleballe, Sanjeeva Onteddu, Hesham-E Masoud, Mina Michael, Navreet Kaur, Laith Maali, Michael Abraham, Ivo Bach, Melody Ong, Denis Babici, Ayaz-M Khawaja, Maryam Hakemi, Kumar Rajamani, Vanessa Cano-Nigenda, Antonio Arauz, Pablo Amaya, Natalia Llanos, Akemi Arango, Miguel A. Vences, José-Domingo Barrientos, Rayllene Caetano, Rodrigo Targa, Sergio Scollo, Patrick Yalung, Shashank Nagendra, Abhijit Gaikwad, Kwon-Duk Seo

Department of Neurosurgery Faculty Papers

No abstract provided.

Ligand Distances As Key Predictors Of Pathogenicity And Function In Nmda Receptors, Ludovica Montanucci, Tobias Brünger, Nisha Bhattarai, Christian M Boßelmann, Sukhan Kim, James P Allen, Jing Zhang, Chiara Klöckner, Ilona Krey, Piero Fariselli, Patrick May, Johannes R Lemke, Scott J Myers, Hongjie Yuan, Stephen F Traynelis, Dennis Lal

Faculty, Staff and Student Publications

Genetic variants in the genes GRIN1, GRIN2A, GRIN2B, and GRIN2D, which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic and neurodevelopmental disorders, including early onset epilepsy, developmental and epileptic encephalopathy, intellectual disability, and autism spectrum disorders. Missense variants in these genes can result in gain or loss of the NMDAR function, requiring opposite therapeutic treatments. Computational methods that predict pathogenicity and molecular functional effects of missense variants are therefore crucial for therapeutic applications. We assembled 223 missense variants from patients, 631 control variants from the general population, and 160 missense variants characterized by …

Robust Cluster Prediction Across Data Types Validates Association Of Sex And Therapy Response In Gbm, David L Gibbs, Gino Cioffi, Boris Aguilar, Kristin A Waite, Edward Pan, Jacob Mandel, Yoshie Umemura, Jingqin Luo, Joshua B Rubin, David Pot, Jill Barnholtz-Sloan

Faculty, Staff and Students Publications

Background: Previous studies have described sex-specific patient subtyping in glioblastoma. The cluster labels associated with these "legacy data" were used to train a predictive model capable of recapitulating this clustering in contemporary contexts.

Methods: We used robust ensemble machine learning to train a model using gene microarray data to perform multi-platform predictions including RNA-seq and potentially scRNA-seq.

Results: The engineered feature set was composed of many previously reported genes that are associated with patient prognosis. Interestingly, these well-known genes formed a predictive signature only for female patients, and the application of the predictive signature to male patients produced unexpected results. …