Midlife Cognitive Testing In Africa: Validity Of The Harmonised Cognitive Assessment Protocol In The Kenya Life Panel Survey,
2025
Johns Hopkins University Bloomberg School of Public Health, USA
Midlife Cognitive Testing In Africa: Validity Of The Harmonised Cognitive Assessment Protocol In The Kenya Life Panel Survey, Alden Gross, Madeline Duhon, Eric Ochieng, Jean Ikanga, William Dow, Jinkook Lee, Michael Walker, Michelle Layvant, Anthony Ngugi, Joshua Ehrlich
Population Health, East Africa
Objectives: Cohort studies of ageing and cognitive decline typically do not begin fielding comprehensive cognitive assessments until older adulthood. However, for identifying preventable dementia risk factors, there is strong value in beginning at earlier ages. The case is especially compelling in sub-Saharan Africa, where the number of older individuals is expected to triple in the next three decades, and where risk factors may operate more intensively at earlier ages. This study reports on the adaptation and validity of the Harmonised Cognitive Assessment Protocol (HCAP) approach in the Kenya Life Panel Survey (KLPS), collected among middle-aged respondents.
Design: To evaluate the …
Effectiveness And Safety Of Abobotulinumtoxina In Pediatric Lower Limb Spasticity: A Phase Iv, Prospective, Observational, Multicenter Study,
2025
Gillette Children's Specialty Healthcare, St. Paul, MN
Effectiveness And Safety Of Abobotulinumtoxina In Pediatric Lower Limb Spasticity: A Phase Iv, Prospective, Observational, Multicenter Study, Mark E. Gormley, Edward Dabrowski, Mauricio R. Delgado, Ann Tilton, Asare Christian, Sarah Helen Evans, Anne-Sophie Grandoulier, Jumaah Goldberg
School of Medicine Faculty Publications
Aim: To assess the longitudinal attainment of patient-centered, function-related Goal Attainment Scaling Total (GAS T)-score after repeated abobotulinumtoxinA (AboBoNT-A) injections over a period of up to 30 months and up to 10 cycles. Method: In this prospective observational study, the investigators' clinical practices recruited patients aged 2 to 17 years with pediatric lower limb spasticity (PLLS). GAS T-scores were assessed for each injection, and goals could be redefined at each visit; scores of 50 reflected goal achievement. Adverse events were recorded. Results: Of 210 patients in the effectiveness population, 171 had cerebral palsy and 163 were previously treated with a …
High-Gamma And Beta Bursts In The Left Supramarginal Gyrus Can Differentiate Verbal Memory States And Performance,
2025
Thomas Jefferson University
High-Gamma And Beta Bursts In The Left Supramarginal Gyrus Can Differentiate Verbal Memory States And Performance, Shennan Aibel Weiss, Nicolás Sawczuk, Daniel Y. Rubinstein, Michael R Sperling, Katrina Wendel-Mitoraj, Päivi Österman, René Dumay-Roscher, Charles B. Mikell, Sima Mofakham, Kelly Coulehan, Petar M. Djuric, Diego Fernandez Slezak, Juan Esteban Kamienkowski
Department of Neurology Faculty Papers
INTRODUCTION: The left supramarginal gyrus (LSMG) contributes to attentional allocation for memory encoding and may also reflect memory state and performance. Given the roles of high-gamma and beta bursts in cognition and memory, this proof-of-concept study investigated whether these signals within the LSMG could classify memory state and performance.
METHODS: Using secondary data from 103 epilepsy patients undergoing presurgical iEEG evaluation, we analyzed 141 delayed verbal free recall experiments. Intracranial EEG (iEEG) data, recorded solely from LSMG electrode contacts, were processed to create two-dimensional (2D) tensors of convolved high-gamma (HG), and beta (15-40 Hz) burst activity. Convolutional neural networks (CNNs) …
Unusual Wave Morphologies In Ulnar Neuropathy With Marinacci Anastomosis: A Case Report,
2025
Marshall University
Unusual Wave Morphologies In Ulnar Neuropathy With Marinacci Anastomosis: A Case Report, Micaela Owens
Marshall Journal of Medicine
Marinacci anastomosis is a normal but rare anatomic variant of the median and ulnar nerves, consisting of an interconnection from the ulnar nerve to the median nerve within the proximal forearm. This is a case of Marinacci anastomosis occurring in the presence of both median and ulnar neuropathies, producing unusual waveform characteristics. Knowledge of normal anatomic variation can improve diagnostic accuracy in nerve conduction studies.
Cell Type-Specific Purifying Selection Of Synonymous Mitochondrial Dna Variation,
2025
The Texas Medical Center Library
Cell Type-Specific Purifying Selection Of Synonymous Mitochondrial Dna Variation, Caleb A Lareau, Patrick Maschmeyer, Yajie Yin, Jacob C Gutierrez, Ryan S Dhindsa, Anne-Sophie Gribling-Burrer, Sebastian Zielinski, Yu-Hsin Hsieh, Lena Nitsch, Veronika Dimitrova, Benan Nalbant, Frank A Buquicchio, Tsion Abay, Robert R Stickels, Jacob C Ulirsch, Patrick Yan, Fangyi Wang, Zhuang Miao, Katalin Sandor, Bence Daniel, Vincent Liu, Paul L Mendez, Petra Knaus, Manpreet Meyer, William J Greenleaf, Anshul Kundaje, Redmond P Smyth, Mathias Munschauer, Leif S Ludwig, Ansuman T Satpathy
Duncan NRI Faculty and Staff Publications
While somatic variants are well-characterized drivers of tumor evolution, their influence on cellular fitness in nonmalignant contexts remains understudied. We identified a mosaic synonymous variant (m.7076A > G) in the mitochondrial DNA (mtDNA)-encoded cytochrome c-oxidase subunit 1 (MT-CO1, p.Gly391=), present at homoplasmy in 47% of immune cells from a healthy donor. Single-cell multiomics revealed strong, lineage-specific selection against the m.7076G allele in CD8+ effector memory T cells, but not other T cell subsets, mirroring patterns of purifying selection of pathogenic mtDNA alleles. The limited anticodon diversity of mitochondrial tRNAs forces m.7076G translation to rely on wobble pairing, unlike the Watson-Crick-Franklin pairing …
Sleep Drive, Not Total Sleep Amount, Increases Seizure Risk,
2025
The Texas Medical Center Library
Sleep Drive, Not Total Sleep Amount, Increases Seizure Risk, Vishnu Anand Cuddapah, Cynthia T Hsu, Fernanda Valle Sirias, Yongjun Li, Hrishit M Shah, Christopher Saul, Samantha Killiany, Camilo Guevara, Joy Shon, Zhifeng Yue, Gabrielle L Gionet, Mary E Putt, Amita Sehgal
Duncan NRI Faculty and Staff Publications
Sleep loss has been associated with increased seizure risk since antiquity. Using automated video detection of spontaneous seizures in Drosophila epilepsy models, we show that seizures worsen only when sleep restriction raises homeostatic "sleep drive," not simply when total sleep amount falls. This is supported by the paradoxical finding that acute activation of sleep-promoting circuits worsens seizures, because it increases sleep drive without changing sleep amount. Sleep-promoting circuits become hyperactive after sleep loss and are associated with increased whole-brain activity. During sleep restriction, optogenetic inhibition of sleep-promoting circuits to reduce sleep drive protects against seizures. Downregulation of the 5HT1A serotonin …
"Star Sign" Of Subarachnoid Hemorrhage,
2025
Orlando Health
"Star Sign" Of Subarachnoid Hemorrhage, Shivani Ruf
Florida Journal of Emergency Medicine (FJEM)
A 60-year-old female who was brought to the emergency department after a syncopal episode. She was found to have a subarachnoid hemorrhage (SAH) from a ruptured anterior communicating artery aneurysm. Her CT showed the classic "star sign" of SAH.
The Sodium-Glutamate Antagonist Riluzole Improves Outcome After Acute Spinal Cord Injury: Results From The Riscis Randomised Controlled Trial Analysed Using A Global Statistical Analytic Technique,
2025
Thomas Jefferson University
The Sodium-Glutamate Antagonist Riluzole Improves Outcome After Acute Spinal Cord Injury: Results From The Riscis Randomised Controlled Trial Analysed Using A Global Statistical Analytic Technique, Michael G. Fehlings, Karlo M. Pedro, Mohammed Ali Alvi, Ali Moghaddamjou, James S. Harrop, Ralph Stanford, Jonathon Ball, Bizhan Aarabi, Paul M. Arnold, James D. Guest, Shekar N. Kurpad, James M. Schuster, Ahmad N. Nassr, Karl M. Schmitt, Jefferson R. Wilson, Darrel S. Brodke, Faiz U. Ahmad, Albert Yee, Wilson Z. Ray, Nathaniel P. Brooks, Jason Wilson, Diana S-L Chow, Elizabeth G. Toups, Kevin E. Thorpe, Jiaxin Huang, Peng Huang
Department of Neurosurgery Faculty Papers
BACKGROUND: Spinal cord injury (SCI) clinical trials typically rely on a single primary endpoint to assess drug efficacy. This strategy fails to adequately capture the full impact of treatment in heterogenous neurological conditions like SCI. A more patient-centric analysis requires assessment of neurological function, functional capacity, and quality of life, incorporating meaningful patient-reported outcomes. The global statistical test (GST) addresses this challenge using a unified statistical conclusion regarding the superiority of a treatment strategy over another by evaluating multiple trial endpoints simultaneously.
METHODS: The RISCIS trial (Safety and Efficacy of Riluzole in Acute Spinal Cord Injury Study) data was analysed …
Multi-Ancestry Genome-Wide Meta-Analysis Of 56,241 Individuals Identifies Known And Novel Cross-Population And Ancestry-Specific Associations As Novel Risk Loci For Alzheimer’S Disease,
2025
The Texas Medical Center Library
Multi-Ancestry Genome-Wide Meta-Analysis Of 56,241 Individuals Identifies Known And Novel Cross-Population And Ancestry-Specific Associations As Novel Risk Loci For Alzheimer’S Disease, Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L Hamilton-Nelson, Nicholas R Wheeler, Yi Zhao, John J Farrell, Michelle A Grunin, Yuk Yee Leung, Pavel P Kuksa, Donghe Li, Eder Lucio Da Fonseca, Jesse B Mez, Ellen L Palmer, Jagan Pillai, Richard M Sherva, Yeunjoo E Song, Xiaoling Zhang, Takeshi Ikeuchi, Taha Iqbal, Omkar Pathak, Otto Valladares, Dolly Reyes-Dumeyer, Amanda B Kuzma, Erin Abner, Larry D Adams, Perrie M Adams, Alyssa Aguirre, Marilyn S Albert, Roger L Albin, Mariet Allen, Lisa Alvarez, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Sanford Auerbach, Gayle Ayres, Clinton T Baldwin, Robert C Barber, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, Bruno A Benitez, David Bennett, John Bertelson, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James Brewer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Christopher S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A Chin, Helena C Chui, Jaeyoon Chung, Suzanne Craft, Paul K Crane, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Michael L Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L De Jager, Charles Decarli, John Detoledo, Malcolm Dick, Dennis W Dickson, Beth A Dombroski, Rachelle S Doody, Ranjan Duara, Nilüfer Ertekin-Taner, Denis A Evans, Kelley M Faber, Thomas J Fairchild, Kenneth B Fallon, David W Fardo, Martin R Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Robert P Friedland, Tatiana M Foroud, Matthew P Frosch, Brian Fulton-Howard, Douglas R Galasko, Adriana Gamboa, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Rodney C P Go, Alison M Goate, Thomas J Grabowski, Neill R Graff-Radford, Robert C Green, John H Growdon, Hakon Hakonarson, James Hall, Ronald L Hamilton, Oscar Harari, John Hardy, Lindy E Harrell, Elizabeth Head, Victor W Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S Honig, Ryan M Huebinger, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Linda S Hynan, Laura Ibanez, Gail P Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M Ilyas Kamboh, Anna M Karydas, Mindy J Katz, John S Kauwe, Jeffrey A Kaye, C Dirk Keene, Aisha Khaleeq, Masataka Kikuchi, Ronald Kim, Janice Knebl, Neil W Kowall, Joel H Kramer, Walter A Kukull, Frank M Laferla, James J Lah, Eric B Larson, Alan Lerner, James B Leverenz, Allan I Levey, Andrew P Lieberman, Richard B Lipton, Mark Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Douglas Mains, Flanagan E Margaret, Daniel C Marson, Eden Rr Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C Mccormick, Susan M Mccurry, Andrew N Mcdavid, Stefan Mcdonough, Ann C Mckee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, Edwin S Monuki, John C Morris, Shubhabrata Mukherjee, Amanda J Myers, Trung Nguyen, Thomas Obisesan, Sid O'Bryant, John M Olichney, Marcia Ory, Raymond Palmer, Joseph E Parisi, Henry L Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C Petersen, Helen Petrovitch, Aimee Pierce, Marsha Polk, Wayne W Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Joan S Reisch, John M Ringman, Erik D Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Donald R Royall, Marwan Sabbagh, A Dessa Sadovnick, Mark A Sager, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Susan H Slifer, Scott Small, Amanda G Smith, Janet P Smith, Joshua A Sonnen, Salvatore Spina, Peter St George-Hyslop, Takiyah D Starks, Robert A Stern, Alan B Stevens, Stephen M Strittmatter, David Sultzer, Russell H Swerdlow, Rudolph E Tanzi, Jeffrey L Tilson, John Q Trojanowski, Juan C Troncoso, Magda Tsolaki, Debby W Tsuang, Vivianna M Van Deerlin, Linda J Van Eldik, Jeffery M Vance, Badri N Vardarajan, Robert Vassar, Harry V Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Patrice L Whitehead, Ellen M Wijsman, Kirk C Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S Wingo, Thomas Wisniewski, Randall L Woltjer, Martin Woon, Clinton B Wright, Chuang-Kuo Wu, Steven G Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W Kunkle, William S Bush, Akinori Miyashita, Goldie S Byrd, Li-San Wang, Lindsay A Farrer, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Gyungah R Jun, Christiane Reitz, Adam C Naj, Alzheimer’S Disease Genetics Consortium (Adgc)
Faculty, Staff and Students Publications
Background: Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6728 African American, 8899 Hispanic (HIS), and 3232 East Asian individuals, performing within ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis.
Results: We identify 13 loci with cross-population associations including known loci at/near CR1, …
Neonatal Seizures: Advances In Diagnosis And Management,
2025
The Texas Medical Center Library
Neonatal Seizures: Advances In Diagnosis And Management, Elissa G Yozawitz, Ronit M Pressler, Eli M Mizrahi
Faculty, Staff and Students Publications
The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of neonatal seizures. PLAIN LANGUAGE SUMMARY: Neonatal seizures, occurring within the first 4 weeks of life, present unique challenges due to the immature neonatal brain. The International League Against Epilepsy (ILAE) Neonatal Task Force revolutionized diagnosis and management through classification, syndrome definition, and treatment guidelines. Despite advancements, challenges persist, including accurate diagnosis and limited evidence-based treatment …
Parietal Cortex Is Recruited By Frontal And Cingulate Areas To Support Action Monitoring And Updating During Stopping,
2025
The Texas Medical Center Library
Parietal Cortex Is Recruited By Frontal And Cingulate Areas To Support Action Monitoring And Updating During Stopping, Jung Uk Kang, Layth Mattar, José Vergara, Victoria E Gobo, Hernan G Rey, Sarah R Heilbronner, Andrew J Watrous, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli
Faculty, Staff and Students Publications
Recent evidence indicates that the intraparietal sulcus (IPS) may play a causal role in action stopping, potentially representing a novel neuromodulation target for inhibitory control dysfunctions. Here, we leverage intracranial recordings in human subjects to establish the timing and directionality of information flow between IPS and prefrontal and cingulate regions during action stopping. Prior to successful inhibition, information flows primarily from the inferior frontal gyrus (IFG), a critical inhibitory control node, to IPS. In contrast, during stopping errors the communication between IPS and IFG is lacking, and IPS is engaged by posterior cingulate cortex, an area outside of the classical …
Brivaracetam Effectiveness And Patient-Reported Outcomes In Clinical Practice: Data From A 12-Month Prospective, Observational Study In The United States.,
2025
Thomas Jefferson University
Brivaracetam Effectiveness And Patient-Reported Outcomes In Clinical Practice: Data From A 12-Month Prospective, Observational Study In The United States., Hina Dave, Michael R. Sperling, Hamada Hamid Altalib, Heidi Henninger, Roger J. Porter, Michael Gelfand, Prashant Dongre, Sami Elmoufti, Melinda S. Martin, Anne-Liv Schulz, Jacqueline A. French
Department of Neurology Faculty Papers
OBJECTIVE: Evaluate real-world effectiveness, patient-reported outcomes (PROs), and safety/tolerability of brivaracetam in patients (≥16 years) with focal-onset seizures currently receiving ≥ 1 antiseizure medication (ASM), and with historical or current use of levetiracetam, lamotrigine, oxcarbazepine, and/or carbamazepine.
METHODS: EP0088 was a 12-month, prospective, observational study of brivaracetam in a clinical practice setting in the US. Primary study outcome was brivaracetam retention at 12 months after brivaracetam initiation. Effect of brivaracetam on patients' perceptions of their health was assessed using Patient-Reported Outcomes Measurement Information System (PROMIS) short forms and Seizure-Related Disability Assessment Scale (SERDAS). Safety outcomes included incidence of treatment-emergent adverse …
The Minnesota Conference Proposed Guidelines For Education And Training In Clinical Neuropsychology,
2025
The Texas Medical Center Library
The Minnesota Conference Proposed Guidelines For Education And Training In Clinical Neuropsychology, Anthony Y Stringer, Kathleen Fuchs, Veronica Bordes Edgar, Thomas Bristow, Stephen Correia, Suzanne Penna, Anny Reyes, Douglas M Whiteside, Cady Block, Douglas Bodin, Sakina Butt, Matthew Calamia, Nyaz Didehbani, Peter Dodzik, Vonetta M Dotson, Mary Fernandes, Krista Freece, Richard Fuller, Glen Getz, Lana Harder, Farzin Irani, Laura Janzen, Brick Johnstone, Erin Kaseda, Megan Kramer, Cynthia Kubu, Jose Lafosse, Jennifer Lee-Darocha, Beatriz Macdonald, Adriana Macias Strutt, Michelle Madore, Will Mcbride, Luis Daniel Medina, Grace Mucci, Kritika Nayar, June Paltzer, Courtney Ray, Rebecca Ready, Taylor Rose Schmitt, Beth Rush, Shifali Singh, Scott Sperling, Lisa Stanford, William Stiers, Nikki Stricker, Allen Thornton, Ryan Van Patten, Susan Vandermorris, Kris Verroulx, Jaime Wilson, Ingram Wright, Andrea Zartman, Robert Bilder, Daryl Fujii, Amy Heffelfinger, Thomas Parsons, Antonio E Puente, Celiane Rey-Casserly, Brad Roper, Maureen Schmitter-Edgecombe
Faculty, Staff and Students Publications
Objective: The Houston Conference Guidelines (Hannay et al., 1998) provided an initial framework for North American neuropsychology training that served the specialty well for several decades. Subsequent advances in technology, increased diversity of the U.S. and Canadian populations, and the adoption of competency-based training models within Health Service Psychology have created a need to update neuropsychology training guidelines. Therefore, in 2022, the Minnesota Conference to Update Education and Training Guidelines in Clinical Neuropsychology began a two-year drafting process leading to the currently proposed update.
Method: A Steering Committee worked with content experts, consultants, and delegates representing North American neuropsychological organizations …
Pan-Cancer Copy Number Analysis Identifies Optimized Size Thresholds And Co-Occurrence Models For Individualized Risk Stratification,
2025
The Texas Medical Center Library
Pan-Cancer Copy Number Analysis Identifies Optimized Size Thresholds And Co-Occurrence Models For Individualized Risk Stratification, Minh P Nguyen, William C Chen, Kanish Mirchia, Abrar Choudhury, Naomi Zakimi, Vijay Nitturi, Tiemo J Klisch, Stephen T Magill, Calixto-Hope G Lucas, Akash J Patel, David R Raleigh
Faculty, Staff and Students Publications
Chromosome instability leading to aneuploidy and accumulation of copy number gains or losses is a hallmark of cancer. Copy number alteration (CNA) signatures are increasingly used for cancer risk stratification, but size thresholds for defining CNAs across cancers are variable and the biological and clinical implications of CNA size heterogeneity and co-occurrence are incompletely understood. Here we analyze CNA and clinical data from 691 meningiomas and 10,383 tumors from The Cancer Genome Atlas to develop cancer- and chromosome-specific size-dependent CNA and CNA co-occurrence models to predict tumor control and overall survival. Our results shed light on technical considerations for biomarker …
Oxytocin Reduces Asymmetries In Dominance Relationships Between Pairs Of Captive Female Lions,
2025
The Texas Medical Center Library
Oxytocin Reduces Asymmetries In Dominance Relationships Between Pairs Of Captive Female Lions, Jessica C Burkhart, Abby Guthmann, Evianne M Dubois, Sarah R Heilbronner, Craig Packer
Faculty, Staff and Students Publications
Free-ranging female African lions maintain symmetrical social relationships by respecting each other's "ownership" of valuable food items rather than by supplanting subordinates according to well-defined dominance hierarchies. However, captivity often skews relationships in captive carnivores, hence we investigated whether captive female lions demonstrate obvious dominance relationships. Oxytocin has been shown to elicit context-specific impacts that equalize dominant subordinate relationships, thus we hypothesized that oxytocin would reduce any asymmetries found between dominants and subordinates in captive lions. We designed two experimental protocols for investigating pairwise relationships. We first identified dominant individuals by performing neutral trials that allowed each female equal opportunity …
C-Terminal Frameshift Variants In Gpkow Are Associated With A Multisystemic X-Linked Disorder,
2025
The Texas Medical Center Library
C-Terminal Frameshift Variants In Gpkow Are Associated With A Multisystemic X-Linked Disorder, Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Renee Carroll, Mathilde Nizon, Sophie Rondeau, Madeleine Joubert, Silvestre Cuinat, Wallid Deb, Fernanda Valle Sirias, Monika Weisz-Hubshman, Shamika Ketkar, Urszula Polak, Alyssa A Tran, Debra Kearney, Neil A Hanchard, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Brendan H Lee, Shinya Yamamoto, Keren Machol
Duncan NRI Faculty and Staff Publications
Purpose: GPKOW, a gene on the X-chromosome, encodes a nuclear RNA-binding protein important in messenger RNA (mRNA) processing as a spliceosome subunit. This work aims to establish GPKOW as a disease-associated gene.
Methods: We describe 3 males from 2 unrelated families with hemizygous frameshift variants affecting the last exon of GPKOW p.(Arg441SerfsTer30) and p.(Ser444GlufsTer28). The effect of p.(Ser444GlufsTer28) on gene expression was evaluated in patient's fibroblasts. In vivo studies in Drosophila melanogaster targeting the sole GPKOW fly ortholog, CG10324 (Gpkow) were performed.
Results: Clinical presentations included intrauterine growth restriction, microcephaly/microencephaly, and eye, brain, skin, and skeletal abnormalities. Heterozygote females presented …
Exploring The Clinical Utility Of Neurofilament Light Chain Assays In Multiple Sclerosis Management.,
2025
OhioHealth
Exploring The Clinical Utility Of Neurofilament Light Chain Assays In Multiple Sclerosis Management., Amit Bar-Or, Jacqueline Nicholas, Jenny Feng, Francesca Sorrell, Mark Cascione
Neuroscience Articles
Multiple sclerosis (MS) is a chronic neuroinflammatory and neurodegenerative disease that affects nearly 1 million adults in the United States. Owing to its unpredictable disease course, diverse phenotypes, and an array of currently available disease-modifying therapies, a personalized approach to MS management is required. There is an unmet need to identify, validate, and incorporate prognostic, monitoring, and predictive biomarkers into routine clinical practice for MS. A mounting body of evidence supports the use of blood biomarkers, such as neurofilament light chain (NfL), in predicting disease activity and monitoring treatment response. Previous hurdles for the widespread use of NfL in the …
Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory,
2025
Thomas Jefferson University
Individualized Functional And Structural Language Lateralities In Temporal Lobe Epilepsy And Their Impact On Memory, Ankeeta Ankeeta, Qirui Zhang, Sam Sharifzadeh Javidi, Shilpi Modi, Michael R. Sperling, Joseph I. Tracy
Department of Neurology Faculty Papers
The basis and impact of functional asymmetries in the brain, particularly language lateralization, are not fully understood, and the relationship between functional and structural asymmetries remains largely untested. This study investigated the degree to which asymmetries in hemispheric language laterality are concordant with asymmetries in gray matter (GM) structure and whether the hemispheric organization of memory is influenced by functional language asymmetries. Structural and functional MR data was acquired from 261 individuals, including those with unilateral temporal lobe epilepsy (LTLE = 96, RTLE = 69) and matched with healthy participants (HPs = 96). Functional language laterality indices (LIs) were calculated …
Multiple Subcortical And Subcortico-Cortico Dynamic Network Reconfigurations Characterize Focal-To-Bilateral Tonic-Clonic Seizures,
2025
Thomas Jefferson University
Multiple Subcortical And Subcortico-Cortico Dynamic Network Reconfigurations Characterize Focal-To-Bilateral Tonic-Clonic Seizures, Shilpi Modi, A. Ankeeta, Walter Hinds, Michael R. Sperling, Xiaosong He, Joseph I. Tracy
Department of Neurology Faculty Papers
Temporal lobe epilepsy (TLE) is the most common focal epilepsy, with focal to bilateral tonic-clonic seizures (FBTCS+) a more severe form of the disorder. Evidence has underscored the critical role of the thalamus, mesial temporal region, basal ganglia and cerebellum, along with the cortex, in the propagation, termination, and modulation of seizure activity. We examined time variant patterns of interaction within and between 7 cortical and 4 subcortical systems in 55 healthy controls and 56 patients with TLE (n = 40 with FBTCS+ and 15 without), isolating those patterns most distinctive of FBTCS+ utilizing tools from dynamic network neuroscience on …
Definition And Classification Of Dystonia,
2025
The Texas Medical Center Library
Definition And Classification Of Dystonia, Alberto Albanese, Kailash P Bhatia, Victor S C Fung, Mark Hallett, Joseph Jankovic, Christine Klein, Joachim K Krauss, Anthony E Lang, Jonathan W Mink, Sanjay Pandey, Jan K Teller, Marina A J Tijssen, Marie Vidailhet, H A Jinnah
Faculty, Staff and Students Publications
Dystonia is a movement disorder with varied clinical features and diverse etiologies. Here we present a revision of the 2013 consensus definition and classification of dystonia in light of subsequent publications and experience with its application during the last decade. A panel of movement disorder specialists with expertise in dystonia reviewed the original document and proposed some revision. There was broad consensus to retain the definition of dystonia with only minor clarifications to the wording. Dystonia is defined as a movement disorder characterized by sustained or intermittent abnormal movements, postures, or both. Dystonic movements and postures are typically patterned and …
