Digital Commons Network^™

Sporadic Creutzfeldt-Jakob Disease: A Case Report Of Rapidly Progressive Dementia, Diane Olski, Karissa Charles, Cristin Grant, Courtnee Harpine, Shannon Leonard, Sarah Puim

South Atlantic Division GME Research Day 2025

No abstract provided.

Core Stability Training And Sports Performance: A Bibliometric Mapping (2000–2025), Mimi Guo, Muhamad Hafiz Bin Ismail, Diyana Z. Abdul Ghani, Qi Liang, Yifei Gao

Baltic Journal of Health and Physical Activity

Background: Core stability training has become an important topic in sports science because of its proposed role in athletic performance enhancement, injury prevention, and neuromuscular control. This study aimed to map the knowledge structure, research trends, and collaboration patterns in this field. Materials and Methods: A bibliometric analysis was conducted using the Web of Science Core Collection. Articles and reviews published between 2000 and 2025 were screened according to predefined eligibility criteria. A total of 559 publications were included and analyzed using Bibliometrix and Biblioshiny. Results: Scientific output increased markedly over time, particularly after 2020. The USA and China were …

Effect Of Head Coverings On Directional Microphone Performance In Modern Hearing Aids: A Kemar-Based Laboratory Evaluation, Zahra Fekri, Mariam Mohamad, Ayasakanta Rout

Faculty Scholarship

Background/Objectives: Directional microphones are an established hearing aid technology for improving speech understanding in background noise. Although researchers have examined the influence of hair, spectacles, and earmold venting on directional performance, no systematic work has addressed head coverings, which people wear worldwide for cultural, religious, occupational, and personal reasons. This study determined whether a cotton head covering alters the directivity index (DI) of highest-level receiver-in-canal (RIC) hearing aids. Methods: A Knowles Electronics Manikin for Acoustic Research (KEMAR) was positioned in a double-walled, sound-treated booth, and DI was measured for omnidirectional and fixed directional microphone settings, with and without a two-layer …

Bile Acid Metabolites And Carotid Intima Media Thickness In The Chronic Kidney Disease In Children (Ckid) Study., Arthur M. Lee, Mark M. Mitsnefes, Jennifer Roem, Bradley A. Warady, Susan L. Furth, Michelle R. Denburg, Ckid Study Investigators

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Overview Of Glp-1ra Medications, Thomas A.F. Cordaro Pharmd, Sumaiya A. Difaa Pharmd, Amel J. Basil Pharmd

Transformative Medicine

GLP-1 is an incretin hormone that is naturally produced in the body that regulates blood glucose and appetite. The first GLP-1RA that was FDA approved, exenatide, in 2005, originated from the Gila monster and beaded lizard, via the discovery of the exendin-4 peptide. GLP-1RAs function by mimicking endogenous GLP-1 incretin hormone, leading to an increase in glucose-dependent insulin release from beta-cells of the pancreas, decrease in glucagon release, delayed gastric emptying, and satiety. Due to the benefits seen from initiating GLP-1RAs in the market, it sparked interest in numerous studies which proved that certain GLP-1RAs can provide cardiorenal protection. The …

Beyond Electromyography: A Systematic Review And Meta-Analysis Of Ai Enabled Wearables For Neuromuscular Assessment In Sports Medicine And Rehabilitation, Dariusz T. Skalski, Michał Spieszny, Łukasz Jaworski, Marcin Żak, Artur Terbalyan, Marlena Stawiarska, Wirginia Likus, Adam Maszczyk

Baltic Journal of Health and Physical Activity

Background: Conventional laboratory based EMG systems constrain neuromuscular assessment to controlled environments, limiting ecological validity in sport and rehabilitation. While AI enabled wearable sensor systems, including surface EMG (sEMG), high density EMG (HD-EMG), inertial measurement units (IMUs), and multimodal configurations, have expanded ambulatory monitoring capabilities, no prior meta-analysis has quantitatively synthesized their agreement with laboratory grade comparators or examined the moderating roles of sensor class and task domain. Objective: To determine the overall agreement between AI enabled wearable neuromuscular systems and laboratory benchmarks; to examine sensor class and task domain as moderators of measurement fidelity; to evaluate multimodal gain over …

Plasma Vgf As A Predictive Biomarker For Early Acute Kidney Injury In Critically Ill Elderly Patients: A Combined Clinical And Mendelian Randomization Study, Xianyang Guo, Yu Hao, Rujie Chenn, Benji Wang, Shengwei Jin

Saudi Medical Journal

Objectives: To assess whether VGF nerve growth factor inducible (VGF) can serve as a reliable predictor of acute kidney injury (AKI) among patients requiring intensive care.
Methods: We first conducted a Mendelian randomization (MR) analysis to explore the potential causal link between plasma VGF levels and AKI risk. Subsequently, 128 critically ill individuals admitted to our intensive care unit were prospectively enrolled. Within 24 hours of either hospital admission or clinical decline, both blood and urine specimens were obtained. We measured VGF concentrations in plasma and urine, along with plasma cystatin C (pCysC), plasma and urinary neutrophil gelatinase-associated lipocalin (NGAL), …

Advancing Impact: A National Approach To Knowledge Translation In Saudi Arabia-The Saudi National Institute Of Health Experience, Maha M. Aleid, Manar A. Alharbi, Amal N. Almadouj, Ahmad I. Alrawaji, Lamia A. Alhaqbani, Fars K. Alanazi

Saudi Medical Journal

Objectives: To present a reproducible national model for translating research findings into evidence-based clinical practice guidelines.
Methods: The Saudi National Institute of Health launched the initiative titled ``Transforming the Outcomes of Published Health Research into Medical Guidelines that Enhance Medical Practices to Improve the Quality of Human Health'' on February 3, 2025. The initiative aimed to identify and assess research outcomes published between January 1, 2020, and December 31, 2024 across 6 predefined thematic tracks relevant to the Saudi population. Eligible publications were collected within one month after the submission portal opened. Following closure of portal, all submissions were evaluated …

Strengthening The Evidence Base For Pediatric Cardiac Ct: Statistical And Technological Considerations, Faizan Faisal

Journal of the Saudi Heart Association

No abstract provided.

Medetomidine As A Fentanyl Adulterant: Pharmacology, Detection, Clinical Presentation, And Management, Kory S. London, Phil Durney, Brendan Hart, Ashish Thakrar, Dennis Goodstein, Alex J. Krotulski, Daniel Teixeira Da Silva, Joseph D’Orazio, Lara Weinstein, Jeanmarie Perrone, Michael J. Lynch

Division of Internal Medicine Faculty Papers & Presentations

Purpose of Review Medetomidine is a veterinary α2-adrenergic agonist that has been an adulterant of illicitly manufactured opioids since 2022. We review its pharmacology, detection, intoxication, withdrawal, and management, and assess why severe withdrawal has emerged in some regions but not others. Recent Findings Medetomidine has spread through North American drug markets yet evades most toxicology testing. Roughly two hundred times more potent than xylazine, with greater α2 selectivity and imidazoline-1 activity, it causes intoxication resembling other α2 agonists: sedation and bradycardia. The dominant clinical problem is withdrawal: autonomic dysregulation, intractable vomiting, and encephalopathy frequently requiring intensive care. Treatment requires …

Neuroimmune Phenotyping As The Next Frontier In Chronic Pain Medicine For Musculoskeletal Back Pain, Samer G. Salman, Rohan A. Phadke, Adithya Nair, Rahul Kumar, Arbaz Momin, Alireza Tavakkoli, James Rizkalla

Department of Neurosurgery Posters

Background: Chronic low back pain encompasses heterogeneous mechanical, neuropathic, nociplastic, and myofascial presentations that may reflect distinct neuroimmune mechanisms. We synthesized evidence linking these phenotypes to measurable biological features and clinically relevant treatment strategies.

Methods: We conducted a structured literature search of MEDLINE, Scopus, Web of Science, and the Cochrane Central Register of Controlled Trials for studies published from January 2005 through January 2025. Systematic reviews, randomized controlled trials, and mechanistic studies addressing neuroinflammation, glial activation, central sensitization, biomarkers, or imaging were organized according to four clinically relevant pain phenotypes and translational readiness.

Results: Neuroimmune findings differed across axial mechanical, …

Acute Liver Injury Likely Induced By Alpha Lipoic Acid Contained In Dietary Supplement, Simona Maksimyan, Jonathan V. Reyes, Kasim Kazbay, Farah K. Gazi

Journal of Community Hospital Internal Medicine Perspectives

The rise in use of herbal and dietary supplements, which are regulated as food rather than as drugs by the Food and Drug Association, poses the risk of unknown and potentially severe side effects. We describe the case of acute liver injury, characterized by significant elevation in AST and ALT, likely induced by the consumption of an over-the-counter supplement containing alpha lipoic acid (ALA). Our patient trusted in a “natural” alternative to Western medicine for management of neuropathy, which was ultimately detrimental to her liver. An immediate and sustained improvement in liver enzyme levels was noted with discontinuation of the …

The American Society Of Extracorporeal Technology Standards And Guidelines For Pediatric And Congenital Perfusion Practice: 2025 Update☆., Molly Elisabeth Oldeen, Carrie Whittaker Striker, Ronald Angona, Dafne Andrea Chianella, Chelsea Capone, Ashley B Walczak, Thomas Klein

Heart and Vascular Articles

Background: In 2019, the American Society of ExtraCorporeal Technology (AmSECT) approved the inaugural Standards and Guidelines for Pediatric and Congenital Perfusion Practice. These standards and guidelines were created with the intent of periodic revision to ensure continued alignment with evolving best practices. In 2023, an AmSECT subcommittee initiated this review in consideration of current literature and contemporary clinical practices.

Methods: The subcommittee, consisting of pediatric and congenital perfusionists, conducted a systematic literature review assessing each standard and guideline to determine if current evidence supports elevation of guidelines to standards, incorporation of new guidelines or standards, or whether existing standards and …

The Rise And Fall Of Lateral Electrical Surface Stimulation (Less) Through The Lens Of Srs Archives., Ali Rezazadeh Shirazi, Jay I. Kumar, Katie Dold, George H. Thompson, Andrew G. King, Richard M. Schwend, John P. Lubicky, Jay Shapiro, Behrooz A. Akbarnia, History Committee Of The Scoliosis Research Society

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: Lateral electrical surface stimulation (LESS), commercially known as the ScoliTron™, emerged in the late 1970s as a noninvasive alternative to bracing for adolescent idiopathic scoliosis. Early clinical reports generated considerable enthusiasm and adoption, but the technique was ultimately abandoned. This study examined the rise and fall of LESS through a combined analysis of the Scoliosis Research Society (SRS) archives and published literature, with the goal of understanding factors that influence the adoption, evaluation, and abandonment of innovation in scoliosis care.

METHODS: A structured historical review was conducted using archival materials from the Scoliosis Research Society (SRS), including meeting abstracts, …

Vomica And Respiratory Distress: A Complicated Lung Hydatid Cyst In A Child., Riccardo Guanà, Antonella Peduto, Maria Grazia Sacco Casamassima, Marco Denina, Marco Petraz, Cristina Giuliano, Giuseppe Farruggio, Lucia Gerbaudo, Fabrizio Gennari

Manuscripts, Articles, Book Chapters and Other Papers

Hydatid cyst, caused by Echinococcus infection, is the most common parasitic lung infection in children. Giant cysts are generally the result of a late diagnosis and are associated with a high risk of spontaneous rupture and life-threatening complications, including anaphylactic shock. We present the complex management of a large, complicated hydatid cyst of the lung in an 11-year-old boy in a nonendemic area. This case highlighted the specific work-up and surgical treatment of lung cysts as well as the differential diagnosis to consider when treating pulmonary masses or pneumonia.

Responding To Medetomidine In Philadelphia: Narrative Summary Of The Public Health Response To A New Psychoactive Substance, Tareva Warrick-Stone, Serge-Emile Simpson, Phil Durney, Dennis Goodstein, Catherine Abrams, Raymond Bobb, Kory London, Daniel Teixeira Da Silva

Division of Internal Medicine Faculty Papers & Presentations

BACKGROUND: Despite the emergence of medetomidine as the dominant adulterant in Philadelphia's illicit opioid supply, coordinated public health responses are limited or non-existent in the literature. Thus, we summarize a recent Summit in Philadelphia of outpatient and inpatient service providers who specialize in the care of persons who use drugs to discuss medetomidine response readiness and building ongoing community readiness for potential destabilizing drug supply changes.

PURPOSE: Describe a public health intervention that distributed information about practices across health care settings and mobilized key informants to identify and address barriers to treatment.

METHODS: Descriptive summary of the in-person Summit organized …

Retrieval Strategies For Embolized Left Atrial Appendage Closure Devices, Usama Sadiq, Muneeba Ali, Stacey Damito, Maxwell Ambrosino, Muhammad Sabri, Muhammad Ahmad Sadiq, Muhammad Hamza Sadiq, Richard Kovach, Sheena Rastogi, Muhammad Raza

Abington Jefferson Health Papers

BACKGROUND: Device embolization (DE) is a rare but potentially life-threatening complication of left atrial appendage occlusion (LAAO). As landmark trials broaden the eligible population for LAAO, operator preparedness for DE management becomes increasingly critical.

CASE SUMMARY: We present 4 cases of LAAO DE managed with distinct retrieval strategies: 1) open surgical retrieval with concurrent AtriClip ligation for an endothelialized left atrial device; 2) sequential transseptal then retrograde arterial snaring for intraprocedural migration to the abdominal aorta; 3) transseptal retrieval using a dedicated ONO system with cerebral embolic protection for partial left atrial dislodgment; and 4) retrograde large-bore arterial retrieval for …

Redo-Transcatheter Aortic Valve Replacement With Self-Expanding Valves: A U.S. Registry Analysis., Toby Rogers, Vinayak N Bapat, Stanley J Chetcuti, Harold L Dauerman, John K Forrest, Sachin S Goel, Kendra J Grubb, Wah Wah Htun, Rishi Puri, Michael J Reardon, Gilbert H L Tang, Amit N Vora, Steven J Yakubov, Ruth Eisenberg, Guilherme F Attizzani

Heart and Vascular Articles

BACKGROUND: Redo-transcatheter aortic valve replacement (TAVR) for failed transcatheter heart valves is expected to increase, but data on outcomes with self-expanding valves remain limited.

OBJECTIVES: The aims of this study were to evaluate procedural, clinical, and quality-of-life outcomes following redo-TAVR using self-expanding Evolut valves and to compare these outcomes with those among a contemporary native TAVR cohort.

METHODS: Outcomes after redo-TAVR with Evolut R, Evolut PRO, and Evolut PRO+ valves in the Society of Thoracic Surgeons/American College of Cardiology TVT (Transcatheter Valve Therapy) Registry were analyzed and compared with outcomes after native-valve TAVR using the same valve platform during the …

Mean Platelet Volume As A Marker Of Disease Severity In Hospitalized Children With Acute Bronchiolitis., Kedar Tilak, Trisha Sunderajan, Lewis Krata

Manuscripts, Articles, Book Chapters and Other Papers

Bronchiolitis is one of the most common lower respiratory tract infections affecting children less than two years of age and is a leading cause of hospitalization. Mean platelet volume (MPV), a readily available component of the complete blood count, has been investigated as an inflammatory biomarker in various conditions. Our present study evaluated the association between MPV values and the severity of acute bronchiolitis in hospitalized children.    Objective: The aim of this study was to determine the association between MPV, severity of respiratory distress, and need for oxygen support in hospitalized children under two years of age with acute bronchiolitis. …

Cells And Networks In Flux: Rethinking Ontogenesis And Pathogenesis, Mark L. Tykocinski

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Organ and tissue functions emerge from the coordinated activity of cell networks. Therapeutics that act on pathogenic cell networks, modulating their cellular interplay, follow naturally. Over several decades, our laboratory has developed a series of approaches for rewiring cell networks, culminating in a class of cell surface-directed signal converter proteins (SCPs) that do so by modulating juxtacrine and autocrine signaling in and among their nodal cells. A first such SCP has now produced encouraging clinical data for cancer immunotherapy. Yet, these early network-directed fusion proteins rest on a deliberately simplified picture: discrete end-cell types plugged into graphically tractable networks. That …

Nascent Adam17 Synthesis Potentiates Gpibα Cleavage In Resting And Stimulated Stored Platelets, Shayan Askari, Harriet Ghansah, Christopher D. Mansi, Timothy J. Stalker, Lawrence E. Goldfinger

Cardeza Foundation for Hematologic Research

Platelet concentrates stored at room temperature have a shelf life of 5 to 7 days. During storage, platelets undergo glycoprotein cleavage by metalloproteases, notably cleavage of glycoprotein Ibα (GPIbα) by a disintegrin and metalloprotease 17 (ADAM17), which leads to decreased posttransfusion reactivity and recovery. To investigate the putative roles of nascent synthesis of ADAM17 in GPIbα shedding and platelet function during room temperature platelet storage. Human platelets maintained in autologous plasma were treated with naked endonuclease-resistant ADAM17 or control short inhibitory RNA (siRNA) and monitored for molecular and cellular effects during storage. Platelet-specific Adam17-deleted mice were generated, and the dynamics …

Selective Loss Of Primary Cilia And Neurotrophic Signaling In G51d Α-Synuclein Mice Highlights A Common Pathway To Parkinson’S Disease, Yu-En Lin, Ebsy Jaimon, Youngdoo Kim, Annabeth Loftman, Aaran Vijayakumaran, Benjamin D W Belfort, Claire Y Chiang, Benjamin R Arenkiel, Huda Y Zoghbi, Suzanne R Pfeffer

Duncan NRI Faculty and Staff Publications

Parkinson's disease is characterized by dopaminergic neuron loss and accumulation of α-synuclein aggregates in the brain. G51D α-synuclein knock-in mice provide a genetically and clinically relevant model of disease, exhibiting early olfactory deficits, age-dependent motor impairment, and progressive phospho-α-synuclein accumulation. In multiple Parkinson's disease models, striatal cholinergic and parvalbumin interneurons, as well as astrocytes, lose primary cilia and the neurotrophic signaling needed to sustain dopaminergic neurons. We show here that G51D α-synuclein mice share these phenotypes. Phospho-Ser129 α-synuclein accumulation correlates with cilia loss in cholinergic interneurons but not in spiny projection neurons that accumulate higher phospho-α-synuclein levels. In the piriform …

Double-Port Totally Endoscopic Mitral Valve Replacement Through A Prosthesis-Sized Working Incision With Posterior Subvalvular Preservation, Cao Dang Khang, Tran Duc Quang, Phan Quang Thuan, Vuong Ngoc Minh, Pham Tran Viet Chuong, Nguyen Hoang Dinh

Journal of the Saudi Heart Association

Objective: To evaluate the feasibility and early outcomes of totally endoscopic non-robotic mitral valve replacement using a double-port DCT approach with posterior subvalvular preservation.

Methods: In this single-center retrospective observational study, 76 consecutive patients underwent totally endoscopic non-robotic mitral valve replacement between November 2023 and December 2025. The DCT approach was defined by exclusive endoscopic visualization, no rib spreading, a camera port and prosthesis-sized working incision placed in the same intercostal space, and thoracoscopic intracardiac instrumentation. Posterior ventricular-annular continuity was preserved whenever feasible by posterior leaflet preservation, native chordal preservation, or artificial chordal reimplantation after leaflet resection. Outcomes were reported …

Hemodynamic Characterization Of Cardiac Dysfunction After Traumatic Brain Injury Using A Controlled Cortical Impact Model In Male Rats, Preston So, Amit Iyengar, Noah Weingarten, Mrinal Patel, Jessica Dominic, Andrew Belec, Joyce Ho, Samuel Shin, Pavan Atluri

Division of Cardiology Faculty Papers

Traumatic brain injury (TBI) is associated with cardiovascular dysfunction that worsens clinical outcomes, yet the underlying mechanisms are poorly under stood. Clinical studies are limited by heterogeneity, highlighting the need for con trolled experimental models. Controlled cortical impact (CCI) provides precise control of injury severity, and invasive pressure- volume (PV) loop analysis allows detailed hemodynamic assessment. Adult male Wistar rats underwent sham op eration or mild or severe CCI- induced TBI. PV- loop assessment and transtho racic echocardiography were performed at 8 or 24 h after TBI or sham. Serum epinephrine (EPI) and norepinephrine (NE) were quantified by ELISA. At …

For Weight Loss: Why Do Glp-1 Agonists Work, And How Can We Make Them Work Better?, Charlise Giang, Jieyi Meng, Mahmoud Ali Mohammad, Zhenqi Liu, Xinle Wu, Yi Zhu

Children’s Nutrition Research Center Staff Publications

Glucagon-like peptide 1 receptor agonists (GLP-1RAs) have revolutionized the management of not only type 2 diabetes but also obesity. However, even with rapid therapeutic advances in GLP-1RAs, questions regarding the fundamental principles of GLP-1-mediated weight loss and the enhanced efficacy of next-generation therapies remain. In this comprehensive review article, we first examine the milestones of GLP-1, from its initial discovery and biological characterization to its successful translation into clinical therapy. Furthermore, this review highlights the latest clinical trial data, specifically HbA1c reduction, weight-loss efficacy, and safety profiles, while exploring current pipelines of major pharmaceutical companies. Additionally, we delineate the mechanistic …

Pre-Implementation Factors For Active Music Engagement (Ame): Barriers And Facilitators To Integrating An Evidence-Based Dyadic Intervention Into Pediatric Oncology Care., Kristin M. Story, Elizabeth Harman, Kristin Stegenga, Jelena Golubovic, Sheri L. Robb

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Pediatric cancer treatment is a difficult and distressing experience that often results in sustained, interrelated distress in young children and parents, and traumatic stress symptoms for some parents. Few evidence-based interventions address this dyadic distress. Active Music Engagement (AME) is a manualized, evidence-based music play intervention that significantly reduces distress in child/parent dyads and mitigates traumatic stress and improves well-being among highly distressed parents and those experiencing sociodemographic risk. Successfully integrating AME into standard care requires a systematic understanding of implementation factors. This study aimed to identify site-specific barriers and facilitators that influenced successful AME delivery during a recently …

Th17 Effector Cytokines Induce Shared And Distinct Microglial And Endothelial Cell Responses In A Mouse Model For Post-Streptococcal Encephalitis, Charlotte Wayne, Uğur Akcan, Travis Faust, Violeta Durán-Laforet, Danny Jamoul, Luca Bremner, Nicole Ampatey, Büşra Akcan, Sarah Ho, Bogoljub Ciric, Shannon Delaney, Wendy Vargas, Susan Swedo, Vilas Menon, Dorothy Schafer, Tyler Cutforth, Dritan Agalliu

Department of Neurology Faculty Papers

Group A Streptococcus (GAS) infections cause neuropsychiatric complications in children, but the mechanisms linking peripheral infection to brain dysfunction remain unclear. Using mouse genetics, single-cell RNA sequencing, and spatial transcriptomics, we show that GAS infections induce inflammatory transcriptional programs in microglia and brain endothelial cells (BECs), accompanied by loss of blood-brain barrier (BBB) gene expression in female mice. Spatial transcriptomic analyses reveal that GAS-responsive microglia localize near infiltrating CD4+ T cells. Several microglial chemokines induced in mice are elevated in sera from affected patients. Deletion of GM-CSF in CD4⁺ T cells partially reduces microglial chemokine gene expression, without restoring BBB …

Malt1 Protease Inhibition Restrains Glioblastoma Progression By Reversing Tumor-Associated Macrophage-Dependent Immunosuppression In Mice, Juliana Hofstätter Azambuja, Saigopalakrishna Yerneni, Lisa Maurer, Hannah Crentsil, Gabriela Debom, Linda Klei, Mei Smyers, Chaim Sneiderman, Kristina Schwab, Rajesh Acharya, Aivi Nguyen, Josie Emery, John Little, Jeffrey Meridew, Yijen Lin Wu, Prasanna Ekambaram, Dong Hu, Pete Gough, John Bertin, Ari Melnick, Gary Kohanbash, Riyue Bao, Peter Lucas, Linda Mcallister-Lucas

College of Life Sciences Faculty Papers

MALT1 protease is an intracellular signaling molecule that promotes tumor progression via cancer cell-intrinsic and cancer cell-extrinsic mechanisms. MALT1 has been mostly studied in lymphocytes, and little is known about its role in tumor-associated macrophages. We show that MALT1 is expressed in glioblastoma (GBM)-associated macrophages. Mechanistically, GBM tumor cells induce a MALT1-NF-κB signaling axis in macrophages, leading to enhanced macrophage migration and polarization toward an immunosuppressive ('M2-like') phenotype. Inactivation of MALT1 protease promotes transcriptional reprogramming that reduces migration and restores a macrophage anti-tumor 'M1-like' phenotype. Preclinical in vivo analysis shows that MALT1 inhibitor treatment results in immuno-reactivity of GBM-associated macrophages …

Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird

Duncan NRI Faculty and Staff Publications

Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome. A cluster of frameshift-causing C-terminal deletions (CTDs) removes ~100 amino acids and accounts for approximately 10% of RTT-causing mutations. Their pathogenicity is unexpected because this C-terminal domain is dispensable in mice. Analysis of pathogenic and benign human MECP2 variants reveals that some individuals with apparently typical CTDs do not develop Rett syndrome, confirming that C-terminal truncations are not intrinsically pathogenic. Using human sequence data and mouse models we show that pathogenicity results from a marked reduction in MeCP2 levels and depends on the presence of a proline proline …

Bibliometric Analysis Of The Top 100 Most Cited Publications From Saudi Arabia Reveals The Predominance Of Medical Fields, Mahmoud Kandeel, Abdulla Al-Taher

Saudi Medical Journal

Objectives: To explore the citation impact, journals, international collaborations, trends of research topics and gain more visibility for the Saudi contribution to the global scientific landscape. Methods: This bibliometric study analyzes the top 100 cited publications affiliated with Saudi Arabia in Scopus, from inception to January 2026. The extracted bibliometric indicators include total citation metrics, sources, collaboration maps, and co-occurrence networks of keywords and collaborations. Results: The results indicate a strong predominance for medicine and health sciences as the subjects of the most prolific and significant number of citations. A substantial proportion of the most cited papers originates from major …