Digital Commons Network^™

Bi-Allelic Variants In Neuronal Adhesion Molecule Astrotactin 1 Gene Astn1 Cause Diverse Neurodevelopmental Disorders, Jesse M Levine, Daniel G Calame, Riccardo Sangermano, Haowei Du, Ahmed Saad, Jasmin Lisfeld, Tatjana Bierhals, Jonas Denecke, Eyyup Uctepe, Merve Yoldas Celik, Ahmet Yesilyurt, Hilal Yildiz Er, Elif Yilmaz Gulec, Aziza Mushiba, Naif Almontashiri, Pawel Gawlinski, Wojciech Wiszniewski, Ender Karaca, Lama Alabdi, Davut Pehlivan, Dana Marafi, Maha S Zaki, Fowzan S Alkuraya, Joseph G Gleeson, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Kinga M Bujakowska, James R Lupski

Faculty, Staff and Students Publications

ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mouse models, disruption of Astn1 results in neuronal migration deficits, a mild reduction in cerebellar volume, and balance and coordination deficits. In humans, bi-allelic ASTN1 variants have been identified in nine individuals with neurodevelopmental disorders (NDDs) with or without brain malformations. ASTN1 additionally interacts with astrotactin 2 (ASTN2) to implement neuronal migration; ASTN2 deletions associate with NDDs with reduced penetrance. Here, we describe eighteen individuals with NDDs …

Ecologic Factors Contributing To West Nile Virus Hyperendemicity In Central South Carolina: An Integrated Vector–Human–Environmental Study, Elba S. Fridriksson, Ahayla Muraleedharan, Kyndall C. Dye-Braumuller, Madeleine M. Meyer, Kia Zellars, Hiuxuan Li, Melissa S. Nolan Ph.D., Mph

Faculty Publications

West Nile virus (WNV) is an endemic arboviral infection in the United States that has undergone phyloge-netic evolution since its introduction 25 years ago. An integrated vector–human–pathogen study was conducted in the summer of 2023 to unearth contemporary Culex quinquefasciatus habitat patterns and human transmission spillover foci in South Carolina, a state with historically little WNV data. A serosurvey revealed WNV seroprevalence 10 times the national average (22% versus 2%, respectively), with unusual epidemiologic risk factors. Female Culex quinquefas-ciatus WNV positivity was low (2.7%), with viral phylogenetics 100% homologous to the WN02 clade. Mosquito vectors clustered in affluent urban neighborhoods …

Intense Solar Radiation Constrains Plant Species Richness In Global Grasslands, Marie Spohn, Carlos Alberto Arnillas, Jonathan D. Bakker, Elizabeth T. Borer, Kari Anne Bråthen, Marc W. Cadotte, Erika I. Hersch-Green, Et Al.

Michigan Tech Publications

The search for predictors of plant diversity has challenged scientists for decades. Here we identify intense photosynthetically active radiation (PAR) as a major factor constraining plant species richness in global grasslands. We show that the strength of the negative relationship between species richness and PAR increases with increasing elevation and that species richness is more strongly correlated with intense PAR than with UV-B radiation, climate variables, and atmospheric nitrogen deposition. In addition to species richness, plant biomass was also negatively correlated with PAR at higher elevations, indicating that intense PAR also constrains plant biomass in montane grasslands. Furthermore, we show …

Green Technology: A Systematic Review Of Ai And Iot Solutions For A Sustainable Future, Nesma Abd El-Mawla, Mohamed A. Berbar, Nawal A. El-Fishawy, Mohamed A. El-Rashidy, Mahmoud Badawy

Mansoura Engineering Journal

Green technology offers a solution to the pressing environmental crisis. It can change the structure and generation of waste so as not to harm the earth, and people can become environmentally friendly. To address complex environmental challenges like climate change and pollution, innovative Artificial Intelligence (A.I.) and Internet of Things (IoT) solutions are essential. These technologies can help optimize resource use, reduce waste, and promote sustainable development. However, it's crucial to balance economic growth, social equity, and environmental protection when implementing green technologies. This survey paper systematically examines the landscape of Green Technology, focusing on its pivotal components: Measures of …

Transient Protein Structure Guides Surface Diffusion Pathways For Electron Transport In Membrane Supercomplexes, Chun Kit Chan, Jonathan Nguyen, Corey F Hryc, Chitrak Gupta, Kevin Redding, William Dowhan, Matthew L Baker, Alberto Perez, Eugenia Mileykovskaya, Abhishek Singharoy

Faculty, Staff and Student Publications

The exact biological role of mitochondrial supercomplexes remains debated, particularly their role in guiding redox proteins across membranes during energy conversion. We integrate multiscale modeling and single particle cryo-electron microscopy (cryo-EM) to examine electron transfer in mitochondrial supercomplexes composed of complexes III and IV (CIII and CIV). Using bioinformatic and entropy-based methods, we generated structural ensembles capturing conformations of CIII's disordered QCR6 hinge within the yeast CIII2CIV2 supercomplex. Molecular and Brownian Dynamics simulations reveal that these negatively charged hinge states electrostatically couple with redox proteins, promoting their binding and directional diffusion across the membrane on millisecond timescales. Rather than hindering …

The Setd2 L1609p Mutation Found In Leukemia Disrupts Methyltransferase Activity And Reduces Histone H3k36 Trimethylation, Christina Michail, Jérémy Berthelet, Ariel E Mechaly, Linh-Chi Bui, Haopeng Yang, Duo Cai, Amira Al Mahi, Aowei Xie, Valeria Bisio, Valentina Sirri, Jean-Marie Dupret, Fabien Guidez, Ximing Xu, Nicolas Joly, Leslie Regad, Mireille Viguier, Frédérique Deshayes, Nicolas Dulphy, Michael R Green, Ahmed Haouz, Fernando Rodrigues Lima

Faculty, Staff and Student Publications

SETD2 is the primary methyltransferase responsible for generating H3K36me3, an epigenetic mark that is essential for transcriptional regulation and chromatin integrity. SETD2 mutations are frequently observed in various cancers and tend to cluster within its catalytic SET domain. Despite the clinical relevance of SETD2 missense mutations in cancer, their biochemical and structural consequences remain insufficiently characterized. Here, we present the enzymatic and structural characterization of the SETD2 L1609P mutant enzyme identified in leukemia. The L1609 residue is located in the SET domain within a conserved hydrophobic pocket that is involved in substrate H3K36 recognition. Interestingly, site-directed mutagenesis of residues within …

Zingiber Officinale-Mediated Zinc Oxide Nanoparticles: Antimicrobial Activity Against Multidrug-Resistant Bacteria, Maureen Bakor Tabe, Ovgu Isbilen, Jennifer N Walker, Ender Cinar

Faculty, Staff and Student Publications

Background: The fight against infectious diseases has transformed over the past century with the emergence of multidrug-resistant bacteria, where pathogens that exhibit resistance to multiple antibiotic classes leading to significant challenges to modern medicine. Zingiber officinale is well-documented to exhibit diverse biological activities, including strong antioxidant, antimicrobial, and anti-neuroinflammatory effects. Zinc oxide nanoparticles can be synthesized cost-effectively and are widely utilized in biomedical applications, including their use as anticancer agents and drug-delivery systems, as well as for their intrinsic antibacterial and anti-inflammatory properties. In this study, we aimed to take a combinatorial approach to investigate the antimicrobial effects of Z. …

Identification Of A Cytokine Biomarker For Prognostic Modeling Of Breast Cancer-Related Lymphedema, Alison J Wu, Neil Lin, Jie Su, Cherie Lin, Madison-Shira Hossack, Wei Shi, Farnoosh Abbas-Aghababazadeh, Wei Xu, Benjamin Haibe-Kains, Simona F Shaitelman, Melissa B Aldrich, Fei-Fei Liu, Jennifer Y Y Kwan

Faculty, Staff and Student Publications

Lymphedema is a chronic complication of breast cancer treatment, and early intervention is crucial to reduce morbidity. This study evaluated the role of blood-based cytokine biomarkers in the prognostication of breast cancer-related lymphedema (BCRL) to improve risk prediction. A secondary analysis of inflammatory biomarkers for BCRL was performed using a previously published cohort of 147 breast cancer patients who had undergone serum cytokine profiling during their treatment at the Princess Margaret Cancer Centre from 2010-2014. Prognostic cytokine variables for lymphedema were selected by regression analysis and independence from known clinical risk factors. Regression-based modeling was employed to integrate prognostic variables …

Endothelial Oncogenic Kras Mutation Drives The Dynamics Of Microglia And Macrophages In Brain Arteriovenous Malformation, Hyejin Park, Jung-Eun Park, Bridger H Freeman, Bosco Seong Kyu Yang, Shun-Ming Ting, Alexander K Suh, Jude Pj Savarraj, Shuning Huang, Jakob Körbelin, Huimahn Alex Choi, Sean P Marrelli, Jaroslaw Aronowski, Peng Roc Chen, Eunhee Kim, Eun S Park

Faculty, Staff and Student Publications

Mutation of KRAS in endothelial cells (KRAS-EC) leads to intracerebral hemorrhage (ICH) in brain arteriovenous malformations (bAVM), resulting in severe disabilities or even death. However, it is unclear what causes this hemorrhagic conversion of bAVM. Here, using a locally established, clinically-relevant sporadic bAVM mouse model, created by overexpressing mutant KRAS (KRASG12V) in the brain EC, we demonstrate that KRAS-EC act as trigger for microglia (MG) activation and infiltration of macrophages (Mϕ). Using three-dimensional immunostaining approach with cleared human and mouse bAVM tissues, we demonstrate an abundance of MG/Mϕ around the bAVM nidus. The presence of MG/Mϕ are correlated to the …

Kenyon Collegian - February 5, 2026

The Kenyon Collegian

No abstract provided.

Effects Of Bungee-Based Training On Physical Performance And Arch Jump Kinematics In Female College Rhythmic Gymnasts, Nasser Abouzeid, Mariola Gepfert, Abdulrahman I. Alaqil, Abdulmalek K. Bursais, Hussein Hashoos, Mohammed S. Alibrahim, Labeeb Z. Moseekh, Amr S. Hamza

Baltic Journal of Health and Physical Activity

Background: The purpose of this study was to examine the effects of an eight-week bungee-based training program on selected physical performance variables and arch jump kinematics in female college rhythmic gymnasts. Material and methods: Eighteen female college students (age: 18.1 ± 0.9 years) were randomly assigned to an experimental group (EG; n = 9) or a control group (CG; n = 9). The EG completed a bungee workout training program three times per week for eight weeks, while the CG followed a traditional rhythmic gymnastics training program. Physical performance variables included vertical jump, leg strength, back strength, standing long jump, …

National Heart Center/Saudi Heart Association 2025 Guidelines For Cardiovascular Diseases Prevention And Risk Assessment, Jamilah S Alrahimi, Shukri M. Al Saif, Laith Hussain-Alkhateeb, Ali M. Albarrati, Owayed M. Alshammeri, Talal S. Alghamdi, Khalid A. Al Faraidy, Ada M Al-Qunaibet, Nada A. Alnaji, Rasha A. Alfawaz, Waleed M. Alharbi, Waleed A. Alhabeeb, Fahad M. Alnouri, Adel A. Tash

Saudi Medical Journal

Objectives: To develop an evidence-based clinical guideline for the prevention and management of cardiovascular diseases (CVDs) in Saudi Arabia, tailored to local epidemiology and healthcare needs.

Methods: A multidisciplinary task force comprising cardiologists, public health specialists, and epidemiologists from different healthcare sectors in Saudi Arabia developed the guideline. Evidence synthesis was based on a comprehensive literature review and adaptation of international guidelines, particularly the 2021 European Society of Cardiology recommendations, contextualized to the Saudi setting.

Results: The guideline provides recommendations for both primary and secondary CVD prevention. Primary prevention emphasizes risk assessment incorporating genetic, lifestyle, and clinical factors, as well …

From Text To Test: Pre-Lecture Reading Boosts Medical Students’ Comprehension And Retention, Hamad A. Alfahaad, Mohammed Y. Alasmary, Emad M. Masuadi, Mohi Eldin M. Magzoub, Henk G. Schmidt

Saudi Medical Journal

Objective: Medical students frequently attend lectures without prior review of the related literature when preparing for examinations. It raises the question of whether studying the material in advance could enhance their learning outcomes during lectures.

Methods: A total of 102 medical students from a Saudi Arabian university took part in this research. Participants were assigned to one of 2 cohorts: one read a 4-page passage before a 15-minute lecture, while the other attended the lecture before reading the passage. Knowledge acquisition was measured using a test that assessed their ability to recall concepts administered 3 times—prior to the session, post …

Juvenile Idiopathic Arthritis Registry At King Abdullah Specialized Children’S Hospital (Jiar-Kasch) In Riyadh, Saudi Arabia, Jubran T. Alqanatish, Abdullah I. Almojali, Wejdan M. Algbaiwi, Abdullah S. Alqahtani, Abdulrahman A. Alrasheed, Lubna A. Alnasser, Wafaa M. Alsuwairi

Saudi Medical Journal

Objectives: To establish and maintain a comprehensive, up-to-date registry of juvenile idiopathic arthritis (JIA) cases, and to outline the methodology used in creating it.

Methods: Retrospective and prospective data collection commenced in August 2021, using the Hospital Information System to identify electronic medical records of JIA patients. All individuals diagnosed with JIA and receiving follow-up care at King Abdullah Specialized Children’s Hospital (KASCH) in Riyadh were included. A broad range of variables covering sociodemographic characteristics, clinical features, laboratory results, imaging findings, and therapeutic medications were recorded in the REDCap platform. Data collection update occurs every 6 months.

Results: By December …

Clinical Characteristics And Outcomes Of Patients With Amphetamine Associated Emergency Department Visits At A Tertiary Care Hospital In Riyadh, Saudi Arabia, Mohammed K. Alsharef, Mahdi Almutairi, Nouf Ababtain, Mohammed Alajmi, Abdulrahman Alrajhi, Faisal Alhusain, Mohammad Al Deeb

Saudi Medical Journal

Objective: To investigate the demographic and clinical profiles of patients presenting with amphetamine-related emergencies at a tertiary hospital in Riyadh, Saudi Arabia. Amphetamine use is an escalating public health issue linked to a rise in emergency department (ED) visits.

Methods: This retrospective study encompasses 14 years and focuses on individuals diagnosed with amphetamine-related toxicity.

Results: Among the 659 cases studied, a predominant 96% were male, with over half (52%) aged between 19 and 30 years. Most patients (91%) were Saudi nationals. The leading cause of presentation was trauma, accounting for 24% of cases. This was followed by altered mental status …

Gender Differences In Sociodemographic And Clinical Characteristics Of Methamphetamine Use In Saudi Arabia, Halima M. Adam, Mohamed Abouzed, Ahmed H. Aljadani, Benayan B. Alrasheedy, Muath A. Alarfaj, Salwa R. Alshammari, Mohamed S. Almuqahwi

Saudi Medical Journal

Objectives: To explore gender-related variations in sociodemographic factors, clinical presentations, and psychosocial characteristics among methamphetamine users in Saudi Arabia.

Methods: A retrospective cross-sectional study was conducted using the electronic health records of 1,181 patients (91% male, 9% female) treated at multiple Erada Mental and Addiction Centers across Saudi Arabia (2020–2024). Data on sociodemographic characteristics, methamphetamine use patterns, psychiatric comorbidities, and psychosocial functioning were collected and analyzed using validated tools, including the Addiction Severity Index, Beck Depression and Anxiety Inventory, and Quality of Life Scale.

Results: Female participants were younger than males (mean age 25.3 vs 28.5 years; p < 0.001) and initiated methamphetamine at a later age (21.4 vs 19.2 years; p < 0.001). Females had greater proportion of daily use (65.4% vs. 60%, p …