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Articles 17911 - 17940 of 325312

Full-Text Articles in Medicine and Health Sciences

Redefining Central Nervous System Multiple Myeloma: From Rare Phenomenon To Emerging Entity, Ian Landry, Adam F. Binder, Marc Yorker, Sarah Ramirez Nov 2025

Redefining Central Nervous System Multiple Myeloma: From Rare Phenomenon To Emerging Entity, Ian Landry, Adam F. Binder, Marc Yorker, Sarah Ramirez

Department of Medical Oncology Faculty Papers

BACKGROUND: Central nervous system involvement in multiple myeloma (CNS-MM) is considered a rare but devastating manifestation of extra-medullary disease (EMD) associated with aggressive biology and dismal outcomes. Treatment advances over the past few decades have improved survival in patients with MM, however, it has not translated into a similar survival benefit for those with CNS-MM. Early recognition and targeted management of CNS-MM remain major clinical challenges.

OBJECTIVE: This literature review summarizes the current literature on epidemiology, risk factors, clinical features, diagnostic modalities, and therapeutic approaches to CNS-MM. It focuses on emerging biomarkers and new treatment options that may affect the …


Deciphering Rna Modification And Post-Transcriptional Regulation With Netrnapan, Haodong Xu, Wankun Deng, Ruifeng Hu, Binfeng Liu, Wenchao Zhang, Lujuan Wang, Lin Qi, Xiaolei Ren, Chao Tu, Zhihong Li, Zhongming Zhao Nov 2025

Deciphering Rna Modification And Post-Transcriptional Regulation With Netrnapan, Haodong Xu, Wankun Deng, Ruifeng Hu, Binfeng Liu, Wenchao Zhang, Lujuan Wang, Lin Qi, Xiaolei Ren, Chao Tu, Zhihong Li, Zhongming Zhao

Faculty, Staff and Student Publications

RNA modification, which is evolutionarily conserved, is crucial for modulating various biological functions and disease pathogenesis. High resolution transcriptome-wide mapping of RNA modifications has facilitated both data resources and computational prediction of RNA modification. While these prediction algorithms are promising, they are limited in interpretability or generalizability, or the capacity for discovering novel post-transcriptional regulations. Here, we present NetRNApan, a deep learning framework for RNA modification site prediction, motif discovery and trans-regulatory factor identification. Using m5U profiles generated by FICC-seq and miCLIP-seq technologies and single-base resolution m6A sites from multiple experiments as cases, we demonstrated the accuracy of NetRNApan with …


Nonsteroidal Anti-Inflammatory Drug Use And Acute Kidney Injury In Nephrectomies: A Retrospective Propensity Score-Matched Cohort Study, Chun-Yan Ye, Long-Yan Li, Min-Jing Yang, Xing-Yang Liu, Ning Luo, Jing-Han Wu, Yu-Jie Xiao, Daniel I Sessler, E Wang Nov 2025

Nonsteroidal Anti-Inflammatory Drug Use And Acute Kidney Injury In Nephrectomies: A Retrospective Propensity Score-Matched Cohort Study, Chun-Yan Ye, Long-Yan Li, Min-Jing Yang, Xing-Yang Liu, Ning Luo, Jing-Han Wu, Yu-Jie Xiao, Daniel I Sessler, E Wang

Faculty, Staff and Student Publications

Introduction: Nonsteroidal anti-inflammatory drugs (NSAID) are analgesic and spare opioids, but it remains unclear whether perioperative NSAID use worsens renal function after nephrectomy. We therefore tested the hypothesis that perioperative use of NSAID is associated with acute kidney injury (AKI) after nephrectomy surgery.

Methods: This retrospective cohort study included patients ≥18 years old who had partial or radical nephrectomies. Patients who were given intravenous NSAIDs for postoperative analgesia were defined as one group, whereas reference patients did not use any NSAIDs. The primary outcome was the occurrence of postoperative acute kidney injury (AKI), as defined by the Kidney Disease: Improving …


Aligning Surgical Decisions With Older Adults' Outcome Goals, Aanand D Naik, Margaret L Schwarze, Jack Banks, Suha Soni, Salman A Arain, Parag Goyal, Daniel D Matlock, Rachel Lampert, Mary E Tinetti Nov 2025

Aligning Surgical Decisions With Older Adults' Outcome Goals, Aanand D Naik, Margaret L Schwarze, Jack Banks, Suha Soni, Salman A Arain, Parag Goyal, Daniel D Matlock, Rachel Lampert, Mary E Tinetti

Faculty, Staff and Student Publications

No abstract provided.


Evaluating Interactions Between National And Subnational Governments In The Czech Republic For Physical Activity Policy Development And Implementation, Michael Pratt, Juliana Mejía-Grueso, Eugen Resendiz, Aleš Jakubec, Zdeněk Hamřík, Deborah Salvo, Andrea Ramírez Varela, Josef Mitáš Nov 2025

Evaluating Interactions Between National And Subnational Governments In The Czech Republic For Physical Activity Policy Development And Implementation, Michael Pratt, Juliana Mejía-Grueso, Eugen Resendiz, Aleš Jakubec, Zdeněk Hamřík, Deborah Salvo, Andrea Ramírez Varela, Josef Mitáš

Faculty, Staff and Student Publications

Background: Most countries now have physical activity (PA) policies but translating them into action at national and subnational levels remains poor. To better understand the disconnect, the "Interaction between National and Local Government Levels in Development and Implementation of Physical Activity Policies Tool" (INTEGRATE-PA-Pol) was developed by the Global Observatory for Physical Activity (GoPA!).

Methods: The Czech Republic was chosen as a European pilot site based on existing research capacity and relationships. The INTEGRATE-PA-Pol tool was translated and adapted for use in the country. This questionnaire-based tool has 8 components assessing government levels, political system, and sectors across the 5 …


A Longitudinal Study Of The Association Between E-Cigarette Use Contexts And Alcohol Use Problems Among College Students, Tzung-Shiang Ou, Anne Buu, James J Yang, Hsien-Chang Lin Nov 2025

A Longitudinal Study Of The Association Between E-Cigarette Use Contexts And Alcohol Use Problems Among College Students, Tzung-Shiang Ou, Anne Buu, James J Yang, Hsien-Chang Lin

Faculty, Staff and Student Publications

Objective: Previous studies had explored the associations between e-cigarette use and alcohol use problems, yet they did not fully consider e-cigarette use contexts. This longitudinal study conducted a prospective examination of e-cigarette use contexts and alcohol use problems among college students.

Participants: College e-cigarette users at three public universities from Fall 2019 to Fall 2020 were included (N = 377).

Methods: A linear mixed model with a random intercept and random slope was employed to examine the longitudinal associations.

Results: Higher frequencies of e-cigarette use (β = 0.38, p < 0.001), being hooked on e-cigarettes (β = 0.96, p < 0.01), using e-cigarettes for socializing purposes (β = 0.58, p < 0.05), and more occasions of co-using e-cigarettes with alcohol (β …


Association Of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A Topmed Multiancestry Analysis, Naman S Shetty, Mokshad Gaonkar, Akhil Pampana, Nirav Patel, April P Carson, Bernhard Haring, Bruce M Psaty, Charles Kooperberg, Eric Boerwinkle, Jerome I Rotter, João A C Lima, Jorge R Kizer, Lisa Warsinger Martin, Kent D Taylor, Michael E Hall, Myriam Fornage, Sanjiv J Shah, Stephen S Rich, Ramachandran S Vasan, Rami Nassir, Peng Li, Garima Arora, Pankaj Arora Nov 2025

Association Of Pathogenic/Likely Pathogenic Inherited Cardiomyopathy Variants With Heart Failure: A Topmed Multiancestry Analysis, Naman S Shetty, Mokshad Gaonkar, Akhil Pampana, Nirav Patel, April P Carson, Bernhard Haring, Bruce M Psaty, Charles Kooperberg, Eric Boerwinkle, Jerome I Rotter, João A C Lima, Jorge R Kizer, Lisa Warsinger Martin, Kent D Taylor, Michael E Hall, Myriam Fornage, Sanjiv J Shah, Stephen S Rich, Ramachandran S Vasan, Rami Nassir, Peng Li, Garima Arora, Pankaj Arora

Faculty, Staff and Student Publications

OBJECTIVE: To evaluate the prevalence of pathogenic/likely pathogenic inherited cardiomyopathy variants and their association with heart failure in the (TOPMed) TransOmic for Precision of Medicine cohorts.

METHODS: A retrospective cohort study using the TOPMed cohorts, including multi-ancestry US adults (≥18 years of age) with sequencing data, was conducted. Pathogenic/likely pathogenic inherited cardiomyopathy variant carrier status was determined based on ClinVar variants classified with two or more stars of evidence. Individuals without pathogenic/likely pathogenic variants were used as the reference group. The primary outcome was heart failure , adjudicated by an expert panel. Cox proportional hazards models assessed the association between …


An Update On Non-Cigarette Nicotine-Containing Products And The Periodontal Patient, Brendan Keeney D.D.S., Ryan Schure Dds, Msc, Frcd Nov 2025

An Update On Non-Cigarette Nicotine-Containing Products And The Periodontal Patient, Brendan Keeney D.D.S., Ryan Schure Dds, Msc, Frcd

The New York State Dental Journal

The adverse general and oral health effects from traditional cigarette smoking are supported by decades of research. However, the use of cigarettes in the United States is on the decline, and current research and literature is relatively lacking with respect to novel nicotine consumption methods. Given the increasing and significant use of non-cigarette nicotine-containing products, such as electronic cigarettes, oral nicotine pouches and hookah pipes, attention from oral healthcare providers is warranted. An understanding of the potential negative periodontal outcomes related to these newer nicotine delivery systems is crucial to properly educating and treating patients today.


N Y State Dent J November 2025 Nov 2025

N Y State Dent J November 2025

The New York State Dental Journal

In the November 2025 issue, the reader will find the following feature articles:

  • "Attitudes of New York State Pediatric Dentists Toward Treating Hasidic Patients"
  • "A Qualitative Assessment of the Role of Dental Specialists in U.S. Opioid Epidemic"
  • "Revolutionizing Dental Operatories"
  • "An Update on Non-Cigarette Nicotine-Containing Products and the Periodontal Patient"

This issue includes regular columns with regional news impacting the New York membership including: editorial and legal columns, association activities, component news, continuing education opportunities, and classifieds.


Effects Of Aromatherapy On Promoting Sleep In Patients With Neurological Deficits, Cherylle Reed Nov 2025

Effects Of Aromatherapy On Promoting Sleep In Patients With Neurological Deficits, Cherylle Reed

Electronic Theses and Dissertations

Reliance on sleep aids in neurological patient population can lead to negative side effects and compromise patient safety. The purpose of this doctoral nursing project was to determine if the implementation of McDonnell and Newcomb’s aromatherapy process will reduce the incidence of sleep-promoting medication administration as compared to the current practice in neurological deficit patients over 4 weeks. A quantitative, quasi-experimental design evaluated effects on sleep quality and pharmacological sleep aids by using McDonnell and Newcomb’s aromatherapy combination of lavender, bergamot, and ylang ylang essential oils placed on a cotton ball at the patient’s bedside each night. The sample included …


Health Disparity Indices In The Assessment Of Adolescent Idiopathic Scoliosis: Are All Indices Similar?, William Woodhams, Michael Benvenuti, Jonathan Warren, George Thomas, John Anderson, Richard M. Schwend, K Aaron Shaw Nov 2025

Health Disparity Indices In The Assessment Of Adolescent Idiopathic Scoliosis: Are All Indices Similar?, William Woodhams, Michael Benvenuti, Jonathan Warren, George Thomas, John Anderson, Richard M. Schwend, K Aaron Shaw

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a common spinal deformity. Previous studies have demonstrated that healthcare disparities affect the initial presentation of AIS patients. However, studies have utilized various socioeconomic status (SES) indices with no previous study assessing the congruency of these indices.

METHODS: A single-center, retrospective review of adolescent patients presenting for initial evaluation of scoliosis was performed at a tertiary care pediatric hospital based in the central United States. Patient demographic data were recorded in addition to radiographic data consisting of coronal curve magnitude at presentation and skeletal maturity indices. Socioeconomic variables were collected, including geographic area of …


Preoperative Immobilization For Pediatric Femur Fractures., Connor Mathes, Leilani Mansy, Lisa Berglund, Caleb W. Grote Nov 2025

Preoperative Immobilization For Pediatric Femur Fractures., Connor Mathes, Leilani Mansy, Lisa Berglund, Caleb W. Grote

Manuscripts, Articles, Book Chapters and Other Papers

Guidelines for the definitive surgical management of pediatric femoral shaft fractures have recently been established. Initial preoperative immobilization of these patients varies by age and size; limited guidelines exist to guide caregivers in appropriate preoperative care. Here, we present our recommendations based on clinical experience and literature review. We prefer temporary splints for patients younger than 5 years and Bucks boot traction for skeletally immature patients older than 5 years. In small patients, the splint should extend past the iliac crest and down to the foot to ensure proper immobilization of the femur fracture. For Bucks boot traction, proper traction …


Bilateral Pleuropulmonary Blastoma In An Infant., R Guanà, E Zambaiti, Maria Grazia Sacco Casamassima, S Garofalo, L Lonati, E Stanton, F Gennari Nov 2025

Bilateral Pleuropulmonary Blastoma In An Infant., R Guanà, E Zambaiti, Maria Grazia Sacco Casamassima, S Garofalo, L Lonati, E Stanton, F Gennari

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Zero Fluoroscopy Ablation Of Arrhythmias In Patients With Congenital Heart Disease, Shailendra Upadhyay, Jenna Schermerhorn, Whitney Fairchild, Jamie Bopp, Irfan Warsy Nov 2025

Zero Fluoroscopy Ablation Of Arrhythmias In Patients With Congenital Heart Disease, Shailendra Upadhyay, Jenna Schermerhorn, Whitney Fairchild, Jamie Bopp, Irfan Warsy

Manuscripts, Articles, Book Chapters and Other Papers

Aims

Radiation-free catheter ablation is feasible with modern electroanatomic mapping systems. We aimed to evaluate the feasibility, safety, and outcomes of non-fluoroscopic ablation (NFA) in patients with congenital heart disease (CHD).

Methods

We retrospectively reviewed CHD patients who underwent NFA between November 2016 and January 2025. All procedures were performed using the CARTO 3D electroanatomic mapping system. Atrial, ventricular, and aortic geometries were reconstructed as needed. Catheter navigation and sheath placement were guided without fluoroscopy; intracardiac echocardiography was used selectively.

Results

Forty-two patients (23 females) with CHD underwent NFA. The median age was 14 years (range 4–56), and median weight …


Exploring Nursing Students’ Experiences Of Factors Influencing Reflective Practice In Clinical Setting, Wafaa El Zaatari, Imad Maalouf Nov 2025

Exploring Nursing Students’ Experiences Of Factors Influencing Reflective Practice In Clinical Setting, Wafaa El Zaatari, Imad Maalouf

All Works

Purpose – Reflective practice is crucial in clinical nursing education at a nursing college in Al Ain. This study aims to explore nursing students’ perspectives on reflective practice in a clinical setting. Design/methodology/approach – The study employed an exploratory case study design, using semi-structured interviews to collect data from eight nursing students studying at a nursing college in the UAE. The recorded interviews were transcribed verbatim and manually analysed using thematic analysis. Findings – Three main themes have been extracted, and these are the significance of reflection, facilitating factors and hindering factors. Four sub-themes emerged from the facilitating factors: moral …


Law Library Blog (November 2025): Legal Beagle's Blog Archive, Roger Williams University School Of Law Nov 2025

Law Library Blog (November 2025): Legal Beagle's Blog Archive, Roger Williams University School Of Law

Law Library Newsletters/Blog

No abstract provided.


Single-Cell-Driven Design Of Logic-Gated Car Circuits For Enhanced Solid Tumor Immunotherapy, Sanna Madan, Tian-Gen Chang, Alexandra Harris, Huaitian Liu, Andrew Martinez, Saugato Dhruba, Binbin Wang, Padma Rajagopal, Sanju Sinha, Shahin Sayed Nov 2025

Single-Cell-Driven Design Of Logic-Gated Car Circuits For Enhanced Solid Tumor Immunotherapy, Sanna Madan, Tian-Gen Chang, Alexandra Harris, Huaitian Liu, Andrew Martinez, Saugato Dhruba, Binbin Wang, Padma Rajagopal, Sanju Sinha, Shahin Sayed

Pathology, East Africa

Background Chimeric antigen receptor (CAR) T-cell therapy has revolutionized cancer immunotherapy for hematological malignancies but faces critical barriers in solid tumors due to tumor antigen heterogeneity and on-target, off-tumor toxicities. Logic-gated multi-antigen targeting using Boolean operators (AND, OR, NOT) represents an emerging precision immunotherapy engineering approach to overcome these challenges.

Methods We developed LogiCAR designer, a genetic algorithm-based computational framework that systematically identifies optimal logic-gated antigen combinations (i.e., ‘circuits’) from single-cell transcriptomics data. The algorithm identifies CAR circuits consisting of 1-5 antigens from 2,758 cell surface proteins, optimizing tumor-targeting efficacy while maintaining stringent safety requirements in normal tissues. …


Who Classification Of Skin Tumours: Key Updates In The Fifth Edition, Gabrielle Goldman-Lévy, Raymond Barnhill, Boris Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Shahin Sayed Nov 2025

Who Classification Of Skin Tumours: Key Updates In The Fifth Edition, Gabrielle Goldman-Lévy, Raymond Barnhill, Boris Bastian, Werner Kempf, David Elder, Pedram Gerami, Wayne Grayson, Dmitry Kazakov, Daniela Massi, Shahin Sayed

Pathology, East Africa

The 5th edition of the World Health Organization Classification of Tumours (WCT) serves as a foundation for global diagnostic standards in tumour pathology. Similar to other volumes in this series, the Skin Tumours (Skin5) edition follows a standardized approach. This edition introduces two new chapters: ‘Tumours of the nail unit’ and ‘Metastases to skin’, along with new entities across relevant chapters. This review article provides an overview of the updates in Skin5 based on currently published evidence, with emphasis on newly introduced chapters and newly described entities that involve the skin, in particular, epidermal, melanocytic and appendageal tumours.


Substituted Piperidines As (Alpha4)3(Beta2)2 Nicotinic Acetylcholine Receptor Positive Allosteric Modulators: In Vitro Pharmacology, Nataly Sanchez, Josue Gaona, Wilder Felix, Nathalia Menegasso, Brisa Cea, Ganesh Thakur, Ayman K. Hamouda Nov 2025

Substituted Piperidines As (Alpha4)3(Beta2)2 Nicotinic Acetylcholine Receptor Positive Allosteric Modulators: In Vitro Pharmacology, Nataly Sanchez, Josue Gaona, Wilder Felix, Nathalia Menegasso, Brisa Cea, Ganesh Thakur, Ayman K. Hamouda

School of Medicine Student Publications and Presentations

Nicotinic acetylcholine receptors (nAChRs) play a crucial role in the pathogenesis of neurodegenerative diseases such as Parkinsonʼs disease (PD). In PD, degeneration of dopaminergic and cholinergic neurons impairs neurotransmitter release, leading to cognitive and motor dysfunction. Current treatments provide only symptomatic relief, highlighting the need for novel therapeutic strategies. The (α4)₃(β2)₂ subtype of nAChRs is expressed on affected neurons, making it a promising druggable target for enhancing neurotransmitter release and providing neuroprotection. To explore the therapeutic potential of positive allosteric modulators (PAMs) of (α4)₃(β2)₂ nAChRs, we evaluated chemical derivatives of CMPI [3-(2-chlorophenyl)-5-(5-methyl-1-(piperidin-4-yl)-1H-pyrazol-4-yl)isoxazole]. We used two-electrode voltage-clamp recordings from Xenopus laevis …


Microbial Signals In Primary And Metastatic Brain Tumors, Golnaz Morad, Ashish V Damania, Brenda Melendez, Bharat B Singh, Fabiana J Veguilla, Rebecca A Soto, Yasmine M Hoballah, Pranoti V Sahasrabhojane, Matthew C Wong, Mona M Ahmed, Rene N Rico, Kaitlyn N Lewis, Khalida Wani, Diana D Shamsutdinova, Rossana N Lazcano Segura, Davis R Ingram, Eric A Goethe, Abderrahman Day, Ivonne I Flores, Lauren K Mcdaniel, Manoj Chelvanambi, Sarah B Johnson, Florentia Dimitriou, Pravesh Gupta, Shivangi Oberai, M Anna Zal, Phoebe Doss, Mohamed A Jamal, Eiko Hayase, Chetna Wathoo, Lisa M Norberg, Stephanie L Jenkins, Sara Nass, Joy Gumin, Lihong Long, Jing Yang, Gina R Bradley, Mahesh Prasad Bekal, Antonio G Dono, Pavel S Pichardo-Rojas, Samuel W Andrewes, Leomar Y Ballester, Jillian S Losh, Jiyong Liang, Longfei Huo, Douglas C Nielsen, Brittany C Parker Kerrigan, Priscilla K Brastianos, Natalie Wall Fowlkes, Chia-Chi Chang, Robert R Jenq, Candelaria Gomez-Manzano, Jason T Huse, Michael A Davies, Alexander J Lazar, Krishna P Bhat, Nitin Tandon, Yoshua Esquenazi, Christine B Peterson, Vinay K Puduvalli, Frederick F Lang, Christopher D Johnston, Susan Bullman, Nadim J Ajami, Sherise D Ferguson, Jennifer A Wargo Nov 2025

Microbial Signals In Primary And Metastatic Brain Tumors, Golnaz Morad, Ashish V Damania, Brenda Melendez, Bharat B Singh, Fabiana J Veguilla, Rebecca A Soto, Yasmine M Hoballah, Pranoti V Sahasrabhojane, Matthew C Wong, Mona M Ahmed, Rene N Rico, Kaitlyn N Lewis, Khalida Wani, Diana D Shamsutdinova, Rossana N Lazcano Segura, Davis R Ingram, Eric A Goethe, Abderrahman Day, Ivonne I Flores, Lauren K Mcdaniel, Manoj Chelvanambi, Sarah B Johnson, Florentia Dimitriou, Pravesh Gupta, Shivangi Oberai, M Anna Zal, Phoebe Doss, Mohamed A Jamal, Eiko Hayase, Chetna Wathoo, Lisa M Norberg, Stephanie L Jenkins, Sara Nass, Joy Gumin, Lihong Long, Jing Yang, Gina R Bradley, Mahesh Prasad Bekal, Antonio G Dono, Pavel S Pichardo-Rojas, Samuel W Andrewes, Leomar Y Ballester, Jillian S Losh, Jiyong Liang, Longfei Huo, Douglas C Nielsen, Brittany C Parker Kerrigan, Priscilla K Brastianos, Natalie Wall Fowlkes, Chia-Chi Chang, Robert R Jenq, Candelaria Gomez-Manzano, Jason T Huse, Michael A Davies, Alexander J Lazar, Krishna P Bhat, Nitin Tandon, Yoshua Esquenazi, Christine B Peterson, Vinay K Puduvalli, Frederick F Lang, Christopher D Johnston, Susan Bullman, Nadim J Ajami, Sherise D Ferguson, Jennifer A Wargo

Faculty, Staff and Student Publications

Gliomas and brain metastases are associated with poor prognosis, necessitating a deeper understanding of brain tumor biology and the development of effective therapeutic strategies. Although our group and others have demonstrated microbial presence in various tumors, recent controversies regarding cancer-type-specific intratumoral microbiota emphasize the importance of rigorous, orthogonal validation. This prospective, multi-institutional study included a total of 243 samples from 221 patients, comprising 168 glioma and brain metastases samples and 75 non-cancerous or tumor-adjacent tissues. Using stringent fluorescence in situ hybridization, immunohistochemistry and high-resolution spatial imaging, we detected intracellular bacterial 16S rRNA and lipopolysaccharides in both glioma and brain metastases …


Targeting The Hippo Pathway For Cardiac Regeneration, Rich Gang Li, Fansen Meng, James F Martin Nov 2025

Targeting The Hippo Pathway For Cardiac Regeneration, Rich Gang Li, Fansen Meng, James F Martin

Faculty, Staff and Students Publications

Ischemic heart disease, which affects more than 200 million people worldwide, is caused by reduced blood flow to the heart and leads to widespread cardiomyocyte death. Due to the limited regenerative potential of cardiomyocytes, the lost tissue is replaced by a fibrotic scar, resulting in reduced cardiac function and progression to heart failure. Current therapeutic interventions aim to improve blood flow but cannot address the inability of cardiomyocytes to renew after injury. However, multiple studies have shown that modulating the Hippo signaling pathway to activate Yes-associated protein (YAP), a transcription coactivator, in adult murine and porcine cardiomyocytes induces robust cardiomyocyte …


Gregor: Accelerating Genomics For Rare Diseases, Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan Lotempio, Laurens Wiel, Seth Berger, Jonathan A Bernstein, Jessica X Chong, Emmanuèle C Délot, Evan E Eichler, James R Lupski, Ali Shojaie, Michael E Talkowski, Alex H Wagner, Chia-Lin Wei, Christopher Wellington, Matthew T Wheeler, Gregor Partner Members, Claudia M B Carvalho, Richard A Gibbs, Casey A Gifford, Susanne May, Danny E Miller, Heidi L Rehm, Kaitlin E Samocha, Fritz J Sedlazeck, Eric Vilain, Anne O'Donnell-Luria, Jennifer E Posey, Lisa H Chadwick, Michael J Bamshad, Stephen B Montgomery, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium Nov 2025

Gregor: Accelerating Genomics For Rare Diseases, Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan Lotempio, Laurens Wiel, Seth Berger, Jonathan A Bernstein, Jessica X Chong, Emmanuèle C Délot, Evan E Eichler, James R Lupski, Ali Shojaie, Michael E Talkowski, Alex H Wagner, Chia-Lin Wei, Christopher Wellington, Matthew T Wheeler, Gregor Partner Members, Claudia M B Carvalho, Richard A Gibbs, Casey A Gifford, Susanne May, Danny E Miller, Heidi L Rehm, Kaitlin E Samocha, Fritz J Sedlazeck, Eric Vilain, Anne O'Donnell-Luria, Jennifer E Posey, Lisa H Chadwick, Michael J Bamshad, Stephen B Montgomery, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium

Faculty, Staff and Students Publications

Rare diseases are collectively common, affecting approximately 1 in 20 individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in next-generation sequencing, development of new computational and functional genomics approaches to prioritize genes and variants and increased global sharing of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize and evaluate emerging genomics technologies …


Ocular Bacterial Microbiome Analysis By Next-Generation Sequencing In Patients With Stevens-Johnson Syndrome And Sjögren’S Disease: Associations With Dry Eye Indices, Luciana Frizon, Talita Trevizani Rocchetti, André Frizon, Rafael Jorge Alves De Alcântara, Ana Luisa Hofling-Lima, Cintia S De Paiva, José Álvaro Pereira Gomes Nov 2025

Ocular Bacterial Microbiome Analysis By Next-Generation Sequencing In Patients With Stevens-Johnson Syndrome And Sjögren’S Disease: Associations With Dry Eye Indices, Luciana Frizon, Talita Trevizani Rocchetti, André Frizon, Rafael Jorge Alves De Alcântara, Ana Luisa Hofling-Lima, Cintia S De Paiva, José Álvaro Pereira Gomes

Faculty, Staff and Students Publications

The ocular surface microbiome plays a crucial role in maintaining immune homeostasis, and its disruption may contribute to mucosal inflammation and autoimmunity. This pilot exploratory study investigated and compared the ocular surface bacterial microbiome in patients with Stevens-Johnson syndrome (SJS), Sjögren's disease (SjD), and healthy controls using next-generation sequencing (NGS) and correlated these findings with dry eye parameters. Conjunctival swabs were collected from sixteen individuals: ten with SJS, three with SjD, and three healthy controls. Dry eye parameters were employed to evaluate the dry eye disease. Microbiome profiles were determined by the NGS of the 16S V3-V4 region and analyzed …


Exploring Multimodal Large Language Models On Transthoracic Echocardiogram (Tte) Tasks For Cardiovascular Decision Support, Jianfu Li, Yiming Li, Zenan Sun, Evan Yu, Ahmed M Abdelhameed, Weiguo Cao, Haifang Li, Jianping He, Pengze Li, Jingna Feng, Yue Yu, Xinyue Hu, Manqi Li, Rakesh Kumar, Yifang Dang, Fang Li, Shahyar M Gharacholou, Cui Tao Nov 2025

Exploring Multimodal Large Language Models On Transthoracic Echocardiogram (Tte) Tasks For Cardiovascular Decision Support, Jianfu Li, Yiming Li, Zenan Sun, Evan Yu, Ahmed M Abdelhameed, Weiguo Cao, Haifang Li, Jianping He, Pengze Li, Jingna Feng, Yue Yu, Xinyue Hu, Manqi Li, Rakesh Kumar, Yifang Dang, Fang Li, Shahyar M Gharacholou, Cui Tao

Faculty, Staff and Student Publications

Objective: Multimodal large language models (LLMs) offer new potential for enhancing cardiovascular decision support, particularly in interpreting echocardiographic data. This study systematically evaluates and benchmarks foundation models from diverse domains on echocardiogram-based tasks to assess their effectiveness, limitations and potential in clinical cardiovascular applications.

Methods: We curated three cardiovascular imaging datasets-EchoNet-Dynamic, TMED2, and an expert-annotated echocardiogram (TTE) dataset-to evaluate performance on four critical tasks: (1) cardiac function evaluation through ejection fraction (EF) prediction, (2) cardiac view classification, (3) aortic stenosis (AS) severity assessment, and (4) cardiovascular disease classification. We evaluated six multimodal LLMs: EchoClip (cardiovascular-specific), BiomedGPT and LLaVA-Med (medical-domain), and …


Scaling Up Biomedical Vision-Language Models: Fine-Tuning, Instruction Tuning, And Multi-Modal Learning, Cheng Peng, Kai Zhang, Mengxian Lyu, Hongfang Liu, Lichao Sun, Yonghui Wu Nov 2025

Scaling Up Biomedical Vision-Language Models: Fine-Tuning, Instruction Tuning, And Multi-Modal Learning, Cheng Peng, Kai Zhang, Mengxian Lyu, Hongfang Liu, Lichao Sun, Yonghui Wu

Faculty, Staff and Student Publications

Objective: To advance biomedical vision language model capabilities through scaling up, fine-tuning, and instruction tuning, develop vision-language models with improved performance in handling long text, explore strategies to efficiently adopt vision language models for diverse multi-modal biomedical tasks, and examine the zero-shot learning performance.

Methods: We developed two biomedical vision language models, BiomedGPT-Large and BiomedGPT-XLarge, based on an encoder-decoder-based transformer architecture. We fine-tuned the two models on 23 benchmark datasets from 6 multi-modal biomedical tasks, including one image-only task (image classification), three language-only tasks (text understanding, text summarization, and question answering), and two vision-language tasks (visual question answering and image …


The Mythology Of Polymyositis, Suur Biliciler, Tahseen Mozaffar Nov 2025

The Mythology Of Polymyositis, Suur Biliciler, Tahseen Mozaffar

Faculty, Staff and Student Publications

Polymyositis (PM) has been in the diagnostic armamentarium in medicine since the mid-nineteenth century. Medicine training puts a heavy emphasis on this diagnosis, and anyone with proximal muscle weakness with elevated serum creatinine kinase is assumed to be PM and a number of patients were rendered this diagnosis without additional testing. This article addresses the historical aspects of the diagnosis of PM and its evolution. We review this literature that addresses the rarity of this diagnosis and rightly puts in perspective in terms of its occurrence in relation to other inflammatory myositides.


Innovations In Thrombectomy Training: A Systematic Review And Expert Recommendations From The Society Of Vascular And Interventional Neurology-Mission Thrombectomy Initiative, Fawaz Al-Mufti, Mohamed Elfil, Abdallah Abbas, Haneen Sabet, Hazem S Ghaith, Ariel Sacknovitz, Ankita Jain, Victor Urrutia, Nabeel Herial, Gabor Toth, Mohamad El-Ghanem, Krishna Amuluru, Viktor C Szeder, Jonathan Crowe, Karol Budohoski, Zurab Nadareishvili, Kaustubh Limaye, Fazeel Siddiqui, Boris Pabon, Ossama Yassin Mansour, Atilla Ozcan Ozdemir, Houman Khosravani, Hamza Shaikh, Nishita Singh, Hesham Masoud, Sushanth R Aroor, Shashvat Desai, Santiago Ortega-Gutierrez, Fredrick Echols, Thanh N Nguyen, Pankajavalli Ramakrishnan, Priyank Khandelwal, Dileep R Yavagal, Kaiz Asif Nov 2025

Innovations In Thrombectomy Training: A Systematic Review And Expert Recommendations From The Society Of Vascular And Interventional Neurology-Mission Thrombectomy Initiative, Fawaz Al-Mufti, Mohamed Elfil, Abdallah Abbas, Haneen Sabet, Hazem S Ghaith, Ariel Sacknovitz, Ankita Jain, Victor Urrutia, Nabeel Herial, Gabor Toth, Mohamad El-Ghanem, Krishna Amuluru, Viktor C Szeder, Jonathan Crowe, Karol Budohoski, Zurab Nadareishvili, Kaustubh Limaye, Fazeel Siddiqui, Boris Pabon, Ossama Yassin Mansour, Atilla Ozcan Ozdemir, Houman Khosravani, Hamza Shaikh, Nishita Singh, Hesham Masoud, Sushanth R Aroor, Shashvat Desai, Santiago Ortega-Gutierrez, Fredrick Echols, Thanh N Nguyen, Pankajavalli Ramakrishnan, Priyank Khandelwal, Dileep R Yavagal, Kaiz Asif

Faculty, Staff and Student Publications

Background: Mechanical thrombectomy is a critical intervention for patients with acute ischemic stroke with large vessel occlusion. However, significant barriers remain in its widespread implementation, particularly in low- to middle-income countries, including a shortage of trained physicians and limited access to advanced medical technologies. This systematic review and meta-analysis aimed to comprehensively evaluate current mechanical thrombectomy training methodologies and assess their effectiveness in improving procedural skills among neurointerventional teams.

Methods: We conducted a systematic review following Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines, searching PubMed, Scopus, and Web of Science. Eight studies were included, with 3 studies eligible …


Consensus Statement On Middle Meningeal Artery Embolization In Chronic Subdural Hematoma Treatment: A Guideline From The Society Of Vascular And Interventional Neurology Guidelines And Practice Standards Committee, Farhan Siddiq, Muhammad Shakir, Thanh N Nguyen, Ameer E Hassan, Mohamad Abdalkader, Cynthia L Kenmuir, David S Liebeskind, Robin Novakovic, Shahram Majidi, Sunil A Sheth, Mohammad El-Ghanem, Santiago Ortega-Gutierrez, Waldo R Guerrero, Amer M Malik Nov 2025

Consensus Statement On Middle Meningeal Artery Embolization In Chronic Subdural Hematoma Treatment: A Guideline From The Society Of Vascular And Interventional Neurology Guidelines And Practice Standards Committee, Farhan Siddiq, Muhammad Shakir, Thanh N Nguyen, Ameer E Hassan, Mohamad Abdalkader, Cynthia L Kenmuir, David S Liebeskind, Robin Novakovic, Shahram Majidi, Sunil A Sheth, Mohammad El-Ghanem, Santiago Ortega-Gutierrez, Waldo R Guerrero, Amer M Malik

Faculty, Staff and Student Publications

Background: Emerging evidence from observational studies, meta-analyses, and clinical trials has reshaped the treatment landscape of chronic subdural hematoma (CSDH). This guideline provides updated recommendations on diagnosis, patient selection, and medical, surgical, and endovascular management.

Methods: The Society of Vascular and Interventional Neurology Guidelines and Practice Standards committee formed a writing group of interdisciplinary experts to review current literature. Recommendations were based on clinical trial data, observational studies, and expert consensus, following the Society of Vascular and Interventional Neurology Class of Recommendation and Level of Evidence framework.

Results: EMBOLISE (Embolization of the Middle Meningeal Artery With ONYX Liquid Embolic System …


Depression Polygenicity And Disease Activity And Disability Worsening In Multiple Sclerosis, Ali Manouchehrinia, Kathryn C Fitzgerald, Amber Salter, Ruth Ann Marrie, Lars Alfredsson, Charles N Bernstein, James M Bolton, Gary Cutter, John D Fisk, Lesley A Graff, Carol A Hitchon, Jan Hillert, Ingrid Kockum, Yi Lu, Fred D Lublin, Kyla Mckay, Tomas Olsson, Scott Patten, Amit Patki, Hayley Riel, Klementy Shchetynsky, Pernilla Stridh, Hemant K Tiwari, Jerry S Wolinsky, Kaarina Kowalec Nov 2025

Depression Polygenicity And Disease Activity And Disability Worsening In Multiple Sclerosis, Ali Manouchehrinia, Kathryn C Fitzgerald, Amber Salter, Ruth Ann Marrie, Lars Alfredsson, Charles N Bernstein, James M Bolton, Gary Cutter, John D Fisk, Lesley A Graff, Carol A Hitchon, Jan Hillert, Ingrid Kockum, Yi Lu, Fred D Lublin, Kyla Mckay, Tomas Olsson, Scott Patten, Amit Patki, Hayley Riel, Klementy Shchetynsky, Pernilla Stridh, Hemant K Tiwari, Jerry S Wolinsky, Kaarina Kowalec

Faculty, Staff and Student Publications

Objective: A better understanding of factors associated with multiple sclerosis (MS) disease activity and disability is needed. Given the strong link between comorbid depression and MS disease activity and disability, we aimed to determine whether the depression genetic burden, as modelled using its polygenic score, is associated with MS disease activity and disability worsening.

Methods: In this cohort study, we used samples from neurologist-defined adult people with MS (PwMS) followed in clinical care or during a clinical trial from existing cohorts: Canada, the United States (US), and Sweden with extensive longitudinal phenotypes. We computed the depression polygenic score (PGS) and …


Colorectal-Specific Radiation Dose And Chemotherapy Risk For Subsequent Colorectal Malignancies In Childhood Cancer Survivors: A Childhood Cancer Survivor Study (Ccss) Report, Constance A Owens, Ethan B Ludmir, Qi Liu, Weiyu Qiu, Aashish C Gupta, Susan A Smith, Bastien Rigaud, Kristy K Brock, James E Bates, Taylor G Meyers, Arnold C Paulino, Christine B Peterson, Stephen F Kry, Jop C Teepen, Cécile M Ronckers, Joseph P Neglia, Wendy M Leisenring, Kevin C Oeffinger, Paul C Nathan, Lucie M Turcotte, David C Hodgson, Melissa M Hudson, Leslie L Robison, Chaya S Moskowitz, Gregory T Armstrong, Tara O Henderson, Yutaka Yasui, Rebecca M Howell Nov 2025

Colorectal-Specific Radiation Dose And Chemotherapy Risk For Subsequent Colorectal Malignancies In Childhood Cancer Survivors: A Childhood Cancer Survivor Study (Ccss) Report, Constance A Owens, Ethan B Ludmir, Qi Liu, Weiyu Qiu, Aashish C Gupta, Susan A Smith, Bastien Rigaud, Kristy K Brock, James E Bates, Taylor G Meyers, Arnold C Paulino, Christine B Peterson, Stephen F Kry, Jop C Teepen, Cécile M Ronckers, Joseph P Neglia, Wendy M Leisenring, Kevin C Oeffinger, Paul C Nathan, Lucie M Turcotte, David C Hodgson, Melissa M Hudson, Leslie L Robison, Chaya S Moskowitz, Gregory T Armstrong, Tara O Henderson, Yutaka Yasui, Rebecca M Howell

Faculty, Staff and Student Publications

Purpose: Among childhood cancer survivors, we evaluated not previously explored relationships between colorectal subsequent malignant neoplasm (SMN) incidence and colorectum-specific radiation dose metrics currently used in radiation therapy (RT) planning and expanded upon previously reported chemotherapy associations.

Methods: The Childhood Cancer Survivor Study (CCSS) includes 5-year survivors of childhood cancer diagnosed between 1970 and 1999. RT was assessed as mean colorectal dose (MCD) and the percent volume (VX Gy) receiving ≥5, 10, 20, 30, and 40 Gy. Chemotherapy was assessed as cumulative doses for procarbazine and platinum agents, cyclophosphamide-equivalent doses for alkylating agents, and doxorubicin-equivalent doses for anthracyclines. Piecewise-exponential models …