Results 71 to 80 of about 914,562 (245)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Sex differences in fetal growth and immediate birth outcomes in a low-risk Caucasian population

Biology of Sex Differences, 2019
Background According to the WHO Multicentre Growth Reference Study Group recommendations, boys and girls have different growth trajectories after birth.
Sander Galjaard, Lieveke Ameye, Christoph C. Lees, Anne Pexsters, Tom Bourne, Dirk Timmerman, Roland Devlieger   +6 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Involving Knowledge Users in Health Services Research: Collective Reflections and Learning From a National Evaluation of Recurrent Miscarriage Services

Health Expectations
Introduction Involving knowledge users in research can facilitate the translation of evidence into policy and practice. How to best involve and support various types of knowledge users, including patient and public involvement contributors, in research ...
Marita Hennessy, Rebecca Dennehy, Hannah O'Leary, Keelin O'Donoghue, RE:CURRENT Research Advisory Group   +4 more
doaj   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

Impact of Positive Lifestyle Behaviors on Direct Health Care Cost Savings for Low Back Pain

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate the relationship between a previously purpose‐developed lifestyle behavior scale and health care cost savings related to low back pain (LBP). Methods This longitudinal study used data from the Australian Twin Back (AUTBACK) study. LBP and lifestyle behavior measures were collected at baseline. Physical activity
Ye Tian, Katharine E. Roberts, Michelle Hall, Paula R. Beckenkamp, Angelo Sabag, Karoline Moe, Ana Paula Carvalho‐e‐Silva, Emily J. Callander, Paulo H. Ferreira   +8 more
wiley   +1 more source

Recurrent Miscarriage and Infertility Services and Supports: A Qualitative Study of Views and Experiences in the Republic of Ireland

Health Expectations
Background Recurrent miscarriage (RM) and infertility are separately associated with psychological distress and adverse pregnancy outcomes. The dual experience is devastating for women/couples but is not considered in clinical guidance for RM or ...
Laura Aoife Linehan, Marita Hennessy, Keelin O'Donoghue   +2 more
doaj   +1 more source

Sex Differences in Medication Discontinuation in Axial Spondyloarthritis

Arthritis Care &Research, EarlyView.
Objective We examined sex differences in medication discontinuation among patients with axial spondyloarthritis (axSpA) initiating tumor necrosis factor inhibitors (TNFi), interleukin‐17 inhibitors (IL‐17i), or JAK inhibitors (JAKi). Methods Using data from the Rheumatology Informatics System for Effectiveness (RISE) Registry (2003–2025), we assessed ...
Rachael Stovall, Cinthia Blat, Eric Roberts, Jean W. Liew, Katherine Wysham, Namrata Singh, Janna Friedly, Lianne S. Gensler, Gabriela Schmajuk, Jinoos Yazdany   +9 more
wiley   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Accepted Article.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source