Results 141 to 150 of about 217,185 (304)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

Advanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia, Akshay Pandey, Raffaele Spanò, Bianca Martins Estevão, Roberto Palomba, Greta Avancini, Tamaghna Gupta, Ana Maria Lopez Estevez, Stuart B. Goodman, Nidhi Bhutani, Paolo Decuzzi   +10 more
wiley   +1 more source

Quantum Phenomena in Molecular and Biological Systems: A Decoherence‐Based Decision Framework With Falsifiable Predictions and a Failure‐Mode Taxonomy

Advanced Physics Research, EarlyView.
A physics‐grounded framework based on decoherence timescales (τ_dec vs τ_func), Markovian validity, and falsifiability criteria is applied across molecular systems to distinguish where quantum effects are necessary, marginal, or irrelevant. The analysis integrates quantum chemistry, biological quantum mechanisms, and quantum computing under a unified ...
Sarfaraz K. Niazi
wiley   +1 more source

Partial Repair and Superior Capsular Reconstruction Both Improve Outcomes for Irreparable Posterosuperior Rotator Cuff Tears: A Systematic Review

Arthroscopy, EarlyView.
Purpose To synthesize patient‐reported outcome measures, failure rates, and mobility parameters for comparison of partial repair versus superior capsular reconstruction (SCR) in the treatment of irreparable posterosuperior rotator cuff tears. Methods EMBASE, OVID Medline, and Emcare were searched from database inception to November 2024 for studies on ...
Marc Daniel Bouchard, Cameron Pow, Matthew Macciacchera, Vanay Verma, Tinghua Zhang, Bogdan Matache   +5 more
wiley   +1 more source

Healing Integrity Determines Meniscal Extrusion After Isolated Medial Meniscus Posterior Root Repair in Knees With No Lower Limb Malalignment

Arthroscopy, EarlyView.
Purpose To investigate changes in meniscal extrusion and meniscal healing status following root repair, and the relationship between meniscal extrusion and healing conditions. Methods Patients who underwent isolated root repair between 2019 and 2023 and consented to undergo second‐look arthroscopy to evaluate their healing condition (1 year ...
Jin Seong Kim, Ui Jae Hwang, Chang Woo Woo, Choong Hyeok Choi, Kyu Sung Chung   +4 more
wiley   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonist Use in Obese Patients Is Associated With Decreased Risk of Revision and Retears After Arthroscopic Rotator Cuff Repair

Arthroscopy, EarlyView.
Purpose To evaluate the impact of preoperative glucagon‐like peptide‐1 receptor agonist (GLP‐1 RA) use on medical complications, emergency department use, and orthopaedic complications in obese patients undergoing arthroscopic rotator cuff repair. Methods Obese patients (defined by relevant ICD‐10 codes and confirmed by body mass index measurements ...
Argen Omurzakov, Arsen M. Omurzakov, Robert J. Burkhart, James E. Voos, Jacob G. Calcei, John M. Apostolakos   +5 more
wiley   +1 more source

Both Rerouted and In Situ Biceps Superior Capsular Reconstruction Augmentation During Arthroscopic Rotator Cuff Repair Improve Clinical Outcomes

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To evaluate the clinical and radiologic outcomes at a 2‐year follow‐up of arthroscopic rotator cuff repair (RCR) augmented with superior capsular reconstruction (SCR) using the long head of the biceps tendon (LHBT) in patients with reparable posterosuperior rotator cuff tears.
Chang Hee Baek, Bo Taek Kim, Gustavo A. Gil Noriega, Jung Gon Kim, Chaemoon Lim, Paulo J. Llinás Hernández   +5 more
wiley   +1 more source