Results 41 to 50 of about 169 (169)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Pregnancy Outcomes of Targeted Synthetic Disease‐Modifying Antirheumatic Drugs Among Patients With Autoimmune Diseases: A Scoping Review

Arthritis Care &Research, EarlyView.
Objective Targeted synthetic disease‐modifying antirheumatic drugs (tsDMARDs) have expanded the management of autoimmune diseases, including rheumatic diseases. As the use of these drugs grows, it is important to understand their effects on pregnancy.
Vienna Cheng, Neda Amiri, Vicki Cheng, Ursula Ellis, Jacquelyn J. Cragg, Mark Harrison, Laurie Proulx, Mary A. De Vera   +7 more
wiley   +1 more source

Patient Perceptions of Medication Therapy for Prevention of Posttraumatic Osteoarthritis Following Anterior Cruciate Ligament Injury: A Qualitative Content Analysis

Arthritis Care &Research, EarlyView.
Objective Posttraumatic osteoarthritis (PTOA) accounts for nearly 12% of osteoarthritis incidences and often occurs after anterior cruciate ligament (ACL) tear. Ensuring the uptake of preventive treatments for PTOA requires that investigators and clinicians understand factors influencing patients to seek preventive therapies.
Lily M. Waddell, Donald P. Mitchener, Kelly C. Frier, Morgan H. Jones, Elena Losina, Nick Bansback, Liana Fraenkel, Jason S. Kim, Jeffrey N. Katz, Faith Selzer, Adam Easterbrook   +10 more
wiley   +1 more source

American College of Rheumatology Guidance Statements for Addressing Mental Health Concerns in Youth With Pediatric Rheumatologic Diseases

Arthritis Care &Research, EarlyView.
Objective Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health‐related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.
Natoshia R. Cunningham, Ashley N. Danguecan, Samantha L. Ely, Yaa Amponsah, Alaina Davis, Suzanne Edison, Julia Harris, Jordan T. Jones, Alana Goldstein‐Leever, Alison Manning, Anne McHugh, Crystal Mui, Ekemini Ogbu, Nikki Reitz, Martha Rodriguez, Natalie Rosenwasser, Alyse Tankanow, Erin Treemarcki, Katherine Winner, Tamar B. Rubinstein, Andrea M. Knight, for the CARRA Mental Health Workgroup   +21 more
wiley   +1 more source

Juvenile Idiopathic Arthritis, Earnings, and Work Loss: A Nationwide Matched Cohort Study

Arthritis Care &Research, EarlyView.
Objective This study compares trajectories of earnings and work loss in individuals with juvenile idiopathic arthritis (JIA) versus matched comparators from the general population. Methods Patients with JIA (n = 4,737) were identified in the Swedish National Patient Register (2001–2017) and individually matched to up to five general population ...
Heather Miller, Martin Neovius, Erik Sundberg, Johan Askling, Gustaf Bruze   +4 more
wiley   +1 more source

Barriers and Facilitators for Implementing Resilience Coaching for Youth With Chronic Musculoskeletal Pain: Pediatric Rheumatologists’ Perspectives

Arthritis Care &Research, EarlyView.
Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca, Anyun Chatterjee, Mackenzie McGill, Nellie Butler, Katherine S. Kellom, Jami F. Young, Tonya M. Palermo, Pamela F. Weiss, Abby R. Rosenberg, Peter F. Cronholm   +9 more
wiley   +1 more source

The Potential for Extracellular Vesicles in Nanomedicine: A Review of Recent Advancements and Challenges Ahead

Advanced Biology, EarlyView.
Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi, Anjali Kumari, Samaneh Ghadami, Saqer Al Abdullah, Kristen Dellinger   +4 more
wiley   +1 more source

Soft‐Layered Composites with Wrinkling‐Activated Multi‐Linear Elastic Behavior, Stress Mitigation, and Enhanced Strain Energy Storage

Advanced Engineering Materials, EarlyView.
In this study, exciting new bi‐/multi‐linear elastic behavior of soft elastic composites that accompany the activation of wrinkling in the embedded interfacial layers is analyzed. The new features and performance of these composite materials, including dramatic enhancements in energy storage, can be tailored by the concentration of interfacial layers ...
Narges Kaynia, Nicholas Xuanlai Fang, Mary C. Boyce   +2 more
wiley   +1 more source

On the Rigidity and Mechanical Behavior of Triply Periodic Minimal Surfaces‐Based Lattices: Insights from Extensive Experiments and Simulations

Advanced Engineering Materials, EarlyView.
This study examines the mechanical properties of triply periodic minimal surfaces (TPMS)‐based lattices, analyzing 36 architectures in elastic and plastic regimes. It evaluates the applicability of beam‐based scaling laws to TPMS lattices. Rigidity arises from the alignment of members with the load direction and solid regions preventing rotation.
Lucía Doyle, Humberto Terrones, Carlos González   +2 more
wiley   +1 more source