Results 121 to 130 of about 858,413 (284)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Preferences for post‐traumatic osteoarthritis prevention strategies in individuals with anterior cruciate ligament injury

Arthritis Care &Research, Accepted Article.
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy, Lily Waddell, Adam Easterbrook, Jeffrey N. Katz, Cale Jacobs, Morgan Jones, Faith Selzer, Elena Losina, Liana Fraenkel, Nick Bansback   +9 more
wiley   +1 more source

Joining Methods Applied to Sintered Aluminium Products [PDF]

, 1966
A major problem in the joining of dispersion-strengthened materials is to prevent destruction of the specific distribution of dispersed particles and thus avoid a decrease in high-temperature strength. The gas content may be another important factor since the presence of a large amount of gas in the material is likely to result in a porous welding zone.
Aastrup, P., Moe, A., Knudsen, P.
openaire  

Diffusion‐Weighted Imaging for the Evaluation of the Sacroiliac Joint in Pediatric Patients

Arthritis Care &Research, EarlyView.
Objective Maturational signal in the sacroiliac joint (SIJ) of skeletally immature youth is often misinterpreted as inflammation. Diagnostic tools that improve specificity are greatly needed. Apparent diffusion coefficient (ADC) values from diffusion‐weighted imaging (DWI), when used with standard imaging, may enhance diagnostic accuracy.
Michael L. Francavilla, Timothy G. Brandon, Dmitry Khrichenko, Rui Xiao, Nancy A. Chauvin, Asef Khwaja, Pamela F. Weiss   +6 more
wiley   +1 more source

Use of a Molecular Signature Response Classifier to Inform Treatment Selection Improves Clinical Disease Activity Among Patients with Rheumatoid Arthritis Initiating a Biologic or Targeted Synthetic Disease‐Modifying Antirheumatic Drug

Arthritis Care &Research, EarlyView.
Objective We assessed the effectiveness of PrismRA to improve clinical outcomes among patients with rheumatoid arthritis (RA) initiating treatment with a biologic or targeted synthetic disease‐modifying antirheumatic drug (b/tsDMARD). Methods PrismRA incorporated 19 gene expression features and four clinical features to assess a patient's likelihood of
Fenglong Xie, Timothy Beukelman, Nicholas P. McCormick, Jeffrey R. Curtis   +3 more
wiley   +1 more source

Integrating Patient‐Reported Quality Measures in SLE: Development of the American College of Rheumatology Implementation Guide

Arthritis Care &Research, Accepted Article.
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcomes measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semi‐structured interviews ...
Catherine Nasrallah, Cherish Wilson, Christine Hariz, Christie M Bartels, Shanthini Kasturi, Wambui Machua, Amy Bennett, Kate Chiseri, Allison Plitman, Starla Hairston Blanks, April Jorge, Patti Katz, Jinoos Yazdany, Shivani Garg   +13 more
wiley   +1 more source

Evaluation of the Potential of Laser Shock Peening Compared with Cold Expansion for Improving Fatigue Resistance of Riveted Lap Joints of Aerospace Grade 7175 Al Alloy

Advanced Engineering Materials, EarlyView.
This study investigates laser shock peening for enhancing fatigue performance of riveted aerospace aluminum joints. A comparative approach with cold expansion combines fatigue testing and synchrotron X‐ray methods. Integrating mechanical testing with residual stress and strain characterization provides insights into how different treatments affect the ...
Ogün Baris Tapar, David Osman Busse, Maximilian Sprengel, Domenico Furfari, Marc‐André Nielsen, Guilherme Abreu Faria, Jérémy Epp   +6 more
wiley   +1 more source

Innovating Aircraft Repair Processes: The Role of Digitalization in Sustainability

Advanced Engineering Materials, EarlyView.
This research explores how digitalization—by storing detailed non‐destructive testing data in structured DICONDE databases and creating a standard data model of the component—innovates aviation maintenance and repair processes. Coupled with a developed state‐based simulation model, it enables data‐driven, sustainable repair strategies that reduce waste,
Johanna Aigner, Geo Jacob, Florian Raddatz, Gerko Wende   +3 more
wiley   +1 more source