Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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 +11 more
wiley +1 more source
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
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 +5 more
wiley +1 more source
A new smart dynamic external fixator in the treatment of complex fractures of the proximal interphalangeal joint of the long fingers. [PDF]
Treatment of articular fractures of the proximal interphalangeal (PIP) joint of the hand can be a hard challenge. Ideal treatment should include an anatomic reduction, stable fixation and the possibility of early finger mobilization to prevent joint ...
Galli S., Zarattini G
core +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Treatment of Mallet Finger Deformity with Ring Splint
Mallet finger deformity is the loss of active extension on distal interphalangeal joint and possessing hyperextension deformity on PIP joint. Although there are several treatment alternatives for mallet finger deformity, optimal treatment is unclear.
Zeynep HOŞBAY, Ethem GÜNEREN
doaj +1 more source
Histogram Based Synovitis Scoring System Using Ultrasound Images of Rheumatoid Arthritis [PDF]
Introduction: The gray scale Ultrasound (US) imaging aids in assessing activity of Rheumatoid arthritis condition through classification of synovitis and is able to estimate the disease progression.
RJ Hemalatha, V Vijayabaskarin
doaj +1 more source
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source
The KIT swiss knife gripper for disassembly tasks: a multi-functional gripper for bimanual manipulation with a single arm [PDF]
© 20xx IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new ...
Asfour, Tamim +4 more
core +2 more sources
Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez +12 more
wiley +1 more source
New insights into the impact of neuro-inflammation in rheumatoid arthritis. [PDF]
Rheumatoid arthritis (RA) is considered to be, in many respects, an archetypal autoimmune disease that causes activation of pro-inflammatory pathways resulting in joint and systemic inflammation.
Akasbi +102 more
core +2 more sources

