Results 121 to 130 of about 237,895 (266)
Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li +17 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.
Timothy S. H. Kwok +7 more
wiley +1 more source
Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns
Arthritis Care &Research, EarlyView.Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki +6 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objective For cartilage morphology to serve as a scalable endpoint in clinical trials, analyses should be performed automatically without human interaction. To clinically validate artificial intelligence (AI)‐based analysis, we studied cartilage loss from MRI prior to knee replacement.
Felix Eckstein +3 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Biomedical research involving US veterans continues to advance health care beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both veteran ...
Austin M. Wheeler +20 more
wiley +1 more source
Automated Hand Flexor Tendon–Thickness Measurement in Systemic Sclerosis
Arthritis Care &Research, EarlyView.Objective Systemic sclerosis (SSc) can affect flexor tendons, contributing to hand function problems and reduced quality of life. Tendon changes are currently assessed with ultrasonography and measured manually, a time‐consuming process prone to interobserver variability.
Mark Greveling +4 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli +13 more
wiley +1 more source