Results 181 to 190 of about 16,885,849 (273)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß   +22 more
wiley   +1 more source

Associations Between Biomarkers of Alzheimer's Disease and Sleep in Cognitively Unimpaired Older Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter   +5 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo   +11 more
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis 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

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

open access: yesArthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo   +9 more
wiley   +1 more source

Engagement Patterns With an Artificial Intelligence Health Coach for Systemic Sclerosis Self‐Management: A Mixed Methods Study

open access: yesArthritis Care &Research, EarlyView.
Objective To evaluate utility of an artificial intelligence (AI) health coach for systemic sclerosis (SSc) self‐management and identify patterns associated with participant engagement. Methods We conducted a mixed methods study in which an AI health coach, powered by a large language model (LLM), was used to support self‐management for SSc.
Nirali Shah   +4 more
wiley   +1 more source

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