Results 91 to 100 of about 65,396 (285)

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian   +9 more
wiley   +1 more source

Mixed connective tissue disease.

open access: yesThe Western journal of medicine, 1980
A study was done that involved 46 patients with high-titer serum antibody to ribonucleoprotein (RNP). Common cutaneous manifestations included swollen hands or sclerodactyly (50 percent), cutaneous lupus erythematosus (48 percent), periungual telangiectasia (46 percent), alopecia (46 percent), dyspigmentation (28 percent), photosensitivity (28 percent)
openaire   +3 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

Heart Full of Autoimmunity: A Case Report and Review of Literature

open access: yesIndian Journal of Clinical Cardiology
Pericardial disorders in connective tissue diseases (CTD) are common and may present as acute or chronic pericarditis. Their presentation as cardiac tamponade is rare.
Supreet Patil   +3 more
doaj   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu   +10 more
wiley   +1 more source

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

open access: yesArthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli   +8 more
wiley   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

open access: yesArthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla   +13 more
wiley   +1 more source

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