Results 41 to 50 of about 159,171 (308)
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang +7 more
wiley +1 more source
Indian Journal of Pathology and Microbiology, 2019 Background: Juvenile idiopathic inflammatory myopathies (JIIM) are rare and heterogeneous. Subtype identification is important for treatment. Materials and Methods: Patients below 18 years diagnosed as idiopathic inflammatory myopathy (IIM) according to ...
Sundaram Challa +7 more
doaj +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Arthritis Care &Research, EarlyView.Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry +2 more
wiley +1 more source
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
Annals of Indian Academy of Neurology, 2012 Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive
Subasree Ramakrishnan +2 more
doaj +1 more source
Muscle involvement in leprosy: study of the anterior tibial muscle in 40 patients [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The involvement of skeletal striated muscle in leprosy is considered secondary due to peripheral neuropathy, but some studies point it to a primary muscle lesion.
LINEU CESAR WERNECK +2 more
doaj +1 more source
Advanced Biology, EarlyView.Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi +4 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This review highlights recent advances in microfluidic technologies for modeling human aging and age‐related diseases. It explores how organ‐on‐chip platforms improve physiological relevance, enable rejuvenation strategies, facilitate drug screening, detect senescent cells, and identify biomarkers.
Limor Zwi‐Dantsis +5 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Biomimetic, suturable, biodegradable fibrous scaffolds are engineered to mimic the tensile properties of LUT tissue using photocrosslinked 5:5% weight per volume elastin‐like peptide and methacrylated gelatin (5E5G). In vitro, urothelium, smooth muscle, and fibroblast 7 day cytocompatibility is demonstrated.
Renea M. Sturm +18 more
wiley +1 more source
Neurosurgical Intervention for Nerve and Muscle Biopsies
Diagnostics(1) Background: Neurologic and musculoskeletal diseases represent a considerable portion of the underlying etiologies responsible for the widely prevalent symptoms of pain, weakness, numbness, and paresthesia.
Ali A. Mohamed +5 more
doaj +1 more source