Results 41 to 50 of about 1,023,457 (221)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Necrotising autoimmune myopathy

open access: yes, 2017
Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
core   +1 more source

Real‐World Safety of Concomitant Colchicine and Statin Therapy

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to evaluate the risk of clinically meaningful muscle‐ and liver‐related outcomes associated with concomitant colchicine–statin therapy in a real‐world setting, and to determine whether concomitant therapy increases the incidence of toxicity compared with either agent alone.
Roni Meidan   +5 more
wiley   +1 more source

Characteristics of metabolic myopathies among Egyptian patients

open access: yesThe Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Metabolic Myopathies are characterized by defect in muscle energy production. The main symptoms are exercise intolerance, fatigue, myalgias, rhabdomyolysis and \or weakness, they present with episodic or fixed manifestations.
Mennat-Allah M. Elgamal   +4 more
doaj   +1 more source

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice

open access: yesDiagnostics
Background/Objectives: Muscle biopsy is traditionally considered a cornerstone in the diagnosis of myopathies. Advances in the clinical and laboratory evaluation of myopathies warrant re-evaluation of the diagnostic yield.
Vera E. A. Kleinveld   +6 more
doaj   +1 more source

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients

open access: yesMolecular Genetics and Metabolism Reports, 2020
Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation
Ioannis Zaganas   +18 more
doaj   +1 more source

The Role of Muscle Biopsy in the Diagnosis of Inflammatory Myopathy

open access: yes, 2009
Muscle biopsies of patients with immune-mediated inflammatory myopathies are characterized by a combination of chronic inflammatory infiltrates and muscle fiber necrosis.
Gultekin, Sakir Humayun   +1 more
core   +1 more source

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

open access: yesAdvanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes   +14 more
wiley   +1 more source

Prevalence and Clinical Characteristics of Diabetic Myopathy in Type 2 Diabetes Mellitus

open access: yesNational Journal of Medical Research
Background: Diabetic myopathy is an under-recognized complication of Type 2 Diabetes Mellitus (T2DM) that significantly contributes to physical disability.
Prabal Singh   +4 more
doaj   +1 more source

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