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About 3,630 results

ALLMedicine™ Myopathies Center

Research & Reviews  1,384 results

The desmin mutation R349P increases contractility and fragility of stem cell-generated ...
https://doi.org/10.1111/nan.12784
Neuropathology and Applied Neurobiology; Spörrer M, Kah D et. al.

Dec 2nd, 2021 - Desminopathies comprise hereditary myopathies and cardiomyopathies caused by mutations in the intermediate filament protein desmin that lead to severe and often lethal degeneration of striated muscle tissue. Animal and single cell studies hinted t...

What Is in the Myopathy Literature?
https://doi.org/10.1097/CND.0000000000000387 10.1007/s10067-021-05797-2 10.1016/j.nmd.2021.04.010
Journal of Clinical Neuromuscular Disease; Lacomis D

Nov 23rd, 2021 - This edition concentrates on inflammatory myopathies with reports of reclassification of polymyositis, cancer associations, evaluation of subclinical cardiac involvement, myositis-specific and -associated antibodies, and immune checkpoint inhibito...

Recognition and Management of Neuromuscular Emergencies.
https://doi.org/10.1016/j.ncl.2021.08.010
Neurologic Clinics; Varadhachary AS

Nov 21st, 2021 - Acute neuromuscular disorders represent an important subset of neurologic consultation requests in the inpatient setting. Although most neuromuscular disorders are subacute to chronic, hospital-based neurologists encounter neuromuscular disorders ...

Immune-mediated necrotizing myopathy (IMNM): A myopathological challenge.
https://doi.org/10.1016/j.autrev.2021.102993
Autoimmunity Reviews; Merlonghi G, Antonini G et. al.

Nov 20th, 2021 - This review is focused on the myopathological spectrum of immune mediated necrotizing myopathies (IMNMs) and its differentiation with other, potentially mimicking, inflammatory and non-inflammatory myopathies. IMNMs are a subgroup of idiopathic in...

Dipeptidyl peptidase 4/CD26 expression in human idiopathic inflammatory myopathies reve...
https://www.ncbi.nlm.nih.gov/pubmed/34796850
Clinical and Experimental Rheumatology; De Lorenzo R, Monno A et. al.

Nov 20th, 2021 - We performed a retrospective and prospective observational study to investigate whether the T lymphocyte activation antigen dipeptidyl peptidase 4 (DPP4)/CD26 is expressed in the skeletal muscle of patients with idiopathic inflammatory myopathies ...

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Guidelines  2 results

2017 European League Against Rheumatism/American College of Rheumatology classification...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736307
Annals of the Rheumatic Diseases; Lundberg IE, Tjärnlund A et. al.

Oct 29th, 2017 - To develop and validate new classification criteria for adult and juvenile idiopathic inflammatory myopathies (IIM) and their major subgroups. Candidate variables were assembled from published criteria and expert opinion using consensus methodolog...

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peri...
https://doi.org/10.1111/j.1468-1331.2010.03069.x
European Journal of Neurology; Burgunder JM, Schöls L et. al.

May 27th, 2010 - These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when ...

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Clinicaltrials.gov  21 results

Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM)
https://clinicaltrials.gov/ct2/show/NCT03867435

Nov 4th, 2021 - Objective: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common inherited skeletal myopathies in adults. RNA toxicity is the core disease mechanism, good molecular targets have been identified and there has been rapid progress in d...

Natural History Study of Patients With Centronuclear Myopathies
https://clinicaltrials.gov/ct2/show/NCT04977648

Oct 19th, 2021 - This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States. The duration of the study, including the enrollment period, ...

Prospective Study to Validate Ablation Parameters With MRI Based Scar for Left Atrial Ablation
https://clinicaltrials.gov/ct2/show/NCT04363307

Jul 12th, 2021 - A critical step to improve atrial fibrillation (AF) ablation broadly is to minimize interoperator variability. VISITAG SURPOINT calculated a marker tag index value by combining contact force, power setting, and duration of energy delivered. Use of...

Association Between Cancer and Anti-synthetase Syndrome
https://clinicaltrials.gov/ct2/show/NCT04941547

Jun 28th, 2021 - Idiopathic inflammatory myopathies area heterogeneous group of disease involving mainly muscles, which paraneoplastic feature has been well characterized, specifically in some subgroups such as dermatomyositis. In contrast, antisynthetase syndrome...

S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM)
https://clinicaltrials.gov/ct2/show/NCT04141670

Jun 24th, 2021 - RYR1- related myopathy comprises a group of rare neuromuscular diseases. Affected individuals generally present with delayed motor milestones, muscle weakness, impaired ambulation, and, in severe cases, scoliosis, ophthalmoplegia, and respiratory ...

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News  43 results

Environmental Factors in Myositis: A Link?
https://www.medpagetoday.com/rheumatology/generalrheumatology/87118

Jun 17th, 2020 - The development of a subtype of inflammatory myopathy characterized by interstitial lung disease and positivity for a specific autoantibody was influenced by seasonality and place of residence, Japanese researchers found. Among patients with polym...

Congenital myasthenic syndrome diagnosed best with repetitive stimulation and jitter analysis
https://www.mdedge.com/neurology/article/210304/neuromuscular-disorders/congenital-myasthenic-syndrome-diagnosed-best?channel=53
Tara Haelle

Oct 17th, 2019 - AUSTIN, TEX. – The use of both repetitive stimulation (RS) and jitter analysis are important for accurate diagnosis of congenital myasthenic syndrome (CMS) suggests newly presented research.

A few pearls can help prepare the mind
https://www.mdedge.com/ccjm/article/208572/immunology/few-pearls-can-help-prepare-mind?channel=325
Brian F. Mandell, MD, PhD

Oct 1st, 2019 - While the amount of knowledge about complex diseases is expanding, the amount of time we can spend face to face with an individual patient—and to read up on his or her problems after the encounter—is shrinking. And while medical care is depending.

Using New Autoantibodies in Rheumatic Disease: An Update
https://www.medscape.com/viewarticle/913168

May 23rd, 2019 - Antibody testing is likely to play an increasingly important role in the practice of rheumatology. The classification of lupus is enabled by antinuclear antibodies, as is rheumatoid arthritis (RA), by employing autoantibodies such as rheumatoid fa...

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Patient Education  2 results see all →