About 3,298 results

ALLMedicine™ Myopathies Center

Research & Reviews  1,274 results

3D Whole-Body MRI of the Musculoskeletal System.
Seminars in Musculoskeletal Radiology; Pasoglou V, Van Nieuwenhove S et. al.

Sep 22nd, 2021 - With its outstanding soft tissue contrast, spatial resolution, and multiplanar capacities, magnetic resonance imaging (MRI) has become a widely used technique. Whole-body MRI (WB-MRI) has been introduced among diagnostic methods for the staging an...

Survival and associated comorbidities in inclusion body myositis.
Rheumatology (Oxford, England); Naddaf E, Shelly S et. al.

Sep 18th, 2021 - To evaluate survival and associated comorbidities in inclusion body myositis (IBM) in a population-based, case-control study. We utilized the expanded-Rochester Epidemiology Project medical records-linkage system, including 27 counties in Minnesot...

Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a p...
Molecular Genetics & Genomic Medicine; Shillington A, Zea Vera A et. al.

Sep 17th, 2021 - Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies. Congenital myopathy presents a diagnostic challenge due to the need for multiple testing moda...

Consumer-based activity trackers in evaluation of physical activity in myositis patients.
Rheumatology (Oxford, England); Saygin D, Rockette-Wagner B et. al.

Sep 17th, 2021 - Inflammatory myopathies are characterized by muscle weakness that limit activities of daily living. Daily step count is an accepted metric of physical activity. Wearable technologies such as Fitbit® enable tracking of daily step counts. We assesse...

Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A ...
The American Journal of Case Reports; Hooshmand SJ, Govindarajan R et. al.

Sep 17th, 2021 - BACKGROUND Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In t...

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Guidelines  2 results

2017 European League Against Rheumatism/American College of Rheumatology classification...
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...
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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News  42 results

Congenital myasthenic syndrome diagnosed best with repetitive stimulation and jitter analysis
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
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

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...

Anti-TIF1-Ab-Positive Dermatomyositis Linked to Higher Cancer Risk

Dec 13th, 2018 - Action Points Anti-TNF1-Ab positive dermatomyositis (DM) is linked to an elevated risk of cancer, especially ovarian cancer. This risk is present approximately 3 years on either side of DM onset. The link between DM and cancer is present for patie...

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Patient Education  1 results see all →