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12 结果
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy.
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We report a case of birdshot chorioretinopathy (BSCR) in a patient with facioscapulohumeral muscular dystrophy (FSHD). A 40-year-old male with history of facioscapulohumeral muscular dystrophy with significant facial diplegia and lagophthalmos presents for an evaluation of bilateral choroiditis with
BACKGROUND
Facioscapulohumeral muscular dystrophy (FSHD) is associated with a repeat contraction in the D4Z4 gene locus on chromosome 4q35. We used a one-step quantitative magnetic resonance imaging (MRI) method to evaluate muscle, edema, and fat in patients spanning the range of
FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy.
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The genetic lesion that is diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate for a gene whose misexpression might lead to FSHD.
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
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Background: We aimed to define the radiological picture of Facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1, and to explore correlations between imaging and clinical/molecular data.
Muscle inflammation is an important component of disease pathophysiology in several muscular dystrophies. Hyperintensities on MRI sequences with short TI inversion recovery (STIR) reflect edema, or inflammation (STIR+). Conventionally, STIR evaluation has been done by visual inspection. In this
Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.
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BACKGROUND
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity.
METHODS
Two groups of MRI scans were analyzed:
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.
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OBJECTIVE
To assess the overlap of and differences between quantitative muscle MRI and ultrasound in characterizing structural changes in leg muscles of facioscapulohumeral muscular dystrophy (FSHD) patients.
METHODS
We performed quantitative MRI and quantitative ultrasound of ten leg muscles in 27
BACKGROUND
MRI evaluation in facioscapulohumeral muscular dystrophy (FSHD) demonstrates fatty replacement and inflammation/edema in muscle. Our previous work demonstrated short T1 inversion recovery (STIR)-hyperintense (STIR+) signal in muscle 2 years before fatty replacement. We evaluated leg
Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.
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Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD
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Background: Muscle MRI is increasingly used as a diagnostic and research tool in muscle disorders. However, the correlation between MRI abnormalities and histopathological severity is largely unknown.
Quantitative MRI reveals decelerated fatty infiltration in muscles of active FSHD patients.
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OBJECTIVE
To investigate the effects of aerobic exercise training (AET) and cognitive-behavioral therapy (CBT), directed towards an increase in daily physical activity, on the progression of fatty infiltration and edema in skeletal muscles of patients with facioscapulohumeral muscular dystrophy
Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.
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Facioscapulohumeral muscular dystrophy (FSHD) is an untreatable disease, characterized by asymmetric progressive weakness of skeletal muscle with fatty infiltration. Although the main genetic defect has been uncovered, the downstream mechanisms causing FSHD are not understood. The objective of this
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