ABSTRACT
OBJECTIVE: To characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS). METHODS: Skeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR) images, T1 and T2 mapping, and 1H-MRS. Measures evaluated included longitudinal relaxation time (T1), transverse relaxation time (T2), and 1H-MRS fat fraction (FF). Thigh muscle volume was correlated with relevant measures of strength, function, and patient-reported outcomes. RESULTS: The cohort was representative of a wide range of disease progression. Contractile thigh muscle volume ranged from 5.51% to 62.95% and correlated with thigh strength (r = 0.91), the 6-minute walk test (r = 0.82), the adult myopathy assessment tool (r = 0.83), the activities-specific balance confidence scale (r = 0.65), and the inclusion body myositis functional rating scale (r = 0.62). Four stages of muscle involvement were distinguished by qualitative (T1W and STIR images) and quantitative methods: stage I: unaffected muscle (T1 = 1,033 ± 74.2 ms, T2 = 40.0 ± 1.9 ms, FF = 7.4 ± 3.5%); stage II: STIR hyperintense muscle with minimal or no fat infiltration (T1 = 1,305 ± 147 ms, T2 = 50.2 ± 3.5 ms, FF = 27.6 ± 12.7%); stage III: fat infiltration and STIR hyperintensity (T1 = 1,209 ± 348 ms, T2 = 73.3 ± 12.6 ms, FF = 57.5 ± 10.6%); and stage IV: complete fat replacement (T1 = 318 ± 39.9 ms, T2 = 114 ± 21.2 ms, FF = 85.6 ± 4.2%). 1H-MRS showed a significant decrease in intramyocellular lipid and trimethylamines between stage I and II, suggesting altered muscle metabolism at early stages. CONCLUSION: MRI biomarkers can monitor muscle involvement and determine disease severity noninvasively in patients with GNE myopathy. CLINICALTRIALSGOV IDENTIFIER: NCT01417533.
Subject(s)
Distal Myopathies/diagnostic imaging , Lipid Metabolism , Muscle Strength , Muscle, Skeletal/diagnostic imaging , Adult , Aged , Disease Progression , Distal Myopathies/metabolism , Distal Myopathies/pathology , Distal Myopathies/physiopathology , Female , Hamstring Muscles/diagnostic imaging , Hamstring Muscles/metabolism , Hamstring Muscles/pathology , Hamstring Muscles/physiopathology , Humans , Leg , Lipids , Magnetic Resonance Imaging , Male , Middle Aged , Multienzyme Complexes/genetics , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Organ Size , Patient Reported Outcome Measures , Proton Magnetic Resonance Spectroscopy , Quadriceps Muscle/diagnostic imaging , Quadriceps Muscle/metabolism , Quadriceps Muscle/pathology , Severity of Illness Index , Thigh , Walk Test , Young AdultABSTRACT
Our current study was undertaken in order to compare CT exposures during various dose-reduction initiatives at the National Institutes of Health Clinical center, to show trends in exposure reduction over a 5-y period, and to provide benchmarks that other facilities may use. Using an in-house extraction tool (Radiation Exposure Extraction Engine), we derived CT exposure data from Digital Imaging and Communications in Medicine (DICOM) headers over 5 y. We present parameters used and compare most common exams between 2010 and 2015. During a period of exposure-reduction initiatives, data of 79 396 exams from nine CT scanners on 87 scan protocols were analyzed. Adult chest exposures were reduced 53% and chest, abdomen and pelvis exams were reduced 43% (p < 0.001). Only extremity exams did not show significantly reduced exposure. Collecting data over several years allowed us to confirm and compare several initiatives. We demonstrated significant exposure reductions during continued reduction efforts on common exams. Our results may provide benchmarks for similar centers.
