Background and objectiveDysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.MethodsWe present cross-sectional T1-weighted muscle MRI data from 182 patients with genetically confirmed dysferlinopathies. We have analysed the pattern of muscles involved in the disease using hierarchical analysis and presented it as heatmaps. Results of the MRI scans have been correlated with relevant functional tests for each region of the body analysed.ResultsIn 181 of the 182 patients scanned, we observed muscle pathology on T1-weighted images, with the gastrocnemius medialis and the soleus being the most commonly affected muscles. A similar pattern of involvement was identified in most patients regardless of their clinical presentation. Increased muscle pathology on MRI correlated positively with disease duration and functional impairment.ConclusionsThe information generated by this study is of high diagnostic value and important for clinical trial development. We have been able to describe a pattern that can be considered as characteristic of dysferlinopathy. We have defined the natural history of the disease from a radiological point of view. These results enabled the identification of the most relevant regions of interest for quantitative MRI in longitudinal studies, such as clinical trials.Clinical trial registrationNCT01676077.
Volumetric isotropic turbo spin-echo acquisition magnetic resonance imaging can be used to diagnose DVT with good to excellent agreement compared with CE-MRI and sonography. It might be useful when contrast media is prohibited and in patients with suspected thrombosis of the iliac veins, which can be hard to detect with sonography.
(123)I-MIBG scintigraphy and (18)F-FDG PET showed noticeable differences in their uptake patterns. (18)F-FDG PET was more sensitive and specific for the detection of neuroblastoma lesions. Our findings suggest that a (18)F-FDG PET scan may be useful in the event of discrepant or inconclusive findings on (123)I-MIBG scintigraphy/SPECT and morphological imaging.
• T1-mVISTA leads to significantly higher contrast-to-noise ratios of cerebral malignomas. • T1-mVISTA detects significantly more metastatic lesions compared to 3D-MPRAGE. • Lesions detected only by T1-mVISTA are smaller than those detected in both sequences. • Diagnostic confidence is significantly higher for lesions detected by T1-mVISTA. • Application of T1-mVISTA might be of high relevance in early stages of disease.
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