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Recent technical developments in high-field MRI have enabled high-resolution imaging of the whole spine within clinically acceptable times. However, analysis of such data requires intensity inhomogeneity correction and volume stitching, both of which are typically performed manually. In this work, an automated method for reconstruction of the complete spine from multistation 7T MR data is presented. The method consists of a number of image processing steps, in particular intensity inhomogeneity correction and image registration for recovery of unknown interscan bed translations, which result in high-quality spine volume reconstructions. The registration performance of the developed algorithm was validated on 18 datasets acquired in two or three stations. In all the test cases, our algorithm was able to produce correct reconstruction of the spine volume. The resulting mean registration error (0.53 mm) is found to be lower than the pixel size, demonstrating robustness and accuracy of the proposed method. Magn Reson Med, 2012. © 2012 Wiley Periodicals, Inc.

Several genes involved in the familial appearance of thoracic aortic aneurysms and dissections (FTAAD) have been characterized recently, one of which is SMAD3. Mutations of SMAD3 cause a new syndromic form of aortic aneurysms and dissections associated with skeletal abnormalities. We discovered a small interstitial deletion of chromosome 15, leading to disruption of SMAD3, in a boy with mild mental retardation, behavioral problems and revealed features of the aneurysms-osteoarthritis syndrome (AOS). Several family members carried the same deletion and showed features including aortic aneurysms and a dissection. This finding demonstrates that haploinsufficiency of SMAD3 leads to development of both thoracic aortic aneurysms and dissections, and the skeletal abnormalities that form part of the aneurysms-osteoarthritis syndrome. Interestingly, the identification of this familial deletion is an example of an unanticipated result of a genomic microarray and led to the discovery of important but unrelated serious aortic disease in the proband and family members.

PURPOSE: To compare different lipid multipeak spectral models to the single-peak model in Dixon-based fat-water separation and to evaluate differences between visually scored magnetic resonance (MR) images and quantitatively assessed fat fractions in muscle of Duchenne muscular dystrophy patients. MATERIALS AND METHODS: T1-weighted and 3-point Dixon imaging of the upper and lower leg was performed in 13 Duchenne patients and six healthy controls. Three-, four-, and five-peak lipid spectrum models were compared to a single-peak model and to each other. T1-weighted images were visually scored by two radiologists and quantitative fat fractions were obtained from Dixon images. RESULTS: Differences between the multipeak spectral models were minimal. The three-peak model was used for subsequent comparisons. Although there was high correlation between quantitative and visual scores, visual scores were consistently higher than quantitative values of the same muscles. CONCLUSION: There are minor differences between the various lipid spectral models in terms of quantifying fat fraction in a large number of skeletal muscles in the legs of Duchenne patients and healthy controls. Quantitative 3-point Dixon MRI is more precise and reliable than visual radiological methods for evaluation of fat fractions for potential longitudinal follow-up or therapy evaluation of Duchenne patients. J. Magn. Reson. Imaging 2013;. © 2013 Wiley Periodicals, Inc.

Objective. To analyse whether MRI of upper and lower extremity muscles in a large patient group with sporadic IBM (sIBM) is of additional value in the diagnostic work-up of sIBM. Methods. Thirty-two sIBM patients were included. Magnetic resonance (MR) parameters evaluated in 68 muscles of upper and lower extremity were muscle atrophy, fatty infiltration and inflammation. These findings were correlated with disease duration, weakness and serum creatine kinase (sCK) levels. Results. Fatty infiltration was far more common than inflammation. Muscles most frequently infiltrated with fat were the flexor digitorum profundus (FDP), anterior muscles of the upper leg and all muscles of the lower leg, preferentially the medial part of the gastrocnemius. The rectus femoris was relatively spared compared with other quadriceps muscles as well as the adductors of the upper leg. Inflammation was common in general, but individually sparse, present in 78% of the patients with a median of two inflamed muscles per patient. A statistically significant correlation was found between the amount of fatty infiltration and disease severity, disease duration and sCK. Conclusion. We provide a detailed description of the MRI in sIBM and show a distinct pattern of muscle involvement. Relatively severe affliction of the medial compartment of the gastrocnemius, combined with relative sparing of the rectus femoris or involvement of the FDP can be indicative of sIBM. MRI can contribute to the diagnosis in selected patients with clear clinical suspicion, but lacking the mandatory set of muscle biopsy features.