Mutations in POLG cause a recessively inherited syndrome with episodic features and progressive ataxia. Characteristic changes on MRI are seen and although skeletal muscle may appear morphologically normal, multiple mtDNA deletions can be detected using real-time PCR.

Our randomized controlled trial revealed a similar rate of prostate cancer detection between targeted biopsy guided by magnetic resonance imaging (MRI) and transrectal ultrasound (TRUS) and 12-core random biopsy. The traditional 12-core random biopsy may be replaced by two-core MRI/TRUS targeted biopsy for detection of clinically significant prostate cancer.

Our aim was to characterise and classify structural changes in the alar ligaments in the late stage of whiplash injuries by use of a new MRI protocol, and to evaluate the reliability and the validity of this classification. We studied 92 whiplash-injured and 30 uninjured individuals who underwent proton density-weighted MRI of the craniovertebral junction in three orthogonal planes. Changes in the alar ligaments (grades 0-3) based on the ratio between the high signal area and the total cross-sectional area were rated twice at a 4-month interval, independently by three radiologists. Inter- and intraobserver statistics were calculated by ordinary and weighted kappa. Cases classified differently were reviewed to identify potential causes for disagreement. The alar ligaments were satisfactorily demonstrated in all cases (244 ligaments in 122 individuals). The lesions, 2-9 years after the injury, varied from small high-signal spots to high signal throughout the cross-sectional area. Signal was highest near the condylar insertion in 82 of 94 ligaments, indicating a lesion near that insertion, and near the dental insertion in eight, indicating a medial lesion. No grade 2 or 3 lesion was found in the control group. At least two observers assigned the same grade to 214 ligaments (87.7%) on the second occasion. In 30 ligaments (12.3%) this agreement was not obtained. Pair-wise interobserver agreement (weighted kappa) was fair to moderate (0.31-0.54) in the first grading, improving to moderate (0.49-0.57) in the second. Intraobserver agreement (weighted kappa) was moderate to good (0.43-0.70). Whiplash trauma can cause permanent damage to the alar ligaments, which can be shown by high-resolution proton density-weighted MRI. Reliability of classification of alar ligament lesions needs to be improved.

Objectives: In this volumetric study of the vestibular schwannoma, we evaluated the accuracy and reliability of several approximation methods that are in use, and determined the minimum volume difference that needs to be measured for it to be attributable to an actual difference rather than a retest error. We also found empirical proportionality coefficients for the different methods. Design ⁄ setting and participants: Methodological study with investigation of three different VS measurement methods compared to a reference method that was based on serial slice volume estimates. These volume estimates were based on: (i) one single diameter, (ii) three orthogonal diameters or (iii) the maximal slice area. Altogether 252 T1-weighted MRI images with gadolinium contrast, from 139 VS patients, were examined. Main outcome measures: The retest errors, in terms of relative percentages, were determined by undertaking repeated measurements on 63 scans for each method. Intraclass correlation coefficients were used to assess the agreement between each of the approximation methods and the reference method. The tendency for approximation methods to systematically overestimate ⁄ underestimate different-sized tumours was also assessed, with the help of Bland-Altman plots. Results: The most commonly used approximation method, the maximum diameter, was the least reliable measurement method and has inherent weaknesses that need to be considered. This includes greater retest errors than area-based measurements (25% and 15%, respectively), and that it was the only approximation method that could not easily be converted into volumetric units. Area-based measurements can furthermore be more reliable for smaller volume differences than diameter-based measurements. Conclusions: All our findings suggest that the maximum diameter should not be used as an approximation method. We propose the use of measurement modalities that take into account growth in multiple dimensions instead.

Mutations in the catalytic subunit of the mitochondrial DNA-polymerase gamma cause a wide spectrum of clinical disease ranging from infantile hepato-encephalopathy to juvenile/adult-onset spinocerebellar ataxia and late onset progressive external ophthalmoplegia. Several of these syndromes are associated with an encephalopathy that characteristically shows episodes of rapid neurological deterioration and the development of acute cerebral lesions. The purpose of this study was to investigate the nature, distribution and natural evolution of central nervous system lesions in polymerase gamma associated encephalopathy focusing particularly on lesions identified by magnetic resonance imaging. We compared radiological, electrophysiological and pathological findings where available to study potential mechanisms underlying the episodes of exacerbation and acute cerebral lesions. We studied a total of 112 magnetic resonance tomographies and 11 computed tomographies in 32 patients with polymerase gamma-encephalopathy, including multiple serial examinations performed during both the chronic and acute phases of the disease and, in several cases, magnetic resonance spectroscopy and serial diffusion weighted studies. Data from imaging, electroencephalography and post-mortem examination were compared in order to study the underlying disease process. Our findings show that magnetic resonance imaging in polymerase gamma-related encephalopathies has high sensitivity and can identify patterns that are specific for individual syndromes. One form of chronic polymerase gamma-encephalopathy, that is associated with the c.1399G > A and c.2243G > C mutations, is characterized by progressive cerebral and cerebellar atrophy and focal lesions of the thalamus, deep cerebellar structures and medulla oblongata. Acute encephalopathies, both infantile and later onset, show similar pictures with cortical stroke-like lesions occurring during episodes of exacerbation. These lesions can occur both with and without electroencephalographic evidence of concurrent epileptic activity, and have diffusion, spectroscopic and histological profiles strongly suggestive of neuronal energy failure. We suggest therefore that both infantile and later onset polymerase gamma related encephalopathies are part of a continuum.

Whiplash trauma can damage the transverse ligament. By use of high-resolution proton-weighted MR images such lesions can be detected and classified. The reliability of this classification still needs improvement.

Our aim was to characterise and classify permanent structural changes in the tectorial and posterior atlanto-occipital membranes several years after a whiplash injury, and to evaluate the reliability of our classification. We obtained sagittal proton density-weighted images of the craniovertebral junction of 92 whiplash-injured and 30 uninjured individuals. Structural abnormalities in the two membranes were classified as grades 1-3 independently by three radiologists blinded for clinical information. Grading criteria were based on reduced tectorial membrane thickness, and elongation or rupture of the posterior atlanto-occipital membrane/dura mater complex. The same images were reassessed 4 months later. Image quality was graded good in 104 cases, slightly reduced in 13 and unsatisfactory in five. Of 117 tectorial membranes 31 (26.5%) showed grade 2 or 3 lesions, in the uninjured group none were grade 3 and only three were grade 2. Pair-wise interobserver agreement (weighted kappa) was moderate (0.47-0.50), while the intraobserver agreement was moderate to good (0.51-0.70). Of 117 posterior atlanto-occipital membranes 20 (17.1%) had grade 2 or 3 lesions; there was no grade 3 and only one grade 2 lesion in the uninjured group. Inter- and intraobserver agreement was good (0.61-0.74 and 0.65-0.86, respectively). Reduced image quality was the main reason for disagreement, but partial thinning and lateral tapering, as normal tectorial membrane variations, created difficulties in some cases. This study strongly indicates that whiplash trauma can damage the tectorial and posterior atlanto-occipital membranes; this can be shown on high-resolution MRI. Better knowledge of normal anatomical variations and improved image quality should increase the reliability of lesion classification.

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