Temporalis muscle hypertrophy and reduced skull eccentricity in Duchenne muscular dystrophy.

Muscle hypertrophy and muscle weakness are well known in Duchenne muscular dystrophy. Decreased muscle force can have secondary effects on skeletal growth and development such as facial and dental morphology changes. In this study, we quantified temporal muscle thickness, circumference, and eccentricity of the skull and the head on T1-weighted magnetic resonance imaging (MRI) scans of the head of 15 Duchenne muscular dystrophy patients and 15 controls. Average temporal muscle thickness was significantly increased in patients (12.9 ± 5.2 mm) compared to controls (6.8 ± 1.4 mm) (P < .0001), whereas the shape of the skull was significantly rounder compared to controls. Temporal muscle thickness and skull eccentricity were significantly negatively correlated in patients, and positively in controls. Hypertrophy of the temporal muscles and changes in skull eccentricity appear to occur early in the course of Duchenne muscular dystrophy. Further studies in younger patients are needed to confirm a causal relationship.

Magnetization transfer imaging in premanifest and manifest huntington disease: a 2-year follow-up.

BACKGROUND AND PURPOSE: MTI is a quantitative MR imaging technique that has recently demonstrated structural integrity differences between controls and patients with HD. Potentially, MTI can be used as a biomarker for monitoring disease progression. To establish the value of MTI as a biomarker, we aimed to examine the change in these measures during the course of HD. MATERIALS AND METHODS: From the Leiden TRACK-HD study, 25 controls, 21 premanifest gene carriers, and 21 patients with manifest HD participated at baseline and during a 2-year follow-up visit. Brain segmentation of the cortical gray matter, white matter, caudate nucleus, putamen, pallidum, thalamus, amygdala, and hippocampus was performed by using the automated tools FAST and FIRST in FSL. Individual MTR values were calculated from these regions, and MTR histograms were constructed. RESULTS: In the premanifest HD group stage "far from disease onset," a significant increase in MTR peak height of the putamen was observed with time. During the manifest HD stage, neither the mean MTR nor the MTR peak height showed a significant change during a 2-year follow-up. CONCLUSIONS: MTI-derived measures are not suitable for monitoring in Huntington disease during a 2-year period because there was no decrease in structural integrity detected in any of the manifest HD groups longitudinally. The finding of increased putaminal MTR peak height in the premanifest far from disease onset group could relate to a predegenerative process, compensatory mechanisms, or aberrant development but should be interpreted with caution until future studies confirm this finding.

Magnetization transfer imaging in premanifest and manifest Huntington disease.

BACKGROUND AND PURPOSE: MTI has the potential to detect abnormalities in normal-appearing white and gray matter on conventional MR imaging. Early detection methods and disease progression markers are needed in HD research. Therefore, we investigated MTI parameters and their clinical correlates in premanifest and manifest HD. MATERIALS AND METHODS: From the Leiden TRACK-HD study, 78 participants (28 controls, 25 PMGC, 25 MHD) were included. Brain segmentation of cortical gray matter, white matter, caudate nucleus, putamen, pallidum, thalamus, amygdala, and hippocampus was performed using FSL's automated tools FAST and FIRST. Individual MTR values were calculated from these regions and MTR histograms constructed. Regression analysis of MTR measures from all gene carriers with clinical measures was performed. RESULTS: MTR peak height was reduced in both cortical gray (P = .01) and white matter (P = .006) in manifest HD compared with controls. Mean MTR was also reduced in cortical gray matter (P = .01) and showed a trend in white matter (P = .052). Deep gray matter structures showed a uniform pattern of reduced MTR values (P < .05). No differences between premanifest gene carriers and controls were found. MTR values correlated with disease burden and motor and cognitive impairment. CONCLUSIONS: Throughout the brain, disturbances in MTI parameters are apparent in early HD and are homogeneous across white and gray matter. The correlation of MTI with clinical measures indicates the potential to act as a disease monitor in clinical trials. However, our study does not provide evidence for MTI as a marker in premanifest HD.

Deficient sustained attention to response task and P300 characteristics in early Huntington's disease.

Evidence for the extent and nature of attentional impairment in premanifest and manifest Huntington's disease (HD) is inconsistent. Understanding such impairments may help to better understand early functional changes in HD and could have consequences concerning care for HD patients. We investigated attentional control in both early and premanifest HD. We studied 17 early HD subjects (mean age: 51 years), 12 premanifest HD subjects (mean age: 43 years), and 15 healthy controls (mean age: 51 years), using the sustained attention to response task (SART), a simple Go/No-go test reflecting attentional and inhibitory processes through reaction time (RT) and error rates. Simultaneously recorded EEG yielded P300 amplitudes and latencies. The early HD group made more Go errors (p < 0.001) and reacted slower (p < 0.005) than the other groups. The RT pattern during the SART was remarkably different for early HD subjects compared to the other two groups (p < 0.005), apparent as significant post-error slowing. P300 data showed that for early HD the No-go amplitude was lower than for the other two groups (p < 0.05). Subjects with early HD showed a reduced capacity to effectively control attention. They proved unable to resume the task directly after having made an error, and need more time to return to pre-error performance levels. No attentional control deficits were found for the premanifest HD group.

Shape analysis of subcortical nuclei in Huntington's disease, global versus local atrophy--results from the TRACK-HD study.

Huntington's disease (HD) is characterized by brain atrophy. Localized atrophy of a specific structure could potentially be a more sensitive biomarker reflecting neuropathologic changes rather than global volume variation. We examined 90 TRACK-HD participants of which 30 were premanifest HD, 30 were manifest HD and 30 were controls. Using FMRIB's Integrated Registration and Segmentation Tool, segmentations were obtained for the pallidum, caudate nucleus, putamen, thalamus, accumbens nucleus, amygdala, and hippocampus and overall volumes were calculated. A point distribution model of each structure was obtained using Growing and Adaptive Meshes. Permutation testing between groups was performed to detect local displacement in shape between groups. In premanifest HD overall volume loss occurred in the putamen, accumbens and caudate nucleus. Overall volume reductions in manifest HD were found in all subcortical structures, except the amygdala, as compared to controls. In premanifest HD shape analysis showed small areas of displacement in the putamen, pallidum, accumbens and caudate nucleus. When the premanifest group was split into two groups according to predicted disease onset, the premanifest HD group close to expected disease onset showed more pronounced displacements in caudate nucleus and putamen compared to premanifest HD far from disease onset or the total premanifest group. Analysis of shape in manifest HD showed widespread shape differences, most prominently in the caudal part of the accumbens nucleus, body of the caudate nucleus, putamen and dorsal part of the pallidum. We conclude that shape analysis provides new insights in localized intrastructural atrophy patterns in HD, but can also potentially serve as specific target areas for disease tracking.

Gastrointestinal complications following cardiac surgery. An analysis of 1477 cardiac surgery patients.

OBJECTIVE: To determine preoperative and perioperative risk factors for gastrointestinal (GI) complications following cardiac surgery. DESIGN: A database including records of patients who underwent cardiac surgery was reviewed, with univariate analysis of several variables thought to be relevant to GI complications. Using a risk-adjusted model, preoperative stratification was used to fit a logistic regression model including operative features. SETTING AND PATIENTS: All patients undergoing cardiac surgery from January 1, 1991, to December 31, 1994, at a university-affiliated teaching hospital. MAIN OUTCOME MEASURES: Incidence of GI complications, postoperative mortality, length of hospital stay, and relative risk of GI complications based on multivariate analyses. RESULTS: Gastrointestinal complications occurred in 2.1% of patients and had an associated mortality of 19.4%; this was higher than the mortality in patients without GI complications (4.1%; P < .001). Length of hospital stay was significantly longer in patients with GI complications (43 vs 13.4 days; P < .001). In patients who underwent coronary artery bypass grafting only, cardiopulmonary bypass time was significantly longer in patients with GI complications (166 vs 138 minutes; P = .004). In patients who underwent valve replacement, bypass time was not associated with GI complications. Use of a left internal mammary artery graft was associated with a lower incidence of GI complications. CONCLUSIONS: Patients who have GI complications after cardiac surgery have a higher mortality and a longer hospital stay. The use of a left internal mammary artery seems to have a protective effect against GI complications. Based on these observations, patients may be stratified into low-, medium-, and high-risk groups.

A comparison of four severity-adjusted models to predict mortality after coronary artery bypass graft surgery.

OBJECTIVE: To assess the validity of four severity-adjusted models to predict mortality following coronary artery bypass graft surgery by using an independent surgical database. DESIGN: A prospective observational study wherein predicted mortality for each patient was obtained by using four different published severity-adjusted models. SETTING: A university-affiliated teaching community hospital. PATIENTS: Eight hundred sixty-eight consecutive patients who underwent coronary artery bypass graft surgery without accompanying valve or aneurysm repair during the period from 1991 to 1993. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Predicted mortality rates for each model were obtained by averaging individual patient predictions and were compared with actual morality rates. We assessed the accuracy of overall prediction for the total series, as well as compared individual patient predictions created by each model. The discrimination of models was assessed with receiver operating characteristic curves and the Hosmer-Lemeshow goodness-of-fit statistic. RESULTS: The observed crude mortality rate was 3.7%. The predicted mortality rate ranged from 2.8% to 9.2%, despite relatively good discrimination by the models (area under the receiver operating characteristic curve, 0.70 to 0.74). The individual patient mortality predicted by different models varied by as much as a ninefold difference. CONCLUSIONS: The currently used coronary artery bypass graft predictive models, although generally accurate, have significant shortcomings and should be used with caution. The predicted mortality rate following coronary artery bypass graft surgery varied by a factor of 3.3 from lowest to highest, making the choice of model a critical factor when assessing outcome. The use of these models for individual patient risk estimations is risky because of the marked discrepancies in individual predictions created by each model.