De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Genetics of disease, diagnosis and treatmen

Timing-Invariant Imaging of Collateral Vessels in Acute Ischemic Stroke

Contains fulltext : 116747.pdf (Publisher’s version ) (Closed access)BACKGROUND AND PURPOSE: Although collateral vessels have been shown to be an important prognostic factor in acute ischemic stroke, patients with lack of collaterals on standard imaging techniques may still have good clinical outcome. We postulate that in these cases collateral vessels are present though not visible on standard imaging techniques that are based on a single time frame. METHODS: This study included 40 consecutive patients with acute ischemic stroke with a large-vessel occlusion. Standard computed tomography angiography (CTA, single time frame) and CT perfusion (multiple time frames) were obtained at admission and timing-invariant (TI)-CTA was created from the CT perfusion data. Clinical outcome data (modified Rankin Scale) were assessed at 3-month follow-up. Four experienced observers independently assessed collateral status twice on both standard CTA and TI-CTA in an independent, blinded, randomized manner. Collateral status was rated as good if ≥50\% and poor if <50\% of collaterals were present compared with the contralateral hemisphere. RESULTS: Collateral status was rated higher on TI-CTA (good in 84\%) compared with standard CTA (good in 49\%; P<0.001). Thirty-one percent of patients with poor collateral status on standard CTA still had good clinical outcome. All of those patients, however, showed good collaterals on TI-CTA. All cases with poor collateral status rated on TI-CTA had poor clinical outcome. CONCLUSIONS: Collateral vessels may not always be visible on standard single time-frame CTA because of delayed contrast arrival. Future prognostic studies in acute stroke should consider delay-insensitive techniques, such as TI-CTA, instead of standard single time-frame imaging, such as standard CTA

Timing-Invariant CT Angiography Derived from CT Perfusion Imaging in Acute Stroke: A Diagnostic Performance Study

Contains fulltext : 154307.pdf (publisher's version ) (Open Access)Timing-invariant (or delay-insensitive) CT angiography derived from CT perfusion data may obviate a separate cranial CTA in acute stroke, thus enhancing patient safety by reducing total examination time, radiation dose, and volume of contrast material. We assessed the diagnostic accuracy of timing-invariant CTA for detecting intracranial artery occlusion in acute ischemic stroke, to examine whether standard CTA can be omitted.Patients with suspected ischemic stroke were prospectively enrolled and underwent CTA and CTP imaging at admission. Timing-invariant CTA was derived from the CTP data. Five neuroradiologic observers assessed all images for the presence and location of intracranial artery occlusion in a blinded and randomized manner. Sensitivity and specificity of timing-invariant CTA and standard CTA were calculated by using an independent expert panel as the reference standard. Interrater agreement was determined by using κ statistics.We included 108 patients with 47 vessel occlusions. Overall, standard CTA and timing-invariant CTA provided similar high diagnostic accuracy for occlusion detection with a sensitivity of 96\% (95\% CI, 90\%-100\%) and a specificity of 100\% (99\%-100\%) for standard CTA and a sensitivity of 98\% (95\% CI, 94\%-100\%) and a specificity of 100\% (95\% CI, 100\%-100\%) for timing-invariant CTA. For proximal large-vessel occlusions, defined as occlusions of the ICA, basilar artery, and M1, the sensitivity and specificity were 100\% (95\% CI, 100\%-100\%) for both techniques. Interrater agreement was good for both techniques (mean κ value, 0.75 and 0.76).Timing-invariant CTA derived from CTP data provides diagnostic accuracy similar to that of standard CTA for the detection of artery occlusions in acute stroke

Validation of CT brain perfusion methods using a realistic dynamic head phantom

Item does not contain fulltextPURPOSE: Development and evaluation of a realistic hybrid head phantom for the validation of quantitative CT brain perfusion methods. METHODS: A combination, or hybrid, of CT images of an anthropomorphic head phantom together with clinically acquired MRI brain images was used to construct a dynamic hybrid head phantom. Essential CT imaging parameters such as spatially dependent noise, effects of resolution, tube settings, and reconstruction parameters were intrinsically included by scanning a skull phantom using CT perfusion (CTP) protocols with varying mAs. These data were combined with processed high resolution 7T clinical MRI images to include healthy and diseased brain parenchyma, as well as the cerebral vascular system. Time attenuation curves emulating contrast bolus passage based on perfusion as observed in clinical studies were added. Using the phantom, CTP images were generated using three brain perfusion calculation methods: bcSVD, sSVD, and fit-based deconvolution, and the linearity and accuracy of the three calculation methods was assessed. Dependency of perfusion outcome on calculation method was compared to clinical data. Furthermore, the potential of the phantom to optimize brain perfusion packages was investigated. RESULTS: All perfusion calculation methods showed overestimation of low perfusion values and underestimation of high perfusion values. Good correlation in behavior between phantom and clinical data was found (R2 = 0.84). CONCLUSIONS: A dynamic hybrid head phantom constructed from CT and MRI data was demonstrated to realistically represent clinical CTP studies, which is useful for assessing CT brain perfusion acquisition, reconstruction, and analysis

Potential value of aneurysm sac volume measurements in addition to diameter measurements after endovascular aneurysm repair.

Item does not contain fulltextPURPOSE:To investigate the value of aneurysm sac volume measurement in addition to diameter measurements based on computed tomographic angiography (CTA) after endovascular aneurysm repair (EVAR). METHODS:Interrogation of a vascular database identified 56 patients (51 men; median age 77 years, range 59-92), 28 with an endoleak and 28 without, who had digital CTA data available at baseline (first postoperative scan) and at 1 and 2 years after EVAR. Total aneurysm volume, transverse maximum diameter (TMD), and orthogonal maximum diameter (OMD; perpendicular to the aortic center lumen line) were compared for all patients and between those with and without endoleak. Differences of 5% for volume and 5 mm for diameters were considered a significant change. Kappa statistics were used to compare measurements. RESULTS:Volumetry detected aneurysm growth in 32 (24%) of 131 scans, which was reflected by TMD in 12 (38%) and by OMD in 14 (44%). Eighteen scans with increasing aneurysm volume were measured in patients with endoleaks, which was documented by TMD in 6 (33%) and by OMD in 8 (44%). Fourteen volume increases were measured in patients without endoleak; both TMD and OMD documented only 43%. Volumetry detected aneurysm shrinkage in 71 (54%) of 131 scans [detected by TMD in 38 (54%) and by OMD in 37 (52%)]. Thirty-two volume decreases were measured in patients with an endoleak, noted by TMD in 18 (56%) and OMD in 14 (44%). Thirty-nine scans showed decreasing volumes in patients without endoleaks; the TMD corresponded in 20 (51%) and the OMD in 23 (59%). The kappa agreements for volume increase were 0.42 (TMD) and 0.35 (OMD) and for volume decrease 0.48 (TMD) and 0.47 (OMD); different thresholds of change produced similar moderate-range kappa values (0.3-0.6). CONCLUSION:Volumetry detects sac size changes that are not reflected in diameter measurements. Vice versa, diameters can increase without a total volume increase, which might indicate a variety of morphological aneurysm changes. The agreement between volume and diameter measurements using different cutoff values is equally moderate. Volume measurements should be performed in addition to diameter measurements

Guidance on Imaging for Invasive Pulmonary Aspergillosis and Mucormycosis: From the Imaging Working Group for the Revision and Update of the Consensus Definitions of Fungal Disease from the EORTC/MSGERC.

Clinical imaging in suspected invasive fungal disease (IFD) has a significant role in early detection of disease and helps direct further testing and treatment. Revised definitions of IFD from the EORTC/MSGERC were recently published and provide clarity on the role of imaging for the definition of IFD. Here, we provide evidence to support these revised diagnostic guidelines. We reviewed data on imaging modalities and techniques used to characterize IFDs. Volumetric high-resolution computed tomography (CT) is the method of choice for lung imaging. Although no CT radiologic pattern is pathognomonic of IFD, the halo sign, in the appropriate clinical setting, is highly suggestive of invasive pulmonary aspergillosis (IPA) and associated with specific stages of the disease. The ACS is not specific for IFD and occurs in the later stages of infection. By contrast, the reversed halo sign and the hypodense sign are typical of pulmonary mucormycosis but occur less frequently. In noncancer populations, both invasive pulmonary aspergillosis and mucormycosis are associated with "atypical" nonnodular presentations, including consolidation and ground-glass opacities. A uniform definition of IFD could improve the quality of clinical studies and aid in differentiating IFD from other pathology in clinical practice. Radiologic assessment of the lung is an important component of the diagnostic work-up and management of IFD. Periodic review of imaging studies that characterize findings in patients with IFD will inform future diagnostic guidelines

Comparison of automated 4-chamber cardiac views versus axial views for measuring right ventricular enlargement in patients with suspected pulmonary embolism.

Item does not contain fulltextPURPOSE: Compare the right ventricle to left ventricle (RV/LV) diameter ratio obtained from axial pulmonary CT angiograms (CTPA) with those derived from automatically generated 4-chamber (4-CH) reformats in patients with suspected pulmonary embolism (PE). METHODS: In this institutional review board-approved study we included 120 consecutive non ECG-gated CTPA from 3 institutions (mean age 60 +/- 16 years; 71 women). Twenty 64-slice CTPA with PE and 20 without PE were selected per institution. For each patient the RV/LV diameter ratio was obtained from both axial CTPA images and automatically generated 4-CH reformats. Measurements were performed twice in two separated sessions by 2 experienced radiologists and 2 residents. The differences between the measurements on both views were evaluated. RESULTS: The 4-CH view was successfully obtained in 113 patients. The mean axial and 4-CH diameter ratios were comparable for three of the four readers (p = 0.56, p = 0.13, p = 0.08). Although the mean diameters (1.0 and 1.03 respectively) for one resident were significantly different (p = 0.013), the difference of 0.03 seems negligible in clinical routine. Three readers achieved equally high intra-reader agreements with both measurements (ICCs of 0.94, 0.95 and 0.96), while one reader showed a different variability with ICCs of 0.96 for the axial view and 0.91 for the 4-CH view. The inter-reader agreement was equally high for both measurement types with ICCs of 0.95 and 0.94, respectively. CONCLUSION: In patients with suspected PE, RV/LV diameters ratio can be measured with the same reproducibility and accuracy using an automatically generated 4-CH view compared to the axial view.1 februari 201

Iodine Maps from Subtraction CT or Dual-Energy CT to Detect Pulmonary Emboli with CT Angiography: A Multiple-Observer Study

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"Reply to Hochheggar et al."

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