Comparing self-reported ethnicity to genetic background measures in the context of the Multi-Ethnic Study of Atherosclerosis (MESA)

<p>Abstract</p> <p>Background</p> <p>Questions remain regarding the utility of self-reported ethnicity (SRE) in genetic and epidemiologic research. It is not clear whether conditioning on SRE provides adequate protection from inflated type I error rates due to population stratification and admixture. We address this question using data obtained from the Multi-Ethnic Study of Atherosclerosis (MESA), which enrolled individuals from 4 self-reported ethnic groups. We compare the agreement between SRE and genetic based measures of ancestry (GBMA), and conduct simulation studies based on observed MESA data to evaluate the performance of each measure under various conditions.</p> <p>Results</p> <p>Four clusters are identified using 96 ancestry informative markers. Three of these clusters are well delineated, but 30% of the self-reported Hispanic-Americans are misclassified. We also found that MESA SRE provides type I error rates that are consistent with the nominal levels. More extensive simulations revealed that this finding is likely due to the multi-ethnic nature of the MESA. Finally, we describe situations where SRE may perform as well as a GBMA in controlling the effect of population stratification and admixture in association tests.</p> <p>Conclusions</p> <p>The performance of SRE as a control variable in genetic association tests is more nuanced than previously thought, and may have more value than it is currently credited with, especially when smaller replication studies are being considered in multi-ethnic samples.</p

Imaging in population science: cardiovascular magnetic resonance in 100,000 participants of UK Biobank - rationale, challenges and approaches

PMCID: PMC3668194SEP was directly funded by the National Institute for Health Research Cardiovascular Biomedical Research Unit at Barts. SN acknowledges support from the Oxford NIHR Biomedical Research Centre and from the Oxford British Heart Foundation Centre of Research Excellence. SP and PL are funded by a BHF Senior Clinical Research fellowship. RC is supported by a BHF Research Chair and acknowledges the support of the Oxford BHF Centre for Research Excellence and the MRC and Wellcome Trust. PMM gratefully acknowledges training fellowships supporting his laboratory from the Wellcome Trust, GlaxoSmithKline and the Medical Research Council

Motion-Compensation Techniques in Neonatal and Fetal MR Imaging

Fetal and neonatal MR imaging is increasingly used as a complementary diagnostic tool to sonography. MR imaging is an ideal technique for imaging fetuses and neonates because of the absence of ionizing radiation, the superior contrast of soft tissues compared with sonography, the availability of different contrast options, and the increased FOV. Motion in the normally mobile fetus and the unsettled, sleeping, or sedated neonate during a long acquisition will decrease image quality in the form of motion artifacts, hamper image interpretation, and often necessitate a repeat MR imaging to establish a diagnosis. This article reviews current techniques of motion compensation in fetal and neonatal MR imaging, including the following: 1) motion-prevention strategies (such as adequate patient preparation, patient coaching, and sedation, when required), 2) motion-artifacts minimization methods (such as fast imaging protocols, data undersampling, and motion-resistant sequences), and 3) motion-detection/correction schemes (such as navigators and self-navigated sequences, external motion-tracking devices, and postprocessing approaches) and their application in fetal and neonatal brain MR imaging. Additionally some background on the repertoire of motion of the fetal and neonatal patient and the resulting artifacts will be presented, as well as insights into future developments and emerging techniques of motion compensation

Rib fracture after stereotactic radiotherapy on follow-up thin-section computed tomography in 177 primary lung cancer patients

<p>Abstract</p> <p>Background</p> <p>Chest wall injury after stereotactic radiotherapy (SRT) for primary lung cancer has recently been reported. However, its detailed imaging findings are not clarified. So this study aimed to fully characterize the findings on computed tomography (CT), appearance time and frequency of chest wall injury after stereotactic radiotherapy (SRT) for primary lung cancer</p> <p>Materials and methods</p> <p>A total of 177 patients who had undergone SRT were prospectively evaluated for periodical follow-up thin-section CT with special attention to chest wall injury. The time at which CT findings of chest wall injury appeared was assessed. Related clinical symptoms were also evaluated.</p> <p>Results</p> <p>Rib fracture was identified on follow-up CT in 41 patients (23.2%). Rib fractures appeared at a mean of 21.2 months after the completion of SRT (range, 4 -58 months). Chest wall edema, thinning of the cortex and osteosclerosis were findings frequently associated with, and tending to precede rib fractures. No patients with rib fracture showed tumors > 16 mm from the adjacent chest wall. Chest wall pain was seen in 18 of 177 patients (10.2%), of whom 14 patients developed rib fracture. No patients complained of Grade 3 or more symptoms.</p> <p>Conclusion</p> <p>Rib fracture is frequently seen after SRT for lung cancer on CT, and is often associated with chest wall edema, thinning of the cortex and osteosclerosis. However, related chest wall pain is less frequent and is generally mild if present.</p

Brachial Artery Diameter and the Right Ventricle : The Multi-Ethnic Study of Atherosclerosis-Right Ventricle Study

Background: Endothelial dysfunction is associated with left ventricular morphology and long-term cardiovascular outcomes. The purpose of this study was to assess the relationship between both baseline brachial artery diameter and peripheral endothelial function (assessed by brachial artery ultrasonography) and right ventricular (RV) mass, RV end-diastolic volume (RVEDV), and RV ejection fraction (RVEF). Methods: The Multi-Ethnic Study of Atherosclerosis (MESA) performed cardiac MRI and brachial artery ultrasonography on participants without clinical cardiovascular disease. Baseline brachial artery diameter and flow-mediated dilation were assessed. Results: The mean age was 60.9 years, and 49.4% of subjects were men (n = 2,425). In adjusted models, larger brachial artery diameter was strongly associated with greater RV mass (β = 0.55 g, P < .001), larger RVEDV (β = 3.99 mL, P < .001), and decreased RVEF (β = −0.46%, P = .03). These relationships persisted after further adjustment for the respective left ventricular parameters. Flow-mediated dilation was not associated with RV mass or RVEF and was only weakly associated with RVEDV. Conclusions: Brachial artery diameter is associated with greater RV mass and RVEDV, as well as lower RVEF. Changes in the systemic arterial circulation may have pathophysiologic links to pulmonary vascular dysfunction or abnormalities in RV perfusion

Small bowel MRI in adult patients: not just Crohn’s disease—a tutorial

To provide an overview of less well-known small bowel and mesenteric diseases found at small bowel magnetic resonance (MR) enterography/enteroclysis and to review the imaging findings. MR enterography and enteroclysis are important techniques for evaluation of small bowel diseases. In most centres these techniques are primarily used in Crohn's disease, and most radiologists are familiar with these MRI findings. However, the knowledge of findings in other diseases is often sparse, including diseases that may cause similar clinical symptoms to those of Crohn's disease. We present a spectrum of less common and less well-known bowel and mesenteric diseases (e.g. internal hernia, intussusception, neuroendocrine tumour) from our small bowel MR database of over 2,000 cases. These diseases can be found in patients referred for bowel obstruction, abdominal pain or rectal blood loss. Further, in patients with (or suspected to have) Crohn's disease, some of these diseases (e.g. neuroendocrine tumour, familial Mediterranean fever) may mislead radiologists to erroneously diagnose active Crohn's disease. Radiologists should be familiar with diseases affecting the small bowel other than Crohn's disease, including diseases that may mimic Crohn's diseas