The importance of understanding individual differences in Down syndrome

In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels—genetic, cellular, neural, cognitive, behavioral, and environmental—constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer’s disease in this high-risk population

MR renography with low-dose gadopentetate dimeglumine: feasibility

PURPOSE: To develop a low-dose magnetic resonance (MR) renographic method performed with and without an angiotensin converting enzyme (ACE) inhibitor and in conjunction with gadolinium-enhanced MR angiography in patients with suspected renovascular disease. MATERIALS AND METHODS: Thirty-two patients underwent MR renography (turbo fast low-angle shot sequence: repetition time, 5 msec; echo time, 2.3 msec; flip angle, 15 degrees; one coronal image acquired every 2 seconds for 4 minutes) following intravenous injection of 2 mL of gadopentetate dimeglumine, which was repeated following intravenous injection of an ACE inhibitor. Contrast material-enhanced MR angiography was also performed. On the basis of renographic findings, renal cortex and renal medulla enhancement curves and normalized enhancement ratios were analyzed. RESULTS: The cortex and medulla showed an early transient period of enhancement within 20 seconds (vascular phase). During 1-2 minutes, a second, gradual increase in medullary enhancement, reflecting transit of filtered contrast material, was observed that was significantly greater in patients with a serum creatinine level less than 2 mg/dL (177 micromol/L) than in those with a level of 2 mg/dL or greater (P <.01). After injection of the ACE inhibitor, patients with elevated creatinine levels showed low renal medullary enhancement regardless of the presence of renal artery stenosis (RAS). However, in patients with creatinine less than 2 mg/dL, medullary enhancement ratios after injection of the ACE inhibitor were consistently lower in patients with RAS of 50% or greater than in those without stenosis (P = .02 to .08). CONCLUSION: Low-dose MR renography can be performed in the clinical setting before and after injection of an ACE inhibitor, and its potential use for evaluating decreased renal function as a consequence of RAS is promising

Thoracic aorta: rapid black-blood MR imaging with half-Fourier rapid acquisition with relaxation enhancement with or without electrocardiographic triggering

PURPOSE: To evaluate and compare findings for thoracic aortic disease with three black-blood magnetic resonance (MR) pulse sequences: half-Fourier rapid acquisition with relaxation enhancement (RARE), with and without electrocardiographic (ECG) triggering, and ECG-triggered turbo spin echo (SE). MATERIALS AND METHODS: Axial black-blood MR images of the chest acquired at 1.5 T with a phased-array coil were obtained in 38 consecutive patients referred for evaluation of thoracic aortic disease. ECG-triggered and nontriggered half-Fourier RARE images were compared with T1-weighted ECG-triggered turbo SE images. Two readers independently scored images for each of the following parameters: ghosting artifacts; clarity of the mediastinum, cardiac chambers, and aortic wall; conspicuity of abnormality; intraluminal signal void uniformity; and overall image quality. RESULTS: Both half-Fourier RARE sequences outperformed the turbo SE sequence for all measured parameters. Scores for the ECG-triggered half-Fourier RARE sequence were significantly (P <.05) higher than those for the nontriggered version for clarity of the mediastinum and aortic wall, conspicuity of any abnormality other than aortic dissection, and overall image quality. Mean acquisition times for the ECG-triggered (48 seconds) and nontriggered (30 seconds) sequences were significantly shorter than that for the turbo SE sequence (2 minutes 20 seconds). CONCLUSION: Rapid black-blood half-Fourier RARE sequences, with or without ECG triggering, can replace ECG-triggered turbo SE sequences for evaluation of thoracic aortic disease

Angiotensin-converting enzyme inhibitor-enhanced phase-contrast MR imaging to measure renal artery velocity waveforms in patients with suspected renovascular hypertension

OBJECTIVE: We investigated the usefulness of phase-contrast MR imaging to measure renal artery velocity waveforms as an adjunct to renal MR angiography. We also examined whether an angiotensin-converting enzyme (ACE) inhibitor improves the diagnostic accuracy of waveform analysis. SUBJECTS AND METHODS: Thirty-five patients referred for MR angiography of renal arteries underwent non-breath-hold oblique sagittal velocity-encoded phase-contrast MR imaging through both renal hila (TR/TE, 24/5; flip angle, 30 degrees; signal averages, two; encoding velocity, 75 cm/sec) before and after i.v. administration of an ACE inhibitor (enalaprilat). We analyzed velocity waveforms using established Doppler sonographic criteria. A timing examination with a test bolus of gadolinium contrast material was performed to ensure optimal arterial enhancement during breath-hold gadolinium-enhanced three-dimensional gradient-echo MR angiography. RESULTS: MR phase-contrast waveform pattern analysis was 50% (9/18) sensitive and 78% (40/51) specific for the detection of renal artery stenosis equal to or greater than 60% as shown on MR angiography. Sensitivity (67%, 12/18) and specificity (84%, 42/50) increased slightly, but not significantly, after i.v. administration of an ACE inhibitor. Also, the accuracy of quantitative criteria such as acceleration time and acceleration index did not improve after the administration of ACE inhibitor. CONCLUSION: Renal hilar velocity waveforms, measured using non-breath-hold MR phase-contrast techniques with or without an ACE inhibitor, are insufficiently accurate to use in predicting renal artery stenosis