Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy.

PURPOSE: Anderson-Fabry disease is a multisystemic disorder of lipid metabolism secondary to X-chromosome alterations and is frequently associated with cardiac manifestations such as left ventricular (LV) hypertrophy, gradually leading to an alteration in cardiac performance. The purpose of this study was to monitor, using magnetic resonance imaging (MRI), any changes produced by enzyme replacement therapy with agalsidase beta at the cardiac level in patients with Anderson-Fabry disease. MATERIALS AND METHODS: Sixteen (ten men, six women) patients with genetically confirmed Anderson-Fabry disease underwent cardiac MRI before starting enzyme replacement therapy (baseline study) and after 48 months of treatment with agalsidase beta at the dose of 1 mg/kg (follow-up study). RESULTS: After 48 months of treatment, a significant reduction in LV mass and wall thickness was observed: 187±59 g vs. 149±44 g, and 16±3 mm vs. 13±3 mm, respectively. A significant reduction in T2 relaxation time was noted at the level of the interventricular septum (81±3 ms vs. 67±7 ms), at the apical level (80±8 ms vs. 63±6 ms) and at the level of the lateral wall (82±8 ms vs. 63±10 ms) (p<0.05). No significant variation was observed in ejection fraction between the two studies (65±3% vs. 64±2%; p>0.05) (mean bias 1.0); however, an improvement was noted in the New York Heart Association (NYHA) class of the majority of patients (12/16) (p<0.05). CONCLUSIONS: In patients with Anderson-Fabry disease undergoing enzyme replacement therapy with agalsidase beta, MRI documented a significant reduction in myocardial T2 relaxation time, a significant decrease in maximal myocardial thickness and in total LV mass. MRI did not reveal significant improvements in LV global systolic function; however, improvement in NYHA functional class was noted, consistent with improved diastolic function.

Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression.

Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme α-galactosidase A (α-Gal A) and subsequent cellular storage of the enzyme's substrate globotriaosylceramide (Gb3) and related glycosphingolipids. We report a case of Anderson-Fabry disease with cardiac involvement evaluated with cardiovascular MRI. Disease progression was observed despite enzyme replacement therapy.

Comparison between multislice CT and MR imaging in the diagnostic evaluation of patients with pancreatic masses.

PURPOSE: This study compared the results of multislice computed tomography (MSCT) and high-field magnetic resonance imaging (MRI) in the diagnostic evaluation of pancreatic masses. MATERIALS AND METHODS: Forty patients with clinical and ultrasonographic evidence of pancreatic masses underwent MSCT and MRI. The majority of patients (31/40, 78%) had proven malignant pancreatic tumours (24 ductal adenocarcinoma, six mucinous cystadenocarcinoma, one intraductal papillary mucinous carcinoma), whereas the remaining patients (9/40, 22%) were found to have benign lesions (eight chronic pancreatitis, one serous cystadenoma). Results of the imaging studies were compared with biopsy (n=33) and/or histology (n=7) findings to calculate sensitivity, specificity, accuracy and positive (PPV) and negative (NPV) predictive value for correct identification of tumours and evaluation of resectability of malignancies. RESULTS: Both for tumour identification and resectability, MSCT and MRI had comparable diagnostic accuracy, with no statistically significant differences between them. Tumour identification CT/MRI: accuracy 98/98%, sensitivity 100/100%, specificity 88/88%, PPV 97/97%, NPV 100/100%; tumour resectability CT/MRI: accuracy 94/90%, sensitivity 92/88%, specificity 100/100%, PPV 100/100%, NPV 78/70%. CONCLUSIONS: MRI represents a valid diagnostic alternative to CT in the evaluation of patients with pancreatic masses, both for correct identification and characterisation of primary lesions and to establish resectability in the case of malignancies. New high-field MRI equipment allows optimal imaging quality with good contrast resolution in evaluating the upper abdomen.

Dual-time-point [18F]-FDG PET/CT in the diagnostic evaluation of suspicious breast lesions.

PURPOSE: The authors sought to evaluate whether the reacquisition of images 3 h after administration of radiotracer improves the sensitivity of fluorine-18 fluorodeoxyglucose positron emission tomography computed tomography ([(18)F]-FDG PET/CT) in patients with suspicious breast lesions. MATERIALS AND METHODS: Forty-eight patients with 59 breast lesions underwent an [(18)F]-FDG PET/CT study in the prone position with a dual-time-point acquisition performed in the early phase 1 h after FDG administration (PET-1) and in the delayed phase 3 h after FDG administration (PET-2). Both examinations were evaluated qualitatively and semiquantitatively with calculation of the mean percentage variation of the standard uptake values (Delta% SUV(max)) between PET-1 and PET-2. All lesions with an SUV(max) >or=2.5 at PET-1 or a reduction in SUV between PET-1 and PET-2 were considered benign. The definitive histopathological diagnosis was available for all patients included in the study. RESULTS: The dual-time-point acquisition of [(18)F]-FDG PET/CT displayed an accuracy of 85% for lesions with an SUV(max) >or=2.5 and/or positive Delta% SUV(max), with sensitivity and specificity values of 81% and 100% compared with 69%, 63% (both p<0.001) and 100% (p=n.s.), respectively, for the single-time-point acquisition. Malignant lesions showed an increase in FDG uptake between PET-1 and PET-2, with a Delta% SUV(max) of 10+/-7 (p<0.04). In contrast, benign lesions showed a decrease in SUV between PET-1 and PET-2, with a Delta% SUV(max) of -21+/-7 (p<0.001). CONCLUSIONS: The delayed repeat acquisition of PET images improves the accuracy of [(18)F]-FDG PET/CT in patients with suspicious breast lesions with respect to the single-time-point acquisition. In addition, malignant breast lesions displayed an increase in FDG uptake over time, whereas benign lesions showed a reduction. These variations in FDG uptake between PET-1 and PET-2 are a reliable parameter that can be used for differentiating between benign and malignant breast lesions.

Synchronous dynamic focusing for ultrasound imaging.

An approach to dynamic focusing of ultrasound linear array scanners is presented, leading to the unique capability of implementing a focus that continuously tracks the return signal along the penetration depth. An electronically variable lens is obtained by a heterodyning process, in which the phases of echo signals at the array elements are equalized by mixing with suitable reference oscillations. These are generated by control of a single voltage-controlled oscillator, whose frequency is properly varied in synchronism with the delay of signal from different depths. The technique has been experimentally demonstrated by modifying the focusing processor of a conventional echographic linear scanner. Superior performances have been obtained with respect to fixed-focus operation mode. The image quality results are comparable with those of multizone-focus operation mode, in which the focus is varied over more transmit/receive cycles at the expense of lower frame rate.

Innervation pattern of intrinsic laryngeal musculature of the rabbit.

The intrinsic laryngeal musculature of rabbit was studied using various neurohistological techniques. The vegetative and sensory nerve terminals are present in abundance, while the proprioceptors are seemingly absent. Furthermore, simple motor endplates, sometimes furnished with ultraexpansional fibers, complex endplates, or 'en grappe' are described. Their abundance within a musculature lacking in muscle-spindles is indicative of a possible vicarious function.

[The preoperative evaluation of factors influencing low output syndrome in cardiac surgery (author's transl)]. / Individuazione preoperatoria dei fattori che influenzano la sindrome da bassa gittata in cardiochirurgia.

For a preoperative evaluation of the factors influencing low output syndrome significatively in open heart surgery where statistically studied 15 factors upon a pattern of 400 patients operated with extracorporeal circulation: age, sex, weight; functional class; cyanosis; pulmonary hypertension; cardiopathy; arterial blood hypertension; myocardiopathy; left ventricular end-diastolic pressure; cardiac index; cardiothoracic index; aortic clamp duration; reoperation; extracorporeal circulation technique. Significant risk factors are: myocardiopathy; aortic clamp duration; functional class; pulmonary hypertension; reoperation; cardiac index; cardiothoracic index and arterial blood hypertension. These factors increase the studied pattern mean risk respectively of a 17.6%; 27.8%; 17.5%; 14.5%; 13.7%; 10.7%; 8.8% and 8.7%. Also myocardial protection technique was considered to be a significant risk factor, since mean risk for low output syndrome is much higher for these patients operated with the coronary perfusion, normothermy and simple hypothermy than for those operated with hypothermia and pharmacologic cardioplegia.

Crystal and molecular structure of n,n'-diethyl-n,n'-diphenylurea.

N,N'-diphenyl-N,N'-diethylurea (C(17)H(20)N(2)O) crystallizes in the space group P2(1)/c. The unit cell constants are: a = 10.42 +/- 0.01 A, b = 16.86 +/- 0.02 A, c = 10.66 +/- 0.001 A, beta = 125 degrees 16' +/- 5'; Z = 4, D(x) = 1.16 g.cm(-3), D(meas) = 1.16 +/- 0.01 g.cm(-3). Data for 1392 reflections were collected at room temperature on a Picker automated diffractometer. The crystal structure was solved by direct methods and refined by bloc-diagonalized matrix least-squares calculations. The molecule is characterized by a pseudo C(2) symmetry; both phenyl groups are trans with respect to the oxygen atom. The hybridization of the two nitrogen atoms is intermediate between trigonal and tetrahedral; the nonplanar distortion of the amide groups is about 30 degrees . The amide C-N bond lengths are 1.37 A.