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Background: Anderson-Fabry disease is a multisystem X linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function. Evidence showing that enzyme-replacement therapy (ERT) can be effective in reducing LV hypertrophy and improving myocardial function in the long term is limited.Objective: This study aimed to assess the long-term effects of ERT with recombinant alpha-galactosidase A (agalsidase beta, Fabrazyme) on LV function and myocardial signal intensity in 11 patients with Anderson-Fabry disease.Patients: Eleven patients (eight males, three females) with varying stages of genetically confirmed Anderson-Fabry disease were examined by means of physical examination and magnetic resonance imaging before ERT with agalsidase beta at 1 mg/kg every other week (study 1) and after a mean treatment duration of 45 months (study 2).Results: At 45 months of treatment, LV mass and LV wall thickness had significantly reduced: 188 (SD 60) g versus 153 (47) g, and 16 (4) mm versus 14 (4) mm, respectively. Furthermore, a significant reduction in myocardial T2 relaxation times was noted in all myocardial regions, that is, interventricular septum 80 (5) ms versus 66 (8) ms, apex 79 (10) ms versus 64 (10) ms, and lateral wall 80 (8) ms versus 65 (16) ms. Changes in LV ejection fraction were not significant. Amelioration of clinical symptoms was observed in all patients.Conclusions: Long-term therapy with agalsidase beta at 1 mg/kg every 2 weeks was effective in significantly reducing LV hypertrophy, improving overall cardiac performance and ameliorating clinical symptoms in patients with Anderson-Fabry disease. [ABSTRACT FROM AUTHOR]

Fabry disease ( FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α-galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs. Progressive nephropathy is one of the main features of FD and is marked by an insidious development, with an overall rate of progression of chronic kidney disease (CKD) very similar to diabetic nephropathy. Untreated patients usually develop end stage renal disease in their 50s. The decline in renal function in FD is adversely affected by male gender, advanced CKD, hypertension and, in particular, severe proteinuria. Enzyme replacement therapy ( ERT) has been shown to slow the progression of Fabry nephropathy. The current consensus is that ERT should be started in all men and women with signs of renal involvement. [ABSTRACT FROM AUTHOR]

Background/Aims: Presence and progression of coronary artery calcification (CAC) indicate severe atherosclerosis and predict cardiovascular events (CVE) in dialysis (ESRD patients) and nondialysis patients (CKD patients). This study aimed at evaluating the prevalence and progression of CAC and CVE in CKD patients with diabetes in whom atherosclerosis of coronary arteries is the leading cause of CVE. Methods: This was a retrospective study conducted in both out- and in-patients with chronic kidney disease, stage 2-5. CAC were assessed by the total calcium (TC) score. CT scans were performed at the entry and at the end of the study. Results: Patients (n = 341) were divided into nondiabetic (n = 281) and diabetic patients (n = 60). CAC prevalence and TC score were higher in diabetics and associated with age, diabetes mellitus and pulse pressure. Diabetics with CKD presented a higher percentage of CAC progression and CVE. Conclusion: Prevalence, extent, progression of CAC and CVE are higher in diabetics with concomitant CKD. These findings may promote a more aggressive protocol of screening and care in type 2 diabetics with concomitant CKD. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Copyright of La Radiologia Medica is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of La Radiologia Medica is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of La Radiologia Medica is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of La Radiologia Medica is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background Fatigability and dyspnoea on effort are present in many patients with Fabry's disease. We assessed the determinants of cardiac performance during exercise in patients with Fabry's disease and preserved left ventricular ejection fraction at rest. Materials and methods Sixteen patients with Fabry's disease and 16 control subjects underwent radionuclide angiography at rest and during exercise, tissue Doppler echocardiography and magnetic resonance imaging at rest. Results The exercise-induced change in stroke volume was +25 ± 14% in controls and +5·8 ± 19% in patients with Fabry's disease ( P < 0·001). In 10 patients (group 1), the stroke volume increased (+19 ± 10%), and in 6 patients (group 2) it decreased (–16 ± 9%) with exercise. Patients of group 2 were older, had worse renal function, higher left ventricular mass and impaired diastolic function compared to group 1. The abnormal stroke volume response to exercise in group 2 was associated with a decrease in end-diastolic volume ( P < 0·001) and a lack of reduction of end-systolic volume ( P < 0·01) compared with both controls and group 1. The ratio of peak early-diastolic velocity from mitral filling to peak early-diastolic mitral annulus velocity was the only independent predictor of exercise-induced change in stroke volume (B –0·44; SE 0·119; β–0·70; P < 0·005). Conclusions The majority of patients with Fabry's disease were able to augment stroke volume during exercise by increasing end-diastolic volume, whereas patients with more advanced cardiac involvement may experience the inability to increase cardiac output by the Frank Starling mechanism. [ABSTRACT FROM AUTHOR]

The objective of this study was to evaluate the diagnostic accuracy of chemical–shift (CS) magnetic resonance (MR) imaging in the differential diagnosis of adenoma and nonadenoma adrenal masses. We enrolled 36 patients (9 men, 27 women, mean age 51.3+14.4 years) with unilateral (n=31) or bilateral (n=5) adrenal masses incidentally discovered during imaging examinations [ultrasound (US), computed tomography (CT)] performed for other indications. A total of 41 adrenal lesions were evaluated (mean diameter 3.0+2.2 cm). Histology (n=19), biopsy (n=3) or clinical–imaging follow–up (n=19) demonstrated 29 adenomas, five pheochromocytomas, three cysts and four carcinomas. MR imaging was performed using the following breath–hold sequences: T1–fast field echo (FFE) [repetition time (TR)/echo time (TE)=236/4.6 ms], T2–turbo spin echo–single shot (TSE–SSh) (TR/TE=831/80 ms), T1–DUAL–FFE (TR=236, double TE=4.6/2.3 ms in phase and out of phase) and T1–FFE after gadolinium–DTPA (Gd). Axial and coronal imaging planes were used, with a slice thickness of 3–5 mm. MR images were qualitatively assessed for signal intensity of the adrenal mass relative to the liver on T1, T2, CS and T1–Gd scans; diagnostic criteria for adenomas were isointensity or hypointensity on both T1 and T2 scans, out–of–phase CS signal loss and mild transient enhancement after Gd. Analysis of T1–T2 signal intensity showed diagnostic accuracy, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of 80%, 72%, 100%, 100% and 60%, respectively. In contrast, analysis of CS and T1–Gd signal intensity showed diagnostic accuracy, sensitivity, specificity, PPV and NPV for both sequences of 93%, 90% ( p<0.05 vs. T1–T2 analysis), 100%, 100% and 80% ( p<0.05 vs. T1–T2 analysis), respectively. CS MR imaging significantly improves characterization of adrenal masses compared with conventional T1–T2–weighted images, providing accuracy similar to that of the T1 sequence after Gd. Therefore, the CS sequence is strongly recommended for MR study of adrenal masses, and its use might obviate the need for Gd administration. [ABSTRACT FROM AUTHOR]

The purpose of this study was to evaluate the role of multislice computed tomography (MSCT) with a single–phase technique in patients with suspected pancreatic cancer (PC). Seventy–eight patients underwent MSCT with the following technical parameters: collimation: 4x1 mm; pitch 1; 120 kVp; 260 mAs. The pre–contrast scan was followed by a single acquisition phase in the caudocranial direction from the inferior hepatic margin to the diaphragm with a 60–s delay after IV administration of 150 ml of iodinated contrast material at a rate of 3 ml/s. Two radiologists assessed the single images independently. Receiver operating characteristics (ROC) curves were obtained for each of the two observers. The final diagnosis was pancreatic cancer in 46 cases and chronic pancreatitis in 32 cases. Areas under the curve (Az) for diagnosis and evaluation of disease resectability were 0.97 and 0.93 for the first observer ( p=ns), and 0.97 and 0.90 for the second observer ( p=ns). The mean difference in tissue attenuation values between the cancer and normal pancreas was 72±3 Hounsfield units (HU). No statistically significant differences were observed in the degree of opacification between the peripancreatic arteries and veins. MSCT with a single–phase technique is an accurate and reproducible method for diagnosis and evaluation of disease resectability in patients with suspected PC, ensuring optimal tumour–to–pancreas contrast and maximal opacification of the main peripancreatic arterial and venous structures. [ABSTRACT FROM AUTHOR]

Background: Conventional colonoscopy (CC) requires an experienced operator to avoid technical or interpretative errors, and an endoscopic error rate of 14% for tumor localization has been reported. We evaluated the impact of computed tomographic colonography (CTC) on surgical treatment strategy in patients with CC reported as having colorectal neoplasm. Methods: Fifty-three patients testing positive for colorectal neoplasm on CC underwent CTC: 32 patients had CC in our hospital (group A) and 21 had CC in area hospitals (group B). All CTC procedures were performed with a multidetector CT system. The results of CTC and CC were compared with that of surgery. The preoperative surgical planning evaluated on the basis of CC and CTC was compared with the actual surgical approach, and the percentage of patients in whom CTC modified the treatment strategy suggested by CC was calculated. Results: CTC changed the treatment strategy in four of 53 patients (7.5%) in whom CC showed technical or interpretative errors. Group analysis showed that CTC did not influence the surgical management in any patient in group A but did affect treatment strategy in four of 21 patients (19%) in group B. The effect of CTC on treatment strategy between groups was statistically significant (p < 0.05). CTC identified five adenomas and three adenocarcinomas localized proximally to an impassable stenosis. Conclusion: CTC can be used to reevaluate the findings of a positive CC and can indicate a more correct therapeutic approach in patients with colorectal neoplasms who are candidates for surgery. [ABSTRACT FROM AUTHOR]

Multiple malignant esophageal tumors of the same cell type are described. In the esophageal mucosa, widespread carcinomatous transformation may be observed and multicentric invasive squamous cell carcinomas may develop. The concomitance of two independent esophageal malignant neoplasms of different epithelial histogenesis is uncommon. Synchronous adenocarcinoma and squamous cell carcinoma of the esophagus is reported. Adenosquamous carcinoma of the esophagus is a rare tumor. Adenocarcinoma of the esophagus represents 10% of esophageal cancer. We report a case of a synchronous primary invasive adenosquamous carcinoma and adenocarcinoma of the esophagus. Both tumors were demonstrated radiographically. The peculiarity of this neoplastic association and the importance of complete radiographic esophageal evaluation in patients with one obvious obstructing tumor of the esophagus are emphasized. [ABSTRACT FROM AUTHOR]

Background: We compared rest-redistribution thallium 201 and resting technetium 99m methoxyisobutyl isonitrile (MIBI) cardiac imaging in 29 men with angiographically proven coronary artery disease and regional ventricular dysfunction. Left ventricular ejection fraction at radionuclide angiography was 35% +/- 9%.Methods and Results: Regional left ventricular wall motion was assessed on gated 99mTc MIBI images according to a 3-point scale (0 = normal, 1 = hypokinetic, 2 = akinetic or dyskinetic). 201Tl and 99mTc MIBI uptake values were analyzed quantitatively. A total of 435 myocardial segments were classified on the basis of wall motion analysis into three groups: group 1 (normal wall motion; n = 201), group 2 (hypokinetic; n = 132), and group 3 (akinetic or dyskinetic; n = 102). 201Tl and 99mTc MIBI uptake values were significantly higher in groups 1 and 2 compared with group 3 (p < 0.05) and in group 1 compared with group 2 (p < 0.05). When 201Tl and 99mTc MIBI uptake values were directly compared, no significant differences in group 1 and 2 were observed. In group 3, 99mTc MIBI uptake (67% +/- 14%) was significantly lower (p < 0.001) than initial (72% +/- 11%) and delayed 201Tl uptake (73% +/- 12%).Conclusion: Thus rest-redistribution 201Tl and resting 99mTc MIBI cardiac imaging reflect the severity of left ventricular dysfunction in coronary artery disease. However, in segments with severely impaired regional ventricular function, 201Tl uptake is significantly higher than 99mTc MIBI uptake. [ABSTRACT FROM AUTHOR]

Anderson–Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme a-galactosidase A (a-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. [ABSTRACT FROM AUTHOR]

Background: Anderson-Fabry disease is a multisystem X linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function. Evidence showing that enzyme-replacement therapy (ERT) can be effective in reducing LV hypertrophy and improving myocardial function in the long term is limited. Objective: This study aimed to assess the long-term effects of ERT with recombinant α-galactosidase A (agalsidase beta, Fabrazyme) on LV function and myocardial signal intensity in 11 patients with Anderson-Fabry disease. Patients: Eleven patients (eight males, three females) with varying stages of genetically confirmed Anderson-Fabry disease were examined by means of physical examination and magnetic resonance imaging before ERT with agalsidase beta at 1 mg/kg every other week (study 1) and after a mean treatment duration of 45 months (study 2). Results: At 45 months of treatment, LV mass and LV wall thickness had significantly reduced: 188 (SD 60) g versus 153 (47) g, and 16 (4) mm versus 14 (4) mm, respectively. Furthermore, a significant reduction in myocardial T2 relaxation times was noted in all myocardial regions, that is, interventricular septum 80 (5) ms versus 66 (8) ms, apex 79 (10) ms versus 64 (10) ms, and lateral wall 80 (8) ms versus 65 (16) ms. Changes in LV ejection fraction were not significant. Amelioration of clinical symptoms was observed in all patients. Conclusions: Long-term therapy with agalsidase beta at 1 mg/kg every 2 weeks was effective in significantly reducing LV hypertrophy, improving overall cardiac performance and ameliorating clinical symptoms in patients with Anderson-Fabry disease. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor related to unusual case of obstruction of the terminal ileum.