MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.

PURPOSE: The continuous discovery of new subtypes of neuromuscular disorders demands more accurate imaging analyses. We set out to establish the specific patterns of muscular involution using magnetic resonance imaging (MRI). MATERIALS AND METHODS: A systematic clinical evaluation based on the Medical Research Council scale and MRI was completed in ten patients with calpainopathy [limb-girdle muscular dystrophy (LGMD)-2A], 16 with dysferlinopathy (LGMD-2B), ten with hyaline body myopathy (HBM), six with myotonic dystrophy (MD) types 1 and 5 with MD type 2. Severity of fibroadipose degeneration was specifically staged using T1-weighted sequences. Turbo inversion recovery magnitude (TIRM) sequences were used to assess oedema-like changes. RESULTS: T1 scans showed recurrent patterns of fibroadipose replacement, whereas TIRM images revealed differences in oedema-like changes between the various diseases. In LGMD, the posterior compartments are more vulnerable to degeneration. In HBM, fatty muscle degeneration and oedema are allocated to muscles of the posterior compartments of the leg. In MD, fatty muscle degeneration and oedematous changes are allocated to muscles of the anterior thigh and posterior lower leg. CONCLUSIONS: Imaging examination suggests a characteristic pattern of muscle involvement. MRI represents an important diagnostic technique useful in differential diagnosis, thanks to the distinctive patterns observed in the distribution of muscular changes between the different muscular diseases.

Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s.

The introduction of radiological contrast media and intravenous (i.v.) urography in clinical diagnostics in the 1930s enabled the discovery of several diseases, including the medullary sponge kidney (MSK). MSK is a renal malformation characterized by cystic anomalies of precalyceal ducts, which is frequently associated with nephrocalcinosis and renal stones. Although it was first recognized by G Lenarduzzi in 1939, its thorough description was the result of the ante litteram multidisciplinary cooperation between a radiologist (Lenarduzzi), a urologist (Cacchi), and a pathologist (Ricci), all at the Padua University Hospital. These authors 'established' the paradigm for its diagnosis that is still used today. I.v. urography is the gold standard for the diagnosis of MSK, but as the technique is used less and less, there is a concrete possibility of this renal condition being forgotten in the future. Although the pathogenesis of MSK has yet to be elucidated, its association with different malformative conditions supports the idea that it is a developmental disorder. Recent findings suggest that MSK may be the consequence of a disruption of the ureteral-bud/metanephric-blastema interface.

Imaging of primary sclerosing cholangitis: preliminary results by two new non-invasive techniques.

BACKGROUND: Magnetic resonance cholangiography is a new technique which has already gained a role in primary sclerosing cholangitis. Computerised tomographic cholangiography is another non-invasive technique which has been used in assessing abnormal biliary tree, but has never been applied to evaluating primary sclerosing cholangitis. AIMS: To evaluate the ability of both magnetic resonance cholangiography and computerised tomographic cholangiography to detect bile duct changes in primary sclerosing cholangitis. PATIENTS AND METHODS: Magnetic resonance cholangiography and computerised tomographic cholangiography were performed in 16 primary sclerosing cholangitis patients. The computerised tomographic cholangiography data set was transferred to a processing workstation to obtain tridimensional reconstructions. Magnetic resonance cholangiography and computerised tomographic cholangiography images were analysed blind by two radiologists to assess: primary sclerosing cholangitis involvement, quality of imaging and the radiologist's certainty in determining the presence and location of the disease. RESULTS: Mean imaging quality was significantly better with computerised tomographic cholangiography compared with magnetic resonance cholangiography. Primary sclerosing cholangitis was identified in 15 cases with computerised tomographic cholangiography and 10 with magnetic resonance cholangiography (P < 0.05). Sensitivity in diagnosing primary sclerosing cholangitis was 94% with computerised tomographic cholangiography versus 63% with magnetic resonance cholangiography. Intrahepatic location was found in 14 cases, definitely present in 10 cases with computerised tomographic cholangiography and five with magnetic resonance cholangiography. Extrahepatic location was found in 13 cases, definitely present in 11 cases with computerised tomographic cholangiography and four with magnetic resonance cholangiography (P < 0.05). Computerised tomographic cholangiography also offered dynamic information about biliary excretion. CONCLUSIONS: Computerised tomographic cholangiography enables more accurate detection and location of primary sclerosing cholangitis than magnetic resonance cholangiography. Since computerised tomographic cholangiography offers additional information about biliary excretion, it may be proposed as an integrative technique in the diagnosis and follow-up of patients with primary sclerosing cholangitis.

Fractal analysis of lumbar vertebral cancellous bone architecture.

Osteoporosis is characterized by bone mineral density (BMD) decreasing and spongy bone rearrangement with consequent loss of elasticity and increased bone fragility. Quantitative computed tomography (QCT) quantifies bone mineral content but does not describe spongy architecture. Analysis of trabecular pattern may provide additional information to evaluate osteoporosis. The aim of this study was to determine whether the fractal analysis of the microradiography of lumbar vertebrae provides a reliable assessment of bone texture, which correlates with the BMD. The lumbar segment of the spine was removed from 22 cadavers with no history of back pain and examined with standard x-ray, traditional tomography, and quantitative computed tomography to measure BMD. The fractal dimension, which quantifies the image fractal complexity, was calculated on microradiographs of axial sections of the fourth lumbar vertebra to determine its characteristic spongy network. The relationship between the values of the BMD and those of the fractal dimension was evaluated by linear regression and a statistically significant correlation (R = 0.96) was found. These findings suggest that the application of fractal analysis to radiological analyses can provide valuable information on the trabecular pattern of vertebrae. Thus, fractal dimensions of trabecular bone structure should be considered as a supplement to BMD evaluation in the assessment of osteoporosis.

[Endovascular treatment for recurrent carotid stenosis]. / Il trattamento endovascolare della restenosi carotidea.

PURPOSE: Surgery of recurrent carotid stenosis (RCS) has higher complication rates than primary carotid endoarterectomy (CEA). Percutaneous transluminal angioplasty (PTA) and stent placement were evaluated retrospectively with a view to proposing then as alternative procedures for RCS. METHODS: In the last 10 years, 19 patients underwent 20 endovascular procedures for RCS at our Department. The mean interval between CEA and PTA was 21 months (range 4-96): 14 patients had PTA within 2 years, 3 patients within 2 and 3 years,and 2 after 3 years. The mean degree of stenosis was 92% (range 80-95%). PTA was performed by balloon catheters (size 4-7 mm) without using cerebral protection device; one self-expanding stent was used to treat RCS after PTA. All patients underwent physical examination and carotid color-coded Doppler sonography in autumn 1999 RESULTS: The procedure was technically successful, with residual stenosis lower than 50%, in 17 of 19 patients; 10 patients showed residual stenosis lower than 30%. Carotid PTA was stopped due to transient neurological deficit in one case. One RCS proved uncompliant even though high-pressure balloon catheters were used. The mean follow-up period in 16 patients was 37.4 months (range 3-99 months). Carotid restenosis after PTA developed in 3 patients, respectively after 29,18 and 7 months. In the last case RCS was successfully treated by stent placement (Wallstent). The primary patency rate was 81%, the secondary patency rate was 88% and the late clinical success rate was of 94%. CONCLUSIONS: In selected cases, PTA without the use of cerebral protection devices and stent placement proved to be a safe and effective alternative treatment for early RCS. When an atherosclerotic lesion is suspected surgery or endovascular treatment with cerebral protection devices are recommended.

Identification of the etiology of primary aldosteronism with adrenal vein sampling in patients with equivocal computed tomography and magnetic resonance findings: results in 104 consecutive cases.

The objectives of this study were to investigate the usefulness of adrenal vein sampling in identifying the etiology of primary aldosteronism (PA) in patients with equivocal CT and MR findings. Between 1990 and 1999, 104 referred hypertensive patients (45 women and 59 men, aged 49.6 +/- 11.6 yr) were diagnosed to have PA with inconclusive computed tomography scan and magnetic resonance results, based on established criteria. Adrenal vein sampling (AVS) for measurement of plasma aldosterone (A) and cortisol (C) levels was performed in all. Selectivity of AVS was assessed by the ratio between C levels in each adrenal vein and in the infrarenal inferior vena cava plasma (C(side)/C(IVC)). A receiver operator characteristics analysis was carried out to establish 1) the best AVS-derived index, 2) the degree of selectivity that could provide an accurate diagnosis, and 3) whether a correct diagnosis could be made from a unilaterally selective AVS. An aldosterone-producing adenoma (average diameter, 12.2 +/- 0.08 mm) was eventually diagnosed in 41 patients (39.4%) and was excluded in the rest. Adrenal vein rupture leading to partial adrenal loss occurred in 1 patient (0.9% complication rate). By assuming a cut-off value of C(side)/C(IVC) > or = 1.1, AVS was selective in 85.7% and 94.1% of cases on the right and left sides, respectively, and bilaterally in 80.6% of cases. Of all AVS-derived indexes, the A/C of one over the A/C contralateral side [(A/C)(side)/(A/C)(contralateral side)] furnished the best diagnostic accuracy. With a bilaterally selective AVS, a value of (A/C)(side)/(A/C)(contralateral side) > or = 2 provided a conclusive etiological diagnosis of PA in 79.7% of cases. At variance, no accurate diagnosis could be made from unilaterally selective AVS. AVS was feasible and safe in most PA patients with inconclusive computed tomography and magnetic resonance scans. When bilaterally selective (i.e. C(side)/C(IVC) > or = 1.1) a ratio of (A/C)(side)/(A/C)(control) > or = 2 provided the best compromise of sensitivity and false positive rate for lateralization of the etiology of PA.

Quantitative ultrasound at the hand phalanges: comparison with quantitative computed tomography of the lumbar spine in postmenopausal women.

The aim of our study was to evaluate the diagnostic effectiveness of a quantitative ultrasound technique for measuring bone tissue at the proximal phalanges of the non-dominant hand. We correlated the mean value of the amplitude-dependent speed of sound (AD-SoS) and the ultrasound bone profile score (UBPS) measured at the phalanges with bone mineral density (BMD) of the lumbar spine gauged with quantitative computed tomography (QCT). We studied a group of 177 postmenopausal women consecutively presenting for osteoporosis screening. We observed that in the whole study group both AD-SoS and UBPS correlated weakly with BMD, although with statistical significance (r = 0.54 and r = 0.45, respectively; p < 0.0001). The same parameters showed a poor correlation (r = 0.48, p < 0.0001; and r = 0.23, p = 0.017) in the group of patients which QCT has classified as osteoporotic. Finally, no correlation was found in the rest of our population. The correlation coefficients of comparison between our QUS and QCT measurements are not strong enough to allow us a prediction of one measure from the other. Therefore, we do not consider the phalangeal osteosonography a valid substitute of QCT technique for assessment of bone status in postmenopausal women.

Transcatheter arterial chemoembolization for hepatocellular carcinoma in patients with Child's grade A or B cirrhosis: a multivariate analysis of prognostic factors.

We evaluated factors affecting long-term survival after transcatheter arterial chemoembolization (TACE) for hepatocellular carcinoma (HCC) complicating cirrhosis. One hundred eighty-two patients with Child's class A or B cirrhosis and an HCC, not amenable to surgery or percutaneous ethanol injection, underwent 346 TACEs (mean 1.9) with epirubicin, iodized oil, and gelatin sponge. Many prognostic factors were subjected to univariate analysis and thereafter, when significant, to the Cox's hazard proportional model. Finally, the significant indices in the Cox's model were used to estimate the accuracy of the probability of death with computation of the area under the receiving operative characteristic (ROC) curve. The cumulative survival rates at 1, 2, 3, and 5 years were 0.83, 0.52, 0.40, and 0.16, respectively. According to Cox's model, the factors associated with significantly worse survival were the presence of ascites (p = 0.0027), elevated bilirubin levels (p = 0.0163), elevated alpha-fetoprotein (alphaFP) values (p = 0.0067), a tumor greater than 5 cm in diameter (p = 0.0001), and the absence of a tumor capsule-like rim (p = 0.0278). According to these parameters, the accuracy of the probability of death estimated with ROC analysis was 0.63. Minor and major complications occurred in 82 patients (45%) and caused death in 2 patients. Long-term prognosis after TACE for HCCs in patients with Child's class A or B cirrhosis depends on the presence of ascites, the bilirubin level, the alphaFP value, the diameter of the tumor, and the presence of a tumor capsule-like rim. However, when considered altogether, these variables are poor predictors to evaluate survival, and other factors should be investigated to identify subjects more responsive to TACE. Complications occur in a high percentage of patients, but they do not affect long-term prognosis.

Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients.

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.

[Long-term results of chemoembolization for hepatocarcinoma]. / Risultati a lungo termine della chemioembolizzazione nell'epatocarcinoma.

We reviewed the long-term results of transcatheter arterial chemoembolization in the treatment of inoperable hepatocellular carcinoma (HCC) complicating cirrhosis; the survival analysis was used to assess the clinical efficacy of the procedure. Several chemoembolization protocols are discussed because no standard treatment exists. Literature data show cumulative survival rates after chemoembolization for an HCC to range 60% to 80% at one year and 40% to 50% at two years; comparative studies, although contradictory, show a trend of chemoembolization to prolong survival in patients with inoperable carcinoma. The main prognostic factors are tumor size and extent, liver function impairment, the grade of Lipiodol tumor uptake, and the tumor response to therapy. The complication rates of chemoembolization vary largely in the literature, mainly because of the different standards used to define adverse events. Chemoembolization morbility rate is usually high, ranging 20% to 55%, but most complications are generally well treated with conservative management. The mortality rate is usually very low and well acceptable for a palliative anticancer therapy. In conclusion, chemoembolization is clinically effective in prolonging survival in cirrhotic patients with HCC; the lack of any reliable alternative therapy makes chemoembolization play a major role in the treatment of HCC when surgery or percutaneous ethanol injection are unfeasible.

Renovascular hypertension with low-to-normal plasma renin: clinical and angiographic features.

1. Low-to-normal renin renovascular hypertension (RVH) and the accuracy of renal vein renin ratios were investigated in 129 consecutive patients referred for suspected RVH. Forty-nine had essential hypertension, 24 unilateral renoparenchymal hypertension and 56 renal artery obstruction. Of the latter, 86% were diagnosed retrospectively as RVH, based on fall in blood pressure with correction of renal ischaemia. We measured baseline, captopril-stimulated and renal vein plasma renin activity (PRA) levels, as well as several other parameters. 2. PRA was low-to-normal in 37% of the RVH patients [low-to-normal renin (LNR-) RVH group] and elevated in the remaining 63% [high-renin (HR-) RVH group]. In the LNR-RVH group, low-to-normal renin levels, by immunoreactive active renin and plasma renin concentration measurements, and a blunted response of PRA to captopril, were seen. As compared with HR-RVH, LNR-RVH patients had a longer duration of hypertension (P < 0.05), higher serum K+ (P = 0.04) and lower diastolic blood pressure (P = 0.02). However, they did not differ for the other variables, including the fall in blood pressure after correction of renal ischaemia. Although the number of bilateral stenoses was similar in the two groups, no patient in the LNR-RVH group had total renal artery occlusion compared with 53% in the HR-RVH group (P = 0.00015). The accuracy of renal vein renin indices were high enough to justify their use only in the patients with total occlusion of a renal artery. 3. Thus LNR-RVH is common in patients with longstanding hypertension without a totally occluded renal artery. Since the sensitivity of renin measurements is low, cure of hypertension would be precluded for more than one third of RVH patients, if these tests were a prerequisite for identifying RVH.

Esophageal motor function in patients with myotonic dystrophy.

To investigate pharyngeal and esophageal motor function in myotonic dystrophy (MD), and its relationship to esophageal symptoms, we used low-compliance, high-fidelity esophageal manometry and videofluorography to evaluate 14 consecutive MD patients. Patients exhibited a consistent, typical motor pattern, involving a marked reduction in resting tone of both the upper and lower esophageal sphincters, and a reduction in contraction pressure in the pharynx and throughout the esophagus. Radiology showed hypotonic pharynx with stasis and a hypo- or amotile, often dilated, esophagus. These findings were nonspecific, however, being present in patients both with and without dysphagia, which suggests that MD patients have valid compensatory mechanisms. Dysphagia only correlated to the pharyngeal impairment at manometry. Furthermore, the results of our study suggest that not only the proximal, striated part of the gullet, but also the distal part (in which smooth muscle dominates) is involved in the disease. The latter leads to the impairment of the LES resting tone and competence, highlighting the risk of gastroesophageal reflux disease in these patients.

[The preoperative chemoembolization of hepatocarcinoma due to cirrhosis]. / La chemioembolizzazione preoperatoria dell'epatocarcinoma su cirrosi.

PURPOSE: To investigate clinical value and tumor response of preoperative transcatheter arterial chemoembolization for hepatocellular carcinoma (HCC) secondary to cirrhosis. MATERIALS AND METHODS: The clinical, radiologic and histologic findings were reviewed relative to 13 cirrhotic patients operated on for HCC after chemoembolization with an emulsion of Lipiodol UF and epirubucin; additional gel-foam embolization was performed in 12 cases. RESULTS: The mean survival was 24 months. Three patients died within 1 month after surgery; 2 other patients died 10 and 32 months after surgery, respectively. The 2-year recurrence rate was 40%. Tumor size, the grade of iodized oil retention and the embolization technique affected primary tumor necrosis ratio: most of satellite nodules and capsular invasions were persistently viable at histology. CONCLUSIONS: Preoperative chemoembolization neither facilitates, nor contraindicates, HCC surgery. Nevertheless, chemoembolization should always be performed before surgery first to stage the patients with Lipiodol CT and second to administer the first palliation whenever the patient is ineligible for surgery.