Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2.

BACKGROUND AND PURPOSE: Structural MR imaging does not enable reliable differentiation of spinocerebellar ataxia (SCA) types 1 and 2 (SCA1 and SCA2), and imaging may be normal during the first years after the onset of symptoms. We aimed at determining whether measurements of the apparent diffusion coefficient (ADC) and fractional anisotropy (FA) may enable their differentiation. MATERIALS AND METHODS: We enrolled 14 patients with SCA1, 11 with SCA2, and 9 age-matched controls. Diffusion tensor imaging (DTI) was performed on a 1.5T scanner, with b = 1000s/mm2 and 12 directions. ADC and FA were measured by means of regions of interest, positioned in the corticospinal tract at the level of the cerebral peduncle and at the level of the pons, in the transverse pontine fibers, in the superior and middle cerebellar peduncle, and in the hemispheric cerebellar white matter. RESULTS: With respect to controls, the ADC was significantly elevated in the middle cerebellar peduncle and in hemispheric white matter in SCA1, and in all regions under consideration in SCA2. It was significantly higher in SCA2 than in SCA1 in all regions under consideration. With respect to controls, the FA was significantly reduced in all regions under consideration in SCA1 and in SCA2. It was significantly lower in SCA2 than in SCA1 in the transverse pontine fibers and in the corticospinal tract at the level of the cerebral peduncle. Correlations with clinical scores were found. CONCLUSIONS: DTI did not enable differentiation between SCA1 and SCA2. However, strongly significant differences between the 2 subtypes and with respect to controls and correlations with clinical scores were found.

Imaging degeneration of the substantia nigra in Parkinson disease with inversion-recovery MR imaging.

BACKGROUND AND PURPOSE: Visualizing with MR imaging and obtaining quantitative indexes of degeneration of the substantia nigra in Parkinson disease have been long-sought goals. We investigated the potential role of area and T1 contrast measurements in differentiating patients from controls and their age-related changes. METHODS: Eight patients with Parkinson disease, 8 age-matched controls, and 8 young controls were imaged. We obtained the pixel-wise difference between 2 sets of inversion-recovery images, acquired parallel to the bicommissural plane, with different inversion times. Pixel-intensity ratios between lateral and medial nigral regions, and nigral area and substantia-nigra/midbrain area ratios were computed. RESULTS: Compared with that of controls, loss of substantia nigra was evident in patients, its borders taking a smoother and more irregular appearance. Patients were characterized by a lateral-to-medial gradient, due to reduced hypointensity of the lateral portion of the substantia nigra and relative sparing of its medial portion. The visible nigral area was significantly smaller in patients compared with matched controls (P = .04). The substantia nigra/midbrain area ratio enabled considerably better separation (P = .0001). The lateral/medial pixel-intensity ratio was significantly higher in patients compared with matched controls (P = .01) and in young controls compared with age-matched controls (P = .01). CONCLUSION: Inversion-recovery sequences may provide a convenient way to visualize nigral degeneration. Relative area and pixel-intensity measurements may integrate other techniques (such as diffusion-tensor imaging on nigrostriatal pathways) in the neuroradiologic diagnosis and follow-up of Parkinson disease by quantitatively assessing the degeneration of the substantia nigra.

Persistent fixed torticollis due to Atlanto-axial rotatory fixation: report of 4 pediatric cases.

Atlanto-axial rotatory fixation (AARF) is a rare cause of childhood torticollis that may occur spontaneously or in association with trauma and upper respiratory infections. We describe the clinical findings, as well as the effectiveness of imaging in the diagnosis and the treatment of 4 children with AARF, in whom acute fixed non-dystonic torticollis was the presenting symptom. Onset of torticollis was spontaneous in Case 1, after general anesthesia for cholesteatoma surgery in Case 2, after a trauma in Case 3, and during hypersomnia in Case 4. Duration of torticollis prior to diagnosis was 3 months in the first two patients and 20 days in the other two. All the patients underwent cervical X-rays examinations, which were not contributory to the diagnosis, followed by CT, which demonstrated C1-C2 rotatory fixation. One patient had a spontaneous resolution; treatment with Gardner's tongs and soft collar permitted restoration of the normal alignment in the other 3 patients. AARF must be considered in all the patients with persistent painful torticollis.

Non-alcoholic fatty liver disease: a multicentre clinical study by the Italian Association for the Study of the Liver.

AIM: To define the characteristics of the Italian patient presenting non-alcoholic fatty liver disease. PATIENTS AND METHODS: A total of 305 patients with abnormally high plasma aminotransferase and/or gamma-glutamyl-transpeptidase levels for at least 12 months, with no known cause of chronic liver damage, were consecutively enrolled in the study. Clinical, routine biochemical and liver histology investigations were carried out in all patients. Also evaluated were: (a) oral glucose load; (b) insulinaemia and insulin-resistance using the HOMA test model; and (c) plasma endotoxaemia, total antioxidant plasma capability, tumour necrosis factor-alpha, plasma interleukin-6 and -10 levels. Malondialdehyde and 4-hydroxynonenal content were determined on liver samples from 120 patients. RESULTS: The majority of patients were young overweight or obese males, with dyslipidaemia (20-60%), diabetes (10.5%), hyperinsulinaemia (40%), hyperferritinaemia (35%). Endotoxaemia was negative in all patients and cytokines were only sporadically altered. Total antioxidant plasma capability was decreased in 38.4% of the patients. Eighty percent of the cases had histological steatosis with a mild degree of inflammation and fibrosis. Seven patients had cirrhosis. Lipid peroxidation markers were increased in 90% of the cases, inversely correlated with fibrosis. Even if at univariate analysis, age, ferritin and tissue 4-hydroxynonenal were independent factors of steatosis (P < 0.01), and insulin, HOMA and ferritin of inflammation and fibrosis (P < 0.01), at multivariate analysis no single factor was found to be an independent predictor of hepatic lesions. CONCLUSIONS: The typical Italian patient with non-alcoholic fatty liver disease is a young male, obese, not diabetic, with a variable incidence of dyslipidaemia and hyperinsulinaemia. Only liver biopsy may define the type of liver damage.

Dengue virus surveillance: the co-circulation of DENV-1, DENV-2 and DENV-3 in the State of Rio de Janeiro, Brazil.

This study presents the results obtained in the monitoring of dengue virus (DENV) transmission in the Greater Metropolitan Region of the State of Rio de Janeiro, in the period 2000-2001. A total of 5324 serum samples from suspected cases of dengue were analysed in order to confirm dengue infection. The introduction of DENV-3 to the region in December 2000 resulted in the co-circulation of three serotypes: DENV-1, DENV-2 and DENV-3. In this study, virus isolation and/or reverse transcriptase PCR (RT-PCR) confirmed 52.3% (42/79) of DENV-3 cases, showing the importance of acute serum samples in the virological surveillance of the disease. Despite the introduction of a new serotype, an outbreak due to DENV-1 was observed in the municipality of Niteroi. The restriction site-specific PCR (RSS-PCR) patterns obtained for DENV-1 and DENV-2 isolated in that period showed that those strains belonged to the subtypes previously circulating in the state. DENV-3 RSS-PCR patterns confirmed that these viruses belonged to subtype C (Sri Lanka/India strains), represented by the strain circulating on the American continent. These data showed the importance of an active surveillance programme in countries where dengue is endemic.

Neuroradiological features of vertigo.

The diagnostic pathway in a patient with vertigo starts with the accurate evaluation of medical history followed by a general physical and neurological examination. This step can often lead to the identification of the correct cause of the disease or, at least, to a distinction between peripheral and central vertigo. Neuroradiological investigations have to be considered as elective diagnostic procedures and include: computed tomography (CT), magnetic resonance (MR), MR angiography (MRA), angiography. For the diagnosis of peripheral vertigo, benign paroxysmal positional vertigo, labyrinthitis, Meniere disease, perilymphatic fistula, local trauma, toxic labyrinthitis, acute otitis media and chronic middle ear effusion,the role of imaging techniques is controversial. CT and MR are performed to rule out other pathologies and to confirm the diagnosis. Increased resolution and application of special MR sequences enhancing the intralabyrinthine fluids have enabled more detailed analysis of labyrinthine structures and pathology. Both T2 and T1 contrast sequences are necessary. A high resolution CT study is required when otitis media is suspected and in the follow-up of post-traumatic vertigo. The causes of central vertigo are numerous and include: vertebro-basilar circulation vascular events, multiple sclerosis (MS), migraine-associated vertigo, cerebellar and brainstem tumors, CNS infections. Among them cerebrovascular ischemia and multiple sclerosis are the most frequent. In these situations imaging studies become mandatory. CT can diagnose most cerebellar hemorrhages and some cerebellar and brainstem acute ischemia, enhanced MR has proved to be the most sensitive tool to detect posterior fossa lesion. Diffusion-weighted MR can reveal acute ischemic changes before routine MR. There has been evidence that MR angiography, providing angiogram-like images of the intracranial vessels may sometimes avoid invasive angiography. MRA resolution is not as good as traditional angiography and may also be compromised by movements and other artifacts. Selective angiography of the posterior circulation is often indicated for therapeutic decisions.

Reduced quality of life of patients with hepatocellular carcinoma.

BACKGROUND: It has been shown that health-related quality of life is reduced in patients with cirrhosis and with chronic hepatitis in relation to antiviral therapy. No data are available on patients with hepatocellular carcinoma. AIM: To assess health-related quality of life in cirrhotic patients with hepatocellular carcinoma. PATIENTS AND METHODS: Health-related quality of life was assessed in 101 hepatocellular carcinoma patients by means of Short Form-36 and Nottingham Health Profile questionnaires. Final scores of domains for individual patients were compared to age-adjusted normative Italian values, using Z-score and with values obtained in 202 matched patients with cirrhosis, without hepatocellular carcinoma. RESULTS: All Short Form-36 domains and 4 out of 6 Nottingham Health Profile domains were altered. When hepatocellular carcinoma patients were compared with matched cirrhotics, differences were present for Bodily Pain, Role Limitation-Physical, and the Physical Component Summary of Short Form-36, as well as Pain of Nottingham Health Profile. Perceived health status had changed significantly in the year prior to assessment. Health-related quality of life was not primarily related to tumour mass or hepatocellular failure, whereas sleep disorders were selected by logistic regression as strongly associated with poor health-related quality of life. CONCLUSIONS: The present data stress the relevance of pain in poor perceived health status of hepatocellular carcinoma patients, and the importance of minor symptoms, such as sleep disorders.

Genetic characterization of dengue virus type 3 isolates in the State of Rio de Janeiro, 2001.

The genetic characterization of dengue virus type 3 (DEN-3) strains isolated from autochthonous cases in the State of Rio de Janeiro, Brazil, in 2001 is presented. Restriction site-specific (RSS)-PCR performed on 22 strains classified the Brazilian DEN-3 viruses as subtype C, a subtype that contains viruses from Sri Lanka, India, Africa and recent isolates from Central America. Nucleic acid sequencing (positions 278 to 2550) of one DEN-3 strain confirmed the origin of these strains, since genotype III - classified by sequencing - and RSS-PCR subtype C are correlated. This genetic subtype has been associated with hemorrhagic dengue epidemics and the information provided here could be useful to implement appropriate prevention and control measures.

BMRI in early detection of breast cancer in patients with increased genetic risk: our preliminary results.

Because of the higher risk of developing breast cancer and the early onset of the disease in women proved or suspected to be carriers of a breast cancer susceptibility gene, a dedicated screening should be offered as a less invasive approach with respect to the otherwise suggested prophylactic mastectomy. This should be optimized in order to overcome the limitations of conventional breast imaging with the application of new technologies such as Breast Magnetic Resonance Imaging (BMRI). A diagnostic protocol for routine control in patients with high risk for developing breast cancer has been prepared. Within a 7 months period, 23 patients suspected or proved to carry a breast cancer susceptibility gene underwent BMRI. Four breast cancers were identified with BMRI. In these cases mammography was negative because of the density of the parenchyma or for its fibroglandular pattern. US was negative in two cases, not specific for malignancy in one case and considered as only possibly malignant but with biopsy recommendation on the basis of MR findings in the last one. Clinic analysis was positive for mass in two cases. The accuracy of BMRI is known to be higher than that of conventional imaging in the study of breast parenchyma. High spatial resolution and no breast density influence can give more detailed information about smaller lesions and the right extent of the disease.

The Italian multi-centre project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk.

This report presents the preliminary results of the first phase (21 months) of a multi-centre, non-randomised, prospective study, aimed at evaluating the effectiveness of contrast-enhanced magnetic resonance imaging (MRI), X-ray mammography (XM) and ultrasound (US) in early diagnosis of breast cancer (BC) in subjects at high genetic risk. This Italian national trial (coordinated by the Istituto Superiore di Sanità, Rome) so far recruited 105 women (mean age 46.0 years; median age 51.0; age range 25-77 years), who were either proven BRCA1 or BRCA2 mutation carriers or had a 1 in 2 probability of being carriers (40/105 with a previous personal history of BC). Eight cases of breast carcinomas were detected in the trial (mean age 55.3 years, median age 52.5; age range 35-70 years; five with previous personal history of BC). All trial-detected BC cases (8/8) were identified by MRI, while XM and US correctly classified only one. MRI had one false positive case, XM and US none. Seven "MRI-only" detected cancers (4 invasive, 3 in situ) occurred in both pre- (n = 2) and post-menopausal (n = 5) women. With respect to the current XM screening programmes addressed to women in the age range 50-69 years, the global incidence of BC in the trial (7.6%) was over ten-fold higher. The cost per "MRI-only" detected cancer in this particular category of subjects at high genetic risk was substantially lower than that of an XM-detected cancer in the general women population. These preliminary results confirmed that MRI is a very useful tool to screen subjects at high genetic risk for breast carcinoma, not only in pre-, but also in post-menopausal age, with a low probability of false positive cases.

Stereotactic breast biopsy: en bloc excision of microcalcifications with a large-bore cannula device.

OBJECTIVE: Breast calcifications pose a significant diagnostic and procedural dilemma. We evaluated en bloc stereotactic excision of indeterminate and suggestive microcalcifications for histologic diagnosis using a large-bore cannula biopsy device. MATERIALS AND METHODS: We retrospectively reviewed 61 groups of microcalcifications removed with a large-bore cannula biopsy device from 59 patients (age range, 35-72 years old). The cannula diameter was 20 mm in 47 cases, 15 mm in nine cases, and 10 mm in five cases. The median lesion diameter was 6.6 mm (range, 4-17 mm). The procedure was performed by radiologists in an outpatient setting, with patients undergoing local anesthesia. All patients with a diagnosis of malignancy underwent surgery. RESULTS: In all instances, microcalcifications were removed in a single pass, in a single intact tissue specimen, through a maximum skin incision of 2 cm (0.8 inch). Twenty-five malignancies, 34 benign lesions, and two cases of lobular carcinoma in situ were identified. Sixteen malignancies were noninvasive and nine were invasive. No residual tumor was found at surgery in six of the 18 cases with involved margins and in five of the seven cases with uninvolved margins. One case of lobular carcinoma in situ with involvement of the margins additionally showed ductal carcinoma in situ at surgery. CONCLUSION: Mammographically identified microcalcifications are excised en bloc with the large-bore cannula biopsy device, providing a stereotactically localized tissue sample that is comparable with that obtained with open surgical biopsy and allows evaluation of the margins. This surgical radiologic procedure may represent a valid alternative, in selected patients, to conventional surgical biopsy after radiologic localization.

Laparoscopic antegrade biliary stenting for postoperative endoscopic clearance of biliary stones.

Unsuspected ductal stones discovered during laparoscopic cholecystectomy may necessitate conversion to an open procedure, laparoscopic extraction, or postoperative endoscopic papillotomy. In order not to lose the advantages of a minimally invasive treatment and to decrease the likelihood of postoperative endoscopic failure, laparoscopic antegrade biliary stenting was attempted in 10 unselected patients (8 women, 2 men; mean age 52 +/- 11.4 years) with intraoperatively detected common bile duct stones. The mean diameter of these stones was 7 mm (range 5-11 mm). One stenting failed because of stone impaction, but the procedure was successful with effective biliary drainage in nine patients. The mean operative time was 70 (range 50-165) minutes. Subsequent ERCP was performed a mean of 8 (range 6-20) days after surgery. Deep cannulation, stent-guided papillotomy, and duct clearance was achieved in all stented patients, without any complication. Laparoscopic antegrade biliary stenting provides a guide for subsequent endoscopic stone removal, minimizing the risks of either stent migration or endoscopic failure. This combined technique is safe and cost effective and may be considered when ductal stones are discovered unexpectedly during laparoscopic cholecystectomy.

Endoclip-assisted resection of large pedunculated colon polyps.

BACKGROUND: Large pedunculated colorectal polyps are often difficult to remove endoscopically. METHODS: Four patients with giant pedunculated polyps (>3 cm) underwent an endoscopic procedure in which the polyp stalk was ligated with multiple clips and resected with a needle-knife papillotome. RESULTS: No complications occurred either during or immediately after the procedure. Mean size of the resected polyps was 4.8 +/- 1.2 cm (range 3 to 6 cm). Mean time for the entire procedure was 31 +/- 5 minutes (range 25 to 45). No bleeding was found after a mean follow-up period of 4.3 +/- 1.1 months (range 3 to 6 months). CONCLUSIONS: Although technical refinements are necessary to make the procedure easier and faster, this approach might represent the only option for selected patients who would otherwise need surgical resection of large pedunculated colonic polyps.