Redefining the Pulvinar Sign in Fabry Disease.

BACKGROUND AND PURPOSE: The pulvinar sign refers to exclusive T1WI hyperintensity of the lateral pulvinar. Long considered a common sign of Fabry disease, the pulvinar sign has been reported in many pathologic conditions. The exact incidence of the pulvinar sign has never been tested in representative cohorts of patients with Fabry disease. The aim of this study was to assess the prevalence of the pulvinar sign in Fabry disease by analyzing T1WI in a large Fabry disease cohort, determining whether relaxometry changes could be detected in this region independent of the pulvinar sign positivity. MATERIALS AND METHODS: We retrospectively analyzed brain MR imaging of 133 patients with Fabry disease recruited through specialized care clinics. A subgroup of 26 patients underwent a scan including 2 FLASH sequences for relaxometry that were compared with MRI scans of 34 healthy controls. RESULTS: The pulvinar sign was detected in 4 of 133 patients with Fabry disease (3.0%). These 4 subjects were all adult men (4 of 53, 7.5% of the entire male population) with renal failure and under enzyme replacement therapy. When we tested for discrepancies between Fabry disease and healthy controls in quantitative susceptibility mapping and relaxometry maps, no significant difference emerged for any of the tested variables. CONCLUSIONS: The pulvinar sign has a significantly lower incidence in Fabry disease than previously described. This finding, coupled with a lack of significant differences in quantitative MR imaging, allows hypothesizing that selective involvement of the pulvinar is a rare neuroradiologic sign of Fabry disease.

Detection of papillomavirus DNA in formalin-fixed paraffin-embedded equine aural plaque samples / Detecção do DNA de papilomavírus em amostras de placa aural equina fixadas em formalina e embebidas em parafina

A placa aural é uma dermatopatia associada à quatro Equus caballus papillomavirus (EcPVs). Até o momento, o DNA de EcPVs não foi identificado em amostras de placa aural fixadas em formalina e embebidas em parafina (FFPE). O objetivo deste estudo foi otimizar um método para a detecção dos quatro tipos de EcPVs em 21 amostras FFPE usando a PCR. O DNA dos EcPVs foram detectados em 11 amostras (52.4%). O DNA do EcPV4 foi detectado em 38.1% (8/21) e do EcPV3 em 4.8% (1/21) das amostras. Coinfecção foi identificada em duas amostras (9.5%); EcPV4 e 5 foram detectados simultaneamente em uma amostra, enquanto o DNA dos EcPV4 e 6 foi detectado em outra. A especificidade do DNA dos papilomavírus equinos foi avaliada por sequenciamento gênico direto, que confirmou a especificidade dos produtos. A metodologia de PCR proposta possibilita o diagnóstico dos EcPV3, 4, 5 e 6 em amostras FFPE de placa aural equina.(AU)

C-reactive protein in viral and bacterial gastroenteritis in childhood.

To differentiate bacterial from viral infections the level of C-reactive protein in serum samples was studied in three groups of children under 5 years of age with gastroenteritis. Of the 53 children with bacterial infection, 41 (77%) had C-reactive protein levels > or = 12 mg1 -1, 32 (66%) > or = 20 mgl-1 and 24 (45%) > or = 35 mgl-1. Of the 35 patients with viral infection, 4 (11%) had C-reactive protein levels > or = 12 mgl-1, 3 (9%) > or = 20 mgl-1 and 1 (3%) > or = 35 mgl-1. The best balance between sensitivity and specificity of C-reactive protein was obtained for a cut-off level > or = 12 mgl-1 (sensitivity 77%, specificity 89%) as compared to > or = 20 mgl-1 (sensitivity 58%, specificity 97%) and > or = 35 mgl-1 (sensitivity 44%, specificity 97%). Our results suggest that the determination of C-reactive protein values may be a useful tool for predicting bacterial gastroenteritis in children.

[Meningeal carcinomatosis from pulmonary adenocarcinoma: two clinical cases with review of the literature]. / Carcinomatosi meningeale da adenocarcinoma polmonare: presentazione di un caso clinico e revisione della letteratura.

The case of a 68-year-old woman with lung adenocarcinoma complicated by apparently isolated widespread meningeal metastasis is described. Meningeal carcinomatosis is a rare complication of solid neoplasms. In fact, it occurs in less than 2% of lung carcinoma which is the most frequent cause of this syndrome. Although computed tomography and nuclear magnetic resonance may aid the diagnosis of this condition, only the cytological demonstration of neoplastic cells in the cerebrospinal fluid directly establishes it. In this patient, the onset of symptoms due to meningeal carcinomatosis complicated the course of a diagnosed lung adenocarcinoma with the acute onset of a confusional state and extended meningeal dissemination without clinical or instrumental findings of metastasis in other areas of the body. Acute confusional state is seldom the initial symptom of meningeal carcinomatosis. Nevertheless, in the neoplastic patient, this possibility must be taken into account after the most common causes of acute confusion have been excluded. Even when modern diagnostic imaging techniques are utilized, diagnosis must be confirmed by cytological examination of the cerebrospinal fluid.

[Metabolic aspects of intestinal urinary diversion. Comparison with ileo-cecal bladder substitution and ileal conduct]. / Aspetti metabolici della derivazione urinaria intestinale. Confronto tra vescica ileo-cecale di sostituzione e condotto ileale.

The aim of this study was the metabolic evaluation of 10 patients with 2 different types of urinary diversions, after cystectomy for infiltrating carcinoma. The patients were divided into two groups, homogeneous for age and follow up, according to the type of urinary diversion: group A (5 patients with ileo-cecal bladder) and group B (5 patients with ileal conduit). The follow up duration was 16.8 +/- 7.3 months in group A and 25.4 +/- 7.8 months, in group B. Even though the glomerular filtration rate (GFR) in both groups was within the normal limits, however - on closer evaluation - patients of A group revealed a slight functional damage, shown by reduced creatinine secretion, lower bicarbonatemia and lower urinary acid secretion when compared with ileal conduit patients. According to this study, the ileal conduit seems to be associated with a fairly good metabolic status while the ileo-cecal bladder could require closer clinical-metabolic follow up and bicarbonate supplementation.

Metabolic complications of the urinary intestinal diversion: ileo-caecal bladder compared with ileal conduit.

Five patients with an ileal conduit and 5 with an ileo-caecal bladder substitute have been studied metabolically. All had undergone cystectomy for infiltrating carcinoma and they formed 2 homogeneous groups in terms of age and follow-up. Function in both groups was within normal limits but closer examination of patients with an ileo-caecal bladder revealed mild functional damage as shown by reduced creatinine secretion, a lower level of bicarbonate and lower urinary acid valency secretion. It was concluded that the ileal conduit is more satisfactory from a metabolic point of view than the ileo-caecal bladder, which requires closer follow-up and treatment with bicarbonates if necessary.

Diagnostic and therapeutic problems in multicentric renal angiomyolipoma.

Multicentric renal angiomyolipoma is a rare form of benign tumor. However, its effective incidence as evaluated in autopsy studies may be as high as 8%. There are 2 main types of renal angiomyolipoma, that is isolated forms and those associated with other diseases, such as phakomatosis, polycystic kidneys and fibromuscular dysplasia. The tumor may also display malignant behavior with local invasiveness and regional lymph node involvement. However, the clinical course is benign and multicentricity is important for prognosis. Histopathological diagnosis often is difficult. Immunohistochemical analysis of surgical specimens using a panel of monoclonal antibodies, including HMB-45 and actin, enabled us to make a definitive diagnosis in 3 cases of multicentric renal angiomyolipoma.

Uretero-ileocecocapsuloplasty. Preliminary reports.

A uretero-ileocecocapsulaplasty and ileal patch operation was performed on seven patients following cystectomy. All the patients were carefully selected cases of unifocal T2, T3 vesical carcinoma localized at least 2-3 cm from the bladder neck. Vesical mapping and intraoperative histological examination of resection edges were negative. The operative technique is described together with early clinical and urodynamic findings.

[Aneurysms of the left sinus of Valsalva]. / Aneurismi del seno di Valsalva sinistro.

The acquired aneurysm of the left aortic sinus is a rare lesion. We observed two cases: the former ruptured in the left ventricle, the latter in the right ventricle. Both cases were identified by echocardiographic examination. The diagnosis was confirmed by the cardiac catheterization and aortography and then at cardiac surgery. In the latter case the diagnosis of rupture was done using Doppler technique. Our experience indicates that, at least in selected cases, the diagnosis of aneurysm of Valsalva sinus and that of rupture are possible by means of two-dimensional and Doppler echocardiography.