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The present case report was aimed at identifying the molecular profile characteristic of a primitive neuro-ectodermal tumor (PNET) in a 3-year-old child affected by a lesion localized in the cerebellar region. The histological diagnosis was medulloblastoma. In vivo single voxel 1H magnetic resonance spectroscopy (MRS) shows high specificity in detecting the main metabolic alterations in the primitive cerebellar lesion; a very high amount of the choline-containing compounds and very low level of creatine derivatives and N-acetylaspartate. Ex vivo high resolution magic angle spinning (HR-MAS) 1H magnetic resonance spectroscopy, performed at 9.4 Tesla on the neoplastic specimen collected during surgery, allows for the unambiguous identification of several metabolites giving a more in-depth evaluation of the metabolic pattern of the lesion. The ex vivo HR-MAS MR spectra show that the spectral detail is much higher than that obtained in vivo and that, for example, myo-inositol, taurine and phosphorylethanolamine contribute to the in vivo signal at 3.2 ppm, usually attributed to choline-containing compounds. In addition, the spectroscopic data appear to correlate with some morphological features of the medulloblastoma. Consequently, the present study shows that ex vivo HR-MAS 1H MRS is able to strongly improve the clinical possibility of in vivo MRS and can be used in conjunction with in vivo spectroscopy for clinical purposes.  相似文献   
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Inactivation of mismatch repair (MMR) genes has been linked to the hereditary nonpolyposis colon cancer syndrome and to a subset of sporadic cancers. A phenotypic characteristic of tumors with defective MMR is microsatellite instability (MSI). Although MSI has been reported in a proportion of cutaneous melanomas, inactivation of MMR genes in this tumor type has not been detected thus far. We recently described a human melanoma cell line, PR-Mel, and a cutaneous metastasis from the same patient, which displayed a MMR defect, and showed high MSI. Here we report that in the PR-Mel cell line both MLH1 alleles are somatically inactivated. One allele is lost through a chromosomal deletion of the region 3p21-24, whereas the remaining allele harbors a G --> A transition at position -1 of the acceptor splice site of intron 15, leading to the in-frame skipping of exon 16. The primary melanoma of the PR patient shows loss of heterozygosity at the BAT21 microsatellite marker, located in the MLH1 gene, and does not express the MLH1 and PMS2 proteins. Moreover, it harbors the same mutation detected in the PR-Mel cells. These results demonstrate that biallelic inactivation of MLH1 had occurred in the primary melanoma of the PR patient and suggest that disruption of MMR might have had a role in the development of the melanoma. This is the first report in which genetic defects leading to disruption of MMR function in a human melanoma have been identified.  相似文献   
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In the last few years there has been an increasing diffusion of endoscopic percutaneous trans-lumbar lithotripsy as a treatment for kidney stones. This technique requires an adequate pyelostomic approach. The authors at this purpose suggest the utilisation of the "One Stick Introducer System Set", that has been created for the biliary tree catheterism as this set is easy to use and rarely traumatic for the patient.  相似文献   
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BACKGROUND AND PURPOSE: The North American and the European Carotid Endarterectomy Trials demonstrated a significant benefit of surgery in preventing stroke for patients with symptomatic hemodynamically significant internal carotid artery (ICA) stenosis. Because the 3 angiographic methods of measuring carotid stenosis provide discrepant results, the indication for surgery depends on the method used for the evaluation of the angiogram. The goal of this study was to verify whether color duplex scanning of the ophthalmic artery alone might be reliable for detection of the extracranial hemodynamically significant ICA stenosis. METHODS: Three groups of patients (351 total patients) with transient ischemic attack or minor stroke referred for possible carotid endarterectomy were examined by means of color duplex scanning of the ICA, transcranial Doppler, color duplex scanning of the ophthalmic artery, and angiography of the ICA. RESULTS: In the first group (n=31) the comparison of findings from each method and the direct measurement of the residual lumen of plaque removed "en bloc" showed that the findings of the ophthalmic artery color duplex scanning, subdivided into 5 categories--NP (normal positive), LP (low positive), NF (no flow), REV (reverse flow), PP (pathological positive)--were associated with the best overall agreement (96.7%). The accuracy of the various categories of the ophthalmic artery color duplex scanning signals was studied in the second group of patients (n=200). The results pointed out that all but low positive categories were associated with high diagnostic accuracy. Finally, the results obtained in the third group (n=120) showed that a significant increase in the specificity of the low positive signal could be obtained by processing this signal in terms of pulsatility index and of transmission of pulsatility index. CONCLUSIONS: Our results suggest that the diagnostic capacity of color duplex scanning for the detection of ICA critical stenosis can be appropriately increased if it is performed also at the level of the ophthalmic artery and if the Doppler signals are processed on the basis of criteria we applied.  相似文献   
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From ARGYLIA RADIATA a non-glycosidic iridoid, the (4a S, 7 S, 7a S)-7-hydroxy-7-methyl-1,4a,5,6,7,7a-heptahydrocyclopenta[ C]pyran-3(4 H)-one, and a bisiridoid, derived from the junction of catalpol and 7-deoxyloganic acid, were isolated.  相似文献   
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Fifty-three patients with T1 squamous cell cancer of the floor of mouth and ventral surface of the tongue with a known clinical outcome were retrospectively analyzed and arbitrarily divided into “aggressive” and “nonaggressive” groups based on their clinical behavior. Various host and tumor factors were then evaluated in an attempt to determine whether the tumor behavior could have been predicted. The paraffin-embedded tumor specimens were evaluated for tumor differentiation, tumor thickness and tumor invasion, microvessel density, and p53 expression. In addition, a composite morphologic grading score was obtained by combining cell differentiation, nuclear polymorphism, mitosis activity, depth of infiltration, type of infiltration, and lymphatic infiltration. No single technique appeared capable of identifying “aggressive” behavior, although possibly an evaluation of composite factors might show promise in the future.  相似文献   
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