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A case of unusual transmission by Plasmodium falciparum malaria is reported. The patient, had not been travelling outside North-West of Italy for the previous 6 months, he was not drug abuser. He had spent the last two months prior his admission, partly in his home town, an urban area in the region of Piemonte, and partly in a resort area on the Ligurian sea. Neither place has ever been associated with unusual malaria transmission. The possible transmission way is through a live vector imported from endemic area in a port terminal near a resort area.  相似文献   
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Summary. A kindred with hereditary spherocytosis and β-thalassaemia trait was identified. Detailed studies of the red cell membrane proteins on polyacrylamide gels with sodium dodecyl sulphate (SDS-PAGE) demonstrated the presence of band 3 (anion transporter) deficiency in all HS subjects (20–25% reduction) whereas spectrin content was in the normal range. The molecular defect of β thalassaemia in this kindred was due to a β° codon 39 (C-T) mutation, as assessed by β globin gene amplification and ASO-probe hybridization. Seven subjects of this family were studied: two were normal, two had HS alone, two co-inherited HS and β-thalassaemia trait, and one had β-thalassaemia trait only. The two subjects with HS alone had a typical clinical form of spherocytosis with anaemia, reticulocytosis and increased red cell osmotic fragility. The two with both HS and β-thalassaemia trait were not anaemic and showed a small, well-compensated haemoIysis. Hence the finding of red cells with abnormalities of both HS and β-thalassaemia indicates that β-thalassaemic trait 'silences' HS caused by band 3 deficiency.  相似文献   
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Hb A2 was determined in 50 subjects with erythrocyte G-6-PD deficiency who presented with hyperbilirubinemia in the neonatal period and in 100 non-hyperbilirubinemic G-6-PD deficient newborn infants, at the age of 12 months or more. Six subjects in the first group and 13 in the second were found to be carriers of the -thalassemia trait. Statistical analysis of the data did not show any significant difference between the two groups. It seems that the -thalassemia trait does not provide any protection against neonatal hyperbilirubinemia associated with G-6-PD deficiency.  相似文献   
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AIMS: To assess the diagnostic accuracy of endometrial biopsy by means of the hysteroscopic resectoscope (EBHR) in evaluating tumor differentiation in patients with endometrial cancer. METHODS: Between January and December 2005, all the women with a diagnosis of endometrioid adenocarcinoma of the uterus, when admitted to hospital, were enrolled for this study. Patients eligible for surgical treatment underwent a preoperative work-up consisting in pelvic magnetic resonance imaging (MRI) and EBHR. In all patients submitted to a hysterectomy, a comparison between pre- and postoperative tumor grade was carried out. RESULTS: 42 women were enrolled in the study. Hysteroscopic biopsy was carried out in 39 patients (mean age 62.5 years, range 33-79; FIGO stage I: 34, stage II-IV: 5). No complication related to hysteroscopy was observed. The preoperative tumor grade by hysteroscopy correlated with the final grade in 97.1% of cases. No patient had positive peritoneal washing and after a median follow-up of ten months no intraperitoneal tumor relapse was observed. CONCLUSION: EBHR is a very accurate diagnostic procedure for assessing the preoperative tumor grade in patients with endometrial cancer.  相似文献   
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Vectors derived from adeno-associated virus (AAV) are promising for human gene therapy, including treatment for retinal blindness. One major limitation of AAVs as vectors is that AAV cargo capacity has been considered to be restricted to 4.7 kb. Here we demonstrate that vectors with an AAV5 capsid (i.e., rAAV2/5) incorporated up to 8.9 kb of genome more efficiently than 6 other serotypes tested, independent of the efficiency of the rAAV2/5 production process. Efficient packaging of the large murine Abca4 and human MYO7A and CEP290 genes, which are mutated in common blinding diseases, was obtained, suggesting that this packaging efficiency is independent of the specific sequence packaged. Expression of proteins of the appropriate size and function was observed following transduction with rAAV2/5 carrying large genes. Intraocular administration of rAAV2/5 encoding ABCA4 resulted in protein localization to rod outer segments and significant and stable morphological and functional improvement of the retina in Abca4(-/-) mice. This use of rAAV2/5 may be a promising therapeutic strategy for recessive Stargardt disease, the most common form of inherited macular degeneration. The possibility of packaging large genes in AAV greatly expands the therapeutic potential of this vector system.  相似文献   
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To determine the possibility of using nuclear magnetic resonance imaging to study experimentally induced lung injury, we measured in the lungs of spontaneously breathing living rats the time course of both the Hahn spin-echo decay (T2) and the proton density after endotoxin injury. In order to minimize artifacts arising from motions of the nearby chest wall and heart, we used a motion-insensitive technique (the interleaved line scan). A typical Hahn T2 measurement was obtained over a region of interest from a series of images each with a different echo time, which ranged from 16 to 110 ms. Lung water content was determined by integrating the proton density over the region of interest. The Hahn T2 and proton density were measured before and at 1, 3, 6, and 9 h after intravenous injection of endotoxin. The effects of the treatment administered before and after endotoxin injection were also evaluated. Endotoxin treatment caused lengthening of both fast (T2f) and slow (T2s) Hahn T2 components but had no significant effect on the proton density, consistent with the notion that endotoxin causes lung injury without significant lung water accumulation in rats. However, the methylprednisolone treatment prevented the lengthening of T2s but did not seem to have a significant effect on T2f. Our results suggest that NMR imaging can be used to detect and monitor experimental lung injury in intact living animals, even in the absence of variations of lung water content.  相似文献   
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