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1.
Navas Pastor J Ferrero Doria R Guzmán Martínez-Valls PL Morga Egea JP García Ligero J Tomás Ros M Rico Galliano JL Sempere Gutiérrez A Fontana Compiano LO 《Actas urologicas espa?olas》1999,23(1):22-27
Presentation of eight cases of urinary candidiasis in patients who underwent radical cystectomy and were managed using by-pass of the urinary tract, oral antifungal therapy and solutions in the way of intermittent instillation through nephrostomy catheters. 相似文献
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Carmelo Urso Lorenzo Borgognoni Morena Doria Galliano Tinacci and Enzo Zini 《Journal of cutaneous pathology》2009,36(5):586-590
We report a 20-year-old male patient with an atypical Spitz tumor, located in the dorsal aspect of his left hand, and a positive sentinel axillary lymph node. After lymphadenectomy, 1 of 23 non-sentinel lymph nodes excised was found to contain small multiple deposits of large spindle atypical melanocytes. Reviewing the pertinent literature, 5 of 29 patients with atypical Spitz tumors and positive sentinel nodes who had undergone lymphadenectomy have shown non-sentinel node involvement (17.2%), a proportion similar to that reported in melanoma patients. The exact nature of atypical Spitz tumors and the interpretation of cell deposits detected in sentinel nodes are still debated; data regarding the non-sentinel lymph node involvement in patients with atypical Spitz tumors may contribute to better understand the real biological potential of such tumors. 相似文献
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Campagnoli M Hansson P Dolcini L Caridi G Dagnino M Candiano G Bruschi M Palmqvist L Galliano M Minchiotti L 《Clinica chimica acta; international journal of clinical chemistry》2008,396(1-2):89-92
BACKGROUND: Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin. Here we report the first case of hereditary analbuminemia in the ethnic Swedish population, and we define the molecular defect that causes the analbuminemic trait. METHODS: Total DNA, extracted from peripheral blood samples from the analbuminemic proband and his parents, was PCR-amplified using oligonucleotide primers designed to amplify the 14 exons, the exon-intron splice junctions, and the 5' and 3' untranslated regions of the albumin gene. The products were screened for mutations by single-strand conformation polymorphism and heteroduplex analyses. The latter allowed the identification of the abnormal fragment, which was then sequenced. RESULTS: The analbuminemic trait of the proband was caused by a homozygous AT deletion at nucleotides c. 228-229, the 91st and 92nd bases of exon 3. This defect, previously identified as Kayseri mutation [M. Galliano, M. Campagnoli, A. Rossi, et al. Molecular diagnosis of analbuminemia: a novel mutation identified in two Amerindian and two Turkish families. Clin Chem 2002;48: 844-849.], produces a frameshift leading to a premature stop, two codons downstream. CONCLUSIONS: The Kayseri mutation appears to be the most common cause of analbuminemia in humans, and is found in individuals belonging to geographically distant, and apparently unrelated ethnic groups. 相似文献
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M Galliano U Kragh-Hansen A L Tárnoky J C Chapman M Campagnoli L Minchiotti 《Clinica chimica acta; international journal of clinical chemistry》1999,289(1-2):45-55
The molecular defects of three different slow-migrating genetic variants of human serum albumin, albumins Kamloops (formerly RIH), Stirling and Amsterdam, previously characterized only by electrophoretic and dye-binding studies, are now reported. Two of them are proalbumin variants: sequential analysis of the purified whole proteins has established the mutation responsible for albumin Kamloops as -1Arg-->Gln, and for albumin Stirling as -2Arg-->His. A Glu-->Lys substitution in position 570 of the mature albumin molecule was determined in albumin Amsterdam by sequential analysis of two abnormal tryptic fragments. The three alloalbumins are caused by single-base changes all of which seem to represent hot-spots in the albumin gene. The possible functional consequences of the presence of a circulating alloalbumin are discussed. 相似文献
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