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Tirelli G Rigo S Bullo F Meneguzzi C Gregori D Gatto A 《Acta otorhinolaryngologica Italica》2011,31(2):96-102
In order to analyze the diagnostic efficiency of saccadic and pursuit eye movements compared to findings from brain magnetic resonance imaging in patients with central vertigo, 108 patients were selected from 580 dizzy patients as cases of suspected central origin; the saccadic and pursuit eye movements were evaluated by electronystagmography and findings were compared to information from magnetic resonance imaging. The study of oculomotor movements in patients suspected of having a central lesion revealed a 83.3% sensitivity and 21.2% specificity. Restricting consideration to severe alterations in eye movements as indicative of a central origin, this test gives a 71.4% sensitivity and 50.0% specificity. In conclusion, the study of alterations in oculomotor movements, in patients with suspected central lesions, proved to be a test with good sensitivity also compared with results of magnetic resonance imaging. 相似文献
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Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa
Posteraro P De Luca N Meneguzzi G El Hachem M Angelo C Gobello T Tadini G Zambruno G Castiglia D 《The Journal of investigative dermatology》2004,123(4):639-648
Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by dermal-epidermal separation that is caused by mutations in the genes encoding hemidesmosomal components and laminin-5, the major epithelial adhesion ligand. Here, we report on the mutational analysis of LAMA3, LAMB3, and LAMC2 genes encoding laminin-5 chains in 19 Italian patients, 11 affected with the severe Herlitz (H JEB) and eight with the mild non-Herlitz variant of JEB (non-H JEB). Eighteen mutations, seven of which were novel, were identified and their consequences analyzed at the mRNA and protein level. Premature termination codon mutations in both alleles of LAMB3 or LAMC2 genes were found in nine of the 11 H JEB patients, with a prevalence of mutations in LAMC2. In one case, a homozygous frameshift mutation in LAMB3 was associated to illegitimate splicing leading to non-H JEB. One H JEB patient showed a large intragenic duplication within LAMC2, a genetic defect so far uncovered in laminin-5 genes. Splicing or missense mutations, were prevalent in non-H JEB patients. Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2. These recurrent mutations account for approximately 44% of laminin-5 JEB alleles in Italian patients. 相似文献
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Transfer of human papillomavirus type 11 (HPV11) DNA and a neo(r) marker into primary rat embryo cells (REC) led to colony formation in G418-selective medium. About 20% of HPV11 clones were eventually established in culture but displayed low growth rates. Cotransfection of HPV11 DNA and an activated ras oncogene led to formation of both drug-resistant flat colonies and phenotypically transformed clones which grew efficiently when expanded in culture. A number of transformants reverted to a flat, "normal" morphology shortly after isolation. Nontransformed clones expressed only HPV11 genes, while those maintaining a transformed phenotype transcribed both ras and HPV11 genes efficiently and were highly tumorigenic. Expression of HPV11 thus seems, necessary for induction of colony formation, but efficient long-term growth seems to require at least the transient presence of ras. 相似文献
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A Lachaux R Bouvier I Loras-Duclaux J P Chappuis G Meneguzzi J P Ortonne 《Journal of pediatric gastroenterology and nutrition》1999,29(4):395-401
BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. METHODS: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut. 相似文献
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Bentall procedure with the CarboSeal™ and CarboSeal Valsalva™ composite conduits: long-term outcomes
Andrea Lechiancole Igor Vendramin Sandro Sponga Daniela Piani Giovanni Benedetti Matteo Meneguzzi Veronica Ferrara Annarita Tullio Uberto Bortolotti Ugolino Livi 《Interactive Cardiovascular and Thoracic Surgery》2021,33(1):93
Open in a separate windowOBJECTIVESData on the long-term results with the standard CarboSeal™ mechanical conduit used for the modified Bentall procedure are lacking as well as information on performance of the Valsalva CarboSeal™ conduit.METHODSWe have analysed 208 recipients of a standard (n = 110) or a Valsalva (n = 98) CarboSeal™ conduit. The median age was 60 years and 90% were males; 35 (17%) had type A aortic dissection and 65 (30%) a bicuspid aortic valve. Data were retrospectively analysed and results were compared between the 2 conduit models.RESULTSEarly mortality was 1.9%; the mean follow-up was 175 ± 95 for standard and 94 ± 51 months for Valsalva conduits (P < 0.01). Actuarial survival was 86 ± 4%, 75 ± 6%, 59 ± 7% and 51 ± 9% at 5, 10, 15 and 20 years, respectively. There were 13 thromboembolic episodes with 3 deaths with an actuarial freedom of 98 ± 1%, 94 ± 2%, 90 ± 3% and 89 ± 4% at 5, 10, 15 and 20 years, respectively. Reoperation on the aortic root was performed in 9 patients for endocarditis (n = 8) and pseudoaneurysm at the right coronary button (n = 1) with an actuarial freedom of 97 ± 1%, 95 ± 2%, 92 ± 3% and 87 ± 4% at 5, 10, 15 and 20 years, respectively. There were no differences between the 2 conduit models in survival and major postoperative complications.CONCLUSIONSThe CarboSeal™ conduit has shown gratifying overall performance up to 20 years and appears a valid option for a modified Bentall operation, when a mechanical prosthesis is indicated. Both CarboSeal™ conduit models provided not statistically different overall long-term results. 相似文献