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排序方式: 共有358条查询结果,搜索用时 15 毫秒
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Antonella Gambale Roberta Russo Immacolata Andolfo Lucia Quaglietta Gianluca De Rosa Valentina Contestabile Lucia De Martino Rita Genesio Piero Pignataro Sabrina Giglio Mario Capasso Rosanna Parasole Barbara Pasini Achille Iolascon 《Clinical genetics》2019,96(4):359-365
Cancer predisposition syndromes (CPS) result from germline pathogenic variants, and they are increasingly recognized in the etiology of many pediatric cancers. Herein, we report the genetic/genomic analysis of 40 pediatric patients enrolled from 2016 to 2018. Our diagnostic workflow was successful in 50% of screened cases. Overall, the proportion of CPS in our case series is 10.9% (20/184) of enrolled patients. Interestingly, 12.5% of patients achieved a conclusive diagnosis through the analysis of chromosomal imbalance. Indeed, we observed germline microdeletions/duplications of regions encompassing cancer-related genes in 50% of patients undergoing array-CGH: EIF3H duplication in a patient with infantile desmoplastic astrocytoma and low-grade Glioma; SLFN11 deletion, SOX4 duplication, and PARK2 partial deletion in three neuroblastoma patients; a PTPRD partial deletion in a child diagnosed with glioblastoma multiforme. Finally, we identified two cases due to DICER1 germline mutations. 相似文献
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Lorenzo Drago Laura Cappelletti Elena De Vecchi Lorenzo Pignataro Sara Torretta Roberto Mattina 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2014,122(10):1013-1019
To address the problem of limited efficacy of existing antibiotics in the treatment of bacterial biofilm, it is necessary to find alternative remedies. One candidate could be hyaluronic acid; this study therefore aimed to evaluate the in vitro antiadhesive and antibiofilm activity of hyaluronic acid toward bacterial species commonly isolated from respiratory infections. Interference exerted on bacterial adhesion was evaluated by using Hep‐2 cells, while the antibiofilm activity was assessed by means of spectrophotometry after incubation of biofilm with hyaluronic acid and staining with crystal violet. Our data suggest that hyaluronic acid is able to interfere with bacterial adhesion to a cellular substrate in a concentration‐dependent manner, being notably active when assessed as pure substance. Moreover, we found that Staphylococcus aureus biofilm was more sensitive to the action of hyaluronic acid than biofilm produced by Haemophilus influenzae and Moraxella catarrhalis. In conclusion, hyaluronic acid is characterized by notable antiadhesive properties, while it shows a moderate activity against bacterial biofilm. As bacterial adhesion to oral cells is the first step for colonization, these results further sustain the role of hyaluronic acid in prevention of respiratory infections. 相似文献
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Bonomo Giulio Bertani Giulio A. Carrabba Giorgio G. Ferrante Emanuele Pluderi Mauro Guastella Claudio Pignataro Lorenzo Rampini Paolo Mantovani Giovanna Locatelli Marco 《Pituitary》2020,23(5):552-557
Pituitary - The aim of the present study is to assess the predictive value of the suprasellar volume (SSV) of nonfunctioning pituitary adenomas (NFPAs) for visual field (VF) impairment in order to... 相似文献
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Tom Kovitwanichkanont Sudha Raghunath Dorothy Wang Leo Kyi Silvana Pignataro Susan Morton Eric Morand Michelle Leech 《Internal medicine journal》2020,50(3):374-377
Biosimilars are increasingly adopted to improve affordability of biologics. An effective introduction of biosimilars requires an understanding of patient acceptance of these agents. We performed a cross‐sectional study of 132 patients with rheumatoid arthritis prior to the introduction of biosimilar switching or prescribing in this cohort. Despite being unfamiliar with biosimilars, most patients are willing to accept biosimilar medicines if recommended by their rheumatologist. Patient concerns about biosimilar uptake mainly focus on concerns about its efficacy. There is a significant correlation between patient attitudes towards biosimilar and generic medicines. 相似文献
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Franco Casazza Amedeo Bongarzoni Chiara Forgione Claudio Cuccia Ferdinando Imperadore Girolamo Arrigo Irene Floriani Luigi Pignataro 《Thrombosis research》2014
Aims
The aim of the study is to describe the course of the echocardiographically measured pulmonary artery systolic pressure (PAsP) in a series of patients included in the Italian Pulmonary Embolism Registry (IPER).Methods
Patients with confirmed PE received an echo-Doppler evaluation within 24 hours from hospital admission and after one year. Pulmonary hypertension (PH) was considered “likely” , “possible” or “unlikely” with a right ventricular-right atrial (RV-RA) pressure gradient > 45 mm Hg, between 32 and 45 mm Hg and ≤ 31 mm Hg and no additional echocardiographic variables suggestive of PH, respectively.Results
We studied 286 patients (169 females and 117 males, mean age 67 ± 15; mean follow-up 387 ± 45 days): 240 had a baseline tricuspid regurgitation (TR) and a RV-RA gradient of variable degree. PH was considered likely, unlikely and possible in 97, 93 and 50 patients respectively. At FU echocardiography, 6 patients (2.1%) had a likely PH and all of them were part of the group of 97 patients with a baseline likely PH; 24 patients (8.4%) had a possible PH, and 67% of them had an initial likely PH. No patients with a baseline unlikely PH or without TR developed a follow-up PH (both likely or possible). The probability to show a likely PH at FU echocardiography for patients with a baseline RV-RA gradient > 45 mm Hg was 6.2%, while the probability not to have a likely PH for patients with a baseline RV-RA gradient ≤ 45 mm Hg was 100%.Conclusion
In our study population of patients with acute PE, we observed that those presenting with a baseline echocardiographic RV-RA pressure gradient ≤ 45 mm Hg were completely free from a likely PH after 1-year. 相似文献9.
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