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Claudio Sorio Chiara Angiari Jan Johansson Genny Verzè Michele Ettorre Mario Buffelli Carlo Castellani Baroukh Maurice Assael Paola Melotti 《Journal of cystic fibrosis》2013,12(6):821-825
BackgroundThe S977F mutation (c.2930C>T) in the CFTR gene (CFTR/ABCC7) is extremely rare. We describe the case of an adult patient carrying the complex allele S977F/T5TG12 in trans with the F508del mutation. Mild respiratory manifestations arose in adulthood associated with azoospermia, acute pancreatitis, minor hemoptysis and Cl? levels ranging from 40 to 42 mEq/L.MethodDiagnosis was confirmed by repeated NPD measurements, genetic DHPLC analysis and a recently described functional assay measuring cAMP-dependent cell depolarization in peripheral blood monocytes.ResultsNPD measurements, DHPLC and monocyte functional assay (CF index = ? 18). Results were consistent with a CF phenotype.ConclusionsThe combined application of DHPLC and NPD analysis in the algorithm for CF diagnosis appears useful for the management of similar cases. In addition, the novel monocyte functional assay might contribute to improve our diagnostic capability, counseling and better treatment of these challenging clinical cases. 相似文献
73.
A. Fregonesi C. Ciari L. Melotti E.L. Zani U. Ferreira L.O. Reis 《Actas urologicas espa?olas》2010,34(5):440-443
ObjectivesWhile radical retropubic prostatectomy carries significant potential for blood loss requiring transfusion, Jehovah's Witnesses do not permit the use of allogeneic blood products. This study presents strategies for transfusion-free radical retropubic prostatectomy for prostate cancer treatment in Jehovah's Witnesses patients.MethodsFrom March 1998 to May 2009, 25 Jehovah's Witnesses patients diagnosed with prostate cancer underwent radical prostatectomy and bilateral iliac and obturatory lymphadenectomy. Preoperative hemoglobin boost utilizing erythropoietin aiming hemoglobin over 14 g/dL, normovolemic hemodilution and availability of cell salvage machine were provided for blood loss management.ResultsThe mean age was 62 (43 to 70) years and the mean hospitalization time was 3.5 (3 to 7) days. Mean intra-operative bleeding was 430 (±120) ml and the mean pre- and post-operative hemoglobin (measured before discharge) was 15.1 (±0.8) and 11.7 (±2.3) g/dL, respectively. There was no need for cell salvage machine or transfusion. The lowest hemoglobin was 5.7 g/dL due to post-operative bladder neck bleeding, which responded to twenty days of office based erythropoietin subcutaneously on alternate days reaching 12 g/dL hemoglobin. There was no complication related to non-transfusion.ConclusionsThe proposed techniques were essential for maximum reduction of the need for transfusions without increasing complications. Further studies are needed to introduce these methods in all cases of radical retropubic prostatectomy regarding the benefits in lowering costs and risks related to transfusion. 相似文献
74.
F. Pietrantonio P. Biondani M. Milione F. Melotti G. Bertarelli F. Perrone F. de Braud L. Mariani G. Fanetti D. Cortinovis M. Di Bartolomeo 《Clinical & translational oncology》2013,15(7):582-586
Background
Currently, first-line chemotherapy in advanced colorectal cancer is not tailored on predictive biomarkers. Bax proapoptotic protein may correlate to chemosensitivity and differential response to irinotecan or oxaliplatin-based combinations.Methods
Bax expression was assessed by immunohistochemistry in 49 advanced colorectal cancer patients enrolled at our institution from 2002 to 2004 within a multicenter, phase II, randomized trial of first-line UFT/leucovorin/irinotecan (TEGAFIRI) versus UFT/leucovorin/oxaliplatin (TEGAFOX).Results
Bax-positive and negative samples were 49 and 51 %. Response was significantly lower in Bax positive (25 %) as compared to Bax negative (56 %) (Odds ratio = 0.26; p = 0.03). No significant difference was noted in TEGAFOX subgroup; in TEGAFIRI arm, responses were lower in Bax positive (18 %) than Bax negative (67 %) (Odds ratio = 0.11; p = 0.03). No difference in terms of progression-free and overall survival was observed according to Bax.Conclusion
Bax-negative colorectal cancer may identify a specific phenotype of patients with significantly higher chance to respond to doublet irinotecan-based chemotherapy. 相似文献75.
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77.
Ramacciato G Nigri GR Petrucciani N Di Santo V Piccoli M Buniva P Valabrega S D'Angelo F Aurello P Mercantini P Del Gaudio M Melotti G 《The American surgeon》2011,77(4):409-416
Minimally invasive adrenalectomy (MIA) is both feasible and safe with either transperitoneal or retroperitoneal entry. However, only a few studies have rigorously compared these two techniques. The aim of the current study is to compare transperitoneal and retroperitoneal adrenalectomy to detect significant differences in patient selection and perioperative outcomes. Between 1995 and 2009, 171 patients underwent MIA through transperitoneal (n = 127) or retroperitoneal access (n = 44). The respective cohorts were then examined retrospectively through matched and unmatched comparisons. Multivariate analyses of intraoperative blood loss, postoperative morbidity, and length of hospital stay were performed. Surgical indications were benign lesions (70.2%), malignant tumors (11.1%), and pheochromocytomas (18.7%). The postoperative morbidity rate was 15.8 per cent, but mortality was null. The rate of conversion to open surgery was 5.3 per cent. Blood loss and operative time were significantly lower with the transperitoneal approach, whereas time to oral intake was shorter for the retroperitoneal group. Tumor size less than 4.5 cm was associated with less blood loss, shorter hospital stay, and lower postoperative morbidity. Laparoscopic and retroperitoneal routes are both effective and safe for excising adrenal lesions. In the present study, however, laparoscopic adrenalectomy demonstrated shorter operative times with less blood loss. Regardless of this, we remain cautious in recommending one procedure preferentially. Other important measures of clinical outcome such as required pain control, ease of patient recovery, and cost considerations were not included in this analysis. Further randomized trials, with large patient numbers, are therefore desirable for defining an optimal surgical method. 相似文献
78.
Samolsky Dekel BG Melotti RM Carosi F Spinelli FD D'Andrea R Di Nino G 《Transplantation proceedings》2008,40(4):1218-1220
Suitable postoperative pain control (POPC) requires both the application of appropriate pain therapy and the continuous supervision of its therapeutic effects. In our hospital, POPC was, until recently, limited to the first 48 postoperative hours. The purpose of this retrospective study was to assess, the evolution of POPC at the end of the first postoperative 48 hours among major abdominal surgery patients using the Acute Pain Service (APS) database. Further we sought to establish the indications to extend POPC to the entire postoperative period. Regardless of the type of protocol applied after surgery, 79.6% of cases showed pain control was still needed after the 48(th) hour. In about half of the cases, POPC was perpetuated with only the drug category or by dosage modifications, while in roughly one third of the cases we adopted both drug and administration route changes. These changes were made by the APS after a thorough evaluation of the patients' conditions and needs in terms of analgesia. Interestingly, in approximately 5% of cases the surgeon decided to interrupt pain therapy. When applying evidence-based guideline protocols, organizational issues are important as well as a better definition of the APS role in POPC, at least from the timing point of view. 相似文献
79.
Laparoscopic distal pancreatectomy: results on a consecutive series of 58 patients 总被引:9,自引:0,他引:9 下载免费PDF全文
Melotti G Butturini G Piccoli M Casetti L Bassi C Mullineris B Lazzaretti MG Pederzoli P 《Annals of surgery》2007,246(1):77-82
OBJECTIVE: To describe the clinical characteristics, indications, technical procedures, and outcome of a consecutive series of laparoscopic distal pancreatic resections performed by the same surgical team. SUMMARY BACKGROUND DATA: Laparoscopic distal pancreatic resection has increasingly been described as a feasible and safe procedure, although accompanied by a high rate of conversion and morbidity. METHODS: A consecutive series of patients affected by solid and cystic tumors were selected prospectively to undergo laparoscopic distal pancreatectomy performed by the same surgical team. Clinical characteristics as well as diagnostic preoperative assessment and intra- and postoperative data were prospectively recorded. A follow-up of at least 3 months was available for all patients. RESULTS: Fifty-eight patients underwent laparoscopic resection between May 1999 and November 2005. All procedures were successfully performed laparoscopically, and no patient required intraoperative blood transfusion. Splenic vessel preservation was possible in 84.4% of spleen-preserving procedures. There were no mortalities. The overall median hospital stay was 9 days, while it was 10.5 days for patients with postoperative pancreatic fistulae (27.5% of all cases). Follow-up was available for all patients. CONCLUSIONS: Our experience in 58 consecutive patients was characterized by the lack of conversions and by acceptable rates of postoperative pancreatic fistulae and morbidity. Laparoscopy proved especially beneficial in patients with postoperative complications as they had a relatively short hospital stay. Solid and cystic tumors of the distal pancreas represent a good indication for laparoscopic resection whenever possible. 相似文献
80.