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Corrias A Grugni G Crinò A Di Candia S Chiabotto P Cogliardi A Chiumello G De Medici C Spera S Gargantini L Iughetti L Luce A Mariani B Ragusa L Salvatoni A Andrulli S Mussa A Beccaria L;Study Group for Genetic Obesity of Italian Society of Pediatric Endocrinology Diabetology 《Clinical endocrinology》2012,76(6):843-850
Objective A recent study evidenced by metyrapone test a central adrenal insufficiency (CAI) in 60% of Prader–Willi syndrome (PWS) children. These results were not confirmed in investigations with low [Low‐Dose Tetracosactrin Stimulation Test (LDTST), 1 μg] or standard‐dose tetracosactrin stimulation tests. We extended the research by LDTST in paediatric patients with PWS. Design Cross‐sectional evaluation of adrenal stress response to LDTST in a PWS cohort of a tertiary care referral centre. Patients Eighty‐four children with PWS. Measurements Assessment of adrenal response by morning cortisol and ACTH dosage, and 1‐μg tetracosactrin test. Response was considered appropriate when cortisol reached 500 nm ; below this threshold, patients were submitted to a second test. Responses were correlated with the patients’ clinical and molecular characteristics to assess genotype–phenotype correlation. Results Pathological cortisol peak responses to the LDTST were registered in 12 patients (14·3%) who had reduced basal (169·4 ± 83·3 nm ) and stimulated (428·1 ± 69·6 nm ) cortisol levels compared to patients with normal responses (367·1 ± 170·6 and 775·9 ± 191·3 nm , P < 0·001). Body mass index standard deviation score was negatively correlated with basal and peak cortisol levels (both P < 0·001), and the patients’ ages (P < 0·001). In patients with deletion on chromosome 15, the cortisol peak was significantly lower than that in uniparental disomy (UPD) cases (P = 0·030). At multiple regression analysis, the predictors of peak response were basal cortisol, age, and UPD subclass (r2 = 0·353, P < 0·001). Standard‐dose (250 μg) tetracosactrin test confirmed CAI in 4/12 patients (4·8% of the cohort). Conclusions Our results support the hypothesis that, albeit rare, CAI may be part of the PWS in childhood. 相似文献
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M. Rittà C. Costa F. Sinesi F. Sidoti A. Di Nauta S. Mantovani A. Piceghello S. Simeone D. Ricci M. Boffini P. Solidoro S. Baldi G.P. Segoloni R. Cavallo 《Transplantation proceedings》2013
Epstein-Barr virus (EBV) is a γ-herpes virus, responsible for infectious mononucleosis in immunocompetent hosts. Cellular immunity appears rapidly during EBV primary infection, keeping it silent despite long-life persistence in B lymphocytes. Defects of the EBV-specific cellular immunity are supposed to be the basis of post-transplantation lymphoproliferative disorders, promoted by high levels of immunosuppression. We retrospectively reviewed 197 solid organ transplant recipients to investigate EBV-specific lymphocyte responsiveness using Enzyme-linked ImmunoSpot assay (EliSpot), which assesses the EBV-specific interferon (IFN)-γ producing peripheral blood mononuclear cells, and kinetics of EBV infection/reactivation post-transplantation using quantitative real-time polymerase chain reaction (PCR) on whole blood. Overall, 102 of the 197 patients (51.8%) showed EBV responsiveness at the EBV-EliSpot assay: 68 (66.6%) showed a persistently positive EBV response in 3 or more determinations and 34 (33.3%) had transient episodes of nonresponsiveness. Ninety-five (48.2%) patients were persistently EBV nonresponders. EBV-DNAemia data were available for 58 patients: 27.6% presented at least one episode of EBV-DNA occurrence. No differences were found in EBV-EliSpot response stratification between the groups of patients who experienced episodes of EBV reactivation and those without EBV-DNAemia. However, EBV DNAemia peak values tended to be higher in the first year post-transplantation in the group of patients with a persistent positive EBV-specific immune response. EBV viral load quantitation in blood and EliSpot EBV-specific immune response determination may represent a powerful tool for monitoring solid organ transplant recipients, guiding immunosuppression modulation in patients with active EBV replication. 相似文献
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Daniela Damiani Mario Tiribelli Antonella Geromin Michela Cerno Alessandra Sperotto Eleonora Toffoletti Erica Simeone Angela Michelutti Margherita Cavallin Renato Fanin 《Annals of hematology》2012,91(12):1937-1943
We retrospectively analysed 78 patients with relapsed (n?=?38), primary refractory (n?=?34) or untreated (n?=?6) acute myeloid leukaemia (AML) who underwent allogeneic HSCT at our Institution between 2002 and 2011, to verify outcome and to identify factors that can affect long-term outcome. Myeloablative conditioning regimens were used in 48 patients (24 siblings, 24 matched unrelated donor (MUD)), while 30 patients (18 siblings, 12 MUD) received reduced-intensity conditioning. Acute graft versus host disease (GVHD) developed in 37 (47?%) patients, while chronic GVHD occurred in 19 of the 65 evaluable patients (29?%). With a median follow-up time of 5?years, 13 of 78 patients (17?%) are alive and in complete remission (CR), while 64 have died. Cause of death was disease recurrence in 37 patients (58?%), infection in ten patients (16?%) and GVHD in six (9?%). One-year non-relapse mortality was 35?%. In multivariate analysis, performance status ≥80?% WHO and a full-matched donor were associated with a better outcome: these two variables allowed for risk stratification, identifying three groups with significantly different survival after transplant (P?=?0.0001). Considering post-transplant variables, only CR at recovery and development of cGVHD were correlated with a longer survival. Our data confirm the capacity of allogeneic transplant to prolong survival in a significant proportion of extremely high-risk AML patients. 相似文献
16.
Judy C. Pang Rebecca M. Minter Richard S. Kwon Diane M. Simeone Michael H. Roh 《Journal of gastrointestinal surgery》2013,17(3):501-510
Objective
Endoscopic ultrasound-guided fine-needle aspiration and bile duct brushings are utilized in the cytologic evaluation of solid and cystic pancreaticobiliary tract lesions. We sought to determine the diagnostic accuracy of cytology.Methods
Five hundred seventy-nine pancreatic resections with 727 corresponding cytology specimens were identified from 1997 to 2012. Histologic diagnoses included benign, carcinoma, pancreatic endocrine neoplasm (PEN), nonepithelial neoplasms, cystic neoplasms, and ampullary adenomas. Standard interpretative categories—nondiagnostic, negative, atypical, suspicious, and positive—were utilized for preoperative cytology specimens.Results
For solid masses, the sensitivity and specificity of positive fine-needle aspiration (FNA) cytology for detecting carcinoma were 74 and 100 %, respectively. FNAs performed better than brushings (sensitivity, 40 %; specificity, 98 %) in detecting carcinomas. Similar findings were seen for PENs and nonepithelial neoplasms. For cystic lesions, the sensitivity of FNA for predicting malignancy was lower (24 %) with a specificity of 97 %. Sequentially combining suspicious and atypical categories with the positive category resulted in increases in sensitivity and decreases in specificity for all cases except for cystic lesions.Conclusions
Cytology adds to the assessment of solid masses, but its utility in cystic lesions is less clear. Consideration of a suspicious cytologic interpretation as a positive diagnosis for triaging patients to surgery is supported by our study. 相似文献17.
Filip Bednar James M. Scheiman Barbara J. McKenna Diane M. Simeone 《Journal of gastrointestinal surgery》2013,17(10):1826-1831
Introduction
The pancreas can serve as the destination for metastatic spread of malignancies from multiple organ sites. Breast cancer metastases to the pancreas are part of this spectrum and surgeons evaluate such patients as part of their practice. Uniform clinical guidelines for these cases do not exist and care is primarily driven by the personal experience of the treating surgeon.Discussion
We present two patients with breast cancer metastases to their pancreas and review their workup and clinical management in light of our experience and the existing published literature. We propose that metastatic disease to the pancreas has to remain in the differential diagnosis for any patient with a new pancreatic mass and prior cancer history. Surgical resection is a viable treatment option for patients with isolated metastatic disease to the pancreas if the underlying biology of the metastatic tumor is favorable. 相似文献18.
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Andrea Minervini Gianni Vittori Alessandro Antonelli Antonio Celia Simone Crivellaro Donato Dente Vincenzo Di Santo Bruno Frea Mauro Gacci Alberto Gritti Lorenzo Masieri Alessandro Morlacco Angelo Porreca Bernardo Rocco Paolo Parma Claudio Simeone Stefano Zaramella Marco Carini Sergio Serni 《World journal of urology》2014,32(1):295-295