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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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Rossi GP Seccia TM Miotto D Zucchetta P Cecchin D Calò L Puato M Motta R Caielli P Vincenzi M Ramondo G Taddei S Ferri C Letizia C Borghi C Morganti A Pessina AC;METRAS Investigators 《Journal of human hypertension》2012,26(8):507-516
It is unclear whether revascularization of renal artery stenosis (RAS) by means of percutaneous renal angioplasty and stenting (PTRAS) is advantageous over optimal medical therapy. Hence, we designed a randomized clinical trial based on an optimized patient selection strategy and hard experimental endpoints. Primary objective of this study is to determine whether PTRAS is superior or equivalent to optimal medical treatment for preserving glomerular filtration rate (GFR) in the ischemic kidney as assessed by 99mTcDTPA sequential renal scintiscan. Secondary objectives of this study are to establish whether the two treatments are equivalent in lowering blood pressure, preserving overall renal function and regressing target organ damage, preventing cardiovascular events and improving quality of life. The study is designed as a prospective multicentre randomized, un-blinded two-arm study. Eligible patients will have clinical and angio-CT evidence of RAS. Inclusion criteria is RAS affecting the main renal artery or its major branches either >70% or, if <70, with post-stenotic dilatation. Renal function will be assessed with 99mTc-DTPA renal scintigraphy. Patients will be randomized to either arms considering both resistance index value in the ischemic kidney and the presence of unilateral/bilateral stenosis. Primary experimental endpoint will be the GFR of the ischemic kidney, assessed as quantitative variable by 99TcDTPA, and the loss of ischemic kidney defined as a categorical variable. 相似文献
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Diamanti Luca Borrelli Paola Dubbioso Raffaele Capasso Margherita Morelli Claudia Lunetta Christian Petrucci Antonio Mora Gabriele Volanti Paolo Inghilleri Maurizio Tremolizzo Lucio Mandrioli Jessica Mazzini Letizia Vedovello Marcella Siciliano Gabriele Filosto Massimiliano Mat Sabrina Montomoli Cristina 《Neurological sciences》2022,43(5):3195-3200
Neurological Sciences - Dysphagia is a common symptom during the trajectory of ALS, and it can significantly impact on the quality of life and prognosis of patients. Nowadays, no specific tool for... 相似文献
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Dunckley T Huentelman MJ Craig DW Pearson JV Szelinger S Joshipura K Halperin RF Stamper C Jensen KR Letizia D Hesterlee SE Pestronk A Levine T Bertorini T Graves MC Mozaffar T Jackson CE Bosch P McVey A Dick A Barohn R Lomen-Hoerth C Rosenfeld J O'connor DT Zhang K Crook R Ryberg H Hutton M Katz J Simpson EP Mitsumoto H Bowser R Miller RG Appel SH Stephan DA 《The New England journal of medicine》2007,357(8):775-788
48.
AIMS: Centrally located prostatic ductal adenocarcinoma can present as a single urethral polyp mimicking a benign polyp. Such lesions have not been formally studied. METHODS AND RESULTS: Clinicopathological and immunohistochemical findings of eight cases were analysed. Patients (mean age 76 years) presented with urinary symptoms and haematuria. Mean serum prostate specific antigen (PSA) was 7.01 ng/mL (range 1.04-21). Single small polyps were seen on cystourethroscopy with a clinical diagnosis of benign polyps. The most common architectural patterns were cribriform and papillary. Five cases had mild cytological atypia, three of which were initially diagnosed as benign prostatic urethral polyps. All cases were positive for PSA and 34betaE12. Seven cases tested were positive for AMACR (a-methylacyl-CoA racemase), p63 and cytokeratin (CK) 7 and 70% for CK20. Proliferative activity defined as Ki-67 labelling index was high (mean 26%, range 20-35%). Adenocarcinoma, predominantly ductal, was found in other specimens in four patients. CONCLUSIONS: Centrally located prostatic ductal adenocarcinoma has the propensity to mimic benign urethral polyps clinically and histopathologically. Basal cell immunostaining may not help with this distinction but AMACR is useful. Prominent glandular complexity including cribriform patterns, nuclear pseudostratification, at least mild atypia and a high Ki-67 index distinguish these lesions from prostatic urethral polyps. 相似文献
49.
Francesco Procaccio Lucia Masiero Francesca Vespasiano Paolo A. Grossi Carlo Gagliotti Annalisa Pantosti Mario Caprio Letizia Lombardini Alessandro Nanni Costa 《American journal of transplantation》2020,20(1):262-273
The 759 cases of brain death declaration (BDD [Italian law, 6 hours of observation time]) that occurred in 190 Italian intensive care units (ICUs) between May and September 2012 were studied to quantify carbapenem‐resistant gram‐negative bacteria (CR‐GN) isolated in organ donors, to evaluate adherence to national screening guidelines, and to identify risk factors for CR‐GN isolation. Mandatory blood, bronchoalveolar lavage, and urine cultures were performed on the BDD day in 99% of used donors. Because results were rarely made available before transplant, >20% of transplants were performed before obtaining any microbiological information, and organs from 15 of 22 CR‐GN cases were used. Two (lung–liver) of the 37 recipients died, likely because of donor‐derived early CR‐GN sepsis. ICU stay >3 days (odds ratio [OR] = 7.49, P = .004), fever (OR = 3.11, P = .04), age <60 years (OR = 2.80, P = .06), and positive ICU epidemiology (OR = 8.77, P = .07) were associated with CR‐GN isolation. An association between single ICU and risk of CR‐GN was observed, as a result of differences across ICUs (ICC = 29%; 95% confidence interval [CI] 6.5%‐72%) probably related to inadequate practices of infection control. Continuous education aimed at implementing priority actions, including stewardship programs for a rational use of antimicrobials, is a priority in healthcare systems and transplant networks. Improved awareness among ICU personnel regarding the importance of early CR‐GN detection and timely alert systems might facilitate decisions regarding organ suitability and eventually save recipient lives. 相似文献