Pracella D.,Cattinara Hospital |
Bonin S.,Cattinara Hospital |
Barbazza R.,Cattinara Hospital |
Sapino A.,University of Turin |
And 3 more authors.
Disease Markers | Year: 2013
In this study we investigate the clinical outcomes of 305 breast cancer (BC) patients, aged 55 years or younger, with long follow-up and according to intrinsic subtypes. The cohort included 151 lymph node negative (LN-) and 154 lymph node positive (LN+) patients. Luminal A tumors were mainly LN-, well differentiated, and of stage I; among them AR was an indicator of good prognosis. Luminal B and HER2 positive nonluminal cancers showed higher tumor grade and nodal metastases as well as higher proliferation status and stage. Among luminal tumors, those PR positive and vimentin negative showed a longer survival. HER2-positive nonluminal and TN patients showed a poorer outcome, with BC-specific death mostly occurring within 5 and 10 years. Only luminal tumor patients underwent BC death over 10 years. When patients were divided in to LN- and LN+ no differences in survival were observed in the luminal subgroups. LN- patients have good survival even after 20 years of follow-up (about 75%), while for LN+ patients survival at 20 years (around 40%) was comparable to HER2-positive nonluminal and TN groups. In conclusion, in our experience ER-positive breast tumors are better divided by classical clinical stage than molecular classification, and they need longer clinical follow-up especially in cases with lymph node involvement. © 2013 Danae Pracella et al.
Elli F.M.,University of Milan |
De Sanctis L.,University of Turin |
Peverelli E.,University of Milan |
Bordogna P.,University of Milan |
And 5 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2014
Context: Pseudohypoparathyroidism type Ib (PHP-Ib) is a rare imprinting disorder characterized by end-organ resistance to PTH and, frequently, to thyroid-stimulating hormone. PHP-Ib familial form, with an autosomal dominant pattern of transmission (autosomal dominant pseudohypoparathyroidism type Ib [AD-PHP-Ib]), is typically characterized by an isolated loss of methylation at the guanine nucleotide-binding protein α-stimulating activity polypeptide 1 A/B differentially methylated region (DMR), secondary to genetic deletions disrupting the upstream imprinting control region in the syntaxin-16 (STX16) locus. However, deletions described up to now failed to account some cases of patients with a methylation defect limited to the A/B DMR; thus, it is expected the existence of other still unknown rearrangements, undetectable with conventional molecular diagnostic methods. Objective:Weinvestigated a PHP-Ib patient with a methylation defect limited to the A/B DMR and no known STX16 deletions to find the underlying primary genetic defect. Patient and Methods: A PHP-Ib patient (hypocalcaemia, hyperphosphataemia, raised serum PTH levels, no vitamin D deficiency) and his unaffected relatives were investigated by methylation specific- multiplex ligand-dependent probe amplification to search for novel pathogenetic defects affecting the guanine nucleotide-binding protein α-stimulating activity polypeptide 1 and STX16 loci. Results: We report the clinical, biochemical, and molecular analysis of an AD-PHP-Ib patient with a novel STX16 deletion overlapping with previously identified STX16 deletions but that, unlike these genetic defects associated with AD-PHP-Ib, goes unnoticed with commonly used first-level diagnostic techniques. Conclusions: Our work highlights the importance of performing accurate investigations in PHP-Ib patients with methylation defects to allow precise genetic counseling because, in case of deletions, the segregation ratio is about 50% and the disease phenotype is transmitted in an autosomal dominant fashion via the mother. Copyright © 2014 by the Endocrine Society.
Rossetti A.,University of Padua |
Doro D.,University of Padua |
Manfre A.,Santa Maria degli Angeli Hospital |
Midena E.,University of Padua
Eye | Year: 2010
Purpose: To report the long-term sequential morphological and functional results in eyes with metamorphopsia after retinal detachment (RD) repair. Patients and methods: In six eyes of six patients aged 58.7 ± 11.0 years with metamorphopsia after successful buckling surgery for macula-off RD, best-corrected visual acuity (BCVA), fundus biomicroscopy, Amsler grid test, time-domain optical coherence tomography (TD-OCT) and central 12° microperimetry (MP-1) were performed at months 1, 3, 6, 12, and 18. At 5 to 6 years after surgery all patients underwent also spectral domain (SD)-OCT. Results: Three eyes slowly recovered pre-RD BCVA. In the remaining three eyes - with good final BCVA - the interrupted junction line between photoreceptor cell inner and outer segments (IS/OS) was progressively less evident after RD surgery; and the external limiting membrane was preserved on SD-OCT examination. In all eyes post-operative metamorphopsia faded with time, but fully disappeared in 6 years only in two eyes without photoreceptor abnormalities. One of the two eyes with subretinal fluid up to 6 months and IS/OS disruption had central dense scotoma with relatively unstable fixation on MP-1 and persistent metamorphopsia. Macular sensitivity (MS) increased from 9.7 ± 7.1 at month 1 to 13.5 ± 5.6 dB at the final check, and was weakly (r = 0.33) correlated with post-operative BCVA and OCT abnormalities. Conclusion: Long-standing metamorphopsia can occur after successful macula-off RD repair even without detectable photoreceptor disruption on OCT. Post-operative BCVA recovery weakly correlates with increasing MS, and late restoration of the photoreceptor layer may be observed © 2010 Macmillan Publishers Limited All rights reserved.
Malvestio A.,University of Trieste |
Bovenzi M.,University of Trieste |
Hoteit M.,University of Trieste |
Belloni Fortina A.,University of Padua |
And 3 more authors.
Contact Dermatitis | Year: 2011
Summary Background. p-Phenylenediamine (PPD) is an extreme delayed-type skin sensitizer, and is relevant in both occupational and non-occupational exposures. Objectives. To estimate the prevalence of PPD sensitization in a population of consecutive patients with suspected allergic contact dermatitis who attended units of dermatology or occupational medicine in north-eastern Italy and to investigate the association between their PPD sensitization and occupation. Patients/Materials/Methods. A total of 14 464 patients (67.6% women and 32.4% men) with suspected allergic dermatitis underwent patch testing. The associations between patch test results and occupations were studied by multivariate logistic regression analysis. Results. In both sexes, PPD sensitization was significantly associated with hairdressing and beauty occupation [women, odds ratio (OR) 6.58, 95% confidence interval (CI) 3.76-11.50; men, OR 22.3, 95% CI 4.18-119]. In the female group, PPD sensitization was also significantly higher in professional drivers (OR 5.31, 95% CI 1.76-16.1), barmaids (OR 1.89, 95% CI 1.04-3.44), and cleaners (OR 1.82, 95% CI 1.24-2.68). In the male group, PPD sensitization was significantly higher in bakers and waiters (OR 13.0, 95% CI 1.38-123), household workers (OR 8.46, 95% CI 1.68-42.8), and printers (OR 5.68, 95% CI 1.50-21.5). Conclusions. Our study showed that workers in several occupations may be at higher risk of developing sensitization to PPD. It is of importance to reduce possible exposure to PPD-crossreacting substances in these occupations. © 2010 John Wiley & Sons A/S.
Faoro V.,University of Trieste |
Barbazza R.,University of Trieste |
Bonin S.,University of Trieste |
Brunetti D.,University of Trieste |
And 2 more authors.
Applied Immunohistochemistry and Molecular Morphology | Year: 2013
The availability of a new E7 mAb-based immunohistochemistry (IHC) detection assay, Cervimax, allowed for the first time reliable testing of the E7 protein marker in formalin-fixed and paraffin-embedded tissues from cervical lesions. E7-specific IHC staining patterns were compared with those patterns of cervical cancer biomarkers, including the viral capsid protein L1 and the surrogate biomarkers p16INK4A, p53, hTERT, ubiquitin, and Ki67. The use of a tissue microarray of 138 cervical tissue cores from different pathologic stages allowed for a first profiling of the various markers in comparison with E7. Cervimax staining patterns closely overlap with those from p16INK4A and human telomerase reverse transcriptase (hTERT) in IHC staining for high-grade cervical intraepithelial neoplasia and squamous cell carcinoma. In squamous cell carcinoma, E7 immunostaining matched better to hTERT and ubiquitin profiles. On the contrary, the pattern of E7 and L1 were different in all the squamous lesions. The nuclear staining of E7 significantly discriminates between low-grade cervical intraepithelial neoplasia and high-grade cervical intraepithelial neoplasia in the basal, parabasal, and superficial layers. The results obtained in the presented pilot study suggest E7 as a valid candidate biomarker for all the stages of the malignant progression of cervical cancer; however, more extensive studies are needed to confirm the causal effect of the oncoprotein E7 in the diagnosis of human papillomavirus-induced diseases. These results also suggest that the diagnostic interpretation of cervical lesions could be increased by the combination of E7 and L1 staining in the evaluation of risk of progression, because related to different phases of viral integration. Copyright © 2012 by Lippincott Williams & Wilkins.
Pegolo E.,University of Udine |
Machin P.,University of Udine |
Riosa F.,University of Udine |
Bassini A.,Santa Maria degli Angeli Hospital |
And 2 more authors.
Cancer Cytopathology | Year: 2012
BACKGROUND: Fine-needle aspiration cytology (FNAC) is a well-accepted procedure for the diagnosis and biological characterization of breast carcinoma. Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2) status have a strong prognostic and predictive value in invasive breast carcinoma (IBC). Thin- Prep (TP) cytology, which uses an alcohol-based fixative, is increasingly being used for immunocytochemistry. In this study, the authors compared the immunocytochemical evaluation of hormone receptors (HR) and HER2 on TP-processed FNAC with the immunohistochemical analysis performed on the corresponding formalin-fixed paraffin-embedded (FFPE) breast tumor specimens, which are considered the gold standard. METHODS: FNACs were performed on 116 primary IBCs at the time of diagnosis and subjected to immunocytochemical evaluation of HR and HER2 using the TP method. The same markers were immunohistochemical evaluated on the corresponding FFPE tissue specimens. HER2 fluorescent in situ hybridization analysis was performed only on the equivocal immunohistochemical results. RESULTS: The HR results of the TP cytology specimens showed a very good agreement with those of the corresponding FFPE tissue samples (Cohen kappa test = 0.92; concordance rate = 98%) for estrogen receptor, and a good agreement (kappa = 0.76; concordance rate = 90.9%) for progesterone receptor. A perfect agreement (kappa = 1) was observed between TP and FFPE tissue samples in evaluating HER2 status. CONCLUSIONS: Alcohol-based fixation seems not to affect the immunocytochemical evaluation of HR and HER2. Considering the high levels of agreement between the evaluation of HR and HER2, on both cytology specimens and on the corresponding FFPE tissue samples, the authors concluded that the TP technique can be routinely used for the biological characterization of IBC. © 2011 American Cancer Society.
Buttussi F.,University of Udine |
Pellis T.,Santa Maria degli Angeli Hospital |
Cabas Vidani A.,University of Udine |
Pausler D.,Santa Maria della Misericordia Hospital |
And 2 more authors.
International Journal of Medical Informatics | Year: 2013
Objective: Advanced life support (ALS) knowledge and skills decrease in as little as three months, but only a few ALS providers actually attend retraining courses. We assess the effectiveness of a 3D serious game as a new tool for frequent ALS retraining. Methods: We developed a 3D serious game for scenario-based ALS retraining. The serious game, called EMSAVE, was designed to promote self-correction while playing. We organized a retraining course in which 40 ALS providers played two cardiac arrest scenarios with EMSAVE and took a test with 38 multiple-choice questions before and after playing. We administered the same test again 3 months later to evaluate retention. Participants also rated EMSAVE and the overall retraining experience. Results: After using EMSAVE, the number of correct answers per participant increased by 4.8 (95%CI +3.4, +6.2, p<. 0.001) and all but one participant improved. After 3 months, despite an expected decrease in ALS knowledge and skills (-1.9 correct answers, 95%CI -0.6, -3.3, p<. 0.01), there was a significant retention benefit (+2.9 correct answers per participant, 95%CI +1.5, +4.2, p<. 0.001). Moreover, all but one participant regarded EMSAVE as a valuable tool to refresh ALS knowledge and skills, and 85% of participants were also willing to devote 1. h/month to retrain with the serious game. Conclusions: A 3D serious game for scenario-based retraining proved effective to retrain in ALS and supported retention of acquired knowledge and skills at 3 months. EMSAVE also positively engaged and motivated participants. © 2013 Elsevier Ireland Ltd.
Pellis T.,Santa Maria degli Angeli Hospital |
Kohl P.,University of Oxford
British Medical Bulletin | Year: 2010
Introduction: External cardiac mechanical stimulation is one of the fastest resuscitative manoeuvres possible in the emergency setting. Precordial thump (PT), initially reported for treatment of atrio-ventricular block, has been subsequently described to cardiovert also ventricular tachycardia (VT) and fibrillation (VF). PT efficacy, mechanics and mechanisms remain poorly characterized. Sources of data: Appropriate MESH and free terms were searched on PubMed, Embase and the Cochrane Library. Cross-referencing from articles and reviews, and forward search using SCOPUS and Google scholar have also been performed. Pre-set inclusion and exclusion criteria were applied to retrieved references on PT, which were then reviewed, summarized and interpreted. Areas of agreement: PT is not effective in treating VF, and of limited use for VT, although it has a very good safety profile (97% no changed/improved rhythm). If delivered, PT should be applied as early as possible after cardiac arrest, and cardio-pulmonary resuscitation (CPR) should begin with no delay if not effective. Areas of controversy: A relatively large fraction of reported positive outcomes (both for PT and the less forceful but serially applied precordial percussion) in witnessed asystole should be considered when critically reviewing present CPR recommendations. In addition, mechanisms, energy requirements and timing are analysed and discussed. Growing points and areas timely for developing research: The 2005 ALS guidelines recommend PT delivery only by healthcare professionals trained in the technique. The use of training aids should therefore be explored, regardless of whether they are based on stand-alone devices or integrated within resuscitation mannequins. © The Author 2009. Published by Oxford University Press. All rights reserved.
Ong M.E.H.,Singapore General Hospital |
Pellis T.,Santa Maria degli Angeli Hospital |
Link M.S.,Cardiac Arrhythmia Center
Resuscitation | Year: 2011
Aims: In adult cardiac arrest, antiarrhythmic drugs are frequently utilized in acute management and legions of medical providers have memorized the dosage and timing of administration. However, data supporting their use is limited and is the focus of this comprehensive review. Methods: Databases including PubMed, Cochrane Library (including Cochrane database for systematic reviews and Cochrane Central Register of Controlled Trials), Embase, and AHA EndNote Master Library were systematically searched. Further references were gathered from cross-references from articles and reviews as well as forward search using SCOPUS and Google scholar. The inclusion criteria for this review included human studies of adult cardiac arrest and anti-arrhythmic agents, peer-review. Excluded were review articles, case series and case reports. Results: Of 185 articles found, only 25 studies met the inclusion criteria for further review. Of these, 9 were randomised controlled trials. Nearly all trials solely evaluated Ventricular Tachycardia (VT) and Ventricular Fibrillation (VF), and excluded Pulseless Electrical Activity (PEA) and asystole. In VT/VF patients, amiodarone improved survival to hospital admission, but not to hospital discharge when compared to lidocaine in two randomized controlled trials. Conclusion: Amiodarone may be considered for those who have refractory VT/VF, defined as VT/VF not terminated by defibrillation, or VT/VF recurrence in out of hospital cardiac arrest or in-hospital cardiac arrest. There is inadequate evidence to support or refute the use of lidocaine and other antiarrythmic agents in the same settings. © 2011 Elsevier Ireland Ltd.
Leykin Y.,Santa Maria Degli Angeli Hospital |
Miotto L.,Santa Maria Degli Angeli Hospital |
Pellis T.,Santa Maria Degli Angeli Hospital
Best Practice and Research: Clinical Anaesthesiology | Year: 2011
The steady rise in obesity observed in the recent years, coupled with its associated co-morbidities, suggests that clinicians will encounter obese patients with increasing frequency in their daily practice. Unfortunately, obese subjects are often excluded from clinical trials during the drug development process. Hence, the appropriate dose for obese patients is most often inferred from normal-weight subjects. Pharmacokinetic and pharmacodynamic variations induced by obesity are numerous and with profound clinical implications, particularly in anaesthesia and intensive care. This review provides a pragmatic approach to the pharmacokinetic considerations that should guide drug administration. We hereby offer a systematic approach to dosing scalars, followed by an analysis of the factors affecting pharmacokinetics in obesity, and provide a detailed discussion on the single most commonly used pharmacological agents in anaesthesia. © 2011 Elsevier Ltd. All rights reserved.