Azienda Ospedaliera Spedali Civili

Brescia, Italy

Azienda Ospedaliera Spedali Civili

Brescia, Italy

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Mencarelli M.A.,University of Siena | Storey H.,Guys Hospital | Van Geel M.,Maastricht University | Fallerini C.,University of Siena | And 15 more authors.
Journal of Medical Genetics | Year: 2015

Background: Alport syndrome is a clinically heterogeneous, progressive nephropathy caused by mutations in collagen IV genes, namely COL4A3 and COL4A4 on chromosome 2 and COL4A5 on chromosome X. The wide phenotypic variability and the presence of incomplete penetrance suggest that a simple Mendelian model cannot completely explain the genetic control of this disease. Therefore, we explored the possibility that Alport syndrome is under digenic control. Methods: Using massively parallel sequencing, we identified 11 patients who had pathogenic mutations in two collagen IV genes. For each proband, we ascertained the presence of the same mutations in up to 12 members of the extended family for a total of 56 persons studied. Results: Overall, 23 mutations were found. Individuals with two pathogenic mutations in different genes had a mean age of renal function deterioration intermediate with respect to the autosomal-dominant form and the autosomal-recessive one, in line with molecule stoichiometry of the disruption of the type IV collagen triple helix. Conclusions: Segregation analysis indicated three possible digenic segregation models: (i) autosomal inheritance with mutations on different chromosomes, resembling recessive inheritance (five families); (ii) autosomal inheritance with mutations on the same chromosome resembling dominant inheritance (two families) and (iii) unlinked autosomal and X-linked inheritance having a peculiar segregation (four families). This pedigree analysis provides evidence for digenic inheritance of Alport syndrome. Clinical geneticists and nephrologists should be aware of this possibility in order to more accurately assess inheritance probabilities, predict prognosis and identify other family members at risk.


Capanna R.,CTO Ospedale Careggi | Piccioli A.,Azienda Policlinico Umberto I | Di Martino A.,Biomedical University of Rome | Daolio P.A.,Instituto Ortopedico Gaetano Pini | And 7 more authors.
Expert Review of Anticancer Therapy | Year: 2014

The purpose of this article is to outline the current approach to patients affected by metastasis to the long bones and to present a clinical and surgical algorithm available for clinicians and for future research. A modern approach to patients affected by long bone metastasis in fact requires a multidisciplinary contest where oncologists, radiotherapists, surgeons and physical therapists cooperate with a shared vision, in order to provide the best possible integrated treatments available. The authors of this article constitute the Bone Metastasis Study Group of the Italian Orthopaedic Society (SIOT): a national group of orthopedic tumor surgeons who are dedicated to studying the approach, techniques and outcomes of surgery for metastatic tumours of the musculoskeletal system. © 2014 Informa UK, Ltd.


Alberti D.,Azienda Ospedaliera Spedali Civili | Alberti D.,University of Brescia | Boroni G.,Azienda Ospedaliera Spedali Civili | Giannotti G.,Azienda Ospedaliera Spedali Civili | And 4 more authors.
Pediatric Surgery International | Year: 2014

We report a child with post-surgical short bowel state who underwent bowel expansion followed by spiral intestinal lengthening and tailoring (SILT) at 10 months of age. Growth at 1-year follow-up is along the 15–25th centile on 82 % oral calories as normal diet and 18 % as parenteral nutrition, and he is passing 2–3 semisolid motions daily. SILT is a versatile technique for reconstructing dilated bowel towards improved propulsion and absorption, and has a role in the management of the short bowel state. © 2014, Springer-Verlag Berlin Heidelberg.


Tocci G.,IRCCS Neuromed | Rosei E.A.,Azienda Ospedaliera Spedali Civili | Ambrosioni E.,University of Bologna | Borghi C.,University of Bologna | And 10 more authors.
Journal of Hypertension | Year: 2012

Intoduction: Blood pressure (BP) control is poorly achieved in hypertensive patients, worldwide. AIM:: We evaluated clinic BP levels and the rate of BP control in hypertensive patients included in observational studies and clinical surveys published between 2005 and 2011 in Italy. METHODS:: We reviewed the medical literature to identify observational studies and clinical surveys on hypertension between January 2005 and June 2011, which clearly reported information on clinic BP levels, rates of BP control, proportions of treated and untreated patients, who were followed in different clinical settings (mostly in general practice, and also in outpatient clinics and hypertension centres). Results: The overall sample included 158 876 hypertensive patients (94 907 women, mean age 56.6 ± 9.6 years, BMI 27.2 ± 4.2 kg/m, known duration of hypertension 90.2 ± 12.4 months). In the selected studies, average SBP and DBP levels were 145.7±15.9 and 87.5±9.7 mmHg, respectively; BP levels were higher in patients followed in hypertension centres (n= 10724, 6.7%; 146.5±17.3/88.5 ±10.3 mmHg) than in those followed by general practitioners (n = 148 152, 93.3%; 143.5 ± 13.9/84.8± 8.9 mmHg; P < 0.01). More than half of the patients were treated (n = 91 318, 57.5%); among treated hypertensive patients, only 31 727 (37.0%) had controlled BP levels. Conclusion: The present analysis confirmed inadequate control of BP in Italy, independently of the clinical setting. Although some improvement was noted compared with a similar analysis performed between 1995 and 2005, these findings highlight the need for a more effective clinical management of hypertension. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.


PubMed | University of Genoa, University of Bologna, University of Naples Federico II, University of Rome La Sapienza and 4 more.
Type: Journal Article | Journal: Journal of human hypertension | Year: 2015

This analysis is aimed to determine blood pressure (BP) levels and BP control rates in a large population of hypertensive patients in Italy. Data were taken from two large and inclusive cross-sectional surveys, which covered two distinct and subsequent time periods (2000-2005 and 2005-2011, respectively). Observational clinical studies and surveys, which reported average systolic/diastolic clinic BP levels, proportions of treated/untreated and controlled/uncontrolled patients, and prevalence of cardiovascular risk factors in hypertensive patients followed in either outpatient clinics, hypertension centres or general practice, were considered for the analyses. The overall sample included 211591 hypertensive patients (119997 (56.7%) women, age 57.010.0 years, body mass index 26.94.0kgm(-2), BP levels 146.916.7/88.79.6mmHg). BP levels were 148.215.4/87.59.3mmHg in patients followed by general practitioners (n=168313, 79.5%), 148.117.3/90.19.7mmHg in those followed by hypertension centres (n=28180, 13.3%), and 142.417.6/86.69.8mmHg in those followed by outpatient clinics and hospital divisions (n=15098, 7.1%). Among treated hypertensive patients (n=128079; 60.5%), 43008 (33.6%) were reported to have controlled BP levels. Over one decade of observation, we reported that ~60% of hypertensive patients were treated and among these only 33% achieved effective BP control. These findings highlight the need for more effective interventions to improve management of hypertension in Italy.


Federico M.,University of Modena and Reggio Emilia | Luminari S.,University of Modena and Reggio Emilia | Dondi A.,University of Modena and Reggio Emilia | Tucci A.,Azienda Ospedaliera Spedali Civili | And 16 more authors.
Journal of Clinical Oncology | Year: 2013

Purpose Although rituximab (R) is commonly used for patients with advanced follicular lymphoma (FL) requiring treatment, the optimal associated chemotherapy regimen has yet to be clarified. Patients and Methods We conducted an open-label, multicenter, randomized trial among adult patients with previously untreated stages II to IV FL to compare efficacy of eight doses of R associated with eight cycles of cyclophosphamide, vincristine, and prednisone (CVP) or six cycles of cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) or six cycles of fludarabine and mitoxantrone (FM). The principal end point of the study was time to treatment failure (TTF). Results There were 534 patients enrolled onto the study. Overall response rates were 88%, 93%, and 91% for R-CVP, R-CHOP, and R-FM, respectively (P = .247). After a median follow-up of 34 months, 3-year TTFs were 46%, 62%, and 59% for the respective treatment groups (R-CHOP v R-CVP, P = .003; R-FM v R-CVP, P = .006; R-FM v R-CHOP, P = .763). Three-year progression-free survival (PFS) rates were 52%, 68%, and 63% (overall P = .011), respectively, and 3-year overall survival was 95% for the whole series. R-FM resulted in higher rates of grade 3 to 4 neutropenia (64%) compared with R-CVP (28%) and R-CHOP (50%; P = .001). Overall, 23 second malignancies were registered during follow-up: four in R-CVP, five in R-CHOP, and 14 in R-FM. Conclusion In this study, R-CHOP and R-FM were superior to R-CVP in terms of 3-year TTF and PFS. In addition, R-CHOP had a better risk-benefit ratio compared with R-FM. © 2013 by American Society of Clinical Oncology.


Tocci G.,University of Rome La Sapienza | Ferrucci A.,University of Rome La Sapienza | Pontremoli R.,IRCCS Azienda Ospedaliera | Ferri C.,University of L'Aquila | And 6 more authors.
Journal of Human Hypertension | Year: 2015

This analysis is aimed to determine blood pressure (BP) levels and BP control rates in a large population of hypertensive patients in Italy. Data were taken from two large and inclusive cross-sectional surveys, which covered two distinct and subsequent time periods (2000-2005 and 2005-2011, respectively). Observational clinical studies and surveys, which reported average systolic/diastolic clinic BP levels, proportions of treated/untreated and controlled/uncontrolled patients, and prevalence of cardiovascular risk factors in hypertensive patients followed in either outpatient clinics, hypertension centres or general practice, were considered for the analyses. The overall sample included 211 591 hypertensive patients (119 997 (56.7%) women, age 57.0±10.0 years, body mass index 26.9±4.0 kg m -2, BP levels 146.9±16.7/88.7±9.6 mm Hg). BP levels were 148.2±15.4/87.5±9.3 mm Hg in patients followed by general practitioners (n=168 313, 79.5%), 148.1±17.3/90.1±9.7 mm Hg in those followed by hypertension centres (n=28 180, 13.3%), and 142.4±17.6/86.6±9.8 mm Hg in those followed by outpatient clinics and hospital divisions (n=15 098, 7.1%). Among treated hypertensive patients (n=128 079; 60.5%), 43 008 (33.6%) were reported to have controlled BP levels. Over one decade of observation, we reported that ∼60% of hypertensive patients were treated and among these only 33% achieved effective BP control. These findings highlight the need for more effective interventions to improve management of hypertension in Italy. © 2015 Macmillan Publishers Limited.


PubMed | Azienda Ospedaliera Spedali Civili
Type: Case Reports | Journal: Pediatric surgery international | Year: 2014

We report a child with post-surgical short bowel state who underwent bowel expansion followed by spiral intestinal lengthening and tailoring (SILT) at 10months of age. Growth at 1-year follow-up is along the 15-25th centile on 82% oral calories as normal diet and 18% as parenteral nutrition, and he is passing 2-3 semisolid motions daily. SILT is a versatile technique for reconstructing dilated bowel towards improved propulsion and absorption, and has a role in the management of the short bowel state.

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