29 results on '"Vinci, E."'
Search Results
2. Controversies in the adjuvant treatment of breast cancer: the role of taxanes
- Author
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Di Leo, A., Ciarlo, A., Panella, M., Pozzessere, D., Santini, S., Vinci, E., and Biganzoli, L.
- Published
- 2004
3. The Sicilian network of biological therapy in inflammatory bowel disease: preliminary data on efficacy
- Author
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Orlando A., Macaluso F. S., Fries W., Privitera A. C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello N., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M., and Orlando A., Macaluso F.S., Fries W., Privitera A.C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello N., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M.
- Subjects
Settore MED/09 - Medicina Interna ,biological therapy ,inflammatory bowel disease ,Sicilian network - Abstract
Background: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate all these issues in Sicily through a web based network of all prescribing centers. Methods: From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. Results: From January 2013 to October 2016, 1475 patients were included. Incident cases were 1090. Considering that 16% of patients experienced more than one line of therapy, a total of 1351 treatments were reported. Adalimumab was used in 622 Crohn’s disease (CD) patients and in 83 ulcerative colitis (UC)/unclassified colitis patients. Infliximab was prescribed in 275 CD patients (80 biosimilars) and in 279 UC patients (50 biosimilars). Golimumab was used in 32 UC patients, while vedolizumab in 40 CD patients and in 20 UC patients. In patients with CD, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.9% and 60.2%, respectively, and the rates of response 40.9% and 25.8%, while the rates of remission with infliximab originator were 46.2% and 50.0%, and the rates of response 40.9% and 32.9% (biosimilars: remission 31.0% and response 51.7% after 12 weeks; remission 45.5% and response 36.4% after one year). In UC, after twelve weeks and one year of therapy, the rates of remission with adalimumab were 43.3% and 57.1%, respectively, and the rates of response 36.7% and 19.0%; the rates of remission with infliximab originator were 41.6% and 48.4%, and the rates of response 35.6% and 32.3% (biosimilars: remission 30.0% and response 63.3% after 12 weeks; remission 20.0% and response 40.0% after one year); the rate of remission after 12 weeks of therapy with Golimumab was 22.2%, and the rate of response was 33.3%. After twelve weeks of therapy with Vedolizumab, 28.6% of CD patients were in remission and 32.0% had a response, while the rates of remission and response in UC patients were 33.3% and 22.0%, respectively. Multivariable logistic regression analysis showed that age >50 years was independently linked to lower rates of remission/response at 12 weeks in CD patients (OR 0.613, p=0.046). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, CD patients older than 50 years showed a higher rate of non response at 12 weeks of treatment. Efficacy of biosimilars was overall comparable to that reported for infliximab originator.
- Published
- 2017
4. The sicilian network of biological therapy in inflammatory bowel disease: preliminary data from a prospective study on efficacy and safety
- Author
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Orlando A., Fries W., Privitera A., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C, Magazzù G., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Macaluso F. S., Cottone M., and Orlando A., Fries W., Privitera A., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Calandruccio G., Vassallo R., Romano C, Magazzù G., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Macaluso F.S., Cottone M.
- Subjects
Settore MED/09 - Medicina Interna ,biological therapy ,inflammatory bowel disease ,Sicilian network - Abstract
Background and aim: The monitoring of appropriateness and costs of biological therapy in Inflammatory bowel disease (IBD) is a relevant need. We aimed to evaluate appropriateness, efficacy and safety of biological therapy in IBD in Sicily through a web based network of prescribing centers. Material and methods: The Sicilian network for the monitoring of biological therapy in IBD is composed by a super Hub coordinator center and five Hub plus ten Spoke centers. From January 2013 all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data on remission and response after twelve weeks of biological therapy, and side effects until the end of follow-up of incident cases. Results: From January 2013 to June 2016, 1475 patients were included. Complete data were available in 1338 cases (983 with Crohn’s disease [CD], 345 with ulcerative colitis [UC], and 10 with unclassified colitis). Incident cases were 956 (673 CD, 274 UC, and 9 unclassified colitis). Considering that 12% of patients experienced more than one line of therapy, a total of 1098 treatments were reported. Adalimumab was used in 543 CD patients, in 69 UC patients, and in 4 with unclassified colitis. Infliximab was prescribed in 221 CD patients (64 biosimilars), in 226 UC patients (41 biosimilars), and in 5 patients with unclassified colitis. Golimumab was prebscribed in 29 UC patients, and in 1 patient with unclassified colitis. After twelve weeks, the rate of response with Adalimumab was 46% and the rate of remission was 38% in CD, while the rate of response with Infliximab originator was 48% and the rate of remission 42% (biosimilars: 37% and 50%, respectively). In UC the rate of response with Adalimumab was 46% and the rate of remission was 38%, the rate of response with Infliximab was 41% and the rate of remission 45% (biosimilars: 25% and 64%, respectively), while the rate of response with Golimumab was 47% and the rate of remission was 27%. Overall, the rate of side effects was 17% (9.2% with Adalimumab, 20% with Infliximab originator, 15% with biosimilars, and 17% with Golimumab). Conclusions: In one of the largest series of IBD patients on biological therapy reported to date, the rates of remission and response after twelve weeks were comparable to data from literature, and similar between the different biologics. Efficacy and safety of biosimilars were analogous to those reported for infliximab originator.
- Published
- 2017
5. The sicilian network for inflammatory bowel disease (SN-IBD): preliminary data on efficacy of biological therapy
- Author
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Orlando, A., Macaluso, F., Fries, W., Privitera, A., Cappello, M., Siringo, S., Inserra, G., Magnano, A., Di Mitri, R., Belluardo, N., Scarpulla, G., Magrì, G., Trovatello, A., Carroccio, A., Genova, S., Bertolami, C., Vassallo, R., Romano, C., Pellegrino, S., Citrano, M., Accomando, S., Ventimiglia, M., Renna, S., Orlando, R., Rizzuto, G., Vinci, E., Cottone, M., and Orlando A., Macaluso F.S., Fries W., Privitera A.C., Cappello M., Siringo S., Inserra G., Magnano A., Di Mitri R., Belluardo N., Scarpulla G., Magrì G., Trovatello A., Carroccio A., Genova S., Bertolami C., Vassallo R., Romano C., Pellegrino S., Citrano M., Accomando S., Ventimiglia M., Renna S., Orlando R., Rizzuto G., Vinci E., Cottone M.
- Subjects
Settore MED/09 - Medicina Interna ,Sicilian network ,inflammatory bowel disease ,SN-IBD - Abstract
Introduction: The monitoring of appropriateness, costs, and clinical outcomes of biological therapy in inflammatory bowel disease (IBD) is a relevant need. Aims & Methods: We aimed to evaluate all these issues in Sicily through a webbased network of all prescribing centers. The Sicilian Network for Inflammatory Bowel Disease (SN-IBD) is composed by a super Hub coordinator centre and five Hub plus ten Spoke centres. From January 2013, all IBD patients starting a biological agent (incident cases) or already on treatment (prevalent cases) were entered in a web based software. Herein we report data of incident cases about the efficacy of biological therapy after twelve weeks and one year of treatment. As clinical end-point, we set remission (corresponding to a Mayo Partial Score 52 for UC, and to a Harvey-Bradshaw Index 55 for CD), and response (reduction of Harvey-Bradshaw Index
- Published
- 2017
6. Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
- Author
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Turco, E, Vinci, E, Altieri, F, Ferrari, D, Torres, B, Goldoni, M, Lamorte, G, Tata, A, Mazzoccoli, G, Postorivo, D, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J, Turco, EM, Tata, AM, Vescovi, AL, Turco, E, Vinci, E, Altieri, F, Ferrari, D, Torres, B, Goldoni, M, Lamorte, G, Tata, A, Mazzoccoli, G, Postorivo, D, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J, Turco, EM, Tata, AM, and Vescovi, AL
- Abstract
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment.
- Published
- 2018
7. Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smithâ'Magenis syndrome
- Author
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Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J, Altieri, Filomena, Turco, Elisa Maria, Vinci, Ersilia, Torres, Barbara, Ferrari, Daniela, De Jaco, Antonella, Mazzoccoli, Gianluigi, Lamorte, Giuseppe, Nardone, Annamaria, Della Monica, Matteo, Bernardini, Laura, Vescovi, Angelo Luigi, Rosati, Jessica, Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, Rosati, J, Altieri, Filomena, Turco, Elisa Maria, Vinci, Ersilia, Torres, Barbara, Ferrari, Daniela, De Jaco, Antonella, Mazzoccoli, Gianluigi, Lamorte, Giuseppe, Nardone, Annamaria, Della Monica, Matteo, Bernardini, Laura, Vescovi, Angelo Luigi, and Rosati, Jessica
- Abstract
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role
- Published
- 2018
8. Global Justice Protest Events and the Production of Knowledge about Differences
- Author
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Vinci E. F. Daro
- Subjects
Global justice ,Anthropology ,Cultural diversity ,Political science ,Social change ,General Medicine ,Social science ,Social justice ,Cultural competence ,Cultural pluralism ,Knowledge production ,Social movement - Abstract
Recent social movement activities – in particular, transnationally-coordinated global justice mobilizations – require participants to work across substantial differences in languages, cultural backgrounds, political visions, and organizing traditions. Negotiating such differences is an active, adaptive, and learning-intensive process. In contrast to more institutionalized settings such as schools and workplaces, where tropes like “multiculturalism” figure prominently in treatments of “difference,” I argue that knowledge production in social movement settings cultivates a more intensely relational and dynamic disposition towards differences., Les activités récemment menées par les mouvements sociaux – plus spécifiquement, les mobilisations transnationales de justice globale – amènent les participants à collaborer au-delà de différences parfois substantielles de langues, origines culturelles, visions politiques et traditions d’organisation. La négociation de ces différences s’incarne dans un processus actif et nécessite un effort intense d’adaptation et d’apprentissage. Contrairement aux milieux institutionnels – écoles ou milieux de travail – où les rhétoriques telles que le multiculturalisme oriente de manière évidente la gestion des différences, je soutiens que la création de connaissances au sein des mouvements sociaux favorise une disposition dynamique et intensément relationnelle envers les différences.
- Published
- 2009
- Full Text
- View/download PDF
9. Monitoring the quality of laboratories and the prevalence of resistance to antituberculosis drugs: Italy, 1998–2000
- Author
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Migliori, G. B., Fattorini, L., Vaccarino, R., Besozzi, G., Saltini, C., Orefici, G., Iona, E., Matteelli, A., Fiorentini, F., Codecasa, L. R., Casali, Lucio, Cassone, A., De Santis, A., Giorgio, V., Vinciguerra, P., Angarano, G., Petrozzi, L., Costa, D., Gozzellino, F., Perboni, A., Marchetti, D., Pascali, A., Falcone, F., Mariano, V., Rizza, F., Pretto, P., Turano, A., Carosi, G. P., Farris, A. G., Ligia, G. P., Orani, G., Farris, B., Foschi, C., Trucco, G., Aiolfi, S., Ceruti, T., Parpanesi, M., Calabro, S., Felisatti, G., Tortoli, E., Nutini, S., Montini, G., D'Ambrosio, V., Ceraminiello, A., Bernorio, S., Buono, L., Montesano, P., Vinci, E., Sabato, E., Gamba, S., Crepaldi, P., Magliano, E., Penati, V., Vaccarino, P., Astolfi, A., Bertoli, G., Rupianesi, F., Losi, M., Richeldi, L., Ferrara, Giovanni, Minuccio, E., Napolitano, G., Molinari, G. L., Saini, L., Garzone, A., Vertuccio, C., Marcias, S., Menozzi, M., Marone, P., Peona, V., Nascimbene, C., Pasi, A., Cascina, A., Monaco, A., Penza, O., Pasticci, Maria Bruna, Bistoni, F., Sposini, T., Colorizio, V., Confalonieri, M., Bottrighi, P., Macor, G., Moretti, G., Fatigante, R., Barbaro, A., Agati, G., Zaccara, F., Viola, S., Le Donne, R., Farinelli, G., Mancini, D., Ermeti, M., Longi, R., Tronci, M., Bisetti, A., Altieri, A., and Fadda, G.
- Subjects
Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Tuberculosis ,Prevalence of resistance ,Drug Resistance ,Antitubercular Agents ,Drug resistance ,Proficiency testing ,Drug ,Immigrant ,Susceptibility testing ,Emigration and Immigration ,Humans ,Italy ,Laboratories ,Prevalence ,Drug Resistance, Multiple, Bacterial ,Tuberculosis, Multidrug-Resistant ,Internal medicine ,medicine ,Ethambutol ,business.industry ,Public health ,Isoniazid ,Bacterial ,Multidrug-Resistant ,medicine.disease ,Surgery ,Streptomycin ,business ,Multiple ,Rifampicin ,medicine.drug - Abstract
In 1998 a network of 20 regional tuberculosis (TB) laboratories (the Italian Multicentre Study on Resistance to Antituberculosis drugs (SMIRA) network) was established in Italy to implement proficiency testing and to monitor the prevalence of drug resistance nationwide. The network managed 30% of all TB cases reported in Italy each year. The aim of the present report is to describe: 1) the accuracy of drug-susceptibility testing in the network; 2) the prevalence of drug resistance for the period 1998-2000. Data were collected from the network laboratories. Sensitivity to streptomycin and ethambutol increased from the first survey (1998-1999) to the second survey (2000) from 87.7 to 91.9%. Specificity, predictive values for resistance and susceptibility, efficiency and reproducibility were consistent in both surveys. In previously untreated cases, the prevalence of multidrug-resistance was the same in both surveys (1.2%), while a slight decrease from the first to the second survey was observed for monoresistance to rifampicin (from 0.8 to 0.4%) and isoniazid (from 2.9 to 2%). The significant association found between isoniazid resistance and immigration is a useful indicator for both clinicians managing individual tuberculosis cases and public health services planning control strategies.
- Published
- 2003
- Full Text
- View/download PDF
10. Surveillance of anti-tuberculosis drug resistance: Results of the 1998/1999 proficiency testing in Italy
- Author
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Migliori GB, Ambrosetti M, Fattorini L, Penati V, Vaccarino P, Besozzi G, Ortona L, Saltini C, Orefici G, Moro ML, Iona E, Cassone A, De Santis A, Giorgio V, Vinciguerra P, Angarano G, Petrozzi L, Costa D, Gozzellino F, Perboni A, Marchetti D, Pascali A, Falcone F, Mariano V, Rizza F, Pretto P, Turano A, Matteelli A, Carosi GP, Tedoldi S, Pinsi G, Farris AG, Ligia GP, Orani G, Farris B, Foschi C, Trucco G, Aiolfi S, Ceruti T, Parpanesi M, Calabro S, Felisatti G, Tortoli E, Nutini S, Montini G, Fiorentini F, D'Ambrosio V, Ceraminiello A, Bernorio S, Buono L, Montesano P, Vinci E, Sabato E, Gamba S, Crepaldi P, Bertoli G, Rupianesi F, Losi M, Richeldi L, Ferrara G, Muccio E, Napolitano G, Molinari GL, Saini L, Garzone A, Vertuccio C, Marcias, Menozzi, Marone P, Peona, Nascimbene, Pasi, Cascina, Casali, Monaco, Penza, Pasticci, M.B., Bistoni, Sposini, Colorizio, Confalonieri M, Bottrighi P, Orsi, Schiavi, Macor, Moretti, Fatigante, Barbaro, Agati, Zacarra, Viola, Le Donne, Farinelli, Mancini, Ermeti, Migliori, Gb, Ambrosetti, M, Fattorini, L, Penati, V, Vaccarino, P, Besozzi, G, Ortona, L, Saltini, C, Orefici, G, Moro, Ml, Iona, E, Cassone, A, De Santis, A, Giorgio, V, Vinciguerra, P, Angarano, G, Petrozzi, L, Costa, D, Gozzellino, F, Perboni, A, Marchetti, D, Pascali, A, Falcone, F, Mariano, V, Rizza, F, Pretto, P, Turano, A, Matteelli, A, Carosi, Gp, Tedoldi, S, Pinsi, G, Farris, Ag, Ligia, Gp, Orani, G, Farris, B, Foschi, C, Trucco, G, Aiolfi, S, Ceruti, T, Parpanesi, M, Calabro, S, Felisatti, G, Tortoli, E, Nutini, S, Montini, G, Fiorentini, F, D'Ambrosio, V, Ceraminiello, A, Bernorio, S, Buono, L, Montesano, P, Vinci, E, Sabato, E, Gamba, S, Crepaldi, P, Bertoli, G, Rupianesi, F, Losi, M, Richeldi, L, Ferrara, G, Muccio, E, Napolitano, G, Molinari, Gl, Saini, L, Garzone, A, Vertuccio, C, Marcias, Menozzi, Marone, P, Peona, Nascimbene, Pasi, Cascina, Casali, Monaco, Penza, Pasticci, M., B., Bistoni, Sposini, Colorizio, Confalonieri, M, Bottrighi, P, Orsi, Schiavi, Macor, Moretti, Fatigante, Barbaro, Agati, Zacarra, Viola, Le, Donne, Farinelli, Mancini, and Ermeti
- Subjects
Tuberculosi ,Drug susceptibility testing ,Proficiency testing - Published
- 2000
11. Chondral print on humeral head: an indirect sign of long head biceps tendon instability
- Author
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Castagna, A., Mouhsine, E., Conti, M., Vinci, E., Borroni, M., Giardella, A., and Garofalo, R.
- Subjects
musculoskeletal diseases ,endocrine system ,hormones, hormone substitutes, and hormone antagonists ,Adult Aged *Arthroscopy Biological Markers Female Humans Humerus/*pathology Joint Instability/*diagnosis/physiopathology/surgery Male Middle Aged Prospective Studies Shoulder Dislocation/physiopathology/surgery Shoulder Joint/physiopathology/surgery Tendons/*physiopathology/surgery - Abstract
Long head biceps (LHB) tendon pathologies are becoming increasingly recognized causes of shoulder pain in the published literature. Instability of LHB presenting as dislocation or subluxation has been recently recognized as a possible cause of disabling pain or discomfort of the shoulder. A clinical diagnosis of LHB instability is very difficult and often confounding because of association with other shoulder pathologies. However, an early diagnosis of LHB instability is important in order to prevent the evolution of lesions of the biceps pulley until an internal anterosuperior impingement of the shoulder (ASI) and subscapular tear occur. The advent of arthroscopy contributed to enhance understandings. The goal of this article is to describe an arthroscopic sign, the chondral print on the humeral head, associated with a LHB instability, that when present can be very useful to help the surgeon to make the diagnosis of unstable LHB tendon.
- Published
- 2007
12. Elevated plasma total homocystein in centenarians
- Author
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Malaguarnera, Mariano, Pistone, G, Motta, Massimo, Vinci, E., Oreste, G., and Musumeci, G. AVELLONE AND S.
- Published
- 2004
13. Focal segmental glomerulosclerosis and hepatitis C virus
- Author
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Motta, Massimo, Malaguarnera, Mariano, Restuccia, N, Romano, M, Vinci, E, and Pistone, G.
- Published
- 2001
14. Increase of serum B2-Microglobulin in patients affected by HCC-HCV correlated
- Author
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Malaguarnera, Mariano, DI FAZIO, I, Ferlito, L, Pistone, G, Laurino, A, Vinci, E, and Mazzoleni, G.
- Published
- 2000
15. 5 Fluororacil Alone versus 5 Fluororacil plus folinic acid in the treatment of colorectal carcinoma: metanalysis
- Author
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LO BELLO, Lucia, Pistone, G., Restuccia, S., Vinci, E., Mazzoleni, G., and Malaguarnera, Mariano
- Subjects
CLINICAL-RESEARCH ,CANCER-PATIENTS ,computer-based data analysis - Published
- 2000
16. Trattamento dell’ipertrigliceridemia : aspetti attuali
- Author
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Malaguarnera, Mariano, Giugno, I., Ruello, P., Vinci, E., Panebianco, M. P., and Motta, Massimo
- Published
- 2000
17. Obesità e idoneità al lavoro: considerazioni medico - legali. Contributo statistico
- Author
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Vinci, E, Prestigiacomo, C, and Conti, Stefano
- Published
- 1994
18. La malattia diabetica quale momento invalidante nei processi di inserimento lavorativo
- Author
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Prestigiacomo, Claudio, Conti, Stefano, and Vinci, E.
- Published
- 1994
19. Local phenol injection in the treatment of Morton's neuroma
- Author
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Nogarin, L., Magnan, B., Schiavon, R., and Vinci, E.
- Subjects
phenol ,non-surgical ,Interdigital neuritis ,Alcoholization ,Morton's neuroma - Published
- 1993
20. La fenolizzazione nel trattamento incruento del neuroma di Morton
- Author
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Nogarin, L., Magnan, Bruno, Schiavon, R., and Vinci, E.
- Subjects
neuroma di Morton ,fenolizzazione ,trattamento incruento - Published
- 1993
21. Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7
- Author
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Ada Maria Tata, Gianluigi Mazzoccoli, Marina Goldoni, Diana Postorivo, Ersilia Vinci, Elisa Maria Turco, Filomena Altieri, Giuseppe Lamorte, Laura Bernardini, Jessica Rosati, Daniela Ferrari, Angelo L. Vescovi, Barbara Torres, Matteo Della Monica, Turco, E, Vinci, E, Altieri, F, Ferrari, D, Torres, B, Goldoni, M, Lamorte, G, Tata, A, Mazzoccoli, G, Postorivo, D, Della Monica, M, Bernardini, L, Vescovi, A, and Rosati, J
- Subjects
Adult ,DNA Copy Number Variations ,alpha7 Nicotinic Acetylcholine Receptor ,Induced Pluripotent Stem Cells ,Karyotype ,Real-Time Polymerase Chain Reaction ,03 medical and health sciences ,0302 clinical medicine ,Chromosome regions ,Gene duplication ,Humans ,Copy-number variation ,Gene ,lcsh:QH301-705.5 ,Cells, Cultured ,Embryoid Bodies ,Genetics ,Chromosomes, Human, Pair 15 ,biology ,BIO/13 - BIOLOGIA APPLICATA ,CHRNA7 ,Chromosome ,Cell Biology ,General Medicine ,BIO/11 - BIOLOGIA MOLECOLARE ,Penetrance ,nervous system ,lcsh:Biology (General) ,030220 oncology & carcinogenesis ,biology.protein ,Developmental Biology ,Female ,030217 neurology & neurosurgery - Abstract
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment.
- Published
- 2018
22. Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
- Author
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Giuseppe Lamorte, Jessica Rosati, Daniela Ferrari, Laura Bernardini, Gianluigi Mazzoccoli, Matteo Della Monica, Angelo L. Vescovi, Antonella De Jaco, Elisa Maria Turco, Annamaria Nardone, Ersilia Vinci, Filomena Altieri, Barbara Torres, Altieri, F, Turco, E, Vinci, E, Torres, B, Ferrari, D, De Jaco, A, Mazzoccoli, G, Lamorte, G, Nardone, A, Della Monica, M, Bernardini, L, Vescovi, A, and Rosati, J
- Subjects
Adult ,0301 basic medicine ,Cellular differentiation ,Induced Pluripotent Stem Cells ,Cell Culture Techniques ,Retinoic acid ,030105 genetics & heredity ,Biology ,medicine.disease_cause ,Mice ,03 medical and health sciences ,chemistry.chemical_compound ,medicine ,Animals ,Humans ,Coding region ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,Gene ,Embryoid Bodies ,Genetics ,Mutation ,Base Sequence ,Teratoma ,Genetic disorder ,Cell Differentiation ,Cell Biology ,General Medicine ,Smith–Magenis syndrome ,medicine.disease ,lcsh:Biology (General) ,chemistry ,Trans-Activators ,Female ,Smith-Magenis Syndrome ,Transcription Factors ,Developmental Biology - Abstract
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.
- Published
- 2018
- Full Text
- View/download PDF
23. On the importance of primary and community healthcare in relation to global health and environmental threats: lessons from the COVID-19 crisis.
- Author
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Lauriola P, Martín-Olmedo P, Leonardi GS, Bouland C, Verheij R, Dückers MLA, van Tongeren M, Laghi F, van den Hazel P, Gokdemir O, Segredo E, Etzel RA, Abelsohn A, Bianchi F, Romizi R, Miserotti G, Romizi F, Bortolotti P, Vinci E, Giustetto G, Santamaria M, Serafini A, Pegoraro S, Agius R, and Zeka A
- Subjects
- Climate Change, Education, Global Health, Humans, Politics, SARS-CoV-2, Socioeconomic Factors, COVID-19 epidemiology, Community Health Services, Public Health
- Abstract
In the course of the COVID-19 pandemic, it has become clear that primary healthcare systems play a critical role in clinical care, such as patient screening, triage, physical and psychological support and also in promoting good community advice and awareness in coordination with secondary healthcare and preventive care. Because of the role of social and environmental factors in COVID-19 transmission and burden of disease, it is essential to ensure that there is adequate coordination of population-based health services and public health interventions. The COVID-19 pandemic has shown the primary and community healthcare (P&CHC) system's weaknesses worldwide. In many instances, P&CHC played only a minor role, the emphasis being on hospital and intensive care beds. This was compounded by political failures, in supporting local community resilience. Placing community building, social cohesion and resilience at the forefront of dealing with the COVID-19 crisis can help align solutions that provide a vision of 'planetary health'. This can be achieved by involving local well-being and participation in the face of any pervasive health and environmental crisis, including other epidemics and large-scale ecological crises. This paper proposes that P&CHC should take on two critical roles: first, to support local problem-solving efforts and to serve as a partner in innovative approaches to safeguarding community well-being; and second, to understand the local environment and health risks in the context of the global health perspective. We see this as an opportunity of immediate value and broad consequence beyond the control of the COVID-19 pandemic., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2021
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24. SULT4A1 Modulates Synaptic Development and Function by Promoting the Formation of PSD-95/NMDAR Complex.
- Author
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Culotta L, Scalmani P, Vinci E, Terragni B, Sessa A, Broccoli V, Mantegazza M, Boeckers T, and Verpelli C
- Subjects
- Animals, Cells, Cultured, Dendritic Spines metabolism, Female, HEK293 Cells, Humans, Mice, Mice, Inbred C57BL, NIMA-Interacting Peptidylprolyl Isomerase metabolism, Rats, Sulfotransferases genetics, Synapses physiology, Synaptic Transmission, Disks Large Homolog 4 Protein metabolism, Neurogenesis, Receptors, N-Methyl-D-Aspartate metabolism, Sulfotransferases metabolism, Synapses metabolism
- Abstract
Sulfotransferase 4A1 (SULT4A1) is a cytosolic sulfotransferase that is highly conserved across species and extensively expressed in the brain. However, the biological function of SULT4A1 is unclear. SULT4A1 has been implicated in several neuropsychiatric disorders, such as Phelan-McDermid syndrome and schizophrenia. Here, we investigate the role of SULT4A1 within neuron development and function. Our data demonstrate that SULT4A1 modulates neuronal branching complexity and dendritic spines formation. Moreover, we show that SULT4A1, by negatively regulating the catalytic activity of Pin1 toward PSD-95, facilitates NMDAR synaptic expression and function. Finally, we demonstrate that the pharmacological inhibition of Pin1 reverses the pathologic phenotypes of neurons knocked down by SULT4A1 by specifically restoring dendritic spine density and rescuing NMDAR-mediated synaptic transmission. Together, these findings identify SULT4A1 as a novel player in neuron development and function by modulating dendritic morphology and synaptic activity. SIGNIFICANCE STATEMENT Sulfotransferase 4A1 (SULT4A1) is a brain-specific sulfotransferase highly expressed in neurons. Different evidence has suggested that SULT4A1 has an important role in neuronal function and that SULT4A1 altered expression might represent a contributing factor in multiple neurodevelopmental disorders. However, the function of SULT4A1 in the mammalian brain is still unclear. Here, we demonstrate that SULT4A1 is highly expressed at postsynaptic sites where it sequesters Pin1, preventing its negative action on synaptic transmission. This study reveals a novel role of SULT4A1 in the modulation of NMDA receptor activity and strongly contributes to explaining the neuronal dysfunction observed in patients carrying deletions of SULTA41 gene., (Copyright © 2020 the authors.)
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- 2020
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25. Letter: SPOSIB SB2-a Sicilian prospective observational study of IBD patients treated with infliximab biosimilar SB2.
- Author
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Macaluso FS, Cappello M, Giuffrida E, Fries W, Centritto A, Privitera AC, Inserra G, Vassallo R, Magnano A, Vinci E, Garufi S, Ventimiglia M, Renna S, Orlando R, Rizzuto G, Cottone M, and Orlando A
- Subjects
- Humans, Infliximab, Prospective Studies, Antirheumatic Agents, Biosimilar Pharmaceuticals, Inflammatory Bowel Diseases
- Published
- 2019
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26. Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
- Author
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Turco EM, Vinci E, Altieri F, Ferrari D, Torres B, Goldoni M, Lamorte G, Tata AM, Mazzoccoli G, Postorivo D, Della Monica M, Bernardini L, Vescovi AL, and Rosati J
- Subjects
- Adult, Cells, Cultured, Embryoid Bodies cytology, Female, Humans, Karyotype, Real-Time Polymerase Chain Reaction, Chromosomes, Human, Pair 15 genetics, DNA Copy Number Variations genetics, Induced Pluripotent Stem Cells cytology, Induced Pluripotent Stem Cells metabolism, alpha7 Nicotinic Acetylcholine Receptor genetics
- Abstract
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV), which causes its duplication or deletion. The clinical significance of CHRNA7 duplications is unknown so far, but there are several research data suggesting that they may be pathogenic, with reduced penetrance. We have produced an iPS cell line from a single healthy donor's fibroblasts carrying a 15q13.3 CNV, including CHRNA7 in order to study the exact role of this CNV during the neurodevelopment., (Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2018
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27. Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.
- Author
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Altieri F, Turco EM, Vinci E, Torres B, Ferrari D, De Jaco A, Mazzoccoli G, Lamorte G, Nardone A, Della Monica M, Bernardini L, Vescovi AL, and Rosati J
- Subjects
- Adult, Animals, Base Sequence, Cell Differentiation, Embryoid Bodies cytology, Female, Humans, Mice, Teratoma pathology, Trans-Activators, Cell Culture Techniques methods, Induced Pluripotent Stem Cells cytology, Mutation genetics, Smith-Magenis Syndrome genetics, Transcription Factors genetics
- Abstract
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role., (Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.)
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- 2018
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28. ANMCO Position Paper: the use of non-vitamin K dependent new oral anticoagulant(s) in pulmonary embolism therapy and prevention.
- Author
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Enea I, Roncon L, Gulizia MM, Azzarito M, Becattini C, Bongarzoni A, Casazza F, Cuccia C, D'Agostino C, Rugolotto M, Vatrano M, Vinci E, Fenaroli P, Formigli D, Silvestri P, Nardi F, Vedovati MC, and Scherillo M
- Abstract
The new oral anticoagulants (NOACs) have radically changed the approach to the treatment and prevention of thromboembolic pulmonary embolism. The authors of this position paper face, in succession, issues concerning NOACs, including (i) their mechanism of action, pharmacodynamics, and pharmacokinetics; (ii) the use in the acute phase with the 'double drug single dose' approach or with 'single drug double dose'; (iii) the use in the extended phase with demonstrated efficacy and with low incidence of bleeding events; (iv) the encouraging use of NOACs in particular subgroups of patients such as those with cancer, the ones under- or overweight, with renal insufficiency (creatinine clearance > 30 mL/min), the elderly (>75 years); (v) they propose a possible laboratory clinical pathway for follow-up; and (vi) carry out an examination on the main drug interactions, their potential bleeding risk, and the way to deal with some bleeding complications. The authors conclude that the use of NOACs both in the acute phase and in the extended phase is equally effective to conventional therapy and associated with fewer major bleeding events, which make their use in patients at higher risk of recurrences safer.
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- 2017
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29. Depression in older breast cancer survivors.
- Author
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Frazzetto P, Vacante M, Malaguarnera M, Vinci E, Catalano F, Cataudella E, Drago F, Malaguarnera G, Basile F, and Biondi A
- Subjects
- Aged, Breast Neoplasms therapy, Case-Control Studies, Female, Health Surveys, Humans, Middle Aged, Neoplasm Recurrence, Local psychology, Psychological Tests, Self Report, Breast Neoplasms psychology, Depression etiology, Quality of Life psychology, Survivors psychology
- Abstract
Background: Breast cancer is the most commonly diagnosed cancer among U.S. women .The 5-year survival rate for this tumour is nowadays 85%, and the 61% of these women are still alive at 15 years. When depression symptoms are present as a consequence of breast cancer treatments, they may interfere negatively with patients' quality of life. The aim of this study was to examine the effects of breast cancer treatment on the quality of life and the impact of depression on the health-related life., Methods: We enrolled 173 women aged 65-75 years with early stage breast cancer diagnosed over the last 10 years, initially recruited to participate in a study examining heath-related quality of life in the first 5 years after breast cancer diagnosis. Participants were divided into four groups: 1) 46 breast cancer survivors (aged 65-70); 2) 62 women diagnosed with breast cancer (aged 65-69); 3) 32 women with recurrent breast cancer after 10 years (aged 66-75); 4) 30 women in good health status (aged 60-70). The Geriatric Depression Scale was used as a routine part of a comprehensive geriatric assessment. Collection of data for the application of instruments, such as sociodemographic variables (age, educational level, social state) and clinical date (stage and time of the disease and treatment), was carried out by trained researcher assistants., Results: Our results demonstrated the correlation between depression and previous cancer experiences. In fact, in patients with cancer experience, the grade of depression was significantly higher compared to healthy subjects. Furthermore, we demonstrated that the patients with recurrent breast cancer were severely depressed compared to other groups., Conclusions: A high percentage of participants were identified as having emotional and/or well being problems. Further investigations on the cause of depression problems cancer-related are needed.
- Published
- 2012
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