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5. Corrigendum to “Impact of hemoglobin levels at admission on outcomes among elderly patients with acute coronary syndrome treated with low-dose Prasugrel or clopidogrel: A sub-study of the ELDERLY ACS 2 trial” [Int J Cardiol. 2022 Dec 15;369:5-11]

Author

De Luca, G., primary, Verdoia, M., additional, Morici, N., additional, Ferri, L.A., additional, Piatti, L., additional, Grosseto, D., additional, Bossi, I., additional, Sganzerla, P., additional, Tortorella, G., additional, Cacucci, M., additional, Ferrario, M., additional, Murena, E., additional, Tondi, S., additional, Toso, A., additional, Bongioanni, S., additional, Ravera, A., additional, Corrada, E., additional, Mariani, M., additional, Di Ascenzo, L., additional, Petronio, A.S., additional, Cavallini, C., additional, Vitrella, G., additional, Antonicelli, R., additional, Cesana, B.M., additional, De Luca, L., additional, Ottani, F., additional, Moffa, N., additional, Savonitto, S., additional, and De Servi, S., additional

Published
2023
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8. Effect of Industry 4.0 on the relationship between socio-technical practices and workers' performance

Author

Tortorella, G, Fogliatto, FS, Kumar, M, Gonzalez, V, Pepper, M, Tortorella, G, Fogliatto, FS, Kumar, M, Gonzalez, V, and Pepper, M

Abstract

Purpose This paper aims to examine the moderating effect of Industry 4.0 (I4.0) technologies on the relationship between socio-technical (ST) practices and workers' health, quality and productivity performance. Design/methodology/approach In this paper, 192 practitioners from different manufacturing firms adopting I4.0 technologies were surveyed, analyzed the collected data using multivariate techniques and discussed the results in light of ST theory. Findings Findings indicate that I4.0 moderates the relationship between ST practices and performance, to an extent and direction that varied according to the focus of the technologies and practices adopted. Originality/value The I4.0 movement has triggered changes in the work organization at unprecedented rates, impacting firms' social and technical aspects. This study bridges a gap in the literature concerning the integration of I4.0 technologies into manufacturing firms adopting ST practices, enabling the verification of the moderating effects on workers' performance. Although previous studies have investigated that relationship, the moderating effect of I4.0 on performance is still underexplored, characterizing an important contribution of this research.

Published
2023

12. Effects of Lean Interventions Supported by Digital Technologies on Healthcare Services: A Systematic Review

Author

Tlapa, D, Tortorella, G, Fogliatto, F, Kumar, M, Mac Cawley, A, Vassolo, R, Enberg, L, Baez-Lopez, Y, Tlapa, D, Tortorella, G, Fogliatto, F, Kumar, M, Mac Cawley, A, Vassolo, R, Enberg, L, and Baez-Lopez, Y

Abstract

Despite the increasing utilization of lean practices and digital technologies (DTs) related to Industry 4.0, the impact of such dual interventions on healthcare services remains unclear. This study aims to assess the effects of those interventions and provide a comprehensive understanding of their dynamics in healthcare settings. The methodology comprised a systematic review following the PRISMA guidelines, searching for lean interventions supported by DTs. Previous studies reporting outcomes related to patient health, patient flow, quality of care, and efficiency were included. Results show that most of the improvement interventions relied on lean methodology followed by lean combined with Six Sigma. The main supporting technologies were simulation and automation, while emergency departments and laboratories were the main settings. Most interventions focus on patient flow outcomes, reporting positive effects on outcomes related to access to service and utilization of services, including reductions in turnaround time, length of stay, waiting time, and turnover time. Notably, we found scarce outcomes regarding patient health, staff wellbeing, resource use, and savings. This paper, the first to investigate the dual intervention of DTs with lean or lean-Six Sigma in healthcare, summarizes the technical and organizational challenges associated with similar interventions, encourages further research, and promotes practical applications.

Published
2022

13. Statistical Modelling for Simulating and Interpreting an Egg Packaging Process for Giveaway Mitigation

Author

Armas Cervantes, A, Tan, L, Ko, B, Luz Tortorella, G, Palmer, M, Kirley, M, Armas Cervantes, A, Tan, L, Ko, B, Luz Tortorella, G, Palmer, M, and Kirley, M

Abstract

Giveaway, the excess product being packed into orders, contributes to revenue loss that pre-packaged food manufacturers care about the most. In collaboration with an egg packaging company, this study aims to discover operation rules to mitigate the giveaway in egg orders. For that, two variables have been raised as potential controllable factors of the giveaway. One statistical model has been developed to better interpret the experimental results by understanding the underlying rules of the egg grading machine. The experiments have been accurately reproduced by a simulation using the estimated model parameters, indicating the model's success. Based on the experiment results, we claim that the number of accepted egg grades significantly influences the final giveaway ratio. Limitations and further potentials of the statistical model have also been discussed.

Published
2022

14. Screening for atrial fibrillation in the general population: experience from a cardiovascular risk campaign in the Emilia-Romagna Region|Screening della fibrillazione atriale nella popolazione generale: esperienza della campagna educazionale sul rischio cardiovascolare della Regione Emilia-Romagna

Author

Di Pasquale, G., Cardelli, L. S., Canovi, L., Dal Passo, B., Frascaro, F., Zanarelli, L., Guardigli, G., Campo, G., Aschieri, D., Vignali, L., Navazio, A., Rubboli, A., Ortolani, P., Galvani, M., Ni, M., Piovaccari, G., Tortorici, G., Urbinati, S., Tondi, S., Sassone, B., Tortorella, G., De Palma, R., Casella, G., and Boriani, G.

Subjects
Male, Stroke, Heart Disease Risk Factors, Risk Factors, Cardiovascular Diseases, Thromboembolism, Atrial Fibrillation, Humans, Female, Risk Assessment
Published
2022

15. Outcomes of Elderly Patients with ST-Elevation or Non-ST-Elevation Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention

Author

Morici, N, Savonitto, S, Ferri, L, Grosseto, D, Bossi, I, Sganzerla, P, Tortorella, G, Cacucci, M, Ferrario, M, Crimi, G, Murena, E, Tondi, S, Toso, A, Gandolfo, N, Ravera, A, Corrada, E, Mariani, M, Di Ascenzo, L, Petronio, A, Cavallini, C, Vitrella, G, Antonicelli, R, Piscione, F, Rogacka, R, Antolini, L, Alicandro, G, La Vecchia, C, Piatti, L, De Servi, S, Morici N., Savonitto S., Ferri L. A., Grosseto D., Bossi I., Sganzerla P., Tortorella G., Cacucci M., Ferrario M., Crimi G., Murena E., Tondi S., Toso A., Gandolfo N., Ravera A., Corrada E., Mariani M., Di Ascenzo L., Petronio A. S., Cavallini C., Vitrella G., Antonicelli R., Piscione F., Rogacka R., Antolini L., Alicandro G., La Vecchia C., Piatti L., De Servi S., Morici, N, Savonitto, S, Ferri, L, Grosseto, D, Bossi, I, Sganzerla, P, Tortorella, G, Cacucci, M, Ferrario, M, Crimi, G, Murena, E, Tondi, S, Toso, A, Gandolfo, N, Ravera, A, Corrada, E, Mariani, M, Di Ascenzo, L, Petronio, A, Cavallini, C, Vitrella, G, Antonicelli, R, Piscione, F, Rogacka, R, Antolini, L, Alicandro, G, La Vecchia, C, Piatti, L, De Servi, S, Morici N., Savonitto S., Ferri L. A., Grosseto D., Bossi I., Sganzerla P., Tortorella G., Cacucci M., Ferrario M., Crimi G., Murena E., Tondi S., Toso A., Gandolfo N., Ravera A., Corrada E., Mariani M., Di Ascenzo L., Petronio A. S., Cavallini C., Vitrella G., Antonicelli R., Piscione F., Rogacka R., Antolini L., Alicandro G., La Vecchia C., Piatti L., and De Servi S.

Abstract

Introduction: Acute coronary syndromes (ACS) have been classified according to the finding of ST-segment elevation on the presenting electrocardiogram, with different treatment strategies and practice guidelines. However, a comparative description of the clinical characteristics and outcomes of acute coronary syndrome elderly patients undergoing percutaneous coronary intervention during index admission has not been published so far. Methods: Retrospective cohort study of patients enrolled in the Elderly ACS-2 multicenter randomized trial. Main outcome measures were crude cumulative incidence and cause-specific hazard ratio (cHR) of cardiovascular death, noncardiovascular death, reinfarction, and stroke. Results: Of 1443 ACS patients aged >75 years (median age 80 years, interquartile range 77-84), 41% were classified as ST-elevation myocardial infarction (STEMI), and 59% had non-ST-elevation ACS (NSTEACS) (48% NSTEMI and 11% unstable angina). As compared with those with NSTEACS, STEMI patients had more favorable baseline risk factors, fewer prior cardiovascular events, and less severe coronary disease, but lower ejection fraction (45% vs 50%, P <.001). At a median follow-up of 12 months, 51 (8.6%) STEMI patients had died, vs 39 (4.6%) NSTEACS patients. After adjusting for sex, age, and previous myocardial infarction, the hazard among the STEMI group was significantly higher for cardiovascular death (cHR 1.85; 95% confidence interval [CI], 1.02-3.36), noncardiovascular death (cHR 2.10; 95% CI, 1.01-4.38), and stroke (cHR 4.8; 95% CI, 1.7-13.7). Conclusions: Despite more favorable baseline characteristics, elderly STEMI patients have worse survival and a higher risk of stroke compared with NSTEACS patients after percutaneous coronary intervention.

Published
2019

19. Hospital Investment Decisions in Healthcare 4.0 Technologies: Scoping Review and Framework for Exploring Challenges, Trends, and Research Directions

Author

Santiago Vassolo, R, Francisco Mac Cawley, A, Luz Tortorella, G, Fogliatto, FS, Tlapa, D, Narayanamurthy, G, Santiago Vassolo, R, Francisco Mac Cawley, A, Luz Tortorella, G, Fogliatto, FS, Tlapa, D, and Narayanamurthy, G

Abstract

BACKGROUND: Alternative approaches to analyzing and evaluating health care investments in state-of-the-art technologies are being increasingly discussed in the literature, especially with the advent of Healthcare 4.0 (H4.0) technologies or eHealth. Such investments generally involve computer hardware and software that deal with the storage, retrieval, sharing, and use of health care information, data, and knowledge for communication and decision-making. Besides, the use of these technologies significantly increases when addressed in bundles. However, a structured and holistic approach to analyzing investments in H4.0 technologies is not available in the literature. OBJECTIVE: This study aims to analyze previous research related to the evaluation of H4.0 technologies in hospitals and characterize the most common investment approaches used. We propose a framework that organizes the research associated with hospitals' H4.0 technology investment decisions and suggest five main research directions on the topic. METHODS: To achieve our goal, we followed the standard procedure for scoping reviews. We performed a search in the Crossref, PubMed, Scopus, and Web of Science databases with the keywords investment, health, industry 4.0, investment, health technology assessment, healthcare 4.0, and smart in the title, abstract, and keywords of research papers. We retrieved 5701 publications from all the databases. After removing papers published before 2011 as well as duplicates and performing further screening, we were left with 244 articles, from which 33 were selected after in-depth analysis to compose the final publication portfolio. RESULTS: Our findings show the multidisciplinary nature of the research related to evaluating hospital investments in H4.0 technologies. We found that the most common investment approaches focused on cost analysis, single technology, and single decision-maker involvement, which dominate bundle analysis, H4.0 technology value considerations, and m

Published
2021

21. How do cardiologists select patients for dual antiplatelet therapy continuation beyond 1 year after a myocardial infarction? Insights from the EYESHOT Post-MI Study

Author

De Luca L., Colivicchi F., Meessen J., Uguccioni M., Piscione F., Bernabo P., Lardieri G., Granatelli A., Gabrielli D., Gulizia M. M., Silverio A., Benvenga R. M., Mascia F., Fusco A., Cicala S., Oltrona Visconti L., Marinoni B., Canosi U., Cirillo P., Trimarco B., Ziviello F., Grosseto D., Menozzi M., Mezzena D., Mauro C., Sasso A., Bellis A., Calabro P., Gragnano F., Cesaro A., Venturelli V., Porretta V., Borrelli N., Indolfi C., De Rosa S., Torella D., Morici N., Molfese M., Della Rovere F., Caiffa T., Moretto G., Grippo G., Di Vincenzo E., Lucisano L., Pennacchi M., Geraci G., Sanfilippo N., Ledda A., Di Lenarda A., Cherubini A., Russo G., Piemonte F., Di Donato A., Carraturo A., Villari B., Ciampi Q., Contaldi C., Pacher V., Corrada E., Cattani D., Nassiacos D., Meloni S., Barco B., Bonmassari R., Bertoldi A., Tedoldi F., Cannone M., Valenti G., Musci R. L., Caldarola P., Locuratolo N., Sublimi Saponetti L., Gentili L., Maiandi C., Caputo M., Capparuccia C. A., Tonella T., Massari F. M., Lupi A., Tessitori M., Montano M., Scaglione A., Torri A., Tortorella G., Navazio A., Cemin R., Latina L., Briguglia D., Marino R., Scalvini S., Zanelli E., Paganini V., Riboni G., Leiballi E., Della Mattia A., Imperadore F., Tespili M., Santangelo G., Parravicini U., Dellavesa P., Testa R., Venturini E., Feola M., Testa M., Crisci V., Tramontana M., Robiglio L., Varbella F., Meynet I., Galati A., Maddaluna A., Bilato C., Loddo I., Licciardello G., Cassaniti L., Scherillo M., Formigli D., Marullo L., Chianese L., Paolillo C., De Santis A. P. A., Brunetti N. D., Bottigliero D., Della Bona R., Giannico M. B., Tramarin R., Lucibello S., Perna G. P., Marini M., Colavita A. R., Raziliop A., Francese G. M., Mariani M., Collauto F., D'Urbano M., Naio R., Ando G., Saporito F., Assanelli E. M., Cabiati A., Crivaro A., Alberti S., Marchese I., Nejat T., Refice S., Raino R., Aiello A., Cristinziani G. R., Barilla F., Iorio R., Mascelli G., Tartaglione S. N., Di Chiara G., D'Andrea D., Antonicelli R., Malatesta G., Di Mario C., Mattesini A., Tramontana L., Conti S., Sommariva L., Celestini A., Amico F., Giubilato S., Amico A. F., De Filippis M., Pasini G. F., Triggiani M., Ferrara V., Cappetti S., Carugo S., Lucreziotti S., Persico M., Gizzi G., Cipolla T., Caronia A., Buia E., Pastori P., Scarpignato M., Biscottini E., Poletti F., Vimercati C., Pirola R., Barbieri E., Dugo C., De Cesare N., De Benedictis M. L., Ruggeri A., Campana C., Bonura S., Vigna C., Marchese N., Partesana N. G., Bandini P., Farinola G., Santoro D., Cassadonte F., Calabro F., Sansoni M., Abrignani M. G., Bonura F., Benvenuto M., Liso A., Passero T., Mori I., Pozzoni B., Prati F., Finocchiaro M. L., Tufano N., Miserrafiti B., Lacquaniti V., Del Piccolo F., Mohamad B., Spinnler M. T., Bovolo V., Rebulla E., Pieri M., Paloscia L., Di Clemente D., Mazzucco G., Micanti A., Peci P., Ornago O., Proietti F., Michisanti M., Reverzani A., Donatini A., Costa P., Russo S., Franceschini Grisolia E., Mario L., Di Palma F., Dell'Aquila F., Maestroni A., Caico S. I., De Caro G., Attianese L., Perotti S., Cotti Cometti V., Astengo D., Guerri E., Cianflone D., Maranta F., Esposito N., Malvezzi Caracciolo D'Aquino M., Caliendo L., Ricci C., Ceruso C. P., Lanteri S., Serdoz R., Bruno E., De Matteis C., Campagnuolo C., Ammirati M. A., Corrado V. M., Amado Eleas M. A., Fattore L., Ippoliti C., Turiano G., Piergentili C., Chiarella F., Capogrosso P., Perotti M., Di Marco S., Sibilio G., Di Lorenzo L., Aurelio A., Ramondo A. B., Zanna D., Cernetti C., Napolitano G., Negroni S., Alessandri N., Rigo F., Giusti F., Casu G., Vicentini A., Calculli G., Fera M. S., Lettica G. V., Vagheggini G., Piti A., Porfidia A., Di Leo A., Ravera A., Ciotta E., Sacca S., Silvestri O., Isidori S., Natali P., Anselmi M., Testa L., Antonelli A., Tavasci E., Furgi G., Lavorgna A., Gasparetto N., Bisceglia T., De Luca, L., Colivicchi, F., Meessen, J., Uguccioni, M., Piscione, F., Bernabo, P., Lardieri, G., Granatelli, A., Gabrielli, D., Gulizia, M. M., Silverio, A., Benvenga, R. M., Mascia, F., Fusco, A., Cicala, S., Oltrona Visconti, L., Marinoni, B., Canosi, U., Cirillo, P., Trimarco, B., Ziviello, F., Grosseto, D., Menozzi, M., Mezzena, D., Mauro, C., Sasso, A., Bellis, A., Calabro, P., Gragnano, F., Cesaro, A., Venturelli, V., Porretta, V., Borrelli, N., Indolfi, C., De Rosa, S., Torella, D., Morici, N., Molfese, M., Della Rovere, F., Caiffa, T., Moretto, G., Grippo, G., Di Vincenzo, E., Lucisano, L., Pennacchi, M., Geraci, G., Sanfilippo, N., Ledda, A., Di Lenarda, A., Cherubini, A., Russo, G., Piemonte, F., Di Donato, A., Carraturo, A., Villari, B., Ciampi, Q., Contaldi, C., Pacher, V., Corrada, E., Cattani, D., Nassiacos, D., Meloni, S., Barco, B., Bonmassari, R., Bertoldi, A., Tedoldi, F., Cannone, M., Valenti, G., Musci, R. L., Caldarola, P., Locuratolo, N., Sublimi Saponetti, L., Gentili, L., Maiandi, C., Caputo, M., Capparuccia, C. A., Tonella, T., Massari, F. M., Lupi, A., Tessitori, M., Montano, M., Scaglione, A., Torri, A., Tortorella, G., Navazio, A., Cemin, R., Latina, L., Briguglia, D., Marino, R., Scalvini, S., Zanelli, E., Paganini, V., Riboni, G., Leiballi, E., Della Mattia, A., Imperadore, F., Tespili, M., Santangelo, G., Parravicini, U., Dellavesa, P., Testa, R., Venturini, E., Feola, M., Testa, M., Crisci, V., Tramontana, M., Robiglio, L., Varbella, F., Meynet, I., Galati, A., Maddaluna, A., Bilato, C., Loddo, I., Licciardello, G., Cassaniti, L., Scherillo, M., Formigli, D., Marullo, L., Chianese, L., Paolillo, C., De Santis, A. P. A., Brunetti, N. D., Bottigliero, D., Della Bona, R., Giannico, M. B., Tramarin, R., Lucibello, S., Perna, G. P., Marini, M., Colavita, A. R., Francese, G. M., Mariani, M., Collauto, F., D'Urbano, M., Naio, R., Ando, G., Saporito, F., Assanelli, E. M., Cabiati, A., Crivaro, A., Alberti, S., Marchese, I., Nejat, T., Refice, S., Aiello, A., Cristinziani, G. R., Barilla, F., Iorio, R., Mascelli, G., Tartaglione, S. N., Di Chiara, G., D'Andrea, D., Antonicelli, R., Malatesta, G., Di Mario, C., Mattesini, A., Tramontana, L., Conti, S., Sommariva, L., Celestini, A., Amico, F., Giubilato, S., Amico, A. F., De Filippis, M., Pasini, G. F., Triggiani, M., Ferrara, V., Cappetti, S., Carugo, S., Lucreziotti, S., Persico, M., Gizzi, G., Cipolla, T., Caronia, A., Buia, E., Pastori, P., Scarpignato, M., Biscottini, E., Poletti, F., Vimercati, C., Pirola, R., Barbieri, E., Dugo, C., De Cesare, N., De Benedictis, M. L., Ruggeri, A., Campana, C., Bonura, S., Vigna, C., Marchese, N., Partesana, N. G., Bandini, P., Farinola, G., Santoro, D., Cassadonte, F., Calabro, F., Sansoni, M., Abrignani, M. G., Bonura, F., Benvenuto, M., Liso, A., Passero, T., Mori, I., Pozzoni, B., Prati, F., Finocchiaro, M. L., Tufano, N., Miserrafiti, B., Lacquaniti, V., Del Piccolo, F., Mohamad, B., Spinnler, M. T., Bovolo, V., Rebulla, E., Pieri, M., Paloscia, L., Di Clemente, D., Mazzucco, G., Micanti, A., Peci, P., Ornago, O., Proietti, F., Michisanti, M., Reverzani, A., Donatini, A., Costa, P., Russo, S., Franceschini Grisolia, E., Mario, L., Di Palma, F., Dell'Aquila, F., Maestroni, A., Caico, S. I., De Caro, G., Attianese, L., Perotti, S., Cotti Cometti, V., Astengo, D., Guerri, E., Cianflone, D., Maranta, F., Esposito, N., Malvezzi Caracciolo D'Aquino, M., Caliendo, L., Ricci, C., Ceruso, C. P., Lanteri, S., Serdoz, R., Bruno, E., De Matteis, C., Campagnuolo, C., Ammirati, M. A., Corrado, V. M., Amado Eleas, M. A., Fattore, L., Ippoliti, C., Turiano, G., Piergentili, C., Chiarella, F., Capogrosso, P., Perotti, M., Di Marco, S., Sibilio, G., Di Lorenzo, L., Aurelio, A., Ramondo, A. B., Zanna, D., Cernetti, C., Napolitano, G., Negroni, S., Alessandri, N., Rigo, F., Giusti, F., Casu, G., Vicentini, A., Calculli, G., Fera, M. S., Lettica, G. V., Vagheggini, G., Piti, A., Porfidia, A., Di Leo, A., Ravera, A., Ciotta, E., Sacca, S., Silvestri, O., Isidori, S., Natali, P., Anselmi, M., Testa, L., Antonelli, A., Tavasci, E., Furgi, G., Lavorgna, A., Gasparetto, N., Bisceglia, T., Raziliop, A., and Raino, R.

Subjects
Male, Multivariate analysis, Time Factors, medicine.medical_treatment, Myocardial Infarction, 030204 cardiovascular system & hematology, 0302 clinical medicine, Cardiologists, post‐MI, 030212 general & internal medicine, Myocardial infarction, Prospective Studies, Registries, intervention, risk, Dual Anti-Platelet Therapy, focused update, ticagrelor keywords plus:coronary-artery-disease, Atrial fibrillation, General Medicine, clopidogrel, dual antiplatelet therapy, percutaneous coronary intervention, post-mi, secondary prevention, dapt score, duration, management, Middle Aged, Clopidogrel, Treatment Outcome, Female, Cardiology and Cardiovascular Medicine, Ticagrelor, Human, medicine.drug, medicine.medical_specialty, animal structures, Time Factor, Clinical Investigations, Cardiologist, Drug Administration Schedule, Follow-Up Studie, ticagrelor, 03 medical and health sciences, Internal medicine, medicine, Humans, cardiovascular diseases, Aged, Aspirin, post-MI, Follow-Up Studies, Platelet Aggregation Inhibitors, Patient Selection, business.industry, Platelet Aggregation Inhibitor, Percutaneous coronary intervention, medicine.disease, Prospective Studie, Conventional PCI, Observational study, business
Abstract

Background Current guidelines suggest to consider dual antiplatelet therapy (DAPT) continuation for longer than 12 months in selected patients with myocardial infarction (MI). Hypothesis We sought to assess the criteria used by cardiologists in daily practice to select patients with a history of MI eligible for DAPT continuation beyond 1 year. Methods We analyzed data from the EYESHOT Post-MI, a prospective, observational, nationwide study aimed to evaluate the management of patients presenting to cardiologists 1 to 3 years from the last MI event. Results Out of the 1633 post-MI patients enrolled in the study between March and December 2017, 557 (34.1%) were on DAPT at the time of enrolment, and 450 (27.6%) were prescribed DAPT after cardiologist assessment. At multivariate analyses, a percutaneous coronary intervention (PCI) with multiple stents and the presence of peripheral artery disease (PAD) resulted as independent predictors of DAPT continuation, while atrial fibrillation was the only independent predictor of DAPT interruption for patients both at the second and the third year from MI at enrolment and the time of discharge/end of the visit. Conclusions Risk scores recommended by current guidelines for guiding decisions on DAPT duration are underused and misused in clinical practice. A PCI with multiple stents and a history of PAD resulted as the clinical variables more frequently associated with DAPT continuation beyond 1 year from the index MI.

Published
2019

22. Assessing the Impact of Lean Healthcare on Inpatient Care: A Systematic Review

Author

Zepeda-Lugo, C, Tlapa, D, Baez-Lopez, Y, Limon-Romero, J, Ontiveros, S, Perez-Sanchez, A, Tortorella, G, Zepeda-Lugo, C, Tlapa, D, Baez-Lopez, Y, Limon-Romero, J, Ontiveros, S, Perez-Sanchez, A, and Tortorella, G

Abstract

Healthcare services are facing challenges in increasing their efficiency, quality of care, and coping with surges in demand. To this end, some hospitals have implemented lean healthcare. The aim of this systematic review is to evaluate the effects of lean healthcare (LH) interventions on inpatient care and determine whether patient flow and efficiency outcomes improve. The review was performed according to PRISMA. We used six databases to search for studies published from 2002 to 2019. Out of 5732 studies, 39 measuring one or more defined outcomes were included. Hospital length of stay (LOS) was measured in 23 studies, 16 of which reported a reduction, turnover time (TOT) decreased in six out of eight studies, while the turnaround time (TAT) and on-time starts (OTS) improved in all five and seven studies, respectively. Moreover, eight out of nine studies reported an earlier discharge time, and the boarding time decreased in all four cases. Meanwhile, the readmission rate did not increase in all nine studies. Lastly, staff and patient satisfaction improved in all eight studies. Our findings show that by focusing on reducing non-value-added activities, LH contributed to improving patient flow and efficiency within inpatient care.

Published
2020

25. Bleeding risk prediction in elderly patients managed invasively for Acute Coronary Syndromes: external validation of the PRECISE-DAPT and PARIS risk scores

Author

Montalto, C, primary, Crimi, G, additional, Morici, N, additional, Piatti, L, additional, Grosseto, D, additional, Sganzerla, P, additional, Tortorella, G, additional, De Rosa, R, additional, De Luca, L, additional, De Luca, G, additional, Palmerini, T, additional, Valgimigli, M, additional, Savonitto, S, additional, and De Servi, S, additional

Published
2020
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26. Therapeutic impact of regional lymphadenectomy in canine stage II cutaneous mast cell tumors

Author

Marconato L, Polton G, Stefanello D, Morello E, Henriques J, Tortorella G, Vasconi ME, Sabattini S., and Marconato L, Polton G, Stefanello D, Morello E, Henriques J, Tortorella G, Vasconi ME, Sabattini S.

Subjects
mast cell tumor, dog, lymphadenectomy, stage II, prognosis
Abstract

Lymph node (LN) metastasis in canine cutaneous mast cell tumours (cMCTs) is a well-known negative prognostic factor. The role of lymphadenectomy in the treatment of stage II disease remains controversial because of its uncertain therapeutic benefit. Aim of this retrospective study was to investigate the impact of lymphadenectomy on tumour control and survival for dogs with stage II cMCTs. Dogs with firstly occurring, histologically confirmed cMCT with LN metastasis undergoing resection of the primary tumour and medical treatment thereafter were retrospectively enrolled. Dogs were classified into two groups: LN sampling (LNS; diagnosis of metastasis obtained by cytology) and regional LN dissection (LND; diagnosis obtained by histopathology). To determine the therapeutic value of lymphadenectomy, the characteristics of recurrence (local, nodal and distant) and survival were compared between groups. Evaluated outcome variables included signalment, anatomic location, diameter, ulceration, substage, surgical margins, Patnaik grading, Kiupel grading and medical treatment. Overall, 152 dogs were included: 81 underwent LND as part of primary surgery and 71 LNS. The median follow-up time was 409 days for LND group and 620 days for LNS group. On univariable analysis, the risk of developing local, nodal or distant relapse was significantly higher in the LNS group compared with LND (P < 0.001). On multivariable analysis, the risk of tumour progression and tumour-related death were 5.47 and 3.61 times higher in the LNS group, respectively (P < 0.001). Regional lymphadenectomy may have therapeutic value and improve prognosis in dogs with stage II cMCTs undergoing surgical removal of the primary tumour and medical treatment.

Published
2018

32. 258Use of low-dose prasugrel vs. clopidogrel in elderly patients undergoing complex or non-complex PCI for acute coronary syndromes: insights from the Elderly ACS 2 study

Author

Montalto, C, primary, Crimi, G, additional, Fortuni, F, additional, Mandurino Mirizzi, A, additional, Piatti, L, additional, Morici, N, additional, Tortorella, G, additional, Grosseto, D, additional, Sganzerla, P, additional, Ferrario, M, additional, De Servi, S, additional, and Savonitto, S, additional

Published
2019
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33. PROJECT IMPLEMENTATION OF LEAN MANUFACTURING: A STUDY IN AUTOMOTIVE SUPPLY CHAIN

Author

Marodin, G. A., Frank, A. G., Tortorella, G. L., and Fettermann, D. C.

Subjects
Automobile supply chain, lcsh:T55.4-60.8, Lean production, lcsh:Industrial engineering. Management engineering, emerging economies
Abstract

Despite the fact that lean production (LP) is widely used by companies from a broad number of countries and sectors, to achieve a mature LP project implementation is still considered hard to accomplish and sustain. The fact that LP is highly context dependent is one of the major difficulties that hinder its implementation. The extant knowledge about LP implementation from emerging markets is still murky and substantially lower than from developed countries This paper emphasizes LP in Brazil, one of the emerging economies where there is relatively little knowledge about how companies are implementing LP. The existing literature of LP in this country is rare and focused mainly on case studies with a few selected companies. For that, a survey with 49 firms of the automotive supply chain of Brazil was carried out and data collected was analyzed by means of multivariate techniques.

Published
2015

34. Contemporary antithrombotic strategies in patients with acute coronary syndromes managed without revascularization: insights from the EYESHOT study

Author

De Luca, Leonardo, Leonardi, Sergio, Smecca, Ignazio Maria, Formigli, Dario, Lucci, Donata, Gonzini, Lucio, Tuccillo, Bernardino, Olivari, Zoran, Gulizia, Michele Massimo, Bovenzi, Francesco Maria, De Servi, Stefano, Caporale, R., Cavallini, C., Ceravolo, R., Lupi, A., Musumeci, G., Rakar, S., Maggioni, A. P., Lorimer, A., Orsini, G., Fabbri, Giorgio, Bianchini, E., Abrignani, M. G., Bonura, F., Trimarco, B., Galasso, Giorgia, Misuraca, G., Manes, M. T., Irace, Lorenzo, Totis, O., Ledda, A., Mauro, C., Boccalatte, M., Iliceto, S., Cacciavillani, L., Savonitto, S., Tortorella, G., Esposito, L., DE ROSA, Paolo, Calabrò, P., Bianchi, R., Napoletano, C., Lalla Piccioni, L., Pavesi, P. C., Boni, Allegra, Merenda, R., Wolff, S., De Ferrari, G. M., Camporotondo, R., Gambino, Paolo, Cutaia, A., Picariello, C., Cemin, R., Chiarella, F., Grazioli Gauthier, L., Mircoli, L., Del Pinto, M., Finocchiaro, M. L., Scioli, R., Farina, R., Naddeo, C., Scherillo, M., Santopietro, S., Metra, M., Costa, F., Calculli, G., Troito, G., Pennisi, V., Adornato, E. M. F., Pirelli, S., Fadin, B. M., Di Biase, M., Ieva, R., Zuin, G., Sanfilippo, N., Mancuso, LAURA CATERINA, Pani, Luisa Anna, Serra, Eleonora, Marenzi, G., Assanelli, E. M., Ansalone, G., Cacciotti, L., Morocutti, G., Fresco, C., Berti, S., Paradossi, U., Bozzano, A., Mauro, A., Noussan, P., Zanini, P., Bolognese, L., Falsini, G., Costa, P., Manca, G., Caldarola, P., Locuratolo, N., Cipolla, T., Becchina, M., Cocco, Gabriele, Scalera, G., Stefanelli, S., Giunta, N., Sinagra, G., Meloni, L., Lai, O., Chiaranda, G., Luca, G., Sleiman Helou, J., Biscottini, E., Magliari, F., Callerame, M., Uguccioni, M., Pugliese, M., Sanchez, F., Tartaglione, S., Ignone, G., Mavilio, G., Mantovan, R., Bini, R., Caico, S. I., Demolli, V., Proietti, F., Michisanti, M., Musmeci, G., Cantamessa, P., Sicuso, G., Micalef, S. S., Accogli, M., Zaccaria, MICHELA MARIA, Caputo, M., Di Paolo, G., Piatti, L., Farina, A., Vicinelli, P., Paloscia, L., Di Clemente, D., Felis, S., Castini, D., Rota, C., Casu, Gabriella, Bonano, S., Margheri, M., Ricci Lucchi, G., Serdoz, R., Proietti, P., Autore, C., Conti, E., Russo, V., Orlando, P., Ramondo, A. B., Bontorin, M., Marcolongo, M., Marrara, F., Maestroni, A., Vitti, P., Rodella, P., Bonetti, P., Elia, M., Lumare, R., Politi, A., Gritti, S., Poletti, F., Mafrici, A., Fusco, R., Bongo, A. S., Bacchini, S., Gasparetto, V., Ferraiuolo, G., Campana, C., Bonatti, R., Gaita, F., Bergerone, S., Bonmassari, R., Zeni, P., Langialonga, T., Scarcia, A., Caravita, L., Musacchio, E., Augello, G., Usmiani, T., Stomaci, B., Cirino, D., Pierini, S., Bottiglieri, G., Liso, A., Mussardo, M., Tosi, P., Sala, R., Belloni, A., Blengino, S., Lisi, E., Delfino, P., Auguadro, C., Brunazzi, M. C., Pacchioni, E., Fattore, L., Bosco, B., Blandizzi, S., Pajes, G., Patruno, N., Perna, G. P., Francioni, M., Favale, S., Vestito, D., Lombardi, A., Capecchi, A., Ferrero, P., De Vincenzo, C., Magri, G., Indolfi, C., De Rosa, S., Rossi, M., Collarini, L., Agnelli, D., Conti, G., Tonelli, C., Spadaro, C., Negroni, S., Di Noto, G., Lanari, A., Casolo, G., Del Meglio, J., Negrini, M., Celentano, A., Sifola, C., Rellini, G., Della Mattia, A., Molero, U., Piovaccari, G., Grosseto, D., Callegarin, L., Fiasconaro, G., Crivello, R., Thiebat, B., Leone, G., Tamburino, C., Caruso, G., Cassadonte, F., Sassone, B., Fuca, G., Sormani, L., Percoco, G. F., Mazzucco, R., Cazzani, E., Gianni, M., Limido, A., Luvini, M., Guglielmi, R., Mannarini, A., Moruzzi, P., Pastori, P., Golia, B., Marzano, A., Orazi, S., Marchese, I., Anselmi, M., Girardi, P., Nassiacos, D., Meloni, S., Busacca, P., Generali, C. A., Corda, S., Costanza, G., Montalto, S., Argenziano, L., Tommasini, P., Emdin, M., Pasanisi, E. M., Colivicchi, F., Tubaro, M., Azzolini, P., Luciani, C., Doronzo, B., Coppolino, A., Dellavesa, P., Zenone, F., Di Marco, A., De Conti, F., Piccinni, G. C., Gualtieri, M. R., Bisignani, G., Leone, A., Arcuri, G. M., Marinacci, L., Rossi, P., Perotti, S., Cotti Cometti, V., Arcidiacono, S., Tramontana, M., Bazzucchi, M., Mezzetti, P., Romano, M., Villani, R., Di Giovambattista, R., Volpe, B., Tedesco, L., Carini, M., Vinci, S., Paolini, E. A., Busoni, F., Piergentili, C., Navazio, A., Manca, F., Cocco, F., Pennetta, C. A., Maggiolini, S., Galbiati, R., Bruna, C., Ferrero, L., Brigido, S., Barducci, E., Musacchio, D., Manduca, B., Marchese, D., Patrassi, L. A., Pattarino, F. A., Rocchi, M., Briglia, S., Fanelli, R., Villella, M., Gronda, E., Massa, D., Lenti, V., Di Gregorio, L., Bottero, M., Bazzanini, F., Braggion, G., Antoniceli, R., Caraceni, D., Guzzo, V., Di Giovanni, P., Scarpini, S., Severgnini, B., Musolino, M. F., Della Casa, S., Gobbi, M., Arena, G., Bonizzato, S., Agnoletto, V., Sansoni, S., Pes, R. A. M., Denti, S., Polizzi, G. M., Pino, R., Commisso, B., Merlino, A., Di Lorenzo, L., Porchetta, I., Del Furia, F., Colombi, E., Covini, D., Cavalieri, F., Antonaci, S., Rubino, G., Ciulla, A., Bui, F., Casorelli, E., Caliendo, L., Laezza, A., Americo, L., Schillaci, A. M., Cordoni, M., Barsotti, L., Gaudio, C., Barilla, F., Cannone, M., Memeo, R., Truncellito, L., Andriani, A., Salituri, S., Verrina, F., Pafi, M., Sebastiani, M. L., Amico, A. F., Scolozzi, D., D'Alea, A., Catanzariti, D., Angheben, C., Ottaviano, A., and Levantesi, G.

Subjects
Male, Ticagrelor, medicine.medical_specialty, Acute coronary syndrome, medicine.medical_treatment, Conservative strategy, Population, Acute coronary syndromes, Revascularization, acute coronary syndromes, anticoagulant, antithrombotic therapy, conservative strategy, prasugrel, ticagrelor, aged, coronary care units, female, fibrinolytic agents, follow-up studies, hospital mortality, humans, iItaly, length of stay, male, myocardial revascularization, retrospective studies, survival rate, thrombolytic therapy, practice guidelines as topic, Fibrinolytic Agents, Anticoagulant, Antithrombotic therapy, Prasugrel, Acute Coronary Syndrome, Aged, Coronary Care Units, Female, Follow-Up Studies, Hospital Mortality, Humans, Italy, Length of Stay, Myocardial Revascularization, Retrospective Studies, Survival Rate, Thrombolytic Therapy, Practice Guidelines as Topic, Cardiology and Cardiovascular Medicine, Pharmacology (medical), Internal medicine, Antithrombotic, medicine, education, Survival rate, education.field_of_study, business.industry, Clopidogrel, medicine.disease, Cardiology, business, Fibrinolytic agent, medicine.drug
Abstract

Aims Patients with acute coronary syndromes (ACSs) who are managed without coronary revascularization represent a mixed and understudied population that seems to receive suboptimal pharmacological treatment. Methods and results We assessed patterns of antithrombotic therapies employed during the hospitalization and in-hospital clinical events of medically managed patients with ACS enrolled in the prospective, multicentre, nationwide EYESHOT (EmploYEd antithrombotic therapies in patients with acute coronary Syndromes HOspitalized in iTalian cardiac care units) registry. Among the 2585 consecutive ACS patients enrolled in EYESHOT, 783 (30.3%) did not receive any revascularization during hospital admission. Of these, 478 (61.0%) underwent coronary angiography (CA), whereas 305 (39.0%) did not. The median GRACE and CRUSADE risk scores were significantly higher among patients who did not undergo CA compared with those who did (180 vs. 145, P < 0.0001 and 50 vs. 33, P < 0.0001, respectively). Antithrombotic therapies employed during hospitalization significantly differ between patients who received CA and those who did not with unfractioned heparin and novel P2Y12 inhibitors more frequently used in the first group, and low-molecular-weight heparins and clopidogrel in the latter group. During the index hospitalization, patients who did not receive CA presented a higher incidence of ischaemic cerebrovascular events and of mortality compared with those who underwent CA (1.6 vs. 0.2%, P = 0.04 and 7.9 vs. 2.7%, P = 0.0009, respectively). Conclusion Almost one-third of ACS patients are managed without revascularization during the index hospitalization. In this population, a lower use of recommended antiplatelet therapy and worse clinical outcome were observed in those who did not undergo CA when compared with those who did. Clinical Trial Registration Unique identifier: [NCT02015624][1], . [10.1093/ehjcvp/pvv017][2] [1]: /lookup/external-ref?link_type=CLINTRIALGOV&access_num=NCT02015624&atom=%2Fehjcardpharm%2F1%2F3%2F168.atom [2]: /lookup/doi/10.1093/ehjcvp/pvv017

Published
2015
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35. Antithrombotic strategies in the catheterization laboratory for patients with acute coronary syndromes undergoing percutaneous coronary interventions: insights from the EmploYEd antithrombotic therapies in patients with acute coronary Syndromes HOspitalized in iTalian cardiac care units Registry

Author

De Luca, L., Musumeci, G., Leonardi, S., Gonzini, L., Cavallini, C., Calabro, P., Mauro, C., Cacciavillani, L., Savonitto, S., De Servi, S., Caporale, R., Ceravolo, R., Formigli, D., Lupi, A., Rakar, S., Smecca, I. M., Maggioni, A. P., Lucci, D., Lorimer, A., Orsini, G., Fabbri, G., Bianchini, E., Abrignani, M. G., Bonura, F., Trimarco, B., Galasso, G., Misuraca, G., Manes, M. T., Tuccillo, B., Irace, L., Olivari, Z., Totis, O., Ledda, A., Boccalatte, M., Iliceto, S., Tortorella, G., Esposito, L., De Rosa, P., Bianchi, R., Napoletano, C., Piccioni, L. L., Pavesi, P. C., Bovenzi, F. M., Boni, A., Merenda, R., Wolff, S., De Ferrari, G. M., Camporotondo, R., Gambino, P., Cutaia, A., Picariello, C., Cemin, R., Chiarella, F., Gauthier, L. G., Mircoli, L., Del Pinto, M., Finocchiaro, M. L., Scioli, R., Farina, R., Naddeo, C., Scherillo, M., Santopietro, S., Metra, M., Costa, F., Calculli, G., Troito, G., Pennisi, V., Adornato, E. M. F., Pirelli, S., Fadin, B. M., DI Biase, M., Ieva, R., Zuin, G., Sanfilippo, N., Mancuso, L., Pani, A., Serra, E., Marenzi, G., Assanelli, E. M., Ansalone, G., Cacciotti, L., Morocutti, G., Fresco, C., Berti, S., Paradossi, U., Bozzano, A., Mauro, A., Noussan, P., Zanini, P., Bolognese, L., Falsini, G., Costa, P., Manca, G., Caldarola, P., Locuratolo, N., Cipolla, T., Becchina, M., Cocco, G., Scalera, G., Stefanelli, S., Giunta, N., Sinagra, G., Meloni, L., Lai, O., Chiaranda, G., Luca, G., Helou, J. S., Biscottini, E., Magliari, F., Callerame, M., Uguccioni, M., Pugliese, M., Sanchez, F., Tartaglione, S., Ignone, G., Mavilio, G., Mantovan, R., Bini, R., Caico, S. I., Demolli, V., Proietti, F., Michisanti, M., Musmeci, G., Cantamessa, P., Sicuso, G., Micalef, S. S., Accogli, M., Zaccaria, M., Caputo, M., DI Paolo, G., Piatti, L., Farina, A., Vicinelli, P., Paloscia, L., DI Clemente, D., Felis, S., Castini, D., Rota, C., Casu, G., Bonano, S., Margheri, M., Lucchi, G. R., Serdoz, R., Proietti, P., Autore, C., Conti, E., Russo, V., Orlando, P., Ramondo, A. B., Bontorin, M., Marcolongo, M., Santagostino, M., Maestroni, A., Vitti, P., Rodella, P., Bonetti, P., Elia, M., Lumare, R., Politi, A., Gritti, S., Poletti, F., Mafrici, A., Fusco, R., Bongo, A. S., Bacchini, S., Gasparetto, V., Ferraiuolo, G., De Luca, M., Campana, C., Bonatti, R., Gaita, F., Bergerone, S., Bonmassari, R., Zeni, P., Langialonga, T., Scarcia, A., Caravita, L., Musacchio, E., Augello, G., Usmiani, T., Stomaci, B., Cirino, D., Pierini, S., Bottiglieri, G., Liso, A., Mussardo, M., Tosi, P., Sala, R., Belloni, A., Blengino, S., Lisi, E., Delfino, P., Auguadro, C., Brunazzi, M. C., Pacchioni, E., Fattore, L., Bosco, B., Blandizzi, S., Pajes, G., Patruno, N., Perna, G. P., Francioni, M., Favale, S., Vestito, D., Lombardi, A., Capecchi, A., Ferrero, P., De Vincenzo, C., Magri, G., Indolfi, C., De Rosa, S., Rossi, M., Collarini, L., Agnelli, D., Conti, G., Tonelli, C., Spadaro, C., Negroni, S., DI Noto, G., Lanari, A., Casolo, G., Del Meglio, J., Negrini, M., Celentano, A., Sifola, C., Rellini, G., Mattia, A. D., Molero, U., Piovaccari, G., Grosseto, D., Callegarin, L., Fiasconaro, G., Crivello, R., Thiebat, B., Leone, G., Tamburino, C., Caruso, G., Cassadonte, F., Sassone, B., Fuca, G., Sormani, L., Percoco, G. F., Mazzucco, R., Cazzani, E., Gianni, M., Limido, A., Luvini, M., Guglielmi, R., Mannarini, A., Moruzzi, P., Pastori, P., Golia, B., Marzano, A., Orazi, S., Marchese, I., Anselmi, M., Girardi, P., Nassiacos, D., Meloni, S., Busacca, P., Generali, C. A., Corda, S., Costanza, G., Montalto, S., Argenziano, L., Tommasini, P., Emdin, M., Pasanisi, E. M., Colivicchi, F., Tubaro, M., Azzolini, P., Luciani, C., Doronzo, B., Coppolino, A., Dellavesa, P., Zenone, F., DI Marco, A., De Conti, F., Piccinni, G. C., Gualtieri, M. R., Bisignani, G., Leone, A., Arcuri, G. M., Marinacci, L., Rossi, P., Perotti, S., Cometti, V. C., Arcidiacono, S., Tramontana, M., Bazzucchi, M., Mezzetti, P., Romano, M., Villani, R., DI Giovambattista, R., Volpe, B., Tedesco, L., Carini, M., Vinci, S., Paolini, E. A., Busoni, F., Piergentili, C., Navazio, A., Manca, F., Cocco, F., Pennetta, C. A., Maggiolini, S., Galbiati, R., Bruna, C., Ferrero, L., Brigido, S., Barducci, E., Musacchio, D., Manduca, B., Marchese, D., Patrassi, L. A., Pattarino, F. A., Rocchi, M., Briglia, S., Fanelli, R., Villella, M., Gronda, E., Massa, D., Lenti, V., DI Gregorio, L., Bottero, M., Bazzanini, F., Braggion, G., Antoniceli, R., Caraceni, D., Guzzo, V., DI Giovanni, P., Scarpini, S., Severgnini, B., Musolino, M. F., Casa, S. D., Gobbi, M., Arena, G., Bonizzato, S., Agnoletto, V., Sansoni, S., Pes, R. A. M., Denti, S., Polizzi, G. M., Pino, R., Commisso, B., Merlino, A., DI Lorenzo, L., Porchetta, I., Del Furia, F., Colombi, E., Covini, D., Cavalieri, F., Antonaci, S., Rubino, G., Ciulla, A., Bui, F., Casorelli, E., Caliendo, L., Laezza, A., Americo, L., Schillaci, A. M., Cordoni, M., Barsotti, L., Gaudio, C., Barilla, F., Cannone, M., Memeo, R., Truncellito, L., Andriani, A., Salituri, S., Verrina, F., Pafi, M., Sebastiani, M. L., Amico, A. F., Scolozzi, D., Lupi, G., D'Alea, A., Catanzariti, D., Angheben, C., Ottaviano, A., Levantesi, G., de Luca, Leonardo, Musumeci, Giuseppe, Leonardi, Sergio, Gonzini, Lucio, Cavallini, Claudio, Calabrò, Paolo, Mauro, Ciro, Cacciavillani, Luisa, Savonitto, Stefano, de Servi, Stefano, Caporale, Roberto, Ceravolo, Roberto, Formigli, Dario, Lupi, Alessandro, Rakar, Sadir, Smecca, Ivan, Maggioni, Aldo Pietro, Lucci, Donata, Lorimer, Andrea, Orsini, Giampietro, Fabbri, Gianna, Bianchini, Elisa, Abrignani, Maurizio Giuseppe, Bonura, Francesc, Trimarco, Bruno, Galasso, Gennaro, Misuraca, Gianfranco, Manes, Maria Teresa, Tuccillo, Bernardino, and Irace, Luigi.

Subjects
Male, Prasugrel, medicine.medical_treatment, Myocardial Infarction, antithrombotic therapy, 030204 cardiovascular system & hematology, acute coronary syndromes, bivalirudin, heparins, percutaneous coronary intervention, prasugrel, ticagrelor, 0302 clinical medicine, Antithrombotic, 80 and over, Bivalirudin, 030212 general & internal medicine, Myocardial infarction, Prospective Studies, Registries, Aged, 80 and over, General Medicine, Hirudins, Middle Aged, Recombinant Proteins, Italy, Female, Cardiology and Cardiovascular Medicine, Ticagrelor, medicine.drug, medicine.medical_specialty, Platelet Glycoprotein GPIIb-IIIa Complex, NO, 03 medical and health sciences, Percutaneous Coronary Intervention, Internal medicine, medicine, Humans, Acute Coronary Syndrome, Aged, Aspirin, business.industry, Heparin, Percutaneous coronary intervention, Anticoagulants, medicine.disease, Peptide Fragments, Clinical trial, Cross-Sectional Studies, Logistic Models, Conventional PCI, Multivariate Analysis, business
Abstract

Aims In the last decades, several new therapies have emerged for the treatment of acute coronary syndromes (ACS). We sought to describe real-world patterns of use of antithrombotic treatments in the catheterization laboratory for ACS patients undergoing percutaneous coronary interventions (PCI). Methods EmploYEd antithrombotic therapies in patients with acute coronary Syndromes HOspitalized in iTalian cardiac care units was a nationwide, prospective registry aimed to evaluate antithrombotic strategies employed in ACS patients in Italy. Results Over a 3-week period, a total of 2585 consecutive ACS patients have been enrolled in 203 cardiac care units across Italy. Among these patients, 1755 underwent PCI (923 with ST-elevation myocardial infarction and 832 with non-ST-elevation ACS). In the catheterization laboratory, unfractioned heparin was the most used antithrombotic drug in both ST-elevation myocardial infarction (64.7%) and non-ST-elevation ACS (77.5%) undergoing PCI and, as aspirin, bivalirudin and glycoprotein IIb/IIIa inhibitors (GPIs) more frequently employed before or during PCI compared with the postprocedural period. Any crossover of heparin therapy occurred in 36.0% of cases, whereas switching from one P2Y12 inhibitor to another occurred in 3.7% of patients. Multivariable analysis yielded several independent predictors of GPIs and of bivalirudin use in the catheterization laboratory, mainly related to clinical presentation, PCI complexity and presence of complications during the procedure. Conclusion In our contemporary, nationwide, all-comers cohort of ACS patients undergoing PCI, antithrombotic therapies were commonly initiated before the catheterization laboratory. In the periprocedural period, the most frequently employed drugs were unfractioned heparin, leading to a high rate of crossover, followed by GPIs and bivalirudin, mainly used during complex PCI. Clinical trial registration URL: http://www.clinicaltrials.gov. Unique identifier: NCT02015624.

Published
2017

38. Satisfaction with antiepileptic drugs in children and adolescents with newly diagnosed and chronic epilepsy

Author

Beghi, E, Messina, P, Pupillo, E, Crichiutti, G, Baglietto, Mg, Veggiotti, P, Zamponi, N, Casellato, S, Margari, L, Cianchetti, C, Collaborators: Giussani G, TASCA Study G. r. o. u. p., Lanzarotti, C, Mattana, F, Assalone, C, Vari, Ms, Prato, G, Brustia, F, Lunghi, S, Olivotto, S, Cesaroni, E, Cappanera, S, Simula, D, Chillotti, I, Pisano, T, Pruna, D, Lucarelli, E, Bonanni, P, Micoli, B, Ferrari, Ar, Valvo, G, Parmeggiani, A, Tedde, Mr, Conti, S, Tortorella, G, Briguglio, M, Coppola, G, D'Aniello, A, Capovilla, G, Beccaria, F, Cagdas, S, Besana, D, Rasmini, P, Caldognetto, M, Martini, A, Romeo, A, Viri, M, Lodi, M, Gobbi, G, Boni, A, Germano, M, Tiberti, A, Battaglia, S, Micheli, R, Galli, J, Capizzi, Giorgio, Pieri, I., E. Beghi, P. Messina, E. Pupillo, G. Crichiutti, M.G. Baglietto, P. Veggiotti, N. Zamponi, S. Casellato, L. Margari, C. Cianchetti, the TASCA study group [.., A. Parmeggiani, and ]

Subjects
Male, Adverse event, medicine.medical_specialty, Pediatrics, Adolescent, Disease, Newly diagnosed, Epilepsy, antiepileptic drug, Quality of life, Humans, Medicine, Prospective Studies, Child, Psychiatry, Adverse effect, business.industry, Incidence (epidemiology), Age Factors, Adverse events, Drug acceptability, quality of life, medicine.disease, Chronic epilepsy, Adverse events, Quality of life, Drug acceptability, childhood and adolescence, Treatment Outcome, Neurology, Patient Satisfaction, Child, Preschool, Chronic Disease, epilepsy, Anticonvulsants, Female, Observational study, Neurology (clinical), business, Follow-Up Studies
Abstract

PURPOSE: To assess incidence, indicators and outcome of satisfaction with antiepileptic drugs in children. METHODS: Multicenter, observational, open, prospective survey of children and adolescents with epilepsy with three-month follow-up. Included were patients aged 3-17 years with newly diagnosed ("new diagnosis") or chronic epilepsy ("old diagnosis") requiring treatment start or change. Satisfaction was assessed with the Hedonic Visual Scale or direct questions, depending on patient's age. Quality of life of adolescents (QOLIE-48) and of caregivers (SF-36) and predictors of (dis)satisfaction were also assessed. RESULTS: 293 patients completed the study. Most had generalized idiopathic epilepsy, and a disease lasting

Published
2012
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40. VO2Max and VO2AT: athletic performance and field role of elite soccer players

Author

Manari, D., Manara, M., Zurini, A., Tortorella, G., Vaccarezza, Mauro, Prandelli, N., Ancelotti, D., Vitale, M., Mirandola, P., Galli, D., Manari, D., Manara, M., Zurini, A., Tortorella, G., Vaccarezza, Mauro, Prandelli, N., Ancelotti, D., Vitale, M., Mirandola, P., and Galli, D.

Abstract

Purpose: Maximal oxygen consumption (VO2max) and oxygen consumption at anaerobic threshold (VO2AT) are commonly measured parameters to test elite soccer players; however, studies relating metabolic parameters of professional soccer players with performance and best fitting to the field role are scarce. Our aim was to study the relations of VO2max and VO2AT with the field role of elite soccer players to generate a robust dataset with a solid statistical analysis. Method: Over a 12-year period we performed 953 field evaluation tests of VO2 max and VO2AT on 450 elite soccer players of 13 professional teams by incremental, continuous and exhausting test modified from Conconi’s test. Statistical analysis was performed by one-way ANOVA followed—when appropriate—by Tukey post hoc test. Effect size was evaluated by the Cohen D test and η partial squared test. Statistical significance was set for p < 0.05. Results: VO2max mean values increased at the beginning of season by 1.073 ± 0.06 respect to pre-season then decreased again up to pre-season levels and remained stable, while VO2AT did not change during time. VO2max differences were also related to players’ field role. VO2max mean value for Goalkeeper was 50.85 ± 4.2, for central Defender was 57.58 ± 4.3, for Winger-sides back was 60.53 ± 5.02, for Midfielder was 59.53 ± 5.08, for Forward was 56.52 ± 4.14. On the contrary, as expected, VO2AT percentage variations among the roles were not significant. Conclusions: VO2max is the choice parameter to consider for the metabolic compliance of athletes to the field role requirements, consequently influencing training programs, recovery and injury prevention strategies.

Published
2016

42. Low impact of cardiovascular adverse events on anagrelide treatment discontinuation in a cohort of 232 patients with essential thrombocythemia

Author

Gugliotta, L, Tieghi, A, Tortorella, G, Scalzulli, Pr, Ciancia, R, Lunghi, M, Cacciola, Emma, Cacciola, Rossella Rosaria, Candoni, A, Crugnola, M, Codeluppi, K, Usala, E, Specchia, G, Martinelli, V, Palmieri, F, Pierri, I, Liberati, M, Iurlo, A, Grossi, A, Vannucchi, Am, Vianelli, N, Mazzucconi, Mg, on behalf of the Registro Italiano Trombocitemai, Gugliotta, L, Tieghi, A, Tortorella, G, Scalzulli, Pr, Ciancia, R, Lunghi, M, Cacciola, E, Cacciola, R, Candoni, A, Crugnola, M, Codeluppi, K, Usala, E, Specchia, G, Martinelli, Vincenzo, Palmieri, F, Pierri, I, Liberati, Am, Iurlo, A, Grossi, A, Vannucchi, Am, Vianelli, N, and Mazzucconi, M. G.

Subjects
Male, Cancer Research, Adolescent, Adult, Aged, Aged, 80 and over, Cardiovascular Diseases, Child, Cohort Studies, Drug-Related Side Effects and Adverse Reactions, Female, Follow-Up Studies, Humans, Middle Aged, Platelet Aggregation Inhibitors, Quinazolines, Retrospective Studies, Thrombocythemia, Essential, Withholding Treatment, Young Adult, Echocardiogram, Essential thrombocythemia, Essential, 80 and over, Palpitations, Medicine, Thrombocythemia, Hematology, Oncology, Anagrelide, Safety, Toxicity, Cardiovascular adverse events, Palpitation, Cohort, Cardiology, medicine.symptom, Cohort study, medicine.drug, medicine.medical_specialty, Internal medicine, Adverse effect, business.industry, Retrospective cohort study, medicine.disease, Discontinuation, business
Abstract

This retrospective study of the thrombocythemia Italian registry (RIT) documented that 71 (30.6%) out of 232 ET patients experienced 88 cardiovascular adverse events (CV-AEs) during anagrelide treatment (522 pt-y). The rate of CV-AEs was: 24.1% for palpitations, 4.3% for angina, 3.5% for arterial hypertension, 3.0% for congestive heart failure, 1.8% for arrhythmia, 0.9% for AMI, 0.4% for pericardial effusion. CV-AEs led to treatment discontinuation in nine (3.9%) patients, while in the remaining cases they were managed by pharmacological intervention and/or patient life style improvement. CV-AEs had no relationship with patient characteristics (including older age). A significant relationship was found only with a higher anagrelide induction dose. In the absence of any agreed protocol, a cardiovascular instrumental evaluation (CV-IE) was performed in 102 (44%) patients before commencement of anagrelide (with higher rate after the anagrelide/Xagrid EMA approval of 2004), and in 84 (36%) patients during treatment. Patients with and without CV-IEs, who resulted completely balanced for all their characteristics, did not significantly differ in the occurrence of CV-AEs. In conclusion, this study on ET patients treated with anagrelide shows that CV-AEs, equally distributed in younger and older subjects, were mostly mild and easily manageable, allowing safe treatment continuation in the majority of cases. Moreover, routinely performing a CV-IE did not appear to anticipate the occurrence of CV-AEs.

Published
2011

43. Expression of Endothelin-1 and Endothelin Receptor A in Canine Ovarian Tumours

Author

Borzacchiello, G, Mogavero, S, Tortorella, G, Catone, Giuseppe, Russo, M., Borzacchiello, Giuseppe, Mogavero, S, Tortorella, G, Catone, G, and Russo, Marco

Subjects
Ovarian Neoplasms, Endothelin-1, growth, Cystadenocarcinoma, carcinoma, Receptor, Endothelin A, Carcinoma, Papillary, Emerging role, axis, carcinoma, growth, cancer, Gene Expression Regulation, Neoplastic, Dogs, Emerging role, axis, Animals, cancer, Female, Dog Diseases, Granulosa Cell Tumor
Abstract

Ovarian tumours have a low incidence in bitch. Endothelin (ET-1) and endothelin A receptor (ET-A) are overexpressed in human ovarian cancer. Twenty canine ovarian tumours and five normal samples were first evaluated by western blotting and then immunohistochemically for ET-1 and ET-A expression. Seventeen out of twenty tumours were ET-1 positive. Eight out of twenty tumours were ET-A immunohistochemically positive. At molecular level both proteins were proven to be expressed in normal as well as in tumour samples. Our results show that ET-1 and ET-A are overexpressed in canine ovarian tumours, suggesting a potential role of these two molecules in canine ovarian carcinogenesis.

Published
2010

47. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy

Author

Annesi, F., Gambardella, A., Michelucci, R., Bianchi, A., Marini, C., Canevini, M. P., Capovilla, G., Elia, M., Buti, D., Chifari, R., Striano, Pasquale, Rocca, F. E., Castellotti, B., Cali, F., Labate, A., Lepiane, E., Besana, D., Sofia, V., Tabiadon, G., Tortorella, G., Vigliano, P., Vignoli, A., Beccaria, F., Annesi, G., Striano, S., Aguglia, U., Guerrini, R., Quattrone, A., Annesi, F, Gambardella, A, Michelucci, R, Bianchi, A, Marini, C, Canevini, Mp, Capovilla, G, Elia, M, Buti, D, Chifari, R, Striano, P, Rocca, Fe, Castellotti, B, Cali, F, Labate, A, Lepiane, E, Besana, D, Sofia, V, Tabiadon, G, Tortorella, G, Vigliano, P, Vignoli, A, Beccaria, F, Annesi, G, Striano, Salvatore, Aguglia, U, Guerrini, R, Quattrone, A., F., Annesi, A., Gambardella, R., Michelucci, A., Bianchi, C., Marini, M. P., Canevini, G., Capovilla, M., Elia, D., Buti, R., Chifari, P., Striano, F. E., Rocca, B., Castellotti, F., Cali, A., Labate, E., Lepiane, D., Besana, V., Sofia, G., Tabiadon, G., Tortorella, P., Vigliano, A., Vignoli, F., Beccaria, G., Annesi, U., Aguglia, R., Guerrini, and A., Quattrone

Subjects
Adult, Male, Adult, Calcium-Binding Protein, European Continental Ancestry Group, DNA Mutational Analysis, Mutation, Missense, Juvenile, White People, genetics, Family, Female, Genetic Heterogeneity, Genetic Testing, Humans, Italy, Adult, Calcium-Binding Proteins, genetics, Chromosome Mapping, DNA Mutational Analysis, European Continental Ancestry Group, epidemiology, Male, Middle Aged, Mutation, Missense, genetics, Mutation, genetics, Myoclonic Epilepsy, epidemiology/ethnology/genetics, Pedigree, Phenotype, Genetic Heterogeneity, Humans, genetics, Family, Genetic Testing, epidemiology/ethnology/genetics, Calcium-Binding Proteins, Myoclonic Epilepsy, Juvenile, Chromosome Mapping, Middle Aged, Pedigree, Phenotype, Myoclonic Epilepsy, Italy, Mutation, epidemiology, Female
Abstract

Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.

Published
2007

48. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Author

Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam GM, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P, Battaglia, S, Fazzi, E, Giordano, L, Pinelli, L, Boccone, L, Barone, R, Sorge, G, Briatore, E, Bigoni, S, Ferlini, A, Donati, Ma, Biancheri, R, Caridi, G, Divizia, Mt, Faravelli, F, Ghiggeri, G, Mirabelli, M, Pessagno, A, Rossi, A, Uliana, V, Amorini, M, Briguglio, M, Briuglia, S, Salpietro, Cd, Tortorella, G, Adami, A, Bonati, Mt, Castorina, P, D'Arrigo, S, Lalatta, F, Marra, G, Moroni, I, Pantaleoni, C, Riva, D, Scelsa, B, Spaccini, L, Del Giudice, E, Ludwig, K, Permunian, A, Suppiej, A, Macaluso, C, Pichiecchio, A, Battini, R, Di Giacomo, M, Priolo, M, Timpani, P, Pagani, G, Di Sabato ML, Emma, F, Leuzzi, V, Mancini, F, Majore, S, Micalizzi, A, Parisi, P, Romani, M, Stringini, G, Zanni, G, Ulgheri, L, Pollazzon, M, Renieri, Alessandra, Belligni, E, Grosso, E, Pieri, I, Silengo, M, Devescovi, R, Greco, D, Romano, C, Cazzagon, M, Simonati, A, Al Tawari AA, Bastaki, L, Mégarbané, A, Sabolic Avramovska, V, Said, E, Stromme, P, Koul, R, Rajab, A, Azam, M, Barbot, C, Salih, Ma, Tabarki, B, Jocic Jakubi, B, Martorell Sampol, L, Rodriguez, B, Pascual Castroviejo, I, Gener, B, Puschmann, A, Starck, L, Capone, A, Lemke, J, Fluss, J, Niedrist, D, Hennekam, Rc, Wolf, N, Gouider Khouja, N, Kraoua, I, Ceylaner, S, Teber, S, Akgul, M, Anlar, B, Comu, S, Kayserili, H, Yüksel, A, Akcakus, M, Caglayan, Ao, Aldemir, O, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Sheridan, E, Barnicoat, A, Hemingway, C, Lees, M, Wakeling, E, Blair, E, Bernes, S, Sanchez, H, Clark, Ae, Demarco, E, Donahue, C, Sherr, E, Hahn, J, Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh, Ca, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Karaca, E, Swoboda, Kj, Viskochil, D, Dobyns, Wb, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, OMÜ, University of Zurich, Valente, Enza Maria, Fluss, Joel Victor, Travaglini, L, Brancati, F, Silhavy, J, Iannicelli, M, Nickerson, E, Elkhartoufi, N, Scott, E, Spencer, E, Gabriel, S, Thomas, S, Ben Zeev, B, Bertini, E, Boltshauser, E, Chaouch, M, Cilio, Mr, de Jong, Mm, Kayserili, H, Ogur, G, Poretti, A, Signorini, S, Uziel, G, Zaki, M, Johnson, C, Atti? Bitach, T, Gleeson, Jg, Valente, Em, International JSRD Study, Group, and DEL GIUDICE, Ennio

Subjects
Male, Ciliata -- Anatomy, Proband, 10039 Institute of Medical Genetics, Meckel syndrome, RPGRIP1L, Syndromes, INPP5E, MODIFIER, Phosphoric Monoester Hydrolases/genetics, Ciliopathies, Polycystic Kidney Diseases/diagnosis/genetics, CILIUM, 0302 clinical medicine, Gene Frequency, Cerebellum, Prenatal Diagnosis, RETINAL DEGENERATION, Prevalence, MECKEL, ciliopathies, Joubert syndrome and related disorders, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Joubert syndrome, Genetics, Polycystic Kidney Diseases, 0303 health sciences, ddc:618, Cerebellar Diseases/diagnosis/genetics, Kidney Diseases, Cystic, Pedigree, 3. Good health, Phenotype, Child, Preschool, Medical genetics, Female, Retinitis Pigmentosa, FORM, Ciliary Motility Disorders, Heterozygote, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Encephalocele/diagnosis/genetics, AHI1, 610 Medicine & health, Biology, Retina, Article, Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome, NO, Ciliary Motility Disorders/diagnosis/genetics, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, REVEALS, medicine, Humans, Abnormalities, Multiple, Amino Acid Sequence, Kidney Diseases, Cystic/diagnosis/genetics, abnormalities, multiple, adolescent, amino acid sequence, cerebellar diseases, cerebellum, child, preschool, ciliary motility disorders, encephalocele, eye abnormalities, female, heterozygote, humans, infant, kidney diseases, cystic, male, molecular sequence data, pedigree, phosphoric monoester hydrolases, polycystic kidney diseases, prenatal diagnosis, prevalence, retina, gene frequency, mutation, phenotype, 030304 developmental biology, Eye Abnormalities/diagnosis/genetics, COACH SYNDROME, Retina/abnormalities, Genetic heterogeneity, Respiration disorders -- Therapy, Infant, medicine.disease, Phosphoric Monoester Hydrolases, INPP5E mutation, 10036 Medical Clinic, Mutation, 030217 neurology & neurosurgery
Abstract

Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain–hindbrain malformation known as the ‘molar tooth sign’. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS foetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus., peer-reviewed

Published
2013

50. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Author

Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian CBCD Study Group, Bertini, E, Dallapiccola, B, Collaborators: Arrigoni F, Valente E. M., Borgatti, R, Romaniello, R, Accorsi, P, Fazzi, E, Giordano, L, Pinelli, L, Biancheri, R, Mirabelli, M, Rossi, A, Briguglio, M, Tortorella, G, Chiapparini, L, D' Arrigo, S, Moroni, I, Pantaleoni, C, Spaccini, L, Uziel, G, D' Amico, A, Del Giudice, E, Pichiecchio, A, Signorini, S, Battini, R, Casarani, M, Colafati, S, Digilio, Mc, Leuzzi, V, Micalizzi, A, Romani, M, Spalice, A, Vitiello, G, Cirillo, Margherita, Simonati, A., Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian, CBCD Study Group, and DEL GIUDICE, Ennio

Subjects
Dandy-Walker malformation, Wisconsin syndrome, 3q deletion, ZIC1-ZIC4 genes, Hemizygosity, 0302 clinical medicine, Dandy–Walker syndrome, Ptosis, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, 030305 genetics & heredity, Zinc Fingers, General Medicine, Single Nucleotide, Penetrance, Phenotype, Child, Preschool, Pair 3, Female, Chromosomes, Human, Pair 3, medicine.symptom, Chromosome Deletion, zic1-zic4 genes, Human, Adult, wisconsin syndrome, dandy-walker malformation, Biology, ZIC1, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Young Adult, Wisconsin, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Polymorphism, Preschool, Genetic Association Studies, Research, medicine.disease, Blepharophimosis, Human genetics, Face, Dandy-Walker Syndrome, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

Published
2013

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