22 results on '"Tortorella G"'
Search Results
2. Lean production, information and communication technologies and operational performance
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Marodin, G, Chiappetta Jabbour, CJ, Godinho Filho, M, Luz Tortorella, G, Marodin, G, Chiappetta Jabbour, CJ, Godinho Filho, M, and Luz Tortorella, G
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- 2023
3. Effect of Industry 4.0 on the relationship between socio-technical practices and workers' performance
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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.
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- 2023
4. Effects of Lean Interventions Supported by Digital Technologies on Healthcare Services: A Systematic Review
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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.
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- 2022
5. Statistical Modelling for Simulating and Interpreting an Egg Packaging Process for Giveaway Mitigation
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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.
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- 2022
6. Outcomes of Elderly Patients with ST-Elevation or Non-ST-Elevation Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention
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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
7. Outcomes of Elderly Patients with ST-Elevation or Non-ST-Elevation Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention
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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.
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- 2019
8. Paper-based thesis and dissertations: analysis of fundamental characteristics for achieving a robust structure
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Kubota, FI, Cauchick-Migue, PA, Tortorella, G, Amorim, M, Kubota, FI, Cauchick-Migue, PA, Tortorella, G, and Amorim, M
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- 2021
9. Australian manufacturing industry: a 20-year scoping study on barriers, opportunities and trends for its strategic development
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Tortorella, G, Li, W, Staines, J, Vassolo, R, Tortorella, G, Li, W, Staines, J, and Vassolo, R
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- 2021
10. Hospital Investment Decisions in Healthcare 4.0 Technologies: Scoping Review and Framework for Exploring Challenges, Trends, and Research Directions
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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
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- 2021
11. Assessing the Impact of Lean Healthcare on Inpatient Care: A Systematic Review
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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.
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- 2020
12. VO2Max and VO2AT: athletic performance and field role of elite soccer players
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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.
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- 2016
13. Palpitations And Arrhythmia In 3649 High-Risk Patients With Essential Thrombocythemia : Results From The Prospective Long-Term Observational Exels Study
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Gugliotta, L., Tortorella, G., Besses, C., Griesshammer, M., Harrison, C., Kiladjian, J. J., Wu, J., Achenbach, H., Marelli, C., Birgegård, Gunnar, Gugliotta, L., Tortorella, G., Besses, C., Griesshammer, M., Harrison, C., Kiladjian, J. J., Wu, J., Achenbach, H., Marelli, C., and Birgegård, Gunnar
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- 2016
14. Cognitive decline in Dravet syndrome: is there a cerebellar role?
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Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, E, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Chieffo, D, Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, E, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), and Chieffo, D
- Abstract
The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern.
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- 2013
15. Cognitive decline in Dravet syndrome: is there a cerebellar role?
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Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, Eugenio Maria, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Chieffo, D, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, Eugenio Maria, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Chieffo, D, and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)
- Abstract
The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern.
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- 2013
16. Cognitive decline in Dravet syndrome: is there a cerebellar role?
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Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, E, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Chieffo, D, Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Siracusano, R, Waure, Cd, Brogna, C, Ranalli, D, Contaldo, I, Tortorella, G, Dravet, C, Mercuri, E, Guzzetta, F., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), and Chieffo, D
- Abstract
The aim of the study was to perform a detailed assessment of cognitive abilities and behaviour in a series of epileptic patients with Dravet syndrome (DS) in order to establish a possible cerebellar-like pattern.
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- 2013
17. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
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Marini, C, Conti, V, Mei, D, Battaglia, Domenica Immacolata, Lettori, D, Losito, E, Bruccini, G, Tortorella, G, Guerrini, R., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Marini, C, Conti, V, Mei, D, Battaglia, Domenica Immacolata, Lettori, D, Losito, E, Bruccini, G, Tortorella, G, Guerrini, R., and Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
- Abstract
OBJECTIVE: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms. METHODS: We carried out a clinical and genealogic study of a 3-generation family and of 32 additional probands with BFIS (11 families), infantile convulsions and paroxysmal choreoathetosis (ICCA) (9 families), BFIS/generalized epilepsy with febrile seizures plus (5 families), and sporadic benign neonatal or infantile seizures (7 probands/families). We performed a genetic study consisting of linkage analysis and PRRT2 screening of the 33 probands/families. RESULTS: We obtained a positive linkage in the 16p11.3-q23.1 chromosomal region in the large BFIS family. Mutation analysis of PRRT2 gene revealed a c.649dupC (p.Arg217Profs*8) in all affected individuals. PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands. Overall we found PRRT2 mutations in 11 probands with a mutation rate of 11 out of 33 (33%). BFIS co-occurred with migraine and febrile seizures in 2 families, with childhood absence epilepsy in one family and with hemiplegic migraine in one family. CONCLUSION: Our results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include febrile seizures, childhood absence seizures, migraine, and hemiplegic migraine.
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- 2012
18. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
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Marini, C, Conti, V, Mei, D, Battaglia, Domenica Immacolata, Lettori, D, Losito, E, Bruccini, G, Tortorella, G, Guerrini, R., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Marini, C, Conti, V, Mei, D, Battaglia, Domenica Immacolata, Lettori, D, Losito, E, Bruccini, G, Tortorella, G, Guerrini, R., and Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
- Abstract
OBJECTIVE: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms. METHODS: We carried out a clinical and genealogic study of a 3-generation family and of 32 additional probands with BFIS (11 families), infantile convulsions and paroxysmal choreoathetosis (ICCA) (9 families), BFIS/generalized epilepsy with febrile seizures plus (5 families), and sporadic benign neonatal or infantile seizures (7 probands/families). We performed a genetic study consisting of linkage analysis and PRRT2 screening of the 33 probands/families. RESULTS: We obtained a positive linkage in the 16p11.3-q23.1 chromosomal region in the large BFIS family. Mutation analysis of PRRT2 gene revealed a c.649dupC (p.Arg217Profs*8) in all affected individuals. PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands. Overall we found PRRT2 mutations in 11 probands with a mutation rate of 11 out of 33 (33%). BFIS co-occurred with migraine and febrile seizures in 2 families, with childhood absence epilepsy in one family and with hemiplegic migraine in one family. CONCLUSION: Our results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include febrile seizures, childhood absence seizures, migraine, and hemiplegic migraine.
- Published
- 2012
19. Congenital muscular dystrophies with cognitive impairment. A population study
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Messina, Salvatore, Bruno, Cristina, Moroni, I, Pegoraro, E, D'Amico, Anna, Biancheri, R, Berardinelli, A, Boffi, Pietro, Cassandrini, D, Farina, Luigi Maria, Minetti, C, Moggio, M, Mongini, T, Mottarelli, E, Pane, Marika, Pantaleoni, C, Pichiecchio, A, Pini, A, Ricci, Enzo, Saredi, S, Sframeli, M, Tortorella, G, Toscano, A, Trevisan, Cp, Uggetti, C, Vasco, Gessica, Comi, Gp, Santorelli, Fm, Bertini, Enrico Silvio, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Ricci, Enzo (ORCID:0000-0003-3092-3597), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Messina, Salvatore, Bruno, Cristina, Moroni, I, Pegoraro, E, D'Amico, Anna, Biancheri, R, Berardinelli, A, Boffi, Pietro, Cassandrini, D, Farina, Luigi Maria, Minetti, C, Moggio, M, Mongini, T, Mottarelli, E, Pane, Marika, Pantaleoni, C, Pichiecchio, A, Pini, A, Ricci, Enzo, Saredi, S, Sframeli, M, Tortorella, G, Toscano, A, Trevisan, Cp, Uggetti, C, Vasco, Gessica, Comi, Gp, Santorelli, Fm, Bertini, Enrico Silvio, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Ricci, Enzo (ORCID:0000-0003-3092-3597), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)
- Abstract
Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes.
- Published
- 2010
20. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
- Author
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Mercuri, Eugenio Maria, Messina, Salvatore, Bruno, Cristina, Mora, M, Pegoraro, E, Comi, Gp, D'Amico, Anna, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, Pietro, Cassandrini, D, Laverda, A, Moggio, M, Morandi, Laura, Moroni, I, Pane, Marika, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, Enzo, Ruggieri, Antonello, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, Cp, Uggetti, C, Vasco, Gessica, Santorelli, Fm, Bertini, Enrico Silvio, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, Marika (ORCID:0000-0002-4851-6124), Ricci, Enzo (ORCID:0000-0003-3092-3597), Mercuri, Eugenio Maria, Messina, Salvatore, Bruno, Cristina, Mora, M, Pegoraro, E, Comi, Gp, D'Amico, Anna, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, Pietro, Cassandrini, D, Laverda, A, Moggio, M, Morandi, Laura, Moroni, I, Pane, Marika, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, Enzo, Ruggieri, Antonello, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, Cp, Uggetti, C, Vasco, Gessica, Santorelli, Fm, Bertini, Enrico Silvio, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, Marika (ORCID:0000-0002-4851-6124), and Ricci, Enzo (ORCID:0000-0003-3092-3597)
- Abstract
Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases.
- Published
- 2009
21. Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome
- Author
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Magaudda, Adriana, Dalla Bernardina, Bernardo, De Marco, Paolo, Sfaello, Zenon Milciades, Longo, Michele, Colamaria, V., Daniele, O., Tortorella, G., Tata, M.A., Di Pierri, R., Meduri, M., Magaudda, Adriana, Dalla Bernardina, Bernardo, De Marco, Paolo, Sfaello, Zenon Milciades, Longo, Michele, Colamaria, V., Daniele, O., Tortorella, G., Tata, M.A., Di Pierri, R., and Meduri, M.
- Abstract
Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified., Fil: Magaudda, Adriana. University of Messina; Italia, Fil: Dalla Bernardina, Bernardo. University of Verona; Italia, Fil: De Marco, Paolo. Centro Angeli Custodi. Istituti Ospedalieri; Italia, Fil: Sfaello, Zenon Milciades. Universidad Católica de Córdoba. Facultad de Ciencias de la Salud; Argentina, Fil: Longo, Michele. Università Cattolica del Sacro Cuore; Italia, Fil: Colamaria, V. University of Verona; Italia, Fil: Daniele, O. University of Palermo; Italia, Fil: Tortorella, G. University of Verona; Italia, Fil: Tata, M.A. University of Naples; Italia, Fil: Di Pierri, R. University of Messina; Italia, Fil: Meduri, M. University of Verona; Italia
- Published
- 1993
22. [Morphometric Study of Peripheral-nerve in Krabbes Leukodystrophy]
- Author
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UCL, Guzzetta, F., Sidoti, M., Tortorella, G., Lyon, Gilbert, UCL, Guzzetta, F., Sidoti, M., Tortorella, G., and Lyon, Gilbert
- Published
- 1981
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