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1. Candidacy and long-term outcomes of subcutaneous implantable cardioverter-defibrillators in current practice in patients with hypertrophic cardiomyopathy

Author: Rella, V., Maurizi, N., Bernardini, A., Brasca, F.M., Salerno, S., Meda, M., Mariani, D., Torchio, M., Ravaro, S., Cerea, P., Castelletti, S., Fumagalli, C., Conte, G., Auricchio, A., Girolami, F., Pieragnoli, P., Carrassa, G.M., Parati, G., Olivotto, I., Perego, G.B., Cecchi, F., and Crotti, L.
Published: 2024
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2. Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency

Author: Ceccato, F., Torchio, M., Tizianel, I., Peleg Falb, M., Barbot, M., Sabbadin, C., Betterle, C., and Scaroni, C.
Published: 2023
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3. Therapeutic Efficacy of Mexiletine for Long QT Syndrome Type 2: Evidence from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes, Transgenic Rabbits, and Patients

Author: Crotti, L, Neves, R, Dagradi, F, Musu, G, Giannetti, F, Bos, J, Barbieri, M, Cerea, P, Giovenzana, F, Torchio, M, Mura, M, Gnecchi, M, Conte, G, Auricchio, A, Sala, L, Odening, K, Ackerman, M, Schwartz, P, Crotti L., Neves R., Dagradi F., Musu G., Giannetti F., Bos J. M., Barbieri M., Cerea P., Giovenzana F. L. F., Torchio M., Mura M., Gnecchi M., Conte G., Auricchio A., Sala L., Odening K. E., Ackerman M. J., Schwartz P. J., Crotti, L, Neves, R, Dagradi, F, Musu, G, Giannetti, F, Bos, J, Barbieri, M, Cerea, P, Giovenzana, F, Torchio, M, Mura, M, Gnecchi, M, Conte, G, Auricchio, A, Sala, L, Odening, K, Ackerman, M, Schwartz, P, Crotti L., Neves R., Dagradi F., Musu G., Giannetti F., Bos J. M., Barbieri M., Cerea P., Giovenzana F. L. F., Torchio M., Mura M., Gnecchi M., Conte G., Auricchio A., Sala L., Odening K. E., Ackerman M. J., and Schwartz P. J.
Abstract: BACKGROUND: Despite major advances in the clinical management of long QT syndrome, some patients are not fully protected by beta-blocker therapy. Mexiletine is a well-known sodium channel blocker, with proven efficacy in patients with sodium channel-mediated long QT syndrome type 3. Our aim was to evaluate the efficacy of mexiletine in long QT syndrome type 2 (LQT2) using cardiomyocytes derived from patient-specific human induced pluripotent stem cells, a transgenic LQT2 rabbit model, and patients with LQT2. METHODS: Heart rate-corrected field potential duration, a surrogate for QTc, was measured in human induced pluripotent stem cells from 2 patients with LQT2 (KCNH2-p.A561V, KCNH2-p.R366X) before and after mexiletine using a multiwell multi-electrode array system. Action potential duration at 90% repolarization (APD90) was evaluated in cardiomyocytes isolated from transgenic LQT2 rabbits (KCNH2-p.G628S) at baseline and after mexiletine application. Mexiletine was given to 96 patients with LQT2. Patients were defined as responders in the presence of a QTc shortening >= 40 ms. Antiarrhythmic efficacy of mexiletine was evaluated by a Poisson regression model. RESULTS: After acute treatment with mexiletine, human induced pluripotent stem cells from both patients with LQT2 showed a significant shortening of heart rate-corrected field potential duration compared with dimethyl sulfoxide control. In cardiomyocytes isolated from LQT2 rabbits, acute mexiletine significantly shortened APD90 by 113 ms, indicating a strong mexiletine-mediated shortening across different LQT2 model systems. Mexiletine was given to 96 patients with LQT2 either chronically (n=60) or after the acute oral drug test (n=36): 65% of the patients taking mexiletine only chronically and 75% of the patients who performed the acute oral test were responders. There was a significant correlation between basal QTc and triangle QTc during the test (r= -0.8; P<0.001). The oral drug test correctly predicte
Published: 2024

4. Candidacy and long-term outcomes of subcutaneous implantable cardioverter-defibrillators in current practice in patients with hypertrophic cardiomyopathy

Author: Rella, V, Maurizi, N, Bernardini, A, Brasca, F, Salerno, S, Meda, M, Mariani, D, Torchio, M, Ravaro, S, Cerea, P, Castelletti, S, Fumagalli, C, Conte, G, Auricchio, A, Girolami, F, Pieragnoli, P, Carrassa, G, Parati, G, Olivotto, I, Perego, G, Cecchi, F, Crotti, L, Rella V., Maurizi N., Bernardini A., Brasca F. M., Salerno S., Meda M., Mariani D., Torchio M., Ravaro S., Cerea P., Castelletti S., Fumagalli C., Conte G., Auricchio A., Girolami F., Pieragnoli P., Carrassa G. M., Parati G., Olivotto I., Perego G. B., Cecchi F., Crotti L., Rella, V, Maurizi, N, Bernardini, A, Brasca, F, Salerno, S, Meda, M, Mariani, D, Torchio, M, Ravaro, S, Cerea, P, Castelletti, S, Fumagalli, C, Conte, G, Auricchio, A, Girolami, F, Pieragnoli, P, Carrassa, G, Parati, G, Olivotto, I, Perego, G, Cecchi, F, Crotti, L, Rella V., Maurizi N., Bernardini A., Brasca F. M., Salerno S., Meda M., Mariani D., Torchio M., Ravaro S., Cerea P., Castelletti S., Fumagalli C., Conte G., Auricchio A., Girolami F., Pieragnoli P., Carrassa G. M., Parati G., Olivotto I., Perego G. B., Cecchi F., and Crotti L.
Abstract: Background: In patients with Hypertrophic Cardiomyopathy (HCM) S-ICD is usually the preferred option as pacing is generally not indicated. However, limited data are available on its current practice adoption and long-term follow-up. Methods: Consecutive HCM patients with S-ICD implanted between 2013 and 2021 in 3 international centers were enrolled in this observational study. Baseline, procedural and follow-up data were regularly collected. Efficacy and safety were compared with a cohort of HCM patients implanted with a tv-ICD. Results: Seventy patients (64% males) were implanted with S-ICD at 41 ± 15 years, whereas 168 patients with tv-ICD at 49 ± 16 years. For S-ICD patients, mean ESC SCD risk score was 4,5 ± 1.9%: 25 (40%) at low-risk, 17 (27%) at intermediate and 20 (33%) at high-risk. Patients were followed-up for 5.1 ± 2.3 years. Two patients (0.6 per 100-person-years, vs 0.4 per 100 person-years with tv-ICD, p = 0.45) received an appropriate shock on VF, 17 (24%) were diagnosed with de-novo AF. Inappropriate shocks occurred in 4 patients (1.2 per 100-person-years, vs 0.9 per 100 person-years with tv-ICD, p = 0.74), all before Smart-Pass algorithm implementation. Four patients experienced device-related adverse events (1.2 per 100-person-years, vs 1 per 100 person-years with tv-ICD, p = 0.35%). Conclusions: S-ICDs were often implanted in patients with an overall low-intermediate ESC SCD risk, reflecting both the inclusion of additional risk markers and a lower decision threshold. S-ICDs in HCM patients followed for over 5 years showed to be effective in conversion of VF and safe. Greater scrutiny may be required to avoid overtreatment in patients with milder risk profiles.
Published: 2024

5. Long-term outcomes associated with subcutaneous implantable cardioverter-defibrillators in patients with hypertrophic cardiomyopathy

Author: Rella, V, primary, Maurizi, N, additional, Bernardini, A, additional, Brasca, F M, additional, Salerno, S, additional, Meda, M, additional, Mariani, D, additional, Torchio, M, additional, Conte, G, additional, Auricchio, A, additional, Parati, G, additional, Olivotto, I, additional, Perego, G B, additional, Cecchi, F, additional, and Crotti, L, additional
Published: 2024
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6. Second primary neoplasms in patients with lung and gastroenteropancreatic neuroendocrine neoplasms: Data from a retrospective multi-centric study

Author: Massironi, S., Campana, D., Pusceddu, S., Albertelli, M., Faggiano, A., Panzuto, F., Smiroldo, V., Andreasi, V., Rossi, R.E., Maggio, I., Torchio, M., Dotto, A., Modica, R., Rinzivillo, M., Carnaghi, C., Partelli, S., Fanetti, I., Lamberti, G., Corti, F., Ferone, D., Colao, A., Annibale, B., Invernizzi, P., and Falconi, M.
Published: 2021
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7. Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

Author: Kotta, M, Torchio, M, Bayliss, P, Cohen, M, Quarrell, O, Wheeldon, N, Marton, T, Gentilini, D, Crotti, L, Coombs, R, Schwartz, P, Kotta M. -C., Torchio M., Bayliss P., Cohen M. C., Quarrell O., Wheeldon N., Marton T., Gentilini D., Crotti L., Coombs R. C., Schwartz P. J., Kotta, M, Torchio, M, Bayliss, P, Cohen, M, Quarrell, O, Wheeldon, N, Marton, T, Gentilini, D, Crotti, L, Coombs, R, Schwartz, P, Kotta M. -C., Torchio M., Bayliss P., Cohen M. C., Quarrell O., Wheeldon N., Marton T., Gentilini D., Crotti L., Coombs R. C., and Schwartz P. J.
Abstract: BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4. SUDC is rarer than SIDS, and although cardiogenetic testing (molecular autopsy) identifies an underlying cause in a fraction of SIDS, less is known about SUDC. METHODS AND RESULTS: Seventy-seven SIDS and 16 SUDC cases underwent molecular autopsy with 25 definitive-evidence arrhythmia-associated genes. In 18 cases, another 76 genes with varying degrees of evidence were analyzed. Parents were offered cascade screening. Double-blind review of clinical-genetic data established genotype– phenotype correlations. The yield of likely pathogenic variants in the 25 genes was higher in SUDC than in SIDS (18.8% [3/16] versus 2.6% [2/77], respec-tively; P=0.03), whereas novel/ultra-rare variants of uncertain significance were comparably represented. Rare variants of uncertain significance and likely benign variants were found only in SIDS. In cases with expanded analyses, likely pathogenic/ likely benign variants stemmed only from definitive-evidence genes, whereas all other genes contributed only variants of uncertain significance. Among 24 parents screened, variant status and phenotype largely agreed, and 3 cases positively cor-related for cardiac channelopathies. Genotype– phenotype correlations significantly aided variant adjudication. CONCLUSIONS: Genetic yield is higher in SUDC than in SIDS although, in both, it is contributed only by definitive-evidence genes. SIDS/SUDC cascade family screening facilitates establishment or dismissal of a diagnosis through definitive variant adjudication indicating that anonymity is no longer justifiable. Channelopathies may underlie a relevant fraction of SUDC. Binary classifications of genetic causality (pathogenic versus benign) could not always be adequate.
Published: 2023

8. Acute Myocarditis Associated With Desmosomal Gene Variants

Author: Ammirati, E, Raimondi, F, Piriou, N, Sardo Infirri, L, Mohiddin, S, Mazzanti, A, Shenoy, C, Cavallari, U, Imazio, M, Aquaro, G, Olivotto, I, Pedrotti, P, Sekhri, N, Van de Heyning, C, Broeckx, G, Peretto, G, Guttmann, O, Dellegrottaglie, S, Scatteia, A, Gentile, P, Merlo, M, Goldberg, R, Reyentovich, A, Sciamanna, C, Klaassen, S, Poller, W, Trankle, C, Abbate, A, Keren, A, Horowitz-Cederboim, S, Cadrin-Tourigny, J, Tadros, R, Annoni, G, Bonoldi, E, Toquet, C, Marteau, L, Probst, V, Trochu, J, Kissopoulou, A, Grosu, A, Kukavica, D, Trancuccio, A, Gil, C, Tini, G, Pedrazzini, M, Torchio, M, Sinagra, G, Gimeno, J, Bernasconi, D, Valsecchi, M, Klingel, K, Adler, E, Camici, P, Cooper, L, Ammirati E., Raimondi F., Piriou N., Sardo Infirri L., Mohiddin S. A., Mazzanti A., Shenoy C., Cavallari U. A., Imazio M., Aquaro G. D., Olivotto I., Pedrotti P., Sekhri N., Van de Heyning C. M., Broeckx G., Peretto G., Guttmann O., Dellegrottaglie S., Scatteia A., Gentile P., Merlo M., Goldberg R. I., Reyentovich A., Sciamanna C., Klaassen S., Poller W., Trankle C. R., Abbate A., Keren A., Horowitz-Cederboim S., Cadrin-Tourigny J., Tadros R., Annoni G. A., Bonoldi E., Toquet C., Marteau L., Probst V., Trochu J. N., Kissopoulou A., Grosu A., Kukavica D., Trancuccio A., Gil C., Tini G., Pedrazzini M., Torchio M., Sinagra G., Gimeno J. R., Bernasconi D., Valsecchi M. G., Klingel K., Adler E. D., Camici P. G., Cooper L. T., Ammirati, E, Raimondi, F, Piriou, N, Sardo Infirri, L, Mohiddin, S, Mazzanti, A, Shenoy, C, Cavallari, U, Imazio, M, Aquaro, G, Olivotto, I, Pedrotti, P, Sekhri, N, Van de Heyning, C, Broeckx, G, Peretto, G, Guttmann, O, Dellegrottaglie, S, Scatteia, A, Gentile, P, Merlo, M, Goldberg, R, Reyentovich, A, Sciamanna, C, Klaassen, S, Poller, W, Trankle, C, Abbate, A, Keren, A, Horowitz-Cederboim, S, Cadrin-Tourigny, J, Tadros, R, Annoni, G, Bonoldi, E, Toquet, C, Marteau, L, Probst, V, Trochu, J, Kissopoulou, A, Grosu, A, Kukavica, D, Trancuccio, A, Gil, C, Tini, G, Pedrazzini, M, Torchio, M, Sinagra, G, Gimeno, J, Bernasconi, D, Valsecchi, M, Klingel, K, Adler, E, Camici, P, Cooper, L, Ammirati E., Raimondi F., Piriou N., Sardo Infirri L., Mohiddin S. A., Mazzanti A., Shenoy C., Cavallari U. A., Imazio M., Aquaro G. D., Olivotto I., Pedrotti P., Sekhri N., Van de Heyning C. M., Broeckx G., Peretto G., Guttmann O., Dellegrottaglie S., Scatteia A., Gentile P., Merlo M., Goldberg R. I., Reyentovich A., Sciamanna C., Klaassen S., Poller W., Trankle C. R., Abbate A., Keren A., Horowitz-Cederboim S., Cadrin-Tourigny J., Tadros R., Annoni G. A., Bonoldi E., Toquet C., Marteau L., Probst V., Trochu J. N., Kissopoulou A., Grosu A., Kukavica D., Trancuccio A., Gil C., Tini G., Pedrazzini M., Torchio M., Sinagra G., Gimeno J. R., Bernasconi D., Valsecchi M. G., Klingel K., Adler E. D., Camici P. G., and Cooper L. T.
Abstract: Background: The risk of adverse cardiovascular events in patients with acute myocarditis (AM) and desmosomal gene variants (DGV) remains unknown. Objectives: The purpose of this study was to ascertain the risk of death, ventricular arrhythmias, recurrent myocarditis, and heart failure (main endpoint) in patients with AM and pathogenic or likely pathogenetic DGV. Methods: In a retrospective international study from 23 hospitals, 97 patients were included: 36 with AM and DGV (DGV[+]), 25 with AM and negative gene testing (DGV[−]), and 36 with AM without genetics testing. All patients had troponin elevation plus findings consistent with AM on histology or at cardiac magnetic resonance (CMR). In 86 patients, CMR changes in function and structure were re-assessed at follow-up. Results: In the DGV(+) AM group (88.9% DSP variants), median age was 24 years, 91.7% presented with chest pain, and median left ventricular ejection fraction (LVEF) was 56% on CMR (P = NS vs the other 2 groups). Kaplan-Meier curves demonstrated a higher risk of the main endpoint in DGV(+) AM compared with DGV(−) and without genetics testing patients (62.3% vs 17.5% vs 5.3% at 5 years, respectively; P < 0.0001), driven by myocarditis recurrence and ventricular arrhythmias. At follow-up CMR, a higher number of late gadolinium enhanced segments was found in DGV(+) AM. Conclusions: Patients with AM and evidence of DGV have a higher incidence of adverse cardiovascular events compared with patients with AM without DGV. Further prospective studies are needed to ascertain if genetic testing might improve risk stratification of patients with AM who are considered at low risk.
Published: 2022

9. Optimal Health-aware Charging Protocol for Lithium-ion Batteries: A Fast Model Predictive Control Approach

Author: Torchio, M., Magni, L., Braatz, R.D., and Raimondo, D.M.
Published: 2016
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10. Second primary neoplasms in patients with lung and gastroenteropancreatic neuroendocrine neoplasms: Data from a retrospective multi-centric study

Author: Massironi, S, Campana, D, Pusceddu, S, Albertelli, M, Faggiano, A, Panzuto, F, Smiroldo, V, Andreasi, V, Rossi, R, Maggio, I, Torchio, M, Dotto, A, Modica, R, Rinzivillo, M, Carnaghi, C, Partelli, S, Fanetti, I, Lamberti, G, Corti, F, Ferone, D, Colao, A, Annibale, B, Invernizzi, P, Falconi, M, Massironi S., Campana D., Pusceddu S., Albertelli M., Faggiano A., Panzuto F., Smiroldo V., Andreasi V., Rossi R. E., Maggio I., Torchio M., Dotto A., Modica R., Rinzivillo M., Carnaghi C., Partelli S., Fanetti I., Lamberti G., Corti F., Ferone D., Colao A., Annibale B., Invernizzi P., Falconi M., Massironi, S, Campana, D, Pusceddu, S, Albertelli, M, Faggiano, A, Panzuto, F, Smiroldo, V, Andreasi, V, Rossi, R, Maggio, I, Torchio, M, Dotto, A, Modica, R, Rinzivillo, M, Carnaghi, C, Partelli, S, Fanetti, I, Lamberti, G, Corti, F, Ferone, D, Colao, A, Annibale, B, Invernizzi, P, Falconi, M, Massironi S., Campana D., Pusceddu S., Albertelli M., Faggiano A., Panzuto F., Smiroldo V., Andreasi V., Rossi R. E., Maggio I., Torchio M., Dotto A., Modica R., Rinzivillo M., Carnaghi C., Partelli S., Fanetti I., Lamberti G., Corti F., Ferone D., Colao A., Annibale B., Invernizzi P., and Falconi M.
Abstract: Background: Patients with sporadic neuroendocrine neoplasms may exhibit a higher risk of a second primary tumor than the general population. Aim: This study aimed to analyze the occurrence of second primary malignancies. Methods: A retrospective cohort of 2757 patients with sporadic lung and gastro-entero-pancreatic neuroendocrine neoplasms, managed at eight Italian tertiary referral Centers, was included. Results: Between 2000 and 2019, a second primary malignancy was observed in 271 (9.8%) neuroendocrine neoplasms patients with 32 developing a third tumor. There were 135 (49.8%) females and the median age was 64 years. The most frequent locations of the second tumors were breast (18.8%), prostate (12.5%), colon (9.6%), blood tumors (8.5%), and lung (7.7%). The second primary tumor was synchronous in 19.2% of cases, metachronous in 43.2%, and previous in 37.6%. As concerned the neuroendocrine neoplasms, the 5- and 10-year survival rates were 87.8% and 74.4%, respectively. PFS for patients with a second primary malignancy was shorter than for patients without a second primary malignancy. Death was mainly related to neuroendocrine neoplasms. Conclusion: In NEN patients the prevalence of second primary malignancies was not negligible, suggesting a possible neoplastic susceptibility. Overall survival was not affected by the occurrence of a second primary malignancy.
Published: 2021

11. Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency

Author: Ceccato, F., primary, Torchio, M., additional, Tizianel, I., additional, Peleg Falb, M., additional, Barbot, M., additional, Sabbadin, C., additional, Betterle, C., additional, and Scaroni, C., additional
Published: 2022
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12. Novel basic science insights to improve the management of heart failure: Review of the working group on cellular and molecular biology of the heart of the italian society of cardiology

Author: Ameri, P, Schiattarella, G, Crotti, L, Torchio, M, Bertero, E, Rodolico, D, Forte, M, Di Mauro, V, Paolillo, R, Chimenti, C, Torella, D, Catalucci, D, Sciarretta, S, Basso, C, Indolfi, C, Perrino, C, Ameri P, Schiattarella GG, Crotti L, Torchio M, Bertero E, Rodolico D, Forte M, Di Mauro V, Paolillo R, Chimenti C, Torella D, Catalucci D, Sciarretta S, Basso C, Indolfi C, Perrino C., Ameri, P, Schiattarella, G, Crotti, L, Torchio, M, Bertero, E, Rodolico, D, Forte, M, Di Mauro, V, Paolillo, R, Chimenti, C, Torella, D, Catalucci, D, Sciarretta, S, Basso, C, Indolfi, C, Perrino, C, Ameri P, Schiattarella GG, Crotti L, Torchio M, Bertero E, Rodolico D, Forte M, Di Mauro V, Paolillo R, Chimenti C, Torella D, Catalucci D, Sciarretta S, Basso C, Indolfi C, and Perrino C.
Abstract: Despite important advances in diagnosis and treatment, heart failure (HF) remains a syndrome with substantial morbidity and dismal prognosis. Although implementation and optimization of existing technologies and drugs may lead to better management of HF, new or alternative strategies are desirable. In this regard, basic science is expected to give fundamental inputs, by expanding the knowledge of the pathways underlying HF development and progression, identifying approaches that may improve HF detection and prognostic stratification, and finding novel treatments. Here, we discuss recent basic science insights that encompass major areas of translational research in HF and have high potential clinical impact.
Published: 2020

13. Conversion of sugar beet residues into lipids by Lipomyces starkeyi for biodiesel production

Author: Martani, F, Maestroni, L, Torchio, M, Ami, D, Natalello, A, Lotti, M, Porro, D, Branduardi, P, Martani F., Maestroni L., Torchio M., Ami D., Natalello A., Lotti M., Porro D., Branduardi P., Martani, F, Maestroni, L, Torchio, M, Ami, D, Natalello, A, Lotti, M, Porro, D, Branduardi, P, Martani F., Maestroni L., Torchio M., Ami D., Natalello A., Lotti M., Porro D., and Branduardi P.
Abstract: Background: Lipids from oleaginous yeasts emerged as a sustainable alternative to vegetable oils and animal fat to produce biodiesel, the biodegradable and environmentally friendly counterpart of petro-diesel fuel. To develop economically viable microbial processes, the use of residual feedstocks as growth and production substrates is required. Results: In this work we investigated sugar beet pulp (SBP) and molasses, the main residues of sugar beet processing, as sustainable substrates for the growth and lipid accumulation by the oleaginous yeast Lipomyces starkeyi. We observed that in hydrolysed SBP the yeast cultures reached a limited biomass, cellular lipid content, lipid production and yield (2.5 g/L, 19.2%, 0.5 g/L and 0.08 g/g, respectively). To increase the initial sugar availability, cells were grown in SBP blended with molasses. Under batch cultivation, the cellular lipid content was more than doubled (47.2%) in the presence of 6% molasses. Under pulsed-feeding cultivation, final biomass, cellular lipid content, lipid production and lipid yield were further improved, reaching respectively 20.5 g/L, 49.2%, 9.7 g/L and 0.178 g/g. Finally, we observed that SBP can be used instead of ammonium sulphate to fulfil yeasts nitrogen requirement in molasses-based media for microbial oil production. Conclusions: This study demonstrates for the first time that SBP and molasses can be blended to create a feedstock for the sustainable production of lipids by L. starkeyi. The data obtained pave the way to further improve lipid production by designing a fed-batch process in bioreactor. Graphical abstract: [Figure not available: see fulltext.]
Published: 2020

14. SCN5A mutation type and a genetic risk score associate variably with brugada syndrome phenotype in SCN5A families

Author: Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., Behr E. R., Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., and Behr E. R.
Abstract: Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positive individuals are observed. E1784K-SCN5A is the most common SCN5A mutation identified. We determined the association of a BrS genetic risk score (BrS-GRS) and SCN5A mutation type on BrS phenotype in BrS families with SCN5A mutations. Methods: Subjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring SCN5A mutations were recruited from 16 centers (n=312). Single nucleotide polymorphisms previously associated with BrS at genome-wide significance were studied in both cohorts: rs11708996, rs10428132, and rs9388451. An additive linear genetic model for the BrS-GRS was assumed (6 single nucleotide polymorphism risk alleles). Results: In the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85]; P=0.0078). Among SCN5A-positive individuals (n=258), BrS-GRS ≥4 risk alleles yielded an odds ratio of 2.35 ([95% CI, 0.89-6.22]; P=0.0846). In SCN5A-negative relatives (n=54), BrS-GRS ≥4 alleles yielded an odds ratio of 22.29 ([95% CI, 1.84-269.30]; P=0.0146). Among E1784K-SCN5A positive family members (n=79), hosting ≥4 risk alleles gave an odds ratio=5.12 ([95% CI, 1.93-13.62]; P=0.0011). Conclusions: Common genetic variation is associated with variable expressivity of BrS phenotype in SCN5A families, explaining in part incomplete penetrance and genotype-negative phenotype-positive individuals. SCN5A mutation genotype and a BrS-GRS associate with BrS phenotype, but the strength of association varies according to presence of a SCN5A mutation and severity of loss of function.
Published: 2020

15. Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk

Author: Musa, H, Marcou, C, Herron, T, Makara, M, Tester, D, O'Connell, R, Rosinski, B, Guerrero-Serna, G, Milstein, M, Monteiro Da Rocha, A, Ye, D, Crotti, L, Nesterenko, V, Castelletti, S, Torchio, M, Kotta, M, Dagradi, F, Antzelevitch, C, Mohler, P, Schwartz, P, Ackerman, M, Anumonwo, J, Musa H, Marcou CA, Herron TJ, Makara M, Tester DJ, O'Connell R, Rosinski B, Guerrero-Serna G, Milstein ML, Monteiro Da Rocha A, Ye D, Crotti L, Nesterenko VV, Castelletti S, Torchio M, Kotta MC, Dagradi F, Antzelevitch C, Mohler PJ, Schwartz PJ, Ackerman MJ, Anumonwo JMB., Musa, H, Marcou, C, Herron, T, Makara, M, Tester, D, O'Connell, R, Rosinski, B, Guerrero-Serna, G, Milstein, M, Monteiro Da Rocha, A, Ye, D, Crotti, L, Nesterenko, V, Castelletti, S, Torchio, M, Kotta, M, Dagradi, F, Antzelevitch, C, Mohler, P, Schwartz, P, Ackerman, M, Anumonwo, J, Musa H, Marcou CA, Herron TJ, Makara M, Tester DJ, O'Connell R, Rosinski B, Guerrero-Serna G, Milstein ML, Monteiro Da Rocha A, Ye D, Crotti L, Nesterenko VV, Castelletti S, Torchio M, Kotta MC, Dagradi F, Antzelevitch C, Mohler PJ, Schwartz PJ, Ackerman MJ, and Anumonwo JMB.
Abstract: Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk. Am J Physiol Heart Circ Physiol 318: H1357-H1370, 2020. First published March 20, 2020; doi:10.1152/ajpheart.00481.2019.-Synapseassociated protein 97 (SAP97) is a scaffolding protein crucial for the functional expression of several cardiac ion channels and therefore proper cardiac excitability. Alterations in the functional expression of SAP97 can modify the ionic currents underlying the cardiac action potential and consequently confer susceptibility for arrhythmogenesis. In this study, we generated a murine model for inducible, cardiactargeted Sap97 ablation to investigate arrhythmia susceptibility and the underlying molecular mechanisms. Furthermore, we sought to identify human SAP97 (DLG1) variants that were associated with inherited arrhythmogenic disease. The murine model of cardiacspecific Sap97 ablation demonstrated several ECG abnormalities, pronounced action potential prolongation subject to high incidence of arrhythmogenic afterdepolarizations and notable alterations in the activity of the main cardiac ion channels. However, no DLG1 mutations were found in 40 unrelated cases of genetically elusive long QT syndrome (LQTS). Instead, we provide the first evidence implicating a gain of function in human DLG1 mutation resulting in an increase in Kv4.3 current (Ito) as a novel, potentially pathogenic substrate for Brugada syndrome (BrS). In conclusion, DLG1 joins a growing list of genes encoding ion channel interacting proteins (ChIPs) identified as potential channelopathy-susceptibility genes because of their ability to regulate the trafficking, targeting, and modulation of ion channels that are critical for the generation and propagation of the cardiac electrical impulse. Dysfunction in these critical components of cardiac excitability can potentially result in fatal cardiac disease.
Published: 2020

16. Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy

Author: Maurizi, N, Rella, V, Fumagalli, C, Salerno, S, Castelletti, S, Dagradi, F, Torchio, M, Marceca, A, Meda, M, Gasparini, M, Boschi, B, Girolami, F, Parati, G, Olivotto, I, Crotti, L, Cecchi, F, Maurizi N., Rella V., Fumagalli C., Salerno S., Castelletti S., Dagradi F., Torchio M., Marceca A., Meda M., Gasparini M., Boschi B., Girolami F., Parati G., Olivotto I., Crotti L., Cecchi F., Maurizi, N, Rella, V, Fumagalli, C, Salerno, S, Castelletti, S, Dagradi, F, Torchio, M, Marceca, A, Meda, M, Gasparini, M, Boschi, B, Girolami, F, Parati, G, Olivotto, I, Crotti, L, Cecchi, F, Maurizi N., Rella V., Fumagalli C., Salerno S., Castelletti S., Dagradi F., Torchio M., Marceca A., Meda M., Gasparini M., Boschi B., Girolami F., Parati G., Olivotto I., Crotti L., and Cecchi F.
Abstract: Background: Differential diagnosis of genetic causes of left ventricular hypertrophy (LVH) is crucial for disease-specific therapy. We aim to describe the prevalence of Cardiac Amyloidosis (CA) among patients ≥40 years with an initial diagnosis of HCM referred for second opinion to national cardiomyopathy centres. Methods: Consecutive patients aged ≥40 years referred with a tentative HCM diagnosis in the period 2014–2017 underwent clinical evaluation and genetic testing for HCM (including trans-thyretin-TTR). Patients with at least one red flag for CA underwent blood/urine tests, abdominal fat biopsy and/or bone-scintigraphy tracing and eventually ApoAI sequencing. Results: Out of 343 patients (age 60 ± 13 years), 251 (73%) carried a likely/pathogenic gene variant, including 12 (3.5%) in the CA-associated genes TTR (n = 11) and ApoAI (n = 1). Furthermore, 6 (2%) patients had a mutation in GLA. Among the remaining, mutation-negative patients, 26 with ≥1 CA red-flag were investigated further: 3 AL-CA and 17 wild-type-TTR-CA were identified. Ultimately, 32(9%) patients were diagnosed with CA. Prevalence of CA increased with age: 1/75 (1%) at age 40–49, 2/86 (2%) at age 50–59, 8/84 (9%) at age 60–69, 13/61 (21%) at age 70–79, 8/31 (26%) at age ≥80 (p for trend <0.01). Conclusions: Among patients referred with and initial diagnosis of HCM, CA was the most common unrecognized mimic (9% prevalence) and increased with age (from 1% at ages 40–49 years to 26% >80 years). Age at diagnosis should be considered one of the most relevant red flags for CA in patients with HCM phenotypes; however, there is no clear age cut-off mandating scintigraphy and other second level investigations in the absence of other features suggestive of CA
Published: 2020

17. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

Author: Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
Abstract: In the version of this article initially published, Federico Manevy’s name appeared with a middle initial in error. The name has been corrected in the HTML and PDF versions of the article.
Published: 2022

18. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author: Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina
Abstract: Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.
Published: 2022

19. Applications of Artificial Intelligence Methods to Medical Decision Making in Gastroenterology

Author: Molino, G., Torchio, M., Avagnina, P., Dal Monte, P. R., editor, D’Imperio, N., editor, and Piccari, G. Giuliani, editor
Published: 1991
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20. Optimal charging of an electric vehicle battery pack: A real-time sensitivity-based model predictive control approach

Author: Pozzi, Andrea, Torchio, M., Braatz, R. D., Raimondo, D. M., Pozzi A. (ORCID:0000-0002-9808-5123), Pozzi, Andrea, Torchio, M., Braatz, R. D., Raimondo, D. M., and Pozzi A. (ORCID:0000-0002-9808-5123)
Abstract: Lithium-ion battery packs are usually composed of hundreds of cells arranged in series and parallel connections. The proper functioning of these complex devices requires suitable Battery Management Systems (BMSs). Advanced BMSs rely on mathematical models to assure safety and high performance. While many approaches have been proposed for the management of single cells, the control of multiple cells has been less investigated and usually relies on simplified models such as equivalent circuit models. This paper addresses the management of a battery pack in which each cell is explicitly modelled as the Single Particle Model with electrolyte and thermal dynamics. A nonlinear Model Predictive Control (MPC) is presented for optimally charging the battery pack while taking voltage and temperature limits on each cell into account. Since the computational cost of nonlinear MPC grows significantly with the complexity of the underlying model, a sensitivity-based MPC (sMPC) is proposed, in which the model adopted is obtained by linearizing the dynamics along a nominal trajectory that is updated over time. The resulting sMPC optimizations are quadratic programs which can be solved in real-time even for large battery packs (e.g. fully electric motorbike with 156 cells) while achieving the same performance of the nonlinear MPC.
Published: 2020

21. Two-Wire Solution for Measurement of the Thermal Conductivity and Specific Heat Capacity of Liquids: Experimental Design

Author: Giaretto, V. and Torchio, M. F.
Published: 2004
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22. Genotypes and haplotypes in the 3′ untranslated region of the HLA-G gene and their association with clinical outcome of hematopoietic stem cell transplantation for beta-thalassemia

Author: Sizzano, F., Testi, M., Zito, L., Crocchiolo, R., Troiano, M., Mazzi, B., Turchiano, G., Torchio, M., Pultrone, C., Gregori, S., Chiesa, R., Gaziev, J., Sodani, P., Marktel, S., Amoroso, A., Roncarolo, M. G., Lucarelli, G., Ciceri, F., Andreani, M., and Fleischhauer, K.
Published: 2012
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23. T03.01.15 SECOND PRIMARY NEOPLASMS IN PATIENTS WITH GASTRO-ENTERO-PANCREATIC NEUROENDOCRINE NEOPLASMS (GEP-NEN): DATA FROM A RETROSPECTIVE IT.A.NET STUDY

Author: Massironi, S., primary, Campana, D., additional, Pusceddu, S., additional, Albertelli, M., additional, Faggiano, A., additional, Panzuto, F., additional, Smiroldo, V., additional, Andreasi, V., additional, Rossi, R.E., additional, Maggio, I., additional, Torchio, M., additional, Ambrosetti, E., additional, Modica, R., additional, Rinzivillo, M., additional, Carnaghi, C., additional, Partelli, S., additional, Fanetti, I., additional, Lamberti, G., additional, Corti, F., additional, Dotto, A., additional, Colao, A., additional, Annibale, B., additional, Falconi, M., additional, and Invernizzi, P., additional
Published: 2020
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24. 1182P Baseline neutrophil-lymphocyte ratio and its variations after adjuvant radiotherapy predict clinical survival outcomes in locally advanced Merkel cell carcinoma (MCC)

Author: Torchio, M., primary, Corti, F., additional, Manca, P., additional, Prinzi, N., additional, Platania, M., additional, Maurichi, A., additional, Mattavelli, I., additional, Patuzzo, R., additional, Bedini, N., additional, Milione, M., additional, Cattaneo, L., additional, Beninato, T., additional, Prisciandaro, M., additional, Raimondi, A., additional, Pagani, F., additional, Colombo, E., additional, Coppa, J., additional, Di Bartolomeo, M., additional, de Braud, F.G., additional, and Pusceddu, S., additional
Published: 2020
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25. GENDER DIFFERENCES IN PREDICTORS OF PRIMARY VENTRICULAR FIBRILLATION: RESULTS OF THE PREDESTINATION STUDY

Author: Peano, V, Angelini, F, Baldi, E, Camporotondo, R, Pietrangiolillo, F, Cipriani, A, Lichelli, L, Cerea, P, Cacciavillani, L, Boccuzzi, G, Petitti, E, D‘Acunto, G, Caputo, M, Auricchio, A, Torchio, M, Gnecchi, M, Crotti, L, Schwartz, P, De Ferrari, G, and Dusi, V
Published: 2024
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26. Elementi di termodinamica tecnica

Author: Calì, M and Torchio, M.
Subjects: Termodinamica Applicata, Energia, Termodinamica Applicata, Energia
Published: 2019

27. Is MGMT methylation a new therapeutic target for biliary tract cancer?

Author: Niger, M., primary, Morano, F., additional, Manglaviti, S., additional, Nichetti, F., additional, Tamborini, E., additional, Perrone, F., additional, Marcuzzo, M., additional, Peverelli, G., additional, Brambilla, M., additional, Pagani, F., additional, Torchio, M., additional, Ottini, A., additional, Antista, M., additional, Pietrantonio, F., additional, Pusceddu, S., additional, Pruneri, G., additional, Di Bartolomeo, M., additional, and De Braud, F.G.M., additional
Published: 2019
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28. MGMT methylation in metastatic pancreatic cancer (mPAC): A single center experience

Author: Niger, M., primary, Morano, F., additional, Manglaviti, S., additional, Nichetti, F., additional, Perrone, F., additional, Tamborini, E., additional, Marcuzzo, M., additional, Raimondi, A., additional, Peverelli, G., additional, Brambilla, M., additional, Pagani, F., additional, Torchio, M., additional, Prisciandaro, M., additional, Antista, M., additional, Pietrantonio, F., additional, Pusceddu, S., additional, Pruneri, G., additional, De Braud, F.G.M., additional, and Di Bartolomeo, M., additional
Published: 2019
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29. A PROGRAM SUPPORTING CLINICAL IDENTIFICATION SEVERITY SCORING AND FUNCTIONAL ASSESSMENT OF LIVER DISORDERS

Author: Battista, S., Bar, F., Bucchi, M. C., Torchio, M., Marzuoli, M., Pagni, R., and Molino, G.
Published: 1998

30. Assessing the Performance of Model-Based Energy Saving Charging Strategies in Li-Ion Cells

Author: Pozzi, Andrea, Torchio, M., Raimondo, D. M., Pozzi A. (ORCID:0000-0002-9808-5123), Pozzi, Andrea, Torchio, M., Raimondo, D. M., and Pozzi A. (ORCID:0000-0002-9808-5123)
Abstract: Li-ion batteries are widely employed as sources of portable energy. Advanced Battery Management Systems (ABMSs) rely on models to optimize battery performance (e.g. time-charge, life-time). The aim of this work is to assess if an energy efficiency improvement with respect to standard charging protocols can be obtained from model-based optimization in the time or in the frequency domain. Time-domain optimization is first considered and it is shown that only negligible improvements can be obtained. Then, motivated by successful experiments (e.g. [1], [2]), frequency-domain optimization is also investigated. Within this context, we prove that linear models are inadequate for providing any improvement. Surprisingly, even the mostly used electrochemical model available in literature (P2D), fails to capture the energy dissipation reduction with sinusoidal input current. These results show that currently available models are not suitable for the design of model-based energy saving strategies.
Published: 2018

31. Film growth minimization in a Li-ion cell: A Pseudo Two Dimensional model-based optimal charging approach

Author: Pozzi, Andrea, Torchio, M., Raimondo, D. M., Pozzi A. (ORCID:0000-0002-9808-5123), Pozzi, Andrea, Torchio, M., Raimondo, D. M., and Pozzi A. (ORCID:0000-0002-9808-5123)
Abstract: Safety, fast charging and aging are among the most important issues when dealing with high power battery packs in electric and hybrid vehicles. Today's charging strategies are designed to guarantee safe operation in a conservative way, but are far from being optimal in terms of aging reduction and time charging minimization. For this reason, the interest of the research is focused on developing model-based battery management systems. Comparing standard charging strategies with health-aware optimization-based ones is difficult since they usually provide different charging times: are we willing to charge the battery in more time if this comes with an aging reduction? When a customer is faced with such a question, the answer is not so trivial. For this reason, in this paper we provide health-aware Pseudo Two Dimensional model-based strategies with the same charging time of standard CC-Cv protocols. The results show that significant aging improvements can be obtained, even by constraining the charging time to be the same as the CC-Cv protocol.
Published: 2018

32. HCV infection is a risk factor for gallstone disease in liver cirrhosis: an Italian epidemiological survey

Author: Stroffolini, T., Sagnelli, E., Mele, A., Cottone, C., Almasio, P. L., Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Daria, S., MINOLI, MARIA LAURA, Gazzaniga, V., Segato, S., ORIOLO, MARIA, Parlotto, A., Ghersetti, M., CAPRA, FRANCESCA, Muratori, R., Sama, C., BOCCIA, SARA, Verdianelli, G., PRATICO', ANTONIO, GRANDI, MARIO, VENTURA, ELISA, Cantoni, F., Vincenti, A., Nerli Alessandro, A., Galeazzi, L., SOLINAS, ALICE, Paroli, M., De Sanctis, G. M., Sereno, S., Clementi, C., Visco Comandino, U., Gallo, A. I., Festi, D., Sabusco, G., Coppola, N., Scolastico, C., Onofrio, M., Imparato, M., Filippini, P., Morisco, F., Liberti, A., BORGIA, GIULIO CESARE, Scarpellino, F., Persico, M., Sagnelli, C., COPPOLA, CLAUDIO, Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Frugiuele, P., Ferraro, M., Prestileo, T., Alessandri, A., Russello Maurizio, M., Bellissima, P., Orifici, G., Pisani, G., Angioini, S., Lai, M., Spanneda, M., Stroffolini, T., Sagnelli, E., Mele, A., Cottone, C., Almasio, P.L., Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Daria, S., Minoli, L., Gazzaniga, V., Segato, S., Oriolo, M., Parlotto, A., Ghersetti, M., Capra, F., Muratori, R., Sama, C., Boccia, S., Verdianelli, G., Praticò, A., Grandi, M., Ventura, E., Cantoni, F., Vincenti, A., Nerli Alessandro, A., Galeazzi, L., Solinas, A., Paroli, M., De Sanctis, G.M., Sereno, S., Clementi, C., Visco Comandino, U., Gallo, A.I., Festi, D., Sabusco, G., Coppola, N., Scolastico, C., Onofrio, M., Imparato, M., Filippini, P., Morisco, F., Liberti, A., Borgia, G., Scarpellino, F., Persico, M., Sagnelli, C., Coppola, C., Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Frugiuele, P., Ferraro, M., Prestileo, T., Alessandri, A., Russello Maurizio, M., Bellissima, P., Orifici, G., Pisani, G., Angioini, S., Lai, M., and Spanneda, M.
Subjects: Liver Cirrhosis, Adult, Male, HBsAg, medicine.medical_specialty, Cirrhosis, Alcohol Drinking, Liver Cirrhosi, Gallbladder disease, Prevalence, Infectious Disease, Gallstones, Gastroenterology, Liver disease, Risk Factors, Virology, Internal medicine, HBV, medicine, Humans, Cholecystectomy, Risk factor, Aged, Cirrhosi, Hepatology, business.industry, Risk Factor, Hepatitis C, Hepatitis C, Chronic, Middle Aged, medicine.disease, Infectious Diseases, Italy, Gallstone, HCV, Chronic hepatiti, Female, business, Human
Abstract: We assessed the prevalence of gallbladder disease (i.e. gallstones plus cholecystectomy) among patients with liver disease and its association with the severity and aetiology of hepatic injury. Subjects, referred to 79 Italian hospitals, were enrolled in a 6-month period. The independent effect of the severity and aetiology of liver disease on gallstone disease prevalence was assessed by multiple logistic regression analysis. Overall, 4867 subjects tested anti-hepatitis C virus (HCV) positive alone, 839 were hepatitis B virus surface antigen (HBsAg) alone, and 652 had an excessive alcohol intake. The prevalence of gallstone disease was 23.3% in anti-HCV-positive patients, 12.4% in HBsAg positive and 24.2% in subjects reporting excessive alcohol intake, respectively. Gallstone disease prevalence increased by age in each aetiological category. The proportion of patients with gallstone disease who had a cholecystectomy was the highest in HCV+ subjects. After adjusting for the confounding effect of age and body mass index, compared with patients with less severe liver disease, subjects with HCV-related cirrhosis, but not those with alcohol-related cirrhosis, were more likely to have gallstone disease. Subjects with HCV-related cirrhosis (OR 2.13, 95% CI: 1.38-3.26) were more likely to have gallstone disease when compared with those with HBV-related cirrhosis. HCV infection is a risk factor for gallstone disease. In Italy, the high prevalence of HCV infection among cirrhotic patients has important implications, as cholecystectomy in these subjects is associated with high risk of morbidity and mortality. Â© 2007 The Authors.
Published: 2007

33. The role of modulation of somatostatin analogues (SSAs) in association to peptide receptor radionuclide therapy (PRRT) after SSAs progression disease (PD) in advanced well-differentiated (WD) entero-pancreatic neuroendocrine tumours (EP-NETs)

Author: Prinzi, N., primary, Seregni, E., additional, Raimondi, A., additional, Maccauro, M., additional, Corti, F., additional, Lo Russo, G., additional, Nichetti, F., additional, Torchio, M., additional, Coppa, J., additional, Peverelli, G., additional, Pagani, F., additional, Di Bartolomeo, M., additional, Mazzaferro, V., additional, de Braud, F., additional, and Pusceddu, S., additional
Published: 2018
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34. Post-hoc analysis of CLARINET phase III study to investigate the influence of diabetic status on progression-free survival (PFS) of patients with neuroendocrine tumours (NETs) treated with lanreotide (LAN) or placebo (PBO)

Author: Pusceddu, S., primary, Vernieri, C., additional, Di Maio, M., additional, Prinzi, N., additional, Torchio, M., additional, Buzzoni, R., additional, Truong-Thanh, X.-M., additional, Mazzaferro, V., additional, and de Braud, F.G.M., additional
Published: 2018
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35. Giorgio Barletta 1938-1988

Author: Torchio, M and BioStor
Published: 1989

36. HLA-G Polymorphisms And Outcome Of Allogeneic Stem Cell Transplantation For Metastatic Renal Cell Cancer

Author: Bregni, M., Mazzi, B., Crocchiolo, R., Fleischhauer, K., Torchio, M., Didier Blaise, Bay, J. -O, Barkholt, L., Peccatori, J., and Ciceri, F.
Subjects: Medizin, ComputingMethodologies_GENERAL
Abstract: Poster Abstract
Published: 2016

37. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Author: Bezzina, C, Barc, J, Mizusawa, Y, Remme, C, Gourraud, J, Simonet, F, Verkerk, A, Schwartz, P, Crotti, L, Dagradi, F, Guicheney, P, Fressart, V, Leenhardt, A, Antzelevitch, C, Bartkowiak, S, Borggrefe, M, Schimpf, R, Schulze-Bahr, E, Zumhagen, S, Behr, E, Bastiaenen, R, Tfelt-Hansen, J, Olesen, M, Kääb, S, Beckmann, B, Weeke, P, Watanabe, H, Endo, N, Minamino, T, Horie, M, Ohno, S, Hasegawa, K, Makita, N, Nogami, A, Shimizu, W, Aiba, T, Froguel, P, Balkau, B, Lantieri, O, Torchio, M, Wiese, C, Weber, D, Wolswinkel, R, Coronel, R, Boukens, B, Bézieau, S, Charpentier, E, Chatel, S, Despres, A, Gros, F, Kyndt, F, Lecointe, S, Lindenbaum, P, Portero, V, Violleau, J, Gessler, M, Tan, H, Roden, D, Christoffels, V, Le Marec, H, Wilde, A, Probst, V, Schott, J, Dina, C, Redon, R, Bezzina CR., Barc J., Mizusawa Y., Remme CA., Gourraud JB., Simonet F., Verkerk AO., Schwartz PJ., Crotti L., Dagradi F., Guicheney P., Fressart V., Leenhardt A., Antzelevitch C., Bartkowiak S., Borggrefe M., Schimpf R., Schulze-Bahr E., Zumhagen S., Behr ER., Bastiaenen R., Tfelt-Hansen J., Olesen MS., Kääb S., Beckmann BM., Weeke P., Watanabe H., Endo N., Minamino T., Horie M., Ohno S., Hasegawa K., Makita N., Nogami A., Shimizu W., Aiba T., Froguel P., Balkau B., Lantieri O., Torchio M., Wiese C., Weber D., Wolswinkel R., Coronel R., Boukens BJ., Bézieau S., Charpentier E., Chatel S., Despres A., Gros F., Kyndt F., Lecointe S., Lindenbaum P., Portero V., Violleau J., Gessler M., Tan HL., Roden DM., Christoffels VM., Le Marec H., Wilde AA., Probst V., Schott JJ., Dina C., Redon R., Bezzina, C, Barc, J, Mizusawa, Y, Remme, C, Gourraud, J, Simonet, F, Verkerk, A, Schwartz, P, Crotti, L, Dagradi, F, Guicheney, P, Fressart, V, Leenhardt, A, Antzelevitch, C, Bartkowiak, S, Borggrefe, M, Schimpf, R, Schulze-Bahr, E, Zumhagen, S, Behr, E, Bastiaenen, R, Tfelt-Hansen, J, Olesen, M, Kääb, S, Beckmann, B, Weeke, P, Watanabe, H, Endo, N, Minamino, T, Horie, M, Ohno, S, Hasegawa, K, Makita, N, Nogami, A, Shimizu, W, Aiba, T, Froguel, P, Balkau, B, Lantieri, O, Torchio, M, Wiese, C, Weber, D, Wolswinkel, R, Coronel, R, Boukens, B, Bézieau, S, Charpentier, E, Chatel, S, Despres, A, Gros, F, Kyndt, F, Lecointe, S, Lindenbaum, P, Portero, V, Violleau, J, Gessler, M, Tan, H, Roden, D, Christoffels, V, Le Marec, H, Wilde, A, Probst, V, Schott, J, Dina, C, Redon, R, Bezzina CR., Barc J., Mizusawa Y., Remme CA., Gourraud JB., Simonet F., Verkerk AO., Schwartz PJ., Crotti L., Dagradi F., Guicheney P., Fressart V., Leenhardt A., Antzelevitch C., Bartkowiak S., Borggrefe M., Schimpf R., Schulze-Bahr E., Zumhagen S., Behr ER., Bastiaenen R., Tfelt-Hansen J., Olesen MS., Kääb S., Beckmann BM., Weeke P., Watanabe H., Endo N., Minamino T., Horie M., Ohno S., Hasegawa K., Makita N., Nogami A., Shimizu W., Aiba T., Froguel P., Balkau B., Lantieri O., Torchio M., Wiese C., Weber D., Wolswinkel R., Coronel R., Boukens BJ., Bézieau S., Charpentier E., Chatel S., Despres A., Gros F., Kyndt F., Lecointe S., Lindenbaum P., Portero V., Violleau J., Gessler M., Tan HL., Roden DM., Christoffels VM., Le Marec H., Wilde AA., Probst V., Schott JJ., Dina C., and Redon R.
Abstract: Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10 -68; rs9388451, P = 5.1 × 10 -17) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10 -14). The cumulative effect of the three loci on disease susceptibility was unexpectedly large (P trend = 6.1 × 10 -81). The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia. The implication of association with HEY2, supported by new evidence that Hey2 regulates cardiac electrical activity, shows that Brugada syndrome may originate from altered transcriptional programming during cardiac development. Altogether, our findings indicate that common genetic variation can have a strong impact on the predisposition to rare diseases
Published: 2013

38. Implementation of the International Myeloma Working Group reccomendations on renal impairment in multiple myeloma patients in routine clinical practice

Author: Torchio, M., primary, Cavalli, C., additional, Gazo, A., additional, Bellazzi, R., additional, and Danova, M., additional
Published: 2017
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39. Spectrum and prevalence of mutations involving BrS1-12 susceptibility genes in a cohort of unrelated patients referred for Brugada Syndrome genetic testing: implications for genetic testing

Author: Crotti, L, Marcou, C, Tester, D, Castelletti, S, Giudicessi, J, Torchio, M, Medeiros-Domingo, A, Simone, S, Will, M, Dagradi, F, Schwartz, P, Ackerman, M, Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, Ackerman MJ., Crotti, L, Marcou, C, Tester, D, Castelletti, S, Giudicessi, J, Torchio, M, Medeiros-Domingo, A, Simone, S, Will, M, Dagradi, F, Schwartz, P, Ackerman, M, Crotti L, Marcou CA, Tester DJ, Castelletti S, Giudicessi JR, Torchio M, Medeiros-Domingo A, Simone S, Will ML, Dagradi F, Schwartz PJ, and Ackerman MJ.
Abstract: Objectives: The aim of this study was to provide the spectrum and prevalence of mutations in the 12 Brugada syndrome (BrS)-susceptibility genes discovered to date in a single large cohort of unrelated BrS patients. Background: BrS is a potentially lethal heritable arrhythmia syndrome diagnosed electrocardiographically by coved-type ST-segment elevation in the right precordial leads (V1 to V3; type 1 Brugada electrocardiographic [ECG] pattern) and the presence of a personal/family history of cardiac events. Methods: Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive mutational analysis of BrS1- through BrS12-susceptibility genes was performed in 129 unrelated patients with possible/probable BrS (46 with clinically diagnosed BrS [ECG pattern plus personal/family history of a cardiac event] and 83 with a type 1 BrS ECG pattern only). Results: Overall, 27 patients (21%) had a putative pathogenic mutation, absent in 1,400 Caucasian reference alleles, including 21 patients with an SCN5A mutation, 2 with a CACNB2B mutation, and 1 each with a KCNJ8 mutation, a KCND3 mutation, an SCN1Bb mutation, and an HCN4 mutation. The overall mutation yield was 23% in the type 1 BrS ECG pattern-only patients versus 17% in the clinically diagnosed BrS patients and was significantly greater among young men <20 years of age with clinically diagnosed BrS and among patients who had a prolonged PQ interval. Conclusions: We identified putative pathogenic mutations in ∼20% of our BrS cohort, with BrS genes 2 through 12 accounting for <5%. Importantly, the yield was similar between patients with only a type 1 BrS ECG pattern and those with clinically established BrS. The yield approaches 40% for SCN5A-mediated BrS (BrS1) when the PQ interval exceeds 200 ms. Calcium channel-mediated BrS is extremely unlikely in the absence of a short QT interval
Published: 2012

40. A Hybrid Approach to the Verification of Computer Interpretable Guidelines

Author: Anselma, L., Bottrighi, A., Giordano, L., Hommersom, A.J., Molino, G., Montani, S., Terenziani, P., Torchio, M., Hommersom, Arjen, Lucas, Peter, RS-Research Line Resilience (part of LIRS program), Department Computer Science, Hommersom, Arjen, Lucas, Peter, Hommersom, A., and Lucas, J.F.P.
Subjects: Clinical guidelines, Correctness, business.industry, Process (engineering), Computer science, media_common.quotation_subject, Lecture notes in computer science, Clinical guidelines, artificial intelligence, artificial intelligence, Hybrid approach, Task (project management), 03 medical and health sciences, 0302 clinical medicine, Software Science, Quality (business), 030212 general & internal medicine, Artificial intelligence, business, Software engineering, 030217 neurology & neurosurgery, media_common
Abstract: Computer Interpretable Guidelines (CIGs) are assuming a major role in the medical area, in order to enhance the quality of medical assistance by providing physicians with evidence-based recommendations. However, the complexity of CIGs (which may contain hundreds of related clinical activities) demands for a verification process, aimed at assuring that a CIG satisfies several different types of properties (e.g., verification of the CIG correctness with respect to several criteria). Verification is a demanding task, which may be enhanced through the adoption of advanced Artificial Intelligence techniques. In this paper, we propose a general and hybrid approach to address such a task, suggesting that, given the heterogeneous character of the knowledge in CIGs, different forms of verification should be supported, through the adoption of proper (and different) methodologies.
Published: 2015

41. Fast model predictive control for hydrogen outflow regulation in ethanol steam reformers

Author: Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya. SAC - Sistemes Avançats de Control, Universitat Politècnica de Catalunya. ACES - Control Avançat de Sistemes d'Energia, Torchio, M., Ocampo-Martínez, Carlos, Magni, L., Serra, Maria, Braatz, R. D., Raimondo, D. M., Universitat Politècnica de Catalunya. Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya. SAC - Sistemes Avançats de Control, Universitat Politècnica de Catalunya. ACES - Control Avançat de Sistemes d'Energia, Torchio, M., Ocampo-Martínez, Carlos, Magni, L., Serra, Maria, Braatz, R. D., and Raimondo, D. M.
Abstract: © 20xx IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works., In the recent years, the presence of alternative power sources, such as solar panels, wind farms, hydropumps and hydrogen-based devices, has significantly increased. The reasons of this trend are clear: contributing to a reduction of gas emissions and dependency on fossil fuels. Hydrogen-based devices are of particular interest due to their significant efficiency and reliability. Reforming technologies are among the most economic and efficient ways of producing hydrogen. In this paper we consider the regulation of hydrogen outflow in an ethanol steam reformer (ESR). In particular, a fast model predictive control approach based on a finite step response model of the process is proposed. Simulations performed using a more realistic non-linear model show the effectiveness of the proposed approach in driving the ESR to different operating conditions while fulfilling input and output constraints., Peer Reviewed, Postprint (author's final draft)
Published: 2016

42. 732P - Is MGMT methylation a new therapeutic target for biliary tract cancer?

Author: Niger, M., Morano, F., Manglaviti, S., Nichetti, F., Tamborini, E., Perrone, F., Marcuzzo, M., Peverelli, G., Brambilla, M., Pagani, F., Torchio, M., Ottini, A., Antista, M., Pietrantonio, F., Pusceddu, S., Pruneri, G., Di Bartolomeo, M., and De Braud, F.G.M.
Published: 2019
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43. 712P - MGMT methylation in metastatic pancreatic cancer (mPAC): A single center experience

Author: Niger, M., Morano, F., Manglaviti, S., Nichetti, F., Perrone, F., Tamborini, E., Marcuzzo, M., Raimondi, A., Peverelli, G., Brambilla, M., Pagani, F., Torchio, M., Prisciandaro, M., Antista, M., Pietrantonio, F., Pusceddu, S., Pruneri, G., De Braud, F.G.M., and Di Bartolomeo, M.
Published: 2019
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44. Chronic hepatitis B in Italy: New features of an old disease - Approaching the universal prevalence of hepatitis B e antigen-negative cases and the eradication of hepatitis D infection

Author: Sagnelli, Evangelista, Stroffolini, Tommaso, Mele, Alfonso, Imparato, Michele, Almasio, Piero L., Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Sacchini, D., Minoli, L., Gazzaniga, V., Segato, S., Oriolo, M., Parlotto, A., Ghersetti, M., Capra, F., Muratori, R., Sama, C., Boccia, S., Verdianelli, G., Praticò, A., Grandi, M., Ventura, E., Cantoni, F., Vincenti, A., Nerli Alessandro, A., Galeazzi, L., Solinas, A., Paroli, M., De Sanctis, G. M., Sereno, S., Clementi, C., Visco Comandino, U., Gallo, A. I., Festi, D., Sabusco, G., Coppola, N., Scolastico, C., Onofrio, M., Filippini, P., Morisco, F., Liberti, A., Borgia, G., Scarpellino, F., Persico, M., Sagnelli, C., Coppola, C., Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Frugiuele, P., Ferraro, M., Prestileo, T., Alessandri, A., Russello, M., Bellissima, P., Orifici, G., Pisani, G., Angioini, S., Lai, M., Spanneda, M., Sagnelli, Evangelista, Stroffolini, Tommaso, Mele, Alfonso, Imparato, Michele, Almasio, Piero L., Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Sacchini, D., Minoli, L., Gazzaniga, V., Segato, S., Oriolo, M., Parlotto, A., Ghersetti, M., Capra, F., Muratori, R., Sama, C., Boccia, S., Verdianelli, G., Praticò, A., Grandi, M., Ventura, E., Cantoni, F., Vincenti, A., Nerli Alessandro, A., Galeazzi, L., Solinas, A., Paroli, M., De Sanctis, G.M., Sereno, S., Clementi, C., Visco Comandino, U., Gallo, A.I., Festi, D., Sabusco, G., Coppola, N., Scolastico, C., Onofrio, M., Filippini, P., Morisco, F., Liberti, A., Borgia, G., Scarpellino, F., Persico, M., Sagnelli, C., Coppola, C., Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Frugiuele, P., Ferraro, M., Prestileo, T., Alessandri, A., Russello, M., Bellissima, P., Orifici, G., Pisani, G., Angioini, S., Lai, M., and Spanneda, M.
Subjects: Liver Cirrhosis, Adult, Male, Microbiology (medical), medicine.medical_specialty, Cirrhosis, Adolescent, Hepatitis D, Chronic, Hepatitis C virus, Hepacivirus, Liver Cirrhosi, medicine.disease_cause, Gastroenterology, Virus, Flaviviridae, Hepatitis B, Chronic, Seroepidemiologic Studies, Internal medicine, medicine, Humans, Hepatitis B e Antigens, Aged, Aged, 80 and over, Cross-Sectional Studie, Hepaciviru, biology, business.industry, Seroepidemiologic Studie, Hepatitis Delta Viru, Hepatitis B, Middle Aged, medicine.disease, biology.organism_classification, Hepatitis D, Virology, Alcoholism, Cross-Sectional Studies, Infectious Diseases, Italy, Disease Progression, Female, Hepatitis B e Antigen, Hepatitis D virus, Hepatitis Delta Virus, business, Human
Abstract: We evaluated 1336 hepatitis B surface antigen-positive subjects consecutively observed in 79 Italian hospitals over a 6-month period. The proportion of hepatitis B e antigen-negative cases was 86.4%, that of patients coinfected with hepatitis D virus was 9.7%, and the rate of patients coinfected with hepatitis C virus was 16.8%. Multiple logistic regression analysis showed that age >49 years, alcohol abuse, and anti-hepatitis D virus and anti-hepatitis C virus positivity were independent predictors of progression to liver cirrhosis. Â© 2007 by the Infectious Diseases Society of America. All rights reserved.
Published: 2008

45. Validation of ICTERUS, a Knowledge-based Expert System for Jaundice Diagnosis

Author: M. Marzuoli, Stefania Battista, F. Bar, S M Lavelle, Torchio M, F Molino, Gianpaolo Molino, G Corless, and Nazario Cappello
Subjects: Advanced and Specialized Nursing, Decision support system, Operations research, business.industry, MEDLINE, Health Informatics, Diagnostic accuracy, Jaundice, computer.software_genre, Expert system, Health Information Management, Risk analysis (engineering), Knowledge base, medicine, Systems design, medicine.symptom, business, computer, Reliability (statistics)
Abstract: The study aimed to describe an example of the assessment and validation of knowledge-based clinical expert systems. The paper focuses on ICTERUS, an expert system for jaundice diagnosis. It describes system design, the methodology applied for upgrading and validating the program, and the most important outcomes of the validation procedure. The clinical validation of the system on a very large European database (Euricterus Project) shows that diagnostic conclusions are reliable in about 70% of eligible cases. This figure appears acceptable for a system which provides decision support only on the basis of clinical data, assuming that the final decision is achieved under user responsibility. Expected biases, limitations and inconsistencies in the practical application of the system are discussed.
Published: 2000

46. The association between infections and the outcome of chemotherapy programs for colorectal cancer patients

Author: Torchio, M., primary, Olgiati, A., additional, Cavalli, C., additional, Zanirato, S., additional, Previde Massara, P., additional, Sansalone, C.V., additional, and Danova, M., additional
Published: 2016
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47. Optical Detection Of Tumour Cell Aggressiveness By Means Of 3D Silicon Micromachined Structures

Author: Merlo, S., primary, Melloni, F., additional, Carpignano, F., additional, Torchio, M., additional, Danova, M., additional, Panini, N., additional, Erba, E., additional, Surdo, S., additional, Barillaro, G., additional, Aredia, F., additional, Scovassi, A.I., additional, and Mazzini, G., additional
Published: 2016
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48. The importance of HCV on the burden of chronic liver disease in Italy: a multicenter prevalence study of 9,997 cases

Author: Sagnelli, Evangelista, Stroffolini, Tommaso, Mele, Alfonso, Almasio, Piero, Coppola, Nicola, Ferrigno, Luigina, Scolastico, Carlo, Onofrio, Mirella, Imparato, Michele, Filippini, Pietro, Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Sacchini, D., Minoli, L., Gazzaniga, V., Segato, S., Oriolo, M., Parlotto, A., Ghersetti, M., Capra, F., Muratori, R., Sama, C., Boccia, S., Verdianelli, G., Praticò, A., Grandi, M., Ventura, E., Cantoni, F., Vincenti, A., Nerli, A., Galeazzi, L., Solinas, A., Paroli, M., De Sanctis, G. M., Sereno, S., Clementi, C., Comandino, U. Visco, Gallo, A. I., Festi, D., Sabusco, G., Morisco, F., Liberti, A., Borgia, G., Scarpellino, F., Persico, M., Sagnelli, C., Coppola, C., Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Furgiuele, P. L., Ferraro, M., Prestileo, T., Alessandri, A., Russello, M., Bellissima, P., Orifici, G., Pisani, G., Angioni, S., Lai, M., Spanneda, M., SAGNELLI E, STROFFOLINI T, MELE A, ALMASIO PL, COPPOLA N, FERRIGNO L, SCOLASTICO C, ONOFRIO M, IMPARATO M, FILIPPINI P, Sagnelli, Evangelista, Stroffolini, Tommaso, Mele, Alfonso, Almasio, Piero, Coppola, Nicola, Ferrigno, Luigina, Scolastico, Carlo, Onofrio, Mirella, Imparato, Michele, Filippini, Pietro, Traverso, A., Arrigoni, A., Torchio, M., Garbagnoli, P., Del Mastro, B., Romano, P., Vanni, R., Brusita, D., Meucci, P., Cassola, G., Borzio, M., Bellobuono, A., De Bona, A., Re, T., Del Poggio, P., Baisini, O., Colombo, A., Attolini, C., Sacchini, D., Minoli, L., Gazzaniga, V., Segato, S., Oriolo, M., Parlotto, A., Ghersetti, M., Capra, F., Muratori, R., Sama, C., Boccia, S., Verdianelli, G., Praticò, A., Grandi, M., Ventura, E., Cantoni, F., Vincenti, A., Nerli, A., Galeazzi, L., Solinas, A., Paroli, M., De Sanctis, G.M., Sereno, S., Clementi, C., Comandino, U. Visco, Gallo, A.I., Festi, D., Sabusco, G., Morisco, F., Liberti, A., Borgia, G., Scarpellino, F., Persico, M., Sagnelli, C., Coppola, C., Caserta, L., Elia, A., De Vita, G., Lanzotti, A., Pizzolante, L., Messina, V., Fiore, G., Agostinacchio, E., Santantonio, T., Mazzola, M., Vinelli, F., Campagna, A., Cataldini, S., Monelli, I., Lascaro, M., Polimeri, N., Furgiuele, P.L., Ferraro, M., Prestileo, T., Alessandri, A., Russello, M., Bellissima, P., Orifici, G., Pisani, G., Angioni, S., Lai, M., and Spanneda, M.
Subjects: Adult, Liver Cirrhosis, Male, Hepatitis B virus, HBsAg, Carcinoma, Hepatocellular, Cirrhosis, alcohol abuse, Hepatitis C virus, Hepacivirus, Chronic liver disease, medicine.disease_cause, Risk Factors, Virology, Prevalence, medicine, HBV, Humans, Aged, business.industry, Incidence, Liver Diseases, Liver Neoplasms, Hepatitis C, Middle Aged, Hepatitis B, medicine.disease, Alcoholism, Infectious Diseases, Italy, Hepatocellular carcinoma, Chronic Disease, HCV, Female, Viral hepatitis, business
Abstract: Knowledge of the current epidemiology of chronic liver disease in Italy is mostly obsolete and fragmentary for the lack of up-to-date consistent data. In 2001, a 6-month prevalence study was undertaken in 79 hospitals to assess the characteristics of chronic liver disease in Italy. Both prevalent and incident cases were enrolled. A total of 9,997 patients were recruited, of whom 939 (9.4%) had normal liver biochemistry, 6,210 (62.1%) had chronic hepatitis, 1,940 (19.4%) had liver cirrhosis, and 341 (3.4%) had hepatocellular carcinoma (HCC). In 567 patients (5.7%) the diagnosis was not established. Hepatitis C virus (HCV) was found in 69.9% of the patients and was the only etiological factor in 56.3% of all the patients. Hepatitis B surface antigen (HBsAg) was present in the serum of 13.4% of the cases (in 10% it was the only etiological factor). A history of alcohol abuse was found in 23% of the cases (9.4% without viral infection). The prevalence of HCV-related cases was significantly lower in incident than in prevalent cases (44.9% vs. 59.9%, P < 0.0001), while the proportion of patients with alcohol abuse was much higher in incident than in prevalent cases (18.1% vs. 6.6%, P < 0.0001). These findings indicate that nearly one quarter of patients with chronic liver diseases in Italy have a severe disease such as liver cirrhosis and HCC represents a not negligible burden for the national health system. Hepatitis B fell in importance as an etiological factor. Hepatitis C is the important pathogenic factor for chronic liver disease in Italy. However, a comparison between the prevalent and incident cases suggests that in future HCV infection will also play a progressively decreasing role, in part as a consequence of treatment. Â© 2005 Wiley-Liss, Inc.
Published: 2005

49. A Hybrid Approach to the Verification of Computer Interpretable Guidelines

Author: Hommersom, A., Lucas, J.F.P., Anselma, L., Bottrighi, A., Giordano, L., Hommersom, A.J., Molino, G., Montani, S., Terenziani, P., Torchio, M., Hommersom, A., Lucas, J.F.P., Anselma, L., Bottrighi, A., Giordano, L., Hommersom, A.J., Molino, G., Montani, S., Terenziani, P., and Torchio, M.
Abstract: Item does not contain fulltext
Published: 2015

50. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study

Author: Behr, E, Savio-Galimberti, E, Barc, J, Holst, A, Petropoulou, E, Prins, B, Jabbari, J, Torchio, M, Berthet, M, Mizusawa, Y, Yang, T, Nannenberg, E, Dagradi, F, Weeke, P, Bastiaenan, R, Ackerman, M, Haunso, S, Leenhardt, A, Kääb, S, Probst, V, Redon, R, Sharma, S, Wilde, A, Tfelt-Hansen, J, Schwartz, P, Roden, D, Bezzina, C, Olesen, M, Darbar, D, Guicheney, P, Crotti, L, Jamshidi, Y, Holst, AG, Behr, E, Savio-Galimberti, E, Barc, J, Holst, A, Petropoulou, E, Prins, B, Jabbari, J, Torchio, M, Berthet, M, Mizusawa, Y, Yang, T, Nannenberg, E, Dagradi, F, Weeke, P, Bastiaenan, R, Ackerman, M, Haunso, S, Leenhardt, A, Kääb, S, Probst, V, Redon, R, Sharma, S, Wilde, A, Tfelt-Hansen, J, Schwartz, P, Roden, D, Bezzina, C, Olesen, M, Darbar, D, Guicheney, P, Crotti, L, Jamshidi, Y, and Holst, AG
Abstract: Aims: Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. Methods and results: A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBX3, and TBX5) in 156 Caucasian SCN5A mutation-negative BrS patients (80% male; mean age 48) with symptoms (64%) and/or a family history of sudden death (47%) or BrS (18%). Forty-nine variants were identified: 18 were rare (MAF <1%) and non-synonymous; and 11/18 (61.1%), mostly in SCN10A, were predicted as pathogenic using multiple bioinformatics tools. Allele frequencies were compared with the Exome Sequencing and UK10K Projects. SKAT methods tested rare variation in SCN10A finding no statistically significant difference between cases and controls. Co-segregation analysis was possible for four of seven probands carrying a novel pathogenic variant. Only one pedigree (I671V/G1299A in SCN10A) showed co-segregation. The SCN10A SNP V1073 was, however, associated strongly with BrS [66.9 vs. 40.1% (UK10K) OR (95% CI) = 3.02 (2.35-3.87), P = 8.07 × 10-19]. Voltage-clamp experiments for NaV1.8 were performed for SCN10A common variants V1073, A1073, and rare variants of interest: A200V and I671V. V1073, A200V and I671V, demonstrated significant reductions in peak INa compared with ancestral allele A1073 (rs6795970). Conclusion: Rare variants in the screened QRS-associated genes (including SCN10A) are not responsible for a significant proportion of SCN5A mutation negative BrS. The common SNP SCN10A V1073 was strongly associated with BrS and demonstrated loss of NaV1.8 function, as did rare variants in isolated patients.
Published: 2015

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