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1. Impact of SARS-CoV-2 Omicron and Delta variants in patients requiring intensive care unit (ICU) admission for COVID-19, Northern Italy, December 2021 to January 2022

Author

Piralla, A, Mojoli, F, Pellegrinelli, L, Ceriotti, F, Valzano, A, Grasselli, G, Gismondo, M, Micheli, V, Castelli, A, Farina, C, Arosio, M, Lorini, F, Fanti, D, Busni, A, Laratta, M, Maggi, F, Novazzi, F, Cabrini, L, Callegaro, A, Keim, R, Remuzzi, G, Cavallero, A, Malandrin, S, Rona, R, Giardina, F, Ferrari, G, Zavaglio, F, D'Angelo, P, Galli, C, Bubba, L, Binda, S, Oggioni, M, Uceda Renteria, S, Bono, P, Baj, A, Ferrante, F, Guarneri, D, Tonelli, M, Napolitano, G, Nava, A, Romeo, L, Nicolini, E, Valaperta, R, Varisano, L, Mele, C, Liguori, L, Raggi, M, Mongodi, S, Pagani, M, Severgnini, P, Gasberti, D, Bonanomi, E, Gritti, P, Marrazzo, F, Giovannini, I, Sacchi, N, Sagliocco, O, Cereda, D, Buoro, S, Baldanti, F, Pariani, E, Piralla A, Mojoli F, Pellegrinelli L, Ceriotti F, Valzano A, Grasselli G, Gismondo MR, Micheli V, Castelli A, Farina C, Arosio M, Lorini F, Fanti D, Busni A, Laratta M, Maggi F, Novazzi F, Cabrini L, Callegaro AP, Keim R, Remuzzi G, Cavallero A, Malandrin SMI, Rona R, Giardina F, Ferrari G, Zavaglio F, D'angelo P, Galli C, Bubba L, Binda S, Oggioni M, Uceda Renteria SC, Bono P, Baj A, Ferrante FD, Guarneri D, Tonelli M, Napolitano G, Nava A, Romeo L, Nicolini E, Valaperta R, Varisano L, Mele C, Liguori L, Raggi M, Mongodi S, Pagani M, Severgnini P, Gasberti D, Bonanomi E, Gritti P, Marrazzo F, Giovannini I, Sacchi N, Sagliocco O, Cereda D, Buoro S, Baldanti F, Pariani E., Piralla, A, Mojoli, F, Pellegrinelli, L, Ceriotti, F, Valzano, A, Grasselli, G, Gismondo, M, Micheli, V, Castelli, A, Farina, C, Arosio, M, Lorini, F, Fanti, D, Busni, A, Laratta, M, Maggi, F, Novazzi, F, Cabrini, L, Callegaro, A, Keim, R, Remuzzi, G, Cavallero, A, Malandrin, S, Rona, R, Giardina, F, Ferrari, G, Zavaglio, F, D'Angelo, P, Galli, C, Bubba, L, Binda, S, Oggioni, M, Uceda Renteria, S, Bono, P, Baj, A, Ferrante, F, Guarneri, D, Tonelli, M, Napolitano, G, Nava, A, Romeo, L, Nicolini, E, Valaperta, R, Varisano, L, Mele, C, Liguori, L, Raggi, M, Mongodi, S, Pagani, M, Severgnini, P, Gasberti, D, Bonanomi, E, Gritti, P, Marrazzo, F, Giovannini, I, Sacchi, N, Sagliocco, O, Cereda, D, Buoro, S, Baldanti, F, Pariani, E, Piralla A, Mojoli F, Pellegrinelli L, Ceriotti F, Valzano A, Grasselli G, Gismondo MR, Micheli V, Castelli A, Farina C, Arosio M, Lorini F, Fanti D, Busni A, Laratta M, Maggi F, Novazzi F, Cabrini L, Callegaro AP, Keim R, Remuzzi G, Cavallero A, Malandrin SMI, Rona R, Giardina F, Ferrari G, Zavaglio F, D'angelo P, Galli C, Bubba L, Binda S, Oggioni M, Uceda Renteria SC, Bono P, Baj A, Ferrante FD, Guarneri D, Tonelli M, Napolitano G, Nava A, Romeo L, Nicolini E, Valaperta R, Varisano L, Mele C, Liguori L, Raggi M, Mongodi S, Pagani M, Severgnini P, Gasberti D, Bonanomi E, Gritti P, Marrazzo F, Giovannini I, Sacchi N, Sagliocco O, Cereda D, Buoro S, Baldanti F, and Pariani E.

Abstract

This multicenter observational study included 171 COVID-19 adult patients hospitalized in the ICUs of nine hospitals in Lombardy (Northern Italy) from December, 1st 2021, to February, 9th 2022. During the study period, the Delta/Omicron variant ratio of cases decreased with a delay of two weeks in ICU patients compared to that in the community; a higher proportion of COVID-19 unvaccinated patients was infected by Delta than by Omicron whereas a higher rate of COVID-19 boosted patients was Omicron-infected. A higher number of comorbidities and a higher comorbidity score in ICU critically COVID-19 inpatients was positively associated with the Omicron infection as well in vaccinated individuals. Although people infected by Omicron have a lower risk of severe disease than those infected by Delta variant, the outcome, including the risk of ICU admission and the need for mechanical ventilation due to infection by Omicron versus Delta, remains uncertain. The continuous monitoring of the circulating SARS-CoV-2 variants remains a milestone to counteract this pandemic.

Published
2023

2. Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study

Author

Camporeale, A, Bandera, F, Pieroni, M, Pieruzzi, F, Spada, M, Bersano, A, Econimo, L, Lanzillo, C, Rubino, M, Mignani, R, Motta, I, Olivotto, I, Tanini, I, Valaperta, R, Chow, K, Baroni, I, Boveri, S, Graziani, F, Pica, S, Tondi, L, Guazzi, M, Lombardi, M, Camporeale A., Bandera F., Pieroni M., Pieruzzi F., Spada M., Bersano A., Econimo L., Lanzillo C., Rubino M., Mignani R., Motta I., Olivotto I., Tanini I., Valaperta R., Chow K., Baroni I., Boveri S., Graziani F., Pica S., Tondi L., Guazzi M., Lombardi M., Camporeale, A, Bandera, F, Pieroni, M, Pieruzzi, F, Spada, M, Bersano, A, Econimo, L, Lanzillo, C, Rubino, M, Mignani, R, Motta, I, Olivotto, I, Tanini, I, Valaperta, R, Chow, K, Baroni, I, Boveri, S, Graziani, F, Pica, S, Tondi, L, Guazzi, M, Lombardi, M, Camporeale A., Bandera F., Pieroni M., Pieruzzi F., Spada M., Bersano A., Econimo L., Lanzillo C., Rubino M., Mignani R., Motta I., Olivotto I., Tanini I., Valaperta R., Chow K., Baroni I., Boveri S., Graziani F., Pica S., Tondi L., Guazzi M., and Lombardi M.

Abstract

Background: A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess the effect of migalastat on FD cardiac involvement, combining LV morphology and tissue characterisation by cardiac magnetic resonance (CMR) with cardiopulmonary exercise testing (CPET). Methods: Sixteen treatment-naïve patients with FD (4 women, 46.4±16.2 years) with cardiac involvement (reduced T1 values on CMR and/or LV hypertrophy) underwent ECG, echocardiogram, troponin T and NT-proBNP (N-Terminal prohormone of Brain Natriuretic Peptide) assay, CMR with T1 mapping, and CPET before and after 18 months of migalastat. Results: No change in LV mass was detected at 18 months compared to baseline (95.2 g/m2 (66.0-184.0) vs 99.0 g/m2 (69.0-121.0), p=0.55). Overall, there was an increase in septal T1 of borderline significance (870.0 ms (848-882) vs 860.0 ms (833.0-875.0), p=0.056). Functional capacity showed an increase in oxygen consumption (VO2) at anaerobic threshold (15.50 mL/kg/min (13.70-21.50) vs 14.50 mL/kg/min (11.70-18.95), p=0.02), and a trend towards an increase in percent predicted peak VO2 (72.0 (63.0-80.0) vs 69.0 (53.0-77.0), p=0.056) was observed. The subset of patients who showed an increase in T1 value and a reduction in LV mass (n=7, 1 female, age 40.5 (28.6-76.0)) was younger and at an earlier disease stage compared to the others, and also exhibited greater improvement in exercise tolerance. Conclusion: In treatment-naïve FD patients with cardiac involvement, 18-month treatment with migalastat stabilised LV mass and was associated with a trend towards an improvement in exercise tolerance. A tendency to T1 increase was detected by CMR. The subset of patients who had significant benefits from the treatment showed an earlier cardiac disease compared to the others. Trial registration number: NCT03838237.

Published
2023

6. Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study

Author

Camporeale, Antonia, Bandera, F., Pieroni, M., Pieruzzi, F., Spada, Marina, Bersano, A., Econimo, L., Lanzillo, C., Rubino, M., Mignani, R., Motta, I., Olivotto, I., Tanini, I., Valaperta, R., Chow, K., Baroni, I., Boveri, S., Graziani, Francesca, Pica, S., Tondi, L., Guazzi, M., Lombardi, M., Camporeale A., Spada M., Graziani F. (ORCID:0000-0002-4520-5689), Camporeale, Antonia, Bandera, F., Pieroni, M., Pieruzzi, F., Spada, Marina, Bersano, A., Econimo, L., Lanzillo, C., Rubino, M., Mignani, R., Motta, I., Olivotto, I., Tanini, I., Valaperta, R., Chow, K., Baroni, I., Boveri, S., Graziani, Francesca, Pica, S., Tondi, L., Guazzi, M., Lombardi, M., Camporeale A., Spada M., and Graziani F. (ORCID:0000-0002-4520-5689)

Abstract

Background: A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess the effect of migalastat on FD cardiac involvement, combining LV morphology and tissue characterisation by cardiac magnetic resonance (CMR) with cardiopulmonary exercise testing (CPET). Methods: Sixteen treatment-naïve patients with FD (4 women, 46.4±16.2 years) with cardiac involvement (reduced T1 values on CMR and/or LV hypertrophy) underwent ECG, echocardiogram, troponin T and NT-proBNP (N-Terminal prohormone of Brain Natriuretic Peptide) assay, CMR with T1 mapping, and CPET before and after 18 months of migalastat. Results: No change in LV mass was detected at 18 months compared to baseline (95.2 g/m2 (66.0-184.0) vs 99.0 g/m2 (69.0-121.0), p=0.55). Overall, there was an increase in septal T1 of borderline significance (870.0 ms (848-882) vs 860.0 ms (833.0-875.0), p=0.056). Functional capacity showed an increase in oxygen consumption (VO2) at anaerobic threshold (15.50 mL/kg/min (13.70-21.50) vs 14.50 mL/kg/min (11.70-18.95), p=0.02), and a trend towards an increase in percent predicted peak VO2 (72.0 (63.0-80.0) vs 69.0 (53.0-77.0), p=0.056) was observed. The subset of patients who showed an increase in T1 value and a reduction in LV mass (n=7, 1 female, age 40.5 (28.6-76.0)) was younger and at an earlier disease stage compared to the others, and also exhibited greater improvement in exercise tolerance. Conclusion: In treatment-naïve FD patients with cardiac involvement, 18-month treatment with migalastat stabilised LV mass and was associated with a trend towards an improvement in exercise tolerance. A tendency to T1 increase was detected by CMR. The subset of patients who had significant benefits from the treatment showed an earlier cardiac disease compared to the others. Trial registration number: NCT03838237.

Published
2023

12. SCN4A as modifier gene in myotonic dystrophy type 2 (DM2) patients with early and severe myotonia

Author

BINDA, ANNA, RIVOLTA, ILARIA, Cardani, R, Renna, LV, Fossati, B, Bosè, F, Botta, A, Valaperta, R, Meola, G, Binda, A, Cardani, R, Renna, L, Fossati, B, Bosè, F, Botta, A, Valaperta, R, Meola, G, and Rivolta, I

Subjects
Myotonic dystrophy type 2, SCN4A, patch clamp, BIO/09 - FISIOLOGIA
Abstract

Myotonia, mild and inconsistent in DM2, has been correlated with the disruption of the alternative splicing of CLCN1. Mutations in CLCN1 and SCN4A genes can act as modifiers in these patients leading to an amplification of their myotonic symptoms. A DM2 patient with an early severe myotonia came to our attention. No mutation was found on CLCN1 gene, but SCN4A gene showed G2717C base exchange, a variant considered a benign polymorphism. In the proband mother, also affected by DM2 but without the SCN4A polymorphism, no clinical myotonia was observed. The aim of the study was to compare the sodium current properties in myoblasts and the action potential features in myotubes derived from the proband and his mother muscle biopsies. Patch clamp was used for electrophysiological recordings. Preliminary results in myoblasts showed no change in the steady state activation properties but a significant shift in its availability curve (V1/2 -74±0,2 mV n=8 and V1/2 -79±0,2 mV n=9 proband and mother respectively); in myotubes, the minimum current necessary to elicit an action potential was lower in the proband than in his mother (272±6 pA n=9 and 462±130 pA, n=6), respectively. In conclusion we suggest that: SCN4A polymorphism may induce a more excitable substrate potentially aggravating the effect of the DM2 mutations; that SCN4A gene screening should be performed in DM2 patients with early and severe myotonia without mutations in CLCN1 gene, and finally that the detection of modifying factors may have important clinical implication such as the identification of appropriate drug treatment

Published
2017

13. Dysregulation of circular RNAs in myotonic dystrophy type 1

Author

Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L. V., Longo, M., Sain, S. B., Cardani, R., Valaperta, R., Silvestri, Gabriella, Legnini, I., Bozzoni, I., Furling, D., Gaetano, C., Falcone, G., Meola, G., Martelli, F., Silvestri G. (ORCID:0000-0002-1950-1468), Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L. V., Longo, M., Sain, S. B., Cardani, R., Valaperta, R., Silvestri, Gabriella, Legnini, I., Bozzoni, I., Furling, D., Gaetano, C., Falcone, G., Meola, G., Martelli, F., and Silvestri G. (ORCID:0000-0002-1950-1468)

Abstract

Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by “back-splicing”, which is the linking covalently of 3′- and 5′-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence indicates their role in human diseases. Specifically, myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the DMPK gene which results in abnormal mRNA-splicing. In this investigation, circRNAs expressed in DM1 skeletal muscles were identified by analyzing RNA-sequencing data-sets followed by qPCR validation. In muscle biopsies, out of nine tested, four transcripts showed an increased circular fraction: CDYL, HIPK3, RTN4_03, and ZNF609. Their circular fraction values correlated with skeletal muscle strength and with splicing biomarkers of disease severity, and displayed higher values in more severely affected patients. Moreover, Receiver-Operating-Characteristics curves of these four circRNAs discriminated DM1 patients from controls. The identified circRNAs were also detectable in peripheral-blood-mononuclear-cells (PBMCs) and the plasma of DM1 patients, but they were not regulated significantly. Finally, increased circular fractions of RTN4_03 and ZNF609 were also observed in differentiated myogenic cell lines derived from DM1 patients. In conclusion, this pilot study identified circRNA dysregulation in DM1 patients.

Published
2019

15. SCN4A as modifier gene in patients with myotonic dystrophy type 2

Author

Binda, A, Renna, L, Bose', F, Brigonzi, E, Botta, A, Valaperta, R, Fossati, B, Rivolta, I, Meola, G, Cardani, R, Binda, Anna, Renna, Laura V., BOSE', FRANCESCA, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, Cardani, Rosanna, Binda, A, Renna, L, Bose', F, Brigonzi, E, Botta, A, Valaperta, R, Fossati, B, Rivolta, I, Meola, G, Cardani, R, Binda, Anna, Renna, Laura V., BOSE', FRANCESCA, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, and Cardani, Rosanna

Abstract

A patient with an early severe myotonia diagnosed for Myotonic Dystrophy type 2 (DM2) was found bearing the combined effects of DM2 mutation and Nav1.4 S906T substitution. To investigate the mechanism underlying his atypical phenotype,whole-cell patch-clamp in voltage- and current-clamp mode was performed in myoblasts and myotubes obtained from his muscle biopsy. Results characterizing the properties of the sodium current and of the action potentials have been compared to those obtained in muscle cells derived from his mother, also affected by DM2, but without the S906T polymorphism. A faster inactivation kinetics and a +5 mV shift in the availability curve were found in the sodium current recorded in patient’s myoblasts compared to his mother. 27% of his myotubes displayed spontaneous activity. Patient’s myotubes showing a stable resting membrane potential had a lower rheobase current respect to the mother’s while the overshoot and the maximum slope of the depolarizing phase of action potential were higher. These findings suggest that SCN4A polymorphisms may be responsible for a higher excitability of DM2 patients sarcolemma, supporting the severe myotonic phenotype observed. We suggest SCN4A as a modifier factor and that its screening should be performed in DM2 patients with uncommon clinical features

Published
2018

17. Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Author

Perfetti, A., Greco, S., Cardani, R., Fossati, B., Cuomo, G., Valaperta, R., Ambrogi, F., Cortese, A., Botta, A., Mignarri, A., Santoro, M., Gaetano, C., Costa, E., Dotti, M. T., Silvestri, Gabriella, Massa, R., Meola, G., Martelli, F., Silvestri G. (ORCID:0000-0002-1950-1468), Perfetti, A., Greco, S., Cardani, R., Fossati, B., Cuomo, G., Valaperta, R., Ambrogi, F., Cortese, A., Botta, A., Mignarri, A., Santoro, M., Gaetano, C., Costa, E., Dotti, M. T., Silvestri, Gabriella, Massa, R., Meola, G., Martelli, F., and Silvestri G. (ORCID:0000-0002-1950-1468)

Published
2017

18. SCN4A as modifier gene in myotonic dystrophy type 2 (DM2) patients with early and severe myotonia

Author

Binda, A, Cardani, R, Renna, L, Fossati, B, Bosè, F, Botta, A, Valaperta, R, Meola, G, Rivolta, I, BINDA, ANNA, RIVOLTA, ILARIA, Renna, LV, Binda, A, Cardani, R, Renna, L, Fossati, B, Bosè, F, Botta, A, Valaperta, R, Meola, G, Rivolta, I, BINDA, ANNA, RIVOLTA, ILARIA, and Renna, LV

Abstract

Myotonia, mild and inconsistent in DM2, has been correlated with the disruption of the alternative splicing of CLCN1. Mutations in CLCN1 and SCN4A genes can act as modifiers in these patients leading to an amplification of their myotonic symptoms. A DM2 patient with an early severe myotonia came to our attention. No mutation was found on CLCN1 gene, but SCN4A gene showed G2717C base exchange, a variant considered a benign polymorphism. In the proband mother, also affected by DM2 but without the SCN4A polymorphism, no clinical myotonia was observed. The aim of the study was to compare the sodium current properties in myoblasts and the action potential features in myotubes derived from the proband and his mother muscle biopsies. Patch clamp was used for electrophysiological recordings. Preliminary results in myoblasts showed no change in the steady state activation properties but a significant shift in its availability curve (V1/2 -74±0,2 mV n=8 and V1/2 -79±0,2 mV n=9 proband and mother respectively); in myotubes, the minimum current necessary to elicit an action potential was lower in the proband than in his mother (272±6 pA n=9 and 462±130 pA, n=6), respectively. In conclusion we suggest that: SCN4A polymorphism may induce a more excitable substrate potentially aggravating the effect of the DM2 mutations; that SCN4A gene screening should be performed in DM2 patients with early and severe myotonia without mutations in CLCN1 gene, and finally that the detection of modifying factors may have important clinical implication such as the identification of appropriate drug treatment

Published
2017

19. Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Author

Perfetti, A., primary, Greco, S., additional, Cardani, R., additional, Fossati, B., additional, Cuomo, G., additional, Valaperta, R., additional, Ambrogi, F., additional, Cortese, A., additional, Botta, A., additional, Mignarri, A., additional, Santoro, M., additional, Gaetano, C., additional, Costa, E., additional, Dotti, M. T., additional, Silvestri, G., additional, Massa, R., additional, Meola, G., additional, and Martelli, F., additional

Published
2017
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20. Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Author

Perfetti, A., Greco, S., Cardani, R., Fossati, B., Cuomo, G., Valaperta, R., Ambrogi, F., Cortese, A., Botta, A., Mignarri, A., Santoro, M., Gaetano, C., Costa, E., Dotti, M. T., Silvestri, Gabriella, Massa, R., Meola, G., Martelli, F., Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Perfetti, A., Greco, S., Cardani, R., Fossati, B., Cuomo, G., Valaperta, R., Ambrogi, F., Cortese, A., Botta, A., Mignarri, A., Santoro, M., Gaetano, C., Costa, E., Dotti, M. T., Silvestri, Gabriella, Massa, R., Meola, G., Martelli, F., and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)

Abstract

Non-invasive and simple to measure biomarkers are still an unmet need for myotonic dystrophy type 1 (DM1). Indeed, muscle biopsies can be extremely informative, but their invasive nature limits their application. Extracellular microRNAs are emerging humoral biomarkers and preliminary studies identified a group of miRNAs that are deregulated in the plasma or serum of small groups of DM1 patients. Here we adopted very stringent selection and normalization criteria to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We confirmed that 8 miRNAs out of 12 were significantly deregulated in DM1 patients: miR-1, miR-27b, miR-133a, miR-133b, miR-206, miR-140-3p, miR-454 and miR-574. The levels of these miRNAs, alone or in combination, discriminated DM1 from controls significantly, and correlated with both skeletal muscle strength and creatine kinase values. Interestingly, miR-133b levels were significantly higher in DM1 female patients. Finally, the identified miRNAs were also deregulated in the plasma of a small group (n = 30) of DM2 patients. In conclusion, this study proposes that miRNAs might be useful as DM1 humoral biomarkers.

Published
2016

21. Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

Author

Perfetti, A., primary, Greco, S., additional, Cardani, R., additional, Fossati, B., additional, Cuomo, G., additional, Valaperta, R., additional, Ambrogi, F., additional, Cortese, A., additional, Botta, A., additional, Mignarri, A., additional, Santoro, M., additional, Gaetano, C., additional, Costa, E., additional, Dotti, M. T., additional, Silvestri, G., additional, Massa, R., additional, Meola, G., additional, and Martelli, F., additional

Published
2016
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22. ORAL AB QUICK FIRE I1496Myocardial substrates underlyng early ventricular arrhythmias in st-elevation acute myocardial infarction: the role of cardiac magnetic resonance1416Cardiac magnetic resonance predicts atrial fibrillation occurrence in patients with hypertrophic cardiomyopathy1469T1 and T2 mapping cardiovascular magnetic resonance to monitor inflammatory activity in patients with myocarditis1480Impact of electronic coaching on cardiovascular risk reduction in a high-risk primary prevention population – A cardiovascular magnetic resonance sub-study1598Anatomical and functional evaluation of postinterventional pulmonary vein stenosis by magnetic resonance imaging1364Reduced infarct-adjacent wall thickening and impaired restperfusion in the area at risk of successfully reperfused acute myocardial infarction1580Correlation between circulating microRNA 29 and diffuse myocardial fibrosis, assessed by T1 mapping, in patients affected by non ischemic dilative cardiomyopathy1435Association of Smoking with Myocardial Injury and Clinical Outcome in Patients Undergoing Mechanical Reperfusion for ST-Elevation Myocardial Infarction1640Assessing the risk of late cardiotoxicity in low risk breast cancer survivors receiving contemporary anthracycline treatment: a 6 year 100 patient study1511Risk stratification in sarcoidosis: Incidence of cardiac sarcoidosis in individuals diagnosed with extra-cardiac disease by cardiovascular magnetic resonance1334Patterns of late gadolinium enhancement in Brugada syndrome1591Detailed Left Atrial Assessment in Anderson Fabry Disease1634Role of cardiac magnetic resonance in the diagnosis of ARVC/D mimics1321Comparison of transtlioracic ecliocardiography versus cardiac magnetic for implantable cardioverter defibrillator therapy in primary prevention strategy dilated cardiomyopathy patients: Table 1.

Author

Angela, Susana, primary, Camaioni, Claudia, primary, Bohnen, S., primary, Khanji, Mohammed Y., primary, Hilbert, Sebastian, primary, Goetschalckx, K., primary, Calvieri, C., primary, Reinstadler, Sebastian J., primary, Maestrini, Viviana, primary, James, S., primary, Bastiaenen, Rachel, primary, Reid, A. B., primary, Amadu, A.M., primary, Pontone, Gianluca, primary, Alberto, Cipriani, additional, Manuel, De Lazzari, additional, Federico, Marin, additional, Francesca, Prevedello, additional, Bendetta, Giorgi, additional, Giorgio, De Conti, additional, Giuseppe, Tarantini, additional, Luisa, Cacciavillani, additional, Emanuele, Bertaglia, additional, Domenico, Corrado, additional, Sabino, Iliceto, additional, Martina, Perazzolo Marra, additional, Morlon, Lucas, additional, Vergé, Marie-Philippe, additional, Jais, Pierre, additional, Roudaut, Raymond, additional, Laurent, François, additional, Lafitte, Stéphane, additional, Cochet, Hubert, additional, Réant, Patricia, additional, Radunski, U. K., additional, Lund, G. K., additional, Senel, M., additional, Avanesov, M., additional, Tahir, E., additional, Stehning, C., additional, Adam, G., additional, Blankenberg, S., additional, Muellerleile, K., additional, Balawon, Armida, additional, Boubertakh, Redha, additional, Petersen, Steffen E, additional, Spampinato, Ricardo, additional, Oebel, Sabrina, additional, Hindricks, Gerhard, additional, Bollmann, Andreas, additional, Jahnke, Cosima, additional, Paetsch, Ingo, additional, Bogaert, J., additional, Desmet, W., additional, Toth, A., additional, Merkely, B., additional, Janssens, S., additional, Claus, P., additional, Preda, M. B., additional, Perfetti, A., additional, Valaperta, R., additional, Secchi, F., additional, Fedele, F., additional, Martelli, F., additional, Lombardi, M., additional, Eitel, Charlotte, additional, Fuernau, Georg, additional, de Waha, Suzanne, additional, Desch, Steffen, additional, Mende, Meinhard, additional, Metzler, Bernhard, additional, Schuler, Gerhard, additional, Thiele, Holger, additional, Eitel, Ingo, additional, Mun, Hong Cheang, additional, Kotwinski, Paul, additional, Rosmini, Stefania, additional, Sanders, Julie, additional, Lloyd, Guy, additional, Dudley, J. Pennell, additional, Kellman, Peter, additional, Hugh, E. Montgomery, additional, Manisty, Charlotte, additional, James, C. Moon, additional, Waterhouse, D.F., additional, Murphy, T.M., additional, Kenny, C., additional, O'Hanlon, R., additional, Cox, Andrew T., additional, Wijeyeratne, Yanushi, additional, Colbeck, Nicholas, additional, Pakroo, Nadia, additional, Ahmed, Hammad, additional, Bunce, Nick, additional, Anderson, Lisa, additional, Prasad, Sanjay, additional, Sharma, Sanjay, additional, Behr, Elijah R., additional, Miller, C., additional, Jovanovic, A., additional, Woolfson, P., additional, Abidin, N., additional, Schmitt, M., additional, Rodrigues, J.C.L., additional, Dastidar, A. Ghosh, additional, Baritussio, A., additional, Lawton, C., additional, Venuti, G., additional, Meloni, G.B., additional, Conti, M., additional, Bucciarelli-Ducci, C., additional, Andreini, Daniele, additional, SoLbiati, Anna, additional, Guglielmo, Marco, additional, Mushtaq, Saima, additional, Baggiano, Andrea, additional, Beltrama, Virginia, additional, Rota, Cristina, additional, Guaricci, Andrea I., additional, and Pepi, Mauro, additional

Published
2016
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30. Abstracts

Author

Treibel, Thomas A., Fridman, Yaron, Hackman, Brianne, Kadakkal, Ajay, Sayeed, Aatif, Maanja, Maren, Daya, Hussein Abu, Moon, James C., Wong, Timothy C., Schelbert, Erik B., Duca, Franz, Kammerlander, Andreas A., Zotter-Tufaro, Caroline, Aschauer, Stefan, Bonderman, Diana, Mascherbauer, Julia, Schwitter, Juerg, Beigelman-Aubry, Catherine, Peguret, Nicolas, Stuber, Matthias, Delacoste, Jean, Belmondo, Bastien, Lovis, Alban, Simons, Julien, Long, Olivier, Grant, Kathleen, Berchier, Gregoire, Rohner, Chantal, Bonanno, Gabriele, Coppo, Simone, Ozsahin, Esat-Mahmut, Qanadli, Salah, Meuli, Reto, Bourhis, Jean, Ide, Seiko, Riesenkampff, Eugenie, Chiasson, David, Dipchand, Anne I., Kantor, Paul F., Chaturvedi, Rajiv R., Yoo, Shi-Joon, Grosse-Wortmann, Lars, Sandrini, C., Aquaro, GD, De Marchi, D, Ait Ali, L, Khraiche, D, Boddaert, N, Bonnet, D, Raimondi, F, Fridman, Yaron, Hackman, Brianne E., Kadakkal, Ajay, Daya, Hussein Abu, Wong, Timothy C., Schelbert, Erik B., Angela, Susana, Alberto, Cipriani, Manuel, De Lazzari, Federico, Marin, Francesca, Prevedello, Bendetta, Giorgi, Giorgio, De Conti, Giuseppe, Tarantini, Luisa, Cacciavillani, Emanuele, Bertaglia, Domenico, Corrado, Sabino, Iliceto, Martina, Perazzolo Marra, Camaioni, Claudia, Morlon, Lucas, Vergé, Marie-Philippe, Jais, Pierre, Roudaut, Raymond, Laurent, Francois, Lafitte, Stéphane, Cochet, Hubert, Réant, Patricia, Bohnen, S., Radunski, U. K., Lund, G. K., Senel, M., Avanesov, M., Tahir, E., Stehning, C., Adam, G., Blankenberg, S., Muellerleile, K., Khanji, Mohammed Y., Balawon, Armida, Boubertakh, Redha, Petersen, Steffen E, Hilbert, Sebastian, Spampinato, Ricardo, Oebel, Sabrina, Hindricks, Gerhard, Bollmann, Andreas, Jahnke, Cosima, Paetsch, Ingo, Goetschalckx, K., Bogaert, J., Desmet, W., Toth, A., Merkely, B., Janssens, S., Claus, P., Calvieri, C., Preda, M. B., Perfetti, A., Valaperta, R., Secchi, F., Fedele, F., Martelli, F., Lombardi, M., Reinstadler, Sebastian J., Eitel, Charlotte, Fuernau, Georg, de Waha, Suzanne, Desch, Steffen, Mende, Meinhard, Metzler, Bernhard, Schuler, Gerhard, Thiele, Holger, Eitel, Ingo, Maestrini, Viviana, Mun, Hong Cheang, Kotwinski, Paul, Rosmini, Stefania, Sanders, Julie, Lloyd, Guy, Dudley, J. Pennell, Kellman, Peter, Hugh, E. Montgomery, Manisty, Charlotte, James, C. Moon, James, S., Waterhouse, D.F., Murphy, T.M., Kenny, C., O'Hanlon, R., Bastiaenen, Rachel, Cox, Andrew T., Wijeyeratne, Yanushi, Colbeck, Nicholas, Pakroo, Nadia, Ahmed, Hammad, Bunce, Nick, Anderson, Lisa, Prasad, Sanjay, Sharma, Sanjay, Behr, Elijah R., Reid, A. B., Miller, C., Jovanovic, A., Woolfson, P., Abidin, N., Schmitt, M., Amadu, A.M., Rodrigues, J.C.L., Dastidar, A. Ghosh, Baritussio, A., Lawton, C., Venuti, G., Meloni, G.B., Conti, M., Bucciarelli-Ducci, C., Pontone, Gianluca, Andreini, Daniele, SoLbiati, Anna, Guglielmo, Marco, Mushtaq, Saima, Baggiano, Andrea, Beltrama, Virginia, Rota, Cristina, Guaricci, Andrea I., Pepi, Mauro, Wang, Yufei, Joannic, David, Juillion, Patrick, Delassus, P., Monnet, Aurélien, Lalande, Alain, Fontaine, Jean-Francois, Zweerink, A, Allaart, CP, Wu, L, Kuijer, JPA, Beek, AM, Croisille, P, Clarysse, P, van Rossum, AC, Nijveldt, R, Bulluck, Heerajnarain, Rosmini, Stefania, Abdel-Gadir, Amna, Bhuva, Anish, Treibel, Thomas A, White, Steven K, Hammond-Haley, Matthew, Sirker, Alex, Herrey, Anna, Manisty, Charlotte, Yellon, Derek M, Kellman, Peter, Moon, James C, Hausenloy, Derek J, Garg, P., Hassell, M, Foley, J., Ripley, D.P., Dobson, L., Swoboda, P.P., Fent, G., Musa, T.A., Erhayiem, B., Haaf, P., Greenwood, J.P., Nijveldt, R., Westenberg, J.J.M., Geest, R.J.V.D., Plein, S., Rodrigues, Jonathan C L, Amadu, Antonio Matteo, Dastidar, Amardeep Ghosh, Szantho, Gergley, Lyen, Stephen, Godsave, Cattleya, Ratcliffe, Laura E K, Burchell, Amy E, Hart, Emma C, Hamilton, Mark C K, Nightingale, Angus K, Paton, Julian F R, Manghat, Nathan E, Bucciarelli-Ducci, Chiara, Hafyane, Tarik, Teixeira, Tiago, Greiser, Andreas, Mongeon, Francois Pierre, Haifa, Almutairi, Mohammed, Khanji, Redha, Boubertakh, Marc, Miquel, Steffen, Petersen, Greulich, S., Kitterer, D., Latus, J., Henes, J., Kurmann, R., Gloekler, S., Wahl, A., Buss, S., Katus, H., Bobbo, M., Lombardi, M., Braun, N., Alscher, M.D., Sechtem, U., Mahrholdt, H., Meloni, A., Neri, M.G., Preziosi, P., Grassedonio, E., Schicchi, N., Keilberg, P., Pulini, S., Facchini, E., Positano, V., Pepe, A., Nazir, Sheraz A., Shetye, Abhishek, Khan, Jamal N., Singh, Anvesha, Kanagala, Prathap, Swarbrick, Daniel, Gulsin, Gaurav, Graham-Brown, Matthew, Squire, Iain, Gershlick, Anthony, McCann, Gerry P., Stefan Biesbroek, P., Amier, Raquel P., Teunissen, Paul F.A., Robbers, Lourens F.H.J., Beek, Aernout M., van Rossum, Albert C., Hofman, Mark B.M., van Royen, Niels, Nijveldt, Robin, Arenja, Nisha, Riffel, Johannes H, Djiokou, Charly Noel, Andre, Florian, Fritz, Thomas, Halder, Manuel, Thomas, Zelniker, Korosoglou, Grigorios, Katus, Hugo A, Buss, Sebastian J, Kammerlander, Andreas A., Schwaiger, Marianne L., Duca, Franz, Aschauer, Stefan, Marzluf, Beatrice A., Zotter-Tufaro, Caroline, Dalos, Daniel, Pfaffenberger, Stefan, Bonderman, Diana, Mascherbauer, Julia, Sayeed, Aatif, Fridman, Yaron, Hackman, Brianne, Kadakkal, Ajay, Maanja, Maren, Daya, Hussein Abu, Wong, Timothy C., Schelbert, Erik B., Ricci, F., Barison, A., Todiere, G., Gaeta, R., Galllina, S., Emdin, M., De Caterina, R., Aquaro, G.D., Bernhardt, Peter, Buckert, Dominik, Dyckmanns, Nils, Rottbauer, Wolfgang, Meierhofer, Christian, Kühn, Andreas, Shehu, Nerejda, Müller, Jan, Stern, Heiko, Ewert, Peter, Fratz, Sohrab, Vogt, Manfred, Devos, Daniel G.H., De Groote, Katya, Babin, Danilo, Demulier, Laurent, Taeymans, Yves, Westenberg, Jos J., Van Bortel, Luc, Segers, Patrick, Achten, Eric, De Schepper, Jean, Rietzschel, Ernst, Ruecker, Beate, Geiger, Julia, Makki, Malek, Burkhardt, Barbara, Kellenberger, Christian J., Buechel, Emanuela R. Valsangiacomo, Burkhardt, B.E.U., Kellenberger, C.J., Geiger, J., Ruecker, B., Buechel, E.R. Valsangiacomo, Kamphuis, Vivian P., Elbaz, Mohammed S.M., Kroft, Lucia J.M., van der Geest, Rob J., de Roos, Albert, Blom, Nico A., Westenberg, Jos J.M., Roest, Arno A.W., De Lazzari, Manuel, Cipriani, Alberto, Susana, Angela, Rizzo, Stefania, Giorgi, Benedetta, Carmelo, Lacognata, Bertaglia, Emanuele, Bauce, Barbara, Corrado, Domenico, Thiene, Gaetano, Marra, Martina Perazzolo, Basso, Cristina, Iliceto, Sabino, Nederend, I., Roest, A.A.W., van den Boogaard, P.J., ten Harkel, A.D.J., de Geus, J.C.N., Kroft, L.J.M., de Roos, A., Westenberg, J.J.M., Dux-Santoy, Lydia, Kale, Raquel, Teixido-Tura, Gisela, Maldonado, Giuliana, Huguet, Marina, Garcia-Dorado, David, Evangelista, Artur, Rodriguez-Palomares, Jose, Cavalcante, João L., Rijal, Shasank, Schindler, John T., Gleason, Thomas G., Lee, Joon S., Schelbert, Erik B., Rosmini, Stefania, Bulluck, Heerajnarain, Treibel, Thomas A, Bhuva, Anish, Abdel-Gadir, Amna, Culotta, Veronica, Merghani, Ahmed, Maestrini, Viviana, Herrey, Anna S, Kellman, Peter, Manisty, Charlotte, Moon, James C, Liu, B., Hayer, M.K., Baig, S., Shah, T., Rooney, S.J., Edwards, N.C., Steeds, R.P., Fent, G.J., Garg, P., Swoboda, P., Dobson, L.E., Musa, T.A., Foley, J.F., Haaf, P., Greenwood, J.P., Plein, S., Claessen, G., Schnell, F., Bogaert, J., Dymarkowski, S., Pattyn, N., Claus, P., Van Cleemput, J., Gerche, A. La, Heidbuchel, H., Behar, Jonathan, Toth, Daniel, Reiml, Sabrina, Panayiotou, Maria, Claridge, Simon, Jackson, Tom, Sohal, Manav, Webb, Jessica, O'Neill, Mark, Brost, Alexander, Mountney, Peter, Razavi, Reza, Rhode, Kawal, Rinaldi, Christopher Aldo, Oebel, S., Arya, A., Hilbert, S., Bollmann, A., Hindricks, G., Jahnke, C., Paetsch, I., Dinov, B., Baritussio, A., Perazzolo Marra, M., Ghosh Dastidar, A., Rodrigues, J., Zorzi, A., Susana, A., Scatteia, A., De Garate, E., Mattesi, G., Strange, J., Corrado, D., Bucciarelli-Ducci, C., Ranjit Arnold, J., Jerosch-Herold, Michael, Karamitsos, Theodoros D., Francis, Jane M., Bhamra-Ariza, Paul, Sarwar, Rizwan, Choudhury, Robin, Selvanayagam, Joseph B., Neubauer, Stefan, Tayal, Upasana, Scott, Andrew D, Wage, Rick, Ferreira, Pedro, Pennell, Dudley, Zhong, Xiaodong, Epstein, Fred, Firmin, David, Prasad, Sanjay, Kallifatidis, Alexandros, Prousalis, Anastasios, Mouratoglou, Sophia-Anastasia, Giannakoulas, George, Deligianni, Xenia, Bakaloudis, Michail, Magganaris, Nikolaos, Sianos, George, Karvounis, Haralampos, Santini, Francesco, Garg, P., Aziz, R., Foley, J.R.J., Fent, G., Musa, T.A., Haaf, P., Dobson, L., Swoboda, P.P., Greenwood, J.P., Plein, S., Geest, R.J.V.D., Westenberg, J.J.M., Beitzke, D., Rasul, S., Wadsak, W., Mitterhauser, M., Nolz, R., Stelzmueller, M., Loewe, C., Hacker, M., Funk, Stephanie, Kermer, Josephine, Dogangüzel, Serkan, von Knobelsdorff-Brenkenhoff, Florian, Schulz-Menger, Jeanette, Kolker, Shimon, Weisz, Giora, Bogot, Naama, Halpern, Irit Hadas, Wolak, Arik, Rutz, Tobias, Ginami, Giulia, Piccini, Davide, Coppo, Simone, Vincenti, Gabriella, Stuber, Matthias, Schwitter, Jürg, Safdar, Komal S, Gao, Xuexin, Ambach, Stephanie, Taylor, Michal D, Moore, Ryan, Taylor, Robin J, Toro-Salazar, Olga, Jeffries, John L, Bartone, Cheryl, Raman, Subha V, Mazur, Wojciech, Valente, F., Rodriguez-Palomares, J.F., Gutierrez, L., Pineda, V., Agliano, B., Galian, L., Teixido, G., Gonzalez-Alujas, M.T., Evangelista, A., Garcia-Dorado, D., Murdoch, R., Gandy, S., Nicholas, R., Houston, G., Martin, P., Muir, J., Matthew, S., Ramkumar, P. Guntur-, Cavin, I., Macaione, F., Barison, A., Pescetelli, I., Pali, F., Pizzino, F., Terrizzi, A., Di Lisi, D., Novo, G., Todiere, G., Assennato, P., Novo, S., Aquaro, G.D., Dastidar, Amardeep Ghosh, McAlindon, Elisa, Rodrigues, Jonathan, Baritussio, Anna, Scatteia, Alessandra, De Garate, Estefania, Benny Lawton, Chris, Erdei, Tamas, Szantho, Gergely, Hamilton, Mark, Bucciarelli-Ducci, Chiara, Pontone, Gianluca, Andreini, Daniele, Rota, Cristina, Guglielmo, Marco, Mushtaq, Saima, Baggiano, Andrea, Beltrama, Virginia, Solbiati, Anna, Guaricci, Andrea I., Pepi, Mauro, Grigoratos, Chrysanthos, Bratis, Konstantinos, Henningson, Markus, Dell'Omodarme, Matteo, Puntmann, Valentina O., Nagel, Eike, Meloni, Antonella, Giunta, Nicola, Giuliano, Pietro, Neri, Maria Giovanna, Restaino, Gennaro, Renne, Stefania, Quota, Alessandra, Positano, Vincenzo, De Marchi, Daniele, Pepe, Alessia, Pedrotti, Patrizia, Campadello, Paola, Masciocco, Gabriella, Facchetti, Rita, Milazzo, Angela, Quattrocchi, Giuseppina, Giannattasio, Cristina, Frigerio, Maria, Roghi, Alberto, Rimoldi, Ornella, De Garate, Estefania, Ghosh Dastidar, Amardeep, Baritussio, Anna, Scatteia, Alessandra, Amadu, Antonio, Venuti, Giuseppe, Rodrigues, Jonathan C., Bucciarelli-Ducci, Chiara, Careri, Giulia, Castelvecchio, Serenella, Camporeale, Antonia, Secchi, Francesco, Menicanti, Lorenzo, Lombardi, Massimo, Kockova, R., Sedlacek, K., Wichterle, D., Sikula, V., Tintera, J., Sukupova, L., Kautznerova, D., Segetova, M., Praveckova, A., Langova, R., Kryze, L., El-Husseini, W., Kautzner, J., Oebel, S., Dinov, B., Arya, A., Hilbert, S., Sommer, P., Bollmann, A., Hindricks, G., Paetsch, I., Jahnke, C., Nazir, Sheraz A., Greenwood, John P., Shetye, Abhishek, Khan, Jamal N., Singh, Anvesha, Kanagala, Prathap, Swarbrick, Daniel, Gulsin, Gaurav, Graham-Brown, Matthew, Gershlick, Anthony, McCann, Gerry P., Grigoratos, Chrysanthos, Liga, Riccardo, Bennatti, Elena, Barison, Andrea, Todiere, Giancarlo, Aquaro, Giovanni Donato, Dell'Omodarme, Matteo, Lombardi, Massimo, Emdin, Michele, Masci, Pier Giorgio, Barison, A, Ortalda, A, Todiere, G, Grigoratos, C, Vergaro, G, Mirizzi, G, Martini, N, De Marchi, D, Keilberg, P, Passino, C, Aquaro, GD, Emdin, M, Swoboda, Peter P, McDiarmid, Adam K, Erhayiem, Bara, Fent, Graham J, Dobson, Laura E, Garg, Pankaj, Musa, Tarique A, Foley, James R, Page, Stephen P, Greenwood, John P, Plein, Sven, Bulluck, Heerajnarain, Rosmini, Stefania, Abdel-Gadir, Amna, Bhuva, Anish, Treibel, Thomas A, White, Steven K, Fontana, Marianna, Ramlall, Manish, Hamarneh, Ashraf, Sirker, Alex, Herrey, Anna, Manisty, Charlotte, Yellon, Derek M, Kellman, Peter, Moon, James C, Hausenloy, Derek J, Broncano, J., Luna, A., Noguerol, T. Martin –, Caro, P., Toro-Cebada, R., Gonzalez, J. Sanchez –, Desroche, L.M., Milleron, O., Safar, B., Lavie-Badie, Y., Millischer, D., Abtan, J., Jondeau, G., Bermejo, Zorba Blázquez, Cuesta, Emilio, Rosillo, Sandra O., Guzmán, Gabriela, Pinilla, Inmaculada, González, Óscar, Caro, Juan, Ponz, Inés, López, Teresa, Refoyo, Elena, Kozor, Rebecca, Nordin, Sabrina, Treibel, Thomas A, Rosmini, Stefania, Castelleti, Silvia, Fontana, Marianna, Captur, Gabriella, Steeds, Rick, Baig, Shanat, Manisty, Charlotte, Grieve, Stuart M, Figtree, Gemma A, Moon, James C, Dastidar, Amardeep Ghosh, Rodrigues, Jonathan, De Garate, Estefania, Singhal, Priyanka, McAlindon, Elisa, Baritussio, Anna, Scatteia, Alessandra, Erdei, Tamas, Strange, Julian, Nightingale, Angus, Baumbach, Andreas, Johnson, Tom, Delgado, Victoria, Bucciarelli-Ducci, Chiara, Lapinskas, Tomas, Bucius, Paulius, Fedaravicius, Augustinas P., Urbonaite, Laura, Stabinskaite, Agnieta, Zaliunas, Remigijus, Elisabetta, Chiodi, Teresa, Cannizzaro Maria, Daniele, De Falco Alfano, Righi, Riccardo, Zerbini, Michela, Vincenzo, Positano, Cittanti, Corrado, Giganti, Melchiore, Giorgio, Benea, Grigoratos, Chrysanthos, Genovesi, Dario, Giorgetti, Assuero, Chiappino, Sara, Barison, Andrea, Vergaro, Giuseppe, Todiere, Giancarlo, Emdin, Michele, Marzullo, Paolo, Aquaro, Giovanni Donato, Ladeiras-Lopes, Ricardo, Turin-Moreira, Henrique, Bettencourt, Nuno, Fontes-Carvalho, Ricardo, Sampaio, Francisco, Ambale-Venkatesh, Bharath, Wu, Colin, Liu, Kiang, Bertoni, Alain, Ouyang, Pamela, Bluemke, David, Lima, João, Fent, GJ., Garg, P., Dobson, LE., Musa, TA., Foley, JF., Haaf, P., Greenwood, JP., Plein, S., Swoboda, PP., Abdul Rahman, E., Ismail, JR., Najme Khir, R., Lim, CW., Chua, N., Ibrahim, ZO., Zainal Abidin, HA., Mohd Arshad, MK., Kasim, SS., Rodrigues, Jonathan, Rooms, Ben, Hyde, Katie, Rohan, Stephen, Dastidar, Amardeep Ghosh, Hamilton, Mark, Bucciarelli-Ducci, Chiara, Nightingale, Angus, Paton, Julian, Manghat, Nathan, MacIver, David, Gibelli, Giuseppe, Demolli, Walter, Russo, Alessandra, Minoia, Chiara, Biasi, Salvatore, Mkrtchyan, Naira, Eltschkner, Christin, Christian, Meierhofer, Ewert, Peter, Martinoff, Stefan, Stern, Heiko, Fratz, Sohrab, Valinoti, Maddalena, Fabbri, Claudio, Mantovan, Roberto, Severi, Stefano, Corsi, Cristiana, Nyktari, E., Vassiliou, V., Arzanauskaite, M., Izgi, C., Lam, W., Prasad, S., Reindl, Martin, Reinstadler, Sebastian Johannes, Feistritzer, Hans-Josef, Klug, Gert, Mair, Johannes, Mayr, Agnes, Jaschke, Werner, Franz, Wolfgang-Michael, Metzler, Bernhard, Arnhold, K., Muehlberg, F., Fritschi, S., Funk, S., Prothmann, M., von Knobelsdorff-Brenkenhoff, F., Schulz-Menger, J., Lakhani, Zeeshan S. A., Mohan, B., karthik, G A., Raj, Vimal, Weir-McCall, Jonathan, Cassidy, Deirdre B, Belch, Jill JF, Gandy, Stephen J, Houston, Graeme, Lambert, Matthew A, Littleford, Roberta, Rowland, Janice, Struthers, Allan D, Khan, Faisel, Camaioni, Claudia, Salel, Marjorie, Hennig, Alexia, Corneloup, Olivier, Montaudon, Michel, Laurent, Francois, Cochet, Hubert, Kan, Rachel, Erhayiem, Bara, McDiarmid, Adam K., Garg, Pankaj, Dobson, Laura E., Musa, Tarique A., Ripley, David, Ajjan, Ramzi, Greenwood, John P., Plein, Sven, Swoboda, Peter P., Reinstadler, Sebastian J., Fuernau, Georg, Eitel, Charlotte, de Waha, Suzanne, Desch, Steffen, Metzler, Bernhard, Schuler, Gerhard, Thiele, Holger, Eitel, Ingo, Feistritzer, Hans-Josef, Reinstadler, Sebastian Johannes, Klug, Gert, Reindl, Martin, Mair, Johannes, Mayr, Agnes, Franz, Wolfgang-Michael, Metzler, Bernhard, Feistritzer, Hans-Josef, Klug, Gert, Reinstadler, Sebastian Johannes, Reindl, Martin, Mayr, Agnes, Franz, Wolfgang-Michael, Metzler, Bernhard, Festa, P., Cadoni, A., D'andrea, C., Costa, S., Keilberg, P., Lunardini, A., Ali, L. Ait, Ali, L. Ait, Aquaro, GD., Peritore, G., Ricci, F., De Marchi, D., Passino, C., Festa, P., Martínez, A. Tercero, Cuartero, J. Navarro, Soriano, J.G. Córdoba, Núñez, S. Calero, de Galarreta, T. Cros Ruiz, García, M. Villar, Page, J.C. Gallego, López, J.C. García, Ruiz, M. Barambio, Erdei, Tamas, Rodrigues, Jonathan C., McIntyre, Bethannie, Dastidar, Amardeep Ghosh, Burchell, Amy E., Ratcliffe, Laura, Hart, Emma C., Paton, Julian F., Hamilton, Mark, Nightingale, Angus K., Manghat, Nathan E., Orii, Makoto, Tanimoto, Takashi, Ota, Shingo, Nishiguchi, Tsuyoshi, Tsujioka, Hiroto, Kuroi, Akio, Yamano, Takashi, Matsuo, Yoshiki, Ino, Yasushi, Kitabata, Hironori, Kubo, Takashi, Tanaka, Atsushi, Hozumi, Takeshi, Akasaka, Takashi, Sousa, Alexandra, Pinho, Teresa, Canedo, Paulo, Lopes, Luís, Azevedo, Olga, Madureira, António, Belo, Adriana, Cardoso, José Silva, Machado, José Carlos, Martins, Elisabete, Brzozowska-Czarnek, Agata, Urbanik, Andrzej, Brzozowska-Czarnek, Agata, Urbanik, Andrzej, Rakowski, Tomasz, Agudo-Quílez, P., Pozo-Osinalde, E., Viliani, D., Olivera, MJ., Caballero, P., Jiménez-Borreguero, LJ., Alfonso, F., Carrabba, Nazario, Angeloni, Giulia, Migliorini, Angela, Valenti, Renato, Parodi, Guido, Antoniucci, David, Almeida-Morais, Luís, Galrinho, Ana, Moura-Branco, Luísa, Tavares-Jalles, Nuno, António, Marta, Abreu, João, Timóteo, Ana Teresa, Pinto-Teixeira, Pedro, Aguiar-Rosa, Sílvia, Rodrigues, Inês, Modas-Daniel, Pedro, Cruz-Ferreira, Rui, Bica, R., Dobre, D., Stanciu, S., Acatrinei, E., Nour, A., Stefan, L., Calistru, P., Rajewska-Tabor, J., Pyda, M., Janus, M., Siniawski, A., Rajewska-Tabor, J., Pyda, M., Janus, M., Siniawski, A., Shaheen, Sameh Mohamed, Elhammady, Walid Abdel-Azim, Ahmed, Mohamed Ismail, Abdel-Hakim, Ahmed Samir, Allam, Lamyaa Elsayed, Helal, Ayman Mohamed, Inage, Akio, Mizuno, Naokazu, Inage, Akio, Mizuno, Naokazu, TEIS, Albert, JUNCÀ, Gladys, ARCE, Javier, ARMARIO, David, Cescau, Arthur, Logeart, Damien, Gelen, Barnabas, Derumeaux, Genevie`ve, Vicaut, Eric, Mercadier, Jean-Jacques, Sirol, Marc, Cipriani, Alberto, De Lazzari, Manuel, Susana, Angela, Zorzi, Alessandro, Baritussio, Anna, Siciliano, Mariachiara, Marinato, Martina, Prevedello, Francesca, Giorgi, Benedetta, Vezzaro, Roberto, Corrado, Domenico, Marra, Martina Perazzolo, von Roeder, M., Rommel, K.-P., Kowallick, J.T., Blazek, S., Fengler, K., Lotz, J., Hasenfuß, G., Lücke, Ch., Gutberlet, M., Schuler, G., Schuster, A., Lurz, Ph., Mahmoud, Ahmad A., Rifaie, Osama, Samir, Ahmed, Allam, Lamyaa, Duca, Franz, Kammerlander, Andreas A., Zotter-Tufaro, Caroline, Aschauer, Stefan, Bonderman, Diana, Mascherbauer, Julia, She, Hoi Lam, Roest, Arno A.W., van den Boogaard, Pieter J., Calkoen, Emmeline E., van der Geest, Rob J., Hazekamp, Mark G., de Roos, Albert, Westenberg, Jos J.M., Burkhardt, B.E.U., Kellenberger, C.J., Geiger, J., Ruecker, B., Buechel, E.R. Valsangiacomo, Bainbridge, G., Garg, P., Foley, J.R.J., Fent, G., Musa, T.A., Haaf, P., Dobson, L., Swoboda, P.P., Greenwood, J.P., Plein, S., Charalambos, Max, Rodrigues, Jonathan, Burchell, Amy, Dastidar, Amardeep Ghosh, BSc(Hons), Laura Ratcliffe, Hart, Emma, Hamilton, Mark, Paton, Julian, Nightingale, Angus, Manghat, Nathan, Muñoz, Begoña Igual, Monserrat, Adrian, gonzalez, Alicia Maceira, Tuset, Luis, Miro, Vicente, Hernandiz, Amparo, Fernandez, Rubén, Sauri, Asunción, Sepúlveda, Pilar, Diez, Jose Luis, Montero, Anastasio, Contaldi, Carla, Imbriaco, Massimo, Alcidi, Gianmarco, Ponsiglione, Andrea, Santoro, Ciro, Puglia, Marta, Barbuto, Luigi, Cuocolo, Alberto, Trimarco, Bruno, Galderisi, Maurizio, Muñoz, Begoña Igual, Sanchez, Elena, Plaza, Diego, sanchis, Pilar Sepúlveda, Gonzalez, Alicia Maceira, Hernandiz, Amparo, Miro, Vicente, vazquez, Alex, Diez, Jose Luis, Martinez, Luis, Montero, Anastasio, Muñoz, B. 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Abstract

Objectives: Myocardial fibrosis in noninfarcted myocardium is emerging as a principal phenotype of vulnerability to adverse events such as mortality and hospitalization for heart failure (HHF), but its optimal noninvasive measurement remains uncertain despite consistently robust histologic validation data for extracellular volume fraction (ECV). We therefore compared ECV, native T1, post contrast T1, the gadolinium contrast partition coefficient (lambda), and the presence of nonischemic scar in their associations with mortality and HHF outcomes. Method: To quantify of myocardial fibrosis, we performed T1 mapping (MOLLI) in basal and mid short axis slices with cardiovascular magnetic resonance (CMR) before contrast and 12-30 minutes post contrast bolus in 1185 consecutive patients without amyloidosis, hypertrophic or stress cardiomyopathy. We assessed associations with outcomes using Kaplan-Meier plots and chi square values from univariable Cox regression models. All standard T1 mapping parameters were obtained: native and post contrast myocardial T1, the partition coefficient lambda, and ECV. ECV = (1-hematocrit) · [ΔR1myocardium]/[ΔR1bloodpool], where R1 = 1/T1 Late gadolinium enhancement imaging with phase sensitive reconstruction identified nonischemic scar. Results: Over a median of 1.7 years, 111 individuals experienced events after CMR: 55 HHF events and 74 deaths. ECV yielded better separation of Kaplan-Meier curves in a dose dependent fashion (Figure) and also stronger associations with the combined endpoint of death or HHF. The ECV chi square (77.3, p < 0.001) was at least twice as large as the Native T1 chi square (37.5, p < 0.001), the lambda chi square (34.8, p < 0.001) and nonischemic scar (chi square = 20.5, p<0.001). Post-contrast T1 was not associated with outcomes, even when adjusting further for time after contrast bolus, renal function, and patient weight (chi square <3, p >0.10). Conclusion: Analogous to histologic previously published validation data, quantitative ECV myocardial fibrosis measures associated with outcomes far stronger than other surrogate measures outcome measures such as native T1, post contrast T1 and nonischemic scar on LGE images. These data suggest that ECV is the noninvasive metric of choice to measure myocardial fibrosis. Figure. Kaplan-Meier Plots for T1 mapping parameters.

Published
2016
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31. Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study

Author

Antonia Camporeale, Francesco Bandera, Maurizio Pieroni, Federico Pieruzzi, Marco Spada, Anna Bersano, Laura Econimo, Chiara Lanzillo, Marta Rubino, Renzo Mignani, Irene Motta, Iacopo Olivotto, Ilaria Tanini, Rea Valaperta, Kelvin Chow, Irene Baroni, Sara Boveri, Francesca Graziani, Silvia Pica, Lara Tondi, Marco Guazzi, Massimo Lombardi, Camporeale, A, Bandera, F, Pieroni, M, Pieruzzi, F, Spada, M, Bersano, A, Econimo, L, Lanzillo, C, Rubino, M, Mignani, R, Motta, I, Olivotto, I, Tanini, I, Valaperta, R, Chow, K, Baroni, I, Boveri, S, Graziani, F, Pica, S, Tondi, L, Guazzi, M, and Lombardi, M

Subjects
Settore MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Genetics, Fabry Disease, Cardiac Magnetic Resonance, Migalastat, Genetics (clinical)
Abstract

BackgroundA small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess the effect of migalastat on FD cardiac involvement, combining LV morphology and tissue characterisation by cardiac magnetic resonance (CMR) with cardiopulmonary exercise testing (CPET).MethodsSixteen treatment-naïve patients with FD (4 women, 46.4±16.2 years) with cardiac involvement (reduced T1 values on CMR and/or LV hypertrophy) underwent ECG, echocardiogram, troponin T and NT-proBNP (N-Terminal prohormone of Brain Natriuretic Peptide) assay, CMR with T1 mapping, and CPET before and after 18 months of migalastat.ResultsNo change in LV mass was detected at 18 months compared to baseline (95.2 g/m2(66.0–184.0) vs 99.0 g/m2(69.0–121.0), p=0.55). Overall, there was an increase in septal T1 of borderline significance (870.0 ms (848–882) vs 860.0 ms (833.0–875.0), p=0.056). Functional capacity showed an increase in oxygen consumption (VO2) at anaerobic threshold (15.50 mL/kg/min (13.70–21.50) vs 14.50 mL/kg/min (11.70–18.95), p=0.02), and a trend towards an increase in percent predicted peak VO2(72.0 (63.0–80.0) vs 69.0 (53.0–77.0), p=0.056) was observed. The subset of patients who showed an increase in T1 value and a reduction in LV mass (n=7, 1 female, age 40.5 (28.6–76.0)) was younger and at an earlier disease stage compared to the others, and also exhibited greater improvement in exercise tolerance.ConclusionIn treatment-naïve FD patients with cardiac involvement, 18-month treatment with migalastat stabilised LV mass and was associated with a trend towards an improvement in exercise tolerance. A tendency to T1 increase was detected by CMR. The subset of patients who had significant benefits from the treatment showed an earlier cardiac disease compared to the others.Trial registration numberNCT03838237.

Published
2023

32. Effect of Migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study.

Author

Camporeale A, Bandera F, Pieroni M, Pieruzzi F, Spada M, Bersano A, Econimo L, Lanzillo C, Rubino M, Mignani R, Motta I, Olivotto I, Tanini I, Valaperta R, Chow K, Baroni I, Boveri S, Graziani F, Pica S, Tondi L, Guazzi M, and Lombardi M

Subjects
Humans, Female, Adult, Magnetic Resonance Imaging, 1-Deoxynojirimycin, Predictive Value of Tests, Fabry Disease, Heart Diseases
Abstract

Background: A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess the effect of migalastat on FD cardiac involvement, combining LV morphology and tissue characterisation by cardiac magnetic resonance (CMR) with cardiopulmonary exercise testing (CPET)., Methods: Sixteen treatment-naïve patients with FD (4 women, 46.4±16.2 years) with cardiac involvement (reduced T1 values on CMR and/or LV hypertrophy) underwent ECG, echocardiogram, troponin T and NT-proBNP (N-Terminal prohormone of Brain Natriuretic Peptide) assay, CMR with T1 mapping, and CPET before and after 18 months of migalastat., Results: No change in LV mass was detected at 18 months compared to baseline (95.2 g/m 2 (66.0-184.0) vs 99.0 g/m 2 (69.0-121.0), p=0.55). Overall, there was an increase in septal T1 of borderline significance (870.0 ms (848-882) vs 860.0 ms (833.0-875.0), p=0.056). Functional capacity showed an increase in oxygen consumption (VO 2 ) at anaerobic threshold (15.50 mL/kg/min (13.70-21.50) vs 14.50 mL/kg/min (11.70-18.95), p=0.02), and a trend towards an increase in percent predicted peak VO 2 (72.0 (63.0-80.0) vs 69.0 (53.0-77.0), p=0.056) was observed. The subset of patients who showed an increase in T1 value and a reduction in LV mass (n=7, 1 female, age 40.5 (28.6-76.0)) was younger and at an earlier disease stage compared to the others, and also exhibited greater improvement in exercise tolerance., Conclusion: In treatment-naïve FD patients with cardiac involvement, 18-month treatment with migalastat stabilised LV mass and was associated with a trend towards an improvement in exercise tolerance. A tendency to T1 increase was detected by CMR. The subset of patients who had significant benefits from the treatment showed an earlier cardiac disease compared to the others., Trial Registration Number: NCT03838237., Competing Interests: Competing interests: AC: honoraria for presentations and board meetings from Amicus Therapeutics, Sanofi Genzyme and Shire; research grant from Amicus Therapeutics. MP: speaker and advisory board honoraria and travel support from Sanofi Genzyme, Amicus Therapeutics and Shire. FP: honoraria from Sanofi Genzyme, Shire and Amicus Therapeutics. MS: honoraria for speaking fees for symposia and meetings and for advisory board attendance from Sanofi Genzyme and Shire International. AB: travel sponsor from Genzyme, Shire and Amicus. CL: travel sponsor from Genzyme, Shire and Amicus. MR: travel sponsor from Genzyme, Shire and Amicus. RM: travel sponsor, honoraria and expert witness with Sanofi Genzyme and Amicus. IM: travel sponsor from Genzyme, Shire and Amicus. IO: advisory board for Amicus, Cytokinetics, Tenaya and BMS; research grant from Amicus, Genzyme, Shire, BMS, Cytokinetics, Menarini International, Bayer and Boston Scientific. IT: travel sponsor from Genzyme, Shire and Amicus. KC: full-time employee of Siemens Medical Solutions USA. FG: travel sponsor from Genzyme, Shire and Amicus; honoraria speaker for Takeda-Shire and Genzyme. ML: honoraria for presentations from Shire., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2023
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33. Impact of SARS-CoV-2 Omicron and Delta variants in patients requiring intensive care unit (ICU) admission for COVID-19, Northern Italy, December 2021 to January 2022.

Author

Piralla A, Mojoli F, Pellegrinelli L, Ceriotti F, Valzano A, Grasselli G, Gismondo MR, Micheli V, Castelli A, Farina C, Arosio M, Lorini FL, Fanti D, Busni A, Laratta M, Maggi F, Novazzi F, Cabrini L, Callegaro AP, Keim R, Remuzzi G, Cavallero A, Malandrin SMI, Rona R, Giardina F, Ferrari G, Zavaglio F, D'angelo P, Galli C, Bubba L, Binda S, Oggioni M, Uceda Renteria SC, Bono P, Baj A, Ferrante FD, Guarneri D, Tonelli M, Napolitano G, Nava A, Romeo L, Nicolini E, Valaperta R, Varisano L, Mele C, Liguori L, Raggi M, Mongodi S, Pagani M, Severgnini P, Gasberti D, Bonanomi E, Gritti P, Marrazzo F, Giovannini I, Sacchi N, Sagliocco O, Cereda D, Buoro S, Baldanti F, and Pariani E

Subjects
Adult, Humans, Inpatients, Intensive Care Units, Italy epidemiology, SARS-CoV-2, COVID-19 epidemiology
Abstract

This multicenter observational study included 171 COVID-19 adult patients hospitalized in the ICUs of nine hospitals in Lombardy (Northern Italy) from December, 1st 2021, to February, 9th 2022. During the study period, the Delta/Omicron variant ratio of cases decreased with a delay of two weeks in ICU patients compared to that in the community; a higher proportion of COVID-19 unvaccinated patients was infected by Delta than by Omicron whereas a higher rate of COVID-19 boosted patients was Omicron-infected. A higher number of comorbidities and a higher comorbidity score in ICU critically COVID-19 inpatients was positively associated with the Omicron infection as well in vaccinated individuals. Although people infected by Omicron have a lower risk of severe disease than those infected by Delta variant, the outcome, including the risk of ICU admission and the need for mechanical ventilation due to infection by Omicron versus Delta, remains uncertain. The continuous monitoring of the circulating SARS-CoV-2 variants remains a milestone to counteract this pandemic., Competing Interests: Declaration of Competing Interest None declared., (Copyright © 2023 SPLF and Elsevier Masson SAS. All rights reserved.)

Published
2023
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34. Anti-SARS CoV2 antibody testing in healthcare workers: comparison between rapid-cassette tests, ELISA and CLIA methods.

Author

Pistelli L, Sitzia C, Carrara M, Borlini S, Tejada M, Sammarco G, Fulceri F, Valaperta R, Giubbilini P, Rigolini R, Rampoldi B, Cornetta M, Mazza S, Corino SD, Pettinato A, Ferrari S, Paduraru C, Moroni A, Jance B, Costa E, and Corsi Romanelli MM

Subjects
Humans, COVID-19 diagnosis, COVID-19 Serological Testing methods, Enzyme-Linked Immunosorbent Assay, Health Personnel, Immunoassay methods
Published
2020
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35. Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1.

Author

Voellenkle C, Perfetti A, Carrara M, Fuschi P, Renna LV, Longo M, Sain SB, Cardani R, Valaperta R, Silvestri G, Legnini I, Bozzoni I, Furling D, Gaetano C, Falcone G, Meola G, and Martelli F

Subjects
Adult, Alternative Splicing genetics, Case-Control Studies, Cell Line, Female, Humans, Male, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Myotonic Dystrophy blood, Polymerase Chain Reaction, RNA blood, RNA, Circular, Reproducibility of Results, Gene Expression Regulation, Myotonic Dystrophy genetics, RNA genetics
Abstract

Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by "back-splicing", which is the linking covalently of 3'- and 5'-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence indicates their role in human diseases. Specifically, myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by expanded CTG repeats in the DMPK gene which results in abnormal mRNA-splicing. In this investigation, circRNAs expressed in DM1 skeletal muscles were identified by analyzing RNA-sequencing data-sets followed by qPCR validation. In muscle biopsies, out of nine tested, four transcripts showed an increased circular fraction: CDYL, HIPK3, RTN4&#95;03, and ZNF609. Their circular fraction values correlated with skeletal muscle strength and with splicing biomarkers of disease severity, and displayed higher values in more severely affected patients. Moreover, Receiver-Operating-Characteristics curves of these four circRNAs discriminated DM1 patients from controls. The identified circRNAs were also detectable in peripheral-blood-mononuclear-cells (PBMCs) and the plasma of DM1 patients, but they were not regulated significantly. Finally, increased circular fractions of RTN4&#95;03 and ZNF609 were also observed in differentiated myogenic cell lines derived from DM1 patients. In conclusion, this pilot study identified circRNA dysregulation in DM1 patients.

Published
2019
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36. Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory.

Author

De Siena C, Cardani R, Brigonzi E, Bosè F, Fossati B, Meola G, Costa E, and Valaperta R

Subjects
Female, Humans, Male, Middle Aged, Alleles, Molecular Diagnostic Techniques, Multiplex Polymerase Chain Reaction, Myotonin-Protein Kinase genetics, Nucleic Acid Amplification Techniques, Pathology, Molecular
Abstract

Background: Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the non-coding 3' UTR of the DMPK gene. PCR and Southern Blot Analysis (SBA) of long-range PCR represent the routine molecular testing most widely used for DM1 diagnosis. However, in these conventional methods artifacts such as allele dropout (ADO) represent a risk of misdiagnosis for DM1. Subjects, who show a single product by conventional methods, require a complementary technique such as triplet repeat primed PCR (TP-PCR)., Object: To estimate and minimize the incidence of allele dropout event in our diagnostic molecular laboratory by the use of new kit TP-PCR-based., Methods: We retrospectively studied 190 DMPK alleles, on blood samples from to ninety-five subjects, previously genotyped by traditional methods to validate a new assay. The pedigree of a DM1 family was used to expand our analysis., Results: TP-PCR assay correctly identified all 95/95 (100%) subjects and these results were in agreement with the other molecular laboratory. By conventional methods the amplification failure due to allele dropout in our cohort was in 12/190 (6.3%) DMPK alleles analyzed. When these 12 alleles were detected and solved by new assay, we found that the 2.6% was caused by primer sequence-dependent and the remaining 3.6% by polymerase-hindering secondary structures., Conclusions: Allele dropout could be considered as a potentially important problem in DM1 diagnosis that may lead to the attribution of a wrong genotype with long-term consequences for both proband and family., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Published
2018
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37. SCN4A as modifier gene in patients with myotonic dystrophy type 2.

Author

Binda A, Renna LV, Bosè F, Brigonzi E, Botta A, Valaperta R, Fossati B, Rivolta I, Meola G, and Cardani R

Subjects
Action Potentials physiology, Adult, Chloride Channels genetics, Chloride Channels metabolism, Female, Humans, Male, Membrane Potentials genetics, Membrane Potentials physiology, Middle Aged, Muscle Fibers, Skeletal cytology, Muscle Fibers, Skeletal metabolism, Mutation genetics, Myoblasts cytology, Myoblasts metabolism, NAV1.4 Voltage-Gated Sodium Channel genetics, Sarcolemma genetics, Sarcolemma metabolism, Myotonic Dystrophy genetics, Myotonic Dystrophy metabolism, NAV1.4 Voltage-Gated Sodium Channel metabolism
Abstract

A patient with an early severe myotonia diagnosed for Myotonic Dystrophy type 2 (DM2) was found bearing the combined effects of DM2 mutation and Nav1.4 S906T substitution. To investigate the mechanism underlying his atypical phenotype,whole-cell patch-clamp in voltage- and current-clamp mode was performed in myoblasts and myotubes obtained from his muscle biopsy. Results characterizing the properties of the sodium current and of the action potentials have been compared to those obtained in muscle cells derived from his mother, also affected by DM2, but without the S906T polymorphism. A faster inactivation kinetics and a +5 mV shift in the availability curve were found in the sodium current recorded in patient's myoblasts compared to his mother. 27% of his myotubes displayed spontaneous activity. Patient's myotubes showing a stable resting membrane potential had a lower rheobase current respect to the mother's while the overshoot and the maximum slope of the depolarizing phase of action potential were higher. These findings suggest that SCN4A polymorphisms may be responsible for a higher excitability of DM2 patients sarcolemma, supporting the severe myotonic phenotype observed. We suggest SCN4A as a modifier factor and that its screening should be performed in DM2 patients with uncommon clinical features.

Published
2018
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38. CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients.

Author

Provenzano C, Cappella M, Valaperta R, Cardani R, Meola G, Martelli F, Cardinali B, and Falcone G

Abstract

Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation. No effective therapy is yet available for treatment of the disease. In this study, myogenic cell models were generated from myotonic dystrophy patient-derived fibroblasts. These cells exhibit typical disease-associated ribonuclear aggregates, containing CUG repeats and muscleblind-like 1 protein, and alternative splicing alterations. We exploited these cell models to develop new gene therapy strategies aimed at eliminating the toxic mutant repeats. Using the CRISPR/Cas9 gene-editing system, the repeat expansions were removed, therefore preventing nuclear foci formation and splicing alterations. Compared with the previously reported strategies of inhibition/degradation of CUG expanded transcripts by various techniques, the advantage of this approach is that affected cells can be permanently reverted to a normal phenotype., (Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2017
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39. Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide.

Author

Valaperta R, De Siena C, Cardani R, Lombardia F, Cenko E, Rampoldi B, Fossati B, Brigonzi E, Rigolini R, Gaia P, Meola G, Costa E, and Bugiardini R

Subjects
Adolescent, Adult, Aged, Alleles, Biomarkers metabolism, Child, Cohort Studies, Diabetes Mellitus, Type 1 genetics, Diabetes Mellitus, Type 1 physiopathology, Diabetes Mellitus, Type 2 genetics, Diabetes Mellitus, Type 2 physiopathology, Electrocardiography, Female, Heart Diseases genetics, Heart Diseases physiopathology, Humans, Male, Middle Aged, Myotonic Dystrophy metabolism, Natriuretic Peptide, Brain blood, Outpatients, Peptide Fragments blood, Prognosis, Protein Domains, Registries, Regression Analysis, Young Adult, Myotonic Dystrophy pathology, Natriuretic Peptide, Brain metabolism, Peptide Fragments metabolism, Troponin I metabolism, Troponin T metabolism
Abstract

Background and Aims: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population., Methods: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP. Left ventricular (LV) ejection fraction (EF) was assessed by echocardiography., Results: Genetic analysis revealed that 46 of the 60 patients were DM1, and 14 DM2. Blood measurements showed persistent elevation of hs-cTnT and CK in 55/60 DM patients (91.73%). In contrast, hs-cTnI values were persistently normal throughout the study. Only 2 patients showed an EF <50%, being the overall range of this population between 40% and 79%. We found ECG abnormalities in 19 patients. Of these patients, 13 showed first or second-degree atrio ventricular (AV) blocks (PR interval ≥ 200 ms), 4 showed a left bundle branch block (LBBB) prolonged (QRS duration ≥120 ms), and 2 had an incomplete bundle branch block (QRS duration between 110 and 119 ms). After excluding patients with EF <50%, NT-pro-BNP measurement > 125 pg/mL was an independent predictor of ECG abnormalities., Conclusions: NT-pro-BNP levels may be considered to be used clinically to identify DM patients at increased risk of developing myocardial conduction abnormalities., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Published
2017
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40. Circulating Irisin Is Reduced in Male Patients with Type 1 and Type 2 Myotonic Dystrophies.

Author

Dozio E, Passeri E, Cardani R, Benedini S, Aresta C, Valaperta R, Corsi Romanelli M, Meola G, Sansone V, and Corbetta S

Abstract

Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role., Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters., Design and Study Participants: This is a cross-sectional study. Fasting blood samples for glucometabolic, gonadic, bone markers, and irisin were collected from 28 ambulatory DM1, 10 DM2, and 23 age-matched healthy male subjects. Body composition and bone mineralization [bone mineral density (BMD)] were measured by DEXA. Echocardiographic assessment and visceral adiposity, namely, liver and epicardial fat, were investigated by ultrasound. Irisin released from cultured myotubes derived from 3 DM1, 3 DM2, and 3 healthy donors was assayed., Results: Plasma irisin levels were definitely lower in both DM1 and DM2 patients than in controls with no difference between DM1 and DM2. Irisin released from DM1 and DM2 myotubes was similar to that released from myotubes of the non-DM donors, though diabetic DM2 myotubes released more irisin than DM1 myotubes. There was no correlation between irisin and muscle strength or lean mass in both DM1 and DM2 patients. In DM1 patients, plasma irisin levels correlated negatively with oxygen consumption and positively with insulin resistance, while in DM2 patients plasma irisin levels positively correlated with fat mass at arms and legs levels. No correlation with visceral fat, left ventricular mass, and gonadal hormones could be detected. In both DM1 and DM2 patients, legs BMD parameters positively correlated with plasma irisin levels., Conclusion: Plasma irisin is reduced in both DM1 and DM2 male patients likely reflecting muscle mass reduction. Moreover, insulin resistance may contribute to modulation of plasma irisin in DM1 patients. The irisin-mediated cross talk muscle-adipose tissue-bone may be active also in the male myotonic dystrophies' model.

Published
2017
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41. Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.

Author

Meola G, Biasini F, Valaperta R, Costa E, and Cardani R

Subjects
Humans, Myotonic Dystrophy genetics, Myotonic Dystrophy pathology, Myotonic Dystrophy diagnosis
Abstract

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians. Moreover, the DM2 diagnostic odyssey is complicated by the difficulties to develop an accurate, robust, and cost-effective method for a routine molecular assay. The aim of this review is to underline by challenging approach the diagnostic limits and pitfalls that could results in failure to recognize the presence of DM2 disease. Understanding and preventing delays in DM2 diagnosis may facilitate family planning, improve symptom management in the short term, and facilitate more specific treatment in the long term.

Published
2017
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42. High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study.

Author

Valaperta R, Gaeta M, Cardani R, Lombardi F, Rampoldi B, De Siena C, Mori F, Fossati B, Gaia P, Ferraro OE, Villani S, Iachettini S, Piccoli M, Cirillo F, Pusineri E, Meola G, and Costa E

Subjects
Adult, Biomarkers blood, Case-Control Studies, Female, Heart Diseases complications, Humans, Male, Middle Aged, Risk Factors, Heart Diseases blood, Heart Diseases diagnosis, Myotonic Dystrophy blood, Myotonic Dystrophy complications, Troponin T blood
Abstract

Background: Myotonic dystrophy (DM) is a genetic disorder caused by nucleotide repeats expansion. Sudden death represents the main cause of mortality in DM patients. Here, we investigated the relationship between serum cardiac biomarkers with clinical parameters in DM patients., Methods: Case-control study included 59 DM patients and 22 healthy controls. An additional group of 62 controls with similar cardiac defects to DM were enrolled., Results: NT-proBNP, hs-cTnT and CK levels were significantly increased in DM patients compared to healthy subjects (p=0.0008, p<0.0001, p<0.0001). Also, hs-cTnT levels were significantly higher in DM compared to control group with cardiac defects (p=0.0003). Positive correlation was found between hs-cTnT and hs-cTnI in both DM patients and controls (p=0.019, p=0.002). Independently from the age, the risk of DM disease was positively related to an increase in hs-cTnT (p=0.03). On the contrary, the risk of DM was not related to hs-cTnI, but was evidenced a role of PR interval (p=0.03) and CK (p=0.08)., Conclusions: The levels of hs-cTnT were significantly higher in DM patients. Analysis, with anti-cTnT, shows that this increase might be linked to heart problems. This last finding suggests that hs-cTnT might represent a helpful serum biomarker to "predict" cardiac risk in DM disease., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Published
2016
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43. Long noncoding RNA dysregulation in ischemic heart failure.

Author

Greco S, Zaccagnini G, Perfetti A, Fuschi P, Valaperta R, Voellenkle C, Castelvecchio S, Gaetano C, Finato N, Beltrami AP, Menicanti L, and Martelli F

Subjects
Aged, Animals, Cardiomegaly blood, Cardiomegaly complications, Cardiomegaly genetics, Chronic Disease, Disease Models, Animal, Female, Heart Failure blood, Humans, Male, Mice, Myocardial Ischemia blood, RNA, Long Noncoding metabolism, RNA, Messenger genetics, RNA, Messenger metabolism, Reproducibility of Results, Transcriptome genetics, Gene Expression Regulation, Heart Failure complications, Heart Failure genetics, Myocardial Ischemia complications, Myocardial Ischemia genetics, RNA, Long Noncoding genetics
Abstract

Background: Long noncoding RNAs (lncRNAs) are non-protein coding transcripts regulating a variety of physiological and pathological functions. However, their implication in heart failure is still largely unknown. The aim of this study is to identify and characterize lncRNAs deregulated in patients affected by ischemic heart failure., Methods: LncRNAs were profiled and validated in left ventricle biopsies of 18 patients affected by non end-stage dilated ischemic cardiomyopathy and 17 matched controls. Further validations were performed in left ventricle samples derived from explanted hearts of end-stage heart failure patients and in a mouse model of cardiac hypertrophy, obtained by transverse aortic constriction. Peripheral blood mononuclear cells of heart failure patients were also analyzed. LncRNA distribution in the heart was assessed by in situ hybridization. Function of the deregulated lncRNA was explored analyzing the expression of the neighbor mRNAs and by gene ontology analysis of the correlating coding transcripts., Results: Fourteen lncRNAs were significantly modulated in non end-stage heart failure patients, identifying a heart failure lncRNA signature. Nine of these lncRNAs (CDKN2B-AS1/ANRIL, EGOT, H19, HOTAIR, LOC285194/TUSC7, RMRP, RNY5, SOX2-OT and SRA1) were also confirmed in end-stage failing hearts. Intriguingly, among the conserved lncRNAs, h19, rmrp and hotair were also induced in a mouse model of heart hypertrophy. CDKN2B-AS1/ANRIL, HOTAIR and LOC285194/TUSC7 showed similar modulation in peripheral blood mononuclear cells and heart tissue, suggesting a potential role as disease biomarkers. Interestingly, RMRP displayed a ubiquitous nuclear distribution, while H19 RNA was more abundant in blood vessels and was both cytoplasmic and nuclear. Gene ontology analysis of the mRNAs displaying a significant correlation in expression with heart failure lncRNAs identified numerous pathways and functions involved in heart failure progression., Conclusions: These data strongly suggest lncRNA implication in the molecular mechanisms underpinning HF.

Published
2016
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44. Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2.

Author

Valaperta R, Lombardi F, Cardani R, Fossati B, Brigonzi E, Merli I, Sansone V, Merletti G, Spina E, Meola G, and Costa E

Subjects
Adult, Aged, Cohort Studies, Female, Humans, Male, Middle Aged, Myotonic Dystrophy pathology, Predictive Value of Tests, DNA Repeat Expansion, Myotonic Dystrophy diagnosis, Myotonic Dystrophy genetics, RNA-Binding Proteins genetics, Reagent Kits, Diagnostic
Abstract

Background: Myotonic dystrophy (DM) is the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. Myotonic dystrophy type 2 (DM2) is caused by a [CCTG] expansion in the ZNF9/CNBP gene. The aim of this work was the validation of the new molecular diagnostic test Myotonic Dystrophy type 2 kit-FL., Results: A cohort of 126 individuals was analyzed. The results show that 126/126 patients were correctly identified using the new molecular assay. In particular, 74 were DM2 positive, 39 were DM2/DM1 negative and 13 DM2 negative/DM1 positive. Approximately 9.5% (7/74) of the DM2-positive samples had a single sizeable expansion and 85% (63/74) showed multiple bands or smears. Comparative fluorescence in situ hybridization (FISH) analyses, on muscle biopsies, revealed that the sensitivity and specificity were very high (>99%). Equivalent analytical performances were obtained using different DNA extraction methods. Among affected individuals 87.5% (28/32) had electrical myotonia, 69% (22/32) proximal weakness, 41% (13/32) cataracts, and about 37.5% (12/32) cardiac conduction defects. FISH analysis and clinical data were used to support the genetic analysis.

Published
2015
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45. Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Author

Passeri E, Bugiardini E, Sansone VA, Pizzocaro A, Fulceri C, Valaperta R, Borgato S, Costa E, Bandera F, Ambrosi B, Meola G, Persani L, and Corbetta S

Subjects
Absorptiometry, Photon, Adult, Anti-Mullerian Hormone metabolism, Biomarkers metabolism, Case-Control Studies, Humans, Hypogonadism blood, Inhibins metabolism, Insulin metabolism, Leydig Cells metabolism, Male, Middle Aged, Muscle Strength physiology, Muscle, Skeletal, Myotonic Dystrophy blood, Obesity, Abdominal blood, Proteins metabolism, Sertoli Cells metabolism, Hypogonadism complications, Intra-Abdominal Fat physiology, Myotonic Dystrophy complications, Obesity, Abdominal etiology
Abstract

Background: Hypogonadism occurs in myotonic dystrophies type 1 (MD1) and type 2 (MD2). Sertoli and Leydig cell secretions, including insulin-like peptide-3 (INSL3), anti-Müllerian hormone (AMH) and inhibin B, were evaluated in male patients with MD., Design: Academic settings. Forty-four male patients with MD [31 MD1, 13 MD2, aged 59 (50-64) years, median (interquartile range)], age-, sex- and BMI-matched non-MD hypogonadal patients (n = 14) and healthy controls (n = 32). Serum FSH, LH, inhibin B, AMH, testosterone (T) and INSL3 were measured; fat and muscle masses were evaluated by DEXA., Results: Overt primary hypogonadism occurred in 29% of patients with MD1 and 46% of patients with MD2. Considering subclinical forms, the prevalence increased to 69% of MD1 and 100% of MD2. A half of patients with MD experienced symptoms. INSL3 levels were unaffected in most patients with MD. By contrast, AMH and inhibin B were reduced in most patients with MD and unrelated to age. Patients with MD showed increased body and visceral fat. Free T levels were negatively predicted by fat mass, and AMH and FSH levels were negatively correlated with waist/hip ratio and fat mass. AMH, inhibin B and FSH levels positively correlated with muscle strength and muscle mass., Conclusions: AMH and inhibin B secretion failures are common in male patients with MD and are more severe than Leydig cell hormones impairment. AMH and inhibin B measurements might provide clinical utility in evaluating fertility in patients with MD. Serum T, AMH and inhibin B productions are negatively influenced by increased fat mass, while AMH and inhibin B might be markers of muscle impairment., (© 2015 Stichting European Society for Clinical Investigation Journal Foundation.)

Published
2015
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46. Emergence of Carbapenem-Resistant Klebsiella pneumoniae: Progressive Spread and Four-Year Period of Observation in a Cardiac Surgery Division.

Author

Lombardi F, Gaia P, Valaperta R, Cornetta M, Tejada MR, Di Girolamo L, Moroni A, Ramundo F, Colombo A, Valisi M, and Costa E

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Carbapenems therapeutic use, Child, Child, Preschool, Colistin administration & dosage, Drug Resistance, Bacterial genetics, Female, High-Throughput Nucleotide Sequencing, Humans, Klebsiella Infections drug therapy, Klebsiella Infections microbiology, Klebsiella pneumoniae drug effects, Klebsiella pneumoniae pathogenicity, Male, Middle Aged, Klebsiella Infections genetics, Klebsiella pneumoniae genetics, beta-Lactamases genetics
Abstract

Frequent use of carbapenems has contributed to the increase to K. pneumoniae strains resistant to this class of antibiotics (CRKP), causing a problem in the clinical treatment of patients. This investigation reports the epidemiology, genetic diversity, and clinical implication of the resistance to drugs mediated by CRKP in our hospital. A total of 280 K. pneumoniae strains were collected; in particular 98/280 (35%) were CRKP. Sequencing analysis of CRKP isolated strains showed that 9/98 of MBL-producing strains carried the bla VIM-1 gene and 89/98 of the isolates were positive for bla KPC-2. Antimicrobial susceptibility tests revealed a complete resistance to third-generation cephalosporins and a moderate resistance to tigecycline, gentamicin, and fluoroquinolones with percentages of resistance of 61%, 64%, and 98%, respectively. A resistance of 31% was shown towards trimethoprim-sulfamethoxazole. Colistin was the most active agent against CRKP with 99% of susceptibility. Clonality was evaluated by PFGE and MLST: MLST showed the same clonal type, ST258, while PFGE analysis indicated the presence of a major clone, namely, pulsotype A. This finding indicates that the prevalent resistant isolates were genetically related, suggesting that the spread of these genes could be due to clonal dissemination as well as to genetic exchange between different clones.

Published
2015
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47. Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.

Author

Valaperta R, Rizzo V, Lombardi F, Verdelli C, Piccoli M, Ghiroldi A, Creo P, Colombo A, Valisi M, Margiotta E, Panella R, and Costa E

Subjects
Adenine Phosphoribosyltransferase chemistry, Humans, Male, Middle Aged, Protein Structure, Secondary, Adenine Phosphoribosyltransferase deficiency, Adenine Phosphoribosyltransferase genetics, Codon, Nonsense genetics, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors genetics, Urolithiasis diagnosis, Urolithiasis genetics
Abstract

Background: Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as responsible of the complete inactivation of APRT protein., Case Presentation: In this study, we report a novel nonsense mutation of the APRT gene from a 47- year old Italian patient. The mutation, localized in the exon 5, leads to the replacement of a cytosine with a thymine (g.2098C > T), introducing a stop codon at amino acid position 147 (p.Gln147X).This early termination was deleterious for the enzyme structural and functional integrity, as demonstrated by the structure analysis and the activity assay of the mutant APRT protein., Conclusion: These data revealed that the p.Gln147X mutation in APRT gene might be a new cause of APRT disease.

Published
2014
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48. Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Author

Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, and Meola G

Subjects
Adult, Aged, Alternative Splicing, CELF1 Protein, Case-Control Studies, Chloride Channels genetics, Humans, Middle Aged, Phenotype, RNA, Messenger genetics, RNA, Messenger metabolism, Sarcoplasmic Reticulum Calcium-Transporting ATPases genetics, Young Adult, Gene Expression Regulation, Muscle, Skeletal metabolism, Myotonic Dystrophy genetics, RNA-Binding Proteins genetics
Abstract

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disease-specific features that make them clearly separate diseases suggesting that other cellular and molecular pathways may be involved. In this study we have analysed the histopathological, and biomolecular features of skeletal muscle biopsies from DM1 and DM2 patients in relation to presenting phenotypes to better define the molecular pathogenesis. Particularly, the expression of CUGBP1 protein has been examined to clarify if this factor may act as modifier of disease-specific manifestations in DM. The results indicate that the splicing and muscle pathological alterations observed are related to the clinical phenotype both in DM1 and in DM2 and that CUGBP1 seems to play a role in classic DM1 but not in DM2. In conclusion, our results indicate that multisystemic disease spectrum of DM pathologies may not be explained only by spliceopathy thus confirming that the molecular pathomechanism of DM is more complex than that actually suggested.

Published
2013
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49. Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.

Author

Valaperta R, Sansone V, Lombardi F, Verdelli C, Colombo A, Valisi M, Brigonzi E, Costa E, and Meola G

Subjects
Adult, Alleles, Blotting, Southern, Female, Humans, Male, Middle Aged, Myotonic Dystrophy genetics, Myotonic Dystrophy pathology, Trinucleotide Repeat Expansion genetics, Diagnostic Techniques and Procedures, Myocardium pathology, Myotonic Dystrophy diagnosis, Neuromuscular Junction pathology
Abstract

The expansion of the specific trinucleotide sequence, [CTG], is the molecular pathological mechanism responsible for the clinical manifestations of DM1. Many studies have described different molecular genetic techniques to detect DM1, but as yet there is no data on the analytical performances of techniques used so far in this disease. We therefore developed and validated a molecular method, "Myotonic Dystrophy SB kit," to better characterize our DM1 population. 113 patients were examined: 20 DM1-positive, 11 DM1/DM2-negative, and13 DM1-negative/DM2-positive, who had a previous molecular diagnosis, while 69 were new cases. This assay correctly identified 113/113 patients, and all were confirmed by different homemade assays. Comparative analysis revealed that the sensitivity and the specificity of the new kit were very high (>99%). Same results were obtained using several extraction procedures and different concentrations of DNA. The distribution of pathologic alleles showed a prevalence of the "classical" form, while of the 96 nonexpanded alleles 19 different allelic types were observed. Cardiac and neuromuscular parameters were used to clinically characterize our patients and support the new genetic analysis. Our findings suggest that this assay appears to be a very robust and reliable molecular test, showing high reproducibility and giving an unambiguous interpretation of results.

Published
2013
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50. SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

Author

Frigerio M, Passeri E, de Filippis T, Rusconi D, Valaperta R, Carminati M, Donnangelo A, Costa E, Persani L, Finelli P, and Corbetta S

Subjects
Base Sequence, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22 genetics, Comparative Genomic Hybridization methods, DiGeorge Syndrome diagnosis, DiGeorge Syndrome genetics, Female, Gene Dosage, Gene Frequency, Genetic Testing, Heart Defects, Congenital genetics, Humans, In Situ Hybridization, Fluorescence methods, Male, Molecular Sequence Data, Retrospective Studies, Heart Defects, Congenital diagnosis, Immunoglobulin Light Chains, Surrogate genetics, Polymerase Chain Reaction methods, Polymorphism, Single Nucleotide, Sequence Analysis, DNA methods
Abstract

Background: 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantitative PCR (qPCR) approaches for allelic copy number determination have recently been investigated in 22q11.2 microdeletions detection. The qPCR method was performed for 22q11.2 microdeletions detection as a first-level screening approach in a genetically unknown series of patients with congenital heart defects. A technical issue related to the VPREB1 qPCR marker was pointed out., Methods: A set of 100 unrelated Italian patients with congenital heart defects were tested for 22q11.2 microdeletions by a qPCR method using six different markers. Fluorescence In Situ Hybridization technique (FISH) was used for confirmation., Results: qPCR identified six patients harbouring the 22q11.2 microdeletion, confirmed by FISH. The VPREB1 gene marker presented with a pattern consistent with hemideletion in one 3 Mb deleted patient, suggestive for a long distal deletion, and in additional five non-deleted patients. The long distal 22q11.2 deletion was not confirmed by Comparative Genomic Hybridization. Indeed, the VPREB1 gene marker generated false positive results in association with the rs1320 G/A SNP, a polymorphism localized within the VPREB1 marker reverse primer sequence. Patients heterozygous for rs1320 SNP, showed a qPCR profile consistent with the presence of a hemideletion., Conclusions: Though the qPCR technique showed advantages as a screening approach in terms of cost and time, the VPREB1 marker case revealed that single nucleotide polymorphisms can interfere with qPCR data generating erroneous allelic copy number interpretations.

Published
2011
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