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2. A roadmap to coastal and marine ecological restoration in Australia

Author

Saunders, MI, Cannard, T, Fischer, M, Sheppard, M, Twomey, A, Morris, R, Bishop, MJ, Mayer-Pinto, M, Malcolm, F, Vozzo, M, Steven, A, Swearer, SE, Lovelock, CE, Pomeroy, AWM, McLeod, I, Waltham, NJ, Saunders, MI, Cannard, T, Fischer, M, Sheppard, M, Twomey, A, Morris, R, Bishop, MJ, Mayer-Pinto, M, Malcolm, F, Vozzo, M, Steven, A, Swearer, SE, Lovelock, CE, Pomeroy, AWM, McLeod, I, and Waltham, NJ

Published
2024

8. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R., Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., and Bezzina C. R.

Abstract

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes—rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10−18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10−13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case–control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Published
2021

10. Analysis of buccal mucosa as a prognostic tool in children with arrhythmogenic cardiomyopathy

Author

Bueno Beti, C, Field, E, Tsatsopoulou, A, Perry, G, Sheppard, M, Behr, ER, Saffitz, JE, Kaski, JP, and Asimaki, A

Abstract

Background\ud The diagnosis of arrhythmogenic cardiomyopathy (ACM) is challenging especially in children at risk of adverse events. Analysis of cardiac myocyte junctional protein distribution may have diagnostic and prognostic implications, but its utility is limited by the need for a myocardial sample. We previously reported that buccal mucosa cells show junctional protein redistribution similar to that seen in cardiac myocytes of adult patients with ACM.\ud \ud Objectives\ud We aimed to determine when junctional protein distribution abnormalities first occur in children with ACM variants and whether they correlate with progression of clinically apparent disease.\ud \ud Methods\ud We analyzed buccal mucosa samples of children and adolescents with a family history of ACM (n = 13) and age-matched controls (n = 13). Samples were immunostained for plakoglobin, desmoplakin, plakophilin-1 and connexin43 and analyzed by confocal microscopy. All participants were swabbed at least twice with an average interval of 12–18 months between samplings.\ud \ud Results\ud Junctional protein re-localization in buccal mucosa cells did not correlate with the presence of ACM-causing variants but instead occurred with clinical onset of disease. No changes in protein distribution were seen unless and until there was clinical evidence of disease. In addition, progressive shifts in the distribution of key proteins correlated with worsening of the disease phenotype. Finally, we observed restoration of junctional signal for Cx43 in patient with a favorable response to anti-arrhythmic therapy.\ud \ud Conclusions\ud Due to ethical concerns about obtaining heart biopsies in children with no apparent disease, it has not been possible to analyze molecular changes in cardiac myocytes with the onset/progression of clinical disease. Using buccal smears as a surrogate for the myocardium may facilitate future studies of mechanisms and pathophysiological consequences of junctional protein redistribution in ACM. Buccal cells may also be a safe and inexpensive tool for risk stratification and potentially monitoring response to treatment in children bearing ACM variants.

Published
2022

12. Sudden cardiac arrest in sports - need for uniform registration: A Position Paper from the Sport Cardiology Section of the European Association for Cardiovascular Prevention and Rehabilitation

Author

Solberg, E E, Borjesson, M, Sharma, S, Papadakis, M, Wilhelm, M, Drezner, J A, Harmon, K G, Alonso, J M, Heidbuchel, H, Dugmore, D, Panhuyzen-Goedkoop, N M, Mellwig, K-P, Carre, F, Rasmusen, H, Niebauer, J, Behr, E R, Thiene, G, Sheppard, M N, Basso, C, and Corrado, D

Published
2016
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13. Ethics and social acceptability of a proposed clinical trial using maternal gene therapy to treat severe early-onset fetal growth restriction

Author

Sheppard, M., Spencer, R. N., Ashcroft, R., David, A. L., Ambler, Gareth, Brodszki, Jana, Campbell, David, Diemert, Anke, Figueras, Francesc, Hansson, Stefan, Hecher, Kurt, Huertas-Ceballos, Angela, Lees, Mark, Ley, David, Marlow, Neil, Marsal, Karel, Martin, John, Morsing, Eva, Peebles, Donald M., Sebire, Neil, and Zachary, Ian

Published
2016
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15. Comparing Class-Based and Home-Based Exercise for Older Adults With Chronic Health Conditions: 12-Month Follow-Up of a Randomized Clinical Trial.

Author

Fisher, Koren L., Reeder, Bruce A., Harrison, Elizabeth L., Bruner, Brenda G., Ashworth, Nigel L., Pahwa, Punam, Sari, Nazmi, Sheppard, M. Suzanne, Shields, Christopher A., and Chad, Karen E.

Subjects
CHRONIC disease treatment, GERIATRIC assessment, BLOOD pressure, CARDIOVASCULAR system physiology, COMPARATIVE studies, EXERCISE tests, EXERCISE therapy, HEALTH status indicators, MOTOR ability, MUSCLE strength, PHYSICAL fitness, SELF-evaluation, STATISTICS, STRETCH (Physiology), TIME, DATA analysis, BODY mass index, RANDOMIZED controlled trials, PHYSICAL activity, WAIST circumference, OLD age
Abstract

Objective: To assess the maintenance of physical activity (PA) and health gains among participants in a class-based (CB) or home-based (HB) PA intervention over a 12-month study period. Methods: A total of 172 adults aged 50 years and older were randomly allocated to either a CB or an HB intervention, each involving an intensive 3-month phase with a 9-month follow-up period. Measures at baseline, 3, 6, and 12 months included self-reported PA and health, body mass index, waist circumference (WC), blood pressure, cardiovascular endurance (6-min walk test), physical function, and functional fitness (senior fitness test). Outcomes were analyzed using generalized estimating equations. Results: Maximum improvement was typically observed at 3 or 6 months followed by a modest diminution, with no differences between groups. For body mass index, waist circumference, 6-min walk test, and senior fitness test, there was progressive improvement through the study period. Greater improvement was seen in the CB group compared with the HB group on three items on the senior fitness test (lower body strength and endurance [29% vs. 21%, p <.01], lower body flexibility [2.8 cm vs. 0.4 cm, p <.05], and dynamic agility [14% vs. 7%, p <.05]). Conclusion: The interventions were largely comparable; thus, availability, preferences, and cost may better guide program choice. [ABSTRACT FROM AUTHOR]

Published
2018
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16. Predictors of Physical Activity Levels in Community-Dwelling Older Adults: A Multivariate Approach Based on a Socio-Ecological Framework.

Author

Fisher, Koren L., Harrison, Elizabeth L., Bruner, Brenda G., Lawson, Joshua A., Reeder, Bruce A., Ashworth, Nigel L., Sheppard, M. Suzanne, and Chad, Karen E.

Subjects
CONCEPTUAL structures, HOME care services, LIFE skills, MULTIVARIATE analysis, NURSING care facilities, SELF-efficacy, SELF-evaluation, SOCIAL support, SENIOR housing, INDEPENDENT living, CROSS-sectional method, PHYSICAL activity
Abstract

The purpose of this study was to explore cross-sectional relationships between self-reported physical activity (PA) and personal, social, and environmental factors in community-dwelling adults aged 50 years and older. Accounting for clustering by neighborhood, generalized estimating equations were used to examine associations between selected correlates and the Physical Activity Scale for the Elderly (PASE) score while adjusting for confounders. Data for 601 participants were analyzed: 79% female, 37% married, mean age 76.8 (± 8.7) years, mean PASE score 112.6 (± 64.8). Age, living in seniors' housing, using nursing/home care services, receiving encouragement to be active, and having benches available in the neighborhood were inversely associated with PASE. Self-efficacy, SF-12 score, PA barriers, social support, and the presence of trails showed positive associations. Several personal, social, and environmental factors associated with PA were identified. The inverse association between PA and living in seniors' housing units should be considered when developing PA programs for older adults. [ABSTRACT FROM AUTHOR]

Published
2018
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29. Diagnosis and treatment of acromegaly complications

Author

Giustina, A., Casanueva, F. F., Cavagnini, F., Chanson, P., Clemmons, D., Frohman, L. A., Gaillard, R., Ho, K., Jaquet, P., Kleinberg, D. L., Lamberts, S. W. J., Lombardi, G., Sheppard, M., Strasburger, C. J., Vance, M. L., Wass, J. A. H., and Melmed, S.

Published
2003
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35. Spontaneous coronary artery dissection: novel pathophysiological insights from histological and ultrastructural tissue analysis

Author

Margaritis, M, primary, Saini, F, additional, Baranowska, A, additional, Parsons, S, additional, Vink, A, additional, Budgeon, C, additional, Alcock, N, additional, Wagner, B, additional, Samani, N, additional, Robertus, J.L, additional, Von Der Thusen, J, additional, Sheppard, M, additional, and Adlam, D, additional

Published
2020
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