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1. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

2. [Classification of the cardiomyopathies]

Author

Elliott P, Andersson B, Arbustini E, Bilinska Z, Franco Cecchi, Charron P, Dubourg O, Kühl U, Maisch B, Wj, Mckenna, Monserrat L, Pankuwelt S, Rapezzi C, Seferovic P, Tavazzi L, Keren A, Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuwelt S, Rapezzi C, Seferovic P, Tavazzi L, and Keren A

Subjects
Humans, Cardiomyopathies
Published
2008

3. Efficacy of very low dose perindopril 2 mg/indapamide 0.625 mg combination on left ventricular hypertrophy in hypertensive patients: the P.I.C.X.E.L. study rationale and design

Author

GOSSE P., DUBOURG O., SCHMIEDER R, DE LEEUW P.W., DEGAUTE P.J., GARCIA PJ, KARPOV Y., MAGOMETSCHNIGG D., MATOS L., AMOUYEL P., DAHLOF B., DE SIMONE, GIOVANNI, Gosse, P., Dubourg, O., DE SIMONE, Giovanni, Schmieder, R, DE LEEUW, P. W., Degaute, P. J., Garcia, Pj, Karpov, Y., Magometschnigg, D., Matos, L., Amouyel, P., and Dahlof, B.

Published
2002

4. Comparison of the efficacy of rosuvastatin versus atorvastatin in reducing apolipoprotein B/apolipoprotein A-1 ratio in patients with acute coronary syndrome: results of the CENTAURUS study

Author

Jean Marc Lablanche, Attilio, Leone, Bela, Merkely, Joao, Morais, Joaquim, Alonso, Massimo, Santini, Jaan, Eha, Nacima, Demil, Muriel, Licour, Jean Claude Tardif, Fealbert, Centaurus Investigators: F., Alonso Martin, J., Asseman, P., Aymong, E., Ballout, J., Bardaji Ruiz, A., Bayet, G., Bearez, E., Belle, L., Benit, E., Berlemont, C., Bertomeu, V., Blanchard, D., Bonnet, J. L., Boughalem, K., Boughzela, E., Boujnah, M. R., Buffon, A., Cardoso, A., Cardoso, P., Cavallini, C., Celen, H., Cohen, A. A., Constance, C., Coste, P., Crean, P., Crochet, P. D., Czarnecki, W., Danchin, N., Davy, J. M., Decoulx, E., Delarche, N., De Luca, I., Dubois, P., Dubois Rande, J. L., Dubourg, O., Ducas, J., Dzavik, V., Eha, J., Allaf D., El, Elhadad, S., El Mansour, N., Farah, B., Fedele, Francesco, Fernandez Aviles, F. J., Ferreira, J., Foley, D., Fong, P., Gacem, K., Garber, P., Garcia, V. L., Gendreau, R., Ghanem, N., Goulet, G., Grollier, G., Guiomard, A., Gully, C., Habis, M., Haouala, H., Henry, P., Heyndrickx, G., Horvath, I., Hui, W., Huynh Thanh, T., Iliceto, S., Iniguez Romo, A., Jamal, F., Janssens, L., Jimenez Mena, M., Kallikazaros, I., Kassam, S., Kermarrec, A., Khalife, K., Kim, H., Kiss, R. G., Klinke, W. P., Koning, R., Kouz, S., Kyriakides, Z., L'Abbate, A., Labonte, R., Lahaye, S., Leborgne, L., Le May, M., Leone, A., Lepage, S., Lupkovics, G., Martinez Martinez, A., Meany, B., Mechmech, R., Melchior, J. P., Merkely, B., Metz, D., Mimoso, J., Montalescot, G., Morais, J., Moreira, I., Mougeot, G., Mulcahy, D., Nanas, J., Nash, P., Nugue, O., Rodriguez, Padial L., Paganelli, F., Palaic, M., Pereira, L. M., Pitscheider, W., Presbitero, P., Puel, J., Radhakrishnan, S., Reeves, F., Richter, D., Rodes, Cabau J., Rosak, P., Rose, B., Rousseau, J. F., Santini, M., Schampaert, E., Scherillo, M., Serrano Aisa, P., Sugrue, D., Tamburino, C., Tardif, J. C., Teefy, P., Timmerman, P., Title, L., Traisnel, G., Tremblay, B., Tremblay, G., Trimarco, B., Tymchak, W., Vándor, L., Vassanelli, C., Veress, G., Voitk, J., Wolf, J. E., Wong, G., Zámolyi, K., Zanini, R., and Zimmermann, R.

Subjects
Male, medicine.medical_specialty, Acute coronary syndrome, acute coronary syndrome, apolipoproteins, cholesterol, statins, Apolipoprotein B, Atorvastatin, Gastroenterology, chemistry.chemical_compound, Internal medicine, medicine, Clinical endpoint, Humans, Multicenter Studies as Topic, Rosuvastatin, Pyrroles, Acute Coronary Syndrome, Angioplasty, Balloon, Coronary, Rosuvastatin Calcium, Aged, Apolipoproteins B, Sulfonamides, biology, Apolipoprotein A-I, business.industry, Cholesterol, nutritional and metabolic diseases, General Medicine, Cholesterol, LDL, Middle Aged, medicine.disease, Fluorobenzenes, Endocrinology, Pyrimidines, Treatment Outcome, chemistry, Heptanoic Acids, biology.protein, lipids (amino acids, peptides, and proteins), Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, Cardiology and Cardiovascular Medicine, Lipoprotein, medicine.drug
Abstract

Summary Background The mechanism underlying statin-induced event reduction in patients with acute coronary syndrome remains unclear. Aims To assess the efficacy of rosuvastatin 20 mg versus atorvastatin 80 mg in reducing the apolipoprotein B/apolipoprotein A-1 (apoB/apoA-1) ratio at 3 months. Non-inferiority of rosuvastatin 20 mg versus atorvastatin 80 mg in reducing low-density lipoprotein cholesterol at 1 and 3 months was also assessed. Methods Patients with non-ST-elevation acute coronary syndrome were enrolled into this randomized, double blind, parallel-group trial. Results In total, 753 patients (369, rosuvastatin 20 mg; 384, atorvastatin 80 mg) were included in the intention-to-treat analysis; 478 patients (226, rosuvastatin 20 mg; 252, atorvastatin 80 mg) were included in the per-protocol analysis. Rosuvastatin 20 mg was more effective than atorvastatin 80 mg in decreasing apoB/apoA-1 ratio at 1 month (−44.4% vs −42.9%, p = 0.02) but not at 3 months (both −44.4%, p = 0.87). Low-density lipoprotein cholesterol decreased by ∼50% after 1 and 3 months in both groups. Non-inferiority of rosuvastatin 20 mg versus atorvastatin 80 mg was demonstrated at 1 month (difference, −0.3% [95% confidence interval, −2.7; +2.1]), but not at 3 months (+1.0% [−1.6; 3.5]) (intention-to-treat analysis). In the per-protocol analysis, non-inferiority of rosuvastatin 20 mg was demonstrated at both 1 (−0.7% [−3.5; 2.0]) and 3 (−0.5% [−3.5; 2.5]) months. Conclusion In patients with non-ST-elevation acute coronary syndrome, rosuvastatin 20 mg decreased apoB/apoA-1 ratio at 1 month more than atorvastatin 80 mg. No difference could be shown at 3 months; thus, the primary endpoint was not met.

Published
2009

5. Penetrance of familial hypertrophic cardiomyopathy

Author

Charron, P., Carrier, L., Dubourg, O., Tesson, F., Desnos, M., Richard, P., Gisèle Bonne, Guicheney, P., Hainque, B., Bouhour, J. B., Mallet, A., Feingold, J., Schwartz, K., and Komajda, M.

Subjects
Adult, Chromosome Aberrations, Male, Adolescent, Genotype, Genetic Linkage, DNA Mutational Analysis, Chromosome Disorders, Genetic Counseling, Cardiomyopathy, Hypertrophic, Middle Aged, Phenotype, Child, Preschool, Humans, Female, Child, Aged, Genes, Dominant
Abstract

Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant cardiac disease for which the penetrance remains a much-debated issue. Since the recent identification of the genes involved in the disease, the penetrance of FHC has not been reassessed in a large genotyped population. The aim of our study was therefore to evaluate it, according to age and sex, in ten families with previously identified mutations. Among 178 individuals we studied, 90 were genetically affected (9 different mutations in 3 genes). We found that penetrance, assessed by classical echocardiographic and electrocardiographic criteria, was (1) incomplete: 69%; (2) age-related: 55% between 10 and 29 years old, 75% between 30 and 49 y. and 95% over 50 y.; (3) greater in males than in females: 77% vs 58%, age-adjusted odds ratio: 3.98, CI 95%: 1.34 to 11,48; (4) similar for the genes analyzed. The consequences of these results for genetic counseling and linkage analyses are discussed.

Published
1997

7. Diagnostic value of a two-dimensional echocardiographic score for left ventricular hypertrophy validated by the Imatron CT scan in familial hypertrophic cardiomyopathy | Valeur diagnostique d'un score échocardiographique bidimensionnel d'hypertrophie du ventricule gauche validé par scanner Imatron dans la cardiomyopathie hypertrophique familiale

Author

Forissier, J. F., Charron, P., Tézenas Du Montcel, S., Hagège, A., Richard, P., Desnos, M., Schwartz, K., Elie Mousseaux, Komajda, M., and Dubourg, O.

9. The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2

Author

Giovanni Stevanin, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Hm, Cann, Agid Y, and Brice A

Subjects
Adult, Chromosomes, Human, Pair 14, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Base Sequence, Molecular Sequence Data, Chromosome Mapping, Pedigree, Haplotypes, Humans, Female, France, Lod Score, Genes, Dominant, Spinocerebellar Degenerations, Research Article
Abstract

SCA3, the gene for spinal cerebellar ataxia 3, was recently mapped to a 15-cM interval between D14S67 and D14S81 on chromosome 14q, by linkage analysis in two families of French ancestry. The SCA3 candidate region has now been refined by linkage analysis with four new microsatellite markers (D14S256, D14S291, D14S280, and AFM343vf1) in the same two families, in which 19 additional individuals were genotyped, and in a third French family. Combined two-point linkage analyses show that the new markers, D14S280 and AFM343vf1, are tightly linked to the SCA3 locus, with maximal lod scores, at recombination fraction, (theta) = .00, of 7.05 and 13.70, respectively. Combined multipoint and recombinant haplotype analyses localize the SCA3 locus to a 3-cM interval flanked by D14S291 and D14S81. The same allele for D14S280 segregates with the disease locus in the three kindreds. This allele is frequent in the French population, however, and linkage disequilibrium is not clearly established. The SCA3 locus remains within the 29-cM region on 14q24.3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene.

16. Guidelines of European Society of cardiology and French specificities speaking of the diagnosis and treatment of heart failure: Comments from a select Committee of Working Group 'Heart failure and cardiomyopathy' of French Society of cardiology,Recommandations de la société européenne de cardiologie et spécificités françaises concernant le diagnostic et le traitement de l'insuffisance cardiaque chronique: Commentaires par un comité d'experts du gruope de travail 'Insuffisance cardiaque et cardiomyopathies' de la Société française de cardiologie

Author

Yves Juillière, Aumont, M. -C, Aupetit, J. -F, Bouhour, J. -B, Bounhoure, J. -P, Cohen-Solal, A., Groote, P., Delahaye, F., Desnos, M., Dubois-Randé, J. -L, Dubourg, O., Ferrière, M., Gibelin, P., Hagège, A., Isnard, R., Jondeau, G., Komajda, M., and Roul, G.

18. [Non-radioimmunometric NT-ProBNP and BNP assays: impact of diluent, age, gender, BMI]

Author

Alibay, Y., Schmitt, C., Beauchet, A., Dubourg, O., Alexandre, Ja, Boileau, C., Jondeau, G., and HERVE PUY

Subjects
Adult, Aged, 80 and over, Male, Sex Characteristics, Adolescent, Age Factors, Fluorescent Antibody Technique, Reproducibility of Results, Nerve Tissue Proteins, Middle Aged, Peptide Fragments, Body Mass Index, Dyspnea, Luminescent Measurements, Natriuretic Peptide, Brain, Electrochemistry, Humans, Female, Aged
Abstract

We examined the analytical correlation between non-radioimmunometric plasma N-terminal pro-brain natriuretic peptide (NT-proBNP) and B-type natriuretic peptide (BNP) and evaluated whether NT-proBNP or BNP was influenced by age, gender and/or body mass index (BMI). Electro-chemiluminescence (Elecsys, Roche diagnostic) and a single use fluorescence (Triage, Biosite) immunoassays were used to measure NT-proBNP and BNP levels respectively. As a preliminary, seven different diluents usually used in immunoassays were tested and the "speciality diluent" (Ortho Clinical Diagnostic) was validated to increase the linearity of BNP immunoassay above 5000 pg/mL. Data were collected prospectively from patients admitted to the emergency department for acute dyspnea. Plasma BNP and NT-proBNP were measured at admission. Reference diagnosis was adjudicated by 2 independent cardiologists using the European Society of Cardiology guidelines. One hundred and sixty consecutive patients were included: 84 females and 76 males, mean age 80.1 +/- 13.5 (16-98). The analytical correlation between NT-proBNP and BNP was satisfactory using the equation: log10(NT-proBNP) = 1.1xlog10(BNP) + 0.57 and a correlation r = 0.93. This was established over a wide range of concentration (5-6400 pg/mL for BNP). Age and gender were known to influence circulating BNP levels. We showed that the correlation between BNP and NT-proBNP was not influenced by age, gender and body mass index of patients which suggests that the distribution of both peptides was similarly affected by these parameters. We conclude that NT-proBNP, as assayed in the present study, correlates closely with BNP. Used in conjunction with other clinical information, rapid measurement of BNP or NT-proBNP is useful in establishing or excluding the diagnosis of congestive heart failure in patients with acute dyspnea.

19. BIOMARKERS IN CHARCOT-MARIE-TOOTH DISEASE 1A

Author

Fledrich, R., Mannil, M., Leha, A., Solari, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Schnizer, T. J., Angarita, N. G., Haberlova, J., Mazanec, R., Paulus, Walter, Beissbarth, T., Walter, M. C., Hogrel, J. Y., Dubourg, O., Schenone, A., Baets, J., Jonghe, P., Shy, M. E., Horvath, R., Davide Pareyson, Seeman, P., Young, P., and Sereda, M. W.

22. Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

Author

Richard P, Isnard R, Carrier L, Dubourg O, Donatien Y, Mathieu B, Gisèle Bonne, Gary F, Charron P, Hagege M, Komajda M, Schwartz K, and Hainque B

Subjects
Adult, Aged, 80 and over, Male, Heterozygote, Genotype, Myocardium, Original Articles, Cardiomyopathy, Hypertrophic, Middle Aged, Myosins, Pedigree, Phenotype, Haplotypes, Mutation, Humans, Female, Carrier Proteins, Aged
Abstract

Familial hypertrophic cardiomyopathy is a genetically heterogeneous autosomal dominant disease, caused by mutations in several sarcomeric protein genes. So far, seven genes have been shown to be associated with the disease with the β-myosin heavy chain (MYH7) and the cardiac myosin binding protein C (MYBPC3) genes being the most frequently involved. We performed electrocardiography (ECG) and echocardiography in 15 subjects with hypertrophic cardiomyopathy from a French Caribbean family. Genetic analyses were performed on genomic DNA by haplotype analysis with microsatellite markers at each locus involved and mutation screening by single strand conformation polymorphism analysis. Based on ECG and echocardiography, eight subjects were affected and presented a classical phenotype of hypertrophic cardiomyopathy. Two new mutations cosegregating with the disease were found, one located in the MYH7 gene exon 15 (Glu483Lys) and the other in the MYBPC3 gene exon 30 (Glu1096 termination codon). Four affected subjects carried the MYH7 gene mutation, two the MYBPC3 gene mutation, and two were doubly heterozygous for the two mutations. The doubly heterozygous patients exhibited marked left ventricular hypertrophy, which was significantly greater than in the other affected subjects. We report for the first time the simultaneous presence of two pathological mutations in two different genes in the context of familial hypertrophic cardiomyopathy. This double heterozygosity is not lethal but is associated with a more severe phenotype. Keywords: hypertrophic cardiomyopathy; genetics; β-myosin heavy chain gene; cardiac myosin binding protein C gene

25. Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositis

Author

Dubourg O, Wanschitz J, Maisonobe T, Anthony Béhin, Allenbach Y, Herson S, and Benveniste O

Subjects
musculoskeletal diseases, Inflammation, Male, inflammatory myopathy, Biopsy, Patient Selection, education, protein aggregate myopathy, p62, Muscle Fibers, Skeletal, inclusion body myositis, Middle Aged, Articles in Tribute of V. Askanas and K. Engel, Immunohistochemistry, Muscular Dystrophies, Myositis, Inclusion Body, Diagnosis, Differential, Cytoskeletal Proteins, Tar-DNA binding protein-43, mental disorders, parasitic diseases, Humans, Female, Biomarkers
Abstract

Sporadic inclusion body myositis (s-IBM) is characterized histologically by the association of concomitant inflammatory and degenerative processes. We evaluated the sensitivity and specificity of different markers of the degenerative process in order to refine the histological diagnosis. We performed an immunohistochemical study with antibodies directed against ubiquitin, amyloid-beta precursor protein (AbetaPP), amyloid-beta (Abeta), SMI-31, SMI-310, Tar-DNA binding protein-43 (TDP-43) and p62 on s-IBM and control muscle biopsies. Based on conventional stains 36 patients with characteristic clinical features of s-IBM were subclassified as presumed definite s-IBM (d s-IBM, n = 17) or possible s-IBM (p s-IBM, n = 19) according to the presence or absence of vacuolated muscle fibers. Immunohistochemically, TDP-43 and p62 were the most sensitive markers, accumulating in all d s-IBM and in 31% and 37%, respectively, of the p s-IBM cases and thus enabling reclassification of these cases as d s-IBM. We recommend using TDP-43 and p62 antibodies in the histological diagnosis workup of s-IBM. The specificity of these markers has to be further validated in prospective series.

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