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1. The 10th Santorini conference: Systems medicine, personalised health and therapy. 'The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind', Santorini, Greece, 23–26 May 2022

Author

Sophie Visvikis-Siest, Maria G. Stathopoulou, Raute Sunder-Plassmann, Behrooz Z. Alizadeh, Robert Barouki, Ekaterina Chatzaki, Georges Dagher, George Dedoussis, Panagiotis Deloukas, Alexander Haliassos, Brigitte Boisson Hiegel, Vangelis Manolopoulos, Christine Masson, Guillaume Paré, Markus Paulmichl, Alexandros M. Petrelis, Csilla Sipeky, Belgin Süsleyici, Georges Weryha, Alex Chenchik, Paul Diehl, Robin E. Everts, Alexander Haushofer, John Lamont, Ruth Mercado, Heiko Meyer, Herna Munoz-Galeano, Helena Murray, Ferrier Nhat, Charity Nofziger, Wolfgang Schnitzel, and Stavroula Kanoni

Subjects
systems medicine, personalized medicine, pharmacogenomics, medical diagnostic, cancer, heart inflammation, Genetics, QH426-470
Published
2023
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5. Odanacatib for the treatment of postmenopausal osteoporosis: results of the LOFT multicentre, randomised, double-blind, placebo-controlled trial and LOFT Extension study

Author

Mautalén, Carlos Alfredo, Man, Zulema, Zanchetta, Jose Ruben, Magaril, Clelia Haydee, Sambrook, Philip, Reginster, Jean-Yves, Geusens, Piet, Goemaere, Stefan, Albergaria, Ben Hur, Zerbini, Cristiano Augusto de Freitas, Castro, Marise Lazaretti, Gregorio, Luiz Henrique, Stoilov, Rumen, Borissova, Anna-Maria I, Hristozov, Kiril Hristov, Temelkova, Nataliya L, Daskalova, Ivona Kirilova, Kuzmanova, Stefka Ivanova, Yaneva-Bichovska, Daniela, Batalov, Anastas Zgurov, Riedemann, Pablo, Rodriguez Portales, José Adolfo, Tang, Hai, Zhu, hanmin, Zhang, Zhenlin, Chao, Aijun, Hu, Yali, Liu, Zhiming, Lu, Juming, Qiu, Mingcai, Gao, Xin, Zhang, Shaofen, Xu, Ling, Xia, Weibo, Liao, Eryuan, Yang, Wenying, Wu, Wen, Dai, Kerong, Hu, Renming, Jaller, Juan Jose, Cabal, Francisco, Molina, José Fernando, Cure Cure, Carlos A, Yupanqui-Lozno, Hernan, Chalem, Philippe, Londono, John, Abello, Mauricio, Tobias, Edgardo D, Otero, William, Nikolic, Tatjana, Miskic, Blazenka, Stepan, Jan, Vyskocil, Vaclav, Novosad, Libor, Slesinger, Jan, Novosad, Pavel, Vlckova, Erika, Bortlik, Ladislav, Dokoupilova, Eva, Hala, Tomas, Jensen, Jens-Erik Beck, Brixen, Kim Torsten, Langdahl, Bente Lomholt, Schwarz, Peter, Eskildsen, Peter Claes, Eiken, Pia Agnete, Hermann, Anne Pernille, Gram, Jeppe, Schou, Maiken Brix, Alexandersen, Peter, Nedergaard, Bettina, Mejía, Dolores Magdalena, Estrella De Henriquez, Lourdes, Páez, Norka, Velazco, Casimiro, Valter, Ivo, Vahula, Kadri-Liina, Kull, Ingrid, Maasalu, Katre, Chapurlat, Roland, Fardellone, Patrice, Benhamou, Claude Laurent, Roux, Christian, Weryha, Georges, Herkt, Volkmar, Martz, Rene, Nischik, Ruth, Spieler, Wolfgang, Contzen, Christel, Felsenberg, Dieter, Frieling, Isolde, Frahm, Eike, Briones, Henry, Sandoval, Boris, Barrios, Patricia, García, Abraham, Avendaño, Carlos, González, Magdalena, Guerra, Jeremías, Tuna, Maria, Díaz, Olga Marina, Samayoa, Eduardo, López, Edgar, Barrera, José Raúl, Palencia, Mainor, Cifuentes, Mayra, Alvarado, Georgina, López, Miriam, Chavez, Nilmo, Haase, Franklin, Rivera, Ruddy, González, Claudio, Tan, Kathryn, Leung, Ping Chung, Mandalam, Sheshadri, Pitale, Shailesh Umakant, Bantwal, Ganapathi, Ammini, Ariachery Chinamma, Shaikh, Shehla Sajid Akhta, Kanakatte Mylariah, Prasanna Kumar, Dharmalingam, Mala, Mukhopadhyay, Satinath, Jain, Arpit, Singh, Parminder, Shetty, Naresh, Sathyanarayana, Srikanta Shamanna, Shah, Nalini, Chadha, Manoj Dharam, Bhandankar, Rajendra, Velayutham, Kumaravel, Marwah, Sudha, John, Mathew, Sahay, Rakesh Kumar, Adami, Silvano, Nuti, Ranuccio, Bianchi, Gerolamo, Brandi, Maria Luisa, Minisola, Salvatore, Fiore, Carmelo Erio, Rubinacci, Alessandro, Miyajima, Hisayuki, Yamane, Hiroo, Nakatani, Yuji, Okamoto, Sumiaki, Kuroda, Koji, Fujimori, Motoaki, Itabashi, Akira, Katayama, Kuniaki, Nakajo, Satoru, Somekawa, Yoshiaki, Ohsawa, Yoshimitsu, Tajima, Wataru, Mizuno, Katsunori, Mori, Shigeru, Kanabuchi, Takato, Hashizume, Hiroyuki, Oka, Nobuyuki, Hamada, Kazutoshi, Yamaguchi, Motoi, Hirahara, Fumiki, Atobe, Masaaki, Ohtake, Yoshiharu, Ichikawa, Shuichi, Onishi, Tomoyuki, Matsumoto, Kou, Nakamura, Tetsuro, Shirasawa, Eishi, Katayama, Ko, Takahashi, Mitsugu, Oguma, Tadanori, Matsui, Hideo, Katoh, Yoshiharu, Shigenobu, Keiichi, Onishi, Tsutomu, Shibukawa, Masato, Ikeda, Satoshi, Osaka, Kazuhiro, Kanda, Ryosuke, Inobe, Yoshito, Shigenobu, Masaharu, Hasegawa, Morimasa, Yamaji, Tetsuo, Miyazaki, Yu, Ito, Takayasu, Nakamura, Eisuke, Nagai, Shinji, Lim, Sung-Kil, Chung, Yoon-Sok, Shin, Chan-Soo, Min, Yong-Ki, Kim, Ghi Su, Yoon, Hyun Koo, Kang, Moo-Il, Yang, Kyu-Hyun, Park, Hyoung Moo, Kim, In Joo, Chung, Dong Jin, Chung, Ho Yeon, Jaundzeikare, Sandra, Andersone, Dace, Medne, Agita, Yaghi, Yasser, Alekna, Vidmantas, Kasiulevicius, Vytautas, Purtokaite - Labutiniene, Irina, Krasauskiene, Aurelija, Varanaviciene, Jurate, Basijokiene, Vida, Abraitiene, Agne, Radzeviciene, Lina, Walliser, Jesus, García Hernández, Pedro Alberto, Araujo, Maria Frida, Avila Armengol, Hilario Ernesto, De la Peña, Pilar, Tamayo, Juan, Zazueta, Beatriz, Cons, Fidencio, Gilchrist, Nigel Leslie, Reid, Ian Reginald, Leikis, Robert, Jones, Peter, Singh, Joe Gragrath Pradeep, Halse, Johan Inge, Syversen, Unni, Høivik, Hans Olav, Øfjord, Erik Snorre, Gulseth, Hans Christian, Elle, Sigbjørn, Norheim, Paal Dag, Calvo Quiroz, Armando A., Cesar Augusto, Pastor A., León Portocarrero, Manuel Gustavo, Vidal Neira, Luis Fernando, Chavez, Jose, Garro Barrera, Boris, Kuroiwa Sampei, Rita, Luis Fernando, Bellatín V., Oquelis Cabredo, Rogger, Castillo, Sonia, Morales, Agustin Miguel G, Tan, Perry Pua, Leagogo, Liberato Antonio C, Jr., Wang, Edward HM, Li-Yu, Julie T, Sawicki, Andrzej Z, Stasiuk, Barbara, Kania, Grzegorz, Lorenc, Roman, Sidorowicz-Bialynicka, Anna, Szczepanski, Leszek, Franek, Edward, Filip, Rafal, Sekula, Jan, Blicharski, Tomasz, Leszczynski, Piotr, Sewerynek, Ewa, Miazgowski, Tomasz, Milewicz, Andrzej, Dabrowska, Magda, Romaszko, Jerzy, Pluskiewicz, Wojciech, Wojnowski, Lukasz, Codreanu, Catalin, Bolosiu, Horatiu, Ionescu, Ruxandra, Zosin, Ioana, Macovei, Liviu, Bojinca, Mihai, Radulescu, Florin, Pop, Simona, Sarbu, Adrian, Benevolenskaya, Lidia I, Nasonov, Evgeny L, Rozhinskaya, Lyudmila Ya, Oganov, Raphael G, Rodionova, Svetlana S, Shlyakhto, Eugeny Vladimirovich, Trofimov, Vasiliy, Zotkin, Eugeny G, Zazerskaya, Irina E, Grineva, Elena N, Ershova, Olga, Lesnyak, Olga, Ostroumova, Olga D, Malichenko, Svetlana B, Pikhlak, Eduard G, Pilyaev, Valery G, Raskina, Tatiana, Zonova, Elena V, Shirinsky, Valery S, Dimic, Aleksandar N, Cobeljic, Goran, Vujovic, Svetlana, Ellis, Graham Charlston, Lipschitz, Stanley, De Villiers, Tobias Johannes, De Weerd, Albert Jan, Vally, Tasneem, Trinder, Yvonne, Coetsee, Jacobus Ludewikus, Davis, Charles Pierre, Nayiager, Savithree, Hough, Frans Stephanus, Oelofse, Louis F, van der Walt, Eugene, Lombaard, Johannes Jurgens, Blignaut, Suzanne, Govind, Uttam, Fouche, Leon Frederik, Kruger, Dawid Stephanus, Dalmeyer, Johannes Paul, Ferreira, Mada M, Escudero-Contreras, Alejandro, Muñoz Torres, Manuel, Hawkins Carranza, Federico, Perez Castrillon, Jose Luis, García Meijide, Juan Antonio, Jodar Gimeno, Esteban, Palacios Gil-Antuñana, Santiago, de Teresa Parreno, Luis, Martín Mola, Emilio, Alvarez Sanchez, Carmen, Lippuner, Kurt, Tsai, Keh-Sung, Tu, Shih-Te, Chen, Jung-Fu, Lee, Oscar Kuang-Sheng, Hsu, Wen-Wei, Grygorieva, Natalia Viktorivna, Povoroznyuk, Vladyslav Volodymyrovych, Korzh, Mykola Oleksiiovych, Loskutov, Oleksandr Levgeniiovych, Chukov, Andriy Borysovych, Sarmiento, Rex, Thomas, Hawys, Donnachie, Hugh, Pavel-Knox, Irina, Shaw, Hilary, Hassanin, Hana, Abdulhakim, Essam Eldin Ahmed, Savani, Naren, Bachmann, Gloria A, Barrett-Connor, Elizabeth, Binkley, Neil C, Bone, Henry G, Brandon, Donald M, Checketts, Darin David, Fraser, Neil J, Watts, Nelson B, Geller, Steven A, Gimbel, Joseph S, Greenwald, Maria White, Holt, Peter A, Johnston, Cyrus Conrad, Fang, Chien, Kiel, Douglas P, Klashman, David J, Lewiecki, E. Michael, Lowenstein, Mitchell B, McClung, Michael Roy, Nattrass, Susan M, Odio, Alberto, Levengood, Julie, Romaguera, Josefina, Saag, Kenneth G, Sebai, Mohamed Bassam, Snyder, Brian, Kutner, Mark Eliot, Streja, Dan, Schwartz, Elliott P, Christiansen, Mark G, McClung, Michael R, O'Donoghue, Michelle L, Papapoulos, Socrates E, Bone, Henry, Langdahl, Bente, Reid, Ian R, Cavallari, Ilaria, Bonaca, Marc P, Wiviott, Stephen D, de Villiers, Tobias, Ling, Xu, Nakamura, Toshitaka, Rodriguez-Portales, Jose Adolfo, Zanchetta, José, Zerbini, Cristiano A F, Park, Jeong-Gun, Im, KyungAh, Cange, Abby, Grip, Laura T, Heyden, Norman, DaSilva, Carolyn, Cohn, Dosinda, Massaad, Rachid, Scott, Boyd B, Verbruggen, Nadia, Gurner, Deborah, Miller, Deborah L, Blair, Micki L, Polis, Adam B, Stoch, S Aubrey, Santora, Arthur, Lombardi, Antonio, Leung, Albert T, Kaufman, Keith D, and Sabatine, Marc S

Published
2019
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11. A comprehensive fracture prevention strategy in older adults: The European union geriatric medicine society (EUGMS) statement

Author

Alvarez, M.N., Annweiler, C., Bernard, P.-L., Beswetherick, N., Bischoff-Ferrari, H.A., Bloch, F., Boddaert, J., Bonnefoy, M., Bousson, V., Bourdel-Marchasson, I., Capisizu, A., Che, H., Clara, J.G., Combe, B., Delignieres, D., Eklund, P., Emmelot-Vonk, M., Freiberger, E., Gauvain, J.-B., Goswami, N., Guldemond, N., Herrero, Á.C., Joël, M.-E., Jónsdóttir, A.B., Kemoun, G., Kiss, I., Kolk, H., Kowalski, M.L., Krajcík, Š., Kutsal, Y.G., Lauretani, F., Macijauskienė, J., Mellingsæter, M., Morel, J., Mourey, F., Nourashemi, F., Nyakas, C., Puisieux, F., Rambourg, P., Ramírez, A.G., Rapp, K., Rolland, Y., Ryg, J., Sahota, O., Snoeijs, S., Stephan, Y., Thomas, E., Todd, C., Treml, J., Adachi, R., Agnusdei, D., Body, J.-J., Breuil, V., Bruyère, O., Burckardt, P., Cannata-Andia, J.B., Carey, J., Chan, D.-C., Chapuis, L., Chevalley, T., Cohen-Solal, M., Dawson-Hughes, B., Dennison, E.M., Devogelaer, J.-P., Fardellone, P., Féron, J.-M., Perez, A.D., Felsenberg, D., Glueer, C., Harvey, N., Hiligsman, M., Javaid, M.K., Jörgensen, N.R., Kendler, D., Kraenzlin, M., Laroche, M., Legrand, E., Leslie, W.D., Lespessailles, E., Lewiecki, E.M., Nakamura, T., Papaioannou, A., Roux, C., Silverman, S., Henriquez, M.S., Thomas, T., Vasikaran, S., Watts, N.B., Weryha, G., Blain, H., Masud, T., Dargent-Molina, P., Martin, F.C., Rosendahl, E., van der Velde, N., Bousquet, J., Benetos, A., Cooper, C., Kanis, J.A., Reginster, J.Y., Rizzoli, R., Cortet, B., Barbagallo, M., Dreinhöfer, K., Vellas, B., Maggi, S., and Strandberg, T.

Published
2016
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12. Score de l’os trabéculaire : le point

Author

Bousson, Valérie, Bergot, Catherine, Sutter, Bruno, Thomas, Thierry, Bendavid, Sauveur, Benhamou, Claude-Laurent, Blain, Hubert, Brazier, Michel, Breuil, Véronique, Briot, Karine, Chapurlat, Roland, Chapuis, Laure, Cohen Solal, Martine, Fardellone, Patrice, Feron, Jean-Marc, Gauvain, Jean-Bernard, Laroche, Michel, Legrand, Erick, Lespessailles, Eric, Linglart, Agnès, Marcelli, Christian, Roux, Christian, Souberbielle, Jean-Claude, Tremollieres, Florence, Weryha, Georges, and Cortet, Bernard

Published
2016
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17. The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, santorini, Greece, 23–26 May 2022

Author

Visvikis-Siest, Sophie, primary, Stathopoulou, Maria G., additional, Sunder-Plassmann, Raute, additional, Alizadeh, Behrooz Z., additional, Barouki, Robert, additional, Chatzaki, Ekaterina, additional, Dagher, Georges, additional, Dedoussis, George, additional, Deloukas, Panagiotis, additional, Haliassos, Alexander, additional, Hiegel, Brigitte Boisson, additional, Manolopoulos, Vangelis, additional, Masson, Christine, additional, Paré, Guillaume, additional, Paulmichl, Markus, additional, Petrelis, Alexandros M., additional, Sipeky, Csilla, additional, Süsleyici, Belgin, additional, Weryha, Georges, additional, Chenchik, Alex, additional, Diehl, Paul, additional, Everts, Robin E., additional, Haushofer, Alexander, additional, Lamont, John, additional, Mercado, Ruth, additional, Meyer, Heiko, additional, Munoz-Galeano, Herna, additional, Murray, Helena, additional, Nhat, Ferrier, additional, Nofziger, Charity, additional, Schnitzel, Wolfgang, additional, and Kanoni, Stavroula, additional

Published
2023
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19. Trabecular Bone Score: Where are we now?

Author

Bousson, Valérie, Bergot, Catherine, Sutter, Bruno, Thomas, Thierry, Bendavid, Sauveur, Benhamou, Claude-Laurent, Blain, Hubert, Brazier, Michel, Breuil, Véronique, Briot, Karine, Chapurlat, Roland, Chapuis, Laure, Cohen Solal, Martine, Fardellone, Patrice, Feron, Jean-Marc, Gauvain, Jean-Bernard, Laroche, Michel, Legrand, Erick, Lespessailles, Eric, Linglart, Agnès, Marcelli, Christian, Roux, Christian, Souberbielle, Jean-Claude, Tremollieres, Florence, Weryha, Georges, and Cortet, Bernard

Published
2015
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25. Usefulness of bone density measurement in fallers

Author

Blain, Hubert, Rolland, Yves, Beauchet, Olivier, Annweiler, Cedric, Benhamou, Claude-Laurent, Benetos, Athanase, Berrut, Gilles, Audran, Maurice, Bendavid, Sauveur, Bousson, Valérie, Briot, Karine, Brazier, Michel, Breuil, Véronique, Chapuis, Laure, Chapurlat, Roland, Cohen-Solal, Martine, Cortet, Bernard, Dargent, Patricia, Fardellone, Patrice, Feron, Jean-Marc, Gauvain, Jean-Bernard, Guggenbuhl, Pascal, Hanon, Olivier, Laroche, Michel, Kolta, Sami, Lespessailles, Éric, Letombe, Brigitte, Mallet, Éric, Marcelli, Christian, Orcel, Philippe, Puisieux, François, Seret, Patrick, Souberbielle, Jean-Claude, Sutter, Bruno, Trémollières, Florence, Weryha, Georges, Roux, Christian, and Thomas, Thierry

Published
2014
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27. Intérêt de l’ostéodensitométrie chez les sujets chuteurs

Author

Blain, Hubert, Rolland, Yves, Beauchet, Olivier, Annweiler, Cedric, Benhamou, Claude-Laurent, Benetos, Athanase, Berrut, Gilles, Audran, Maurice, Bendavid, Sauveur, Bousson, Valérie, Briot, Karine, Brazier, Michel, Breuil, Véronique, Chapuis, Laure, Chapurlat, Roland, Cohen-Solal, Martine, Cortet, Bernard, Dargent, Patricia, Fardellone, Patrice, Feron, Jean-Marc, Gauvain, Jean-Bernard, Guggenbuhl, Pascal, Hanon, Olivier, Laroche, Michel, Kolta, Sami, Lespessailles, Eric, Letombe, Brigitte, Mallet, Eric, Marcelli, Christian, Orcel, Philippe, Puisieux, François, Seret, Patrick, Souberbielle, Jean-Claude, Sutter, Bruno, Trémollières, Florence, Weryha, Georges, Roux, Christian, and Thomas, Thierry

Published
2014
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28. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

Author

Castinetti, Frederic, Qi, Xiao-Ping, Walz, Martin K, Maia, Ana Luiza, Sansó, Gabriela, Peczkowska, Mariola, Hasse-Lazar, Kornelia, Links, Thera P, Dvorakova, Sarka, Toledo, Rodrigo A, Mian, Caterina, Bugalho, Maria Joao, Wohllk, Nelson, Kollyukh, Oleg, Canu, Letizia, Loli, Paola, Bergmann, Simona R, Costa, Josefina Biarnes, Makay, Ozer, Patocs, Attila, Pfeifer, Marija, Shah, Nalini S, Cuny, Thomas, Brauckhoff, Michael, Bausch, Birke, von Dobschuetz, Ernst, Letizia, Claudio, Barczynski, Marcin, Alevizaki, Maria K, Czetwertynska, Malgorzata, Ugurlu, M Umit, Valk, Gerlof, Plukker, John T M, Sartorato, Paola, Siqueira, Debora R, Barontini, Marta, Szperl, Malgorzata, Jarzab, Barbara, Verbeek, Hans H G, Zelinka, Tomas, Vlcek, Petr, Toledo, Sergio P A, Coutinho, Flavia L, Mannelli, Massimo, Recasens, Monica, Demarquet, Lea, Petramala, Luigi, Yaremchuk, Svetlana, Zabolotnyi, Dmitry, Schiavi, Francesca, Opocher, Giuseppe, Racz, Karoly, Januszewicz, Andrzej, Weryha, Georges, Henry, Jean-Francois, Brue, Thierry, Conte-Devolx, Bernard, Eng, Charis, and Neumann, Hartmut P H

Published
2014
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32. Treatment of osteoporosis in men

Author

Kaufman, J.-M., Reginster, J.-Y., Boonen, S., Brandi, M.L., Cooper, C., Dere, W., Devogelaer, J.-P., Diez-Perez, A., Kanis, J.A., McCloskey, E., Mitlak, B., Orwoll, E., Ringe, J.D., Weryha, G., and Rizzoli, R.

Published
2013
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34. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

Author

Bausch, Birke, Schiavi, Francesca, Ni, Ying, Welander, Jenny, Patocs, Attila, Ngeow, Joanne, Wellner, Ulrich, Malinoc, Angelica, Taschin, Elisa, Barbon, Giovanni, Lanza, Virginia, Söderkvist, Peter, Stenman, Adam, Larsson, Catharina, Svahn, Fredrika, Chen, Jin-Lian, Marquard, Jessica, Fraenkel, Merav, Walter, Martin A., Peczkowska, Mariola, Prejbisz, Aleksander, Jarzab, Barbara, Hasse-Lazar, Kornelia, Petersenn, Stephan, Moeller, Lars C., Meyer, Almuth, Reisch, Nicole, Trupka, Arnold, Brase, Christoph, Galiano, Matthias, Preuss, Simon F., Kwok, Pingling, Lendvai, Nikoletta, Berisha, Gani, Makay, Özer, Boedeker, Carsten C., Weryha, Georges, Racz, Karoly, Januszewicz, Andrzej, Walz, Martin K., Gimm, Oliver, Opocher, Giuseppe, Eng, Charis, and Neumann, Hartmut P. H.

Published
2017
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37. Long-Term Quality of Life and Pregnancy Outcomes of Differentiated Thyroid Cancer Survivors Treated by Total Thyroidectomy and I131 during Adolescence and Young Adulthood

Author

Melanie Metallo, Lelia Groza, Laurent Brunaud, Marc Klein, Georges Weryha, and Eva Feigerlova

Subjects
Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Introduction. Differentiated thyroid cancer (DTC) is rare and confers good prognosis. Long-term health related quality of life (HRQoL) and pregnancy outcomes are not well known in subjects treated during adolescence and young adulthood. Methods. Cross-sectional analysis of HRQoL and global self-esteem, using SF-36 and ISP-25 surveys, and of pregnancy outcomes in female survivors of DTC treated by total thyroidectomy and I131 before age of 25 years. Results. Forty-five of 61 patients (74%) responded to the survey. Cumulative I131 activity was ≤3.85 GBq in 18 subjects and >3.85 GBq in 27 subjects. Mean time from diagnosis was 7.6 ± 5.2 years for the group ≤ 3.85 GBq versus 16.9 ± 11.6 years for the group > 3.85 GBq (P 3.85 GBq and 10 in patients from the group ≤ 3.85 GBq. Frequency of miscarriages was of 17% (group > 3.85 GBq) and 10% (group ≤ 3.85 GBq) with 9 and 24 live births, respectively. No congenital malformations or first year mortality was noted. Conclusion. Long-term HRQoL, global self-esteem, and pregnancy outcomes are not affected in young female survivors of DTC.

Published
2016
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38. Decrease in serum testosterone levels after short-term occupational exposure to diisononyl phthalate in male workers

Author

Mathieu Dziurla, Alain Robert, Jean-Bernard Henrotin, Georges Weryha, Manuela Burgart, Fanny Jeandel, Anne-Marie Lambert-Xolin, and Eva Feigerlova

Subjects
Adult, Male, medicine.medical_specialty, Urinary system, Phthalic Acids, 010501 environmental sciences, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, N-terminal telopeptide, Occupational Exposure, Internal medicine, Androgen deficiency, medicine, Humans, Industry, Testosterone, Longitudinal Studies, 030304 developmental biology, 0105 earth and related environmental sciences, 0303 health sciences, Diisononyl phthalate, business.industry, Public Health, Environmental and Occupational Health, Phthalate, Testosterone (patch), Middle Aged, medicine.disease, Endocrinology, Erectile dysfunction, chemistry, Linear Models, France, business, Plastics, Biomarkers, Environmental Monitoring, Hormone
Abstract

ObjectiveThe objective of the study was to examine the effects of occupational exposure to diisononyl phthalate (DINP) on serum testosterone levels in male workers.MethodsFrom 2015 to 2018, 97 male workers were recruited from six French factories in the plastics industry. In a short longitudinal study, changes over 3 days in the level of total or free serum testosterone and DINP exposure were measured. DINP exposure was measured by urinary biomonitoring: mono-4-methyl-7-oxo-octyl phthalate (OXO-MINP), mono-4-methyl-7-hydroxy-octyl phthalate (OH-MINP) and mono-4-methyl-7-carboxyheptylphthalate (CX-MINP). We further analysed changes in follicle-stimulating hormone, luteinising hormone, total testosterone to oestradiol ratio and two bone turnover markers (procollagen-type-I-N propeptide, C terminal cross-linking telopeptide of type I collagen), and erectile dysfunction via standardised questionnaires (International Index of Erectile Function, Androgen Deficiency in Aging Males). Linear mixed models were used with the variables ‘age’ and ‘abdominal diameter’ included as confounder.ResultsIncreased urinary OXO-MINP was associated with a significant decrease in total serum testosterone concentrations, but only for workers who exhibited the smallest variations and lowest exposures (p=0.002). The same pattern was observed for CX-MINP but was not significant; no association with OH-MINP was detectable. More self-reported erectile problems were found in workers exposed directly to DINP at the workstation (p=0.01). No changes were observed for the other biological parameters.ConclusionsShort-term exposure to DINP is associated with a decrease in total serum testosterone levels in male workers. Our results suggest that DINP could present weak antiandrogenic properties in humans, but these need to be confirmed by other studies.

Published
2020
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39. Fracture Risks Related to Parity and Breastfeeding Effect in Post-Menopausal Women Aged Sixty and Over: Results from the 'Quality of Bone in Lorraine' Register

Author

M. Agopiantz, A. Sarr, Michel Assane Ndour, Demba Diedhiou, Georges Weryha, Cédric Baumann, Olivier Morel, and Marc Klein

Subjects
education.field_of_study, medicine.medical_specialty, Pregnancy, Obstetrics, business.industry, Population, Breastfeeding, General Medicine, Bone fracture, medicine.disease, Menopause, medicine, Menarche, Family history, education, business, Parity (mathematics)
Abstract

Introduction: The long term effect of accumulation of genital events as repeated pregnancy and longer breastfeeding in bone heath later in women’s life is still disputed. The objective was to assess the impact of parity and cumulated duration of breastfeeding on fracture risk in post-menopausal women aged sixty an over. Patients and Methods: It was a leading study from the register “Quality of Bone in Lorraine (QBL)” achieved in the department of endocrinology and osteoporotic disease of Nancy (France). This register included all patients sent for an assessment of the bone mass density from January 1, 2006 to December 31, 2014 (9 years). It was about post-menopausal women aged sixty an over suffering or not from osteoporosis fracture or bone fragility just after the age of 45. The genital events of patients to their age (from puberty to menopause) as well as the existence of hormone replacement therapy use, parity, and breastfeeding duration were taken into account. The assessment of bone fracture was clinical, radiological or by using the vertebral fracture assessment method. Results: 861 post-menopausal women were included. In comparison to the control group, the fractured population had a mean age of (74.3 ± 9 vs. 72 ± 8 years), a family history of fracture (32.1% vs. 26%), and an average input of calcium (2.4 ± 1 vs. 2.3 ± 0 portions per day). The age at menarche was of 12.8 ± 1 years in each group, a mean genital activity duration of (36.8 ± 3 vs. 37.2 ± 3 years), a parity of (2.1 ± 1 vs. 1.8 ± 1 children), a cumulated breastfeeding duration (4.2 ± 16 vs. 3.1 ± 5 months) and an age of menopause of (48.6 ± 4 vs. 48.6 ± 4 years) were respectively found in fractured and witness population. Overall, an osteoporotic fracture has been rediscovered in 50.9%. In multivariate analysis, only a cumulative duration of breastfeeding of 6 months and over was associated with a higher fracture risk (OR = 1.5 [1.1 - 2.2]). The impact of parity was not significant (OR = 1.1 [0.7 - 1.8]). Association with obesity was quasi significant (OR = 1.3 [0.9 - 1.9]). There was no correlation between the fracture risk and the genital activity duration (OR = 0.7 [0.5 - 1.0]), hormone replacement therapy use (OR = 1.0 [0.8 - 1.4]), daily calcium input (OR = 0.8 [0.6 - 1.3]), and age of menarche (OR = 1.0 [0.9 - 1.1]). Conclusion: This work confirms a negative impact from 6 months of cumulative breastfeeding. The modest effects observed may be related to the selection of Caucasian patients who live in an economically developed country with a limited number of pregnancies and limited duration of breastfeeding.

Published
2020
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40. Tolérance du Tamoxifène en traitement adjuvant et devenir lointain de 55 femmes non ménopausées suivies à l’Institut de cancérologie de Lorraine, pour un cancer du sein

Author

Julia Salleron, Anne Lesur, Georges Weryha, Sara El Hamdaoui, Marchal Frederic, and Perle Sebaoun

Subjects
Gynecology, Cancer Research, medicine.medical_specialty, Long term follow up, business.industry, Hematology, General Medicine, medicine.disease, Breast cancer, Oncology, Premenopausal breast cancer, medicine, Adjuvant therapy, Radiology, Nuclear Medicine and imaging, business, Tamoxifen, medicine.drug
Abstract

Resume Introduction : Objectifs : Evaluer la tolerance du Tamoxifene (TAM) en termes d’effets secondaires et statut hormonal, la persistance du traitement sur cinq ans et rapporter les donnees du suivi lointain. Methodes : La population etudiee a inclus 55 patientes entre janvier 2001 et novembre 2002 a l’Institut de cancerologie de Lorraine, de 50 ans ou moins, traitees par TAM a la dose quotidienne de 20 mg, pour une duree prevue de 5 ans, en situation adjuvante, pour un cancer du sein, non menopausees au diagnostic. Les donnees du suivi au-dela de 24 mois apres l’introduction du TAM ont ete recueillies retrospectivement entre janvier et mars 2019. Resultats : Les incidences cumulees de l’apparition de kystes ovariens et de bouffees de chaleur a 5 ans etaient respectivement de 68,5 et 77,6 %. Parmi les 33 patientes en amenorrhee chimio-induite, la moitie ont eu une reprise des cycles dans un delai median de 9 mois. Chez les 10 patientes sans amenorrhee chimio-induite, 4 ont eu un arret des cycles. Parmi elles, 3 patientes ont eu une reprise des cycles dans un delai de 1, 4 et 8 mois. Trente-quatre patientes (61,3 %) avaient pris du TAM au moins 5 ans. A 15 ans, les survies globale et sans progression etaient respectivement 90,7 et 67,4 %. Conclusion : L’observation de la tolerance du traitement pendant les 5 ans et au-dela contribue a la qualite des informations delivrees aux futures patientes debutant le traitement, permettant une meilleure comprehension et a terme une meilleure observance.

Published
2019
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41. X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Author

Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre, Centre de Référence des Maladies Endocriniennes Rares de la Croissance [APHP Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Service de pédiatrie générale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - École de sages-femmes Baudelocque (UPD ESF Baudelocque), Université Paris Descartes - Paris 5 (UPD5), Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), French Turner Syndrome Study Group, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service d'Endocrinologie (CHRU - Endocrino), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service d'endocrinologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Unité de nutrition et métabolisme protéique, Institut National de la Recherche Agronomique (INRA), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Service d'Endocrinologie (GRENOBLE - Endocrino), CHU Grenoble, Department of Geology and Applied Geology, University of Mons [Belgium] (UMONS), Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), European Organization for Nuclear Research (CERN), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Différenciation et communication neuronale et neuroendocrine (DC2N), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Rouen University Hospital, Laboratoire d'ingénierie circulation transports (LICIT), Institut National de Recherche sur les Transports et leur Sécurité (INRETS)-École Nationale des Travaux Publics de l'État (ENTPE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Eq 4, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Groupement Hospitalier Lyon-Est (GHE), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL)-Centre de médecine nucléaire, Fédération d'endocrinologie-Groupement hospitalier Lyon-Est-Fédération d'endocrinologie-Groupement hospitalier Lyon-Est, Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université de Paris, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris]-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], École de sages-femmes Baudelocque (ESF Baudelocque), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris, Laboratoire de Physique Corpusculaire - Clermont-Ferrand (LPC), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire d'Amiens (CHU Amiens-Picardie), Hôpital Jean Minjoz, Nutrition et Neurobiologie intégrée (NutriNeur0), Ecole nationale supérieure de chimie, biologie et physique-Institut Polytechnique de Bordeaux-Université Sciences et Technologies - Bordeaux 1-Institut National de la Recherche Agronomique (INRA)-Université Bordeaux Segalen - Bordeaux 2, Université de Brest (UBO), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Grand Accélérateur National d'Ions Lourds (GANIL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)

Subjects
Adult, Heart Defects, Congenital, medicine.medical_specialty, Pediatrics, Adolescent, Endocrinology, Diabetes and Metabolism, Karyotype, Ring chromosome, Gene Dosage, Turner Syndrome, 030209 endocrinology & metabolism, Comorbidity, Type 2 diabetes, Kidney, Y chromosome, Congenital Abnormalities, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Risk Factors, Internal medicine, Turner syndrome, MESH: Chromosome, Human, X/genetics, Congenital Abnormalities/genetics, Kidney Diseases/epidemiology, Turner Syndrome/genetics, medicine, Humans, Cumulative incidence, Child, 030223 otorhinolaryngology, X chromosome, Retrospective Studies, Chromosomes, Human, X, [SDV.GEN]Life Sciences [q-bio]/Genetics, Mosaicism, business.industry, Age Factors, Retrospective cohort study, General Medicine, medicine.disease, 3. Good health, Female, Kidney Diseases, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup.Design and methodsThis national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87).ResultsMedian age was 9.4 (3.7–13.7) years at first evaluation and 16.8 (11.2–21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P ConclusionThese data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.

Published
2019
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49. Mutations in NR5A1 associated with ovarian insufficiency

Author

Lourenco, Diana, Brauner, Raja, Lin Lin, De Perdigo, Arantzazu, Weryha, Georges, Muresan, Mihaela, Boudjenah, Radia, Guerra-Junioor, Gil, Maciel-Guerra, Andrea T., Achermann, John C., McElreavey, Ken, and Bashamboo, Anu

Subjects
Ovarian diseases -- Genetic aspects, Sexual disorders -- Genetic aspects, Gene mutations -- Research
Abstract

The study determines if mutations in the nuclear receptor 'NR5A1', also known as steroidogenic factor 1, cause impairment of ovarian development and function. Findings indicate 'NR5A1' mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.

Published
2009

50. 8th Santorini Conference: Systems medicine and personalized health and therapy, Santorini, Greece, 3-5 October 2016

Author

Visvikis-Siest, Sophie, Aldasoro Arguinano, Alex-Ander, Stathopoulou, Maria, Xie, Ting, Petrelis, Alexandros, Weryha, Georges, Froguel, Philippe, Meier-Abt, Peter, Meyer, Urs A., Mlakar, Vid, Ansari, Marc, Papassotiropoulos, Andreas, Dedoussis, Georges, Pan, Baishen, Bühlmann, Roland P., Noyer-Weidner, Mario, Dietrich, Pierre-Yves, Van Schaik, Ron, Innocenti, Federico, März, Winfried, Bekris, Lynn M., Deloukas, Panos, Visvikis-Siest, Sophie, Aldasoro Arguinano, Alex-Ander, Stathopoulou, Maria, Xie, Ting, Petrelis, Alexandros, Weryha, Georges, Froguel, Philippe, Meier-Abt, Peter, Meyer, Urs A., Mlakar, Vid, Ansari, Marc, Papassotiropoulos, Andreas, Dedoussis, Georges, Pan, Baishen, Bühlmann, Roland P., Noyer-Weidner, Mario, Dietrich, Pierre-Yves, Van Schaik, Ron, Innocenti, Federico, März, Winfried, Bekris, Lynn M., and Deloukas, Panos

Published
2021

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