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1. Combination of Waist Circumference and Circulating Levels of IGFBP-2 as a Simple Screening Tool for Early Detection of Metabolic Dysfunction-Associated Steatotic Liver Disease

Author

Rauzier C, Chartrand DJ, Alméras N, Lemieux I, Larose E, Mathieu P, Pibarot P, Lamarche B, Rhéaume C, Poirier P, Després JP, and Picard F

Subjects
humans, insulin-like growth factor binding protein-2, waist circumference, hepatic fat, metabolic dysfunction–associated steatotic liver disease, biomarker, plasma, non-invasive, Specialties of internal medicine, RC581-951
Abstract

Chloé Rauzier,1,2 Dominic J Chartrand,1,3 Natalie Alméras,1,3 Isabelle Lemieux,1 Eric Larose,1,4 Patrick Mathieu,1,5 Philippe Pibarot,1,4 Benoît Lamarche,6,7 Caroline Rhéaume,1,8,9 Paul Poirier,1,2 Jean-Pierre Després,1,3,9 Frédéric Picard1,2 1Centre de recherche de l’Institut universitaire de cardiologie et de pneumologie de Québec (IUCPQ) – Université Laval, Québec, QC, Canada; 2Faculté de pharmacie, Université Laval, Québec, QC, Canada; 3Département de kinésiologie, Faculté de médecine, Université Laval, Québec, QC, Canada; 4Département de médecine, Faculté de médecine, Université Laval, Québec, QC, Canada; 5Département de chirurgie, Faculté de médecine, Université Laval, Québec, QC, Canada; 6Centre Nutrition, santé et société (NUTRISS), Institut sur la nutrition et les aliments fonctionnels (INAF), Université Laval, Québec, QC, Canada; 7École de nutrition, Faculté des sciences de l’agriculture et de l’alimentation, Université Laval, Québec, QC, Canada; 8Département de médecine familiale et de médecine d’urgence, Faculté de médecine, Université Laval, Québec, QC, Canada; 9VITAM – Centre de recherche en santé durable, Québec, QC, CanadaCorrespondence: Frédéric Picard; Jean-Pierre Després, Email Frederic.Picard@criucpq.ulaval.ca; jean-pierre.despres.ciussscn@ssss.gouv.qc.caAbstract: Optimal non-invasive biomarkers for metabolic dysfunction-associated steatotic liver disease (MASLD) remain elusive, especially in the detection of early stages. This study tested in an asymptomatic cohort of 171 men (49.2 ± 8.6 years) and 131 women (51.8 ± 8.5 years) whether waist circumference (WC) and circulating levels of insulin-like growth factor-binding protein 2 (IGFBP-2) could identify individuals with liver fat > 5% as assessed by magnetic resonance spectroscopy. Participants with high WC (> 85 or 90 cm for women and men, respectively) and low IGFBP-2 (< 260 or 230 ng/mL for women and men, respectively) were characterized by a higher risk of having MASLD (46.3%, p < 0.0001). Among the 68 individuals with MASLD, 73.5% fell into the subgroup with high WC and low IGFBP-2 concentrations (p < 0.0001). When combined, these markers reached a sensitivity of 73.5% and specificity of 75.2% for MASLD. Thus, WC and plasma IGFBP-2 levels might be useful as a novel, simple, and non-invasive index to support existing tools in the identification of individuals at risk of early-stage MASLD.Keywords: humans, insulin-like growth factor-binding protein 2, waist circumference, hepatic fat, metabolic dysfunction-associated steatotic liver disease, biomarker, plasma, non-invasive

Published
2024

2. Quantitative CT assessment of bronchial and vascular alterations in severe precapillary pulmonary hypertension

Author

Coste F, Benlala I, Dournes G, Dromer C, Blanchard E, Girodet PO, Montaudon M, Baldacci F, Picard F, Marthan R, Laurent F, and Berger P

Subjects
computed tomography, pulmonary hypertension, COPD, prediction, Diseases of the respiratory system, RC705-779
Abstract

Florence Coste,1,2,* Ilyes Benlala,1,2,* Gaël Dournes,1–3 Claire Dromer,3 Elodie Blanchard,3 Pierre-Olivier Girodet,1–3 Michel Montaudon,1–3 Fabien Baldacci,4 François Picard,3 Roger Marthan,1–3 François Laurent,1–3,* Patrick Berger1–3,* 1Université de Bordeaux, Centre de Recherche Cardio-Thoracique de Bordeaux, U1045, F-33000 Bordeaux, France; 2Centre de Recherche Cardio-Thoracique de Bordeaux, INSERM, U1045, Université de Bordeaux, CIC1401, F-33000 Bordeaux, France; 3CHU de Bordeaux, Service d’Imagerie Thoracique et Cardiovasculaire, Service des Maladies Respiratoires, Service de Cardiologie, CIC1401, Service d’Explorations Fonctionnelles Respiratoires, F-33600 Pessac, France; 4Université de Bordeaux, LaBRI, F-33405 Talence Cedex, France *These authors contributed equally to this work Background: Little is known about in vivo alterations at bronchial and vascular levels in severe pulmonary hypertension (PH) of different etiologies. We aimed to compare quantitative computed tomography (CT) data from the following three groups of severe precapillary PH patients: COPD, idiopathic pulmonary arterial hypertension (iPAH), and chronic thromboembolic PH (CTEPH). Patients and methods: This study was approved by the institutional review board. Severe PH patients (mean pulmonary arterial pressure [mPAP] ≥35 mmHg) with COPD, iPAH, or CTEPH (n=24, 16, or 16, respectively) were included retrospectively between January 2008 and January 2017. Univariate analysis of mPAP was performed in each severe PH group. Bronchial wall thickness (WT) and percentage of cross sectional area of pulmonary vessels less than 5 mm2 normalized by lung area (%CSA

Published
2019

4. Role of leptin resistance in the development of obesity in older patients

Author

Carter S, Caron A, Richard D, and Picard F

Subjects
Leptin, obesity, aging, insulin sensitivity, brown adipose tissue, Geriatrics, RC952-954.6
Abstract

Sophie Carter,1,* Alexandre Caron,2,* Denis Richard,2 Frédéric Picard1 1Faculty of Pharmacy, 2Faculty of Medicine, Dept Anatomy and Physiology, Université Laval, Québec, QC, Canada *These authors contributed equally to the work Abstract: Obesity is a global epidemic associated with aging-like cellular processes; in both aging and obesity, resistance to hormones such as insulin and leptin can be observed. Leptin is a circulating hormone/cytokine with central and peripheral effects that is released mainly by subcutaneous white adipose tissue. Centrally, leptin controls food intake, energy expenditure, and fat distribution, whereas it controls (among several others) insulin sensitivity, free fatty acids (FFAs) oxidation, and lipolysis in the periphery. Aging is associated with important changes in both the distribution and the composition of adipose tissue. Fat is redistributed from the subcutaneous to the visceral depot and increased inflammation participates in adipocyte dysfunction. This redistribution of adipose tissue in favor of visceral fat influences negatively both longevity and healthy aging as shown in numerous animal models. These modifications observed during aging are also associated with leptin resistance. This resistance blunts normal central and peripheral functions of leptin, which leads to a decrease in neuroendocrine function and insulin sensitivity, an imbalance in energy regulation, and disturbances in lipid metabolism. Here, we review how age-related leptin resistance triggers metabolic disturbances and affects the longevity of obese patients. Furthermore, we discuss the potential impacts of leptin resistance on the decline of brown adipose tissue thermogenesis observed in elderly individuals. Keywords: leptin, obesity, aging, insulin sensitivity, brown adipose tissue

Published
2013

5. Toward a Competitive Process Intensification: A New Generation of Heat Exchanger-Reactors Vers une intensification des procédés économiquement viable : une nouvelle génération de réacteur-échangeur de chaleur

Author

Tochon P., Couturier R., Anxionnaz Z., Lomel S., Runser H., Picard F., Colin A., Gourdon C., Cabassud M., Peerhossaini H., Della Valle D., and Lemenand T.

Subjects
Chemical technology, TP1-1185, Energy industries. Energy policy. Fuel trade, HD9502-9502.5
Abstract

Process Intensification (PI) in chemical production is a major concern of chemical manufacturers. Among the numerous options to intensify a process, the transposition from a batch reactor to a continuous plug flow reactor is a good alternative when the selectivity and the thermal exchange are an issue. In this context, the RAPIC R&D project aims to develop an innovative low-cost component (in the 10 kg/h range). This project deals with the design from the local to the global scale and with testing, from elementary mock-ups to pilot scale. The present paper gives a detailed description of this research project and presents the main results on specification and definition of the reaction channel and the first simple mock-ups. L’intensification des procédés (IP) constitue une des préoccupations majeures de l’industrie chimique. Parmi les nombreuses options possibles pour intensifier un procédé, lorsque le sujet concerne la sélectivité et l’échange thermique, la transposition d’un réacteur discontinu à un réacteur tubulaire continu paraît une bonne alternative. Dans ce contexte, le projet de R&D RAPIC consiste à développer un composant innovant à bas coût (environ 10 kg/heure). Ce projet porte sur la phase de conception, du niveau local au niveau global, et sur la phase de tests, depuis les maquettes élémentaires jusqu’aux essais pilote. Cet article propose une description détaillée de ce projet de recherche et présente les principaux résultats obtenus sur la définition et la spécification du canal de réaction, ainsi que les premières maquettes simples.

Published
2010
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7. Effects of exercise training on mobilization and functional activity of blood-derived progenitor cells in patients with acute myocardial infarction

Author

Brehm M, Picard F, Ebner P, Turan G, Bölke E, Köstering M, Schüller P, Fleissner T, Ilousis D, Augusta K, Peiper M, Schannwell Ch, and Strauer BE

Subjects
Exercise training, Cytokines, Progenitor Cells, Myocardial Infarction, Rehabilitation, Medicine
Abstract

Abstract Background The aim of the present study was to determine whether regular exercise training (ET) is effective at promoting the mobilization of CPCs and improving their functional activity in patients with recently acquired myocardial infarction(STEMI). Regular physical training has been shown to improve myocardial perfusion and cardiovascular function. This mayberelatedin part to a mobilization of bonemarrow-derived circulating progenitor cells (CPCs) as well as an enhanced vascularisation. Methods 37 patients with STEMI were randomly assigned to an ET group or a non-ET group(controls). Two weeks after STEMI, three weeks after regular ET and three months after ET, BNP levels, exercise echocardiography and exercise spiroergometry were evaluated. The number of CD34+/CD45+ and CD133+/CD45+CPCs was measured by flow cytometry analysis. The migration capacity of the CPCs was determined with a boyden chamber and the clonogenic capacity by CFU-assay. Results In the ET-group the number and migration capacity of CPCs increased significantly after regular exercise training. The BNP level decreased significantly from 121 ± 94 to 75 ± 47 pg/ml (p < 0.001) after the ET period, the left ventricular rejection fraction raised in parallel at peak exercise, and the cardiorespiratory condition improved as demonstrated by an increase of VO2max (from 1641 ± 522 to 1842 ± 724 ml/min, p < 0.02). These three effects persist till three months after the ET period. Conclusions Regular physical activity appears to predispose the mobilization and enhanced functional activity of CPCs, a phenomenon which might lead to an improved cardiac function in patients with recently acquired acute myocardial infarction.

Published
2009
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13. Empagliflozin in the treatment of heart failure with reduced ejection fraction in addition to background therapies and therapeutic combinations (EMPEROR-Reduced): a post-hoc analysis of a randomised, double-blind trial

Author

Packer, M, Anker, S, Butler, J, Filippatos, G, Pocock, S, Zannad, F, Ferreira, JP, Brueckmann, M, George, J, Jamal, W, Welty, FK, Palmer, M, Clayton, T, Parhofer, KG, Pedersen, TR, Greenberg, B, Konstam, MA, Lees, KR, Carson, P, Doehner, W, Miller, A, Haas, M, Pehrson, S, Komajda, M, Anand, I, Teerlink, J, Rabinstein, A, Steiner, T, Kamel, H, Tsivgoulis, G, Lewis, J, Freston, J, Kaplowitz, N, Mann, J, Petrie, J, Perrone, S, Nicholls, S, Janssens, S, Bocchi, E, Giannetti, N, Verma, S, Zhang, J, Spinar, J, Seronde, M-F, Boehm, M, Merkely, B, Chopra, V, Senni, M, Taddi, S, Tsutsui, H, Choi, D-J, Chuquiure, E, La Rocca, HPB, Ponikowski, P, Juanatey, JRG, Squire, I, Januzzi, J, Pina, I, Bernstein, R, Cheung, A, Green, J, Kaul, S, Lam, C, Lip, G, Marx, N, McCullough, P, Mehta, C, Rosenstock, J, Sattar, N, Scirica, B, Shah, S, Wanner, C, Aizenberg, D, Cartasegna, L, Colombo Berra, F, Colombo, H, Fernandez Moutin, M, Glenny, J, Alvarez Lorio, C, Anauch, D, Campos, R, Facta, A, Fernandez, A, Ahuad Guerrero, R, Lobo Márquez, L, Leon de la Fuente, RA, Mansilla, M, Hominal, M, Hasbani, E, Najenson, M, Moises Azize, G, Luquez, H, Guzman, L, Sessa, H, Amuchástegui, M, Salomone, O, Perna, E, Piskorz, D, Sicer, M, Perez de Arenaza, D, Zaidman, C, Nani, S, Poy, C, Resk, J, Villarreal, R, Majul, C, Smith Casabella, T, Sassone, S, Liberman, A, Carnero, G, Caccavo, A, Berli, M, Budassi, N, Bono, J, Alvarisqueta, A, Amerena, J, Kostner, K, Hamilton, A, Begg, A, Beltrame, J, Colquhoun, D, Gordon, G, Sverdlov, A, Vaddadi, G, Wong, J, Coller, J, Prior, D, Friart, A, Leone, A, Vervoort, G, Timmermans, P, Troisfontaines, P, Franssen, C, Sarens, T, Vandekerckhove, H, Van De Borne, P, Chenot, F, De Sutter, J, De Vuyst, E, Debonnaire, P, Dupont, M, Pereira Dutra, O, Canani, LH, Vieira Moreira, MdC, de Souza, W, Backes, LM, Maia, L, De Souza Paolino, B, Manenti, ER, Saporito, W, Villaça Guimarães Filho, F, Franco Hirakawa, T, Saliba, LA, Neuenschwander, FC, de Freitas Zerbini, CA, Gonçalves, G, Gonçalves Mello, Y, Ascenção de Souza, J, Beck da Silva Neto, L, Bocchi, EA, Da Silveira, J, de Moura Xavier Moraes Junior, JB, de Souza Neto, JD, Hernandes, M, Finimundi, HC, Sampaio, CR, Vasconcellos, E, Neves Mancuso, FJ, Noya Rabelo, MM, Rodrigues Bacci, M, Santos, F, Vidotti, M, Simões, MV, Gomes, FL, Vieira Nascimento, C, Precoma, D, Helfenstein Fonseca, FA, Ribas Fortes, JA, Leães, PE, Campos de Albuquerque, D, Kerr Saraiva, JF, Rassi, S, Alves da Costa, FA, Reis, G, Zieroth, S, Dion, D, Savard, D, Bourgeois, R, Constance, C, Anderson, K, Leblanc, M-H, Yung, D, Swiggum, E, Pliamm, L, Pesant, Y, Tyrrell, B, Huynh, T, Spiegelman, J, Lavoie, J-P, Hartleib, M, Bhargava, R, Straatman, L, Virani, S, Costa-Vitali, A, Hill, L, Heffernan, M, Khaykin, Y, Ricci, J, Senaratne, M, Zhai, A, Lubelsky, B, Toma, M, Yao, L, McKelvie, R, Noronha, L, Babapulle, M, Pandey, A, Curnew, G, Lavoie, A, Berlingieri, J, Kouz, S, Lonn, E, Chehayeb, R, Zheng, Y, Sun, Y, Cui, H, Fan, Z, Han, X, Jiang, X, Tang, Q, Zhou, J, Zheng, Z, Zhang, X, Zhang, N, Zhang, Y, Shen, A, Yu, J, Ye, J, Yao, Y, Yan, J, Xu, X, Wang, Z, Ma, J, Li, Y, Li, S, Lu, S, Kong, X, Song, Y, Yang, G, Yao, Z, Pan, Y, Guo, X, Sun, Z, Dong, Y, Zhu, J, Peng, D, Yuan, Z, Lin, J, Yin, Y, Jerabek, O, Burianova, H, Fiala, T, Hubac, J, Ludka, O, Monhart, Z, Vodnansky, P, Zeman, K, Foldyna, D, Krupicka, J, Podpera, I, Busak, L, Radvan, M, Vomacka, Z, Prosecky, R, Cifkova, R, Durdil, V, Vesely, J, Vaclavik, J, Cervinka, P, Linhart, A, Brabec, T, Miklik, R, Bourhaial, H, Olbrich, H-G, Genth-Zotz, S, Kemala, E, Lemke, B, Böhm, M, Schellong, S, Rieker, W, Heitzer, T, Ince, H, Faghih, M, Birkenfeld, A, Begemann, A, Ghanem, A, Ujeyl, A, von Haehling, S, Dorsel, T, Bauersachs, J, Prull, M, Weidemann, F, Darius, H, Nickenig, G, Wilke, A, Sauter, J, Rauch-Kroehnert, U, Frey, N, Schulze, CP, König, W, Maier, L, Menzel, F, Proskynitopoulos, N, Ebert, H-H, Sarnighausen, H-E, Düngen, H-D, Licka, M, Stellbrink, C, Winkelmann, B, Menck, N, López-Sendón, JL, de la Fuente Galán, L, Delgado Jiménez, JF, Manito Lorite, N, Pérez de Juan Romero, M, Galve Basilio, E, Cereto Castro, F, González Juanatey, JR, Gómez, JJ, Sanmartín Fernández, M, Garcia-Moll Marimon, X, Pascual Figal, D, Bover Freire, R, Bonnefoy Cudraz, E, Jobbe Duval, A, Tomasevic, D, Habib, G, Isnard, R, Picard, F, Khanoyan, P, Dubois-Rande, J-L, Galinier, M, Roubille, F, Alexandre, J, Babuty, D, Delarche, N, Berneau, J-B, Girerd, N, Saxena, M, Rosano, G, Yousef, Z, Clifford, C, Arden, C, Bakhai, A, Boos, C, Jenkins, G, Travill, C, Price, D, Koenyves, L, Lakatos, F, Matoltsy, A, Noori, E, Zilahi, Z, Andrassy, P, Kancz, S, Simon, G, Sydo, T, Vorobcsuk, A, Kiss, RG, Toth, K, Szakal, I, Nagy, L, Barany, T, Nagy, A, Szolnoki, E, Chopra, VK, Mandal, S, Rastogi, V, Shah, B, Mullasari, A, Shankar, J, Mehta, V, Oomman, A, Kaul, U, Komarlu, S, Kahali, D, Bhagwat, A, Vijan, V, Ghaisas, NK, Mehta, A, Kashyap, J, Kothari, Y, TaddeI, S, Scherillo, M, Zacà, V, Genovese, S, Salvioni, A, Fucili, A, Fedele, F, Cosmi, F, Volpe, M, Mazzone, C, Esposito, G, Doi, M, Yamamoto, H, Sakagami, S, Oishi, S, Yasaka, Y, Tsuboi, H, Fujino, Y, Matsuoka, S, Watanabe, Y, Himi, T, Ide, T, Ichikawa, M, Kijima, Y, Koga, T, Yuda, S, Fukui, K, Kubota, T, Manita, M, Fujinaga, H, Matsumura, T, Fukumoto, Y, Kato, R, Kawai, Y, Hiasa, G, Kazatani, Y, Mori, M, Ogimoto, A, Inoko, M, Oguri, M, Kinoshita, M, Okuhara, K, Watanabe, N, Ono, Y, Otomo, K, Sato, Y, Matsunaga, T, Takaishi, A, Miyagi, N, Uehara, H, Takaishi, H, Urata, H, Kataoka, T, Matsubara, H, Matsumoto, T, Suzuki, T, Takahashi, N, Imamaki, M, Yoshitama, T, Saito, T, Sekino, H, Furutani, Y, Koda, M, Shinozaki, T, Hirabayashi, K, Tsunoda, R, Yonezawa, K, Hori, H, Yagi, M, Arikawa, M, Hashizume, T, Ishiki, R, Koizumi, T, Nakayama, K, Taguchi, S, Nanasato, M, Yoshida, Y, Tsujiyama, S, Nakamura, T, Oku, K, Shimizu, M, Suwa, M, Momiyama, Y, Sugiyama, H, Kobayashi, K, Inoue, S, Kadokami, T, Maeno, K, Kawamitsu, K, Maruyama, Y, Nakata, A, Shibata, T, Wada, A, Cho, H-J, Na, JO, Yoo, B-S, Choi, J-O, Hong, SK, Shin, J-H, Cho, M-C, Han, SH, Jeong, J-O, Kim, J-J, Kang, SM, Kim, D-S, Kim, MH, Llamas Esperon, G, Illescas Díaz, J, Fajardo Campos, P, Almeida Alvarado, J, Bazzoni Ruiz, A, Echeverri Rico, J, Lopez Alcocer, I, Valle Molina, L, Hernandez Herrera, C, Calvo Vargas, C, Padilla Padilla, FG, Rodriguez Briones, I, Chuquiure Valenzuela, EJJR, Aguilera Real, ME, Carrillo Calvillo, J, Alpizar Salazar, M, Cervantes Escárcega, JL, Velasco Sanchez, R, Al - Windy, N, van Heerebeek, L, Bellersen, L, Brunner-La Rocca, H-P, Post, J, Linssen, GCM, van de Wetering, M, Peters, R, van Stralen, R, Groutars, R, Smits, P, Yilmaz, A, Kok, WEM, Van der Meer, P, Dijkmans, P, Troquay, R, van Alem, AP, Van de Wal, R, Handoko, L, Westendorp, ICD, van Bergen, PFMM, Rensing, BJWM, Hoogslag, P, Kietselaer, B, Kragten, JA, den Hartog, FR, Alings, A, Danilowicz-Szymanowicz, L, Raczak, G, Piesiewicz, W, Zmuda, W, Kus, W, Podolec, P, Musial, W, Drelich, G, Kania, G, Miekus, P, Mazur, S, Janik, A, Spyra, J, Peruga, J, Balsam, P, Krakowiak, B, Szachniewicz, J, Ginel, M, Grzybowski, J, Chrustowski, W, Wojewoda, P, Kalinka, A, Zurakowski, A, Koc, R, Debinski, M, Fil, W, Kujawiak, M, Forys, J, Kasprzak, M, Krol, M, Michalski, P, Mirek-Bryniarska, E, Radwan, K, Skonieczny, G, Stania, K, Skoczylas, G, Madej, A, Jurowiecki, J, Firek, B, Wozakowska-Kaplon, B, Cymerman, K, Neutel, J, Adams, K, Balfour, P, Deswal, A, Djamson, A, Duncan, P, Hong, M, Murray, C, Rinde-Hoffman, D, Woodhouse, S, MacNevin, R, Rama, B, Broome-Webster, C, Kindsvater, S, Abramov, D, Barettella, M, Pinney, S, Herre, J, Cohen, A, Vora, K, Challappa, K, West, S, Baum, S, Cox, J, Jani, S, Karim, A, Akhtar, A, Quintana, O, Paukman, L, Goldberg, R, Bhatti, Z, Budoff, M, Bush, E, Potler, A, Delgado, R, Ellis, B, Dy, J, Fialkow, J, Sangrigoli, R, Ferdinand, K, East, C, Falkowski, S, Donahoe, S, Ebrahimi, R, Kline, G, Harris, B, Khouzam, R, Jaffrani, N, Jarmukli, N, Kazemi, N, Koren, M, Friedman, K, Herzog, W, Silva Enciso, J, Cheung, D, Grover-McKay, M, Hauptman, P, Mikhalkova, D, Hegde, V, Hodsden, J, Khouri, S, McGrew, F, Littlefield, R, Bradley, P, McLaurin, B, Lupovitch, S, Labin, I, Rao, V, Leithe, M, Lesko, M, Lewis, N, Lombardo, D, Mahal, S, Malhotra, V, Dauber, I, Banerjee, A, Needell, J, Miller, G, Paladino, L, Munuswamy, K, Nanna, M, McMillan, E, Mumma, M, Napoli, M, Nelson, W, O'Brien, T, Adlakha, A, Onwuanyi, A, Serota, H, Schmedtje, J, Paraschos, A, Potu, R, Sai-Sudhakar, C, Saltzberg, M, Sauer, A, Shah, P, Skopicki, H, Bui, H, Carr, K, Stevens, G, Tahirkheli, N, Tallaj, J, Yousuf, K, Trichon, B, Welker, J, Tolerico, P, Vest, A, Vivo, R, Wang, X, Abadier, R, Dunlap, S, Weintraub, N, Malik, A, Kotha, P, Zaha, V, Kim, G, Uriel, N, Greene, T, Salacata, A, Arora, R, Gazmuri, R, Kobayashi, J, Iteld, B, Vijayakrishnan, R, Dab, R, Mirza, Z, Marques, V, Nallasivan, M, Bensimhon, D, Peart, B, Saint-Jacques, H, Barringhaus, K, Contreras, J, Gupta, A, Koneru, S, Nguyen, V, Verma, Subodh, Dhingra, Nitish K, Butler, Javed, Anker, Stefan D, Ferreira, Joao Pedro, Filippatos, Gerasimos, Januzzi, James L, Lam, Carolyn S P, Sattar, Naveed, Peil, Barbara, Nordaby, Matias, Brueckmann, Martina, Pocock, Stuart J, Zannad, Faiez, and Packer, Milton

Published
2022
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14. Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Author

Luu, M., Vabres, P., Devilliers, H., Loffroy, R., Phan, A., Martin, L., Morice-Picard, F., Petit, F., Willems, M., Bessis, D., Jacquemont, M. L., Maruani, A., Chiaverini, C., Mirault, T., Clayton-Smith, J., Carpentier, M., Fleck, C., Maurer, A., Yousfi, M., Parker, V. E. R., Semple, R. K., Bardou, M., and Faivre, L.

Published
2021
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17. High Dimensional Classification with combined Adaptive Sparse PLS and Logistic Regression

Author

Durif, G., Modolo, L., Michaelsson, J., Mold, J. E., Lambert-Lacroix, S., and Picard, F.

Subjects
Statistics - Methodology, Statistics - Computation
Abstract

Motivation: The high dimensionality of genomic data calls for the development of specific classification methodologies, especially to prevent over-optimistic predictions. This challenge can be tackled by compression and variable selection, which combined constitute a powerful framework for classification, as well as data visualization and interpretation. However, current proposed combinations lead to instable and non convergent methods due to inappropriate computational frameworks. We hereby propose a stable and convergent approach for classification in high dimensional based on sparse Partial Least Squares (sparse PLS). Results: We start by proposing a new solution for the sparse PLS problem that is based on proximal operators for the case of univariate responses. Then we develop an adaptive version of the sparse PLS for classification, which combines iterative optimization of logistic regression and sparse PLS to ensure convergence and stability. Our results are confirmed on synthetic and experimental data. In particular we show how crucial convergence and stability can be when cross-validation is involved for calibration purposes. Using gene expression data we explore the prediction of breast cancer relapse. We also propose a multicategorial version of our method on the prediction of cell-types based on single-cell expression data. Availability: Our approach is implemented in the plsgenomics R-package., Comment: 9 pages, 3 figures, 4 tables + Supplementary Materials 8 pages, 3 figures, 10 tables

Published
2015
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18. Adaptive Lasso and group-Lasso for functional Poisson regression

Author

Ivanoff, S., Picard, F., and Rivoirard, V.

Subjects
Statistics - Methodology, Mathematics - Statistics Theory
Abstract

High dimensional Poisson regression has become a standard framework for the analysis of massive counts datasets. In this work we estimate the intensity function of the Poisson regression model by using a dictionary approach, which generalizes the classical basis approach, combined with a Lasso or a group-Lasso procedure. Selection depends on penalty weights that need to be calibrated. Standard methodologies developed in the Gaussian framework can not be directly applied to Poisson models due to heteroscedasticity. Here we provide data-driven weights for the Lasso and the group-Lasso derived from concentration inequalities adapted to the Poisson case. We show that the associated Lasso and group-Lasso procedures are theoretically optimal in the oracle approach. Simulations are used to assess the empirical performance of our procedure, and an original application to the analysis of Next Generation Sequencing data is provided.

Published
2014

19. Impacts of illicit drug use on coronary angiographic findings in a multicenter registry of patients with acute coronary syndrome

Author

Léquipar, A., primary, Pezel, T., additional, Delmas, C., additional, Trimaille, A., additional, Boccara, F., additional, Roubille, F., additional, Lafont, A., additional, Gall, E., additional, El Beze, N., additional, Guiraud-Chaumeil, P., additional, Singh, M., additional, Gerbaud, E., additional, Picard, F., additional, Henry, P., additional, and Dillinger, J.-G., additional

Published
2024
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20. Machine learning for major adverse cardiac events prediction in patients with acute coronary syndrome: Results from ADDICT-ICCU study

Author

Gall, E., primary, Dillinger, J.-G., additional, Hamzi, K., additional, Meyer, E., additional, Gerbaud, E., additional, El Beze, N., additional, Léquipar, A., additional, Toupin, S., additional, Picard, F., additional, Trimaille, A., additional, Goralski, M., additional, Bedossa, M., additional, Boccara, A., additional, Pezel, T., additional, and Henry, P., additional

Published
2024
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21. Invasive coronary angiography features associated with high exhaled carbon monoxide in acute coronary syndromes from a prospective multicentric registry

Author

Singh, M., primary, Pezel, T., additional, Léquipar, A., additional, Delmas, C., additional, Trimaille, A., additional, Boccara, F., additional, Roubille, F., additional, Gall, E., additional, El Bèze, N., additional, Guiraud-Chaumeil, P., additional, Gerbaud, E., additional, Picard, F., additional, Lafont, A., additional, Henry, P., additional, and Dillinger, J.-G., additional

Published
2024
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22. Machine learning to predict in-hospital outcomes in patients with acute heart failure

Author

Sibilia, B., primary, Dillinger, J.-G., additional, Toupin, S., additional, Brette, J.B., additional, Ramonatxo, A., additional, Schurtz, G., additional, Hamzi, K., additional, Trimaille, A., additional, Bouali, N., additional, Pilliero, N., additional, Logeart, D., additional, Andrieu, S., additional, Picard, F., additional, Henry, P., additional, and Pezel, T., additional

Published
2024
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24. National-scale description of chronic heart failure patients included in remote patient monitoring system with a web application in France

Author

Girerd, N., primary, Jourdain, P., additional, Jagu, A., additional, Lafitte, S., additional, Amara, W., additional, Barritault, F., additional, Benchimol, H., additional, Labarre, J.-P., additional, Maribas, P., additional, Chaouky, H., additional, Nisse-Durgeat, S., additional, Pages, N., additional, and Picard, F., additional

Published
2024
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29. Machine learning to predict in-hospital outcomes in patients with acute heart failure

Author

Sibilia, B, primary, Toupin, S, additional, Dillinger, J G, additional, Brette, J B, additional, Ramonatxo, A, additional, Schurtz, G, additional, Hamzi, K, additional, Trimaille, A, additional, Bouali, N, additional, Piliero, N, additional, Logeart, D, additional, Andrieu, S, additional, Picard, F, additional, Henry, P, additional, and Pezel, T, additional

Published
2023
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30. Machine learning for in-hospital cardiac events prediction in patients with acute coronary syndrome: results from ADDICT-ICCU study

Author

Gall, E, primary, Dillinger, J G, additional, Hamzi, K, additional, Elbaz, M, additional, Gerbaud, E, additional, El Beze, N, additional, Lequipar, A, additional, Toupin, S, additional, Picard, F, additional, Trimaille, A, additional, Goralski, M, additional, Bedossa, M, additional, Boccara, A, additional, Pezel, T, additional, and Henry, P, additional

Published
2023
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32. In-hospital prognosis of recreational drug use in patients with acute ST-elevation myocardial infarction: insights from the ADDICT-ICCU study

Author

Clement, A, primary, Pezel, T, additional, Ramonatxo, A, additional, Roule, V, additional, Picard, F, additional, Swedsky, F, additional, Amri, N, additional, Maitre-Ballesteros, L, additional, Coppens, A, additional, Bouali, N, additional, Guiraud-Chaumeil, P, additional, Gall, E, additional, Lequipar, A, additional, Henry, P, additional, and Dillinger, J G, additional

Published
2023
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33. Impacts of illicit drug use on coronary angiographic findings in a multicenter registry of patients with acute coronary syndrome

Author

Lequipar, A, primary, Pezel, T, additional, Delmas, C, additional, Trimaille, A, additional, Boccara, F, additional, Roubille, F, additional, Lafont, A, additional, Gall, E, additional, El Beze, N, additional, Guiraud-Chaumeil, P, additional, Singh, M, additional, Gerbaud, E, additional, Picard, F, additional, Henry, P, additional, and Dillinger, J G, additional

Published
2023
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34. Olfactory receptor 2 signaling drives experimental abdominal aortic aneurysm formation

Author

Schelemei, P, primary, Picard, F, additional, Nemade, H, additional, Mehrkens, D, additional, Grimm, S, additional, Tinaz, K, additional, Wagner, E, additional, Orrechioni, M, additional, Wagenhaeuser, M, additional, Schelzig, H, additional, Roy, J, additional, Liljeqvist, M, additional, Mollenhauer, M, additional, Baldus, S, additional, and Winkels, H, additional

Published
2023
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36. Security and performance of remote patient monitoring for chronic heart failure with Satelia® Cardio: First results from real-world use

Author

Jourdain Patrick, Picard F, Girerd N, Lemieux H, Barritault F, Seronde MF, Labarre JP, Pages N, Bedel C, Betito L, Nisse-Durgeat S, and Diebold B

Subjects
Pharmaceutical Science
Abstract

Background: Since 2019, remote patient monitoring (RPM) for patients with chronic heart failure (CHF) has been supported by the European Society of Cardiology. However, real-world data on the use of such solutions has been limited and not primarily based on patient-reported outcomes. The aim of this study was to describe the Satelia® Cardio solution in France within the French ETAPES funding program and assess the security and performance of its clinical algorithm. Methods: A retrospective observational study was conducted on CHF patients monitored by RPM through Satelia® Cardio. From September 1, 2018, to June 30, 2020, patients were included if they had completed over six months of follow-up. The risk of a possible CHF decompensation was categorized by the system in three levels: green, orange and red. The algorithm security and performance were assessed through the negative predictive value (NPV) of the prediction of hospitalization of a patient within seven days. Results: In total, 331 patients were included in this study with 36,682 patient self-administered questionnaires answered. Patients were mostly males (70.4%) and had a mean age of 68.1 years. The mean left ventricular ejection fraction (LVEF) was 35.4% (± 12.3) and 73.3% of patients had a LVEF ≤ 40%. The questionnaire response rate was 90.9%. A green status was generated for 95.3% of answers. There were 4.5% (n = 1,499) orange alerts and 0.2% (n = 74) red alerts. Overall, 92.1% of patients had at least one CHF related hospitalization and 31.7% (n = 105) of these cases were non-scheduled. The NPV at seven days was 99.43%. Conclusion: Satelia® Cardio is a feasible, relevant and reliable solution to safely monitor the cohorts of patients with CHF, reassuring cardiologists about patient stability.

Published
2023

38. Effect of aliskiren on post-discharge outcomes among diabetic and non-diabetic patients hospitalized for heart failure: insights from the ASTRONAUT trial

Author

Maggioni, AP, Greene, SJ, Fonarow, GC, Bohm, M, Zannad, F, Solomon, SD, Lewis, EF, Baschiera, F, Hua, TA, Gimpelewicz, CR, Lesogor, A, Gheorghiade, M, Ramos, S, Luna, A, Miriuka, S, Diez, M, Perna, E, Luquez, H, Pinna, JG, Castagnino, J, Alvarenga, P, Ibanez, J, Blumberg, ES, Dizeo, C, Guerrero, RA, Schygiel, P, Milesi, R, Sosa, C, Hominal, M, Marquez, LL, Poy, C, Hasbani, E, Vico, M, Fernandez, A, Vita, N, Vanhaecke, J, De Keulenaer, G, Striekwold, H, Vervoort, G, Vrolix, M, Henry, P, Dendale, P, Smolders, W, Marechal, P, Vandekerckhove, H, Oliveira, M, Neuenschwande, F, Reis, G, Saraiva, J, Bodanese, L, Canesin, M, Greco, O, Bassan, R, Marino, RL, Giannetti, N, Moe, G, Sussex, B, Sheppard, R, Huynh, T, Stewart, R, Haddad, H, Echeverria, L, Quintero, A, Torres, A, Jaramillo, M, Lopez, M, Mendoza, F, Florez, N, Cotes, C, Garcia, M, Belohlavek, J, Hradec, J, Peterka, M, Gregor, P, Monhart, Z, Jansky, P, Kettner, J, Reichert, P, Spinar, J, Brabec, T, Hutyra, M, Solar, M, Pietila, M, Nyman, K, Pajari, R, Cohen, A, Galinier, M, Gosse, P, Livarek, B, Neuder, Y, Jourdain, P, Picard, F, Isnard, R, Hoppe, U, Kaeaeb, S, Rosocha, S, Prondzinsky, R, Felix, S, Duengen, H-D, and Figulla, H-R

Subjects
Heart Disease, Clinical Research, Clinical Trials and Supportive Activities, Diabetes, Cardiovascular, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Metabolic and endocrine, Administration, Oral, Amides, Cardiotonic Agents, Death, Sudden, Cardiac, Diabetic Cardiomyopathies, Double-Blind Method, Female, Fumarates, Heart Failure, Hospitalization, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Prospective Studies, Renin, Treatment Outcome, Aliskiren, Outcomes, Post-discharge, ASTRONAUT Investigators and Coordinators, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular System & Hematology
Abstract

AimsThe objective of the Aliskiren Trial on Acute Heart Failure Outcomes (ASTRONAUT) was to determine whether aliskiren, a direct renin inhibitor, would improve post-discharge outcomes in patients with hospitalization for heart failure (HHF) with reduced ejection fraction. Pre-specified subgroup analyses suggested potential heterogeneity in post-discharge outcomes with aliskiren in patients with and without baseline diabetes mellitus (DM).Methods and resultsASTRONAUT included 953 patients without DM (aliskiren 489; placebo 464) and 662 patients with DM (aliskiren 319; placebo 343) (as reported by study investigators). Study endpoints included the first occurrence of cardiovascular death or HHF within 6 and 12 months, all-cause death within 6 and 12 months, and change from baseline in N-terminal pro-B-type natriuretic peptide (NT-proBNP) at 1, 6, and 12 months. Data regarding risk of hyperkalaemia, renal impairment, and hypotension, and changes in additional serum biomarkers were collected. The effect of aliskiren on cardiovascular death or HHF within 6 months (primary endpoint) did not significantly differ by baseline DM status (P = 0.08 for interaction), but reached statistical significance at 12 months (non-DM: HR: 0.80, 95% CI: 0.64-0.99; DM: HR: 1.16, 95% CI: 0.91-1.47; P = 0.03 for interaction). Risk of 12-month all-cause death with aliskiren significantly differed by the presence of baseline DM (non-DM: HR: 0.69, 95% CI: 0.50-0.94; DM: HR: 1.64, 95% CI: 1.15-2.33; P < 0.01 for interaction). Among non-diabetics, aliskiren significantly reduced NT-proBNP through 6 months and plasma troponin I and aldosterone through 12 months, as compared to placebo. Among diabetic patients, aliskiren reduced plasma troponin I and aldosterone relative to placebo through 1 month only. There was a trend towards differing risk of post-baseline potassium ≥6 mmol/L with aliskiren by underlying DM status (non-DM: HR: 1.17, 95% CI: 0.71-1.93; DM: HR: 2.39, 95% CI: 1.30-4.42; P = 0.07 for interaction).ConclusionThis pre-specified subgroup analysis from the ASTRONAUT trial generates the hypothesis that the addition of aliskiren to standard HHF therapy in non-diabetic patients is generally well-tolerated and improves post-discharge outcomes and biomarker profiles. In contrast, diabetic patients receiving aliskiren appear to have worse post-discharge outcomes. Future prospective investigations are needed to confirm potential benefits of renin inhibition in a large cohort of HHF patients without DM.

Published
2013

41. Olfactory receptor 2 deficiency protects from experimental abdominal aortic aneurysm formation

Author

Schelemei, P., primary, Picard, F., additional, Nemade, H., additional, Mehrkens, D., additional, Grimm, S., additional, Tinaz, K., additional, Wagner, E., additional, Kreuzberg, W., additional, Orecchioni, M., additional, Wagenhäuser, M., additional, Schelzig, H., additional, Roy, J., additional, Liljeqvist, M., additional, Mollenhauer, M., additional, Baldus, S., additional, and Winkels, H., additional

Published
2023
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47. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y., Unión Europea. Comisión Europea. H2020, Unión Europea. Comisión Europea. 7 Programa Marco, Instituto de Salud Carlos III, Instituto Nacional de Bioinformatica (España), Ministry of Health (República Checa), Ministry of Education, Youth and Sports (República Checa), Denomme-Pichon, A. -S., Bruel, A. -L., Duffourd, Y., Safraou, H., Thauvin-Robinet, C., Tran Mau-Them, F., Philippe, C., Vitobello, A., Jean-Marcais, N., Moutton, S., Thevenon, J., Faivre, L., Matalonga, L., de Boer, E., Gilissen, C., Hoischen, A., Kleefstra, T., Pfundt, R., de Vries, B. B. A., Willemsen, M. H., Vissers, L. E. L. M., Jackson, A., Banka, S., Clayton-Smith, J., Benetti, E., Fallerini, C., Renieri, A., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Ellwanger, K., Graessner, H., Haack, T. B., Zurek, B., Havlovicova, M., Macek, M., Ryba, L., Schwarz, M., Votypka, P., Lopez-Martin, E., Posada, M., Mencarelli, M. A., Rooryck, C., Trimouille, A., Verloes, A., Abbott, K. M., Kerstjens, M., Martin, E. L., Maystadt, I., Morleo, M., Nigro, V., Pinelli, M., Riess, O., Agathe, J. -M. D. S., Santen, G. W. E., Thauvin, C., Torella, A., Vissers, L., Zguro, K., Boer, E. D., Cohen, E., Danis, D., Gao, F., Horvath, R., Johari, M., Johanson, L., Li, S., Morsy, H., Nelson, I., Paramonov, I., te Paske, I. B. A. W., Robinson, P., Savarese, M., Steyaert, W., Topf, A., van der Velde, J. K., Vandrovcova, J., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Xu, J., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Lerche, H., Kegele, J., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., 't Hoen, P. A. C., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Maddi, V., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Manera, J. D., Hambleton, S., Engelhardt, K., Alexander, E., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Papakonstantinou, A., Bullich, G., Corvo, A., Fernandez-Callejo, M., Hernandez, C., Pico, D., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Lagorce, D., Hongnat, O., Chahdil, M., Lebreton, E., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Ben Yaou, R., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Liskova, P., Dolezalova, P., Parkinson, H., Keane, T., Freeberg, M., Thomas, C., Spalding, D., Robert, G., Costa, A., Patch, C., Hanna, M., Houlden, H., Reilly, M., Efthymiou, S., Cali, E., Magrinelli, F., Sisodiya, S. M., Rohrer, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., de Vries, G., De Winter, J., Beijer, D., de Jonghe, P., Van de Vondel, L., De Ridder, W., Weckhuysen, S., Mutarelli, M., Varavallo, A., Banfi, S., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Gualandi, F., Bigoni, S., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Ruvolo, D., Kerstjens Frederikse, W. S., Zonneveld-Huijssoon, E., Roelofs-Prins, D., van Gijn, M., Kohler, S., Metcalfe, A., Drunat, S., Heron, D., Mignot, C., Keren, B., Lacombe, D., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Cilio, M. -R., Carpancea, E., Depondt, C., Lederer, D., Sznajer, Y., Duerinckx, S., Mary, S., Macaya, A., Cazurro-Gutierrez, A., Perez-Duenas, B., Munell, F., Jarava, C. F., Maso, L. B., Marce-Grau, A., Colobran, R., Hackman, P., Udd, B., Hemelsoet, D., Dermaut, B., Schuermans, N., Poppe, B., Verdin, H., Osorio, A. N., Depienne, C., Roos, A., Cordts, I., Deschauer, M., Striano, P., Zara, F., Riva, A., Iacomino, M., Uva, P., Scala, M., Scudieri, P., Basak, A. N., Claeys, K., Boztug, K., Haimel, M., W. E, G., Ruivenkamp, C. A. L., Natera de Benito, D., Thompson, R., Polavarapu, K., Grimbacher, B., Zaganas, I., Kokosali, E., Lambros, M., Evangeliou, A., Spilioti, M., Kapaki, E., Bourbouli, M., Balicza, P., Molnar, M. J., De la Paz, M. P., Sanchez, E. B., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Schrock, E., Rump, A., Mei, D., Vetro, A., Balestrini, S., Guerrini, R., Chinnery, P. F., Ratnaike, T., Schon, K., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., May, P., Beeson, D., Cossins, J., Furini, S., Afenjar, A., Goldenberg, A., Masurel, A., Phan, A., Dieux-Coeslier, A., Fargeot, A., Guerrot, A. -M., Toutain, A., Molin, A., Sorlin, A., Putoux, A., Jouret, B., Laudier, B., Demeer, B., Doray, B., Bonniaud, B., Isidor, B., Gilbert-Dussardier, B., Leheup, B., Reversade, B., Paul, C., Vincent-Delorme, C., Neiva, C., Poirsier, C., Quelin, C., Chiaverini, C., Coubes, C., Francannet, C., Colson, C., Desplantes, C., Wells, C., Goizet, C., Sanlaville, D., Amram, D., Lehalle, D., Genevieve, D., Gaillard, D., Zivi, E., Sarrazin, E., Steichen, E., Schaefer, E., Lacaze, E., Jacquemin, E., Bongers, E., Kilic, E., Colin, E., Giuliano, F., Prieur, F., Laffargue, F., Morice-Picard, F., Petit, F., Cartault, F., Feillet, F., Baujat, G., Morin, G., Diene, G., Journel, H., Perthus, I., Lespinasse, J., Alessandri, J. -L., Amiel, J., Martinovic, J., Delanne, J., Albuisson, J., Lambert, L., Perrin, L., Ousager, L. B., Van Maldergem, L., Pinson, L., Ruaud, L., Samimi, M., Bournez, M., Bonnet-Dupeyron, M. N., Vincent, M., Jacquemont, M. -L., Cordier-Alex, M. -P., Gerard-Blanluet, M., Willems, M., Spodenkiewicz, M., Doco-Fenzy, M., Rossi, M., Renaud, M., Fradin, M., Mathieu, M., Holder-Espinasse, M. H., Houcinat, N., Hanna, N., Leperrier, N., Chassaing, N., Philip, N., Boute, O., Van Kien, P. K., Parent, P., Bitoun, P., Sarda, P., Vabres, P., Jouk, P. -S., Touraine, R., El Chehadeh, S., Whalen, S., Marlin, S., Passemard, S., Grotto, S., Bellanger, S. A., Blesson, S., Nambot, S., Naudion, S., Lyonnet, S., Odent, S., Attie-Bitach, T., Busa, T., Drouin-Garraud, V., Layet, V., Bizaoui, V., Cusin, V., Capri, Y., Alembik, Y., and Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]

Subjects
Exome reanalysis, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Developmental disorder, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Biology and Life Sciences, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], ClinVar, Rare diseases, All institutes and research themes of the Radboud University Medical Center, Medicine and Health Sciences, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Multidisciplinary, general & others [D99] [Human health sciences], Exome reanalysi, Genetics (clinical)
Abstract

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 779257. Data were analyzed using the RD-Connect Genome-Phenome Analysis Platform, which received funding from the EU projects RD-Connect, Solve-RD, and European Joint Programme on Rare Diseases (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática), and ELIXIR Implementation Studies. The collaborations in this study were facilitated by the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies, one of the 24 European Reference Networks approved by the European Reference Network Board of Member States, cofunded by the European Commission. This project was supported by the Czech Ministry of Health (number 00064203) and by the Czech Ministry of Education, Youth and Sports (number - LM2018132) to M.M. Sí

Published
2023

50. Un diagnostic du bout des lèvres

Author

Dagorret, M., primary, Morice-Picard, F., additional, Tétard, C., additional, Gaschignard, M., additional, Enaud, R., additional, Lamireau, T., additional, and Clouzeau, H., additional

Published
2023
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