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1. Evaluation of the specificity of the 2023 European Society of Cardiology classification for infective endocarditis.

Author

Moisset, Hugo, Rio, Julien, Suc, Gaspard, Benhard, Johan, Arnoult, Florence, Deconinck, Laurene, Grall, Nathalie, Iung, Bernard, Lescure, Francois-Xavier, Rouzet, François, Hoen, Bruno, Duval, Xavier, and Hobson, Claire Amaris

Subjects
*HEART valves, *INFECTIVE endocarditis, *ARTIFICIAL implants, *ELECTRONIC equipment, *UNIVERSITY hospitals
Abstract

Background: The 2023 Duke-ISCVID and 2023 ESC classifications have recently issued independent diagnostic criteria for infective endocarditis (IE), updating the 2015 ESC criteria. Objectives: The specificity of the 2023 ESC criteria should be evaluated and compared to the two other classifications in IE suspected patients. Methods: We retrospectively collected the characteristics of patients hospitalised in Bichat University Hospital, in 2021, who had been evaluated for suspicion of IE, and in whom IE diagnosis was finally rejected. All were classified by 2015 ESC, 2023 Duke-ISCVID, and 2023 ESC. Results: In total 130 patients were analysed. Mean age was 62 years, 64.6% were male, 30.0% had prosthetic cardiac valve or valve repair, 16.2% had cardiac implanted electronic device, and 23.1% other cardiac conditions. Overall, 2, 5 and 5 patients were falsely classified as definite IE with the 2015 ESC, 2023 Duke-ISCVID and 2023 ESC criteria, respectively. The corresponding specificities were 99% (95% CI [94%; 100%], 96% (95% CI [91%; 99%]), and 96% (95% CI [91%; 99%]). Conclusion: The 2023 ESC and the 2023 Duke-ISCVID criteria are highly specific, although slightly less than the 2015 ESC criteria, for ruling out the diagnosis of definite IE. HIGHLIGHTS: 2023 Duke-ISCVID and 2023 ESC criteria are recently issued diagnostic classifications 2023 ESC criteria have an excellent specificity, equivalent to the 2023 Duke-ISCVID one 2023 ESC criteria and the 2023 Duke-ISCVID are less specific than the 2015 ESC criteria Specificities were quite similar according to the nature of the cardiac valve (native or prosthetic valve) or the duration of antibiotic therapy [ABSTRACT FROM AUTHOR]

Published
2024
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2. Evaluation of the Specificity of the 2023 Duke-International Society of Cardiovascular Infectious Diseases Classification for Infective Endocarditis

Author

Moisset, Hugo, primary, Rio, Julien, additional, Benhard, Johan, additional, Arnoult, Florence, additional, Deconinck, Laurene, additional, Grall, Nathalie, additional, Iung, Bernard, additional, Lescure, Xavier, additional, Rouzet, François, additional, Suc, Gaspard, additional, Hoen, Bruno, additional, Hobson, Claire Amaris, additional, and Duval, Xavier, additional

Published
2024
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3. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a "Question Mark Ear" (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

4. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

5. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Published
2022

6. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, primary, Demir, Zeynep, additional, Gordon, Christopher T., additional, Breton, Sylvain, additional, Romanelli Tavares, Vanessa L., additional, Moisset, Hugo, additional, Zechi‐Ceide, Roseli, additional, Kokitsu‐Nakata, Nancy M., additional, Kido, Yasuhiro, additional, Marlin, Sandrine, additional, Gherbi Halem, Souad, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Chung, Brian, additional, Revencu, Nicole, additional, Lehalle, Daphné, additional, Petit, Florence, additional, Propst, Evan J., additional, Papsin, Blake C., additional, Phillips, John H., additional, Jakobsen, Linda, additional, Le Tanno, Pauline, additional, Thévenon, Julien, additional, McGaughran, Julie, additional, Gerkes, Erica H., additional, Leoni, Chiara, additional, Kroisel, Peter, additional, Tan, Tiong Y., additional, Henderson, Alex, additional, Terhal, Paulien, additional, Basel‐Salmon, Lina, additional, Alkindy, Adila, additional, White, Susan M., additional, Passos‐Bueno, Maria R., additional, Pingault, Véronique, additional, De Pontual, Loïc, additional, and Amiel, Jeanne, additional

Published
2022
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8. Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Author

Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamamoto, Ken, Iwai, Masaru, Tanaka, Toshihiro, Nakamura, Yusuke, Kimura, Wataru, Bole-Feysot, Christine, Vilotte, Marthe, Odent, Sylvie, Vilotte, Jean-Luc, Munnich, Arnold, Regnier, Alain, Chassaing, Nicolas, De Baere, Elfride, Raymond-Letron, Isabelle, Kaplan, Josseline, Calvas, Patrick, Roche, Olivier, and Rozet, Jean-Michel

Published
2015
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