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3. La fréquence accrue du cancer du sein chez les jeunes patientes du complexe de Carney suggère un rôle de l’inactivation du gène suppresseur de tumeur PRKAR1A

Author

Vaduva, P., primary, Violon, F., additional, Jouinot, A., additional, Bouys, L., additional, Espiard, S., additional, Bonnet, F., additional, North, M.O., additional, Cardot-Bauters, C., additional, Raverot, G., additional, Hieronimus, S., additional, Lefebvre, H., additional, Nunes, M.L., additional, Tabarin, A., additional, Grousin, L., additional, Assie, G., additional, Sibony, M., additional, Vantyghem, M.C., additional, Pasmant, E., additional, and Bertherat, J., additional

Published
2023
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5. Hyperparathyroïdie primaire isolée d’origine génétique : leçons d’une large série française

Author

Coppin, L., primary, Cuny, T., additional, Salim, S., additional, Le Bras, M., additional, Le Collen, L., additional, Guérin, C., additional, Favriel Trulea, M., additional, Paladino, C., additional, Chevalier, B., additional, Geslot, A., additional, Cambos, S., additional, Vital, P., additional, Raingeard, I., additional, Gilly, O., additional, Vantyghem, M.C., additional, Nunès, M.L., additional, Taïeb, D., additional, Sébag, F., additional, Cardot-Bauters, C., additional, Barlier, A., additional, Odou, M.F., additional, and Romanet, P., additional

Published
2023
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6. Metabolite biomarker discovery for pancreatic neuroendocrine tumors using metabolomic approach

Author

Jannin, A., primary, Dessein, A.F., additional, Dabo, S., additional, Descat, A., additional, Vantyghem, M.C., additional, Chevalier, B., additional, Cardot-Bauters, C., additional, El Amrani, M., additional, Dominguez, S., additional, Marciniak, C., additional, Van Seuningen, I., additional, Do Cao, C., additional, Jonckheere, N., additional, and Coppin, L., additional

Published
2023
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14. Adénome hypophysaire et NEM1–nouvelles données issues de la cohorte du GTE (Groupe d’étude des tumeurs endocrines)

Author

Le Bras, M., primary, Leclerc, H., additional, Rousseau, O., additional, Goudet, P., additional, Cuny, T., additional, Castinetti, F., additional, Cardot-Bauters, C., additional, Chanson, P., additional, Tabarin, A., additional, Gaujoux, S., additional, Christin-Maitre, S., additional, Ruszniewski, P., additional, Borson-Chazot, F., additional, Guilhem, I., additional, Caron, P., additional, Goichot, B., additional, Beckers, A., additional, Delemer, B., additional, Raingeard, I., additional, Verges, B., additional, Smati-Grangeon, S., additional, Wargny, M., additional, Cariou, B., additional, and Hadjadj, S., additional

Published
2021
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19. Le complexe de Carney est-il un syndrome prédisposant au cancer du sein ? Étude prospective de 50 femmes

Author

Vaduva, P., primary, Espiard, S., additional, Jouinot, A., additional, Vantyghem, M.C., additional, Assié, G., additional, Cardot-Bauters, C., additional, Raverot, G., additional, Heironimus, S., additional, Archambeaud-Mouveroux, F., additional, Lefebvre, H., additional, Nunes, M.L., additional, Tabarin, A., additional, Lienhardt, A., additional, Groussin, L., additional, Bonnet, F., additional, North, M.O., additional, and Bertherat, J., additional

Published
2020
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21. Hyperparathyroïdie primaire et grossesse : étude des complications obstétricales et néonatales liées à l’hypercalcémie, données dans la population de patientes atteintes de NEM1

Author

Charbit, J., primary, Goudet, P., additional, Cardot-Bauters, C., additional, Le Bras, M., additional, Borson-Chazot, F., additional, Chevalier, N., additional, Cuny, T., additional, Groussin, L., additional, Tabarin, A., additional, Delemer, B., additional, and Chanson, P., additional

Published
2020
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26. SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients

Author

Saugier-Veber P, Souchon P, Docao C, Cardot-Bauters C, Sendid B, Lefevre H, Marie-Christine Vantyghem, E.H. Kemp, Linda Humbert, Sylvain Dubucquoi, Kerlan, B. Delemer, N. Fabien, Jean-Claude Carel, Isabelle R, Guignat L, Jean-Louis Wémeau, Vanhove L, Jacques Weill, Proust Lemoine E, and Maciejewski Cartigny M

Subjects
medicine.medical_specialty, Ectodermal dystrophy, business.industry, Endocrinology, Diabetes and Metabolism, Autoimmune polyendocrinopathy, APECED Syndrome, medicine.disease, Dermatology, Genetics and Development (including Gene Regulation), How Genetics and Development Impact the Endocrine System, Cohort, Medicine, business, Pneumonitis
Abstract

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France although it is widely described in several European countries. The aim of this study was to report on rare manifestations of APECED syndrome in a French cohort. Patients and methods: We performed a multicentric prospective observational study in France in order to collect clinical, biological, immunological and genetic data, after written informed consent in the frame of a PHRC (Hospital Project of Clinical Research #1927). Bronchiolitis, splenic atrophy and ocular manifestations were systematically investigated. Results We enrolled 25 patients between 2009 and 2016. Clinically, the median age at diagnosis was 12 while the median age of the first manifestation was 6, so there was diagnostic delay. The median number of manifestations was seven. 76 % of patients presented with the classical triad. Reduction of lung function was observed in 62% of patients, asplenism in 26%, and ocular manifestation in 33%. Genetically, eleven mutations of the AIRE gene were identified, two of which never previously reported: an intronic variation c.653-70G>A (intron 5) in a patient with hypoparathyroidism as unique manifestation , and c.1066del (p.Arg356GlyfsX22) (exon 9) in a patient from Guadeloupe with composite heterozygous mutations (c.967_979del13; exon 8). The most common AIRE mutation was the mutation R257X. Median age was 26 and sex ratio was 1.1. Biologically, 100% of tested sera were positive for anti-IFNα-antibodies, 15/18 for anti-IL-22, and 13/18 for anti-IL-17F antibodies. Conclusion: This series shows a high genotypic and phenotypic variability of APECED in France, that could be explained by different ethnic origins. The systematic screening for non-classic manifestations shows a more frequent occurrence than in other series. Systematic screening of asplenism and bronchiolitis could be a useful strategy to make an earlier diagnosis, to prevent infections by vaccination and to treat earlier pulmonary involvement. Lastly, antibodies against Th17 cytokines appear as good soluble markers for diagnosis of non-classical presentation of the syndrome.

Published
2019
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29. Étude pronostique des phéochromocytomes et paragangliomes malins (étude MAPP-Prono) : étude rétrospective des réseaux COMETE et ENSAT

Author

Hescot, S., primary, Vezzosi, D., additional, Amar, L., additional, Fouchardiere, C. De La, additional, Cao, C. Do, additional, Bertherat, J., additional, Goichot, B., additional, Drui, D., additional, Niccoli, P., additional, Laboureau, S., additional, Tabarin, A., additional, Leboulleux, S., additional, Cardot-Bauters, C., additional, Libe, R., additional, Schlumberger, M., additional, Borson-Chazot, F., additional, Gimenez-Roqueplo, A.P., additional, Caron, P., additional, Borget, I., additional, and Baudin, E., additional

Published
2017
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30. Détermination de la fréquence et de l’incidence des manifestations du complexe de Carney à partir d’une première étude prospective incluant 70 patients

Author

Espiard, S., primary, Cardot-Bauters, C., additional, Raverot, G., additional, Nunes, M.L., additional, Brucker-Davis, F., additional, Houang, M., additional, Archambeaud-Mouveroux, F., additional, Lienhardt, A., additional, Lefebvre, H., additional, Chabre, O., additional, Tabarin, A., additional, Vantyghem, M.C., additional, and Bertherat, J., additional

Published
2017
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33. Mapp-prono : étude européenne rétrospective pronostique des phéochromocytomes et paragangliomes malins

Author

Hescot, S., primary, Vezzosi, D., additional, Amar, L., additional, De La Fourchardiere, C., additional, Do Cao, C., additional, Goichot, B., additional, Drui, D., additional, Niccoli, P., additional, Bertherat, J., additional, Borson-Chazot, F., additional, Cardot-Bauters, C., additional, Berdelou, A., additional, Hadoux, J., additional, Laboureau, S., additional, Tabarin, A., additional, Caron, P., additional, Libe, R., additional, Gimenez-Roqueplo, A.P., additional, Leboulleux, S., additional, and Baudin, E., additional

Published
2016
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34. Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study

Author

Thevenon, J, primary, Bourredjem, A, additional, Faivre, L, additional, Cardot-Bauters, C, additional, Calender, A, additional, Le Bras, M, additional, Giraud, S, additional, Niccoli, P, additional, Odou, M F, additional, Borson-Chazot, F, additional, Barlier, A, additional, Lombard-Bohas, C, additional, Clauser, E, additional, Tabarin, A, additional, Pasmant, E, additional, Chabre, O, additional, Castermans, E, additional, Ruszniewski, P, additional, Bertherat, J, additional, Delemer, B, additional, Christin-Maitre, S, additional, Beckers, A, additional, Guilhem, I, additional, Rohmer, V, additional, Goichot, B, additional, Caron, P, additional, Baudin, E, additional, Chanson, P, additional, Groussin, L, additional, Du Boullay, H, additional, Weryha, G, additional, Lecomte, P, additional, Schillo, F, additional, Bihan, H, additional, Archambeaud, F, additional, Kerlan, V, additional, Bourcigaux, N, additional, Kuhn, J M, additional, Vergès, B, additional, Rodier, M, additional, Renard, M, additional, Sadoul, J L, additional, Binquet, C, additional, and Goudet, P, additional

Published
2015
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35. Un max d’adrénaline

Author

Bourry, J., primary, Carnaille, B., additional, Pigny, P., additional, Cardot-Bauters, C., additional, and Mouton, F., additional

Published
2015
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36. 2228 Gastric neuroendocrine tumors (NETs): Data from the national French cohort of the Groupe d'Etude des Tumeurs Endocrines (GTE), CARGAS study

Author

Manfredi, S., primary, Walter, T., additional, Cadiot, G., additional, Baudin, E., additional, Coriat, R., additional, Ruszniewski, P., additional, Lecomte, T., additional, Laurenty, A.P., additional, Goichot, B., additional, Rohmer, V., additional, Roquin, G., additional, Cojocarasu, O.S., additional, Cardot-bauters, C., additional, Legoux, J.L., additional, Borson-chazot, F., additional, Teissier, M.P., additional, Goudet, P., additional, Lepage, C., additional, Laine, F., additional, and Lombard-boas, C., additional

Published
2015
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37. Description prospective des manifestations du complexe de Carney : première analyse du PHRC national EVA-Carney

Author

Espiard, S., primary, Cardot-Bauters, C., additional, Raverot, G., additional, Nunes, M.L., additional, Brucker-Davis, F., additional, Houang, M., additional, Archambeaud, F., additional, Lienhardt, A., additional, Lefebvre, H., additional, Chabre, O., additional, Tabarin, A., additional, Vantyghem, M.C., additional, and Bertherat, J., additional

Published
2015
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38. Histologically Proven Bronchial Neuroendocrine Tumors in MEN1: A GTE 51-Case Cohort Study.

Author

Lecomte, P., Binquet, C., Le Bras, M., Tabarin, A., Cardot-Bauters, C., Borson-Chazot, F., Lombard-Bohas, C., Baudin, E., Delemer, B., Klein, M., Vergès, B., Aparicio, T., Cosson, E., Beckers, A., Caron, Ph., Chabre, O., Chanson, Ph., Du Boullay, H., Guilhem, I., and Niccoli, P.

Subjects
NEUROENDOCRINE tumors, WERMER syndrome, CARCINOID, METASTASIS, BIOPSY
Abstract

Objective: To evaluate the natural history of MEN1-related bronchial endocrine tumors (br-NETs) and to determine their histological characteristics, survival and causes of death. Summary background data: br-NETs frequency ranges from 3 to 13% and may reach 32% depending on the number of patients evaluated and on the criteria required for diagnosis. Methods: The 1023-patient series of symptomatic MEN1 patients followed up in a median of 48.7 [35.5-59.6] years by the Groupe d'étude des Tumeurs Endocrines was analyzed using time-to-event techniques. Results: br-NETs were found in 51 patients (4.8%, [95% CI 3.6-6.2%]) and were discovered by imaging in 86% of cases (CT scan, Octreoscan, Chest X-ray, MRI). Median age at diagnosis was 45 years [28-66]. Histological examination showed 27 (53%) typical carcinoids (TC), 16 (31%) atypical carcinoids (AC), 2 (4%) large cell neuroendocrine carcinomas (LCNEC), 3(6%) small cell neuroendocrine carcinomas (SCLC), 3(6%) TC associated with AC. Overall survival was not different from the rest of the cohort (HR 0.29, [95% CI 0.02-5.14]). AC tended to have a worse prognosis than TC ( p = 0.08). Seven deaths were directly related to br-NETs (three AC, three SCLC and one LCNEC). Patients who underwent surgery survived longer ( p = 10) and were metastasis free, while 8 of 14 non-operated patients were metastatic. There were no operative deaths. Conclusions: Around 5% of MEN1 patients develop br-NETs. br-NETs do not decrease overall survival in MEN1 patients, but poorly differentiated and aggressive br-NETs can cause death. br-NETs must be screened carefully. A biopsy is essential to operate on patients in time. [ABSTRACT FROM AUTHOR]

Published
2018
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42. Grandes délétions germinales du gene CDC73 (HRPT2) fréquentes dans une cohorte nationale française de patients atteints d’hyperparathyroïdie primaire : données du groupe d’étude des tumeurs endocrines (GTE)

Author

Bricaire, L., primary, Odou, M.-F., additional, Cardot-Bauters, C., additional, Delemer, B., additional, Salenave, S., additional, Chanson, P., additional, Kuhn, J.-M., additional, Murat, A., additional, Caron, P., additional, North, M.-O., additional, Clauser, E., additional, Silve, C., additional, Porchet, N., additional, and Groussin, L., additional

Published
2012
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43. Cortisolémie postopératoire indétectable et inertie corticotrope prolongée sont des facteurs prédictifs de rémission prolongée après traitement chirurgical des adénomes corticotropes

Author

Lemaître-Brame, L., primary, Assaker, R., additional, Soto Ares, G., additional, Risbourg, M.-A., additional, Piette, L., additional, Girardot, C., additional, Delecourt, F., additional, Langlois, C., additional, Salleron, J., additional, Duhamel, A., additional, Mouton, F., additional, Cardot Bauters, C., additional, Merlen, E., additional, Vantyghem, M.-C., additional, Maurage, A., additional, Wemeau, J.-L., additional, and Cortet-Rudelli, C., additional

Published
2012
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45. Utilité de la procalcitonine et de son rapport procalcitonine/calcitonine (proCT/CT) comparés au temps de doublement de la calcitonine et/ou ACE dans les cancers médullaires thyroïdiens (CMT) opérés non guéris

Author

Geamanu, M., primary, Cohen, R., additional, Bihan, H., additional, Fysekidis, M., additional, Cardot-bauters, C., additional, Docao, C., additional, Leclerc, L., additional, Vantyghem, M.-C., additional, Wémeau, J.-L., additional, and D’Herbomez, M., additional

Published
2012
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46. Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'étude des Tumeurs Endocrines database

Author

Gatta-Cherifi, B, primary, Chabre, O, additional, Murat, A, additional, Niccoli, P, additional, Cardot-Bauters, C, additional, Rohmer, V, additional, Young, J, additional, Delemer, B, additional, Du Boullay, H, additional, Verger, M F, additional, Kuhn, J M, additional, Sadoul, J L, additional, Ruszniewski, Ph, additional, Beckers, A, additional, Monsaingeon, M, additional, Baudin, E, additional, Goudet, P, additional, and Tabarin, A, additional

Published
2012
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47. Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'étude des Tumeurs Endocrines

Author

Goudet, P, primary, Bonithon-Kopp, C, additional, Murat, A, additional, Ruszniewski, P, additional, Niccoli, P, additional, Ménégaux, F, additional, Chabrier, G, additional, Borson-Chazot, F, additional, Tabarin, A, additional, Bouchard, P, additional, Cadiot, G, additional, Beckers, A, additional, Guilhem, I, additional, Chabre, O, additional, Caron, P, additional, Du Boullay, H, additional, Verges, B, additional, and Cardot-Bauters, C, additional

Published
2011
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