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1. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Author

Vandriel, S, Li, L, She, H, Wang, J, Gilbert, M, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, E, Jacquemin, E, Bouligand, J, Spinner, N, Loomes, K, Piccoli, D, D'Antiga, L, Nicastro, E, Sokal, A, Demaret, T, Ebel, N, Feinstein, J, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S, Romero, R, Kim, K, Baek, W, Hardikar, W, Shankar, S, Roberts, A, Evans, H, Jensen, M, Kavan, M, Sundaram, S, Chaidez, A, Karthikeyan, P, Sanchez, M, Cavalieri, M, Verkade, H, Lee, W, Squires, J, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, H, Bernabeu, J, Alam, S, Kelly, D, Carvalho, E, Ferreira, C, Indolfi, G, Quiros-Tejeira, R, Bulut, P, Calvo, P, Anal, Z, Valentino, P, Desai, D, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, R, Wolters, V, Tamara, M, Zizzo, A, Garcia, J, Schwarz, K, Beretta, M, Sandahl, T, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, C, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, R, Hansen, B, Kamath, B, Vandriel S. M., Li L. -T., She H., Wang J. -S., Gilbert M. A., Jankowska I., Czubkowski P., Gliwicz-Miedzinska D., Gonzales E. M., Jacquemin E., Bouligand J., Spinner N. B., Loomes K. M., Piccoli D. A., D'Antiga L., Nicastro E., Sokal A., Demaret T., Ebel N. H., Feinstein J. A., Fawaz R., Nastasio S., Lacaille F., Debray D., Arnell H., Fischler B., Siew S., Stormon M., Karpen S. J., Romero R., Kim K. M., Baek W. Y., Hardikar W., Shankar S., Roberts A. J., Evans H. M., Jensen M. K., Kavan M., Sundaram S. S., Chaidez A., Karthikeyan P., Sanchez M. C., Cavalieri M. L., Verkade H. J., Lee W. S., Squires J. E., Hajinicolaou C., Lertudomphonwanit C., Fischer R. T., Larson-Nath C., Mozer-Glassberg Y., Arikan C., Lin H. C., Bernabeu J. Q., Alam S., Kelly D. A., Carvalho E., Ferreira C. T., Indolfi G., Quiros-Tejeira R. E., Bulut P., Calvo P. L., Anal Z., Valentino P. L., Desai D. M., Eshun J., Rogalidou M., Dezsofi A., Wiecek S., Nebbia G., Pinto R. B., Wolters V. M., Tamara M. L., Zizzo A. N., Garcia J., Schwarz K., Beretta M., Sandahl T. D., Jimenez-Rivera C., Kerkar N., Brecelj J., Mujawar Q., Rock N., Busoms C. M., Karnsakul W., Lurz E., Santos-Silva E., Blondet N., Bujanda L., Shah U., Thompson R. J., Hansen B. E., Kamath B. M., Vandriel, S, Li, L, She, H, Wang, J, Gilbert, M, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, E, Jacquemin, E, Bouligand, J, Spinner, N, Loomes, K, Piccoli, D, D'Antiga, L, Nicastro, E, Sokal, A, Demaret, T, Ebel, N, Feinstein, J, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, S, Romero, R, Kim, K, Baek, W, Hardikar, W, Shankar, S, Roberts, A, Evans, H, Jensen, M, Kavan, M, Sundaram, S, Chaidez, A, Karthikeyan, P, Sanchez, M, Cavalieri, M, Verkade, H, Lee, W, Squires, J, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, R, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, H, Bernabeu, J, Alam, S, Kelly, D, Carvalho, E, Ferreira, C, Indolfi, G, Quiros-Tejeira, R, Bulut, P, Calvo, P, Anal, Z, Valentino, P, Desai, D, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, R, Wolters, V, Tamara, M, Zizzo, A, Garcia, J, Schwarz, K, Beretta, M, Sandahl, T, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, C, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, R, Hansen, B, Kamath, B, Vandriel S. M., Li L. -T., She H., Wang J. -S., Gilbert M. A., Jankowska I., Czubkowski P., Gliwicz-Miedzinska D., Gonzales E. M., Jacquemin E., Bouligand J., Spinner N. B., Loomes K. M., Piccoli D. A., D'Antiga L., Nicastro E., Sokal A., Demaret T., Ebel N. H., Feinstein J. A., Fawaz R., Nastasio S., Lacaille F., Debray D., Arnell H., Fischler B., Siew S., Stormon M., Karpen S. J., Romero R., Kim K. M., Baek W. Y., Hardikar W., Shankar S., Roberts A. J., Evans H. M., Jensen M. K., Kavan M., Sundaram S. S., Chaidez A., Karthikeyan P., Sanchez M. C., Cavalieri M. L., Verkade H. J., Lee W. S., Squires J. E., Hajinicolaou C., Lertudomphonwanit C., Fischer R. T., Larson-Nath C., Mozer-Glassberg Y., Arikan C., Lin H. C., Bernabeu J. Q., Alam S., Kelly D. A., Carvalho E., Ferreira C. T., Indolfi G., Quiros-Tejeira R. E., Bulut P., Calvo P. L., Anal Z., Valentino P. L., Desai D. M., Eshun J., Rogalidou M., Dezsofi A., Wiecek S., Nebbia G., Pinto R. B., Wolters V. M., Tamara M. L., Zizzo A. N., Garcia J., Schwarz K., Beretta M., Sandahl T. D., Jimenez-Rivera C., Kerkar N., Brecelj J., Mujawar Q., Rock N., Busoms C. M., Karnsakul W., Lurz E., Santos-Silva E., Blondet N., Bujanda L., Shah U., Thompson R. J., Hansen B. E., and Kamath B. M.

Abstract

Background and Aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. Approach and Results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced ≥1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those ≥10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those <5.0 mg/dl. Median TB levels between ≥5.0 and <10.0 mg/dl and >10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to ≥5.0 mg/dl, with 79% reaching adulthood with native liver (p < 0.001). Conclusions: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies.

Published
2023

7. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani L, Cools M, Ioakim S, Ahmed SF, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, and et al

Subjects
congenital hypogonadotropic hypogonadism, disorders of sex development, next-generation sequencing, primary ovarian insufficiency, rare diseases or syndromes
Abstract

Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions, and next-generation sequencing (NGS) should represent the most appropriate approach. Therefore, we conducted a survey dedicated to the use and potential outcomes of NGS for SDM disorders diagnosis among the 53 health care providers (HCP) of the European Reference Network for rare endocrine conditions. The response rate was 49% with a total of 26 HCPs from 13 countries. All HCPs, except 1, performed NGS investigations for SDM disorders on 6720 patients, 3764 (56%) with differences of sex development (DSD), including 811 unexplained primary ovarian insufficiency, and 2956 (44%) with congenital hypogonadotropic hypogonadism (CHH). The approaches varied from targeted analysis of custom gene panels (range: 11-490 genes) in 81.5% of cases or whole exome sequencing with the extraction of a virtual panel in the remaining cases. These analyses were performed for diagnostic purposes in 21 HCPs, supported by the National Health Systems in 16 cases. The likelihood of finding a variant ranged between 7 and 60%, mainly depending upon the number of analysed genes or criteria used for reporting, most HCPs also reporting variants of uncertain significance. These data illustrate the status of genetic diagnosis of DSD and CHH across Europe. In most countries, these analyses are performed for diagnostic purposes, yielding highly variable results, thus suggesting the need for harmonization and general improvements of NGS approaches.

Published
2022

8. Lysine demethylase KDM1A et expression ectopique du récepteur du GIP dans les adénomes hypophysaires somatotropes

Author

Chasseloup, F., primary, Tosca, L., additional, Proust, A., additional, Kuhn, E., additional, Hage, M., additional, Jublanc, C., additional, Occhi, G., additional, Regazzo, D., additional, Salenave, S., additional, Gaillard, S., additional, Parker, F., additional, Boch, A.L., additional, Bouligand, J., additional, Chanson, P., additional, and Kamenicky, P., additional

Published
2022
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10. La perte de la lysine demethylase KDM1A est la cause de l’hyperplasie macronodulaire bilatérale des surrénales GIP-dépendante

Author

Chasseloup, F., primary, Bourdeau, I., additional, Tabarin, A., additional, Regazzo, D., additional, Dumontet, C., additional, Ladurelle, N., additional, Tosca, L., additional, Amazit, L., additional, Proust, A., additional, Scharfmann, R., additional, Fiore, F., additional, Tsagarakis, S., additional, Vassiliadi, D., additional, Maiter, D., additional, Young, J., additional, Lecoq, A.L., additional, Demeocq, V., additional, Salenave, S., additional, Lefebvre, H., additional, Cloix, L., additional, Emy, P., additional, Desailloud, R., additional, Vezzosi, D., additional, Scaroni, C., additional, Barbot, M., additional, De Herder, W., additional, Pattou, F., additional, Tetreault, M., additional, Corbeil, G., additional, Dupeux, M., additional, Lambert, B., additional, Tachdjian, G., additional, Guiochon-Mantel, A., additional, Beau, I., additional, Chanson, P., additional, Viengchareun, S., additional, Lacroix, A., additional, Bouligand, J., additional, and Kamenicky, P., additional

Published
2022
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11. La perte de la lysine demethylase KDM1A est la cause de l’hyperplasie macronodulaire bilatérale des surrénales GIP-dépendante

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, F., Bourdeau, I., Tabarin, A., Regazzo, D., Dumontet, C., Ladurelle, N., Tosca, L., Amazit, L., Proust, A., Scharfmann, R., Fiore, F., Tsagarakis, S., Vassiliadi, D., Maiter, Dominique, Young, J., Lecoq, A.L., Demeocq, V., Salenave, S., Lefebvre, H., Cloix, L., Emy, P., Desailloud, R., Vezzosi, D., Scaroni, C., Barbot, M., De Herder, W., Pattou, F., Tetreault, M., Corbeil, G., Dupeux, M., Lambert, B., Tachdjian, G., Guiochon-Mantel, A., Beau, I., Chanson, P., Viengchareun, S., Lacroix, A., Bouligand, J., Kamenicky, P., 38e Congrès SFE Octobre 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, F., Bourdeau, I., Tabarin, A., Regazzo, D., Dumontet, C., Ladurelle, N., Tosca, L., Amazit, L., Proust, A., Scharfmann, R., Fiore, F., Tsagarakis, S., Vassiliadi, D., Maiter, Dominique, Young, J., Lecoq, A.L., Demeocq, V., Salenave, S., Lefebvre, H., Cloix, L., Emy, P., Desailloud, R., Vezzosi, D., Scaroni, C., Barbot, M., De Herder, W., Pattou, F., Tetreault, M., Corbeil, G., Dupeux, M., Lambert, B., Tachdjian, G., Guiochon-Mantel, A., Beau, I., Chanson, P., Viengchareun, S., Lacroix, A., Bouligand, J., Kamenicky, P., and 38e Congrès SFE Octobre 2022

Abstract

INTRODUCTION : L’hyperplasie macronodulaire bilatérale des surrénales (HMBS) GIP-dépendante avec syndrome de Cushing est due à l’expression ectopique du récepteur du GIP (GIPR) dans ces lésions surrénaliennes. Notre objectif était d’identifier la cause moléculaire de cette pathologie. [...]

Published
2022

12. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Author

Vandriel, SM, Li, L-T, She, H, Wang, J-S, Gilbert, MA, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, EM, Jacquemin, E, Bouligand, J, Spinner, NB, Loomes, KM, Piccoli, DA, D'Antiga, L, Nicastro, E, Sokal, E, Demaret, T, Ebel, NH, Feinstein, JA, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, SJ, Romero, R, Kim, KM, Baek, WY, Hardikar, W, Shankar, S, Roberts, AJ, Evans, HM, Jensen, MK, Kavan, M, Sundaram, SS, Chaidez, A, Karthikeyan, P, Sanchez, MC, Cavalieri, ML, Verkade, HJ, Lee, WS, Squires, JE, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, RT, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, HC, Bernabeu, JQ, Alam, S, Kelly, DA, Carvalho, E, Ferreira, CT, Indolfi, G, Quiros-Tejeira, RE, Bulut, P, Calvo, PL, Onal, Z, Valentino, PL, Desai, DM, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, RB, Wolters, VM, Tamara, ML, Zizzo, AN, Garcia, J, Schwarz, K, Beretta, M, Sandahl, TD, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, CM, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, RJ, Hansen, BE, Kamath, BM, Vandriel, SM, Li, L-T, She, H, Wang, J-S, Gilbert, MA, Jankowska, I, Czubkowski, P, Gliwicz-Miedzinska, D, Gonzales, EM, Jacquemin, E, Bouligand, J, Spinner, NB, Loomes, KM, Piccoli, DA, D'Antiga, L, Nicastro, E, Sokal, E, Demaret, T, Ebel, NH, Feinstein, JA, Fawaz, R, Nastasio, S, Lacaille, F, Debray, D, Arnell, H, Fischler, B, Siew, S, Stormon, M, Karpen, SJ, Romero, R, Kim, KM, Baek, WY, Hardikar, W, Shankar, S, Roberts, AJ, Evans, HM, Jensen, MK, Kavan, M, Sundaram, SS, Chaidez, A, Karthikeyan, P, Sanchez, MC, Cavalieri, ML, Verkade, HJ, Lee, WS, Squires, JE, Hajinicolaou, C, Lertudomphonwanit, C, Fischer, RT, Larson-Nath, C, Mozer-Glassberg, Y, Arikan, C, Lin, HC, Bernabeu, JQ, Alam, S, Kelly, DA, Carvalho, E, Ferreira, CT, Indolfi, G, Quiros-Tejeira, RE, Bulut, P, Calvo, PL, Onal, Z, Valentino, PL, Desai, DM, Eshun, J, Rogalidou, M, Dezsofi, A, Wiecek, S, Nebbia, G, Pinto, RB, Wolters, VM, Tamara, ML, Zizzo, AN, Garcia, J, Schwarz, K, Beretta, M, Sandahl, TD, Jimenez-Rivera, C, Kerkar, N, Brecelj, J, Mujawar, Q, Rock, N, Busoms, CM, Karnsakul, W, Lurz, E, Santos-Silva, E, Blondet, N, Bujanda, L, Shah, U, Thompson, RJ, Hansen, BE, and Kamath, BM

Abstract

BACKGROUND AND AIMS: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. APPROACH AND RESULTS: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced ≥1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those ≥10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those <5.0 mg/dl. Median TB levels between ≥5.0 and <10.0 mg/dl and >10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to ≥5.0 mg/dl, with 79% reaching adulthood with native liver ( p < 0.001). CONCLUSIONS: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies.

Published
2022

13. Natural history of liver disease in a large international cohort of children with Alagille syndrome: results from The GALA Study

Author

Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Vandriel, S.M.; Li, L.T.; She, H.; Wang, J.S.; Gilbert, M.A.; Jankowska, I.; Czubkowski, P.; Gliwicz-Miedzi?ska, D.; Gonzales, E.M.; Jacquemin, E.; Bouligand, J.; Spinner, N.B.; Loomes, K.M.; Piccoli, D.A.; D'Antiga, L.; Nicastro, E.; Sokal, É.; Demaret, T.; Ebel, N.H.; Feinstein, J.A.; Fawaz, R.; Nastasio, S.; Lacaille, F.; Debray, D.; Arnell, H.; Fischler, B.; Siew, S.; Stormon, M.; Karpen, S.J.; Romero, R.; Kim, K.M.; Baek, W.Y.; Hardikar, W.; Shankar, S.; Roberts, A.J.; Evans, H.M.; Jensen, M.K.; Kavan, M.; Sundaram, S.S.; Chaidez, A.; Karthikeyan, P.; Sanchez, M.C.; Cavalieri, M.L.; Verkade, H.J.; Lee, W.S.; Squires, J.E.; Hajinicolaou, C.; Lertudomphonwanit, C.; Fischer, R.T.; Larson-Nath, C.; Mozer-Glassberg, Y.; Lin, H.C.; Quintero, Bernabeu J.; Alam, S.; Kelly, D.; Carvalho, E.; Ferreira, C.T.; Indolfi, G.; Quiros-Tejeira, R.E.; Bulut, P.; Calvo, P.L.; Önal, Z.; Valentino, P.L.; Desai, D.M.; Eshun, J.; Rogalidou, M.; Dezs?fi, A.; Wiecek, S.; Nebbia, G.; Borges Pinto, R.; Wolters, V.M.; Tamara, M.L.; Zizzo, A.N.; Garcia, J.; Schwarz, K.; Beretta, M.; Sandahl, T.D.; Jimenez-Rivera, C.; Kerkar, N.; Brecelj, J.; Mujawar, Q.; Rock, N.; Busoms, C.M.; Karnsakul, W.; Lurz, E.; Santos-Silva, E.; Blondet, N.; Bujanda, L.; Shah, U.; Thompson, R.J.; Hansen, B.E.; Kamath, B.M.; Global ALagille Alliance (GALA) Study Group, Koç University Hospital, School of Medicine, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Vandriel, S.M.; Li, L.T.; She, H.; Wang, J.S.; Gilbert, M.A.; Jankowska, I.; Czubkowski, P.; Gliwicz-Miedzi?ska, D.; Gonzales, E.M.; Jacquemin, E.; Bouligand, J.; Spinner, N.B.; Loomes, K.M.; Piccoli, D.A.; D'Antiga, L.; Nicastro, E.; Sokal, É.; Demaret, T.; Ebel, N.H.; Feinstein, J.A.; Fawaz, R.; Nastasio, S.; Lacaille, F.; Debray, D.; Arnell, H.; Fischler, B.; Siew, S.; Stormon, M.; Karpen, S.J.; Romero, R.; Kim, K.M.; Baek, W.Y.; Hardikar, W.; Shankar, S.; Roberts, A.J.; Evans, H.M.; Jensen, M.K.; Kavan, M.; Sundaram, S.S.; Chaidez, A.; Karthikeyan, P.; Sanchez, M.C.; Cavalieri, M.L.; Verkade, H.J.; Lee, W.S.; Squires, J.E.; Hajinicolaou, C.; Lertudomphonwanit, C.; Fischer, R.T.; Larson-Nath, C.; Mozer-Glassberg, Y.; Lin, H.C.; Quintero, Bernabeu J.; Alam, S.; Kelly, D.; Carvalho, E.; Ferreira, C.T.; Indolfi, G.; Quiros-Tejeira, R.E.; Bulut, P.; Calvo, P.L.; Önal, Z.; Valentino, P.L.; Desai, D.M.; Eshun, J.; Rogalidou, M.; Dezs?fi, A.; Wiecek, S.; Nebbia, G.; Borges Pinto, R.; Wolters, V.M.; Tamara, M.L.; Zizzo, A.N.; Garcia, J.; Schwarz, K.; Beretta, M.; Sandahl, T.D.; Jimenez-Rivera, C.; Kerkar, N.; Brecelj, J.; Mujawar, Q.; Rock, N.; Busoms, C.M.; Karnsakul, W.; Lurz, E.; Santos-Silva, E.; Blondet, N.; Bujanda, L.; Shah, U.; Thompson, R.J.; Hansen, B.E.; Kamath, B.M.; Global ALagille Alliance (GALA) Study Group, Koç University Hospital, and School of Medicine

Abstract

Background and aims: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international cohort of children with ALGS. Approach and results: This was a multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born between January 1997 and August 2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. In total, 1433 children (57% male) from 67 centers in 29 countries were included. The 10 and 18-year NLS rates were 54.4% and 40.3%. By 10 and 18 years, 51.5% and 66.0% of children with ALGS experienced >= 1 adverse liver-related event (CEPH, transplant, or death). Children (>6 and <= 12 months) with median total bilirubin (TB) levels between >= 5.0 and <10.0 mg/dl had a 4.1-fold (95% confidence interval [CI], 1.6-10.8), and those >= 10.0 mg/dl had an 8.0-fold (95% CI, 3.4-18.4) increased risk of developing CEPH compared with those 10.0 mg/dl were associated with a 4.8 (95% CI, 2.4-9.7) and 15.6 (95% CI, 8.7-28.2) increased risk of transplantation relative to <5.0 mg/dl. Median TB <5.0 mg/dl were associated with higher NLS rates relative to >= 5.0 mg/dl, with 79% reaching adulthood with native liver (p < 0.001). Conclusions: in this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dl between 6 and 12 months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of therapies., This study received funding support from the following agencies: The Alagille Syndrome Alliance, Mirum Pharmaceuticals Inc. and Albireo Pharma, Inc. who provided unrestricted educational grants to the Hospital for Sick Children (SickKids Foundation). The study sponsors were not involved in the conduct of the research study or preparation of the manuscript.

Published
2022

14. Caractérisation moléculaire et description clinicobiologique d’une nouvelle mutation de KISS1 identifiée dans une famille avec hypogonadisme hypogonadotrope congénital (HHC)

Author

Zaegel, N., Bouligand, J., Illouz, F., Levaillant, L., Magnin, F., Ait-Tayeb, A.E.K., Briet, C., Young, J., Coutant, R., and Maione, L.

Abstract

La kisspeptine, codée par le gène KISS1, est un neuropeptide hypothalamique contrôlant la sécrétion de GnRH chez tous les mammifères. À présent, seule une mutation faux-sens biallélique de KISS1, associée à un hypogonadisme hypogonadotrope congénital (HHC) profond sans anosmie, a été décrite.

Published
2024
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15. Conséquence de la perte fonctionnelle de la lysine déméthylase KDM1A sur la méthylation des histones, la conformation chromatinienne et expression génique dans l’hyperplasie macronodulaire bilatérale des surrénales GIP-dépendante

Author

Chasseloup, F., Syx, L., Ancelin, K., Ladurelle, N., Amazit, L., Fiore, F., Lambert, B., Viengchareun, S., Cloix, L., Nunes, M.L., Galioot, A., Barbot, M., Regazzo, D., Scaroni, C., Pattou, F., Maiter, D., Tsagarakis, S., Desailloud, R., Emy, P., Bourdeau, I., Lacroix, A., Lefebvre, H., Young, J., Tabarin, A., Bouligand, J., Servant, N., and Kamenicky, P.

Abstract

L’hyperplasie macronodulaire bilatérale des surrénales GIP-dépendante (GIP-HBMS) est liée à l’inactivation génétique de l’histone déméthylase KDM1Aet touche majoritairement les femmes (sex-ratio 12:1). Les conséquences de la perte fonctionnelle de KDM1A sur la méthylation des histones, le remodelage chromatinien et l’expression génique, et son possible rôle dans l’inactivation du chromosome X ne sont pas bien connues.

Published
2024
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22. Maralixibat-treated patients with Alagille syndrome (ALGS) demonstrate improved event-free survival in a natural history comparison with patients from the GALA database: application of real-world evidence analytics.

Author

Hansen, B. E., Vandriel, S. M., Vig, P., Garner, W., Li, L.-T., She, H., Wang, J.-S., Gilbert, M. A., Jankowska, I., Czubkowski, P., Gliwicz-Miedzińska, D., Gonzales, E. M., Jacquemin, E., Bouligand, J., Spinner, N. B., Loomes, K. M., Piccoli, D. A., D'Antiga, L., Nicastro, E., and Sokal, É.

Published
2022
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23. Hyperparathyroïdie hypercalcémique chez les patients avec acromégalie

Author

Laure, C., Lecoq, A.L., Chasseloup, F., Salenave, S., Maione, L., Bouligand, J., Trabado, S., Young, J., Chanson, P., and Kamenický, P.

Abstract

L’acromégalie s’accompagne souvent d’anomalies du bilan phosphocalcique, incluant une hyperphosphatémie et une augmentation de la calcémie en rapport avec l’action de l’IGF-1 dans le tubule proximal. En plus, l’acromégalie peut s’associer avec une hyperparathyroïdie, soit dans le contexte de la NEM1 et 4, ou, majoritairement, sans anomalies génétiques identifiés. Notre objectif était de préciser les caractéristiques phénotypiques des patients ayant une acromégalie avec une hyperparathyroïdie.

Published
2024
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24. Pénétrance de l’hyperplasie macronodulaire bilatérale des surrénales GIP-dépendante avec syndrome de Cushing chez les porteurs de mutations de KDM1A

Author

Chasseloup, F., Cloix, L., Nunes, M.L., Galliot, P., Richa, C., Herrou, A.F., Salenave, S., Ait-Tayeb, A.E.K., Galioot, A., Meyrignac, O., Barbot, M., Regazzo, D., Maiter, D., Tsagarakis, S., Desailloud, R., Emy, P., Bourdeau, I., Lacroix, A., Nocturne, G., Trabado, S., Young, J., Tabarin, A., Bouligand, J., and Kamenicky, P.

Abstract

L’hyperplasie macronodulaire bilatérale des surrénales (HMBS) GIP-dépendante est une maladie génétique liée à une inactivation du gène KDM1Aselon un modèle de gène suppresseur de tumeur. Notre objectif était d’évaluer la pénétrance et l’histoire naturelle de l’atteinte surrénalienne chez des porteurs de variants pathogènes de KDM1A.

Published
2024
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26. Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge

Author

Child Health, Genetica Klinische Genetica, Urologie Medisch Kinderen, Other research (not in main researchprogram), Tosca, L, Giltay, J C, Bouvattier, C, Klijn, A J, Bouligand, J, Lambert, A S, Lecerf, L, Josso, N, Tachdjian, G, Picard, J Y, Child Health, Genetica Klinische Genetica, Urologie Medisch Kinderen, Other research (not in main researchprogram), Tosca, L, Giltay, J C, Bouvattier, C, Klijn, A J, Bouligand, J, Lambert, A S, Lecerf, L, Josso, N, Tachdjian, G, and Picard, J Y

Published
2020

28. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Author

Thauvin-Robinet, Christel, Munck, Anne, Huet, Frédéric, de Becdelièvre, Alix, Jimenez, Clément, Lalau, Guy, Gautier, Elodie, Rollet, Jacques, Flori, Jean, Nové-Josserand, Raphaëlle, Soufir, Jean-Claude, Haloun, Alain, Hubert, Dominique, Houssin, Elise, Bellis, Gil, Rault, Gilles, David, Albert, Janny, Laurent, Chiron, Raphaël, Rives, Nathalie, Hairion, Dominique, Collignon, Patrick, Valeri, Antoine, Karsenty, Gilles, Rossi, Annick, Audrézet, Marie-Pierre, Férec, Claude, Leclerc, Julie, Georges, Marie des, Claustres, Mireille, Bienvenu, Thierry, Gérard, Bénédicte, Boisseau, Pierre, Cabet-Bey, Faïza, Cheillan, David, Feldmann, Delphine, Clavel, Christine, Bieth, Eric, Iron, Albert, Simon-Bouy, Brigitte, Izard, Vincent, Steffann, Julie, Viville, Stéphane, Costa, Catherine, Drouineaud, Véronique, Fauque, Patricia, Binquet, Christine, Bonithon-Kopp, Claire, Morris, Mike A, Faivre, Laurence, Goossens, Michel, Roussey, Michel, Girodon, Emmanuelle, Bazin, A, Blayau, M, Bonnefont, JP, Bouligand, J, Chéry, M, Chevalier-Porst, F, Costa, JM, Coude, M, Creveaux, I, Dalstein, V, Gerson, F, Gobin-Limballe, S, Gouget, AM, Kitzis, A, Lagier-Tourenne, C, Magdelaine, C, Malinge, MC, Malzac, P, Mittre, H, Petit, V, Philippe, C, Ray, P, Raynaud, M, Ronsin, C, Schmitt, S, Albert, M, Bassinet, L, Bellon, G, Bonnefoy, S, Bourouillou, G, Bremont, F, Brechard, MP, Chardot, C, Chevalier, MC, Chiesa, J, Ciolkovitch, A, Clement, A, Corvol, H, Counil, F, Costa, P, David, V, Delacourt, C, Delafontaine, D, Delepoulle, F, Delrue, MA, Deneuville, E, Derelle, J, Desrues, B, Dominique, S, Fanton, AL, Foucaud, P, Freour, T, Froment, S, Gaillard, D, Gérardin, M, Giacomini, P, Gambert, C, Gautier, E, Ginies, JL, Ginglinger, E, Gottrand, F, Guichet, A, Guillot, M, Heraud, MC, Houriez-Bertolo, E, Jeandidier, E, Journel, H, Labarière, Lahsinat, K, Langlais, S, Languepin, J, Laurans, M, Lauton, D, Layet, V, Le Bourgeois, M, Le Lannou, D, Lejeune, H, Lenoir, G, Leroy, S, Lestrade, F, Llerena, C, Marc, B, Marchand, S, Marguet, C, Marteletti, O, Massat, G, Masurel-Paulet, A, Mely, L, Menetrey, C, Moisan-Petit, V, Montcouquiol, S, Moreau, L, Odent, S, Pagenault, M, Parent, P, Pautard, JC, Perez-Martin, S, Peter, MO, Pierre, D, Pin, I, Plessis, G, Ramel, S, Rembert-Sagot, F, Roux, C, Royere, D, Sardet, A, Sarles, J, Sermet-Gaudelus, I, Siffroi, JP, Saulnier, JP, Sehabiague, J, Sinet, PM, Tassin, E, Terro, F, Turck, D, Vodoff, MV, Wagner, L, and Weiss, L

Published
2013
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39. Anomalies chromosomiques et architecture sous-clonale des adénomes somatotropes

Author

Hage, M., primary, Viengchareun, S., additional, Brunet, E., additional, Villa, C., additional, Pineau, D., additional, Bouligand, J., additional, Teglas, J.-P., additional, Adam, C., additional, Parker, F., additional, Lombès, M., additional, Tachdjian, G., additional, Gaillard, S., additional, Chanson, P., additional, Tosca, L., additional, and Kamenický, P., additional

Published
2018
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43. Découverte par exome ciblé d’une nouvelle mutation homozygote de MCM8 chez des femmes avec insuffisance ovarienne prématurée membres d’une famille consanguine. Caractérisation fonctionnelle

Author

Bouali, N., primary, Francou, B., additional, Bouligand, J., additional, Imanci, D., additional, Dimessi, S., additional, Tosca, L., additional, Zaouali, M., additional, Mougou, S., additional, Young, J., additional, Saad, A., additional, and Guiochon-Mantel, A., additional

Published
2017
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44. Expression surrénalienne du glucose-dependent insulinotropic peptide receptor (GIPR) et microduplications de la région 19q13 dans le syndrome de Cushing dépendant de l’alimentation

Author

Lecoq, A.L., primary, Stratakis, C., additional, Viengchareun, S., additional, Chaligné, R., additional, Tosca, L., additional, Deméocq, V., additional, Hage, M., additional, Berthon, A., additional, Hanna, P., additional, Young, J., additional, Lombès, M., additional, Bourdeau, I., additional, Maiter, D., additional, Tabarin, A., additional, Bertherat, J., additional, Lefebvre, H., additional, De Herder, W., additional, Louiset, E., additional, Lacroix, A., additional, Chanson, P., additional, Bouligand, J., additional, and Kamenicky, P., additional

Published
2017
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50. Position statement on the diagnosis and management of congenital pituitary deficiency in adults: the French National Diagnosis and Treatment Protocol (NDTP)

Author

Castets, S., Albarel, F., Bachelot, A., Brun, G., Bouligand, J., Briet, C., Bui Quoc, E., Cazabat, C., Chabbert-Buffet, C., Christin-Maitre, S., Courtillot, C., Cuny, T., De Filippo, G., Donadille, B., Illouz, F., Pellegrini, I., Reznik, Y., Saveanu, A., Teissier, N., Touraine, P., Vantyghem, MC., Vergier, J., Léger, J., Brue, T., and Reynaud, R.

Abstract

Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development. The present study focuses on congenital pituitary deficiency in adults, from diagnosis to follow-up, including special situations such as pregnancy or the elderly. The clinical presentation is highly variable, ranging from isolated deficit to multiple deficits, which may be part of a syndromic form or not. Diagnosis is based on a combination of clinical, biological (assessment of all hormonal axes), radiological (brain and hypothalamic-pituitary MRI) and genetic factors. Treatment consists in hormonal replacement therapy, adapted according to the period of life and the deficits, which may be progressive. Comorbidities, risk of complications and acute decompensation, and the impact on fertility and quality of life all require adaptative multidisciplinary care and long-term monitoring.

Published
2024
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