Genome-wide methylation analysis in patients with proximal hypospadias – a pilot study and review of the literature

Autor: Yolande van Bever, Ruben G Boers, Hennie T Brüggenwirth, Wilfred Fj van IJcken, Frank J Magielsen, Annelies de Klein, Joachim B Boers, Leendert Hj Looijenga, Erwin Brosens, Joost Gribnau, Sabine E Hannema

Publikováno v: Epigenetics, Vol 19, Iss 1 (2024)

In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene products. We hypothesised tha

Externí odkaz: https://doaj.org/article/71fec12029654280bacf538ebc935943

We mind your step: understanding and preventing drop-out in the transfer from paediatric to adult tertiary endocrine healthcare

Autor: Kirsten Davidse, Anneloes van Staa, Wanda Geilvoet, Judith P van Eck, Karlijn Pellikaan, Janneke Baan, Anita C S Hokken-Koelega, Erica L T van den Akker, Theo Sas, Sabine E Hannema, Aart Jan van der Lely, Laura C G de Graaff

Publikováno v: Endocrine Connections, Vol 11, Iss 5, Pp 1-9 (2022)

Introduction: Transition from paediatric to adult endocrinology can be challenging for adolescents, their families and healthcare professionals. Previous studies have shown that up to 25% of young adults with endocrine disorders are lost to follow-up

Externí odkaz: https://doaj.org/article/cd9ce8248c13458b9860b13aea53d851

Treatment of congenital adrenal hyperplasia in children aged 0-3 years

Autor: Uta Neumann, Annelieke van der Linde, Ruth E Krone, Nils P Krone, Ayla Güven, Tülay Güran, Heba Elsedfy, Sukran Poyrazoglu, Feyza Darendeliler, Tania A S S Bachega, Antonio Balsamo, Sabine E Hannema, Niels Birkebaek, Ana Vieites, Ajay Thankamony, Martine Cools, Tatjana Milenkovic, Walter Bonfig, Eduardo Correa Costa, Navoda Atapattu, Liat de Vries, Guilherme Guaragna-Filho, Marta Korbonits, Klaus Mohnike, Jillian Bryce, S Faisal Ahmed, Bernard Voet, Oliver Blankenstein, Hedi L Claahsen-van der Grinten

Publikováno v: Neumann, U, van der Linde, A, Krone, R E, Krone, N P, Güven, A, Güran, T, Elsedfy, H, Poyrazoglu, S, Darendeliler, F, Bachega, T A, Balsamo, A, Hannema, S E, Birkebæk, N, Vieites, A, Thankamony, A, Cools, M, Milenkovic, T, Bonfig, W, Costa, E C, Atapattu, N, de Vries, L, Guaragna-Filho, G, Korbonits, M, Mohnike, K, Bryce, J, Ahmed, S F, Voet, B, Blankenstein, O & Claahsen-van der Grinten, H L 2022, ' Treatment of congenital adrenal hyperplasia in children aged 0-3 years : A retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure ', European Journal of Endocrinology, vol. 187, no. 2, pp. 587-596 . https://doi.org/10.1530/EJE-21-1085
European Journal of Endocrinology, 187(2), 587-596. BioScientifica Ltd.
Neumann, U, van der Linde, A, Krone, R E, Krone, N P, Güven, A, Güran, T, Elsedfy, H, Poyrazoglu, S, Darendeliler, F, Bachega, T A S S, Balsamo, A, Hannema, S E, Birkebaek, N, Vieites, A, Thankamony, A, Cools, M, Milenkovic, T, Bonfig, W, Costa, E C, Atapattu, N, de Vries, L, Guaragna-Filho, G, Korbonits, M, Mohnike, K, Bryce, J, Ahmed, S F, Voet, B, Blankenstein, O & Claahsen-van der Grinten, H L 2022, ' Treatment of congenital adrenal hyperplasia in children aged 0-3 years : a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure ', European Journal of Endocrinology, vol. 186, no. 5, pp. 587-596 . https://doi.org/10.1530/EJE-21-1085
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 186(5), 587-596. Bioscientifica Ltd
European Journal of Endocrinology, 186, 587-596
European Journal of Endocrinology, 186, 5, pp. 587-596

Objectives International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed. Aim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441ad2130e4f0b1b276b3c55b7ed5d97
http://www.scopus.com/inward/record.url?scp=85128487416&partnerID=8YFLogxK

Effect of Busulfan and Treosulfan on Gonadal Function after Allogeneic Stem Cell Transplantation in Children and Adolescents with Nonmalignant Diseases Is Not Exposure-Dependent

Autor: M.Y. Eileen C. van der Stoep, Joëll E. Bense, Liselotte C. de Kloet, Erik G.J. von Asmuth, Anne P.J. de Pagter, Sabine E. Hannema, Henk-Jan Guchelaar, Juliette Zwaveling, Arjan C. Lankester

Publikováno v: van der Stoep, M Y E C, Bense, J E, de Kloet, L C, von Asmuth, E G J, de Pagter, A P J, Hannema, S E, Guchelaar, H-J, Zwaveling, J & Lankester, A C 2023, ' Effect of Busulfan and Treosulfan on Gonadal Function after Allogeneic Stem Cell Transplantation in Children and Adolescents with Nonmalignant Diseases Is Not Exposure-Dependent ', Transplantation and Cellular Therapy . https://doi.org/10.1016/j.jtct.2023.05.003, https://doi.org/10.1016/j.jtct.2023.05.003
Transplantation and Cellular Therapy. Elsevier BV

With an increasing number of young patients surviving into adulthood after hematopoietic stem cell transplantation (HSCT), gonadal dysfunction becomes an important late effect with significant impact on quality of life. In this retrospective study, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f3f3032caa702418817a83b99f2f0b
https://research.vumc.nl/en/publications/130b2f43-7959-439d-bf4f-a54f14da05c4

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia

Autor: S. F. Ahmed, Tatjana Milenkovic, Eduardo Corrêa Costa, Ruth Krone, Berenice B Mendonca, Niels H Birkebaek, Tania A. S. S. Bachega, Andrea Luczay, Irina-Alexandra Bacila, Martijn J J Finken, Sukran Poyrazoglu, Z. Yavas Abalı, Feyza Darendeliler, Tulay Guran, Eleni Daniel, H. J. van der Kamp, Márta Korbonits, Ajay Thankamony, Ana Vieites, Oliver Blankenstein, Heba Elsedfy, Antonio Balsamo, M. Sandrk, Nils Krone, N. Freeman, Jeremy W. Tomlinson, Klaus Mohnike, Corina Lichiardopol, H.L. Claahsen-van der Grinten, Martine Cools, Walter Bonfig, Salma R Ali, Mirela C Miranda, Rita Ortolano, L. de Vries, Navoda Atapattu, Sabine E. Hannema, Silvia Einaudi, Evelien F. Gevers, J. Bryce, Claire E Higham, Ayla Guven, Richard J. Ross, Violeta Iotova, Uta Neumann

Publikováno v: European Journal of Endocrinology, 184, 553-563
European Journal of Endocrinology, 184(4), 553-563. BioScientifica Ltd.
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-Van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
EUROPEAN JOURNAL OF ENDOCRINOLOGY
European Journal of Endocrinology, 184(4), 553-563. Bioscientifica Ltd
Bacila, I, Freeman, N, Daniel, E, Sandrk, M, Bryce, J, Ali, S R, Abali, Z Y, Atapattu, N, Bachega, T A, Balsamo, A, Birkebæk, N, Blankenstein, O, Bonfig, W, Cools, M, Costa, E C, Darendeliler, F, Einaudi, S, Elsedfy, H H, Finken, M J J, Gevers, E, Claahsen-van der Grinten, H L, Guran, T, Güven, A, Hannema, S E, Higham, C E, Iotova, V, van der Kamp, H J, Korbonits, M, Krone, R E, Lichiardopol, C, Luczay, A, Mendonca, B B, Milenkovic, T, Miranda, M C, Mohnike, K, Neumann, U, Ortolano, R, Poyrazoglu, S, Thankamony, A, Tomlinson, J W, Vieites, A, de Vries, L, Ahmed, S F, Ross, R J & Krone, N P 2021, ' International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia : Data from the I-CAH registry ', European Journal of Endocrinology, vol. 184, no. 4, pp. 553-563 . https://doi.org/10.1530/EJE-20-1249
European Journal of Endocrinology, 184, 4, pp. 553-563

Objective Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f9154fc2019becbacb0d0946a9859f2
https://doi.org/10.1530/EJE-20-1249