Acute stress response of the HPA-axis in children with Prader-Willi syndrome: new insights and consequences for clinical practice

Autor: Lionne N. Grootjen, Gerthe F. Kerkhof, Alicia F. Juriaans, Demi J. Trueba-Timmermans, Anita C. S. Hokken-Koelega

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

BackgroundPrader-Willi syndrome (PWS) is associated with hypothalamic dysfunction. It has been reported that the HPA axis might show a delayed response during acute stress, and it is unknown whether the response of the HPA-axis during acute stress ch

Externí odkaz: https://doaj.org/article/ace4aab8ebde4b8fa053c57f8910ef45

The effects of five years of growth hormone treatment on growth and body composition in patients with Temple syndrome

Autor: Alicia F. Juriaans, Demi J. Trueba-Timmermans, Gerthe F. Kerkhof, Lionne N. Grootjen, Sylvia Walet, Theo C.J. Sas, Joost Rotteveel, Nitash Zwaveling-Soonawala, Annemarie A. Verrijn Stuart, Anita C.S. Hokken-Koelega

Publikováno v: Hormone Research in Paediatrics.

Introduction: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32.2 or an isolated methylation defect. Most patients with TS14 develop precocious puberty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf3916cf7a36a0ef75aff13366e59eb
https://doi.org/10.1159/000530420

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Autor: Alicia F. Juriaans, Gerthe F. Kerkhof, Eva F. Mahabier, Theo C. J. Sas, Nitash Zwaveling-Soonawala, Robbert N. H. Touwslager, Joost Rotteveel, Anita C. S. Hokken-Koelega

Publikováno v: Journal of Clinical Medicine, 11(21):6289. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of clinical medicine, 11(21):6289. Multidisciplinary Digital Publishing Institute (MDPI)
Juriaans, A F, Kerkhof, G F, Mahabier, E F, Sas, T C J, Zwaveling-Soonawala, N, Touwslager, R N H, Rotteveel, J & Hokken-Koelega, A C S 2022, ' Temple Syndrome : Clinical Findings, Body Composition and Cognition in 15 Patients ', Clinical Chemistry, vol. 11, no. 21, 6289 . https://doi.org/10.3390/jcm11216289
Journal of Clinical Medicine; Volume 11; Issue 21; Pages: 6289
Clinical Chemistry, 11(21):6289

Background: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. Studies on phenotypical characteristics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a73c4166a09113b7e7891911ede9805
https://pure.eur.nl/en/publications/a30c4368-4e2e-4e9d-aeec-0d4d3827b5b3

Effects of 8 years of growth hormone treatment on scoliosis in children with Prader–Willi syndrome

Autor: Joost P H J Rutges, Gerthe F. Kerkhof, Stephany Donze, Layla Damen, Alicia F Juriaans, Anita C. S. Hokken-Koelega, Lionne N Grootjen

Publikováno v: European Journal of Endocrinology, 185(1), 47-55. Bioscientifica Ltd

Objective Scoliosis is frequently seen in children with Prader–Willi syndrome (PWS). There is still concern that growth hormone (GH) treatment might increase the risk of onset or progression of scoliosis. Short-term data suggested no adverse effect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475eb380fda43b14454105acdc3b9283
https://doi.org/10.1530/eje-21-0211

Longitudinal human milk macronutrients, body composition and infant appetite during early life

Autor: Inge A L P van Beijsterveldt, Marieke Abrahamse-Berkeveld, Bert J. M. van de Heijning, Kirsten S. de Fluiter, Anita C. S. Hokken-Koelega, Laura M Breij, Gerthe F. Kerkhof

Publikováno v: Clinical Nutrition, 40(5), 3401-3408. Churchill Livingstone

Summary Background & aims Breastfeeding is the gold standard infant feeding. Data on macronutrients in relation to longitudinal body composition and appetite are very scarce. The aim of this study was to investigate longitudinal human milk macronutri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d781b9e1242ebe6e721fe081d07ae5c6
http://www.scopus.com/inward/record.url?scp=85097783321&partnerID=8YFLogxK