Search Results - "OOSTDIJK, W"

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management by Joustra, S. D, Heinen, C. A, Schoenmakers, N, Bonomi, M, Ballieux, B. E. P. B, Turgeon, M.-O, Bernard, D. J, Fliers, E, van Trotsenburg, A. S. P, Losekoot, M, Persani, L, Wit, J. M, Biermasz, N. R, Pereira, A. M, Oostdijk, W

“…Context: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause the X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism,…”
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Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects by Bakker, N. E, Kuppens, R. J, Siemensma, E. P. C, Tummers-de Lind van Wijngaarden, R. F. A, Festen, D. A. M, Bindels-de Heus, G. C. B, Bocca, G, Haring, D. A. J. P, Hoorweg-Nijman, J. J. G, Houdijk, E. C. A. M, Jira, P. E, Lunshof, L, Odink, R. J, Oostdijk, W, Rotteveel, J, Schroor, E. J, Van Alfen, A. A. E. M, Van Leeuwen, M, Van Pinxteren-Nagler, E, Van Wieringen, H, Vreuls, R. C. F. M, Zwaveling-Soonawala, N, de Ridder, M. A. J, Hokken-Koelega, A. C. S

“…Background: The most important reason for treating children with Prader-Willi syndrome (PWS) with GH is to optimize their body composition. Objectives: The aim…”
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The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients by Joustra, S. D, Schoenmakers, N, Persani, L, Campi, I, Bonomi, M, Radetti, G, Beck-Peccoz, P, Zhu, H, Davis, T. M. E, Sun, Y, Corssmit, E. P, Appelman-Dijkstra, N. M, Heinen, C. A, Pereira, A. M, Varewijck, A. J, Janssen, J. A. M. J. L, Endert, E, Hennekam, R. C, Lombardi, M. P, Mannens, M. M. A. M, Bak, B, Bernard, D. J, Breuning, M. H, Chatterjee, K, Dattani, M. T, Oostdijk, W, Biermasz, N. R, Wit, J. M, van Trotsenburg, A. S. P

“…Context: Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism…”
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IGF-1 and IGF-1 SDS – fit for purpose? by Kos, S, Cobbaert, C M, Kuijper, T M, Oostdijk, W, Hannema, S E, Wit, J M, Biermasz, N, Ballieux, B E P B

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Bone Mineral Density in Children and Adolescents With Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment by Bakker, N. E, Kuppens, R. J, Siemensma, E. P. C, Tummers-de Lind van Wijngaarden, R. F. A, Festen, D. A. M, Bindels-de Heus, G. C. B, Bocca, G, Haring, D. A. J. P, Hoorweg-Nijman, J. J. G, Houdijk, E. C. A. M, Jira, P. E, Lunshof, L, Odink, R. J, Oostdijk, W, Rotteveel, J, Van Alfen, A. A. E. M, Van Leeuwen, M, Van Wieringen, H, Wegdam-den Boer, M. E. J, Zwaveling-Soonawala, N, Hokken-Koelega, A. C. S

“…Context: Longitudinal data on bone mineral density (BMD) in children and adolescents with Prader-Willi Syndrome (PWS) during long-term GH treatment are not…”
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Inhibition of Gsk3β in cartilage induces osteoarthritic features through activation of the canonical Wnt signaling pathway by Miclea, R.L, Siebelt, M, Finos, L, Goeman, J.J, Löwik, C.W.G.M, Oostdijk, W, Weinans, H, Wit, J.M, Robanus-Maandag, E.C, Karperien, M

“…Summary Objective In the past years, the canonical Wnt/β-catenin signaling pathway has emerged as a critical regulator of cartilage development and…”
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Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome by Joustra, S.D., Andela, C.D., Oostdijk, W., van Trotsenburg, A.S.P., Fliers, E., Wit, J.M., Pereira, A.M., Middelkoop, H.A.M., Biermasz, N.R.

“…Summary Objective Male patients with the X‐linked IGSF1 deficiency syndrome are characterized by central hypothyroidism, delayed pubertal testosterone rise,…”
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The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects by Donze, S H, Meijer, C R, Kant, S G, Zandwijken, G R J, van der Hout, A H, van Spaendonk, R M L, van den Ouweland, A M W, Wit, J M, Losekoot, M, Oostdijk, W

“…ObjectiveShort stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered…”
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Management and consequences of postoperative fluctuations in plasma sodium concentration after pediatric brain tumor surgery in the sellar region: a national cohort analysis by Kruis, R. W. J., Schouten-van Meeteren, A. Y. N., Finken, M. J. J., Oostdijk, W., van Trotsenburg, A. S. P., Boot, A. M., Claahsen-van der Grinten, H. L., van Lindert, E. J., Han, K. S., Hoving, E. W., Michiels, E. M. C., van Santen, H. M.

“…Purpose Severe fluctuations in plasma sodium concentration and plasma osmolarity, including central diabetes insipidus (CDI), may have significant influence on…”
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New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trial by Renes, J.S., Willemsen, R.H., Mulder, J.C., Bakker-van Waarde, W.M., Rotteveel, J., Oostdijk, W., Houdijk, E.C.A.M., Westerlaken, C., Noordam, C., Verrijn Stuart, A.A., Odink, R.J., de Ridder, M.A.J., Hokken-Koelega, A.C.S.

“…Summary Background Growth hormone (GH) treatment is effective in improving adult height (AH) in short children born SGA. However, there is a wide variation in…”
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Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene by van Duyvenvoorde, H. A, van Setten, P. A, Walenkamp, M. J. E, van Doorn, J, Koenig, J, Gauguin, L, Oostdijk, W, Ruivenkamp, C. A. L, Losekoot, M, Wade, J. D, De Meyts, P, Karperien, M, Noordam, C, Wit, J. M

“…Context: Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I…”
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High burden of late effects after haematopoietic stem cell transplantation in childhood: a single-centre study by Bresters, D, van Gils, I C M, Kollen, W J W, Ball, L M, Oostdijk, W, van der Bom, J G, Egeler, R M

“…The aim of our study was to assess the cumulative incidence and severity (‘burden’) of late effects in a single-centre cohort of childhood haematopoietic stem…”
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Pubertal development in The Netherlands 1965-1997 by MUL, Dick, FREDRIKS, A. Miranda, VAN BUUREN, Stef, OOSTDIJK, Wilma, VERLOOVE-VANHORICK, S. Pauline, WIT, Jan Maarten

“…We investigated pubertal development of 4019 boys and 3562 girls >8 y of age participating in a cross-sectional survey in The Netherlands and compared the…”
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Developing evidence-based guidelines for referral for short stature by Grote, F K, van Dommelen, P, Oostdijk, W, de Muinck Keizer-Schrama, S M P F, Verkerk, P H, Wit, J M, van Buuren, S

“…Objective:To establish evidence-based guidelines for growth monitoring on a population basis.Study design:Several auxological referral criteria were formulated…”
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Genetic analysis of short children with apparent growth hormone insensitivity by Wit, J M, van Duyvenvoorde, H A, Scheltinga, S A, de Bruin, S, Hafkenscheid, L, Kant, S G, Ruivenkamp, C A L, Gijsbers, A C J, van Doorn, J, Feigerlova, E, Noordam, C, Walenkamp, M J, Claahsen-van de Grinten, H, Stouthart, P, Bonapart, I E, Pereira, A M, Gosen, J, Delemarre-van de Waal, H A, Hwa, V, Breuning, M H, Domené, H M, Oostdijk, W, Losekoot, M

“…In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing…”
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High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height by van Gool, S A, Kamp, G A, Odink, R J, de Muinck Keizer-Schrama, S M P F, Delemarre-van de Waal, H A, Oostdijk, W, Wit, J M

“…ObjectiveTo assess the long-term effect of prepubertal high-dose GH treatment on growth in children with idiopathic short stature (ISS).Design and methodsForty…”
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A mosaic de novo duplication of 17q21–25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation by Mul, D, Wu, S, de Paus, R A, Oostdijk, W, Lankester, A C, Duyvenvoorde, H A van, Ruivenkamp, C A L, Losekoot, M, Tol, M J D van, De Luca, F, van de Vosse, E, Wit, J M

“…ObjectiveThe established causes of GH insensitivity include defects of the GH receptor and STAT5B. The latter condition is also characterized by severe…”
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Pseudoisodicentric Xp chromosome [46,X,psu idic(X)(q21.1)] and its effect on growth and pubertal development by van der Kamp, H J, Kant, S G, Ruivenkamp, C A L, Gijsbers, A C J, Haring, D, Oostdijk, W

“…Most isodicentric (Xp) and (Xq) chromosomes occur as a mosaic with a 45,X cell line. Patients with a nonmosaic 46,X,idic(Xq) are rare. The first girl was…”
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Disturbances of growth and endocrine function after busulphan-based conditioning for haematopoietic stem cell transplantation during infancy and childhood by BAKKER, B, OOSTDIJK, W, BRESTERS, D, WALENKAMP, M. J. E, VOSSEN, J. M, WIT, J. M

“…It is generally assumed that busulphan/cyclophoshamide (Bu/Cy)-based conditioning regimens for haematopoietic stem cell transplantation (SCT) do not affect…”
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Short stature and the probability of coeliac disease, in the absence of gastrointestinal symptoms by van Rijn, J C W, Grote, F K, Oostdijk, W, Wit, JM

“…Citation, country Study group Study type (level of evidence) Outcome Key results Comments Knudtzon et al (1991), Norway 1 168 children (50 girls; 93 boys; age…”
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