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Your search keyword '"H. J. van der Kamp"' showing total 3 results
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3 results on '"H. J. van der Kamp"'

1. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia

Author

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, Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), and Pediatrics

Subjects
Male, Pediatrics, Hydrocortisone, Endocrinology, Diabetes and Metabolism, CHILDREN, 0302 clinical medicine, Endocrinology, INSUFFICIENCY, Interquartile range, Adrenal Cortex Hormones, Medicine and Health Sciences, Practice Patterns, Physicians'/statistics & numerical data, Registries, Practice Patterns, Physicians', Hydrocortisone/administration & dosage, Child, Age Factors, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], General Medicine, Diabetes and Metabolism, Hormone Replacement Therapy/methods, Transgender hormone therapy, 030220 oncology & carcinogenesis, Fludrocortisone, Child, Preschool, INFANCY, Corticosteroid, GROWTH, Female, Glucocorticoid, medicine.drug, medicine.medical_specialty, Fludrocortisone/administration & dosage, Adolescent, medicine.drug_class, Hormone Replacement Therapy, DISORDERS, 030209 endocrinology & metabolism, 21-HYDROXYLASE DEFICIENCY, 03 medical and health sciences, Adrenal Cortex Hormones/administration & dosage, SDG 3 - Good Health and Well-being, Internal medicine, medicine, MANAGEMENT, Humans, Congenital adrenal hyperplasia, Glucocorticoids, Retrospective Studies, Adrenal Hyperplasia, Congenital, business.industry, CORTISOL, HYDROCORTISONE, Infant, Newborn, Infant, Glucocorticoids/administration & dosage, VELOCITY, medicine.disease, Mineralocorticoid, business, Adrenal Hyperplasia, Congenital/drug therapy
Abstract

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 CAH. Design This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. Methods Data were collected from 461 patients aged 0–18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0–14.5) mg/m2/day at age 1–8 years and the highest dose of 14.0 (11.6–17.4) mg/m2/day at age 12–18 years. Glucocorticoid doses decreased after 2010 in patients 0–8 years (P < 0.001) and remained unchanged in patients aged 8–18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

Published
2021
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2. ANALYSIS OF THERAPY MONITORING IN THE INTERNATIONAL CONGENITAL ADRENAL HYPERPLASIA REGISTRY

Author

N Lawrence, I Bacila, J Dawson, J Bryce, E Lt Van Den Akker, T Bachega, F Baronio, N Birkebaek, W Bonfig, H Claahsen, L Devries, H Elsedfy, A Guvan, S Hannema, V Iotova, H J Van Der Kamp, Leon, Clemente, Lichiardopol, Raducanu, T Milenkovic, U Neumann, A Nordenstr��m, S Poyrazoglu, U Probst-Scheidegger, L De Sanctis, A Vieites, Z Yavas, S F Ahmed, and N Krone

Published
2021
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3. A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor

Author

H. J. van der Kamp, M.J.E. Walenkamp, Alberto M. Pereira, Johannes A. Romijn, Marcel Karperien, J.M. Wit, Sarina G. Kant, Martijn H. Breuning, M. F. Kruithof, H.A. van Duyvenvoorde, and Other departments

Subjects
Adult, Heterozygote, medicine.medical_specialty, Microcephaly, DNA, Complementary, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Mutation, Missense, Glutamic Acid, Context (language use), Biology, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, Receptor, IGF Type 1, Endocrinology, Bone Density, Internal medicine, medicine, Humans, Missense mutation, Insulin-Like Growth Factor I, Phosphorylation, Growth Disorders, Insulin-like growth factor 1 receptor, Mutation, Fetal Growth Retardation, Base Sequence, Lysine, Biochemistry (medical), Autophosphorylation, Infant, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Body Height, Failure to Thrive, body regions, Failure to thrive, Severe intrauterine growth retardation, Female, medicine.symptom, Signal Transduction
Abstract

The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling. The objective of this study was to evaluate the functional characteristics of a novel IGF1R mutation and describe the phenotypic features of two patients with this mutation. The study was performed in a university hospital. We describe a 35-yr-old female with mild intrauterine growth failure, progressive postnatal growth retardation, severe failure to thrive, and microcephaly. Her daughter was born with severe intrauterine growth retardation and also showed postnatal failure to thrive and microcephaly. We found a heterozygous G3148-->A nucleotide substitution in the IGF1R gene, changing a negatively charged glutamic acid at position 1050 into a positively charged lysine residue (E1050K). E1050 is a conserved residue in the intracellular kinase domain. Dermal fibroblasts of the mother showed normal binding of iodinated IGF-I, but autophosphorylation and activation of downstream signaling cascades upon challenging with IGF-I was markedly reduced. Consequently, the maximal [(3)H]thymidine incorporation upon challenge with a dose range of IGF-I was reduced compared with a panel of control cells (3.65 +/- 1.79-fold vs. 6.75 +/- 4.7-fold stimulation; P

Published
2006
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