Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome

Autor: Gera Hoorweg-Nijman, Anita C. S. Hokken-Koelega, Martijn J. J. Finken, Mariette van Leeuwen, Stephany Donze, Gianni Bocca, Petr E. Jira, Janiëlle A E M van Alfen-van der Velden, Layla Damen

Publikováno v: Clinical Endocrinology, 91(1), 118-123. Wiley
Clinical Endocrinology, 91, 118-123
Clinical Endocrinology, 91, 1, pp. 118-123
Clinical Endocrinology, 91(1), 118-123. Wiley-Blackwell Publishing Ltd
Donze, S H, Damen, L, van Alfen-van der Velden, J A E M, Bocca, G, Finken, M J J, Hoorweg-Nijman, G J G, Jira, P E, van Leeuwen, M & Hokken-Koelega, A C S 2019, ' Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome ', Clinical Endocrinology, vol. 91, no. 1, pp. 118-123 . https://doi.org/10.1111/cen.13988
Clinical Endocrinology
Clinical Endocrinology, 91(1), 118-123. Wiley-Blackwell

OBJECTIVE: Some features of subjects with Prader-Willi syndrome (PWS) resemble those seen in growth hormone deficiency (GHD). Children with PWS are treated with growth hormone (GH), which has substantially changed their phenotype. Currently, young ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::552835ff4798d883669ccbafe26dea8a
https://hdl.handle.net/2066/204782

Design and evaluation of a clinical competency committee

Autor: Debbie Jaarsma, Cornelia R. M. G. Fluit, Marianne J. ten Kate-Booij, Marieke de Visser, Marrigje E. Duitsman, Diana H. J. M. Dolmans, Jacqueline de Graaf, Janiëlle A E M van Alfen-van der Velden

Publikováno v: Perspectives on medical education, 8(1), 1-8. SPRINGER
Perspectives on Medical Education, 8(1), 1-8. Bohn Stafleu van Loghum
Perspectives on Medical Education
Perspectives on Medical Education, 8, 1, pp. 1-8
Perspectives on Medical Education, 8(1), 1-8. Springer, Cham
Perspectives on Medical Education, 8, 1-8

Introduction In postgraduate medical education, group decision-making has emerged as an essential tool to evaluate the clinical progress of residents. Clinical competency committees (CCCs) have been set up to ensure informed decision-making and provi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b771af1993b9e47b358776b6d1caee31
https://pure.eur.nl/en/publications/642fb5e4-a43d-40f3-9213-a2eff9cd2030

Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary

Autor: Janiëlle A E M van Alfen-van der Velden, Sapthami Nadesapillai, Didi D.M. Braat, Guillaume van de Zande, Kathrin Fleischer, Ron Peek, Dominique Smeets

Publikováno v: Fertility and Sterility, 115, 1280-1287
Fertility and Sterility, 115, 5, pp. 1280-1287

Objective To report a case of a young girl initially diagnosed with exclusively 45,X Turner syndrome (TS), but with a cryptic mosaicism in the ovary. Design Case report. Setting Radboud University Medical Center in the Netherlands. Patient(s) A 14-ye

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d35b06fed382cc6812682c9f18a1c5b
https://doi.org/10.1016/j.fertnstert.2020.11.006

Congenital diaphragmatic hernia is associated with nonscrotal testes

Autor: Kim Heiwegen, Janiëlle A E M van Alfen-van der Velden, Iris A.L.M. van Rooij, Sanne M. B. I. Botden, Ivo de Blaauw, Stan Janssen

Publikováno v: Journal of Pediatric Surgery, 54, 3, pp. 445-448
Journal of Pediatric Surgery, 54, 445-448

Item does not contain fulltext BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare birth defect with a high mortality and morbidity. Nonscrotal testes (NST) are the most reported genital anomaly in boys. Both defects have known associated ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67bb85e173af741750795ca206cdd0b6
https://hdl.handle.net/2066/202643

Raising the Cut-Off Level of Anti-Tissue Transglutaminase Antibodies to Detect Celiac Disease Reduces the Number of Small Bowel Biopsies in Children with Type 1 Diabetes: A Retrospective Study

Autor: Gera Hoorweg-Nijman, Petra van Setten, Anouk Velthuis, Ineke de Kruijff, Margreet Wessels, Eline Duijndam, Dick Mul, Ellen G van Lochem, Jan Alle Bokma, Janiëlle A E M van Alfen-van der Velden, Jos W. R. Meijer, M. Luisa Mearin, Eveline Berghout, Lian Roovers, Victorien M. Wolters

Publikováno v: Journal of Pediatrics, 223, 87-+. MOSBY-ELSEVIER
Journal of Pediatrics, 223, pp. 87-92.e1
Journal of Pediatrics, 223, 87-92.e1

Objective To study the optimal cut-off value for anti-tissue transglutaminase type 2 IgA antibodies (TG2A) in serum to select for diagnostic small bowel biopsies for celiac disease in children with type 1 diabetes mellitus. Study design Children with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b056099fb0baee6efe6e2f78d0a0a11a
https://doi.org/10.1016/j.jpeds.2020.02.086