Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Autor: Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)

Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mut

Externí odkaz: https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

Quality of Active versus Spontaneous Reporting of Adverse Drug Reactions in Pediatric Patients: Relevance for Pharmacovigilance and Knowledge in Pediatric Medical Care

Autor: Anne T. M. Dittrich, Nori J. L. Smeets, Emma F. M. de Jong, Juliët L. Kämink, Yvet Kroeze, Jos M. Th. Draaisma, Eugène P. van Puijenbroek, D. Maroeska W. M. te Loo

Publikováno v: Pharmaceuticals, Vol 15, Iss 9, p 1148 (2022)

For drug safety in pediatric patients, knowledge about adverse drug reactions (ADRs) is essential to balance benefits and risks, especially because of the high incidence of off-label drug use. However, underreporting of ADRs is a serious problem, lea

Externí odkaz: https://doaj.org/article/148aef8c56994023940649287268e2a6

Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma

Autor: Carlien A. M. Bennebroek, Judith van Zwol, Giorgio L. Porro, Rianne Oostenbrink, Anne T. M. Dittrich, Annabel L. W. Groot, Jan W. Pott, Etienne J. M. Janssen, Noël J. Bauer, Maria M. van Genderen, Peerooz Saeed, Maarten H. Lequin, Pim de Graaf, Antoinette Y. N. Schouten-van Meeteren

Publikováno v: Bennebroek, C A M, van Zwol, J, Porro, G L, Oostenbrink, R, Dittrich, A T M, Groot, A L W, Pott, J W, Janssen, E J M, Bauer, N J, van Genderen, M M, Saeed, P, Lequin, M H, de Graaf, P & Schouten-van Meeteren, A Y N 2022, ' Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma : A Retrospective Nationwide Multicentre Study ', Cancers, vol. 14, no. 24, 6087 . https://doi.org/10.3390/cancers14246087
Cancers, 14(24):6087. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers, 14
Cancers; Volume 14; Issue 24; Pages: 6087
Cancers, 14(24):6087. MDPI AG
Cancers, 14, 24

BACKGROUNDS: Bevacizumab (BVZ) is used as a subsequent line of treatment for pediatric optic pathway glioma (OPG) in the case of progression. Data on the treatment effect concerning tumor progression and visual function are scarce and nationwide stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279a465d631dfadd7e4b6d260be82867
http://www.scopus.com/inward/record.url?scp=85144999952&partnerID=8YFLogxK

Screening for osteoporosis in pediatric patients with Glass syndrome is strongly recommended

Autor: Anne T. M. Dittrich, Jos M. T. Draaisma

Publikováno v: Bone Reports, Vol 14, Iss, Pp 100991-(2021)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aefba7a1f47228dacb552fae670929bb
http://www.sciencedirect.com/science/article/pii/S2352187221002461

CONGENITAL MUSCULAR DYSTROPHIES

Autor: Corrie E. Erasmus, Jan T. Groothuis, Robin Nijveldt, Anne T. M. Dittrich, E. van Kleef, B.G.M. van Engelen, Mirian C. H. Janssen, Karlijn Bouman, E. Kamsteeg, F. van Tienen, Jonne Doorduin, Stan Buckens, H. J. M. Smeets, Jan A.M. Smeitink, F. Udink ten Cate, Jos M. T. Draaisma, F. van den Heuvel, Nicol C. Voermans, W. van Tilburg, N. van Alfen

Publikováno v: Neuromuscular Disorders. 31:S70

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98e1f1047360b0e7901246171ae6e03d
https://doi.org/10.1016/j.nmd.2021.07.094