Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN): study protocol for a placebo-controlled randomized double-blind trial

Autor: S. Voigt, E. A. Koemans, I. Rasing, E. S. van Etten, G. M. Terwindt, F. Baas, K. Kaushik, A. C. G. M. van Es, M. A. van Buchem, M. J. P. van Osch, M. A. A. van Walderveen, C. J. M. Klijn, M. M. Verbeek, L. van der Weerd, M. J. H. Wermer

Publikováno v: Trials, Vol 24, Iss 1, Pp 1-6 (2023)

Abstract Background Cerebral amyloid angiopathy (CAA) is a disease caused by the accumulation of the amyloid-beta protein and is a major cause of intracerebral hemorrhage (ICH) and vascular dementia in the elderly. The presence of the amyloid-beta pr

Externí odkaz: https://doaj.org/article/aea914d44b86478b88e22d6bbf1175f2

Automatic multilabel detection of ICD10 codes in Dutch cardiology discharge letters using neural networks

Autor: Arjan Sammani, Ayoub Bagheri, Peter G. M. van der Heijden, Anneline S. J. M. te Riele, Annette F. Baas, C. A. J. Oosters, Daniel Oberski, Folkert W. Asselbergs

Publikováno v: npj Digital Medicine, Vol 4, Iss 1, Pp 1-10 (2021)

Abstract Standard reference terminology of diagnoses and risk factors is crucial for billing, epidemiological studies, and inter/intranational comparisons of diseases. The International Classification of Disease (ICD) is a standardized and widely use

Externí odkaz: https://doaj.org/article/0f7e2a6ca61e4c53a1d2909562865f85

Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy

Autor: Steven A. Muller, Alessio Gasperetti, Laurens P. Bosman, Amand F. Schmidt, Annette F. Baas, Ahmad S. Amin, Arjan C. Houweling, Arthur A.M. Wilde, Paolo Compagnucci, Mattia Targetti, Michela Casella, Leonardo Calò, Claudio Tondo, Pim van der Harst, Folkert W. Asselbergs, J. Peter van Tintelen, Marish I.F.J. Oerlemans, Anneline S.J.M. Te Riele

Publikováno v: Muller, S A, Gasperetti, A, Bosman, L P, Schmidt, A F, Baas, A F, Amin, A S, Houweling, A C, Wilde, A A M, Compagnucci, P, Targetti, M, Casella, M, Calò, L, Tondo, C, van der Harst, P, Asselbergs, F W, van Tintelen, J P, Oerlemans, M I F J & te Riele, A S J M 2023, ' Individualized Family Screening for Arrhythmogenic Right Ventricular Cardiomyopathy ', Journal of the American College of Cardiology, vol. 82, no. 3, pp. 214-225 . https://doi.org/10.1016/j.jacc.2023.05.005

Background: Clinical guidelines recommend regular screening for arrhythmogenic right ventricular cardiomyopathy (ARVC) to monitor at-risk relatives, resulting in a significant burden on clinical resources. Prioritizing relatives on their probability

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a3a6c4d50d4019c6c8af625c973480
https://doi.org/10.1016/j.jacc.2023.05.005

A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial

Autor: J Peter van Tintelen, Imke Christiaans, Lieke M van den Heuvel, Yvonne M Hoedemaekers, Annette F Baas, Ellen M A Smets

Publikováno v: BMJ Open, Vol 9, Iss 7 (2019)

Introduction In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of genetic

Externí odkaz: https://doaj.org/article/28b47ad61ecf4d37ae76a46690eba056

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

Autor: Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas

Publikováno v: International journal of molecular sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 24(4):4031. MDPI AG
International Journal of Molecular Sciences, 24(4):4031. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4031
International Journal of Molecular Sciences, 24, 4
International Journal of Molecular Sciences, 24
Jansen, M, Schuldt, M, van Driel, B O, Schmidt, A F, Christiaans, I, van der Crabben, S N, Hoedemaekers, Y M, Dooijes, D, Jongbloed, J D H, Boven, L G, Deprez, R H L, Wilde, A A M, Jans, J J M, van der Velden, J, de Boer, R A, van Tintelen, J P, Asselbergs, F W & Baas, A F 2023, ' Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants ', International Journal of Molecular Sciences, vol. 24, no. 4, 4031 . https://doi.org/10.3390/ijms24044031

Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d72bb1c895193fff307bea1dc49f526e
https://pure.amc.nl/en/publications/untargeted-metabolomics-identifies-potential-hypertrophic-cardiomyopathy-biomarkers-in-carriers-of-mybpc3-founder-variants(d14b78ac-9af3-4c14-8c03-92cca76f9660).html