An observational study on survival rates of patients with out-of-hospital cardiac arrest in the Netherlands after improving the ‘chain of survival’

Autor: Nicolas Peschanski, Matthijs de Visser, Jan Bosch, Marianne Bootsma, Suzanne Cannegieter, Annemarie van Dijk, Christian Heringhaus, Jan de Nooij, Nienke Terpstra, Koos Burggraaf

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

Objectives To evaluate the impact of implemented procedures for out-of-hospital cardiac arrests (OHCAs) by determining patient outcome defined as the percentage return of spontaneous circulation at arrival at the emergency department, and 3-month and

Externí odkaz: https://doaj.org/article/a721a8e7a8b848349205524f7b04bbad

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Autor: Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder

Publikováno v: Human Molecular Genetics, 32(7), 1072-1082. Oxford University Press
Human molecular genetics, 32(7), 1072-1082. Oxford University Press
Copier, J S, Bootsma, M, Ng, C A, Wilde, A A M, Bertels, R A, Bikker, H, Christiaans, I, van der Crabben, S N, Hol, J A, Koopmann, T T, Knijnenburg, J, Lommerse, A A J, van der Smagt, J J, Bezzina, C R, Vandenberg, J I, Verkerk, A O, Barge-Schaapveld, D Q C M & Lodder, E M 2023, ' Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance ', Human Molecular Genetics, vol. 32, no. 7, pp. 1072-1082 . https://doi.org/10.1093/hmg/ddac261

Background: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519654e8bc20f7975db9d699d619b260
https://research.vumc.nl/en/publications/9b00c3f8-9873-42ac-bfb9-46f0292eee55

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (

Autor: Edgar T, Hoorntje, Charlotte, Burns, Luisa, Marsili, Ben, Corden, Victoria N, Parikh, Gerard J, Te Meerman, Belinda, Gray, Ahmet, Adiyaman, Richard D, Bagnall, Daniela Q C M, Barge-Schaapveld, Maarten P, van den Berg, Marianne, Bootsma, Laurens P, Bosman, Gemma, Correnti, Johan, Duflou, Ruben N, Eppinga, Diane, Fatkin, Michael, Fietz, Eric, Haan, Jan D H, Jongbloed, Arnaud D, Hauer, Lien, Lam, Freyja H M, van Lint, Amrit, Lota, Carlo, Marcelis, Hugh J, McCarthy, Anneke M, van Mil, Rogier A, Oldenburg, Nicholas, Pachter, R Nils, Planken, Chloe, Reuter, Christopher, Semsarian, Jasper J, van der Smagt, Tina, Thompson, Jitendra, Vohra, Paul G A, Volders, Jaap I, van Waning, Nicola, Whiffin, Arthur, van den Wijngaard, Ahmad S, Amin, Arthur A M, Wilde, Gijs, van Woerden, Laura, Yeates, Dominica, Zentner, Euan A, Ashley, Matthew T, Wheeler, James S, Ware, J Peter, van Tintelen, Jodie, Ingles

Publikováno v: Circulation. Genomic and precision medicine.

Truncating variants in desmoplakin (Individuals withThere were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with aIn the largest series of individuals with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7142023d0a2271d92d9519c93025ddd3
https://pubmed.ncbi.nlm.nih.gov/36580316

Left atrioventricular coupling index in hypertrophic cardiomyopathy and risk of new-onset atrial fibrillation

Autor: Maria Chiara Meucci, Federico Fortuni, Xavier Galloo, Marianne Bootsma, Filippo Crea, Jeroen J. Bax, Nina Ajmone Marsan, Victoria Delgado

Publikováno v: International Journal of Cardiology, 363, 87-93. ELSEVIER IRELAND LTD
International Journal of Cardiology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

Funding Acknowledgements Type of funding sources: None. Background In patients with hypertrophic cardiomyopathy (HCM) accurate risk stratification for new onset atrial fibrillation (AF) has important prognostic implications. Left atrioventricular cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05dc997fe014244228061f046786d890
http://hdl.handle.net/1887/3567721

Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Autor: Maria Chiara Meucci, Rosa Lillo, Antonella Lombardo, Gaetano A Lanza, Marianne Bootsma, Steele C Butcher, Massimo Massetti, Raffaele Manna, Jeroen J Bax, Filippo Crea, Nina Ajmone Marsan, Francesca Graziani

Publikováno v: European Heart Journal-Cardiovascular Imaging. OXFORD UNIV PRESS
European Heart Journal-Cardiovascular Imaging

Aims To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease. Methods and results Patients wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05aadc35bbaabaa4d3cdb84367404b4
https://pubmed.ncbi.nlm.nih.gov/35900225