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

Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient

Autor: Birgitta K. Velthuis, Arco J. Teske, Dennis Bosboom, Reinder Evertz, Rob W Roudijk, Floris E A Udink Ten Cate, Carlo Marcelis, Anneline S.J.M. te Riele

Publikováno v: JACC Case Reports
JACC: Case Reports, Vol 2, Iss 6, Pp 919-924 (2020)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rarely diagnosed in childhood. We describe the case of a 9-year-old girl with genetically confirmed ARVC who presented with syncope, ventricular arrhythmia, and biventricular myocardial dysfun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b93469ce060530dcfb6edccf2aec8f
https://doi.org/10.1016/j.jaccas.2020.01.006

Emerging clinical applications of strain imaging and three-dimensional echocardiography for the assessment of ventricular function in adult congenital heart disease

Autor: Narayanswami Sreeram, Ingo Germund, Lianne M. Geerdink, Floris E A Udink Ten Cate, Michael Huntgeburth

Publikováno v: Cardiovascular Diagnosis and Therapy, 9, Suppl 2, pp. S326-s345
Cardiovascular Diagnosis and Therapy, 9, S326-S345. AME Publishing Company
Cardiovascular Diagnosis and Therapy, 9, S326-s345

Contains fulltext : 215790.pdf (Publisher’s version ) (Open Access) Management of congenital heart disease (CHD) in adults (ACHD) remains an ongoing challenge due to the presence of residual hemodynamic lesions and development of ventricular dysfun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b37b5e758924df0a920d21ef4ac924
https://pure.eur.nl/en/publications/f0de4942-fd48-4ad2-9e8f-952c12bd5cea

Imaging the Lymphatic System in Fontan Patients

Autor: Floris E A, Udink Ten Cate, Eric T T L, Tjwa

Publikováno v: Circulation. Cardiovascular imaging. 12(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::17a7fa3cd696e2965f951bd81eac2309
https://pubmed.ncbi.nlm.nih.gov/30943769

Stenting the arterial duct in neonates and infants with congenital heart disease and duct-dependent pulmonary blood flow: a multicenter experience of an evolving therapy over 18 years

Autor: Floris E A, Udink Ten Cate, Narayanswami, Sreeram, Hala, Hamza, Hala, Agha, Eric, Rosenthal, Shakeel A, Qureshi

Publikováno v: Catheterization and cardiovascular interventions : official journal of the Society for Cardiac AngiographyInterventions. 82(3)

The primary aim of this multi-institutional study was to describe our 18-year experience of ductal stenting (DS) in infants with a duct-dependent pulmonary circulation. The secondary aim sought to identify a subgroup of patients who may benefit the m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0bb0d83eefcf1db1d99fe8d73f3513a4
https://pubmed.ncbi.nlm.nih.gov/23420699