Zobrazeno 1 - 10
of 13
pro vyhledávání: '"James S. Ware"'
Autor:
Inga Voges, Amrit Lota, Resham Baruah, Paul J.R. Barton, James S. Ware, John Gregson, Sanjay K Prasad, Nicola Whiffin, Brian P Halliday, Julian W.E. Jarman, Dudley J. Pennell, Angharad M. Roberts, Michael P. Frenneaux, A. John Baksi, Rachel Buchan, Upasana Tayal, Stuart A. Cook, John G.F. Cleland
Publikováno v:
Heart. 108:619-625
ObjectiveThe effect of moderate excess alcohol consumption is widely debated and has not been well defined in dilated cardiomyopathy (DCM). There is need for a greater evidence base to help advise patients. We sought to evaluate the effect of moderat
Autor:
Antonis Pantazis, Stuart A. Cook, Brian P Halliday, Simon Newsome, John G.F. Cleland, Rebecca Wassall, James S. Ware, Amrit Lota, John Baksi, Florence Mouy, Dudley J. Pennell, Sanjay K Prasad
Publikováno v:
Heart. 103:A96-A97
Background Hypertrophic cardiomyopathy (HCM) is characterised by increased left ventricular wall thickness leading to exercise intolerance and heart failure. Peak oxygen consumption (peak VO2) on cardiopulmonary exercise testing (CPET) is often used
Publikováno v:
Heart. 98:276-281
The fast moving field of genomic medicine is already impacting on clinical care and cardiologists are fortunate to be in a position to benefit early from the transformative advances in genomics. However, the challenges associated with genomics in the
Autor:
Rachel Buchan, Nicola Whiffin, Francesco Mazzarotto, Upasana Tayal, Stuart A. Cook, Simon Newsome, Roddy Walsh, James S. Ware, Sanjay K Prasad
Publikováno v:
Heart. 102:A102-A103
Background The clinical course of dilated cardiomyopathy (DCM) is variable: while 20% of patients die within 5 years of diagnosis, up to 15% recover fully. DNA variants that truncate the sarcomeric protein titin (TTNtv) are found in up to 20% of DCM.
Autor:
Francesco Mazzarotto, Upasana Tayal, Simon Newsome, Nicola Whiffin, James S. Ware, Rachel Buchan, Stuart A. Cook, Roddy Walsh, Sanjay K Prasad
Publikováno v:
Heart. 102:A103-A104
Background Up to fifty percent of idiopathic dilated cardiomyopathy (DCM) has a familial basis. Variants can occur in over 40 genes, though truncating variants in the sarcomeric gene titin account for the largest proportion (~20%). At least half of f
Autor:
Simon Newsome, Upasana Tayal, Sanjay K Prasad, Nicola Whiffin, Roddy Walsh, Rachel Buchan, Stuart A. Cook, James S. Ware, Paul J.R. Barton
Publikováno v:
Heart. 103:A95.1-A95
Background Titin truncating variants (TTNtv), found in~10%–20% of dilated cardiomyopathy (DCM), are notable for variable penetrance and expressivity. We evaluated whether TTNtv DCM patients had distinct phenotypic features, which may influence dise
Autor:
Sanjay K Prasad, Cemil Izgi, James S. Ware, Dudley J. Pennell, Rachel Buchan, Inga Voges, N Whiffin, Resham Baruah, P.J. Barton, Amrit Lota, Stuart A. Cook, Michael P. Frenneaux, Upasana Tayal, Brian P Halliday, Simon Newsome, Julian W.E. Jarman
Publikováno v:
Heart. 103:A4.2-A5
Background Dilated cardiomyopathy (DCM) has a 20% 5 year mortality. Cardiac MR (CMR) is an established outcome predictor. We evaluate the additive role of novel genetic and circulating biomarkers.Purpose Perform an integrated assessment to evaluate t
Autor:
Sanjay K Prasad, Upasana Tayal, James S. Ware, P.J. Barton, Roddy Walsh, Stuart A. Cook, N Whiffin, Rachel Buchan, Simon Newsome
Publikováno v:
Heart. 103:A2.2-A3
Background Truncating variants in titin (TTNtv) are the commonest genetic cause of dilated cardiomyopathy (DCM). They are notable for variable penetrance and expressivity, suggestive of environmental or genetic modifiers. Purpose Undertake deep pheno
Autor:
S Wilkinson, Sanjay K Prasad, Miguel Silva Vieira, Gillian Rea, Rachel Buchan, James S. Ware, Shibu John, Paul J.R. Barton, Joanna Petyrka, Roddy Walsh, Stuart A. Cook
Publikováno v:
Heart. 101:A97-A98
The titingene ( TTN ) is a major determinant of myocardial function, its importance in both familial and ‘idiopathic’ Dilated Cardiomyopathy (DCM) has recently been ascertained. In some instances a second genetic mutation or a physiological pertu
Autor:
A. John Baksi, Sanjay K Prasad, Rachel Buchan, Gillian Rea, Roddy Walsh, Jan Till, Ferran Rosés-Noguer, Sam Wilkinson, Stuart A. Cook, Robert W. Taylor, Tessa Homfray, Shane McKee, Victoria Murday, Paul J.R. Barton, Fiona Stewart, James S. Ware
Publikováno v:
Heart. 102:A138.2-A139
Histiocytoid cardiomyopathy (CM) is a rare, distinctive form of cardiomyopathy, characterised by malignant arrhythmias and associated sudden death. ~90% of cases present in females de novo nonsense mutation in NDUFB11 (c.262C>T; p. Arg88*) , located