Search Results - "Bueser, Teofila"
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International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM)
Published in Circulation (New York, N.Y.) (06-03-2018)“…BACKGROUND:Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require a prophylactic implantable…”
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
Published in Genetics in medicine (01-07-2019)“…Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the…”
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Consensus recommendations on holistic care in hereditary ATTR amyloidosis: an international Delphi survey of patient advocates and multidisciplinary healthcare professionals
Published in BMJ open (05-09-2023)“…Background Hereditary transthyretin-mediated amyloidosis is a rare, progressive and potentially life-limiting multisystem disease, affecting every aspect of a…”
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Implementing a clinical scientist-led screening clinic for hypertrophic and dilated cardiomyopathies
Published in Echo research and practice (17-04-2024)“…The burden of screening for inherited cardiac conditions on health services grows ever larger, with each new diagnosis necessitating screening of additional…”
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Early detection of inherited cardiac conditions in primary care
Published in Primary health care (25-07-2018)“…Inherited cardiac conditions are a leading cause of sudden death in those under 40. A thorough family history taken in the primary care setting will enable…”
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Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy
Published in Cochrane database of systematic reviews (16-10-2018)“…The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent…”
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Developing a Psychoeducational Intervention to Support Patients Undergoing Screening And/Or Predictive Genetic Testing for Inherited Cardiac Conditions (The Pisicc Study)
Published 01-01-2022“…Background: Inherited cardiac conditions (ICCs) encompass two disease entities: Inherited cardiomyopathies and Inherited arrhythmic syndromes. The prevalence…”
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Dissertation -
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Family matters: health policies to tackle cardiomyopathies across Europe
Published in European heart journal (16-11-2024)Get full text
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The impact of the COVID-19 pandemic on recovery from cardiac surgery over time: results of the CardiacCovid study from three UK national lockdowns
Published in European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology (28-05-2024)“…This prospective study explores health-related quality of life (EQ-5D-5L), event-related distress (IES-R), and depression (CES-D) after cardiac surgery during…”
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Extensive endoscopic sinus surgery: does this reduce the revision rate for nasal polyposis?
Published in European archives of oto-rhino-laryngology (01-10-2010)“…Nasal polyps treated either medically or surgically have a high recurrence rate. It is hypothesised that the performance of an extensive endoscopic sinus…”
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Overarching Priorities for Health and Care Research in the United Kingdom: A Coproduced Synthesis of James Lind Alliance ‘Top 10s’
Published in Health expectations : an international journal of public participation in health care and health policy (01-06-2024)“…ABSTRACT Introduction James Lind Alliance (JLA) Priority Setting Partnerships (PSPs) produce ‘Top 10’ lists of health and care research priorities through a…”
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The impact of the COVID-19 pandemic on recovery from cardiac surgery: 1-year outcomes
Published in European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology (19-07-2023)“…Abstract Aims The outbreak of COVID-19 was potentially stressful for everyone and possibly heightened in those having surgery. We sought to explore the impact…”
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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing
Published in Europace (London, England) (01-06-2016)“…The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing…”
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Whole-genome sequencing of patients with rare diseases in a national health system
Published in Nature (London) (02-07-2020)Get full text
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Whole-genome sequencing of patients with rare diseases in a national health system
Published in Nature (London) (02-07-2020)Get full text
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Supporting patients and families with inherited cardiac conditions
Published in Nursing times (1987) (01-04-2017)“…It's estimated that about 340,000 individuals in the UK are affected by inherited cardiac conditions (ICCs), which are a major cause of sudden death in the…”
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