A5019087751- Lysosomal Storage Disorders Research
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Cardiovascular Function and Risk Factors
- Trypanosoma species research and implications
- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Advanced MRI Techniques and Applications
- Cellular transport and secretion
- Cardiac Imaging and Diagnostics
- Sports injuries and prevention
- Congenital Heart Disease Studies
- Cardiac Arrest and Resuscitation
- Protein Tyrosine Phosphatases
- Dialysis and Renal Disease Management
- Cystic Fibrosis Research Advances
- Glycogen Storage Diseases and Myoclonus
- Neuroendocrine Tumor Research Advances
- Renal and Vascular Pathologies
- Cardiovascular Disease and Adiposity
- Blood Pressure and Hypertension Studies
- Heart Failure Treatment and Management
- Hedgehog Signaling Pathway Studies
- Cardiac Structural Anomalies and Repair
- Cardiac Arrhythmias and Treatments
Queen Elizabeth Hospital Birmingham
2016-2024
University Hospitals Birmingham NHS Foundation Trust
2016-2024
University of Birmingham
2017-2024
Queen Elizabeth Hospital
2024
Government of the United Kingdom
2024
NIHR Surgical Reconstruction and Microbiology Research Centre
2016-2021
University Hospitals of North Midlands NHS Trust
2019-2020
Greenlane Clinical Centre
2020
Queen Elizabeth Hospital
2017-2018
West China Second University Hospital of Sichuan University
2016
Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes important. Native T1 by cardiovascular magnetic resonance low, reflecting sphingolipid storage. Early phenotype development familiar in hypertrophic cardiomyopathy but unexplored FD. We explored the prehypertrophic cardiac of FD role storage.A prospective, international multicenter observational study 100 left ventricular...
Myocardial deformation is a sensitive marker of sub-clinical myocardial dysfunction that carries independent prognostic significance across broad range cardiovascular diseases. It now possible to perform 3D feature tracking SSFP cines on cardiac magnetic resonance imaging (FT-CMR). This study provides reference ranges for FT-CMR and assesses its reproducibility compared 2D FT-CMR. One hundred healthy individuals with 10 men women in each 5 age deciles from 20 70 years, underwent left...
Background: Cardiovascular magnetic resonance can demonstrate myocardial processes in Fabry disease (FD), such as low native T1 (sphingolipid storage) and late gadolinium enhancement (LGE, scar). Recently, high T2 (edema) has been observed the basal inferolateral wall along with troponin elevation. We hypothesized that edema myocyte injury would be chronically associated have electrical, mechanical, associations FD. Methods: A prospective international multicenter study was conducted on 186...
Introduction Detecting early cardiac involvement in Fabry disease (FD) is important because therapy may alter progression. Cardiovascular magnetic resonance (CMR) can detect T1 lowering, representing myocardial sphingolipid storage. In many diseases, mechanical dysfunction be detected by abnormal global longitudinal strain (GLS). We explored the relationship of and deposition FD. Methods An observational study 221 FD 77 healthy volunteers (HVs) who underwent CMR (LV volumes, mass, native T1,...
Left ventricular papillary muscles (LVPM) can appear disproportionately hypertrophied, particularly in Fabry disease (FD) where storage appears detectable by cardiovascular magnetic resonance (CMR) T1 mapping. The aim of the study was to measure LVPM mass heart diseases with left hypertrophy (LVH) and gain insight into mechanisms FD.Four hundred seventy-eight cases were retrospectively recruited: 125 FD, 85 hypertrophic cardiomyopathy (HCM), 67 amyloid, 82 aortic stenosis (AS), 40...
The study aim was to comprehensively assess physiological function and muscle morphology in chronically trained older individuals against untrained young individuals. In a cross-sectional design, 15 controls (YC) (20 ± 2.7 years, 78.9 13.3 kg), 12 (OC) (69.8 4.1 77.5 14.2 14 endurance-trained master athletes (MA) (67.1 68.7 6.5 kg) underwent assessments of body composition, aerobic capacity, strength, architecture, fiber-type morphology. Skeletal index lower fat greater OC versus MA....
Obesity is a major risk factor for insulin resistance (IR) and its attendant complications. The pathogenic mechanisms linking them remain poorly understood, partly due to lack of intermediary monogenic human phenotypes. Here, we report on form IR-prone obesity, Alström syndrome (ALMS). Twenty-three subjects with or polygenic obesity underwent hyperinsulinemic-euglycemic clamping concomitant adipose tissue (AT) microdialysis an in-depth analysis subcutaneous AT histology. We have shown...
Abstract Background Sinus of Valsalva aneurysm (SVA) is a rare but potentially life-threatening condition. Acute myocardial infarction (MI) consequence aneurysmal dilatation one or more sinuses Valsalva. We present case an unruptured and partially thrombosed left SVA, presenting as anterior MI congestive heart failure. Case summary A 55-year-old gentleman was admitted with pulmonary oedema late ST-elevation Q wave. After initial treatment on furosemide infusion, coronary angiography showed...
Patients with chronic kidney disease (CKD) have a disproportionately high risk of cardiovascular (CV) morbidity and mortality from the very early stages CKD. This excess is believed to be result myocardial commonly termed uremic cardiomyopathy (UC). It has been suggested that interstitial fibrosis progresses advancing may key mediator UC. longitudinal study reports data on structure function 30 patients CKD no known healthy controls. All underwent cardiac magnetic resonance imaging including...
Alström syndrome (ALMS) is a very rare autosomal recessive monogenic disorder caused by mutation in the ALMS1 gene and characterised childhood onset obesity, dyslipidaemia, advanced non-alcoholic fatty liver disease, diabetes extreme insulin resistance. There evidence of multi-organ fibrosis ALMS severity disease often leads to organ failure with associated morbidities, resulting reduced life expectancy. are no specific treatments for this current management consists only symptomatic...
Increased native myocardial T1 times in chronic kidney disease (CKD) may be due to diffuse interstitial fibrosis (DIF) or edema/inflammation. Concerns relating nephrogenic systemic with gadolinium-based contrast agents (GBCA) limit their use end-stage (ESKD) measure extracellular volume (ECV) and characterise fibrosis. This study aimed examine stability of T2 before, within 2 months after transplantation; a time frame when status normalises but remodelling is unlikely have occurred, compare...
Alström syndrome (AS) is a rare autosomal recessive ciliopathy with wide spectrum of clinical features, including cone-rod retinal dystrophy, neuronal deafness, severe insulin resistance and major organ failure. The characteristics renal disease in the have not been systematically described. aim this study to define onset progression AS.Prospective observational cohort study.Thirty-two adult subjects from national specialist clinic UK 86 an international AS registry were studied.First,...
Background Fabry disease is a treatable X-linked condition leading to progressive cardiomyopathy, arrhythmia and premature death. Atrial ventricular arrhythmias contribute significantly adverse prognosis; however, guidance determine which patients require cardiovascular implantable electronic devices (CIEDs) sparse. We aimed evaluate indications for implantation practice in the UK quantify device utilisation. Methods In this retrospective study, we included demographic, clinical imaging data...
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To examine the real-world efficacy of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in monogenic obesity patients with Alström syndrome (ALMS).
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disease characterised by early arrhythmias and structural changes. Still, there are limited echocardiography data on its progression. We studied progression impact the occurrence of major adverse cardiovascular events (MACE). In this single-centre observational cohort study, was defined as development new or minor imaging 2010 Task Force Criteria during follow-up. Of 101 patients, definite diagnosis ARVC made in 51...