A5067624521- Lipoproteins and Cardiovascular Health
- Diabetes Treatment and Management
- Cardiomyopathy and Myosin Studies
- Metabolism, Diabetes, and Cancer
- Lipid metabolism and disorders
- Cardiovascular Effects of Exercise
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Liver Disease Diagnosis and Treatment
- Pharmacology and Obesity Treatment
- Cancer, Lipids, and Metabolism
- Diet, Metabolism, and Disease
- Fire effects on ecosystems
- Rangeland and Wildlife Management
- Archaeology and Natural History
- Pain Mechanisms and Treatments
- Healthcare Systems and Technology
- Viral Infections and Immunology Research
- Nutrition and Health in Aging
- Drug Transport and Resistance Mechanisms
- Cardiac electrophysiology and arrhythmias
- Pneumonia and Respiratory Infections
- Heart Rate Variability and Autonomic Control
- Cardiovascular Syncope and Autonomic Disorders
- Liver Disease and Transplantation
- Diet and metabolism studies
Johns Hopkins University
2018-2025
Johns Hopkins Hospital
2019-2025
University of Bristol
2025
Johns Hopkins Medicine
2018-2024
University of Liverpool
2012-2023
Aintree University Hospitals NHS Foundation Trust
2020-2023
Aintree University Hospital
2012-2021
National Health Service
2021
Florida Southern College
2018-2019
University of Baltimore
2017-2019
Each of the cardiomyopathies, classically categorized as hypertrophic cardiomyopathy, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular has a signature genetic theme. Hypertrophic are largely understood diseases sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning >10 gene ontologies have been implicated in DCM, representing complex diverse architecture. To clarify this, systematic curation evidence to establish relationship with DCM was conducted.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by arrhythmias and progressive dysfunction. Genetic testing recommended, a pathogenic variant in ARVC-associated gene major criterion for diagnosis according to the 2010 Task Force Criteria. As incorrect attribution of ARVC can contribute misdiagnosis, we assembled international multidisciplinary Clinical Genome Resource Gene Curation Expert Panel reappraise all reported genes.Following comprehensive...
Aims To investigate the association between overweight/obesity and fatty liver index (FLI) on odds of incident prediabetes/type 2 diabetes non-alcoholic disease (NAFLD) in 2020 participants after 10 years follow up.Methods At baseline (in 2001) participants, males females, aged 24–39 years, were stratified according to body mass (BMI), normal weight (<25 kg/m2), overweight (≥25–<30 or obese (≥30 kg/m2) FLI (as high ≥60 low <60). We examined incidence NAFLD (ultrasound assessed) over 2011...
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise clinical validity previously new putative HCM genes. The gene curation framework was used re-classify...
Type 2 diabetes (T2D) is associated with significant end-organ damage and ectopic fat accumulation. Multiparametric magnetic resonance imaging (MRI) can provide a rapid, noninvasive assessment of multiorgan body composition. The primary objective this study was to investigate differences in visceral adiposity, accumulation, composition, relevant biomarkers between people without T2D.Participant demographics, routine biochemistry, multiparametric MRI scans the liver, pancreas, subcutaneous...
Abstract Background Antibiotics are prescribed for over 50% of RTIs in primary care, despite good evidence most patients do not benefit. Rapid multiplex microbiological point-of-care-tests (POCTRM) determine the presence/ absence respiratory pathogens 15 min. Whether POCTRM reduce antibiotic prescribing without worsening patient outcomes is known. Objectives To investigate whether can (i) same-day children and adults presenting to care with RTIs; (ii) change symptom severity on Days 2 4....
TDP-43 mislocalization, aggregation, and loss of splicing function are neuropathological hallmarks in over 97% Amyotrophic Lateral Sclerosis (ALS), 45% Frontotemporal Lobar Degeneration (FTLD), 60% Alzheimer's Disease, which has been reclassified as LATE-NC. However, the mechanisms underlying dysfunction remain elusive. Here, we utilize APEX2-driven proximity labeling mass spectrometry to characterize context-dependent interactome conditions cytoplasmic impaired RNA-binding contributing...
Dysbetalipoproteinaemia (HLP3) is a disorder characterized by excess cholesterol-enriched, triglyceride-rich lipoprotein remnants in genetically predisposed individuals that powerfully promote premature cardiovascular disease if untreated. The current prevalence of HLP3 largely unknown.We performed cross-sectional analysis 128,485 U.S. adults from the Very Large Database Lipids (VLDbL), using four algorithms to diagnose employing three Vertical Auto Profile ultracentrifugation (UC) criteria...
Missed primary care appointments occur frequently among urban, low-income patients-some of the costliest and sickest patients. We conducted semi-structured interviews with 43 patients who reside in West Philadelphia (100% insured by Medicaid, 95% were non-Hispanic African Americans, 47.1 years old on average) to identify why recent or might have been missed. Existing transportation options, including public transportation, considered unreliable alternative options too costly. In addition, we...
Patient letters are a powerful tool that genetic counselors use to communicate with their patients. often sent provide information on new diagnosis, reiterate test results, and serve as permanent record of the visit. letters, however, only helpful if patients can understand them. More than 50 % US population reads below 9th grade reading level over one-third has low health literacy skills. In this study we evaluate readability counseling patient by assessing level, image use, terminology...
The association between triglycerides (TG) and cardiovascular diseases is complex. classification of hypertriglyceridemic (HTG) phenotypes proposed by Fredrickson, Levy Lees (FLL) helps inform treatment strategies. We aimed to describe levels several lipoprotein variables from individuals with HTG FLL the Very Large Database Lipids.We included fasting samples 979,539 a contemporary large study population US adults. Lipids were directly measured density-gradient ultracentrifugation using...
There are a variety of causes acute heart failure in children including myocarditis, genetic/metabolic conditions, and congenital defects. In cases with structurally normal negative personal family history, myocarditis is often presumed to be the cause, but we hypothesise that genetic disorders contribute significant portion these cases. We reviewed our who presented underwent testing from 2008 2017. Eighty-seven percent individuals were found have either syndrome or pathogenic likely...
Abstract Familial hypercholesterolemia (FH) is the most common inherited form of high cholesterol that significantly increases risk for coronary artery disease. Early detection and treatment can decrease morbidity mortality provide important information to family members. However, FH remains vastly underdiagnosed undertreated. Cascade screening process iteratively testing first‐degree relatives a genetic It has been shown effectively identify individuals with undiagnosed FH. The majority...