A5010687599- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Renal Transplantation Outcomes and Treatments
- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- Pharmaceutical studies and practices
- Birth, Development, and Health
- Metabolism and Genetic Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Chronic Kidney Disease and Diabetes
- Nosocomial Infections in ICU
- Biotechnology and Related Fields
- Complementary and Alternative Medicine Studies
- Corneal Surgery and Treatments
- Pulmonary Hypertension Research and Treatments
- Liver Disease Diagnosis and Treatment
- Retinopathy of Prematurity Studies
- Student Assessment and Feedback
- Vascular Anomalies and Treatments
- Animal Behavior and Welfare Studies
- Pancreatic function and diabetes
- Educational and Psychological Assessments
Queen's University Belfast
2019-2025
Royal Victoria Hospital
2019-2025
University of Ulster
2019-2025
Belfast Health and Social Care Trust
2022
Belfast City Hospital
2019
Michigan State University
2019
Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous and nosebleeds. HHT caused a heterozygous null allele in ACVRL1 , ENG or SMAD4 which encode proteins mediating bone morphogenetic protein (BMP) signaling. Several missense stop‐gain variants identified GDF2 (encoding BMP9) have been reported to cause anomaly syndrome similar HHT, however none of these patients met...
A subset of individuals with type 1 diabetes mellitus (T1DM) are predisposed to developing diabetic kidney disease (DKD), the most common cause globally end-stage (ESKD). Emerging evidence suggests epigenetic changes in DNA methylation may have a causal role both T1DM and DKD. The aim this exploratory investigation was assess differences blood-derived patterns between T1DM-ESKD long-duration but no upon repeated testing identify potential blood-based biomarkers. Blood-derived from (107...
This multiple case study was used to explore students’ perceptions of what constitutes verbal feedback and impacts their receipt use feedback. Interpretivist research undertaken in a rural mixed secondary school Cornwall, UK involving four year nine students (aged 13–14 years) from two separate classes over eleven weeks. Learning diaries, semi-structured observations group interviews were the methods ascertain student delivery Thematic, inductive analysis analyse data. Findings demonstrated...
Kidney transplantation remains the gold standard of treatment for end-stage renal disease (ESRD), with improved patient outcomes compared dialysis. Epigenome-Wide Association Analysis (EWAS) DNA methylation may identify markers that contribute to an individual's risk adverse transplant outcomes, yet only a limited number EWAS have been conducted in kidney recipients. This aimed interrogate profile recipient cohort minimal posttransplant complications, exploring differences samples...
Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendations future projects. Methods: This formative evaluation included (1) an appraisal the logistics implementing and delivering WGS, (2) survey participant self-reported views experiences, (3) semi-structured interviews with healthcare staff as key...
<b><i>Introduction:</i></b> Only 5% of rare diseases have an approved treatment available, therefore patients often utilise complementary and integrative medicines (CIMs) to help manage their condition. Limited high-quality evidence-based studies are available which support the effectiveness CIM, as it is difficult show that outcome a direct result CIM intervention not due bias. Patients healthcare professionals must weigh up evidence quality, safety, efficacy,...
Abstract Early life adversity (ELA) is a risk factor for later emergence of functional and inflammatory GI disorders in people animals. In this study, we compared the early immune responses male piglets exposed to weaning (EW) at 16–18 d age, form ELA we’ve previously shown result altered developmental health trajectories similar humans, with that late weaned (LW: 28 wean age). RNA transcriptome analysis ileal mucosa 24h post-weaning revealed EW pigs exhibited greater number differentially...
The incidence of Clostridium difficile infection (CDI) hasincreased approximately 20 fold over the past years,and rates are currently per 100,000population. There a number risks factors for including antibiotic use, inflammatory bowel disease, co-morbidities and increasing age. Proton pumpinhibitors have also been implicated in CDI, althoughthis association remains controversial. rising CDI has associated with emergenceof more pathogenic strains this led to an increase mortality related...
Abstract A subset of individuals with type 1 diabetes mellitus (T1DM) are predisposed to developing diabetic kidney disease (DKD), which is the most common cause globally end-stage (ESKD). Emerging evidence suggests epigenetic changes in DNA methylation may have a causal role both T1DM and DKD. The aim this investigation was assess differences blood-derived patterns between T1DM-ESKD long-duration but no upon repeated testing. Blood-derived from (107 cases, 253 controls 14 experimental...