Background: Large-scale multicentre studies are needed to understand complex relationships between the gut microbiota, health and disease. Interrogating the mucosal microbiota may identify important biology not captured by stool analysis. Gold standard tissue cryopreservation ('flash freezing') limits large-scale study feasibility.
View Article and Find Full Text PDFBackground And Aims: The co-existence of fatigue, pain and faecal incontinence in people with Inflammatory Bowel Disease (IBD) is unknown. We aimed to determine the presence of and relationship between these symptoms and patients' desire for intervention.
Methods: Adults with IBD in the UK, recruited from clinics, the national IBD-BioResource, a patient charity and social media sources, completed PROMIS validated patient-reported questionnaires to identify fatigue, pain and faecal incontinence, in addition to symptom severity and impact, disease activity, anxiety and depression questionnaires and questions about their desire for help with these symptoms.
Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .
View Article and Find Full Text PDFIn systemic lupus erythematosus (lupus), environmental effects acting within a permissive genetic background lead to autoimmune dysregulation. Dysfunction of CD4+ T cells contributes to pathology by providing help to autoreactive B and T cells, and CD4+ T cell dysfunction coincides with altered DNA methylation and histone modifications of select gene loci. However, chromatin accessibility states of distinct T cell subsets and mechanisms driving heterogeneous chromatin states across patients remain poorly understood.
View Article and Find Full Text PDFAim: The objective of this study was to explore changes in Australian consumer food behaviours during COVID-19 public health restrictions (lockdown), to provide insights into how this unforeseen crisis event affected dietary behaviour patterns.
Methods: An online cross-sectional survey was conducted in September 2020 with a nationally representative sample of the Australian adult population. Participants were asked to complete questions about (1) meal planning and food purchasing and (2) barriers to cooking, before and during a national-wide COVID-19 lockdown in early 2020.