The blacklegged tick, Ixodes scapularis, is an ectoparasitic arachnid and vector for infectious diseases, including Lyme borreliosis. Here, we investigate the diurnal activity and respiration of wild-caught and lab-reared adult ticks with long-term video recording, multi-animal tracking and high-resolution respirometry. We find male and female ticks are in a more active, more arousable state during circadian night.
View Article and Find Full Text PDFBackground: Prevalence of self-harm In England is rising, however contact with statutory services remains relatively low. There is growing recognition of the potential role voluntary, community and social enterprise sector (VCSE) organisations have in the provision of self-harm support. We aimed to explore individuals' experiences of using these services and the barriers and facilitators to accessing support.
View Article and Find Full Text PDFWe describe the characterisation of a variable number tandem repeat (VNTR) domain within intron 1 of the amyotrophic lateral sclerosis (ALS) risk gene () (previously known as ), providing insight into how this domain could support differential gene expression and thus be a modulator of ALS progression or risk. We demonstrated the VNTR was functional in a reporter gene assay in the HEK293 cell line, exhibiting both the properties of an activator domain and a transcriptional start site, and that the differential expression was directed by distinct repeat number in the VNTR. These properties embedded in the VNTR demonstrated the potential for this VNTR to modulate expression.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis is a rapidly progressive neurodegenerative disease that affects 1/350 individuals in the United Kingdom. The cause of amyotrophic lateral sclerosis is unknown in the majority of cases. Two-sample Mendelian randomization enables causal inference between an exposure, such as the serum concentration of a specific metabolite, and disease risk.
View Article and Find Full Text PDFAmyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death. Despite heritability estimates of 52%, genome-wide association studies (GWASs) have discovered relatively few loci. We developed a machine learning approach called RefMap, which integrates functional genomics with GWAS summary statistics for gene discovery.
View Article and Find Full Text PDFAge-associated neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD) and Alzheimer's disease (AD) are an unmet health need, with significant economic and societal implications, and an ever-increasing prevalence. Membrane lipid rafts (MLRs) are specialised plasma membrane microdomains that provide a platform for intracellular trafficking and signal transduction, particularly within neurons. Dysregulation of MLRs leads to disruption of neurotrophic signalling and excessive apoptosis which mirrors the final common pathway for neuronal death in ALS, PD and AD.
View Article and Find Full Text PDFExp Biol Med (Maywood)
June 2021
Understanding the mechanisms regulating tissue specific and stimulus inducible regulation is at the heart of understanding human biology and how this translates to wellbeing, the ageing process, and disease progression. Polymorphic DNA variation is superimposed as an extra layer of complexity in such processes which underpin our individuality and are the focus of personalized medicine. This review focuses on the role and action of repetitive DNA, specifically variable number tandem repeats and SINE-VNTR- domains, highlighting their role in modification of gene structure and gene expression in addition to their polymorphic nature being a genetic modifier of disease risk and progression.
View Article and Find Full Text PDFBackground: With the range of health information online, assessing the resources that patients access may improve the content of preoperative information. Our aim was to assess the content of the most viewed videos on YouTube related to surgery for ulcerative colitis (UC).
Methods: YouTube was searched for videos containing information on surgery for UC.
Background: Guidance from the Royal College of Surgeons advocates patient use of on-line resources to assist in decision making. Our aim was to assess the quality of on-line resources to facilitate decision making for patients considering surgery for ulcerative colitis (UC).
Methods: We undertook a systematic review based on PRISMA guidelines.
Using the phenomenography method, interviews with patients and practitioners were undertaken to explore their understanding of 'health that is more than the absence of disease'. The question was challenging and stimulating for all interviewees. A few were unable to conceptualise this positive definition of health, some perceived it as an optimum end-state, whereas others saw it as an ongoing process.
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