The impact of gene loss on the diversification of taxa and the emergence of evolutionary innovations remains poorly understood. Here, our investigation on the evolution of the Fibroblast Growth Factors (FGFs) in appendicularian tunicates as a case study reveals a scenario of "less, but more" characterized by massive losses of all Fgf gene subfamilies, except for the Fgf9/16/20 and Fgf11/12/13/14, which in turn underwent two bursts of duplications. Through phylogenetic analysis, synteny conservation, and gene and protein structure, we reconstruct the history of appendicularian Fgf genes, highlighting their paracrine and intracellular functions.
View Article and Find Full Text PDFPeople with type 2 diabetes (T2D) are more likely to experience binge eating than the general population, which may interfere with their diabetes management. Guided self-help (GSH) is one of the recommended treatment options for binge eating disorder, but there is currently a lack of evidenced treatment for binge eating in individuals living with T2D. The aims of this pilot study were to test the feasibility and acceptability of recruiting and delivering the adapted, online Working to Overcome Eating Difficulties GSH intervention to adults with T2D and binge eating.
View Article and Find Full Text PDFIntroduction: Scapholunate instability is one of the most frequent types of wrist instability, but optimal management is not established. This research aims to identify current conservative management strategies for stage-one scapholunate instability and how these interventions are evaluated in the UK.
Methods: A cross-sectional online survey of UK physiotherapists and occupational therapists with self-reported experience in the rehabilitation of stage-one scapholunate instability (ReSOS), was developed using the CROSS guideline and a clinical vignette.
Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to study the genotype distribution of FCS-causing genes in the United Kingdom, genotype-phenotype correlation, and clinical differences between FCS and multifactorial chylomicronemia syndrome (MCS).
Methods: The study included 154 patients (FCS, 74; MCS, 80) from the UK FCS national registry and the UK arm of the FCS International Quality Improvement and Service Evaluation Project.
Oikopleura dioica is a planktonic tunicate (Appendicularia class) found extensively across the marine waters of the globe. The genome of a single male individual collected from Okinawa, Japan was sequenced using the single-molecule PacBio Hi-Fi method and assembled with NOVOLoci. The mitogenome is 39,268 bp long, featuring a large control region of around 22,000 bp.
View Article and Find Full Text PDFBackground And Objective: Since targeted treatment for gastrointestinal pain is elusive, identifying the mechanistic underpinning of this pain type is important. Facilitation of spinal neuronal responses underpins certain pain types, and the psychophysical temporal summation of pain (TSP) paradigm provides a proxy measure of spinal facilitatory processes. Our aim was to systematically review whether facilitated TSP is a feature of gastrointestinal pain in patients with, or pain-free people experiencing experimentally induced, gastrointestinal pain.
View Article and Find Full Text PDFNon-specific low back pain (NSLBP) may account for 90-95% of cases of low back pain presenting to primary care. Clinicians should remain vigilant however to non-spinal musculoskeletal conditions that may mimic NSLBP and musculoskeletal complaints. We present a case of a 38-year-old female with low back pain, lower limb tightness, groin pain, and leg cramps.
View Article and Find Full Text PDFGenome structural variations within species are rare. How selective constraints preserve gene order and chromosome structure is a central question in evolutionary biology that remains unsolved. Our sequencing of several genomes of the appendicularian tunicate around the globe reveals extreme genome scrambling caused by thousands of chromosomal rearrangements, although showing no obvious morphological differences between these animals.
View Article and Find Full Text PDFBackground And Aims: Prognosis and management differ between familial chylomicronaemia syndrome (FCS), a rare autosomal recessive disorder, and multifactorial chylomicronaemia syndrome (MCS) or severe mixed hyperlipidaemia. A clinical scoring tool to differentiate these conditions has been devised but not been validated in other populations. The objective of this study was to validate this score in the UK population and identify any additional factors that might improve it.
View Article and Find Full Text PDFThe analysis of microbial genomes from human archaeological samples offers a historic snapshot of ancient pathogens and provides insights into the origins of modern infectious diseases. Here, we analyze metagenomic datasets from 38 human archaeological samples and identify bacterial genomic sequences related to modern-day Clostridium tetani, which produces the tetanus neurotoxin (TeNT) and causes the disease tetanus. These genomic assemblies had varying levels of completeness, and a subset of them displayed hallmarks of ancient DNA damage.
View Article and Find Full Text PDFCurr Opin Support Palliat Care
September 2023
Purpose Of Review: Cervical spine radiculopathy (CSR) presents a complex socioeconomic problem for patients, clinicians, families, employers and healthcare systems. Due to the heterogeneity of clinical presentation and underlying mechanisms, clinical assessment can be challenging. This review will examine the literature on the underlying pathophysiology and studies investigating the holistic assessment strategies for this disabling condition.
View Article and Find Full Text PDFWe have reviewed the genetic basis of chylomicronaemia, the difference between monogenic and polygenic hypertriglyceridaemia, its effects on pancreatic, cardiovascular, and microvascular complications, and current and potential future pharmacotherapies. Severe hypertriglyceridaemia (TG > 10 mmol/L or 1000 mg/dL) is rare with a prevalence of <1%. It has a complex genetic basis.
View Article and Find Full Text PDFBackground: Chronic pain is a disabling condition. Many people with chronic pain seek informal support for everyday activities of daily living (ADL). However, there remains uncertainty on the type of people with chronic pain who access this support, what types of support they need and who provides such support.
View Article and Find Full Text PDFBackground: Neck pain, with or without radiculopathy, can have significant negative effects on physical and mental wellbeing. Mental health symptoms are known to worsen prognosis across a range of musculoskeletal conditions. Understanding the association between mental health symptoms and health outcomes in this population has not been established.
View Article and Find Full Text PDFAims: People with type 2 diabetes (T2D) are more likely to experience binge eating than the general population, which may interfere with their diabetes management. Guided self-help (GSH) is the recommended treatment for binge-eating disorder, but there is currently a lack of evidenced treatment for binge eating in individuals living with T2D. The aims of the current study were to adapt an existing evidence-based GSH intervention using the principles of co-design to make it available online, suitable for remote delivery to address binge eating specifically in adults living with T2D.
View Article and Find Full Text PDFThe features of Patellar-Tendinopathy are (1): pain localised to the inferior pole of the patellar; (2): the presence of load-related pain. Body-Weight and Body-Mass-Index, as two easily-measured variables, could potentially aid the prediction of PT. This review aims to establish relationships between Body-Weight and Body-Mass-Index and Patellar-Tendinopathy via synthesising the evidence from prospective-cohort and cross-sectional studies in elite basketball and volleyball players.
View Article and Find Full Text PDFDiphtheria toxin (DT) is the archetype for bacterial exotoxins implicated in human diseases and has played a central role in defining the field of toxinology since its discovery in 1888. Despite being one of the most extensively characterized bacterial toxins, the origins and evolutionary adaptation of DT to human hosts remain unknown. Here, we determined the first high-resolution structures of DT homologs outside of the Corynebacterium genus.
View Article and Find Full Text PDFBackground: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an important but underutilised option to help optimise lipid management. We developed a new service to improve patient access to these medicines in line with National Institute for Health and Care Excellence recommendations. This paper describes the model and provides lipid-lowering results and feedback from the first 100 referred patients.
View Article and Find Full Text PDFBackground: Renal blood flow (RBF) can be measured with dynamic contrast enhanced-MRI (DCE-MRI) and arterial spin labeling (ASL). Unfortunately, individual estimates from both methods vary and reference-standard methods are not available. A potential solution is to include a third, arbitrating MRI method in the comparison.
View Article and Find Full Text PDFBackground: Being able to function cognitively is imperative for successful achievement in school, working life, and disease self-management. Diabetes is known to cause changes in brain structure and long-term cognitive dysfunction. This work investigated cystic fibrosis-related diabetes (CFRD) as a mechanism for cognitive impairment in people with CF.
View Article and Find Full Text PDFIntroduction: Cervical spine pain with or without radiculopathy (CSp ± R) has significant negative impacts to a person's quality of life. Psychosocial factors and/or mental health symptoms are associated with spinal pain with or without radiculopathy and negatively impact health outcomes. This area of research is not yet established for CSp ± R.
View Article and Find Full Text PDFBackground: The larvacean Oikopleura dioica is an abundant tunicate plankton with the smallest (65-70 Mbp) non-parasitic, non-extremophile animal genome identified to date. Currently, there are two genomes available for the Bergen (OdB3) and Osaka (OSKA2016) O. dioica laboratory strains.
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