RD&E Research Repository: Recent submissions
Now showing items 21-40 of 2543
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Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial
(Elsevier Science, 2020-10)Background: Circulating tumour DNA (ctDNA) testing might provide a current assessment of the genomic profile of advanced cancer, without the need to repeat tumour biopsy. We aimed to assess the accuracy of ctDNA testing ... -
Geometric semi-automatic analysis of radiographs of Colles' fractures
(Public Library of Science, 2020-09-14)Fractures of the wrist are common in Emergency Departments, where some patients are treated with a procedure called Manipulation under Anaesthesia. In some cases, this procedure is unsuccessful and patients need to revisit ... -
From Biology to Genes and Back Again: Gene Discovery for Monogenic Forms of Beta-Cell Dysfunction in Diabetes
(Elsevier Science, 2020-03-06)This review focuses on gene discovery strategies used to identify monogenic forms of diabetes caused by reduced pancreatic beta-cell number (due to destruction or defective development) or impaired beta-cell function. Gene ... -
Mild Behavioral Impairment as a Marker of Cognitive Decline in Cognitively Normal Older Adults
(Elsevier Science, 2019-08)Objective: Mild behavioral impairment (MBI) is a neurobehavioral syndrome characterized by later life emergent neuropsychiatric symptoms (NPS) that represent an at-risk state for incident cognitive decline and dementia in ... -
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome
(Wellcome Open Research, 2020-08-04)Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome. A range of clinical features can result from these ... -
Whole transcriptome in silico screening implicates cardiovascular and infectious disease in the mechanism of action underlying atypical antipsychotic side effects
(Wiley-Blackwell, 2020-08-24)Background: Stroke/thromboembolic events, infections, and death are all significantly increased by antipsychotics in dementia but little is known about why they can be harmful. Using a novel application of a drug repurposing ... -
Type 1 Diabetes: Interferons and the Aftermath of Pancreatic Beta-Cell Enteroviral Infection
(Multidisciplinary Digital Publishing Institue, 2020-09-15)Enteroviruses (EVs) have long been implicated in the pathogenesis of type 1 diabetes (T1D), and accumulating evidence has associated virus-induced autoimmunity with the loss of pancreatic beta cells in T1D. Inflammatory ... -
Ruxolitinib Controls Lymphoproliferation and Diabetes in a STAT3-GOF Patient
(Springer, 2020-11)This article is available to RD&E staff via NHS OpenAthens. Click on the Publisher URL, and log in with NHS OpenAthens if prompted. -
Glucagon-like peptide-1 receptor agonists as neuroprotective agents for ischemic stroke: a systematic scoping review
(Atypon, 2021-01)Stroke mortality and morbidity is expected to rise. Despite considerable recent advances within acute ischemic stroke treatment, scope remains for development of widely applicable neuroprotective agents. Glucagon-like ... -
Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis
(Elsevier Science, 2020-09-03)Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented ... -
Ethnic Differences in Body Fat Deposition and Liver Fat Content in Two UK-Based Cohorts
(Wiley, 2020-11)Objective: Differences in the content and distribution of body fat and ectopic lipids may be responsible for ethnic variations in metabolic disease susceptibility. The aim of this study was to examine the ethnic distribution ... -
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation
(Elsevier Science, 2020-10-01)Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), ... -
Annotating high-impact 5'untranslated region variants with the UTRannotator
(Oxford University Press, 2020-09-14)Summary: Current tools to annotate the predicted effect of genetic variants are heavily biased towards protein-coding sequence. Variants outside of these regions may have a large impact on protein expression and/or structure ... -
Factors associated with implant survival following total hip replacement surgery: A registry study of data from the National Joint Registry of England, Wales, Northern Ireland and the Isle of Man
(Public Library of Science, 2020-08-31)Background: Nearly 100,000 people underwent total hip replacement (THR) in the United Kingdom in 2018, and most can expect it to last at least 25 years. However, some THRs fail and require revision surgery, which results ... -
Factors influencing family member perspectives on safety in the intensive care unit: a systematic review
(Oxford University Press, 2020-11-16)Purpose: Patient safety has developed as a strong marker for healthcare quality. Safety matters are important in the intensive care unit (ICU) where complex clinical decisions are made, intensive technology is used, and ... -
The Management of Symptomatic Lumbar Disc Herniation in Pregnancy: A Systematic Review
(Atypon, 2020-10)Study design: Systematic review. Objectives: Lumbar disc herniation (LDH) has been reported to affect 1 in 10 000 pregnant women. There is limited evidence available regarding the optimal management of LDH in pregnant ... -
Genetics of early growth traits
(Oxford University Press, 2020-09-30)In recent years, genome-wide association studies have shed light on the genetics of early growth and its links with later-life health outcomes. Large-scale datasets and meta-analyses, combined with recently developed ... -
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations
(Silverchair Information Systems, 2020-12-01)Context: Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their ...