RD&E Research Repository: Recent submissions
Now showing items 21-40 of 2646
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Next-Generation RNA-Sequencing of Serum Small Extracellular Vesicles Discovers Potential Diagnostic Biomarkers for Dementia With Lewy Bodies
(Elsevier Science, 2021-06)Objective: There is an urgent clinical need for identifying blood-based diagnostic biomarkers for Dementia with Lewy Bodies (DLB). Transcriptomic studies have reported unique RNA changes in postmortem DLB brains. Small ... -
Suspected appendicitis and COVID-19, a change in investigation and management-a multicentre cohort study
(Springer, 2021-03)Purpose: The COVID-19 pandemic has reformed global healthcare delivery. On 25 March 2020, Intercollegiate guidelines were published in the UK to promote safe surgical provision during the COVID-19 outbreak advocating ... -
The feasibility of online video calling to engage patients with cystic fibrosis in exercise training
(Atypon, 2020-07)Introduction: Physical activity, including structured exercise, is an essential component in the management of cystic fibrosis. The use of telehealth such as video-calling may be a useful method for the delivery of exercise ... -
Evaluating variants classified as pathogenic in ClinVar in the DDD Study
(Nature Publishing Group, 2021-03)Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may ... -
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
(American Society for Clinical Investigation, 2020-12-01)Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in ... -
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
(Nature Publishing Group, 2020-11-09)Both poly(A) enrichment and ribosomal RNA depletion are commonly used for RNA sequencing. Either has its advantages and disadvantages that may lead to biases in the downstream analyses. To better access these effects, we ... -
Isoform-specific upregulation of FynT kinase expression is associated with tauopathy and glial activation in Alzheimer's disease and Lewy body dementias
(Wiley, 2021-03)Cumulative data suggest the involvement of Fyn tyrosine kinase in Alzheimer's disease (AD). Previously, our group has shown increased immunoreactivities of the FynT isoform in AD neocortex (with no change in the alternatively ... -
Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics
(Elsevier Science, 2020-10-16)The raw datasets of oxysterol quantifications from whole cell and mitochondrial fractions of THP-1 monocytes and macrophages, neuronal-like SH-SH5Y cells and human peripheral blood mononuclear cells are presented. Oxysterols ... -
Sex-specific outcome disparities in very old patients admitted to intensive care medicine: a propensity matched analysis
(Nature Publishing Group, 2020-10-29)Female and male very elderly intensive patients (VIPs) might differ in characteristics and outcomes. We aimed to compare female versus male VIPs in a large, multinational collective of VIPs with regards to outcome and ... -
Robotic-Assisted Patellofemoral Replacement-Correlation of Preoperative Planning with Intraoperative Implant Position and Early Clinical Experience: A Minimum 2-Year Follow-up
(Thieme Medical Publishers, 2020-10-30)Patello-femoral arthroplasty (PFA) is successful in a selected group of patients and yields a good functional outcome. Robotic-assisted knee arthroplasty has been shown to provide better implant positioning and alignment. ... -
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
(HighWire, 2021-05)Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency in the weighting assigned to individual elements of evidence ... -
Full-thickness Skin Graft Fixation Techniques: A Review of the Literature
(PubMed Central, 2020-07)Multiple techniques for skin graft fixation have been proposed, but the evidence underlying these techniques is unclear. This study aimed to review the literature for full-thickness graft fixation techniques. PubMed was ... -
Screening and Intervention to Prevent Falls and Fractures in Older People
(Atypon, 2020-11-05)Background: Community screening and therapeutic prevention strategies may reduce the incidence of falls in older people. The effects of these measures on the incidence of fractures, the use of health resources, and ... -
From GOLD 0 to Pre-COPD
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Periprosthetic joint infection in the knee - Criteria for the management of PJI
(Elsevier Science, 2020-12) -
Validating the positivity thresholds of drug-tolerant anti-infliximab and anti-adalimumab antibody assays
(Wiley, 2021-01)Background: When used proactively, drug-tolerant anti-tumour necrosis factor (TNF) antibody assays provide early opportunity to suppress immunogenicity. Aim: To validate positivity thresholds of IDKmonitor drug-tolerant ... -
Patellotrochlea Index in Normal Healthy Knees
(Thieme Medical Publishers, 2020-11-23)Patella alta is a common and significant abnormality responsible for many patellofemoral joint-related conditions. Many methods of patella height measurements are described; however, patellotrochear index (PTI) is the most ... -
Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy
(Silverchair, 2020-11-24)Importance: Hereditary hemochromatosis is predominantly caused by the HFE p.C282Y homozygous pathogenic variant. Liver carcinoma and mortality risks are increased in individuals with clinically diagnosed hereditary ... -
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
(Oxford University Press, 2020-12-05)Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving ... -
Effects of exenatide on microvascular reactivity in patients with type 2 diabetes and coronary artery disease: A randomized controlled study
(Wiley, 2021-02)This article is available to RD&E staff via NHS OpenAthens. Click on the Publisher URL, and log in with NHS OpenAthens if prompted.