RD&E Research Repository: Recent submissions
Now showing items 21-40 of 1986
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Intra-anal use of imiquimod: what is the clinical evidence?
(Sage, 2019-09)Imiquimod has been demonstrated to be rather effective in patients with anal as well as perianal high-grade squamous intraepithelial lesions (HSILs). Nevertheless, until now the intra-anal use of imiquimod has been considered ... -
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population
(Wiley, 2019-07)AIM To examine the extent to which discriminatory testing using antibodies and Type 1 diabetes genetic risk score, validated in European populations, is applicable in a non-European population. METHODS: We recruited 127 ... -
Cathepsin L-induced galectin-1 may act as a proangiogenic factor in the metastasis of high-grade serous carcinoma
(Biomed Central, 2019-07)New treatment options for metastasised high-grade serous carcinoma (HGSC) are urgently needed. HGSC frequently metastasises to the omentum, inducing angiogenesis in the local omental microvasculature to facilitate tumour ... -
Factors associated with depression in people with inflammatory bowel disease: The relationship between active disease and biases in neurocognitive processing
(Wiley, 2019-08)Depression is common among people with inflammatory bowel disease (IBD), though the causes remain unclear. We conducted a cross-sectional study to investigate the role of emotional processing biases in contributing to ... -
Renal sympathetic denervation for treatment of hypertension: where are we now in 2019?
(Wolters Kluwer, 2019-09)Although sound physiological principles and surgical precedent underpin renal denervation as a therapy for treatment resistant hypertension, and early clinical studies had produced encouraging results, the first sham-controlled ... -
How, when and where do human β-cells regenerate
(Springer, 2019-06)Pancreatic β-cells play a critical role in whole-body glucose homeostasis by regulating the release of insulin in response to minute by minute alterations in metabolic demand. As such, β-cells are staunchly resilient but ... -
Alzheimer's Disease associated genes ankyrin and tau cause shortened lifespan and memory loss in Drosophila
(Open Access Frontiers, 2019-06)Alzheimer's disease (AD) is the most common form of dementia and is characterized by intracellular neurofibrillary tangles of hyperphosphorylated Tau, including the 0N4R isoform and accumulation of extracellular amyloid ... -
The effect of genetic variation on the placental transcriptome in humans
(Open Access Frontiers, 2019-06)The knowledge of genetic variants shaping human placental transcriptome is limited and they are not cataloged in the Genotype-Tissue Expression project. So far, only one whole genome analysis of placental expression ... -
Longitudinal investigation of DNA methylation changes preceding adolescent psychotic experiences
(Nature, 2019-02)Childhood psychotic experiences (PEs), such as seeing or hearing things that others do not, or extreme paranoia, are relatively common with around 1 in 20 children reporting them at age 12. Childhood PEs are often distressing ... -
Association of maternal circulating 25(OH)D and calcium with birth weight: A mendelian randomisation analysis
(PLoS, 2019-06)Systematic reviews of randomised controlled trials (RCTs) have suggested that maternal vitamin D (25[OH]D) and calcium supplementation increase birth weight. However, limitations of many trials were highlighted in the ... -
Enrichment factors for clinical trials in mild-to-moderate Alzheimer's disease
(Elsevier, 2019-05)Heterogeneity of outcomes in Alzheimer's disease (AD) clinical trials necessitates large sample sizes and contributes to study failures. This analysis determined whether mild-to-moderate AD populations could be enriched ... -
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1
(Springer, 2019-11)Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characterized by dysregulated insulin secretion. Pathogenic variants in at least twelve different genes (ABCC8, KCNJ11, GLUD1, GCK, ... -
Improving patient care in monogenic diabetes through research and education
(Wiley, 2019-05)The 2019 Arnold Bloom lecture reviewed the progress in monogenic diabetes since the start of the service in Exeter in 1995 to present day. The impact of a correct molecular genetic diagnosis has been profound for many ... -
Remission of membranous nephropathy after treatment of localised prostate cancer
(Karger, 2019-06)Membranous nephropathy is a cause of the nephrotic syndrome in adults; it can be a primary or secondary process. Secondary causes include solid organ and lymphoid malignancies. Prostate cancer has been reported as the ... -
50 years of total knee arthroplasty
(British Editorial Society of Bone & Joint Surgery, 2019-05) -
Drug toxicity: personalising IBD therapeutics - the use of genetic biomarkers to reduce drug toxicity
(Springer, 2019-05)Adverse drug reactions (ADRs) result in morbidity and mortality as well as placing a significant financial burden on health-care resources. In Europe and North America, they are responsible for approximately 6% of all ... -
A blood-based prognostic biomarker in IBD
(BMJ, 2019-08)We have previously described a prognostic transcriptional signature in CD8 T cells that separates patients with IBD into two phenotypically distinct subgroups, termed IBD1 and IBD2. Here we sought to develop a blood-based ... -
Do patients live longer after THA and is the relative survival diagnosis-specific?
(Wolters Kluwer, 2018-06)Hip replacements are successful in restoring mobility, reducing pain, and improving quality of life. However, the association between THA and the potential for increased life expectancy (as expressed by mortality rate) is ... -
Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases
(Cell Press, 2019-08)Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by ... -
Practical management in Wolcott-Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
(Wiley, 2019-05)Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired ...