• Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity 

  Yaghootkar, Hanieh; Frayling, Timothy M. (HighWire, 2020-12)

  Leptin influences food intake by informing the brain about the status of body fat stores. Rare LEP mutations associated with congenital leptin deficiency cause severe early-onset obesity that can be mitigated by administering ...

• Altered DNA methylation profiles in blood from patients with sporadic Creutzfeldt-Jakob disease 

  Smith, Adam R.; Smith, R. G.; Lunnon, Katie (Springer, 2020-12)

  Prion diseases are fatal and transmissible neurodegenerative disorders caused by the misfolding and aggregation of prion protein. Although recent studies have implicated epigenetic variation in common neurodegenerative ...

• Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial 

  Stephens, Peter (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 

  Appelboam, Andrew; Knapp, Karen (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 

  De Franco, Elisa (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 ...

• Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome 

  Laver, T. W.; Caswell, R.; Wakeling, M. N.; Weedon, M. N.; Ellard, Sian; Flanagan, Sarah (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 

  Mill, Jonathan; Ballard, Clive; Jeffries, A. R.; Creese, Byron (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 

  Morgan, Noel; Richardson, S. J. (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 

  Johnson, M. B. (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.

• Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912 

  Caswell, Richard; Colclough, Kevin; Ellard, Sian (HighWire, 2020-10)

• Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis 

  Ferguson, Jane L.; Burrows, Susan R. J. (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 

  Yaghootkar, Hanieh (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 

  Colclough, Kevin; Ellard, Sian (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 

  Wakeling, Matthew (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 

  Timperley, Andrew John; Dieppe, P.; Wilson, Matthew J. (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 

  Statton, Sarah A. (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 

  Stokes, Oliver M. (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 

  Freathy, Rachel M. (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 

  Flanagan, Sarah; Hattersley, Andrew T.; De Franco, Elisa (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 ...

• Massive pulmonary embolism in patients with extreme bleeding risk: a case series on the successful use of ultrasound-assisted, catheter directed thrombolysis in a district general hospital 

  He, Jingzhou; Clayton, B.; Gibbons, Michael; Watkinson, Anthony (Springer, 2020-09-04)

  Massive pulmonary embolism (PE), characterised by profound arterial hypotension, is a life-threatening emergency with a 90-day mortality of over 50%. Systemic thrombolysis can significantly reduce the risk of death or ...

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