University of Exeter Medical School
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Institute of Health Research [1123]
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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report
(BioMed Central, 2018-02-20)BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ... -
Is it safe to go back into the water? A systematic review and meta-analysis of the risk of acquiring infections from recreational exposure to seawater (article)
(International Journal of Epidemiology, 2018-02-26)Background: Numerous illnesses are associated with bathing in natural waters, although it is assumed that the risk of illness among bathers exposed to relatively clean waters found in high-income countries is negligible. ... -
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
(Lippincott, Williams & Wilkins, 2018-03-03)Objective: To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). Methods: The first family comprises individuals affected by dHMN type V, ... -
The effect of a training programme on school nurses' knowledge, attitudes, and depression recognition skills: The QUEST cluster randomised controlled trial.
(Elsevier, 2018)Background Mental health problems in children and young people are a vital public health issue. Only 25% of British school children with diagnosed mental health problems have specialist mental health services contact; ... -
C-peptide decline in type 1 diabetes has two phases: an initial exponential fall and a subsequent stable phase
(American Diabetes Association, 2018)OBJECTIVE: The decline in C-peptide in the five years after diagnosis of Type 1 diabetes has been well studied, but little is known about the longer-term trajectory. We aimed to examine the association between log-transformed ... -
Prevalence and architecture of de novo mutations in developmental disorders.
(Nature Publishing Group, 2017-01-25)The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing ... -
A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure
(Elsevier (Cell Press), 2018-04-10)Fibroblast growth factor 21 (FGF21) is a hormone that has insulin-sensitizing properties. Some trials of FGF21 analogs show weight loss and lipid-lowering effects. Recent studies have shown that a common allele in the FGF21 ... -
Initiation and slow propagation of epileptiform activity from ventral to dorsal medial entorhinal cortex is constrained by an inhibitory gradient.
(Wiley, 2018-03-31)The medial entorhinal cortex (mEC) has an important role in the generation and propagation of seizure activity. The organisation of the mEC is such that a number of dorso-ventral relationships exist in neurophysiological ... -
Towards co‐designing active ageing strategies: A qualitative study to develop a meaningful physical activity typology for later life
(Wiley Open Access, 2018-04-06)Background Physical activity levels decline in later life despite the known benefits for physical, cognitive and mental health. Older people find it difficult to meet activity targets; therefore, more realistic and ... -
Influence of luminescent graphene quantum dots on trypsin activity
(Dove Medical Press / American Society for Nanomedicine, 2018-03-15)Background: Protein-graphene interactions have the potential to play a pivotal role in the future directions of nanomedicine. These interactions lead to diverse processes such as generation of protein coronas, nano-bio ... -
A high-sensitivity electrochemiluminescence-based ELISA for the measurement of the oxidative stress biomarker, 3-nitrotyrosine, in human blood serum and cells
(Elsevier, 2018-03-16)The generation of 3-nitrotyrosine, within proteins, is a post-translational modification resulting from oxidative or nitrative stress. It has been suggested that this modification could be used as a biomarker for inflammatory ... -
How lack of information hampers decision making in ophthalmology
(Mark Allen Healthcare, 2017-01-09)Introduction: Demonstration of cost-effectiveness is an established hurdle for new treatments and technologies. However, evidence synthesis, including simulation modelling, can be very difficult in the absence of good ... -
A structured literature review of simulation modelling applied to Emergency Departments: Current patterns and emerging trends
(Elsevier, 2018-01-31)The public importance, wait-for-treatment ethos and clear geographic layout of Emergency Departments (EDs) has contributed to them being one of the most commonly modelled systems in healthcare Operational Research (OR). ... -
Systematic review identifies six metrics and one method for assessing literature search effectiveness but no consensus on appropriate use
(Elsevier, 2018-03-08)OBJECTIVE: To identify the metrics or methods used by researchers to determine the effectiveness of literature searching where supplementary search methods are compared to bibliographic database searching. We also aimed ... -
Approaches to modelling the cost-effectiveness of interventions for heart failure: a systematic review
(ISPOR, 2017-11)OBJECTIVES: To review modelling methods used to assess the cost-effectiveness of interventions for heart failure (HF). METHODS: A systematic search of the literature up to September 2016 across Medline, Embase, Cochrane ... -
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
(Nature Publishing Group, 2016-08-01)Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable ... -
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
(Nature Publishing Group, 2018-01-11)PurposeGiven the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new ... -
Delayed Cryptochrome Degradation Asymmetrically Alters the Daily Rhythm in Suprachiasmatic Clock Neuron Excitability.
(Society for Neuroscience, 2017-08-16)Suprachiasmatic nuclei (SCN) neurons contain an intracellular molecular circadian clock and the Cryptochromes (CRY1/2), key transcriptional repressors of this molecular apparatus, are subject to post-translational modification ... -
Circadian regulation of mouse suprachiasmatic nuclei neuronal states shapes responses to orexin.
(Wiley, 2016-12-17)Our knowledge of how circadian and homeostatic brain circuits interact to temporally organize physiology and behavior is limited. Progress has been made with the determination that lateral hypothalamic orexin (OXA) neurons ...