Browsing 2020 RD&E publications by Title
Now showing items 225-244 of 450
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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 ... -
Knowledge, skills and attitudes of older people and staff about getting up from the floor following a fall: a qualitative investigation
(BioMed Central, 2020-10-06)Background: Falls are the most common reason for ambulance callouts resulting in non-conveyance. Even in the absence of injury, only half of those who fall can get themselves up off the floor, often remaining there over ... -
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
(Elsevier Science, 2020-08-06)Large copy-number variants (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease depends strongly on when and where the mutation occurred, i.e., germline versus somatic. We used ... -
Large epigenome-wide association study of childhood ADHD identifies peripheral DNA methylation associated with disease and polygenic risk burden
(Nature Publishing Group, 2020-01-21)Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated ... -
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 Variant
(Elsevier Science, 2020-10)Purpose: To describe patients with late-onset pseudoxanthoma elasticum (PXE) associated with a likely hypomorphic ABCC6 variant. Design: Retrospective observational case series. Methods: Clinical evaluation, multimodal ... -
Limit of detection of troponin discharge strategy versus usual care: randomised controlled trial
(BMJ, 2020-10)Introduction: The clinical effectiveness of a 'rule-out' acute coronary syndrome (ACS) strategy for emergency department patients with chest pain, incorporating a single undetectable high-sensitivity cardiac troponin ... -
LIVE@Home.Path-innovating the clinical pathway for home-dwelling people with dementia and their caregivers: study protocol for a mixed-method, stepped-wedge, randomized controlled trial
(BioMed Central, 2020-06-09)Background: The global health challenge of dementia is exceptional in size, cost and impact. It is the only top ten cause of death that cannot be prevented, cured or substantially slowed, leaving disease management, caregiver ... -
Logistic regression has similar performance to optimised machine learning algorithms in a clinical setting: application to the discrimination between type 1 and type 2 diabetes in young adults
(Springer Nature, 2020-06-04)Background: There is much interest in the use of prognostic and diagnostic prediction models in all areas of clinical medicine. The use of machine learning to improve prognostic and diagnostic accuracy in this area has ... -
Long-term comparison study of philtral ridge morphology with two different techniques of philtral reconstruction
(Elsevier Science, 2020-10)Cleft lip and/or cleft palate are the most common congenital craniofacial anomalies. Philtral ridge morphology is an important aesthetic component of unilateral cleft lip (UCL) repair. To this end, we have developed two ... -
Long-term evaluation of open-label pimavanserin safety and tolerability in Parkinson's disease psychosis
(Elsevier Science, 2020-08)Introduction: Pimavanserin is a selective 5-HT2A inverse agonist/antagonist approved for treating hallucinations and delusions associated with Parkinson's disease psychosis (PDP). Results from short-term, placebo-controlled ... -
Long-term survival of the Cemented Exeter Universal Stem in patients 50 years and younger: an update on 130 hips
(Elsevier, 2020-04)There is variable evidence regarding survivorship beyond 20 years of total hip arthroplasties in young patients. We report the long-term results of the Exeter cemented hip system in patients ≤50 years at minimum of 20 years. -
Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
(BioMed Central, 2020-06-24)Background: Hypoglycaemia due to hyperinsulinism (HI) is the commonest cause of severe, recurrent hypoglycaemia in childhood. Cohort outcomes of HI remain to be described and whilst previous follow up studies have focused ... -
Lower cognitive baseline scores predict cognitive training success after 6 months in healthy older adults: Results of an online RCT
(Wiley, 2020-09)Background: Identifying predictors for general cognitive training (GCT) success in healthy older adults has many potential uses, including aiding intervention and improving individual dementia risk prediction, which are ... -
Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits
(Public Library of Science, 2020-08-14)Genetic studies have recently highlighted the importance of fat distribution, as well as overall adiposity, in the pathogenesis of obesity-associated diseases. Using a large study (n = 1,288) from 4 independent cohorts, ... -
Major surgery induces acute changes in measured DNA methylation associated with immune response pathways
(Nature Publishing Group, 2020-04-01)Surgery is an invasive procedure evoking acute inflammatory and immune responses that can influence risk for postoperative complications including cognitive dysfunction and delirium. Although the specific mechanisms driving ... -
Making connections: Social identification with new treatment groups for lifestyle management of severe obesity
(Wiley, 2020-04-08)Groups are regularly used to deliver healthcare services, including the management of obesity, and there is growing evidence that patients' experiences of such groups fundamentally shape treatment effects. This study ... -
Management and care of patients with vulval conditions
(The British Dermatological Nursing Group, 2020-09) -
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 ... -
Managing nonspecific abdominal pain in children and young people
(HighWire, 2020-11-30)