All RD&E publications by year
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This community lists all the RD&E research outputs, collated by year of publication/issue. You can browse the collections, by year, on the left-hand side of the screen.
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Preexisting Comorbidities Predicting COVID-19 and Mortality in the UK Biobank Community Cohort
(Silverchair Information Systems, 2020-10-15)Background: Hospitalized COVID-19 patients tend to be older and frequently have hypertension, diabetes, or coronary heart disease, but whether these comorbidities are true risk factors (ie, more common than in the general ... -
Benign Prostatic Hyperplasia
(StatPearls Publishing, 2020-01)Benign prostatic hyperplasia (BPH) refers to the nonmalignant growth or hyperplasia of prostate tissue and is a common cause of lower urinary tract symptoms in men. Disease prevalence has been shown to increase with advancing ... -
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene
(Wolters Kluwer Health, Inc., 2020-06-10)Objective: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. ... -
British Gynaecological Cancer Society (BGCS) vulval cancer guidelines: Recommendations for practice
(Elsevier Science, 2020-09)The purpose of this guideline is to collate evidence and propose evidence-based guidelines for the diagnosis and management of adult patients with vulva carcinoma treated in the UK. Malignant melanoma may present via similar ... -
Colles' type distal radial fractures undergoing manipulation in the ED: a multicentre observational cohort study
(HighWire, 2020-08)Background: Colles' type fractures of the distal radius are one of the most commonly manipulated fractures in the ED. Local audit data suggest that a high proportion of these injuries undergo subsequent surgical fixation. ... -
ApoE e4e4 Genotype and Mortality With COVID-19 in UK Biobank
(Silverchair Information Systems, 2020-09-16) -
A Global, Prospective, Observational Study Measuring Disease Burden and Suffering in Patients with Ulcerative Colitis Using the Pictorial Representation of Illness and Self-Measure Tool
(Silverchair Information Systems, 2020-07-29)Background: The understanding the Impact of ulcerative COlitis aNd Its assoCiated disease burden on patients study [ICONIC] was a 2-year, global, prospective, observational study evaluating the cumulative burden of ulcerative ... -
Mapping UK mental health services for adults with attention-deficit/hyperactivity disorder: national survey with comparison of reporting between three stakeholder groups
(Cambridge University Press, 2020-07-29)Background: UK clinical guidelines recommend treatment of attention-deficit hyperactivity disorder (ADHD) in adults by suitably qualified clinical teams. However, young people with ADHD attempting the transition from ... -
Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
(Wiley, 2020-04-23)Advances in genomics and 18F-DOPA PET-CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal hyperinsulinism permits limited pancreatectomy with improved ... -
Mendelian randomization supports a causative effect of TSH on thyroid carcinoma
(Sheridan PubFactory, 2020-10)Evidence from observational studies suggest a positive association between serum thyroid-stimulating hormone (TSH) levels and differentiated thyroid carcinoma. However, the cause-effect relationship is poorly understood ... -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
(Nature Publishing Group, 2020-10)Purpose: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Methods: ... -
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy
(Wiley, 2020-07-15)Childhood dilated cardiomyopathy (DCM) is a leading cause of heart failure requiring cardiac transplantation and approximately 5% of cases result in sudden death. Knowledge of the underlying genetic cause can aid prognostication ... -
Randomized clinical trial of DTaP5-HB-IPV-Hib vaccine administered concomitantly with meningococcal serogroup C conjugate vaccines during the primary infant series
(Elsevier Science, 2020-07-31)Background: Concomitant administration of vaccines simplifies delivery. DTaP5-HB-IPV-Hib is a fully liquid, combination vaccine against 6 diseases. This study evaluated the compatibility of DTaP5-HB-IPV-Hib with 2 different ... -
Reporting Radical Cystectomy Outcomes Following Implementation of Enhanced Recovery After Surgery Protocols: A Systematic Review and Individual Patient Data Meta-analysis
(Elsevier Science, 2020-11)Context: Enhanced Recovery After Surgery (ERAS) is a perioperative approach to managing surgical patients. The impact of ERAS on radical cystectomy (RC) outcomes remains understudied. Objective: To review the literature ... -
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 ... -
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 ... -
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
(HighWire, 2020-07-06)Background: Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. ... -
Social cohesion, mental wellbeing and health-related quality of life among a cohort of social housing residents in Cornwall: a cross sectional study
(BioMed Central, 2020-06-22)Background: Research and policy have identified social cohesion as a potentially modifiable determinant of health and wellbeing that could contribute to more sustainable development. However, the function of social cohesion ... -
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
(Wiley, 2020-08)We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was ... -
Parental experiences of a diagnosis of neonatal diabetes and perceptions of newborn screening for glucose: a qualitative study
(HighWire, 2020-11-04)Neonatal diabetes presents <6 months of life but delays in recognition result in presentation with life-threatening hyperglycaemia/diabetic ketoacidosis. Early identification and rapid genetic diagnosis is crucial and ...
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