Browsing 2020 RD&E publications by Issue Date
Now showing items 1-20 of 189
-
An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells
(Nature Publishing Group, 2-05-22)Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic individuals, and its expression and signaling are regulated by T1D genetic risk variants and viral infections associated with T1D. We ... -
HLA-DQA1*05 carriage associated with development of anti-drug antibodies to infliximab and adalimumab in patients with Crohn's Disease
(Elsevier, 2020-01)Anti-tumor necrosis factor (anti-TNF) therapies are the most widely used biologic drugs for treating immune-mediated diseases, but repeated administration can induce the formation of anti-drug antibodies. The ability to ... -
Determination of inclusion depth in ex vivo animal tissues using surface enhanced deep Raman spectroscopy
(Wiley, 2020-01)This work presents recent developments in spatially offset and transmission Raman spectroscopy for noninvasive detection and depth prediction of a single SERS inclusion located deep inside ex vivo biological tissues. The ... -
Diagnostic genetic testing for monogenic diabetes and congenital hyperinsulinemia
(Springer, 2020-01)Monogenic diabetes and hyperinsulinism are genetically heterogeneous disorders. The determination of the genetic etiology defines the diagnostic subtype, predicts prognosis, and importantly can guide clinical management. ... -
Adherence and persistence to direct oral anticoagulants in atrial fibrillation: a population based study
(BMJ, 2020-01)Despite simpler regimens than vitamin K antagonists (VKAs) for stroke prevention in atrial fibrillation (AF), adherence (taking drugs as prescribed) and persistence (continuation of drugs) to direct oral anticoagulants are ... -
Misannotation of multiple-nucleotide variants risks misdiagnosis
(Wellcome, 2020-01)Multiple Nucleotide Variants (MNVs) are miscalled by the most widely utilised next generation sequencing analysis (NGS) pipelines, presenting the potential for missing diagnoses. These variants, which should be treated as ... -
The prognostic value of the neutrophil-to-lymphocyte ratio in patients with muscle-invasive bladder cancer treated with neoadjuvant chemotherapy and radical cystectomy
(Elsevier, 2020-01)The neutrophil-to-lymphocyte ratio (NLR) is an attractive marker because it is derived from routine bloodwork. NLR has shown promise as a prognostic factor in muscle invasive bladder cancer (MIBC) but its value in patients ... -
Introducing the endotype concept to address the challenge of disease heterogeneity in Type 1 diabetes
(American Diabetes Association, 2020-01)The clinical diagnosis of new-onset type 1 diabetes has, for many years, been considered relatively straightforward. Recently, however, there is increasing awareness that within this single clinical phenotype exists ... -
The contribution of frailty, cognition, activity of daily life and comorbidities on outcome in acutely admitted patients over 80 years in European ICUs: The VIP2 Study
(Springer, 2020-01)Premorbid conditions affect prognosis of acutely-ill aged patients. Several lines of evidence suggest geriatric syndromes need to be assessed but little is known on their relative effect on the 30-day survival after ICU ... -
Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: a prospective cohort study
(Elsevier, 2020-01)BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. -
Simultaneous or staged bilateral total hip arthroplasty? An analysis of complications in 14,460 patients using national data
(Elsevier, 2020-01)Simultaneous bilateral total hip arthroplasty (SimBTHA) is often performed in younger, fitter patients with bilateral hip disease. If patients are deemed not suitable for SimBTHA due to concurrent comorbidity, it may be ... -
MNS1 variant associated with situs inversus and male infertility
(Nature, 2020-01)Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a ... -
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes
(American Society for Clinical Investigation, 2020-01) -
Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5 year pediatric Swedish national cohort study
(American Diabetes Association, 2020-01)Identifying maturity-onset diabetes of the young (MODY) in pediatric populations close to diabetes diagnosis is difficult. Misdiagnosis and unnecessary insulin treatment are common. We aimed to identify the discriminatory ... -
Quantification of Thigh Muscle Volume in Children and Adolescents Using Magnetic Resonance Imaging
(Taylor & Francis, 2020-01-12)Estimating muscle volume (MV) using variable numbers of cross-sectional area (CSA) slices obtained from magnetic resonance imaging (MRI) introduces an error that is known in adults, but not in children and adolescents, ...