2020 RD&E publications
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A summary list of all RD&E research outputs published or issued in 2020
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Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness
(HighWire, 2020-02)Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer ... -
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 ... -
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 ... -
Outcome of weekly carboplatin-paclitaxel-based definitive chemoradiation in oesophageal cancer in patients not considered to be suitable for platinum-fluoropyrimidine-based treatment: a multicentre, retrospective review
(Elsevier, 2020-02)Although cisplatin-fluoropyrimidine-based definitive chemoradiotherapy (dCRT) is a standard of care for oesophageal cancer, toxicity is significant and limits its use in elderly and frail patients. Weekly carboplatin-pac ... -
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 ... -
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. ... -
Metaphyseal sleeves in revision total knee arthoplasty provide reliable fixation and excellent medium to long-term implant survivorship
(Elsevier, 2020-02)Addressing bone loss and securing implant fixation can be challenging in revision total knee arthroplasty (TKA). We present the results of a large series of revision TKAs using a metaphyseal sleeve. -
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 ... -
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 ... -
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 ... -
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.
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