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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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
(Wiley, 2020-02-01)We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. ... -
Presentation of newly diagnosed type 1 diabetes in children and young people during COVID-19: a national UK survey
(BMJ, 2020-11-02)In the UK, there have been reports of significant reductions in paediatric emergency attendances and visits to the general practitioners due to COVID-19. A national survey undertaken by the UK Association of Children's ... -
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
(Wiley, 2020-12-19)OBJECTIVE: Diagnostic germline RET analysis is offered to all patients with a diagnosis of medullary thyroid carcinoma (MTC), or other conditions associated with multiple endocrine neoplasia type 2 (MEN2) in the United ... -
NIMO-CKD-UK: a real-world, observational study of iron isomaltoside in patients with iron deficiency anaemia and chronic kidney disease.
(BioMed Central, 2020-12-10)BACKGROUND: Intravenous iron is often used to treat iron deficiency anaemia in non-dialysis chronic kidney disease (ND-CKD), but the optimal dosing regimen remains unclear. We evaluated the impact of high- versus low-dose ... -
Giant hiatus hernia presenting as a chronic cough masking a sinister diagnosis.
(BMJ, 2020-12-10)We present a case of an 82-year-old gentleman with an 18-month history of productive cough. Urgent CT scan of the thorax revealed type 1 hiatus hernia (HH). The patient was managed conservatively with lifestyle modifications ... -
Hierarchical regression of ASA prediction model in predicting mortality prior to performing emergency laparotomy a systematic review.
(Elsevier, 2020-12-01)BACKGROUND: In light of increasing litigations around performing emergency surgery, various predictive tools are used for prediction of mortality prior to surgery. There are many predictive tools reported in literature, ... -
Zanubrutinib for the treatment of MYD88 wild-type Waldenström macroglobulinemia: a substudy of the phase 3 ASPEN trial.
(American Society of Hematology, 2020-12-08)Patients with Waldenström macroglobulinemia (WM) lacking activating mutations in the MYD88 gene (MYD88WT) have demonstrated relatively poor outcomes to ibrutinib monotherapy, with no major responses reported in a phase 2 ... -
TriMaster: randomised double-blind crossover study of a DPP4 inhibitor, SGLT2 inhibitor and thiazolidinedione as second-line or third-line therapy in patients with type 2 diabetes who have suboptimal glycaemic control on metformin treatment with or without a sulfonylurea - a MASTERMIND study protocol
(BMJ, 2020-12-01)Introduction Pharmaceutical treatment options for patients with type 2 diabetes mellitus (T2DM) have increased to include multiple classes of oral glucose-lowering agents but without accompanying guidance on which of ... -
Reversible optic neuropathy secondary to metronidazole.
(BMJ, 2020-12-17)Metronidazole is a nitroimidazole antibiotic used in treating anaerobic bacteria and protozoal infections. It was first licensed for the treatment of Trichomonas vaginalis but is now used in the management of various ... -
Measuring infliximab and adalimumab drug and antibodies in Crohn's disease and ulcerative colitis
(0, 2020-08-26)The anti-TNF therapies infliximab and adalimumab have revolutionized the treatment of inflammatory bowel disease, being very effective in many patients. Some patients experience problems such as loss of response, which is ... -
Patella Height as Defined by Patella-Trochlear Articulation on MRI Scan-A Systemic Review of Current Evidence.
(Thieme, 2020-12-01)The objective of this study is to investigate what are the normal values, cutoff values, and optimal method of magnetic resonance imaging (MRI) scan for patella height focusing on patella-trochlear index (PTI). Electronic ... -
The application of kinesiology tape as a tactile feedback for management of lower larynx position: a pilot study
(2020-12-04)Kinesiology tape (KT) therapy has successfully been incorporated into speech pathology clinical practice for treatment of myofunctional orofacial disorders. The elastic property of the tape allowed for support without ... -
All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes.
(Wellcome, 2021-03-23)Background: Using genetic scores for fasting plasma glucose (FPG GS) and type 2 diabetes (T2D GS), we investigated whether the fasting, 1-hour and 2-hour glucose thresholds from the WHO 2013 criteria for gestational ... -
Extramammary Borderline Phyllodes Tumor Presenting as an Umbilical Mass.
(SAGE, 2020-12-21)Phyllodes tumors (PTs) represent a spectrum of rare, fibroepithelial neoplasms of the breast, which can be subcategorized as benign, borderline, or malignant based on their histological appearance. Accessory breast tissue ... -
Contrast-associated acute kidney injury.
(Elsevier, 2020-12-01)Acute kidney injury (AKI) is common, occurring in more than 15% of patients admitted to hospital as an emergency.1 AKI often indicates severe systemic dysfunction and can lead to chronic kidney disease (CKD) and increased ... -
Retrospective analysis of two weeks wait referrals to the head and neck outpatient clinics: trend and outcome of five years data
(Elsevier, 2020-12-01)Introduction: The Royal Devon and Exeter Hospital is a head and neck cancer. Increasing pressures on the head and neck oncology team led us to further investigate the rise in both referrals and number of cancers. -
Getting it right first time
(Elsevier, 2020-12-01)Following a recent review of practice by a GIRFT team at our unit, the subsequent speciality feedback report, assessing data between April 2014 and March 2016, highlighted a higher than average rate of 30 and 90 day ... -
Urgent Arthroplasty Interventions During the COVID-19 Pandemic: Operating Risks in Low-Prevalence Areas.
(PubMed Central, 2020-12-21)Background and objective Orthopaedic services have reorganised their delivery of care in response to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. In this study, we aimed to share our operating ... -
Surgical Fluid Prescribing: When Are the Last Orders
(PubMed Central, 2020-11-01)Introduction Inappropriate fluid prescriptions result in excess morbidity and mortality in surgical patients. The majority of prescriptions are done by foundation year one doctors (FY1s) despite repeated evidence of poor ...
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