2019 RD&E publications
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A summary list of all RD&E research outputs published or issued in 2019
Recent Submissions
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
(Nature, 2019-08-07)Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants in CHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype ... -
How to achieve an accurate anatomical femoral tunnel technique in ACL reconstruction in the early years of your consultancy? femoral offset aimer technique: consistent and reproducible technique
(Thieme, 2019-08)Femoral tunnel malposition is the most common reason for failure of primary anterior cruciate ligament reconstruction. There are several methods to identify the anatomical location of femoral footprint. Femoral offset aimer ... -
Clinical examination remains crucial to the correct diagnosis: a case of severe peripheral oedema referred for investigation of heart failure
(BMJ, 2019-08)Hepatocellular carcinoma (HCC) uncommonly metastasises to the heart. We present a case of new onset bilateral leg swelling and suspected right heart failure in a previously fit and healthy man, which on further investigation ... -
Outcome of laparoscopic common bile duct exploration after failed endoscopic retrograde cholangiopancreatography: a comparative study.
(Mary Ann Liebert, 2019-11)Common bile duct stones (CBDS) are treated with endoscopic retrograde cholangiopancreatography (ERCP) followed by laparoscopic cholecystectomy (LC) or with the single-stage laparoscopic common bile duct exploration (LCBDE) ... -
Staphylococcus aureus colonization and acquisition of skin and soft tissue infection among Royal Marines recruits: a prospective cohort study
(Elsevier, 2019-07)Skin and soft tissue infections (SSTIs) are a serious health issue for military personnel. Of particular importance are those caused by methicillin-resistant Staphylococcus aureus and Panton-Valentine leucocidin (PVL)-positive ... -
Patella height as defined by patella-trochlear articulation on MRI scan-a systemic review of current evidence.
(Thieme, 2019-07)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 ... -
A HaemSTAR-led, UK-wide ‘flash-mob’ audit of intravenous immunoglobulin use in immune thrombocytopenia
(Clinical Medicine, 2019-06) -
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
(BioMed Central, 2019-07)A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate ... -
Algorithmic versus expert human interpretation of instantaneous wave-free ratio coronary pressure-wire pull back data
(Elsevier, 2019-07)The aim of this study was to investigate whether algorithmic interpretation (AI) of instantaneous wave-free ratio (iFR) pressure-wire pull back data would be noninferior to expert human interpretation. -
A middle aged man with back pain and heavy legs
(BMJ, 2019-07) -
Comparison of major adverse cardiac events between instantaneous wave-free ratio and fractional flow reserve-guided strategy in patients with or without type 2 diabetes: a secondary analysis of a randomized clinical trial
(JAMA, 2019-07)Invasive physiologic indices such as fractional flow reserve (FFR) and instantaneous wave-free ratio (iFR) are used in clinical practice. Nevertheless, comparative prognostic outcomes of iFR-guided and FFR-guided treatment ... -
Assessment of a home-based standing frame programme in people with progressive multiple sclerosis (SUMS): a pragmatic, multi-centre, randomised, controlled trial and cost-effectiveness analysis
(Elsevier, 2019-08)People severely impaired with progressive multiple sclerosis spend much of their day sitting, with very few options to improve motor function. As a result, secondary physical and psychosocial complications can occur. ... -
Computer-assisted design and manufacturing assists less experienced surgeons in achieving equivalent outcomes in cranial vault reconstruction
(Wolters Kluwer, 2019-10)The purpose of this study was to assess whether long-term outcomes were equivalent between computer-assisted design and manufacturing (CAD/CAM) -assisted cranial vault reconstruction performed by an inexperienced surgeon, ... -
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
(Nature, 2019-07)AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ... -
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review
(Wiley, 2019-12)The significant variation in the clinical behaviour of sporadic medullary thyroid carcinoma (sMTC) causes uncertainty when planning the management of these patients. Several tumour genetic and epigenetic markers have been ... -
Joint UK societies' 2019 consensus statement on renal denervation
(BMJ, 2019-10)Improved and durable control of hypertension is a global priority for healthcare providers and policymakers. There are several lifestyle measures that are proven to result in improved blood pressure (BP) control. Moreover, ...
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