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Prophylactic radiotherapy for the prevention of procedure-tract metastases after surgical and large-bore pleural procedures in malignant pleural mesothelioma (SMART): a multicentre, open-label, phase 3, randomised controlled trial.
(Elsevier, 2016-06-23)The use of prophylactic radiotherapy to prevent procedure-tract metastases (PTMs) in malignant pleural mesothelioma remains controversial, and clinical practice varies worldwide. We aimed to compare prophylactic radiotherapy ... -
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies.
(Wolters Kluwer, 2018-04)To identify the genetic cause of disease in 2 previously unreported families with forms of distal hereditary motor neuropathies (dHMNs). -
Adjunctive rifampicin for Staphylococcus aureus bacteraemia (ARREST): a multicentre, randomised, double-blind, placebo-controlled trial.
(Elsevier, 2017-12-14)Staphylococcus aureus bacteraemia is a common cause of severe community-acquired and hospital-acquired infection worldwide. We tested the hypothesis that adjunctive rifampicin would reduce bacteriologically confirmed ... -
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
(BioMed Central, 2017-07-12)Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the ... -
The Value of Coenzyme Q10 Determination in Mitochondrial Patients.
(MDPI, 2017-03-24)Coenzyme Q10 (CoQ) is a lipid that is ubiquitously synthesized in tissues and has a key role in mitochondrial oxidative phosphorylation. Its biochemical determination provides insight into the CoQ status of tissues and may ... -
Paediatric procedural sedation using ketamine in a UK emergency department: a 7 year review of practice.
(Oxford Journals, 2016-02-17)Ketamine is growing in popularity for procedural sedation in the paediatric population, yet safety concerns remain. We performed a retrospective review of practice and outcomes of paediatric ketamine sedation using the ... -
Tests aiding diagnosis of monogenic diabetes
(Wiley, 2017-07-10) -
Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores
(American Society of Clinical Oncology, 2017-04)Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge- ... -
Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom
(Nature, 2016-02-18)Purpose: To ascertain whether and how recontacting occurs in the United Kingdom. Method: A Web-based survey was administered online between October 2014 and July 2015. A link to the survey was circulated via an e-mail ...