• Cost effectiveness of dementia care mapping in care home settings: evaluation of a randomised controlled trial 

  Ballard, Clive (Springer, 2019-11)

  Behaviours such as agitation impact on the quality of life of care-home residents with dementia and increase healthcare use. Interventions to prevent these behaviours have little evidence supporting their effectiveness or ...

• CAKUT and autonomic dysfunction caused by acetylcholine receptor mutations 

  Ellard, Sian (Cell Press, 2019-12)

  Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in the first three decades of life, and in utero obstruction to urine flow is a frequent cause of secondary ...

• Association between Hepatitis C and B viruses and head and neck squamous cell carcinoma 

  Fussey, Jonathan (Elsevier, 2019-12)

  Hepatitis B and C viruses are known to be carcinogenic and have been associated with the development of non-Hodgkin's lymphoma as well as hepatocellular carcinoma. The incidence of head and neck cancer is increasing ...

• Estimating the effectiveness and cost-effectiveness of establishing additional endovascular thrombectomy stroke centres in England: a discrete event simulation 

  James, Martin A. (Biomed Central, 2019-11)

  We have previously modelled that the optimal number of comprehensive stroke centres (CSC) providing endovascular thrombectomy (EVT) in England would be 30 (net 6 new centres). We now estimate the relative effectiveness and ...

• Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction 

  Castle, Bruce (Nature, 2019-11)

  Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by ...

• A service evaluation between 2 week wait (2WW) skin cancer referrals via Teledermatology and the standard face-to-face pathway at a teaching hospital 

  Hunt, William T N (Wiley, 2019-11)

• GWAS identifies risk locus for erectile dysfunction and implicates hypothalamic neurobiolgy and diabetes in etiology 

  Wood, Andrew R; Weedon, Michael N; Murray, Anna (Cell Press, 2019-01)

  Erectile dysfunction (ED) is a common condition affecting more than 20% of men over 60 years, yet little is known about its genetic architecture. We performed a genome-wide association study of ED in 6,175 case subjects ...

• The prognostic value of the neutrophil-to-lymphocyte ratio in patients with muscle-invasive bladder cancer treated with neoadjuvant chemotherapy and radical cystectomy 

  Campain, Nicholas J; McGrath, John S; Aning, Jonathan (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 ...

• PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels 

  Baple, Emma (Nature, 2019-11)

• Failure to return to preinjury activity level after hamstring anterior cruciate ligament reconstruction: factors involved and considerations in goal setting 

  Kosy, Jonathan D; Philips, Jonathan R P; Edordu, Adaeze; Pankhania, Rahul; Schranz, Peter J; Mandalia, Vipul (Wolters Kluwer, 2019-11)

  Recent interest in the return to sports, following anterior cruciate ligament reconstruction, has focused on the influence of psychological factors. However, many factors contribute to this endpoint. This study aimed to ...

• Training opportunities in thoracic ultrasound for respiratory trainees: are current guidelines practical? 

  Batalla-Duran, Elizabeth (BMJ, 2019-10)

  Respiratory trainees in the UK face challenges in meeting current Royal College of Radiologists (RCR) Level 1 training requirements for thoracic ultrasound (TUS) competence, specified as attending 'at least one session per ...

• Getting home for haemodialysis: sharing experience to improve the patient experience 

  Dobbs, David (MAG Online Library, 2019-09)

  Home haemodialysis has many advantages when compared with conventional in-centre haemodialysis, but its uptake remains lower than predicted. This article explores the reasons for this low uptake, and the work of a Special ...

• Misannotation of multiple-nucleotide variants risks misdiagnosis 

  Colclough, Kevin; Parish, Andrew; Ellard, Sian; Baple, Emma L (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 ...

• Methods for quick, accurate and cost-effective determination of the Type 1 diabetes genetic risk score (T1D-GRS) 

  Wood, Andrew R; Weedon, Michael N; Oram, Richard A (De Grutyer, 2019-10-30)

• 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 

  Dorey, Nicole (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 ...

• Problem with p values: why p values do not tell you if your treatment is likely to work 

  Price, Robert; Bethune, Rob; Massey, Lisa (BMJ, 2020-01)

• Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy 

  Baptista, Julia; Ellard, Sian (Wiley, 2019-10-29)

  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. ...

• Blinded physiological assessment of residual ischemia after successful angiographic percutaneous coronary intervention: the DEFINE PCI study 

  Sharp, Andrew S P (Elsevier, 2019-10)

  This study sought to evaluate the incidence and causes of an abnormal instantaneous wave-free ratio (iFR) after angiographically successful percutaneous coronary intervention (PCI).

• Sex differences in instantaneous wave-free ratio or fractional flow reserve-guided revascularization strategy 

  Sharp, Andrew S P (Elsevier, 2019-10)

  This study sought to evaluate sex differences in procedural characteristics and clinical outcomes of instantaneous wave-free ratio (iFR)- and fractional flow reserve (FFR)-guided revascularization strategies.

• Astrocyte senescence may drive alterations in GFAPα, CDKN2A p14ARF, and TAU3 transcript expression and contribute to cognitive decline 

  Holley, Janet E; Gutowski, Nicholas J (Springer, 2019-10)

  The accumulation of senescent cells in tissues is causally linked to the development of several age-related diseases; the removal of senescent glial cells in animal models prevents Tau accumulation and cognitive decline. ...

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