2019 RD&E publications

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 ...

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 ...

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)

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. ...

Rapid treatment of moderate to severe hypertension using a novel protocol in a single-centre, before and after interventional study

Bellenger, Nicholas G; Shore, Angela C; Sharp, Andrew S P (Nature, 2019-10)

Rapid treatment to target in hypertension may have beneficial effects on long-term outcomes. This has led to a new recommendation in the 2018 European hypertension guidelines for patients with grade II/III hypertension to ...