Browsing 2021 RD&E publications by Title

Now showing items 1-20 of 450

    • 100 years of insulin: celebrating the past, present and future of diabetes therapy 

      Sims, E. K.; Carr, A. L. J.; Oram, R. A.; DiMeglio, L. A.; Evans-Molina, C. (Nature, 2021-07-15)
      The year 2021 marks the centennial of Banting and Best's landmark description of the discovery of insulin. This discovery and insulin's rapid clinical deployment effectively transformed type 1 diabetes from a fatal diagnosis ...

    • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report 

      Smedley, D.; Smith, K. R.; Martin, A.; Thomas, E. A.; McDonagh, E. M.; Cipriani, V.; Ellingford, J. M.; Arno, G.; Tucci, A.; Vandrovcova, J.; Chan, G.; Williams, H. J.; Ratnaike, T.; Wei, W.; Stirrups, K.; Ibanez, K.; Moutsianas, L.; Wielscher, M.; Need, A.; Barnes, M. R.; Vestito, L.; Buchanan, J.; Wordsworth, S.; Ashford, S.; Rehmström, K.; Li, E.; Fuller, G.; Twiss, P.; Spasic-Boskovic, O.; Halsall, S.; Floto, R. A.; Poole, K.; Wagner, A.; Mehta, S. G.; Gurnell, M.; Burrows, N.; James, R.; Penkett, C.; Dewhurst, E.; Gräf, S.; Mapeta, R.; Kasanicki, M.; Haworth, A.; Savage, H.; Babcock, M.; Reese, M. G.; Bale, M.; Baple, E.; Boustred, C.; Brittain, H.; de Burca, A.; Bleda, M.; Devereau, A.; Halai, D.; Haraldsdottir, E.; Hyder, Z.; Kasperaviciute, D.; Patch, C.; Polychronopoulos, D.; Matchan, A.; Sultana, R.; Ryten, M.; Tavares, A. L. T.; Tregidgo, C.; Turnbull, C.; Welland, M.; Wood, S.; Snow, C.; Williams, E.; Leigh, S.; Foulger, R. E.; Daugherty, L. C.; Niblock, O.; Leong, I. U. S.; Wright, C. F.; Davies, J.; Crichton, C.; Welch, J.; Woods, K.; Abulhoul, L.; Aurora, P.; Bockenhauer, D.; Broomfield, A.; Cleary, M. A.; Lam, T.; Dattani, M.; Footitt, E.; Ganesan, V.; Grunewald, S.; Compeyrot-Lacassagne, S.; Muntoni, F.; Pilkington, C.; Quinlivan, R.; Thapar, N.; Wallis, C.; Wedderburn, L. R.; Worth, A.; Bueser, T.; Compton, C.; Deshpande, C.; Fassihi, H.; Haque, E.; Izatt, L.; Josifova, D.; Mohammed, S.; Robert, L.; Rose, S.; Ruddy, D.; Sarkany, R.; Say, G.; Shaw, A. C.; Wolejko, A.; Habib, B.; Burns, G.; Hunter, S.; Grocock, R. J.; Humphray, S. J.; Robinson, P. N.; Haendel, M.; Simpson, M. A.; Banka, S.; Clayton-Smith, J.; Douzgou, S.; Hall, G.; Thomas, H. B.; O'Keefe, R. T.; Michaelides, M.; Moore, A. T.; Malka, S.; Pontikos, N.; Browning, A. C.; Straub, V.; Gorman, G. S.; Horvath, R.; Quinton, R.; Schaefer, A. M.; Yu-Wai-Man, P.; Turnbull, D. M.; McFarland, R.; Taylor, R. W.; O'Connor, E.; Yip, J.; Newland, K.; Morris, H. R.; Polke, J.; Wood, N. W.; Campbell, C.; Camps, C.; Gibson, K.; Koelling, N.; Lester, T.; Németh, A. H.; Palles, C.; Patel, S.; Roy, N. B. A.; Sen, A.; Taylor, J.; Cacheiro, P.; Jacobsen, J. O.; Seaby, E. G.; Davison, V.; Chitty, L.; Douglas, A.; Naresh, K.; McMullan, D.; Ellard, S.; Temple, I. K.; Mumford, A. D.; Wilson, G.; Beales, P.; Bitner-Glindzicz, M.; Black, G.; Bradley, J. R.; Brennan, P.; Burn, J.; Chinnery, P. F.; Elliott, P.; Flinter, F.; Houlden, H.; Irving, M.; Newman, W.; Rahman, S.; Sayer, J. A.; Taylor, J. C.; Webster, A. R.; Wilkie, A. O. M.; Ouwehand, W. H.; Raymond, F. L.; Chisholm, J.; Hill, S.; Bentley, D.; Scott, R. H.; Fowler, T.; Rendon, A.; Caulfield, M. (Massachusetts Medical Society, 2021-11-11)
      BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care ...

    • 12 Being Non-Frail and Free From Cardiovascular Disease Reduces COVID-19 Risk in 269,164 Older UK Biobank Participants 

      Masoli, J; Atkins, J; Delgado, J; Pilling, L; Melzer, D (Oxford University Press, 2021-03-01)
      Older adults are at increased risk of COVID-19, resulting in public health shielding measures for all adults over 70 in the UK. Frailty has been proposed for risk stratification in COVID-19 with limited evidence. Cardiovascular ...

    • 14-month old boy with abrupt-onset petechiae and bruising 

      Chanchlani, Neil; Rack, Dan; Hossain, Upal; Leigh, Andrea (BMJ, 2021-02-01)
      A healthy 14-month-old boy presented with a 2-day history of widespread petechiae and bruising. Parents were originally from East Asia, and the boy was born in the UK. He was clinically well with no organomegaly. He had a ...

    • 325 Pretibial Injury and 1 Year Mortality 

      Peberdy, D (Wiley, 2021-10-12)

    • 52 I’m on the Floor and Can’t Get up and it’s Really Annoying: A Qualitative Investigation of Patient and Staff Perceptions of Options for Getting up From the Floor Following A Fall 

      Swancutt, D; Hope, S V; Kent, B; Robinson, M; Goodwin, V (Oxford University Press, 2021-03-01)
      Falls are the most common reason for ambulance call-outs resulting in non-conveyance. Even in the absence of injury, only half of those who have fallen can get themselves up off the floor. Many remain there for over an ...

    • 601 The Effect of the COVID-19 Pandemic on Hip Fracture Mortality in The South West of England 

      Spolton-Dean, C; Kent, B; Ball, T; Middleton, R; Marusza, C; Hinsley, H; King, A; Ayeko, S (Wiley, 2021-09-06)

    • A 2021 consensus statement on osteotomies around the knee by the UK Knee Osteotomy consensus Group (KOG) 

      Snow, M.; Jermain, P.; Mandalia, V.; Murray, J.; Khakha, R.; McNicholas, M.; Dawson, M. (Elsevier, 2021-09-22)
      BACKGROUND: There are significant deficiencies in the evidence base of modern-day osteotomy which result in significant variation in practice between surgeons. The purpose of this statement was to develop a consensus ...

    • A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder 

      Ammous, Z.; Rawlins, L. E.; Jones, H.; Leslie, J. S.; Wenger, O.; Scott, E.; Deline, J.; Herr, T.; Evans, R.; Scheid, A.; Kennedy, J.; Chioza, B. A.; Ames, R. M.; Cross, H. E.; Puffenberger, E. G.; Harries, L.; Baple, E. L.; Crosby, A. H. (PLoS One, 2021-09-01)
      SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic ...

    • A comparison of surgical practice and operative outcomes between retroperitoneal and transperitoneal laparoscopic nephrectomies – 6 years of data from the BAUS Nephrectomy database 

      Jenkins, James; Foy, Christopher; Davenport, Kim
      Objectives:While the choice of surgical approach for laparoscopic nephrectomy is broadly split between transperitoneal and retroperitoneal options, the evidence for the impact of this decision on perioperative outcomes is ...

    • A dosimetric study to improve the quality of nodal radiotherapy in breast cancer 

      Welgemoed, C.; Coughlan, S.; McNaught, P.; Gujral, D.; Riddle, P. (British Institute of Radiology, 2021-08-13)
      OBJECTIVES: Field-based planning for regional nodal breast radiotherapy (RT) used to be standard practice. This study evaluated a field-based posterior axillary boost (PAB) and two forward-planned intensity-modulated RT ...

    • A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor 

      Green, Harry D.; Jones, Alistair; Evans, Jonathan P.; Wood, Andrew R.; Beaumont, Robin N.; Tyrrell, Jessica; Frayling, Timothy M.; Smith, Christopher; Weedon, Michael N. (PLoS One, 2021-06-10)
      Frozen shoulder is a painful condition that often requires surgery and affects up to 5% of individuals aged 40–60 years. Little is known about the causes of the condition, but diabetes is a strong risk factor. To begin to ...

    • A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report 

      Shangaris, Panicos; Ho, Alison; Marnerides, Andreas; George, Simi; AlAdnani, Mudher; Yau, Shu; Jansson, Mattias; Hoyle, Jacqueline; Ahn, Joo Wook; Ellard, Sian; Irving, Melita; Wellesley, Diana; Pasupathy, Dharmintra; Holder-Espinasse, Muriel (Springer, 2021-02-26)
      Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) ...

    • A meta-analysis of epigenome-wide association studies in Alzheimer's disease highlights novel differentially methylated loci across cortex 

      Smith, R. G.; Pishva, E.; Shireby, G.; Smith, A. R.; Roubroeks, J. A. Y.; Hannon, E.; Wheildon, G.; Mastroeni, D.; Gasparoni, G.; Riemenschneider, M.; Giese, A.; Sharp, A. J.; Schalkwyk, L.; Haroutunian, V.; Viechtbauer, W.; van den Hove, D. L. A.; Weedon, M.; Brokaw, D.; Francis, P. T.; Thomas, A. J.; Love, S.; Morgan, K.; Walter, J.; Coleman, P. D.; Bennett, D. A.; De Jager, P. L.; Mill, J.; Lunnon, K. (Nature, 2021-06-10)
      Epigenome-wide association studies of Alzheimer's disease have highlighted neuropathology-associated DNA methylation differences, although existing studies have been limited in sample size and utilized different brain ...

    • A modified Delphi process to establish research priorities in hernia surgery 

      Scrimgeour, D. S. G.; Allan, M.; Knight, S. R.; East, B.; Blackwell, S.; Dames, N.; Laidlaw, L.; Light, D.; Horgan, L.; Smart, N. J.; de Beaux, A.; Wilson, M. S. J. (Springer, 2021-10-21)
      BACKGROUND: Abdominal wall hernia repair is one of the most commonly performed surgical procedures worldwide, yet despite this, there remains a lack of high-quality evidence to support best management. The aim of the study ...

    • A multicenter randomized controlled trial indicates that paclitaxel-coated balloons provide no benefit for arteriovenous fistulas 

      Karunanithy, Narayan; Robinson, Emily J.; Ahmad, Farhan; Burton, James O.; Calder, Francis; Coles, Simon; Das, Neelanjan; Dorling, Anthony; Forman, Colin; Jaffer, Ounali; Lawman, Sarah; Lakshminarayan, Raghuram; Lewlellyn, Rhys; Peacock, Janet L.; Ramnarine, Raymond; Mesa, Irene Rebollo; Shaikh, Shoaib; Simpson, James; Steiner, Kate; Suckling, Rebecca; Szabo, Laszlo; Turner, Douglas; Wadoodi, Ashar; Wang, Yanzhong; Weir, Graeme; Wilkins, C. Jason; Gardner, Leanne M.; Robson, Michael G. (Elsevier, 2021-03-27)
      The role of paclitaxel-coated balloons has been established in the coronary and peripheral arterial circulations with recent interest in the use of paclitaxel-coated balloons to improve patency rates following angioplasty ...

    • A Multicentre Retrospective Analysis of Toxicity in 6-weekly Versus 3-weekly Pembrolizumab 

      Rowe, Michael; Eastlake, Leonie; Norris, Timothy; Farley, Timothy; Talbot, Toby (Elsevier, 2021-05-01)
      Pembrolizumab is an anti-programmed cell death protein 1 immune checkpoint inhibitor with a dosing schedule of 200 mg 3 weekly (q3w). Dose of 400 mg 6 weekly (q6w) was approved based on simulation of dose/exposure relationships ...

    • A national retrospective study of the association between serious operational problems and COVID-19 specific intensive care mortality risk 

      Wilde, H.; Dennis, J. M.; McGovern, A. P.; Vollmer, S. J.; Mateen, B. A. (PLoS One, 2021-07-29)
      OBJECTIVES: To describe the relationship between reported serious operational problems (SOPs), and mortality for patients with COVID-19 admitted to intensive care units (ICUs). DESIGN: English national retrospective cohort ...

    • A nationwide trend away from radical prostatectomy for Gleason Grade Group 1 prostate cancer 

      John, J. B.; Pascoe, J.; Fowler, S.; Walton, T.; Johnson, M.; Challacombe, B.; Dickinson, A. J.; Aning, J.; McGrath, J. S. (Wiley, 2021-11-21)

    • A New Era in Epicardial Access for the Ablation of Ventricular Arrhythmias: The Epi-Co(2) Registry 

      Juliá, Justo; Bokhari, Fayez; Uuetoa, Hasso; Derejko, Pawel; Traykov, Vassil B.; Gwizdala, Adrian; Sebag, Frederic A.; Hegbom, Finn; Anfinsen, Ole-Gunnar; AlQubbany, Atif; Bardyszewski, Aleksander; Gul, Enes Elvin; Geleva, Valeri; Kirubakaran, Senthil; Podd, Steven; Babu, Girish Ganesha; Balasubramaniam, Richard; Lim, Phang Boon; Wright, Matthew; Veasey, Rick; Mann, Ian; Hildick-Smith, David; McCready, James; Silberbauer, John (JACC, 2021-01-01)
      OBJECTIVES: This multicenter registry aimed to assess the reproducibility and safety of intentional coronary vein exit and carbon dioxide insufflation to facilitate subxiphoid epicardial access in the setting of ventricular ...