Now showing items 1-20 of 89

    • 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 ...
    • A comparative study of treadmill tests and heel raising exercise for peripheral arterial disease 

      Amirhamzeh, M. M.; Chant, H. J.; Rees, J. L.; Hands, L. J.; Powell, R. J.; Campbell, W. B. (Elsevier, 1997-03-01)
      OBJECTIVES: This two part study validated a 1 min treadmill exercise test and compared this with simple heel raising exercise. METHODS: In an initial study of 24 claudicants (aged 43-79, median 63 years), ankle pressures ...
    • A cost consequence study of the impact of a dermatology-trained practice nurse on the quality of life of primary care patients with eczema and psoriasis 

      Kernick, D.; Cox, A.; Powell, R.; Reinhold, D.; Sawkins, J.; Warin, A. (Royal College of General Practitioners, 2000-08-24)
      BACKGROUND: The practice nurse is central to the development of a primary care-led National Health Service. Skin diseases can have a major impact on patients' lives but general practitioners (GPs) lack many of the skills ...
    • 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 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 prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study 

      Bancroft, E. K.; Page, E. C.; Brook, M. N.; Thomas, S.; Taylor, N.; Pope, J.; McHugh, J.; Jones, A. B.; Karlsson, Q.; Merson, S.; Ong, K. R.; Hoffman, J.; Huber, C.; Maehle, L.; Grindedal, E. M.; Stormorken, A.; Evans, D. G.; Rothwell, J.; Lalloo, F.; Brady, A. F.; Bartlett, M.; Snape, K.; Hanson, H.; James, P.; McKinley, J.; Mascarenhas, L.; Syngal, S.; Ukaegbu, C.; Side, L.; Thomas, T.; Barwell, J.; Teixeira, M. R.; Izatt, L.; Suri, M.; Macrae, F. A.; Poplawski, N.; Chen-Shtoyerman, R.; Ahmed, M.; Musgrave, H.; Nicolai, N.; Greenhalgh, L.; Brewer, C.; Pachter, N.; Spigelman, A. D.; Azzabi, A.; Helfand, B. T.; Halliday, D.; Buys, S.; Ramon, Y. Cajal T.; Donaldson, A.; Cooney, K. A.; Harris, M.; McGrath, J.; Davidson, R.; Taylor, A.; Cooke, P.; Myhill, K.; Hogben, M.; Aaronson, N. K.; Ardern-Jones, A.; Bangma, C. H.; Castro, E.; Dearnaley, D.; Dias, A.; Dudderidge, T.; Eccles, D. M.; Green, K.; Eyfjord, J.; Falconer, A.; Foster, C. S.; Gronberg, H.; Hamdy, F. C.; Johannsson, O.; Khoo, V.; Lilja, H.; Lindeman, G. J.; Lubinski, J.; Axcrona, K.; Mikropoulos, C.; Mitra, A. V.; Moynihan, C.; Ni Raghallaigh, H.; Rennert, G.; Collier, R.; Offman, J.; Kote-Jarai, Z.; Eeles, R. A. (Elsevier, 2021-11-01)
      BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and ...
    • An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. 

      Pagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I.; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; O'Donnell, Marie; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bönnemann, Carsten G.; Taylor, Jenny C.; Houlden, Henry (Oxford University Press, 2021-03-03)
      The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ...
    • Anterior lumbar discectomy and fusion for acute cauda equina syndrome caused by recurrent disc prolapse: report of 3 cases. 

      Tan, Kimberly-Anne; Sewell, Mathew David; Markmann, Yma; Clarke, Andrew J; Stokes, Oliver M.; Chan, Daniel (American Association of Neurological Surgeons, 2017-10)
      There is a lack of information and consensus regarding the optimal treatment for recurrent disc herniation previously treated by posterior discectomy, and no reports have described an anterior approach for recurrent disc ...
    • Anti-SARS-CoV-2 antibody responses are attenuated in patients with IBD treated with infliximab. 

      Kennedy, Nicholas A.; Goodhand, James R.; Bewshea, Claire; Nice, Rachel; Chee, Desmond; Lin, Simeng; Chanchlani, Neil; Butterworth, Jeffrey; Cooney, Rachel; Croft, Nicholas M.; Hart, Ailsa L.; Irving, Peter M.; Kok, Klaartje B.; Lamb, Christopher A.; Limdi, Jimmy K.; Macdonald, Jonathan; McGovern, Dermot Pb; Mehta, Shameer J.; Murray, Charles D.; Patel, Kamal V.; Pollok, Richard Cg; Raine, Timothy; Russell, Richard K.; Selinger, Christian P.; Smith, Philip J.; Bowden, Jack; McDonald, Timothy J.; Lees, Charlie W.; Sebastian, Shaji; Powell, Nicholas; Ahmad, Tariq (BMJ, 2021-05-01)
      OBJECTIVE: Antitumour necrosis factor (anti-TNF) drugs impair protective immunity following pneumococcal, influenza and viral hepatitis vaccination and increase the risk of serious respiratory infections. We sought to ...
    • Assessing communication skills of GP registrars: a comparison of patient and GP examiner ratings 

      Greco, M.; Spike, N.; Powell, R.; Brownlea, A. (Wiley, 2002-04-10)
      CONTEXT: General practice. OBJECTIVES: To compare ratings of GP registrars' communication skills by patients and GP examiners. DESIGN: A comparative study where the communication skills of GP registrars were assessed both ...
    • Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size 

      Shields, B. M.; Knight, B. A.; Powell, R. J.; Hattersley, A. T.; Wright, D. E. (BMC, 2006-08-17)
      BACKGROUND: Birth weight is a composite of skeletal size and soft tissue. These components are likely to have different growth patterns. The aim of this paper is to investigate the association between established determinants ...
    • Assessment, endoscopy, and treatment in patients with acute severe ulcerative colitis during the COVID-19 pandemic (PROTECT-ASUC): a multicentre, observational, case-control study 

      Sebastian, Shaji; Walker, Gareth J.; Kennedy, Nicholas A.; Conley, Thomas E.; Patel, Kamal V.; Subramanian, Sreedhar; Kent, Alexandra J.; Segal, Jonathan P.; Brookes, Matthew J.; Bhala, Neeraj; Gonzalez, Haidee A.; Hicks, Lucy C.; Mehta, Shameer J.; Lamb, Christopher A. (Elsevier, 2021-04-01)
      BACKGROUND: There is a paucity of evidence to support safe and effective management of patients with acute severe ulcerative colitis during the COVID-19 pandemic. We sought to identify alterations to established conventional ...
    • Associations between low HDL, sex and cardiovascular risk markers are substantially different in sub-Saharan Africa and the UK: analysis of four population studies 

      Greiner, R.; Nyrienda, M.; Rodgers, L.; Asiki, G.; Banda, L.; Shields, B.; Hattersley, A.; Crampin, A.; Newton, R.; Jones, A. (BMJ, 2021-05-01)
      INTRODUCTION: Low high-density lipoprotein (HDL) is widely used as a marker of cardiovascular disease risk, although this relationship is not causal and is likely mediated through associations with other risk factors. Low ...
    • Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. 

      Han, B.; Mohamed, Z.; Estebanez, M. S.; Craigie, R. J.; Newbould, M.; Cheesman, E.; Padidela, R.; Skae, M.; Johnson, M.; Flanagan, Sarah; Ellard, Sian; Cosgrove, K. E.; Banerjee, I.; Dunne, M. J. (Endocrine Society, 2017-09-01)
      We aimed to characterize mosaic populations of pancreatic islet cells from patients with atypical congenital hyperinsulinism in infancy (CHI-A) and the expression profile of NKX2.2, a key transcription factor expressed in ...
    • Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 

      Richard, E. M.; Bakhtiari, S.; Marsh, A. P. L.; Kaiyrzhanov, R.; Wagner, M.; Shetty, S.; Pagnozzi, A.; Nordlie, S. M.; Guida, B. S.; Cornejo, P.; Magee, H.; Liu, J.; Norton, B. Y.; Webster, R. I.; Worgan, L.; Hakonarson, H.; Li, J.; Guo, Y.; Jain, M.; Blesson, A.; Rodan, L. H.; Abbott, M. A.; Comi, A.; Cohen, J. S.; Alhaddad, B.; Meitinger, T.; Lenz, D.; Ziegler, A.; Kotzaeridou, U.; Brunet, T.; Chassevent, A.; Smith-Hicks, C.; Ekstein, J.; Weiden, T.; Hahn, A.; Zharkinbekova, N.; Turnpenny, P.; Tucci, A.; Yelton, M.; Horvath, R.; Gungor, S.; Hiz, S.; Oktay, Y.; Lochmuller, H.; Zollino, M.; Morleo, M.; Marangi, G.; Nigro, V.; Torella, A.; Pinelli, M.; Amenta, S.; Husain, R. A.; Grossmann, B.; Rapp, M.; Steen, C.; Marquardt, I.; Grimmel, M.; Grasshoff, U.; Korenke, G. C.; Owczarek-Lipska, M.; Neidhardt, J.; Radio, F. C.; Mancini, C.; Claps Sepulveda, D. J.; McWalter, K.; Begtrup, A.; Crunk, A.; Guillen Sacoto, M. J.; Person, R.; Schnur, R. E.; Mancardi, M. M.; Kreuder, F.; Striano, P.; Zara, F.; Chung, W. K.; Marks, W. A.; van Eyk, C. L.; Webber, D. L.; Corbett, M. A.; Harper, K.; Berry, J. G.; MacLennan, A. H.; Gecz, J.; Tartaglia, M.; Salpietro, V.; Christodoulou, J.; Kaslin, J.; Padilla-Lopez, S.; Bilguvar, K.; Munchau, A.; Ahmed, Z. M.; Hufnagel, R. B.; Fahey, M. C.; Maroofian, R.; Houlden, H.; Sticht, H.; Mane, S. M.; Rad, A.; Vona, B.; Jin, S. C.; Haack, T. B.; Makowski, C.; Hirsch, Y.; Riazuddin, S.; Kruer, M. C. (Cell Press, 2021-10-07)
      Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals ...
    • Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11 

      Hewat, T. I.; Yau, D.; Jerome, J. C. S.; Laver, T. W.; Houghton, J. A. L.; Shields, B. M.; Flanagan, S. E.; Patel, K. A. (BioScientifica, 2021-10-30)
      OBJECTIVE: Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition. ...
    • Cement-in-cement revision of the femur in infected hip arthroplasty in 89 patients across two centres 

      Fishley, W. G.; Selvaratnam, V.; Whitehouse, S. L.; Kassam, A. M.; Petheram, T. G. (British Editorial Society of Bone and Joint Journal, 2022-02-01)
      AIMS: Femoral cement-in-cement revision is a well described technique to reduce morbidity and complications in hip revision surgery. Traditional techniques for septic revision of hip arthroplasty necessitate removal of all ...
    • Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 

      Wang, H.; Salter, C. G.; Refai, O.; Hardy, H.; Barwick, K. E. S.; Akpulat, U.; Kvarnung, M.; Chioza, B. A.; Harlalka, G.; Taylan, F.; Sejersen, T.; Wright, J.; Zimmerman, H. H.; Karakaya, M.; Stüve, B.; Weis, J.; Schara, U.; Russell, M. A.; Abdul-Rahman, O. A.; Chilton, J.; Blakely, R. D.; Baple, E. L.; Cirak, S.; Crosby, Andrew H. (Oxford Journals, 2017-11-01)
      The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. ...
    • Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia 

      McGlacken-Byrne, S. M.; Mohammad, J. K.; Conlon, N.; Gubaeva, D.; Siersbæk, J.; Schou, A. J.; Demirbilek, H.; Dastamani, A.; Houghton, J. A. L.; Brusgaard, K.; Melikyan, M.; Christesen, H.; Flanagan, S. E.; Murphy, N. P.; Shah, P. (BioScientifica, 2022-02-22)
      OBJECTIVE: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). DESIGN: We characterised an ...
    • Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. 

      Galcheva, S.; Iotova, V.; Ellard, Sian; Flanagan, S. E.; Halvadzhiyan, I.; Petrova, C.; Hussain, K. (De Gruyter, 2017-04-01)
      Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) ...