Now showing items 234-253 of 2073

    • A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. 

      Flanagan, S E; Vairo, F; Johnson, M B; Caswell, R; Laver, T W; Lango Allen, H; Hussain, K; Ellard, Sian (Wiley, 2017-03-20)
      Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes ...
    • 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 ...
    • Calcification of the vas deferens and seminal vesicles: a review 

      Stasinou, Theodora; Bourdoumis, Andreas; Owegie, P.; Kachrilas, S.; Buchholz, N.; Masood, J. (Can J Urol, 2015-02-01)
      INTRODUCTION: Calcification of the vas deferens and seminal vesicles is a rare condition of unknown incidence. It has been described in association with diabetes, hyperparathyroidism and genitourinary tuberculosis, amongst ...
    • Calnexin is necessary for T cell transmigration into the central nervous system. 

      Jung, J.; Eggleton, P.; Robinson, A.; Wang, J.; Gutowski, Nicholas J.; Holley, J.; Newcombe, J.; Dudek, E.; Paul, A. M.; Zochodne, D.; Kraus, A.; Power, C.; Agellon, L. B.; Michalak, M. (American Society for Clinical Investigation, 2018-03-08)
      In multiple sclerosis (MS), a demyelinating inflammatory disease of the CNS, and its animal model (experimental autoimmune encephalomyelitis; EAE), circulating immune cells gain access to the CNS across the blood-brain ...
    • Can agent-based simulation be used as a tool to support polypharmacy prescribing practice? 

      Chalk, D.; Manzi, S.; Britten, N.; Kluettgens, B.; Magura, Ratidzai; Valderas, J. (BMJ, 2017-07)
      We sought to develop a simulation modelling method to help better understand the complex interplay of factors that lead to people with type 2 diabetes and asthma not taking all of their medication as prescribed when faced ...
    • Can clinical audits be enhanced by pathway simulation and machine learning? An example from the acute stroke pathway 

      James, Martin (BMJ, 2019-09)
      OBJECTIVE: To evaluate the application of clinical pathway simulation in machine learning, using clinical audit data, in order to identify key drivers for improving use and speed of thrombolysis at individual hospitals.
    • Can clinical features be used to differentiate type 1 from type 2 diabetes? A systematic review of the literature 

      Shields, Beverley M; Peters, J. L.; Cooper, C.; Lowe, J.; Knight, Bridget A.; Powell, Roy; Jones, Angus; Hyde, C. J.; Hattersley, Andrew T. (BMJ, 2015-11-02)
      OBJECTIVE: Clinicians predominantly use clinical features to differentiate type 1 from type 2 diabetes yet there are no evidence-based clinical criteria to aid classification of patients. Misclassification of diabetes is ...
    • Can genetic evidence help us to understand the fetal origins of type 2 diabetes? 

      Freathy, Rachel M. (Springer, 2016-07-19)
      Lower birthweight is consistently associated with a higher risk of type 2 diabetes in observational studies, but the mechanisms underlying this association are not fully understood. Animal models and studies of famine-exposed ...
    • Can I treat this pregnant patient with botulinum toxin? 

      Pearce, Catharine (BMJ, 2014-02)
      Botulinum toxin type A (BoNT-A) is used extensively in the neurological setting, most commonly for the management of dystonia and spasticity. It is inevitable that female patients who derive a significant benefit from ...
    • Can social media reduce discrimination and ignorance towards patients with long term conditions? A chronic kidney disease example in the UK and more widely 

      Muhammad, Shahid N.; Zahra, A. J.; Leicester, H. J.; Davis, H. (Patient Experience Journal, 2016-05)
      Long Term Conditions (LTCs) are increasing in prevalence and cost in Western healthcare. Patients with such conditions are often classed as “disabled”, because of impacts of self-care on “activities of daily life” or ...
    • Can spinal surgery in England be saved from litigation: a review of 978 clinical negligence claims against the NHS. 

      Machin, J.; Hardman, J.; Harrison, W.; Briggs, T. W. R.; Hutton, Mike (Springer, 2018-08-27)
      The aim of this study is to evaluate the true incidence of all clinical negligence claims against spinal surgery performed by orthopaedic spinal surgeons and neurosurgeons in the National Health Service (NHS) in England, ...
    • The cancer-associated cell migration protein TSPAN1 is under control of androgens and its upregulation increases prostate cancer cell migration. 

      Munkley, J.; McClurg, U. L.; Livermore, K. E.; Ehrmann, I.; Knight, Bridget; Mccullagh, Paul; McGrath, John S; Crundwell, Malcolm; Harries, L. W.; Leung, H Y; Mills, I. G.; Robson, C. N.; Rajan, P.; Elliott, D. J. (Nature, 2017-07-12)
      Cell migration drives cell invasion and metastatic progression in prostate cancer and is a major cause of mortality and morbidity. However the mechanisms driving cell migration in prostate cancer patients are not fully ...
    • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 

      Peterlongo, P.; Chang-Claude, J.; Moysich, K. B.; Rudolph, A.; Schmutzler, R. K.; Simard, J.; Soucy, P.; Eeles, R. A.; Easton, D. F.; Hamann, U.; Wilkening, S.; Chen, B.; Rookus, M. A.; Schmidt, M. K.; van der Baan, F. H.; Spurdle, A. B.; Walker, L. C.; Lose, F.; Maia, A. T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Gomez Garcia, E. B.; Olopade, O. I.; Nussbaum, R. L.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Orsulic, S.; Lester, J.; Chung, W. K.; Miron, A.; Southey, M. C.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Ding, Y. C.; Neuhausen, S. L.; Hansen, T. V.; Gerdes, A. M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E. E.; Blazer, K. R.; Weitzel, J. N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M. G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J. E.; Donaldson, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Davidson, R.; Hodgson, S. V.; Ellis, S.; Cole, T.; Embrace,; Godwin, A. K.; Claes, K.; Van Maerken, T.; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O. M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Gemo Study Collaborators; Piedmonte, M.; Friedlander, M. L.; Rodriguez, G. C.; Copeland, L. J.; de la Hoya, M.; Segura, P. P.; Nevanlinna, H.; Aittomaki, K.; van Os, T. A.; Meijers-Heijboer, H. E.; van der Hout, A. H.; Vreeswijk, M. P.; Hoogerbrugge, N.; Ausems, M. G.; van Doorn, H. C.; Collee, J. M.; Hebon,; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M. R.; Olswold, C.; Couch, F. J.; Lindor, N. M.; Wang, X.; Szabo, C. I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M. E.; Zhang, L.; Joseph, V.; Berger, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Rennert, G.; Mulligan, A. M.; Glendon, G.; Tchatchou, S.; Andrulis, I. L.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Thomassen, M.; Jensen, U. B.; Laitman, Y.; Rantala, J.; von Wachenfeldt, A.; Ehrencrona, H.; Askmalm, M. S.; Borg, A.; Kuchenbaecker, K. B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P. D.; Chenevix-Trench, G.; K. ConFab Investigators; Antoniou, A. C.; Friedman, E. (Cancer Epidemiol Biomarkers Prev, 2015-01-01)
      BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
    • Capnography for procedural sedation in the ED: a systematic review. 

      Dewdney, C.; MacDougall, M.; Blackburn, R.; Lloyd, Gavin; Gray, A. (BMJ, 2016-08-26)
      Procedural sedation and analgesia (PSA) is commonplace in the ED. Previous studies have identified capnography as a reliable indicator of PSA-induced respiratory depression. This review investigates the potential effect ...
    • Capturing real-life forgetting in transient epileptic amnesia via an incidental memory test. 

      Hoefeijzers, S.; Zeman, Adam; Della Sala, S.; Dewar, M. (Elsevier, 2017-12-13)
      Transient epileptic amnesia (TEA) is an epileptic syndrome characterized by recurrent, brief episodes of amnesia. Patients with TEA often complain of interictal (between attacks) retention deficits, characterised by an ...
    • Cardiac imaging to investigate suspected cardiac pain in the post-treadmill era 

      Gosling, Oliver E.; Morgan-Hughes, G.; Bellenger, Nick G. (Clin Med, 2014-10-01)
      Symptomatic cardiovascular disease is one of the leading causes of hospital admissions in the UK; along with emergency attendances, over 100,000 patients are investigated using treadmill testing via rapid access chest pain ...
    • Cardiovascular and metabolic effects of metformin in patients with type 1 diabetes (REMOVAL): a double-blind, randomised, placebo-controlled trial. 

      Petrie, J R [et al]; REMOVAL Study Group inc. collaboration from:; Shore, Angela; Miller, C.; Warren, Roderick (Elsevier, 2017-06-09)
      Metformin might reduce insulin requirement and improve glycaemia in patients with type 1 diabetes, but whether it has cardiovascular benefits is unknown. We aimed to investigate whether metformin treatment (added to titrated ...
    • Cardioversion of a supraventricular tachycardia (SVT) in a 7-year-old using a postural modification of the Valsalva manoeuvre. 

      Morley-Smith, E. J.; Gagg, J.; Appelboam, Andrew (BMJ, 2017-05-04)
      A boy aged 7 years presented with his parents to the emergency department (ED). He had a known diagnosis of paroxysmal supraventricular tachycardia (SVT) and was under the care of paediatricians. He had been suffering ...
    • Care pathway: the role of the health care professional in the management of spasticity 

      Keenan, L.; Stevenson, V.; Jarrett, Louise (Multiple Sclerosis Trust, 2010)