Now showing items 1-20 of 959

    • The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. 

      Chakera, Ali J.; Spyer, G.; Vincent, N.; Ellard, Sian; Hattersley, Andrew T.; Dunne, F. P. (American Diabetes Association, 2014-02)
      Identifying glucokinase monogenic diabetes (GCK-MODY) in pregnancy is important, as management is different from management for other forms of gestational diabetes mellitus (GDM) and there is no increased maternal risk of ...
    • 10 Years of Improving Pain Assessment Documentation in a Foundation Trust Hospital 

      Murdoch, Julie; Price, Lucy; Cook, Laura; Wassall, Richard; Jackson, Mark (2016-09)
    • 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 ...
    • 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 ...
    • 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. 

      Turnpenny, Peter D. (Nature, 2018-12-14)
      There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation ...
    • 3-phase Technicium-99m bone scanning in patients with pain in the hip region after cemented total hip replacement: a multicentre series of 100 cases. 

      Hill, Daniel S; Naim, Soulat; Powell, Roy; Kinsella, Denis; Toms, Andrew; Howell, Jonathan (Wichtig, 2017-11-21)
      The aim of this study was to assess the benefit of a Technetium-99M (HDP) 3-phase bone scan (TPBS) as an additional diagnostic test in the evaluation of pain in the hip region following cemented total hip replacement (THR) ...
    • A 60 year history of recurrent hypoglycaemia 

      Foteinopoulou, E.; Colclough, Kevin; Strachan, M. (BioScientifica, 2018-04-09)
    • 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 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 feasibility study of multisite networked digital pathology reporting in England 

      Mayall, Frederick; Smethurst, Hanne-Brit; Semkin, Leonid; Mandalia, Trupti; Sohail, Muhammed; Hadden, Rob; Biddlestone, Leigh (Medknow Publications, 2022-01-01)
      <b>Background:</b> The objective of the project was to evaluate the feasibility of introducing a single-networked digital histopathology reporting platform in the Southwest Peninsula region of England by allowing pathologists ...
    • 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 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 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 novel algorithmic approach to generate consensus treatment guidelines in adult acute myeloid leukaemia 

      Coats, T.; Bean, D.; Basset, A.; Sirkis, T.; Brammeld, J.; Johnson, S.; Thomas, I.; Gilkes, A.; Raj, K.; Dennis, M.; Knapper, S.; Mehta, P.; Khwaja, A.; Hunter, H.; Tauro, S.; Bowen, D.; Jones, G.; Dobson, R.; Russell, N.; Dillon, R. (Wiley, 2021-12-26)
      Induction therapy for acute myeloid leukaemia (AML) has changed with the approval of a number of new agents. Clinical guidelines can struggle to keep pace with an evolving treatment and evidence landscape and therefore ...
    • A Practical Guide to Genetic Testing in Endocrinology 

      Izatt, L.; Owens, M. M.; Pierce, H.; Wilcox, S.; Park, S. M. (Wiley, 2021-09-16)
      Rapid advances in sequencing technology have led to significant improvements in genomic analysis, resulting in increased understanding of the molecular basis of many endocrine conditions. Genomic testing for rare disease ...
    • 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 ...
    • A randomised, double-blind study investigating the relationship between early childhood trauma and the rewarding effects of morphine. 

      Carlyle, Molly; Broomby, Rupert; Simpson, Graham; Hannon, Rachel; Fawaz, Leah; Mollaahmetoglu, O. Merve; Drain, Jade; Mostazir, Mohammod; Morgan, Celia J. A. (Wiley, 2021-06-21)
      Experiences of childhood trauma (abuse and neglect) are disproportionately higher in those with opioid use disorder (OUD). Childhood trauma may affect the reinforcing and rewarding properties of opioid drugs and responses ...
    • A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees 

      Khan, K.; Mehmood, S.; Liu, C.; Siddiqui, M.; Ahmad, A.; Faiz, B. Y.; Chioza, B. A.; Baple, E. A.; Ullah, M. I.; Akram, Z.; Satti, H. S.; Khan, R.; Harlalka, G. V.; Jameel, M.; Akram, T.; Baig, S. M.; Crosby, A. H.; Hassan, M. J.; Zhang, F.; Davis, E. E.; Khan, T. N. (Wiley, 2021-10-25)
      Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported ...
    • A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant. 

      Sabir, Ataf H.; Singh, Ananya; Elley, George; Wassemer, Evangeline; Foster, Katharine; Sloman, Melissa; Lim, Derek (Wolters Kluwer, 2021-04-01)
    • A Systematic Literature Review and Meta-Analysis of the Incidence of Serious or Severe Hypersensitivity Reactions after Administration of Ferric Derisomaltose and Ferric Carboxymaltose 

      Biggar, Patrick; Kennedy, Nicholas; Pöhlmann, Johannes; Pollock-Wilkins, Richard F. (Blood, 2021-11-23)
      Background and Aims Intravenous (IV) iron is the preferred treatment for patients with iron deficiency (ID) and iron deficiency anemia (IDA) in a variety of clinical situations. Although uncommon, administration of modern ...