Now showing items 417-436 of 628

    • Obstructive sleep apnea syndrome with bilateral papilledema and vision loss in a 3-year-old child. 

      Quinn, Anthony G.; Gouws, Pieter; Headland, Sophie; Oades, Patrick; Pople, I.; Taylor, D.; Benton, J.S.; Buncic, J.R.; Henderson, J.; Fleming, P. (Elsevier, 2008-04)
      We describe bilateral papilledema and vision loss in a 3-year-old child with obstructive sleep apnea. Although lumbar puncture initially disclosed a normal opening pressure, cerebrospinal fluid (CSF) pressure monitoring ...
    • Olaratumab in Combination with Doxorubicin for the Treatment of Advanced Soft Tissue Sarcoma: An Evidence Review Group Perspective of a National Institute for Health and Care Excellence Single Technology Appraisal. 

      Tikhonova, I. A.; Jones-Hughes, T. L.; Dunham, J.; Warren, F. C.; Robinson, S.; Stephens, Peter; Hoyle, M. (Springer, 2017-09-15)
      The manufacturer of olaratumab (Lartruvo(®)), Eli Lilly & Company Limited, submitted evidence for the clinical and cost effectiveness of this drug, in combination with doxorubicin, for untreated advanced soft tissue sarcoma ...
    • Optimising health and wellbeing clinics: supporting patient's choice after a cancer diagnosis 

      Bracey, Maria; Mitchell, Keith; Delfront, S.; Abraham, Wendi (2016-06)
    • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers 

      Blein, S.; Bardel, C.; Danjean, V.; McGuffog, L.; Healey, S.; Barrowdale, D.; Lee, A.; Dennis, J.; Kuchenbaecker, K. B.; Soucy, P.; Terry, M. B.; Chung, W. K.; Goldgar, D. E.; Buys, S. S.; Breast Cancer Family, Registry; Janavicius, R.; Tihomirova, L.; Tung, N.; Dorfling, C. M.; van Rensburg, E. J.; Neuhausen, S. L.; Ding, Y. C.; Gerdes, A. M.; Ejlertsen, B.; Nielsen, F. C.; Hansen, T. V.; Osorio, A.; Benitez, J.; Conejero, R. A.; Segota, E.; Weitzel, J. N.; Thelander, M.; Peterlongo, P.; Radice, P.; Pensotti, V.; Dolcetti, R.; Bonanni, B.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Manoukian, S.; Varesco, L.; Capone, G. L.; Papi, L.; Ottini, L.; Yannoukakos, D.; Konstantopoulou, I.; Garber, J.; Hamann, U.; Donaldson, A.; Brady, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Embrace,; Douglas, F.; Cook, J.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Tischkowitz, M.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Eeles, R.; Davidson, R.; Hodgson, S.; Cole, T.; Godwin, A. K.; Isaacs, C.; Claes, K.; De Leeneer, K.; Meindl, A.; Gehrig, A.; Wappenschmidt, B.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Schmutzler, R. K.; Preisler-Adams, S.; Markov, N. B.; Wang-Gohrke, S.; de Pauw, A.; Lefol, C.; Lasset, C.; Leroux, D.; Rouleau, E.; Damiola, F.; Gemo Study Collaborators; Dreyfus, H.; Barjhoux, L.; Golmard, L.; Uhrhammer, N.; Bonadona, V.; Sornin, V.; Bignon, Y. J.; Carter, J.; Van Le, L.; Piedmonte, M.; DiSilvestro, P. A.; de la Hoya, M.; Caldes, T.; Nevanlinna, H.; Aittomaki, K.; Jager, A.; van den Ouweland, A. M.; Kets, C. M.; Aalfs, C. M.; van Leeuwen, F. E.; Hogervorst, F. B.; Meijers-Heijboer, H. E.; Hebon,; Oosterwijk, J. C.; van Roozendaal, K. E.; Rookus, M. A.; Devilee, P.; van der Luijt, R. B.; Olah, E.; Diez, O.; Teule, A.; Lazaro, C.; Blanco, I.; Del Valle, J.; Jakubowska, A.; Sukiennicki, G.; Gronwald, J.; Lubinski, J.; Durda, K.; Jaworska-Bieniek, K.; Agnarsson, B. A.; Maugard, C.; Amadori, A.; Montagna, M.; Teixeira, M. R.; Spurdle, A. B.; Foulkes, W.; Olswold, C.; Lindor, N. M.; Pankratz, V. S.; Szabo, C. I.; Lincoln, A.; Jacobs, L.; Corines, M.; Robson, M.; Vijai, J.; Berger, A.; Fink-Retter, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Greene, M. H.; Mai, P. L.; Rennert, G.; Imyanitov, E. N.; Mulligan, A. M.; Glendon, G.; Andrulis, I. L.; Tchatchou, S.; Toland, A. E.; Pedersen, I. S.; Thomassen, M.; Kruse, T. A.; Jensen, U. B.; Caligo, M. A.; Friedman, E.; Zidan, J.; Laitman, Y.; Lindblom, A.; Melin, B.; Arver, B.; Loman, N.; Rosenquist, R.; Olopade, O. I.; Nussbaum, R. L.; Ramus, S. J.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Mitchell, G.; Karlan, B. Y.; Lester, J.; Orsulic, S.; Stoppa-Lyonnet, D.; Thomas, G.; Simard, J.; Couch, F. J.; Offit, K.; Easton, D. F.; Chenevix-Trench, G.; Antoniou, A. C.; Mazoyer, S.; Phelan, C. M.; Sinilnikova, O. M.; Cox, D. G. (BioMed Central, 2015-04-01)
      INTRODUCTION: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be ...
    • Oxygen saturation targets in infants with bronchiolitis (BIDS): a double-blind, randomised, equivalence trial 

      Cunningham, S.; Rodriguez, A.; Adams, T.; Boyd, K. A.; Butcher, I.; Enderby, Beth; MacLean, M.; McCormick, J.; Paton, J. Y.; Wee, F.; Thomas, H.; Riding, K.; Turner, S. W.; Williams, C.; McIntosh, E.; Lewis, S. C.; Bronchiolitis of Infancy Discharge Study, group (Elsevier, 2015-09-11)
      BACKGROUND: The American Academy of Pediatrics recommends a permissive hypoxaemic target for an oxygen saturation of 90% for children with bronchiolitis, which is consistent with the WHO recommendations for targets in ...
    • Oxygen uptake efficiency slope is not a valid submaximal measure of aerobic capacity in paediatric cystic fibrosis patients 

      Chubbock, L. V.; Barker, A. R.; Tomlinson, Owen; Saynor, Z.; Stevens, D; Williams, Craig A.; Oades, Patrick (2015-11-05)
    • The oxygen uptake efficiency slope is not a valid surrogate of aerobic fitness in children with cystic fibrosis 

      Williams, C.; Tomlinson, O. W.; Chubbock, L. V.; Saynor, Z.; Oades, Patrick; Barker, A. R. (Wiley, 2017-10-24)
    • p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer. 

      Loveday, C.; Josephs, K.; Chubb, D.; Gunning, A.; Izatt, L.; Tischkovitz, M.; Ellard, Sian; Turnbull, C. (Endocrine Society, 2018-03-23)
      To date, penetrance figures for medullary thyroid cancer (MTC) for variants in RET have been estimated from families ascertained on account of presence of MTC.
    • Paediatric procedural sedation using ketamine in a UK emergency department: a 7 year review of practice. 

      Kidd, Lawrence R; Lyons, S C; Lloyd, Gavin (Oxford Journals, 2016-02-17)
      Ketamine is growing in popularity for procedural sedation in the paediatric population, yet safety concerns remain. We performed a retrospective review of practice and outcomes of paediatric ketamine sedation using the ...
    • Pain Assessment and Management in the Cognitively Impaired 

      Murdoch, Julie; Price, Lucy; Cook, Laura; Wassall, Richard; Jackson, Mark (2016-09)
    • Parent-to-parent support interventions for parents of babies cared for in a neonatal unit-protocol of a systematic review of qualitative and quantitative evidence. 

      Hunt, H.; Whear, R.; Boddy, K.; Wakely, L.; Bethel, A.; Morris, C.; Abbott, R.; Prosser, Sue; Collinson, A.; Kurinczuk, J.; Thompson-Coon, J. (BioMed Central, 2018-10-31)
      Parents of babies admitted to neonatal units experience an arduous emotional journey. Feelings of helplessness, fear, sadness, guilt, grief and anger are common. These feelings can lead to anxiety, depression and post-traumatic ...
    • Parents as partners in care: Lessons from the Baby Friendly Initiative in Exeter 

      Read, Karen; Rattenbury, Louise (Elsevier, 2017-12-06)
      Neonatal care has changed beyond recognition in the past few decades with advances in technology meaning smaller and sicker babies are surviving more than ever before. Families can sometimes feel they are left watching on ...
    • Parents' attitudes toward the use of complementary therapy by their children with moderate or severe cerebral palsy. 

      Wray, J.; Edwards, V.; Wyatt, K. M.; Maddick, A.; Logan, Stuart; Franck, L. (Mary Ann Liebert, 2014-02)
      To describe the use of, and attitudes toward, complementary therapy (CT) by parents of children with moderate to severe cerebral palsy.
    • Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation 

      Ellard, Sian (Bioscientifica, 2019-02-11)
      We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous ...
    • Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. 

      Szafranski, P.; Gambin, T.; Dharmadhikari, A. V.; Akdemir, K. C.; Jhangiani, S. N.; Schuette, J.; Godiwala, N.; Yatsenko, S. A.; Sebastian, J.; Madan-Khetarpal, S.; Surti, U.; Abellar, R. G.; Bateman, D. A.; Wilson, A. L.; Markham, M. H.; Slamon, J.; Santos-Simarro, F.; Palomares, M.; Nevado, J.; Lapunzina, P.; Chung, B. Hon-Yin; Wong, W-L; Chu, Y.W. Y.; Mok, G. T. K.; Kerem, E.; Reiter, J.; Ambalavanan, N.; Anderson, S. A.; Kelly, D. R.; Shieh, J.; Rosenthal, T. C.; Scheible, K.; Steiner, L.; Iqbal, M. A.; McKinnon, M. L.; Hamilton, S. J.; Schlade-Bartusiak, K.; English, D.; Hendson, G.; Roeder, E. R.; DeNapoli, T. S.; Littlejohn, R. O.; Wolff, D. J.; Wagner, C. L.; Yeung, A.; Francis, D.; Fiorino, E. K.; Edelman, M.; Fox, J.; Hayes, D. A.; Janssens, S.; De Baere, E.; Menten, B.; Loccufier, A.; Vanwalleghem, L.; Moerman, P.; Sznajer, Y.; Lay, A. S.; Kussmann, J. L.; Chawla, J.; Payton, D. J.; Phillips, G. E.; Brosens, E.; Tibboel, D.; de Klein, A.; Maystadt, I.; Fisher, R.; Sebire, N.; Male, A.; Chopra, M.; Pinner, J.; Malcolm, G.; Peters, G.; Arbuckle, S.; Lees, M.; Mead, Z.; Quarrell, O.; Sayers, R.; Owens, Martina; Shaw-Smith, Charles; Lioy, J.; McKay, E.; de Leeuw, N.; Feenstra, I.; Spruijt, L.; Elmslie, F.; Thiruchelvam, T.; Bacino, C. A.; Langston, C.; Lupski, J. R.; Sen, P.; Popek, E.; Stankiewicz, P. (Springer, 2016-04-12)
      Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its ...
    • Pathogenic variants in GPC4 cause Kelpert Syndrome 

      Shaw-Smith, Charles (Cell Press, 2019-05)
      Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in the regulation of morphogenesis. Whole-exome sequencing of the ...
    • Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data 

      Mandalia, Trupti (Elsevier, 2019-08)
      There is a need to develop and validate biomarkers for treatment response and survival in tubo-ovarian high-grade serous carcinoma (HGSC). The chemotherapy response score (CRS) stratifies patients into complete/near-complete ...
    • Patient and public involvement (PPI) in delirium research 

      Cheeseman, Debbie; Lovegrove, Chris (2016-06-01)
    • Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia. 

      Saukko, P. M.; Ellard, Sian; Richards, S. H.; Shepherd, Maggie; Campbell, John L. (BioMed Central, 2007)
      UK and US policy initiatives have suggested that, in the future, patients and clinicians in mainstream medicine could use genetic information to prevent common illnesses. There are no studies on patients' experience and ...