Abstracts from the NIHR INVOLVE Conference 2017

Autor: Delia Muir, Lidewij Eva Vat, Malori Keller, Tim Bell, Clara R. Jørgensen, Nanna B. Eskildsen, Anna T. Johnsen, Raksha Pandya-Wood, Steven Blackburn, Ruth Day, Carol Ingram, Julie Hapeshi, Samaira Khan, Wendy Baird, Sue H. Pavitt, Richard Boards, Janet Briggs, Ellen Loughhead, Mariya Patel, Rameesa Khalil, David Cooper, Peter Day, Jenny Boards, Jianhua Wu, Timothy Zoltie, Sophy Barber, Wendy Thompson, Kate Kenny, Jenny Owen, Martin Ramsdale, Kara Grey-Borrows, Nigel Townsend, Judith Johnston, Katie Maddison, Harry Duff-Walker, Katie Mahon, Lily Craig, Rebecca Collins, Alice O’Grady, Sarah Wadd, Adrian Kelly, Maureen Dutton, Michelle McCann, Rebecca Jones, Elspeth Mathie, Helena Wythe, Diane Munday, Paul Millac, Graham Rhodes, Nick Roberts, Jean Simpson, Nat Barden, Penny Vicary, Amander Wellings, Fiona Poland, Julia Jones, Jahanara Miah, Howard Bamforth, Anna Charalambous, Piers Dawes, Steven Edwards, Iracema Leroi, Valeria Manera, Suzanne Parsons, Ruth Sayers, Vanessa Pinfold, Paul Dawson, Bliss Gibbons, John Gibson, Charley Hobson-Merrett, Catherine McCabe, Tim Rawcliffe, Lucy Frith, Bernard Gudgin, Adele Horobin, Colleen Ewart, Fred Higton, Stevie Vanhegan, Jane Stewart, Andy Wragg, Paula Wray, Kirsty Widdowson, Lisa Jane Brighton, Sophie Pask, Hamid Benalia, Sylvia Bailey, Marion Sumerfield, Simon Etkind, Fliss E. M. Murtagh, Jonathan Koffman, Catherine J. Evans, Susan Hrisos, Julie Marshall, Lyndsay Yarde, Bren Riley, Paul Whitlock, Jacqui Jobson, Safia Ahmed, Judith Rankin, Lydia Michie, Jason Scott, Caroline R. Barker, Megan Barlow-Pay, Aisha Kekere-Ekun, Aniqa Mazumder, Aniqa Nishat, Rebecca Petley, Louca-Mai Brady, Lorna Templeton, Erin Walker, Darren Moore, Liz Shaw, Michael Nunns, Jo Thompson Coon, Paula Blomquist, Sarah Cochrane, Natalie Edelman, Josina Calliste, Jackie Cassell, Laura B. Mader, Sabine Kläger, Ian B. Wilkinson, Thomas F. Hiemstra, Mel Hughes, Angela Warren, Peter Atkins, Hazel Eaton, Julia Keenan, Carol Rhodes, Magdalena Skrybrant, Lucy Chatwin, Mary-Anne Darby, Andrew Entwistle, Diana Hull, Naimh Quann, Gary Hickey, Krysia Dziedzic, Sabrina A. Eltringham, Jim Gordon, Sue Franklin, Joni Jackson, Nick Leggett, Philippa Davies, Manjula Nugawela, Lauren Scott, Verity Leach, Alison Richards, Anthony Blacker, Paul Abrams, Jitin Sharma, Jenny Donovan, Penny Whiting, Simon R. Stones, Catherine Wright, Kate Boddy, Jenny Irvine, Jim Harris, Neil Joseph, Michele Kok, Andy Gibson, David Evans, Sally Grier, Alasdair MacGowan, Rachel Matthews, Constantina Papoulias, Cherelle Augustine, Maurice Hoffman, Mark Doughty, Heidi Surridge, Doreen Tembo, Amanda Roberts, Eleni Chambers, Daniel Beever, Martin Wildman, Rosemary L. Davies, Sophie Staniszewska, Richard Stephens, Sara Schroter, Amy Price, Tessa Richards, Andrew Demaine, Rebecca Harmston, Jim Elliot, Ella Flemyng, Lise Sproson, Liz Pryde, Heath Reed, Gill Squire, Andy Stanton, Joe Langley, Moya Briggs, Philip Brindle, Rod Sanders, Christopher McDermott, Coyle David, Heron Nicola, Davies Simon, Wilkie Martin, Tina Coldham, Claire Ballinger, Lynn Kerridge, Mark Mullee, Caroline Eyles, Tracey Johns, Jon Paylor, Katie Turner, Lisa Whiting, Sheila Roberts, Julia Petty, Gary Meager, Anna Grinbergs-Saull, Natasha Morgan, Kati Turner, Flavia Collins, Sarah Gibson, Siobhan Passmore, Liz Evans, Stuart A. Green, Jenny Trite, Richard Thomson, Dave Green, Helen Atkinson, Alex Mitchell, Lynne Corner, Anne Mc Kenzie AM, Rebecca Nguyen, Belinda Frank, Ngaire McNeil, Hayley Harrison

Publikováno v: Research Involvement and Engagement, Vol 3, Iss S1, Pp 1-17 (2017)

Externí odkaz: https://doaj.org/article/f0051a1a292143f1a6fb17f891a1a6a3

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

Autor: Janet Williams, Amanda G. Wood, Adam Jackson, Robert W.M. Walker, Neelo Aslam, John Dean, Myfanwy Rawson, Latha Hackett, Iain A. Bruce, Peter D. Turnpenny, Rebecca Bromley, Ruth Day, Verna Cuthbert, Lena Westbom, Hubert Journel, Jill Clayton-Smith, Gregory James, Sylvie Odent, Edmund J. Ladusans, Jane Ashworth, Gemma Arca Diaz, Sangeet Sidhu, Heli Malm, Daniel Hindley, Catrina Dyer

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Clayton-Smith, J, Bromley, R, Dean, J, Journel, H, Odent, S, Wood, A, Williams, J, Cuthbert, V, Hackett, L, Aslam, N, Malm, H, James, G, Westbom, L, Day, R, Ladusans, E, Jackson, A, Bruce, I, Walker, R, Sidhu, S, Dyer, C, Ashworth, J, Hindley, D, Diaz, G A, Rawson, M, Turnpenny, P & Jackson, A 2019, ' Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 180 . https://doi.org/10.1186/s13023-019-1064-y
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩

Background A pattern of major and minor congenital anomalies, facial dysmorphic features, and neurodevelopmental difficulties, including cognitive and social impairments has been reported in some children exposed to sodium valproate (VPA) during preg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8311a1ee18d5d9ee7459b282816b050
http://link.springer.com/article/10.1186/s13023-019-1064-y

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Autor: Sanjeev S. Bhaskar, Shehla Mohammed, Sahar Mansour, Janine Smith, Tim Thomas, Jill Clayton-Smith, Beverley Anderson, Dian Donnai, Leslie G. Biesecker, Alan Fryer, Ruth Day, Philip Smith, Shane McKee, Bronwyn Kerr, Kate Chandler, Małgorzata Krajewska-Walasek, Sally Ann Lynch, Anne K. Voss, May Tassabehji, Graeme C.M. Black, James O'Sullivan, Sarah B. Daly, Elizabeth Sweeney

Publikováno v: The American Journal of Human Genetics. 89(5):675-681

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e1fe44f97ec895a85407528ed807cc

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Autor: Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner

Publikováno v: Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fbdce47ec67c7da912bab79883e550
https://doi.org/10.1002/humu.21328

Managing Pain

Autor: Nick Allcock, Ruth Day

This chapter aims to provide you with the knowledge to be able to take an evidence-based approach to the nursing management of people who are experiencing pain. As a practising nurse, pain will be something that many of your patients will experience;

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cbce45cce946b427d5496d8fff48de0e
https://doi.org/10.1093/oso/9780199697410.003.0036