Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study

Autor: Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj, Will Evans

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Introduction This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 202

Externí odkaz: https://doaj.org/article/82a9b1d8fcb440f1a9947fd1b3b093cb

Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease

Autor: Caitlin Hampson, William Evans, Lucy McKay, Lara Menzies

Publikováno v: European Medical Journal (2022)

Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. A common feature of many diseases is a substantial delay in patients receiving a correct diagnosis; this protracted path to diagnosis is termed ‘

Externí odkaz: https://doaj.org/article/709974bbf43b4e71b949b63cfe6f3d98

The effects of puberty on white matter development in boys

Autor: Lara Menzies, Anne-Lise Goddings, Kirstie J. Whitaker, Sarah-Jayne Blakemore, Russell M. Viner

Publikováno v: Developmental Cognitive Neuroscience, Vol 11, Iss C, Pp 116-128 (2015)

Neuroimaging studies demonstrate considerable changes in white matter volume and microstructure during adolescence. Most studies have focused on age-related effects, whilst puberty-related changes are not well understood. Using diffusion tensor imagi

Externí odkaz: https://doaj.org/article/df88f389a6af4e1a84641d72fa38eb63

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Autor: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

Publikováno v: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2

BACKGROUND: Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924d
https://eprints.soton.ac.uk/455528/

Is it Possible to Implement a Rare Disease Case-Finding Tool in Primary Care? A UK-Based Pilot Study

Autor: Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj, Will Evans

Introduction This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b2a5cc56149a7ceb4fc2b707eccef7e
https://doi.org/10.21203/rs.3.rs-638180/v2