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Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
The United Kingdom Childhood Cancer Study
UK Childhood Cancer Study Investigators
Feb 21, 2020
An investigation into the possible causes of childhood cancer has been carried out throughout England, Scotland and Wales over the period 1991-1998. All children known to be suffering from one or other type of the disease over...
Diffuse Intracranial Injury Patterns Are Associated with Impaired Cerebrovascular Reactivity in Adult Traumatic Brain Injury
Frederick A Zeiler, François Mathieu, Miguel Monteiro, Ben Glocker, Ari Ercole, Erta Beqiri, Manuel Cabeleira, Nino Stocchetti, Peter Smielewski, Marek Czosnyka, Virginia Newcombe, David K Menon, the CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators CENTER-TBI High-Resolution ICU (HR ICU) Sub-Study Participants and Investigators
Feb 28, 2020
Recent single-center retrospective analysis displayed the association between admission computed tomography (CT) markers of diffuse intracranial injury and worse cerebrovascular reactivity. The goal of this study was to further...
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
Sep 17, 2021
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease....
An observational study showed that explaining randomization using gambling-related metaphors and computer-agency descriptions impeded randomized clinical trial recruitment.
Marcus Jepson, Daisy Elliott, Carmel Conefrey, Julia Wade, Leila Rooshenas, Caroline Wilson, David Beard, Jane M Blazeby, Alison Birtle, Alison Halliday, Rob Stein, Jenny L Donovan, CSAW study group, Chemorad study group, POUT study group, ACST-2 study group, OPTIMA prelim study group
Aug 23, 2018
OBJECTIVES: To explore how the concept of randomization is described by clinicians and understood by patients in randomized controlled trials (RCTs) and how it contributes to patient understanding and recruitment. STUDY DESIGN...
Patient information qualitative research randomization Randomized controlled trials Recruitment Recruitment to RCTs Comprehension Decision Making Computer-Assisted Gambling Humans metaphor Patient Education as Topic Patient Selection qualitative research Random Allocation Randomized Controlled Trials as Topic United Kingdom
Differences in access to Emergency Paediatric Intensive Care and care during Transport (DEPICT)
Padmanabhan Ramnarayan, Ruth Evans, Elizabeth S Draper, Sarah E Seaton, Jo Wray, Stephen Morris, Christina Pagel, DEPICT Study Investigators
Nov 17, 2020
INTRODUCTION: Following centralisation of UK paediatric intensive care, specialist retrieval teams were established who travel to general hospitals to stabilise and transport sick children to regional paediatric intensive care...
The STRATAA study protocol
Thomas C Darton, James E Meiring, Susan Tonks, Md Arifuzzaman Khan, Farhana Khanam, Mila Shakya, Deus Thindwa, Stephen Baker, Buddha Basnyat, John D Clemens, Gordon Dougan, Christiane Dolecek, Sarah J Dunstan, Melita A Gordon, Robert S Heyderman, Kathryn E Holt, Virginia E Pitzer, Firdausi Qadri, K Zaman, Andrew J Pollard, STRATAA Study Consortium
Apr 10, 2019
INTRODUCTION: Invasive infections caused by Salmonella enterica serovar Typhi and Paratyphi A are estimated to account for 12-27 million febrile illness episodes worldwide annually. Determining the true burden of typhoidal...
Africa Asia Diagnosis enteric fever febrile illness healthcare utilisation infection transmission resource-limited setting Salmonella paratyphi A Salmonella typhi seroepidemiology serosurveillance vaccination programme Adolescent Bangladesh Carrier State Censuses Child Child Preschool Cost of Illness Female Health Resources Humans Incidence Infant Infant Newborn Malawi Male Models Theoretical Nepal Patient Acceptance of Health Care Population Surveillance Research Design Seroepidemiologic Studies Surveys and Questionnaires Typhoid Fever
New Therapeutics in Alzheimer's Disease Longitudinal Cohort study (NTAD)
Juliette Helene Lanskey, Ece Kocagoncu, Andrew J Quinn, Yun-Ju Cheng, Melek Karadag, Jemma Pitt, Stephen Lowe, Michael Perkinton, Vanessa Raymont, Krish D Singh, Mark Woolrich, Anna C Nobre, Richard N Henson, James B Rowe, NTAD study group
Dec 20, 2022
COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study
F Mone, RY Eberhardt, RK Morris, ME Hurles, DJ McMullan, ER Maher, J Lord, LS Chitty, JL Giordano, RJ Wapner, MD Kilby, CODE Study Collaborators
Sep 10, 2020
OBJECTIVE: To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS: A...
Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study
Rachel M Freathy, M Geoffrey Hayes, Margrit Urbanek, Lynn P Lowe, Hoon Lee, Christine Ackerman, Timothy M Frayling, Nancy J Cox, David B Dunger, Alan R Dyer, Andrew T Hattersley, Boyd E Metzger, William L Lowe, HAPO Study Cooperative Research Group
Feb 21, 2020
OBJECTIVE: Common genetic variants in GCK and TCF7L2 are associated with higher fasting glucose and type 2 diabetes in nonpregnant populations. However, their associations with glucose levels from oral glucose tolerance tests...
Birth Weight Female genetic variation Genotype Germinal Center Kinases Humans Hyperglycemia Infant Newborn Polymorphism Single Nucleotide Pregnancy Pregnancy Complications Pregnancy Outcome Pregnancy in Diabetics Protein Serine-Threonine Kinases TCF Transcription Factors Transcription Factor 7-Like 2 Protein White People
A Modified Progressive Supranuclear Palsy Rating Scale.
Marie-Therese Grötsch, Gesine Respondek, Carlo Colosimo, Yaroslau Compta, Jean Christophe Corvol, Joaquim Ferreira, Meret Koroni Huber, Martin Klietz, Lea FM Krey, Johannes Levin, Milica Jecmenica-Lukic, Daniel Macías-García, Wassilios G Meissner, Pablo Mir, Huw Morris, Christer Nilsson, James B Rowe, Klaus Seppi, Maria Stamelou, John C van Swieten, Gregor Wenning, Teodoro del Ser, Lawrence I Golbe, Günter U Höglinger, the ProPSP Study Group, and the Movement Disorder Society-Endorsed PSP Study Group Describe PSP Study Group
Jan 26, 2021
BACKGROUND: The Progressive Supranuclear Palsy Rating Scale is a prospectively validated physician-rated measure of disease severity for progressive supranuclear palsy. We hypothesized that, according to experts' opinion...
Is loneliness associated with increased health and social care utilisation in the oldest old? Findings from a population-based longitudinal study.
Hanyuying Wang, Emily Zhao, Jane Fleming, Tom Dening, Kay-Tee Khaw, Carol Brayne, CC75C Study Collaboration
Apr 17, 2019
OBJECTIVES: The present study aimed to examine the impact of loneliness on health and social care service use in the oldest old over a 7-year follow-up. DESIGN: Prospective study. SETTING: UK population-based cohort....
The impact of the COVID-19 pandemic upon pancreatic cancer treatment (CONTACT Study)
Lewis A Hall, Siobhan C McKay, James Halle-Smith, Joshua Soane, Daniel-Clement Osei-Bordom, Lesley Goodburn, Laura Magill, Thomas Pinkney, Ganesh Radhakrishna, Juan W Valle, Pippa Corrie, Keith J Roberts, CONTACT Study Group
Apr 17, 2023
INTRODUCTION: CONTACT is a national multidisciplinary study assessing the impact of the COVID-19 pandemic upon diagnostic and treatment pathways among patients with pancreatic ductal adenocarcinoma (PDAC). METHODS: The treatment...
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Caroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, Matthew E Hurles, David R FitzPatrick, Helen V Firth, DDD Study
Mar 05, 2021
PURPOSE: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being...
Genetic basis of lacunar stroke
Matthew Traylor, Elodie Persyn, Liisa Tomppo, Sofia Klasson, Vida Abedi, Mark K Bakker, Nuria Torres, Linxin Li, Steven Bell, Loes Rutten-Jacobs, Daniel J Tozer, Christoph J Griessenauer, Yanfei Zhang, Annie Pedersen, Pankaj Sharma, Jordi Jimenez-Conde, Tatjana Rundek, Raji P Grewal, Arne Lindgren, James F Meschia, Veikko Salomaa, Aki Havulinna, Christina Kourkoulis, Katherine Crawford, Sandro Marini, Braxton D Mitchell, Steven J Kittner, Jonathan Rosand, Martin Dichgans, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, Ramin Zand, Ynte Ruigrok, Natalia Rost, Robin Lemmens, Peter M Rothwell, Christopher D Anderson, Joanna Wardlaw, Cathryn M Lewis, Hugh S Markus, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group Helsinki Stroke, National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network, UK DNA Lacunar Stroke Study Investigators, International Stroke Genetics Consortium
Apr 01, 2021
BACKGROUND: The genetic basis of lacunar stroke is poorly understood, with a single locus on 16q24 identified to date. We sought to identify novel associations and provide mechanistic insights into the disease. METHODS: We did a...
Effects of delayed-release dimethyl fumarate on MRI measures in the phase 3 CONFIRM study.
David H Miller, Robert J Fox, J Theodore Phillips, Michael Hutchinson, Eva Havrdova, Mariko Kita, Claudia AM Wheeler-Kingshott, Daniel J Tozer, David G MacManus, Tarek A Yousry, Mary Goodsell, Minhua Yang, Ray Zhang, Vissia Viglietta, Katherine T Dawson, CONFIRM study investigators
Jun 22, 2018
OBJECTIVE: To evaluate the effects of oral delayed-release dimethyl fumarate (DMF; also known as gastro-resistant DMF) on MRI lesion activity and load, atrophy, and magnetization transfer ratio (MTR) measures from the Comparator...
The HAVEN study-hydroxychloroquine in ANCA vasculitis evaluation-a multicentre, randomised, double-blind, placebo-controlled trial
Annastazia E Learoyd, Lauren Arnold, Fiona Reid, Nicholas Beckley-Hoelscher, Alina Casian, Shirish Sangle, Neil Morton, Louise Nel, Angela Cape, Susan John, Sangmi Kim, Dharshene Shivapatham, Raashid Luqmani, David Jayne, James Galloway, Abdel Douiri, David D'Cruz, HAVEN study group
Apr 06, 2023
BACKGROUND: Patients with non-severe ANCA-associated vasculitis (AAV) are often prescribed immunosuppressive medications that are associated with severe side effects and a reduced quality of life. There is an unmet need for...
Baseline results from the UK SIGNIFY study
S Saya, E Killick, S Thomas, N Taylor, EK Bancroft, J Rothwell, S Benafif, A Dias, C Mikropoulos, J Pope, A Chamberlain, R Gunapala, SIGNIFY Study Steering Committee, L Izatt, L Side, L Walker, S Tomkins, J Cook, J Barwell, V Wiles, L Limb, D Eccles, MO Leach, S Shanley, FJ Gilbert, H Hanson, D Gallagher, B Rajashanker, RW Whitehouse, D-M Koh, SA Sohaib, DG Evans, RA Eeles
Mar 08, 2017
Study protocol. A prospective cohort study of unselected primiparous women
Dharmintra Pasupathy, Alison Dacey, Emma Cook, D Stephen Charnock-Jones, Ian R White, Gordon CS Smith
Jun 16, 2011
BACKGROUND: There have been dramatic changes in the approach to screening for aneuploidy over the last 20 years. However, the approach to screening for other complications of pregnancy such as intra-uterine growth restriction...
Can artificial intelligence pass the Fellowship of the Royal College of Radiologists examination? Multi-reader diagnostic accuracy study.
Susan Cheng Shelmerdine, Helena Martin, Kapil Shirodkar, Sameer Shamshuddin, Jonathan Richard Weir-McCall, FRCR-AI Study Collaborators
Dec 22, 2022
Final follow-up of the Multicentre Aneurysm Screening Study (MASS) randomized trial of abdominal aortic aneurysm screening.
SG Thompson, HA Ashton, L Gao, MJ Buxton, RAP Scott, Multicentre Aneurysm Screening Study (MASS) Group
Jan 27, 2020
BACKGROUND: The long-term effects of abdominal aortic aneurysm (AAA) screening were investigated in extended follow-up from the UK Multicentre Aneurysm Screening Study (MASS) randomized trial. METHODS: A population-based sample...
The effect of care provided by paediatric critical care transport teams on mortality of children transported to paediatric intensive care units in England and Wales
Sarah E Seaton, Elizabeth S Draper, Christina Pagel, Fatemah Rajah, Jo Wray, Padmanabhan Ramnarayan, DEPICT Study Team
Jul 12, 2021
BACKGROUND: Centralisation of paediatric intensive care units (PICUs) has the increased the need for specialist paediatric critical care transport teams (PCCT) to transport critically ill children to PICU. We investigated the...
CYP2D6 phenotype, tamoxifen, and risk of contralateral breast cancer in the WECARE Study.
Jennifer D Brooks, Elizabeth A Comen, Anne S Reiner, Irene Orlow, Siok F Leong, Xiaolin Liang, Lene Mellemkjær, Julia A Knight, Charles F Lynch, Esther M John, Leslie Bernstein, Meghan Woods, David R Doody, WECARE Study Collaborative Group, Kathleen E Malone, Jonine L Bernstein
Feb 18, 2019
BACKGROUND: Tamoxifen treatment greatly reduces a woman's risk of developing a second primary breast cancer. There is, however, substantial variability in treatment response, some of which may be attributed to germline genetic...
CYP2D6 Contralateral breast cancer Tamoxifen Adult Aged Antineoplastic Agents Hormonal Breast Neoplasms Case-Control Studies Cytochrome P-450 CYP2D6 Female Follow-Up Studies Humans Middle Aged Neoplasms Second Primary Pharmacogenomic Variants Polymorphism Single Nucleotide Tamoxifen Treatment Outcome
Population levels of, and inequalities in, active travel
Jonathan R Olsen, Richard Mitchell, Nanette Mutrie, Louise Foley, David Ogilvie, M74 study
May 03, 2018
This study aimed to describe active travel (walking or cycling) in Scotland and explore potential demographic, geographic, and socio-economic inequalities in active travel. We extracted data for the period 2012-13 (39,585...
The NeST (Neoadjuvant systemic therapy in breast cancer) study
I Whitehead, GW Irwin, F Bannon, CE Coles, E Copson, RI Cutress, RV Dave, MD Gardiner, M Grayson, C Holcombe, S Irshad, C O'Brien, RL O'Connell, C Palmieri, AM Shaaban, N Sharma, JK Singh, S Potter, SA McIntosh, NeST Study Research Collaborative
Feb 01, 2021
BACKGROUND: Neoadjuvant systemic therapy (NST) is increasingly used in the treatment of breast cancer, yet it is clear that there is significant geographical variation in its use in the UK. This study aimed to examine stated...
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