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Results: 25219
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...
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, EMBRACE, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
Mar 16, 2018
PURPOSE: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is...
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Amanda B Spurdle, Antonis C Antoniou, David L Duffy, Nirmala Pandeya, Livia Kelemen, Xiaoqing Chen, Susan Peock, Margaret R Cook, Paula L Smith, David M Purdie, Beth Newman, Gillian S Dite, Carmel Apicella, Melissa C Southey, Graham G Giles, John L Hopper, Georgia Chenevix-Trench, Douglas F Easton, EMBRACE Study Collaborators
Jun 17, 2011
INTRODUCTION: The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9-32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to...
Efficacy and Safety of Belimumab and Azathioprine for Maintenance of Remission in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis
David Jayne, Daniel Blockmans, Raashid Luqmani, Sergey Moiseev, Beulah Ji, Yulia Green, Leanne Hall, David Roth, Robert B Henderson, Peter A Merkel, BREVAS Study Collaborators
Jun 28, 2019
OBJECTIVE: To evaluate the safety and efficacy of belimumab as adjunctive therapy to maintain remission in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). METHODS: In this multicenter, double-blind...
Adult Aged Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Antibodies Antineutrophil Cytoplasmic Antibodies Monoclonal Humanized Azathioprine B-Lymphocytes cyclophosphamide Double-Blind Method Drug Therapy Combination Female Glucocorticoids Humans Immunoglobulins Immunosuppressive Agents Infections Maintenance Chemotherapy Male Middle Aged Remission Induction Rituximab Treatment Outcome
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...
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...
Embrace Uncertainty
Consumers' worse-than-expected disconfirmation in ecommerce settings leads to several negative consequences, such as product returns and sales reductions. In contrast to common remedy strategies, a novel, proactive strategy...
Published by: IGI Global Scientific Publishing
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...
Use of multidimensional item response theory methods for dementia prevalence prediction
GBD 2019 Dementia Collaborators
Oct 11, 2021
BACKGROUND: Data sparsity is a major limitation to estimating national and global dementia burden. Surveys with full diagnostic evaluations of dementia prevalence are prohibitively resource-intensive in many settings. However...
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....
Multicentre evaluation of renal impairment in thoracic surgery (MERITS)
Vinci Naruka, Mikel Alexander McKie, Navid Ahmadi, EA Claudia Pama, Aman S Coonar, Merits Collaborators
Oct 29, 2022
OBJECTIVES: To measure the unit-level variation in Acute Kidney Injury (AKI) incidence post-thoracic surgery over a contemporary 1-year period. Secondary aims include examining the associations with sex, age group, operation...
Early mobilisation and rehabilitation in the PICU
Jacqueline Y Thompson, Julie C Menzies, Joseph C Manning, Jennifer McAnuff, Emily Clare Brush, Francesca Ryde, Tim Rapley, Nazima Pathan, Stephen Brett, David J Moore, Michelle Geary, Gillian A Colville, Kevin P Morris, Roger Charles Parslow, Richard G Feltbower, Sophie Lockley, Fenella J Kirkham, Rob J Forsyth, Barnaby R Scholefield, Paediatric Critical Care Society Study-Group PCCS-SG Paediatric Critical Care Society Study-Group PCCS-SG the PERMIT Collaborators
Jul 18, 2022
Objective
To understand the context and professional perspectives of delivering early rehabilitation and mobilisation (ERM) within UK paediatric intensive care units (PICUs).Design
A web-based survey...
Published by: BMJ paediatrics open
Global, regional, and national comparative risk assessment of 84 behavioural, environmental and occupational, and metabolic risks or clusters of risks for 195 countries and territories, 1990-2017
GBD 2017 Risk Factor Collaborators
Sep 18, 2019
BACKGROUND: The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017 comparative risk assessment (CRA) is a comprehensive approach to risk factor quantification that offers a useful tool for synthesising...
Adolescent Adult Age Distribution Aged Aged 80 and over Child Child Preschool Disabled Persons Environmental Exposure Female Global Burden of Disease Global Health Health Risk Behaviors Humans Infant Infant Newborn Life Expectancy Male Metabolic Diseases Middle Aged Occupational Diseases occupational exposure Quality-Adjusted Life Years Risk Assessment Sex Distribution Socioeconomic Factors Young Adult
Cerebral venous thrombosis after vaccination against COVID-19 in the UK
Richard J Perry, Arina Tamborska, Bhagteshwar Singh, Brian Craven, Richard Marigold, Peter Arthur-Farraj, Jing Ming Yeo, Liqun Zhang, Ghaniah Hassan-Smith, Matthew Jones, Christopher Hutchcroft, Esther Hobson, Dana Warcel, Daniel White, Phillip Ferdinand, Alastair Webb, Tom Solomon, Marie Scully, David J Werring, Christine Roffe, CVT After Immunisation Against COVID-19 (CAIAC) collaborators
Sep 09, 2021
BACKGROUND: A new syndrome of vaccine-induced immune thrombotic thrombocytopenia (VITT) has emerged as a rare side-effect of vaccination against COVID-19. Cerebral venous thrombosis is the most common manifestation of this...
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
Global, regional, and national burden of Alzheimer's disease and other dementias, 1990-2016
GBD 2016 Dementia Collaborators
Feb 08, 2019
BACKGROUND: The number of individuals living with dementia is increasing, negatively affecting families, communities, and health-care systems around the world. A successful response to these challenges requires an accurate...
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...
Managing North-South Research Collaboration Projects During the COVID-19 Pandemic
Researchers from the Global North and South have collaborated for decades to conduct cutting-edge interdisciplinary research. The tools they used to manage their research projects remained virtually unchanged until the COVID-19...
Published by: IGI Global Scientific Publishing
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
Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970-2016
GBD 2016 Mortality Collaborators
Oct 03, 2018
BACKGROUND: Detailed assessments of mortality patterns, particularly age-specific mortality, represent a crucial input that enables health systems to target interventions to specific populations. Understanding how all-cause...
Adolescent Adult Age Distribution Aged Aged 80 and over Birth Rate Cause of Death Child Child Preschool Educational Status Female Global Burden of Disease Global Health HIV Infections Humans Infant Infant Newborn Life Expectancy Male Middle Aged Socioeconomic Factors Stillbirth Survival Rate Young Adult
Early mobilisation and rehabilitation in the PICU
Jacqueline Y Thompson, Julie C Menzies, Joseph C Manning, Jennifer McAnuff, Emily Clare Brush, Francesca Ryde, Tim Rapley, Nazima Pathan, Stephen Brett, David J Moore, Michelle Geary, Gillian A Colville, Kevin P Morris, Roger Charles Parslow, Richard G Feltbower, Sophie Lockley, Fenella J Kirkham, Rob J Forsyth, Barnaby R Scholefield, Paediatric Critical Care Society Study-Group (PCCS-SG) PERMIT Collaborators
Jun 14, 2022
OBJECTIVE: To understand the context and professional perspectives of delivering early rehabilitation and mobilisation (ERM) within UK paediatric intensive care units (PICUs). DESIGN: A web-based survey administered from May...
Early mobilisation and rehabilitation in the PICU
Jacqueline Y Thompson, Julie C Menzies, Joseph C Manning, Jennifer McAnuff, Emily Clare Brush, Francesca Ryde, Tim Rapley, Nazima Pathan, Stephen Brett, David J Moore, Michelle Geary, Gillian A Colville, Kevin P Morris, Roger Charles Parslow, Richard G Feltbower, Sophie Lockley, Fenella J Kirkham, Rob J Forsyth, Barnaby R Scholefield, Paediatric Critical Care Society Study-Group (PCCS-SG) PERMIT Collaborators
Oct 03, 2022
OBJECTIVE: To understand the context and professional perspectives of delivering early rehabilitation and mobilisation (ERM) within UK paediatric intensive care units (PICUs). DESIGN: A web-based survey administered from May...
Management and outcomes following emergency surgery for traumatic brain injury - A multi-centre, international, prospective cohort study (the Global Neurotrauma Outcomes Study).
David Clark, Alexis Joannides, Omar Ibrahim Abdallah, Amos Olufemi Adeleye, Abdul Hafid Bajamal, Tom Bashford, Arnold Bhebhe, Hagos Biluts, Natalia Budohoska, Karol Budohoski, Iype Cherian, Niklas Marklund, Rocio Fernandez Mendez, Tony Figaji, Deepak Kumar Gupta, Corrado Iaccarino, Ali Ilunga, Mathew Joseph, Tariq Khan, Tsegazeab Laeke, Vicknes Waran, Kee Park, Gail Rosseau, Andres Rubiano, Youssuf Saleh, Hamisi K Shabani, Brandon Smith, Kachinga Sichizya, Manoj Tewari, Abenezer Tirsit, Myat Thu, Manjul Tripathi, Rikin Trivedi, Sofia Villar, Indira Devi Bhagavatula, Franco Servadei, David Menon, Angelos Kolias, Peter Hutchinson
Apr 30, 2020
Introduction:Traumatic brain injury (TBI) accounts for a significant amount of death and disability worldwide and the majority of this burden affects individuals in low-and-middle income countries. Despite this, considerable...
Published by: International journal of surgery protocols
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