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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
Elderly versus younger patients with hereditary angioedema type I/II
Anette Bygum, Teresa Caballero, Anete S Grumach, Hilary J Longhurst, Laurence Bouillet, Werner Aberer, Andrea Zanichelli, Jaco Botha, Irmgard Andresen, Marcus Maurer, IOS Study Group
Jul 18, 2020
BACKGROUND: Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is characterized by recurrent swelling in subcutaneous or submucosal tissues. Symptoms often begin by age 5-11 years and worsen during puberty, but...
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....
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...
Emergency surgery for splenic flexure cancer
Nicola de'Angelis, Eloy Espin, Frederic Ris, Filippo Landi, Bertrand Le Roy, Federico Coccolini, Valerio Celentano, Angela Gurrado, Denis Pezet, Giorgio Bianchi, Riccardo Memeo, Giulio C Vitali, Alejandro Solis, Christine Denet, Salomone Di Saverio, Gian Luigi de'Angelis, Miquel Kraft, Paula Gonzálvez-Guardiola, Aine Stakelum, Fausto Catena, David Fuks, Des C Winter, Mario Testini, Aleix Martínez-Pérez, SFC Study Group
Apr 30, 2021
BACKGROUND: The effectiveness of surgical treatment for splenic flexure carcinomas (SFCs) in emergency settings remains unexplored. This study aims to compare the perioperative and long-term outcomes of different alternatives...
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
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...
New perspectives in eosinophilic granulomatosis with polyangiitis (EGPA)
Chiara Marvisi, Renato Alberto Sinico, Carlo Salvarani, David Jayne, Domenico Prisco, Benjamin Terrier, Giacomo Emmi, Augusto Vaglio, European EGPA Study Group
May 27, 2020
The European Eosinophilic Granulomatosis with Polyangiitis (EGPA) study group first gathered in Firenze in December 2018. The discussion was centred around the clinical and therapeutic needs in EGPA which still remain unmet....
Primary post-transplant lymphoproliferative disorder of the central nervous system
Mary M Taj, Britta Maecker-Kolhoff, Rebecca Ling, Simon Bomken, Birgit Burkhardt, Alan KS Chiang, Monika Csoka, Anna Füreder, Stéphanie Haouy, Jelena Lazic, Natalia Miakova, Veronique Minard-Colin, Suzanne D Turner, Anne Uyttebroeck, Andishe Attarbaschi, the international Berlin-Frankfurt-Münster (i-BFM) Study Group European Intergroup for Childhood Non-Hodgkin’s Lymphoma (EICNHL)
Feb 17, 2021
Primary central nervous system (CNS) post-transplant lymphoproliferative disorder (PTLD) in childhood is rare. Twenty-five patients were retrieved from nine European Intergroup for Childhood Non-Hodgkin's Lymphoma and/or...
Central Nervous System outcome post-transplant lymphoproliferative disorder transplant Treatment Adolescent Adult Allografts Brain Neoplasms Child Child Preschool Disease-Free Survival Female Hematopoietic Stem Cell Transplantation Humans Infant Injections Spinal Lymphoproliferative Disorders Male Organ Transplantation Rituximab Survival Rate
The Max-Min Group Contest
We investigate a group all-pay auction in which each group's effort is represented by the minimum among the effort levels exerted by the group members and the prize is a group-specific public good. We fully characterize the...
The Max-Min Group Contest
We investigate a group all-pay auction in which each group's effort is represented by the minimum among the effort levels exerted by the group members and the prize is a group-specific public good. We fully characterize the...
The role of impulse oscillometry in the management of asthma when forced expiratory maneuvers are contraindicated
Objectives: The impulse oscillometry system (IOS) provides an alternative method of lung function testing for patients in whom forced expiratory manoeuvres are contraindicated, such as those with inherited vascular connective...
New Therapeutics in Alzheimer's Disease Longitudinal Cohort study (NTAD)
Impact of COVID-19 pandemic on surgical neuro-oncology multi-disciplinary team decision making
Stephen John Price, Alexis Joannides, Puneet Plaha, Fardad Taghizadeh Afshari, Erminia Albanese, Neil U Barua, Huan Wee Chan, Giles Critchley, Thomas Flannery, Daniel M Fountain, Ryan K Mathew, Rory J Piper, Michael TC Poon, Chittoor Rajaraman, Ola Rominiyi, Stuart Smith, Georgios Solomou, Anna Solth, Surash Surash, Victoria Wykes, Colin Watts, Helen Bulbeck, Peter Hutchinson, Michael D Jenkinson, COVID-CNSMDT study group
Aug 17, 2020
OBJECTIVES: Pressures on healthcare systems due to COVID-19 has impacted patients without COVID-19 with surgery disproportionally affected. This study aims to understand the impact on the initial management of patients with...
An ontological foundation for ocular phenotypes and rare eye diseases.
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N Robinson, Hélène Dollfus, ERN-EYE Ontology Study Group
Feb 15, 2019
BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of...
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
Age, time living with diagnosed HIV infection, and self-rated health.
JA McGowan, L Sherr, AJ Rodger, M Fisher, A Miners, J Anderson, MA Johnson, J Elford, S Collins, G Hart, AN Phillips, A Speakman, FC Lampe, Sexual Transmission Risk and Attitudes (ASTRA) Study Group Antiretrovirals
Oct 26, 2020
OBJECTIVES: An increasing proportion of people living with HIV are older adults, who may require specialized care. Adverse physical and psychological effects of HIV infection may be greatest among older people or those who have...
Environmental commitments and rhetoric over the Pandemic crisis
How do international organisations (IOs) legitimise their right to rule in times of a Pandemic? Where are their previously made environmental commitments on their agenda during a crisis? What are the differences in...
The social network structure of a dynamic group of dairy cows
Natasha K. Boyland, David T. Mlynski, Richard James, Lauren J. N. Brent, Darren P. Croft
Jan 01, 2016
Social relationships have been shown to significantly impact individual and group success in wild animal populations, but are largely ignored in farm animal management. There are substantial gaps in our knowledge of how farm...
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
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...
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