Search
Results: 35793
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
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
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...
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...
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...
Impact of dexamethasone on SARS-CoV-2 concentration kinetics and antibody response in hospitalized COVID-19 patients
Barbara Mühlemann, Charlotte Thibeault, David Hillus, Elisa T Helbig, Lena J Lippert, Pinkus Tober-Lau, Tatjana Schwarz, Marcel A Müller, Pa-COVID-19 collaborative study group, Martin Witzenrath, Norbert Suttorp, Leif E Sander, Christian Drosten, Terry C Jones, Victor M Corman, Florian Kurth
Jul 28, 2021
OBJECTIVES: Dexamethasone has become the standard of care for severe coronavirus disease 2019 (COVID-19), but its virological impact is poorly understood. The objectives of this work were to characterize the kinetics of severe...
Antibody COVID-19 Nucleic Acid Testing Coronavirus disease 2019 (COVID-19) Dexamethasone Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Viral concentration Anti-Inflammatory Agents Antibodies Viral covid-19 Dexamethasone Hospitalization Humans Immunoglobulin A Immunoglobulin G Kinetics Prospective Studies RNA Viral Respiratory System SARS-CoV-2 Seroconversion Viral Load COVID-19 Drug Treatment
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....
Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort.
Vassiliki Bravis, Akaal Kaur, Helen C Walkey, Ian F Godsland, Shivani Misra, Polly J Bingley, Alistair JK Williams, David B Dunger, Colin M Dayan, Mark Peakman, Nick S Oliver, Desmond G Johnston, Patient Advocate Group and Investigators ADDRESS-2 Management Committee
Jul 30, 2018
OBJECTIVES: To describe the characteristics of children and adults with incident type 1 diabetes in contemporary, multiethnic UK, focusing on differences between the islet autoantibody negative and positive. DESIGN...
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
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...
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers
Lieske H Schrijver, Antonis C Antoniou, Håkan Olsson, Thea M Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H Menko, Marian JE Mourits, Christian F Singer, Yen Y Tan, Lenka Foretova, Marie Navratilova, Rita K Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L Hopper, Kelly-Anne Phillips, Roger L Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E Goldgar, Flora E van Leeuwen, Douglas F Easton, Nadine Andrieu, Matti A Rookus, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study Epidemiological Study of Familial Breast Cancer
Apr 21, 2021
BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral contraceptives in the general population are well...
Epidemiological Study of Familial Breast Cancer Gene Etude Prospective Sein Ovaire Sein Hereditary Breast and Ovarian Cancer Research Group Netherlands Humans Ovarian Neoplasms Genetic Predisposition to Disease Contraceptives Oral BRCA1 Protein BRCA2 Protein Proportional Hazards Models Retrospective Studies Cohort Studies Follow-Up Studies Mutation Adult Middle Aged Europe Female
Beyond dehydrocoupling
David J. Liptrot, Merle Arrowsmith, Annie L. Colebatch, Terrance J. Hadlington, Michael S. Hill, Gabriele Kociok-Kohn, Mary F. Mahon
Dec 07, 2015
The alkaline earth bis(trimethylsilyl)amides, [Ae{N(SiMe3)2}2(THF)2] [Ae = Mg, Ca, Sr], are effective pre-catalysts for boron-nitrogen bond formation through the desilacoupling of amines, RR’NH (R = alkyl, aryl; R′ = H, alkyl...
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...
Evaluation of accuracy, exclusivity, limit-of-detection and ease-of-use of LumiraDx™
Lisa J Krüger, Julian AF Klein, Frank Tobian, Mary Gaeddert, Federica Lainati, Sarah Klemm, Paul Schnitzler, Ralf Bartenschlager, Berati Cerikan, Christopher J Neufeldt, Olga Nikolai, Andreas K Lindner, Frank P Mockenhaupt, Joachim Seybold, Terry C Jones, Victor M Corman, Nira R Pollock, Britta Knorr, Andreas Welker, Margaretha de Vos, Jilian A Sacks, Claudia M Denkinger, ACE-IT Study Group
Sep 12, 2021
PURPOSE: Rapid antigen-detecting tests (Ag-RDTs) for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can transform pandemic control. Thus far, sensitivity (≤ 85%) of lateral-flow assays has limited scale-up....
ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.
Adebowale A Adeyemo, Norann A Zaghloul, Guanjie Chen, Ayo P Doumatey, Carmen C Leitch, Timothy L Hostelley, Jessica E Nesmith, Jie Zhou, Amy R Bentley, Daniel Shriner, Olufemi Fasanmade, Godfrey Okafor, Benjamin Eghan, Kofi Agyenim-Boateng, Settara Chandrasekharappa, Jokotade Adeleye, William Balogun, Samuel Owusu, Albert Amoah, Joseph Acheampong, Thomas Johnson, Johnnie Oli, Clement Adebamowo, South Africa Zulu Type 2 Diabetes Case-Control Study, Francis Collins, Georgia Dunston, Charles N Rotimi
Aug 19, 2019
Genome analysis of diverse human populations has contributed to the identification of novel genomic loci for diseases of major clinical and public health impact. Here, we report a genome-wide analysis of type 2 diabetes (T2D) in...
Africa Northern Animals Apoptosis Base Sequence Blood Glucose CRISPR-Cas Systems DNA Helicases Diabetes mellitus Type 2 Disease Models Animal Female Gene Editing Gene Knockout Techniques Genetic Association Studies Genetic Predisposition to Disease Genotype Ghana Glucose Homozygote Humans Insulin Insulin-Secreting Cells Kenya Male Mice Middle Aged Mutation Nigeria Polymorphism Single Nucleotide RNA Small Interfering Transcription Factor 7-Like 2 Protein Transcriptome Zebrafish
Beyond dehydrocoupling
David J. Liptrot, Merle Arrowsmith, Annie L. Colebatch, Terrance J. Hadlington, Michael S. Hill, Gabriele Kociok-Kohn, Mary F. Mahon
Dec 07, 2015
The alkaline earth bis(trimethylsilyl)amides, [Ae{N(SiMe3)2}2(THF)2] [Ae = Mg, Ca, Sr], are effective pre-catalysts for boron-nitrogen bond formation through the desilacoupling of amines, RR’NH (R = alkyl, aryl; R′ = H, alkyl...
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...
Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models.
Farideh Jalali-Najafabadi, Michael Stadler, Nick Dand, Deepak Jadon, Mehreen Soomro, Pauline Ho, Helen Marzo-Ortega, Philip Helliwell, Eleanor Korendowych, Michael A Simpson, Jonathan Packham, Catherine H Smith, Jonathan N Barker, Neil McHugh, Richard B Warren, Anne Barton, John Bowes, BADBIR Study Group, BSTOP Study Group
Dec 15, 2021
In view of the growth of clinical risk prediction models using genetic data, there is an increasing need for studies that use appropriate methods to select the optimum number of features from a large number of genetic variants...
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...
Mesothelioma and Radical Surgery 2 (MARS 2)
Eric Lim, Liz Darlison, John Edwards, Daisy Elliott, DA Fennell, Sanjay Popat, Robert C Rintoul, David Waller, Clinton Ali, Andrea Bille, Liz Fuller, Andreea Ionescu, Manjusha Keni, Alan Kirk, Pek Koh, Kelvin Lau, Talal Mansy, Nick A Maskell, Richard Milton, Dakshinamoorthy Muthukumar, Tony Pope, Amy Roy, Riyaz Shah, Jonathan Shamash, Zacharias Tasigiannopoulos, Paul Taylor, Sarah Treece, Kate Ashton, Rosie Harris, Katherine Joyce, Barbara Warnes, Nicola Mills, Elizabeth A Stokes, Chris Rogers, MARS 2 Trialists
Feb 08, 2021
INTRODUCTION: Mesothelioma remains a lethal cancer. To date, systemic therapy with pemetrexed and a platinum drug remains the only licensed standard of care. As the median survival for patients with mesothelioma is 12.1 months...
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
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...
|
|< |
< |
1 |