2,890 results on '"St George’s University Hospitals"'
Search Results
2. Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) (RIDGE)
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University of California, San Francisco, Brigham and Women's Hospital, New York University, University of Colorado, Denver, Johns Hopkins University, The Cleveland Clinic, Mayo Clinic, Medical University of South Carolina, Hopital Louis Pradel, Istituti Clinici Scientifici Maugeri SpA, The Queen Elizabeth Hospital, St George's University Hospitals NHS Foundation Trust, Royal Brompton & Harefield NHS Foundation Trust, Barts & The London NHS Trust, Skane University Hospital, Centro Cardiologico Monzino, Hôpital Haut-Lévêque, Nantes University Hospital, Pitié-Salpêtrière Hospital, Wuerzburg University Hospital, and University Hospital Muenster
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- 2024
3. Use of Artificial Intelligence in the Symptomatic BReAst Clinic SEtting
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Imperial College Healthcare NHS Trust, St George's University Hospitals NHS Foundation Trust, and Royal Surrey County Hospital NHS Foundation Trust
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- 2024
4. Cognitive Rehabilitation for People With Cognitive Covid19
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Bangor University, St George's University Hospitals NHS Foundation Trust, University of Brighton, University Hospital Southampton NHS Foundation Trust, and Greater Manchester Mental Health NHS Foundation Trust
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- 2024
5. A Randomised Trial of Expedited Transfer to a Cardiac Arrest Centre for Non-ST Elevation Out-of-hospital Cardiac Arrest (ARREST)
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King's College London, London School of Hygiene and Tropical Medicine, Barts & The London NHS Trust, King's College Hospital NHS Trust, Imperial College Healthcare NHS Trust, Royal Brompton & Harefield NHS Foundation Trust, Royal Free Hospital NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, and London Ambulance Service NHS Trust
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- 2024
6. European Pregnancy and Paediatric Infections Cohort Collaboration (EPPICC) SARS-CoV-2 Antibody Study Protocol. Covid-19 (SARS-Cov2)
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Hospital st pierre, Belgium, University of Athens, University of Cape Town, Hospital General Universitario Gregorio Marañon, Hospital Sant Joan de Deu, Great Ormond Street Hospital for Children NHS Foundation Trust, Guy's and St Thomas' NHS Foundation Trust, North Manchester General Hospital (Northern Care Alliance NHS Group), Manchester, University Hospital Birmingham NHS Foundation Trust, Imperial College Healthcare NHS Trust, King's College Hospital NHS Trust, St George's University Hospitals NHS Foundation Trust, CHIPS+ cohort, and MRC Clinical Trials Unit at UCL
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- 2024
7. Deep Brain Stimulation in Tourette Syndrome (Op-TICS)
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National Institute for Health Research, United Kingdom, University College London Hospitals, Northern Care Alliance NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, Royal Devon and Exeter NHS Foundation Trust, University of Bristol, University of Dundee, London School of Hygiene and Tropical Medicine, King's College London, University Hospital, Rouen, and Imperial College London
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- 2024
8. Finding the Invasive Haemodynamic Threshold for Symptom Relief in Stable Angina (ORBITA-FIRE)
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Royal Free Hospital NHS Foundation Trust, Mid and South Essex NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, Royal Bournemouth and Christchurch Hospitals NHS Foundation Trust, and Portsmouth Hospitals NHS Trust
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- 2024
9. Cytomegalovirus Shedding Characteristics in Pregnant Women (cCHIPS)
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St George's University Hospitals NHS Foundation Trust
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- 2023
10. The Experiences of Children and Caregivers Given PICU Storybooks
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St George's University Hospitals NHS Foundation Trust
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- 2023
11. Eosinophilic Oesophagitis Assessment With String Testing (EoEAST)
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University Hospital Southampton NHS Foundation Trust and St George's University Hospitals NHS Foundation Trust
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- 2023
12. Real-life Prospective Evaluation of Computer-aided Detection (CAD) of Barrett's Neoplasia (MetaVision)
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St George's University Hospitals NHS Foundation Trust, Brighton and Sussex University Hospitals NHS Trust, and University Hospitals Dorset NHS Foundation Trust
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- 2023
13. Genetic Determinants of Kidney Disease in People of African Ancestry With HIV (GEN-AFRICA)
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Guy's and St Thomas' NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, Lewisham and Greenwich NHS Trust, Royal Free Hospital NHS Foundation Trust, Central and North West London NHS Foundation Trust, Barts & The London NHS Trust, Chelsea and Westminster NHS Foundation Trust, Imperial College Healthcare NHS Trust, North Middlesex University Hospital NHS Trust, Brighton and Sussex University Hospitals NHS Trust, The Leeds Teaching Hospitals NHS Trust, Manchester University NHS Foundation Trust, Newcastle-upon-Tyne Hospitals NHS Trust, South Tees Hospitals NHS Foundation Trust, Africa Advocacy Foundation, Vanderbilt University, University of Cape Town, University of Pennsylvania, Medical Research Council, Guy's and St. Thomas' Charity, British HIV Association, and Gilead Sciences
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- 2023
14. Intervention With Cerebral Embolic Protection in TEVAR: Gaseous Protection (INTERCEPT:GP)
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Imperial College Healthcare NHS Trust, Guy's and St Thomas' NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, University Hospitals Coventry and Warwickshire NHS Trust, South Canterbury DHB, New Zealand, Baylor Scott and White Health, University Hospital Southampton NHS Foundation Trust, and Health New Zealand
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- 2023
15. A Study Comparing Urolift and TURP Ahead of Radiotherapy in Men With Urinary Symptoms Secondary to Prostate Enlargement (CO-STAR)
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King's College London, St George's University Hospitals NHS Foundation Trust, Institute of Cancer Research, United Kingdom, North Cumbria University Hospitals NHS Trust, University College, London, and City, University of London
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- 2023
16. Non-invasive Rapid Assessment of NAFLD Using Magnetic Resonance Imaging With LiverMultiScan (RADIcAL1)
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University of Coimbra, University Hospital Ulm, Leiden University Medical Center, Liverpool University Hospitals NHS Foundation Trust, University Hospital Southampton NHS Foundation Trust, King's College Hospital NHS Trust, NHS Greater Glasgow and Clyde, Glasgow Royal Infirmary, Ninewells Hospital, Royal Infirmary of Edinburgh, and St George's University Hospitals NHS Foundation Trust
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- 2023
17. The CAVA Multicentre Dizziness Trial (CAVA 2)
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University Hospitals, Leicester, St George's University Hospitals NHS Foundation Trust, Gloucestershire Hospitals NHS Foundation Trust, University Hospital Birmingham NHS Foundation Trust, Mid and South Essex NHS Foundation Trust, and Guy's and St Thomas' NHS Foundation Trust
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- 2023
18. Microwave Imaging in NeuroTrauma (MINT)
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Air Ambulance Charity Kent, Surrey, Sussex, St George's University Hospitals NHS Foundation Trust, and Medfield Diagnostics AB
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- 2023
19. Coronary Sinus Reducer Implantation in Patients With Ischaemia and Non-obstructed Coronary Arteries and Coronary Microvascular Dysfunction. (REMEDY-PILOT)
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Bradford Teaching Hospitals NHS Foundation Trust, East and North Hertfordshire NHS Trust, Epsom and St Helier University Hospitals NHS Trust, Guy's and St Thomas' NHS Foundation Trust, Imperial College Healthcare NHS Trust, Kingston Hospital NHS Trust, London North West Healthcare NHS Trust, Oxford University Hospitals NHS Trust, Royal Brompton & Harefield NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, and Liverpool University Hospitals NHS Foundation Trust
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- 2023
20. VideoEndoscopic Radical Inguinal Lymphadenectomy for Penile Cancer (VELRAD)
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The Christie NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, and Norfolk and Norwich University Hospitals NHS Foundation Trust
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- 2023
21. RElated Haplo-DonoR Haematopoietic stEm Cell Transplantation for Adults With Severe Sickle Cell Disease (REDRESS)
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King's College London, University of Sheffield, Sheffield Teaching Hospitals NHS Foundation Trust, Imperial College Healthcare NHS Trust, Guy's and St Thomas' NHS Foundation Trust, University College London Hospitals, Manchester University NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, Barts & The London NHS Trust, and National Institute for Health Research, United Kingdom
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- 2023
22. Duroplasty for Injured Cervical Spinal Cord With Uncontrolled Swelling (DISCUS)
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St George's University Hospitals NHS Foundation Trust, St. Mary's University, Twickenham, University of Bristol, Ohio State University, University of Cambridge, University of Oxford, and Buckinghamshire Healthcare NHS Trust
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- 2022
23. Perfusion by Arterial Spin Labelling Following Single Dose Tadalafil in Small Vessel Disease (PASTIS) Trial (PASTIS)
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Alzheimer's Drug Discovery Foundation, Alzheimer's Society, University of Copenhagen, University of Glasgow, and St George's University Hospitals NHS Foundation Trust
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- 2022
24. Reduction in Arrhythmia Burden With Left Atrial Posterior Wall Ablation for Persistent AF (RABLAP-AF)
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Biosense Webster, Inc., Royal Brompton & Harefield NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, University Hospital Plymouth NHS Trust, South Tees Hospitals NHS Foundation Trust, Manchester University NHS Foundation Trust, Guy's and St Thomas' NHS Foundation Trust, Papworth Hospital NHS Foundation Trust, Portsmouth Hospitals NHS Trust, University Hospitals Dorset NHS Foundation Trust, University Hospital Birmingham NHS Foundation Trust, Onze Lieve Vrouw Hospital, AZ Sint-Jan AV, and University of Liverpool
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- 2022
25. Information Needs Around Parenteral nUTrition in Cancer (INPUT)
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St George's University Hospitals NHS Foundation Trust, University College London Hospitals, University of Southampton, and London North West Healthcare NHS Trust
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- 2022
26. Non-medical Practitioner Workforce in the Urgent and Emergency Care System Skill-mix in England (SKILLmix-ED)
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National Institute for Health Research, United Kingdom, St George's University Hospitals NHS Foundation Trust, Surrey and Sussex Healthcare NHS Trust, University of Surrey, and Royal Holloway University
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- 2022
27. Serratus Plane Block With Parenteral Opioid Analgesia Versus Patient Controlled Analgesia in Rib Fractures (COPE)
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St George's University Hospitals NHS Foundation Trust
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- 2021
28. Primary Prevention of Cytomegalovirus in Pregnancy: Addressing the Gaps (CMV GAP) (CMV GAP)
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St George's, University of London, University College, London, St George's University Hospitals NHS Foundation Trust, CMV Action, Kingston University, University of Cambridge, and University of Southampton
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- 2021
29. COVIDAR - Arrhythmias in COVID-19 (COVIDAR)
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Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA), Istituto Auxologico Italiano, St George's University Hospitals NHS Foundation Trust, University Hospital, Antwerp, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARDHEART), and European Society of Cardiology
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- 2020
30. The Trauma INtramuscular Tranexamic Acid Clinical Trial (TraumaINTACT)
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Barts & The London NHS Trust, St George's University Hospitals NHS Foundation Trust, University of Versailles, and JP Moulton Charitable Foundation
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- 2020
31. Intravascular Balloon Lithotripsy in Left Main Stem Percutaneous Coronary Intervention
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St George's University Hospitals NHS Foundation Trust and Shockwave Medical, Inc.
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- 2020
32. Echocardiography: Value and Accuracy at REst and STress (EVAREST)
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Oxford University Hospitals NHS Trust, Royal United Hospital Bath NHS Trust, Tameside Hospital NHS Foundation Trust, Royal Berkshire NHS Foundation Trust, East Lancashire Hospitals NHS Trust, Bradford Teaching Hospitals NHS Foundation Trust, Calderdale and Huddersfield NHS Foundation Trust, Great Western Hospitals NHS Foundation Trust, Mid Essex Hospital NHS Trust, Buckinghamshire Healthcare NHS Trust, Wrightington, Wigan and Leigh NHS Foundation Trust, Chelsea and Westminster NHS Foundation Trust, Milton Keynes University Hospital NHS Foundation Trust, University Hospitals Bristol and Weston NHS Foundation Trust, North Middlesex University Hospital, Northumbria Healthcare NHS Foundation Trust, London North West Healthcare NHS Trust, St George's University Hospitals NHS Foundation Trust, Ultromics Ltd, National Institute for Health Research, United Kingdom, King's College Hospital NHS Trust, Guy's and St Thomas' NHS Foundation Trust, Poole Hospital NHS Foundation Trust, Blackpool Teaching Hospitals NHS Foundation Trust, Mid Yorkshire Teaching NHS Trust, Northampton General Hospital NHS Trust, North West Anglia NHS Foundation Trust, Yeovil District Hospital NHS Foundation Trust, East Suffolk and North Essex NHS Foundation Trust, Nottingham University Hospitals NHS Trust, Hampshire Hospitals NHS Foundation Trust, and Lantheus Medical Imaging
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- 2020
33. Beta-blockers for Oesophageal Varices (BOPPP)
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King's College London, Guy's and St Thomas' NHS Foundation Trust, St George's University Hospitals NHS Foundation Trust, Cardiff University, and Brighton and Sussex University Hospitals NHS Trust
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- 2019
34. TAPS2 Transfusion Antenatally in Pregnant Women With SCD (TAPS2)
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King's College Hospital NHS Trust, Barts & The London NHS Trust, The Whittington Hospital NHS Trust, St Mary's NHS Trust, University College London Hospitals, St George's University Hospitals NHS Foundation Trust, London School of Hygiene and Tropical Medicine, King's College London, and University of Southampton
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- 2019
35. Project Grow: Establishing an Intergenerational Falls Prevention Gardening Programme (PGROW)
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St George's University Hospitals NHS Foundation Trust and Sandra Klaperski, Senior Lecturer in Sport and Exercise Psychology
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- 2017
36. The Effects of a Water Based Exercise Programme and a Land Based Exercise Programme on Women Experiencing Pregnancy Related Pelvic Girdle Pain
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St George's University Hospitals NHS Foundation Trust
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- 2017
37. Ketogenic Diet in Infants With Epilepsy (KIWE) (KIWE)
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Great Ormond Street Hospital for Children NHS Foundation Trust, Cambridge University Hospitals NHS Foundation Trust, Alder Hey Children's NHS Foundation Trust, Bristol Royal Hospital for Children, Birmingham Women's and Children's NHS Foundation Trust, The Leeds Teaching Hospitals NHS Trust, Manchester University NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, National Institute for Health Research, United Kingdom, Lancashire Care NHS Foundation Trust, Newcastle-upon-Tyne Hospitals NHS Trust, and St George's University Hospitals NHS Foundation Trust
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- 2017
38. Advances in Group-based Falls Rehabilitation
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University College London Hospitals, Guy's and St Thomas' NHS Foundation Trust, and St George's University Hospitals NHS Foundation Trust
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- 2017
39. Practical approaches to building up a cardiorenal clinic
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Rafael de la Espriella, Marta Cobo Marcos, Claudio Ronco, Debasish Banerjee, Miguel González, José Luis Górriz, Borja Quiroga, María José Soler, Javier Díez, Julio Núñez, Institut Català de la Salut, [de la Espriella R] Department of Cardiology, Hospital Clínico Universitario de Valencia, Valencia, Spain. [Marcos MC] Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain. Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain. [Ronco C] Department of Medicine, University of Padova, Padova, Italy. International Renal Research Institute of Vicenza, Vicenza, Italy. Department of Nephrology, San Bortolo Hospital, Vicenza, Italy. [Banerjee D] Renal and Transplantation Unit, St George’s University Hospitals National Health Service Foundation Trust, London, UK. Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Institute, St George’s, University of London, London, UK. [González M, Górriz JL] Department of Nephrology, Hospital Clínico Universitario de Valencia, Valencia, Spain. Department of Medicine, Universitat de Valencia, Valencia, Spain. [Soler MJ] Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca de Nefrologia i Trasplantament Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
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Cardiovascular Diseases::Heart Diseases::Heart Failure::Cardio-Renal Syndrome [DISEASES] ,Transplantation ,Cor - Malalties - Tractament ,Cardiovascular Diseases::Heart Diseases::Heart Failure [DISEASES] ,Nephrology ,enfermedades cardiovasculares::enfermedades cardíacas::insuficiencia cardíaca::síndrome cardiorrenal [ENFERMEDADES] ,enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::insuficiencia renal::insuficiencia renal crónica [ENFERMEDADES] ,Other subheadings::/therapy [Other subheadings] ,Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Insufficiency::Renal Insufficiency, Chronic [DISEASES] ,enfermedades cardiovasculares::enfermedades cardíacas::insuficiencia cardíaca [ENFERMEDADES] ,Ronyons - Malalties - Tractament ,Otros calificadores::/terapia [Otros calificadores] - Abstract
Cardiorenal clinics; Cardiorenal disease; Cardiorenal program Clínicas cardiorrenales; Enfermedad cardiorrenal; Programa cardiorrenal Clíniques cardiorenals; Malaltia cardiorenal; Programa cardiorenal The population with concomitant heart and kidney disease (often termed ‘cardiorenal’ disease) is expected to grow, significantly impacting public health and healthcare utilization. Moreover, the cardiorenal nexus encompasses a bidirectional relationship that worsens prognosis and may complicate pharmacological management in often elderly and frail patients. Therefore, a more cohesive multidisciplinary team approach aiming to provide holistic, coordinated and specialized care would be a positive shift towards improving patient outcomes and optimizing healthcare resources. This article aims to define the organizational aspects and key elements for setting up a multidisciplinary cardiorenal clinical program as a potential healthcare model adapted to the particular characteristics of patients with cardiorenal disease.
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- 2023
40. The Interventional Radiology (IR) Gender Gap: A Prospective Online Survey by the Cardiovascular and Interventional Radiological Society of Europe (CIRSE)
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Belli, Anna [St. George’s University Hospitals NHS Foundation Trust, Diagnostic and Interventional Radiology Department (United Kingdom)]
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- 2018
- Full Text
- View/download PDF
41. Molecular characterization of fast-growing melanomas
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Anderson Loundou, Gabriela Gremel, Richard Marais, Martin G. Cook, Caroline Gaudy-Marqueste, Eduardo Nagore, Nicolas Macagno, Piyushkumar A. Mundra, Timothy Budden, Victoria Akhras, L'Houcine Ouafik, Lijing Lin, J.J. Grob, Eric Pellegrino, Rajesh Kumar, Amaya Viros, Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM), Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Laboratoire de Transfert d'Oncologie Biologique [Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital Nord [CHU - APHM], Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Cancer Research UK Manchester Institute, University of Manchester [Manchester], St George’s University Hospitals, Faculty of Biology, Medicine and Health [Manchester, UK], German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), and Instituto Valenciano de Oncologia
- Subjects
Oncology ,medicine.medical_specialty ,Skin Neoplasms ,medicine.medical_treatment ,[SDV.CAN]Life Sciences [q-bio]/Cancer ,Dermatology ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Prospective Studies ,Prospective cohort study ,Melanoma ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,0303 health sciences ,business.industry ,Tumor biology ,Fibroblast growth factor receptor 2 ,Prognosis ,medicine.disease ,Methods observational ,3. Good health ,030220 oncology & carcinogenesis ,Mutation ,business ,Adjuvant ,Memory bias ,Rate of growth - Abstract
Background The rate of growth of primary melanoma is a robust predictor of aggressiveness, but the mutational profile of fast-growing melanomas (FGMM) and the potential to stratify patients at high risk of death has not been comprehensively studied. Objective To investigate the epidemiologic, clinical, and mutational profile of primary cutaneous melanomas with a thickness ≥ 1 mm, stratified by rate of growth. Methods Observational prospective study. Deep-targeted sequencing of 40 melanoma driver genes on formalin fixed, paraffin-embedded primary melanoma samples. Comparison of FGMM (rate of growth > 0.5 mm/month) and nonFGMM (rate of growth ≤ 0.5 mm/month). Results Two hundred patients were enrolled, among wom 70 had FGMM. The relapse-free survival was lower in the FGMM group (P = .014). FGMM had a higher number of predicted deleterious mutations within the 40 genes than nonFGMM (P = .033). Ulceration (P = .032), thickness (P = .006), lower sun exposure (P = .049), and fibroblast growth factor receptor 2 (FGFR2) mutations (P = .037) were significantly associated with fast growth. Limitations Single-center study, cohort size, potential memory bias, number of investigated genes. Conclusion Fast growth is linked to specific tumor biology and environmental factors. Ulceration, thickness, and FGFR2 mutations are associated with fast growth. Screening for FGFR2 mutations might provide an additional tool to better identify FGMM, which are probably good candidates for adjuvant therapies.
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- 2022
- Full Text
- View/download PDF
42. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
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Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, UCL, Institute of Neurology [London], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), William Harvey Research Institute, Barts and the London Medical School, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Weill Cornell Medicine [New York], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), University Hospital Leipzig, University Hospital Düsseldorf, St George’s University Hospitals, Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), University College London Hospitals NHS Foundation Trust [London, UK] (UCLH), Centre Hospitalier de Versailles André Mignot (CHV), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Auteur indépendant, University of Pécs Medical School (UP MS), University of Pecs, Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), University of Utah School of Medicine [Salt Lake City], Princess Anne Hospital [Southampton, UK] (PAH), University of Southampton, University Hospital Southampton NHS Foundation Trust, Department of Pathology [Yale], Yale School of Medicine [New Haven, Connecticut] (YSM), H.M., J.V., and H.H. are supported by an Medical Research Council strategic award, MR/S005021/1, to establish International Centre for Genomic Medicine in Neuromuscular Diseases. H.M. is supported by Wellcome Trust grant 220906/Z/20/Z. H.H. is funded by the Medical Research Council (MR/S01165X/1, MR/S005021/1, G0601943), NIHR University College London Hospitals Biomedical Research Centre, Rosetree Trust UK, Ataxia UK, Multiple System Atrophy Trust, Brain Research UK, Sparks GOSH Charity, Muscular Dystrophy UK, and Multiple System Atrophy Trust. R.But. is supported by the Penelope Rare and Undiagnosed Disease Program at the University of Utah with funding from the Center for Genomic Medicine and with support from Matt Velinder (Department of Human Genetics, University of Utah) and Rong Mao and Pinar Bayrak-Toydemir (ARUP Laboratories). B.M. is supported by NKFIH K138669. This research was made possible through access to the data and findings generated by the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health and Care Research and NHS England. The Wellcome Trust, Cancer Research UK, and the Medical Research Council have also funded the research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support. This study makes use of data generated by the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) community. A full list of centers which contributed to the generation of the data is available at https://deciphergenomics.org/about/stats and via email from contact@deciphergenomics.org. Funding for the DECIPHER project was provided by Wellcome. We are thankful to the Deciphering Developmental Disorders Study for the invaluable collaboration. The Deciphering Developmental Disorders Study (Cambridge South Research Ethics Committee approval 10/H0305/83 and the Republic of Ireland Research Ethics Committee GEN/284/12) presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and Department of Health and the Wellcome Trust Sanger Institute (grant number WT098051), MORNET, Dominique, Nottingham University Hospitals NHS Trust (NUH), Weill Cornell Medicine [Cornell University], and Cornell University [New York]
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[SDV] Life Sciences [q-bio] ,Developmental delay ,[SDV]Life Sciences [q-bio] ,Hereditary spastic paraplegia ,Genetics (clinical) ,Hereditary ataxia ,SPTAN1 ,Developmental epileptic encephalopathy - Abstract
On behalf of Queen Square Genomics On behalf of Genomics England Research Consortium; International audience; Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants.Methods: We carried out SPTAN1 gene enrichment analysis in the rare disease component of the 100,000 Genomes Project and screened 100,000 Genomes Project, DECIPHER database, and GeneMatcher to identify individuals with SPTAN1 variants. Functional studies were performed on fibroblasts from 2 patients.Results: Statistically significant enrichment of rare (minor allele frequency < 1 × 10-5) probably damaging SPTAN1 variants was identified in families with hereditary ataxia (HA) or hereditary spastic paraplegia (HSP) (12/1142 cases vs 52/23,847 controls, p = 2.8 × 10-5). We identified 31 individuals carrying SPTAN1 heterozygous variants or deletions. A total of 10 patients presented with pure or complex HSP/HA. The remaining 21 patients had developmental delay and seizures. Irregular αII-spectrin aggregation was noted in fibroblasts derived from 2 patients with p.(Arg19Trp) and p.(Glu2207del) variants.Conclusion: We found that SPTAN1 is a genetic cause of neurodevelopmental disorder, which we classified into 3 distinct subgroups. The first comprises developmental epileptic encephalopathy. The second group exhibits milder phenotypes of developmental delay with or without seizures. The final group accounts for patients with pure or complex HSP/HA.
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- 2022
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43. The European Cardiac Arrhythmia Genetics (ECGen) Focus Group
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Elijah R. Behr, Carol Ann Remme, Christophe Leclercq, Cardiology, ACS - Heart failure & arrhythmias, APH - Methodology, Amsterdam UMC, Laboratoire Traitement du Signal et de l'Image (LTSI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), St George’s University Hospitals, Amsterdam UMC - Amsterdam University Medical Center, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Jonchère, Laurent
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[SDV.IB] Life Sciences [q-bio]/Bioengineering ,0303 health sciences ,medicine.medical_specialty ,business.industry ,Cardiac arrhythmia ,Arrhythmias, Cardiac ,Focus Groups ,030204 cardiovascular system & hematology ,Focus group ,Defibrillators, Implantable ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Cardiology ,Humans ,Medicine ,[SDV.IB]Life Sciences [q-bio]/Bioengineering ,Cardiology and Cardiovascular Medicine ,business ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology - Abstract
International audience
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- 2021
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44. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
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Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini, UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, Sorbonne Université (SU), University of Adelaide, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Université de Sherbrooke (UdeS), Women’s and Children’s Hospital [Adelaide], St George’s University Hospitals, Genetic Health Service New Zealand, Great Ormond Street Hospital for Children NHS Foundation Trust, Partenaires INRAE, University of Mississippi Medical Center (UMMC), Dartmouth Hitchcock Medical Center, University of Modena and Reggio Emilia, Hôpital Robert Debré, Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Necker, King-Edward Memorial Hospital, Perth, Australia., Birmingham Women’s and Children’s Hospitals NHS Foundation Trust, Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), Chaim Sheba Medical Center, IRCCS Istituto delle Scienze Neurologiche di Bologna [Bologna, Italy], Ospedale Bellaria [Bologna, Italy], University of Manitoba [Winnipeg], University of California, Ohio State University [Columbus] (OSU), Ghent University Hospital, GeneDx [Gaithersburg, MD, USA], Starship Children's Hospital, University of Auckland [Auckland], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), NHMRC grants APP1155224 and APP1091593 and Channel 7 Children’s Research Foundation, National Human Genome Research Institute of the National Institutes of Health under Award Number U01HG009599, Gall, Valérie, University of California (UC), ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)
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Male ,Care4Rare Canada Consortium ,[SDV]Life Sciences [q-bio] ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Deafness ,Loss of Function Mutation ,Intellectual disability ,Genetics research ,2.1 Biological and endogenous factors ,Medicine ,Missense mutation ,Aetiology ,Child ,Genetics (clinical) ,Genetics & Heredity ,Dystonia ,Genetics ,0303 health sciences ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Liver Disease ,030305 genetics & heredity ,Neurodevelopmental disorders ,Syndrome ,Phenotype ,Pedigree ,3. Good health ,[SDV] Life Sciences [q-bio] ,Child, Preschool ,Medical genetics ,Female ,medicine.symptom ,Adult ,medicine.medical_specialty ,Adolescent ,Clinical Sciences ,Mutation, Missense ,Asymptomatic ,Article ,03 medical and health sciences ,Rare Diseases ,Clinical Research ,Intellectual Disability ,Humans ,Preschool ,Loss function ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,business.industry ,Neurosciences ,Membrane Proteins ,medicine.disease ,Brain Disorders ,Xq28 ,Hereditary Central Nervous System Demyelinating Diseases ,Mutation ,Missense ,Digestive Diseases ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF) and one missense). Patients had severe intellectual disability (ID), dystonia, deafness, and central hypomyelination, delineating a so-called deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Female carriers are mostly asymptomatic but may present with deafness. BCAP31 is flanked by the SLC6A8 and ABCD1 genes. Contiguous deletions of BCAP31 and ABCD1 and/or SLC6A8 have been described in 12 patients. Patients with deletions including BCAP31 and SLC6A8 have the same phenotype as BCAP31 patients. Patients with deletions of BCAP31 and ABCD1 have contiguous ABCD1 and DXS1375E/BCAP31 deletion syndrome (CADDS), and demonstrate a more severe neurological phenotype with cholestatic liver disease and early death. We report 17 novel families, 14 with intragenic BCAP31 variants (LoF and missense) and three with a deletion of BCAP31 and adjacent genes (comprising two CADDS patients, one male and one symptomatic female). Our study confirms the phenotype reported in males with intragenic LoF variants and shows that males with missense variants exhibit a milder phenotype. Most patients with a LoF pathogenic BCAP31 variant have permanent or transient liver enzyme elevation. We further demonstrate that carrier females (n = 10) may have a phenotype comprising LD, ID, and/or deafness. The male with CADDS had a severe neurological phenotype, but no cholestatic liver disease, and the symptomatic female had moderate ID and cholestatic liver disease.
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- 2021
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45. Transiliac Paraendograft Embolisation of Type 2 Endoleak: An Alternative Approach for Endoleak Management
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Morgan, R. [St George’s University Hospitals, Department of Radiology (United Kingdom)]
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- 2016
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46. Standardising definitions for the pre-eclampsia core outcome set: A consensus development study
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Duffy, J. M. N., Cairns, A. E., Magee, L. A., von Dadelszen, P., van 't Hooft, J., Gale, C., Brown, M., Chappell, L. C., Grobman, W. A., Fitzpatrick, R., Karumanchi, S. A., Lucas, D. N., Mol, B., Stark, M., Thangaratinam, S., Wilson, M. J., Williamson, P. R., Ziebland, S., Mcmanus, R. J., Abalos, E. J., Adamson, C. C. D., Akadri, A. A., Akturk, Z., Allegaert, K., Angel-Muller, E., Antretter, J., Ashdown, H. F., Audibert, F., Auger, N., Aygun, C., Babic, I., Bagga, R., Baker, J. M., Beebeejaun, Y., Bhakta, P., Bhandari, V., Bhattacharya, S., Blanker, M. H., Bloomfield, F. H., Bof, A., Brennan, S. M., Broekhuijsen, K., Broughton Pipkin, F., Browne, J. L., Browning, R. M., Bull, J. W., Butt, A., Button, D., Campbell, J. P., Campbell, D. M., Carbillon, L., Carthy, S., Casely, E., Cave, J. A., Cecatti, J. G., Chamillard, M. E., Chassard, D., Checheir, N. C., Chulkov, V. S., Cluver, C. A., Crawford, C. F., Daly, M. C., Darmochwal-Kolarz, D. A., Davies, R. E., Davies, M. W., Dawson, J. S., Dobson, N., Dodd, C. N., Donald, F., Duley, L., Epstein-Mares, J., Erez, O., Evans, E., Farlie, R. N., Ferris, A. V., Frankland, E. M., Freeman, D. J., Gainder, S., Ganzevoort, W., Gbinigie, O. A., Gerval, M. -O., Ghosh, S. K., Gingel, L. J., Glogowska, M., Goodlife, A., Gough, K. L., Green, J. R., Gul, F., Haggerty, L., Hall, D. R., Hallman, M., Hamilton, L. M., Hammond, S. J., Harlow, S. D., Hays, K. E., Hickey, S. C., Higgins, M., Hinton, L., Hobson, S. R., Hogg, M. J., Hollands, H. J., Homer, C. S. E., Hoodbhoy, Z., Howell, P., Huppertz, B., Husain, S., Jacoby, S. D., Jacqz-Aigrain, E., Jenkins, G., Jewel, D., Johnson, M. J., Johnston, C. L., Jones, P. M., Kantrowitz-Gordon, I., Khan, R. -U., Kirby, L. J., Kirk, C., Knight, M., Korey, M. T., Lee, G. J., Lee, V. W., Levene, L. S., Londero, A. P., Lust, K. M., Mackenzie, V., Malha, L., Mattone, M., Mccartney, D. E., Mcfadden, A., Mckinstry, B. H., Middleton, P. F., Mills, D. J., Mistry, H. D., Mitchell, C. A., Mockler, J. C., Molsher, S. -A., Monast, E. S., Moodley, J., Mooij, R., Moore, E. L., Morgan, L., Moulson, A., Mughal, F., Mundle, S. R., Munoz, M. A., Murray, E., Nagata, C., Nair, A. S., Nakimuli, A., Nath, G., Newport, R. S., Oakeshott, P., Ochoa-Ferraro, M. R., Odendaal, H., Ohkuchi, A., Oliveira, L., Ortiz-Panozo, E., Oudijk, M. A., Oygucu, S. E., Paech, M. J., Painter, R. C., Parry, C. L., Payne, B. A., Pearson, E. L., Phupong, V., Pickett, N., Pickles, K. A., Plumb, L. K., Prefumo, F., Preston, R., Ray, J. G., Rayment, J., Regan, L. V., Rey, E., Robson, E. J., Rubin, A. N., Rubio-Romero, J. A., Rull, K., Sass, N., Sauve, N., Savory, N. A., Scott, J. R., Seaton, S. E., Seed, P. T., Shakespeare, J. M., Shand, A. W., Sharma, S., Shaw, T. Y., Smedley, K. L., Smith, D., Smith Conk, A., Soward, D., Stepan, H., Stroumpoulis, K., Surendran, A., Takeda, S., Tan, L., Theriot, B. S., Thomas, H. F., Thompson, K., Thompson, P. I., Thompson, M. J., Toms, L., Torney, K. L. H. T., Treadwell, J. S., Tucker, K. L., Turrentine, M. A., Van Hecke, O., Van Oostwaard, M. F., Vasquez, D. N., Vaughan, D. J. A., Vinturache, A., Walker, J., Wardle, S. P., Wasim, T., Waters, J. H., Whitehead, C. L., Wolfson, A., Yeo, S., Zermansky, A. G., (iHOPE), International Collaboration to Harmonise Outcomes for Pre-eclampsia, Life Course Epidemiology (LCE), University of Oxford, University College London, King’s College London, Academic Medical Center, Imperial College London, St George Hospital and University of New South Wales, Northwestern University, Cedars-Sinai Medical Center, London North West University Healthcare NHS Trust, Monash University, University of Adelaide, Barts and The London School of Medicine and Dentistry, University of Sheffield, University of Liverpool, Centro Rosarino de Estudios Perinatales, Chelsea and Westminster Hospital NHS Foundation Trust, Babcock University, Ailem Academic Counselling, KU Leuven, Universidad Nacional de Colombia, Northwell Health, Université de Montréal, University of Montreal Hospital Centre, Ondokuz Mayıs University, Prince Sultan Military Medical City, Postgraduate Institute of Medical Education and Research, Fetal Medicine Research Institute, University Hospital Limerick, Drexel University, University of Aberdeen, University of Groningen, University of Auckland, Haaglanden Medisch Centrum, Nottingham University Medical School, Utrecht University, King Edward Memorial Hospital for Women, Imperial College Healthcare NHS Trust, Jean-Verdier Hospital, Downland Practice, Universidade Estadual de Campinas (UNICAMP), Université Lyon, University of North Carolina School of Medicine, South Ural State Medical University, Stellenbosch University, Irish Neonatal Health Alliance, University of Rzeszow, Royal Brisbane and Women’s Hospital, Nottingham University Hospitals NHS Trust, University Hospitals of Leicester, North Bristol NHS Trust, University of Nottingham, Soroka University Medical Center Ben Gurion University of the Negev, St George’s University Hospitals NHS Foundation Trust, Hospitalsenhed Midt, University of Glasgow, Amsterdam Universitair Medische Centra, All India Institute of Medical Sciences Patna, Luton and Dunstable University Hospital, Khyber Medical University Institution of Medical Sciences, Midwife Mid Essex Hospitals NHS Trust, University of Oulu, University of Michigan, Bastyr University, Irish Nurses and Midwives Organisation, University of Toronto, Barts Health NHS Trust, University Hospitals Plymouth NHS Trust, Burnet Institute, Aga Khan University, Medical University of Graz, Homerton University Hospital NHS Foundation Trust, Mount Royal University, Université de Paris, Royal Surrey County Hospital, University Hospital Southampton NHS Foundation Trust, University of Washington School of Nursing, Evelina London Children's Hospital Neonatal Unit, University of Sydney, University of Leicester, Academic Hospital of Udine, NHS Borders, Weill Cornell Medical College, University of Dundee, University of Edinburgh, South Australian Health and Medical Research Institute, Monash University and Monash Health, United Lincolnshire Hospitals NHS Trust, University of Kwa Zulu-Natal, Beatrix Hospital, Keele University, Government Medical College, Institut Catala de la Salut. IdiapJgol, National Center for Child Health and Development, Basavatarakam Indo-American Cancer Hospital and Research Institute, Axon Anaesthesia Associates, Pennine Acute Hospitals NHS Trust, University of London, Norfolk and Norwich University Hospital, Jichi Medical University School of Medicine, Universidade Estadual Paulista (UNESP), National Institute of Public Health, University of Kyrenia, King Edward Memorial Hospital, Amsterdam University Centres, University of British Columbia, Chulalongkorn University, University of Brescia, University Of British Columbia, University of Montreal, Women's Clinic of Tartu University Hospital, Universidade Federal de São Paulo (UNIFESP), Université de Sherbrooke, University Hospital of Wales, University of Iowa, King's College London, Westmead Hospital, Princess Royal Maternity, Leipzig University, Centre Hospitalier Public du Cotentin, Lewisham and Greenwich NHS Trust, Juntendo University Faculty of Medicine, Western Sydney University, National Institute of Health Research, University of Washington, Baylor College of Medicine, Capelle aan den Ijssel, Sanatorio Anchorena, Oxford University Hospitals NHS Foundation Trust, University of Leeds, Institute of Medical Sciences, UPMC Magee Womens Hospital, Penn Medicine Princeton Health, University of North Carolina at Chapel Hill, and Obstetrics and Gynaecology
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Adult ,medicine.medical_specialty ,Consensus ,Delphi Technique ,Standardization ,Birth weight ,Psychological intervention ,Randomised controlled trials ,030204 cardiovascular system & hematology ,Outcome (game theory) ,03 medical and health sciences ,Hypertension in pregnancy ,Outcome measure ,0302 clinical medicine ,Pre-Eclampsia ,Pregnancy ,Consensus development study ,Internal Medicine ,medicine ,Humans ,Set (psychology) ,030219 obstetrics & reproductive medicine ,Eclampsia ,business.industry ,Pregnancy Outcome ,Obstetrics and Gynecology ,Core outcome set ,Reference Standards ,medicine.disease ,Pre-eclampsia ,Pregnancy Complications ,Core (game theory) ,Treatment Outcome ,Systematic review ,Family medicine ,1114 Paediatrics and Reproductive Medicine ,Female ,International Collaboration to Harmonise Outcomes for Pre-eclampsia (iHOPE) ,business - Abstract
Made available in DSpace on 2022-04-28T19:29:02Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-07-01 Medical Research Council Canada National Institute for Health Research Objectives: To develop consensus definitions for the core outcome set for pre-eclampsia. Study design: Potential definitions for individual core outcomes were identified across four formal definition development initiatives, nine national and international guidelines, 12 Cochrane systematic reviews, and 79 randomised trials. Eighty-six definitions were entered into the consensus development meeting. Ten healthcare professionals and three researchers, including six participants who had experience of conducting research in low- and middle-income countries, participated in the consensus development process. The final core outcome set was approved by an international steering group. Results: Consensus definitions were developed for all core outcomes. When considering stroke, pulmonary oedema, acute kidney injury, raised liver enzymes, low platelets, birth weight, and neonatal seizures, consensus definitions were developed specifically for low- and middle-income countries because of the limited availability of diagnostic interventions including computerised tomography, chest x-ray, laboratory tests, equipment, and electroencephalogram monitoring. Conclusions: Consensus on measurements for the pre-eclampsia core outcome set will help to ensure consistency across future randomised trials and systematic reviews. Such standardization should make research evidence more accessible and facilitate the translation of research into clinical practice. Video abstract can be available at: www.dropbox.com/s/ftrgvrfu0u9glqd/6.%20Standardising%20definitions%20in%20teh%20pre-eclampsia%20core%20outcome%20set%3A%20a%20consensus%20development%20study.mp4?dl=0. Nuffield Department of Primary Care Health Sciences University of Oxford Institute for Women’s Health University College London Department of Women and Children’s Health School of Life Course Sciences King’s College London Department of Obstetrics and Gynecology Amsterdam UMC Academic Medical Center Academic Neonatal Medicine Imperial College London Department of Renal Medicine St George Hospital and University of New South Wales Department of Obstetrics and Gynaecology Feinberg School of Medicine Northwestern University Health Services Research Unit Nuffield Department of Population Health University of Oxford Cedars-Sinai Medical Center London North West University Healthcare NHS Trust Women’s Health Care Research Group Department of Obstetrics and Gynaecology Monash University Department of Obstetrics and Gynaecology University of Adelaide Women’s Health Research Unit Barts and The London School of Medicine and Dentistry School of Health and Related Research University of Sheffield MRC North West Hub for Trials Methodology Research Department of Biostatistics University of Liverpool Centro Rosarino de Estudios Perinatales Chelsea and Westminster Hospital NHS Foundation Trust Babcock University Ailem Academic Counselling KU Leuven Universidad Nacional de Colombia Northwell Health University of Oxford Université de Montréal University of Montreal Hospital Centre Ondokuz Mayıs University Prince Sultan Military Medical City Postgraduate Institute of Medical Education and Research King's Fertility Fetal Medicine Research Institute University Hospital Limerick Drexel University University of Aberdeen University of Groningen University of Auckland Haaglanden Medisch Centrum Nottingham University Medical School Utrecht University King Edward Memorial Hospital for Women Imperial College Healthcare NHS Trust Jean-Verdier Hospital Downland Practice University of Campinas Université Lyon University of North Carolina School of Medicine South Ural State Medical University Stellenbosch University Irish Neonatal Health Alliance University of Rzeszow Royal Brisbane and Women’s Hospital Nottingham University Hospitals NHS Trust University Hospitals of Leicester North Bristol NHS Trust University of Nottingham Soroka University Medical Center Ben Gurion University of the Negev St George’s University Hospitals NHS Foundation Trust Hospitalsenhed Midt University of Glasgow Amsterdam Universitair Medische Centra All India Institute of Medical Sciences Patna Luton and Dunstable University Hospital Khyber Medical University Institution of Medical Sciences Midwife Mid Essex Hospitals NHS Trust University of Oulu University of Michigan Bastyr University Irish Nurses and Midwives Organisation University of Toronto Barts Health NHS Trust University Hospitals Plymouth NHS Trust Burnet Institute Aga Khan University Medical University of Graz Homerton University Hospital NHS Foundation Trust Mount Royal University Université de Paris Royal Surrey County Hospital University Hospital Southampton NHS Foundation Trust University of Washington School of Nursing Evelina London Children's Hospital Neonatal Unit University of Sydney University of Leicester Academic Hospital of Udine NHS Borders Weill Cornell Medical College University of Dundee University of Edinburgh South Australian Health and Medical Research Institute University of Sheffield Monash University and Monash Health United Lincolnshire Hospitals NHS Trust University of Kwa Zulu-Natal Beatrix Hospital Keele University Government Medical College Institut Catala de la Salut. IdiapJgol University College London National Center for Child Health and Development Basavatarakam Indo-American Cancer Hospital and Research Institute Axon Anaesthesia Associates Pennine Acute Hospitals NHS Trust St George's University of London Norfolk and Norwich University Hospital Jichi Medical University School of Medicine São Paulo State University National Institute of Public Health University of Kyrenia King Edward Memorial Hospital Amsterdam University Centres University of British Columbia Chulalongkorn University University of Brescia University Of British Columbia University of Montreal Women's Clinic of Tartu University Hospital Universidade Federal de São Paulo Université de Sherbrooke University Hospital of Wales University of Iowa King's College London Westmead Hospital Princess Royal Maternity Leipzig University Centre Hospitalier Public du Cotentin Lewisham and Greenwich NHS Trust Juntendo University Faculty of Medicine Western Sydney University National Institute of Health Research University of Washington Baylor College of Medicine Capelle aan den Ijssel Sanatorio Anchorena Oxford University Hospitals NHS Foundation Trust University of Leeds Institute of Medical Sciences UPMC Magee Womens Hospital Penn Medicine Princeton Health University of North Carolina at Chapel Hill São Paulo State University
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- 2020
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47. Who gets the ventilator? A multicentre survey of intensivists' opinions of triage during the first wave of the COVID-19 pandemic
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Jesper Fjølner, Øystein Ariandsen Haaland, Christian Jung, Dylan W. de Lange, Wojciech Szczeklik, Susannah Leaver, Bertrand Guidet, Sigal Sviri, Peter Vernon Van Heerden, Michael Beil, Christiane S. Hartog, Hans Flaatten, Aarhus University Hospital, University of Bergen (UiB), Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Utrecht University [Utrecht], Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), St George’s University Hospitals, Service de Réanimation Médicale [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hadassah Hebrew University Medical Center [Jerusalem], The Hebrew University of Jerusalem (HUJ), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Haukeland University Hospital, and Gestionnaire, Hal Sorbonne Université
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Adult ,Male ,Ventilators, Mechanical ,Critical Care ,ventilator allocation ,pandemic ,[SDV]Life Sciences [q-bio] ,COVID-19 ,General Medicine ,[SDV] Life Sciences [q-bio] ,Anesthesiology and Pain Medicine ,Surveys and Questionnaires ,Humans ,Female ,Triage ,triage ,Child ,Pandemics - Abstract
International audience; Background: The COVID-19 pandemic has caused a shortage of intensive care resources. Intensivists' opinion of triage and ventilator allocation during the COVID-19 pandemic is not well described.Methods: This was a survey concerning patient numbers, bed capacity, triage guidelines, and three virtual cases involving ventilator allocations. Physicians from 400 ICUs in a research network were invited to participate. Preferences were assessed with a five-point Likert scale. Additionally, age, gender, work experience, geography, and religion were recorded.Results: Of 437 responders 31% were female. The mean age was 44.4 (SD 11.1) with a mean ICU experience of 13.7 (SD 10.5) years. Respondents were mostly European (88%). Sixty-six percent had triage guidelines available. Younger patients and caretakers of children were favoured for ventilator allocation although this was less clear if this involved withdrawal of the ventilator from another patient. Decisions did not differ with ICU experience, gender, religion, or guideline availability. Consultation of colleagues or an ethical committee decreased with age and male gender.Conclusion: Intensivists appeared to prioritise younger patients for ventilator allocation. The tendency to consult colleagues about triage decreased with age and male gender. Many found such tasks to be not purely medical and that authorities should assume responsibility for triage during resource scarcity.
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- 2022
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48. Exploring the disparity between inflammation and disability in the 10-year outcomes of people with rheumatoid arthritis
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James M Gwinnutt, Sam Norton, Kimme L Hyrich, Mark Lunt, Bernard Combe, Nathalie Rincheval, Adeline Ruyssen-Witrand, Bruno Fautrel, Daniel F McWilliams, David A Walsh, Elena Nikiphorou, Patrick D W Kiely, Adam Young, Jacqueline R Chipping, Alex MacGregor, Suzanne M M Verstappen, Gestionnaire, HAL Sorbonne Université 5, University of Manchester [Manchester], King‘s College London, Manchester University NHS Foundation Trust (MFT), Université de Montpellier (UM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Rhumatologie [CHU Pitié Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pharmacoépidémiologie et évaluation des soins [iPLesp] (PEPITES), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Nottingham, UK (UON), St George’s University Hospitals, University of Hertfordshire [Hatfield] (UH), and University of East Anglia [Norwich] (UEA)
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Inflammation ,[SDV]Life Sciences [q-bio] ,Pain ,Antirheumatic Agents/therapeutic use ,Severity of Illness Index ,Biomedical Research Centre ,Arthritis, Rheumatoid ,[SDV] Life Sciences [q-bio] ,Disability Evaluation ,Rheumatology ,Arthritis, Rheumatoid/drug therapy ,Pain/drug therapy ,Antirheumatic Agents ,Inflammation/drug therapy ,Humans ,Fatigue/drug therapy ,Female ,Pharmacology (medical) ,Prospective Studies ,Arthritis Research Campaign National Pain Centre ,Medical Science ,Fatigue - Abstract
Objectives To identify groups of people with RA with different disability trajectories over 10 years, despite comparable levels of inflammation. Methods Data for this analysis came from three European prospective cohort studies of people with RA [Norfolk Arthritis Register (NOAR), Early RA Network (ERAN), Étude et Suivi des Polyarthrites Indifférenciées Récentes (ESPOIR)]. Participants were assessed regularly over 8 (ERAN) to 10 (NOAR/ESPOIR) years. Inclusion criteria were: recruited after 1 January 2000, Results This analysis included 2500 people with RA (NOAR: 1000, ESPOIR: 766, ERAN: 734). ESPOIR included more women and the participants were younger [mean (standard deviation) age: NOAR: 57.1 (14.6), ESPOIR: 47.6 (12.5), ERAN: 56.8 (13.8); women: NOAR: 63.9%, ESPOIR: 76.9%, ERAN: 69.1%). Within each cohort, two pairs of trajectories following the hypothesized pattern (comparable DAS28-2Cs but different HAQs) were identified. Higher pain, fatigue and depressive symptoms were associated with increased odds of being in the high HAQ trajectories. Conclusion Excess disability is persistent in RA. Controlling inflammation may not be sufficient to alleviate disability in all people with RA, and effective pain, fatigue and mood management may be needed in some groups to improve long-term function.
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- 2022
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49. Association between tracheostomy timing and outcomes for older critically ill COVID-19 patients:prospective observational study in European intensive care units
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Raphael Romano Bruno, Bertrand Guidet, Michael Beil, Peter Vernon van Heerden, Kamil Polok, Bernardo Bollen Pinto, Bernhard Wernly, Finn H. Andersen, Antonio Artigas, Michael Joannidis, Wojciech Szczeklik, Brian Marsh, Rui Moreno, Dorota Studzińska, Maurizio Cecconi, Joerg C. Schefold, Hans Flaatten, Sigal Sviri, Sandra Oeyen, Dylan W. de Lange, Jakub Fronczek, Jesper Fjølner, Christian Jung, Susannah Leaver, Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), The Hebrew University of Jerusalem (HUJ), University of Bergen (UiB), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Réanimation Médicale [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), University Medical Center [Utrecht], Aarhus University Hospital, St George’s University Hospitals, Hadassah Hebrew University Medical Center [Jerusalem], Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), CIBER de Epidemiología y Salud Pública (CIBERESP), Hôpitaux Universitaires de Genève (HUG), Bern University Hospital [Berne] (Inselspital), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Ghent University Hospital, Mater Misericordiae University Hospital (The Mater Hospital), Norwegian University of Science and Technology (NTNU), NOVA Medical School - Faculdade de Ciências Médicas (NMS), Universidade Nova de Lisboa = NOVA University Lisbon (NOVA), Humanitas University [Milan] (Hunimed), and Gestionnaire, Hal Sorbonne Université
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Male ,medicine.medical_specialty ,Time Factors ,Critical Care ,Coronavirus disease 2019 (COVID-19) ,intensive care units ,Critical Illness ,medicine.medical_treatment ,[SDV]Life Sciences [q-bio] ,tracheostomy ,mechanical ventilation ,law.invention ,law ,Intensive care ,medicine ,Humans ,Intubation ,Prospective Studies ,Clinical Investigation ,Correlation of Data ,610 Medicine & health ,Prospective cohort study ,outcome assessment ,Aged ,Mechanical ventilation ,business.industry ,Critically ill ,COVID-19 ,healthcare ,Length of Stay ,Respiration, Artificial ,Intensive care unit ,Europe ,Survival Rate ,Health Care ,[SDV] Life Sciences [q-bio] ,Treatment Outcome ,Anesthesiology and Pain Medicine ,Emergency medicine ,Female ,Observational study ,business - Abstract
BACKGROUND Tracheostomy is performed in patients expected to require prolonged mechanical ventilation, but to date optimal timing of tracheostomy has not been established. The evidence concerning tracheostomy in COVID-19 patients is particularly scarce. We aimed to describe the relationship between early tracheostomy (���10 days since intubation) and outcomes for patients with COVID-19. METHODS This was a prospective cohort study performed in 152 centres across 16 European countries from February to December 2020. We included patients aged ���70 yr with confirmed COVID-19 infection admitted to an intensive care unit, requiring invasive mechanical ventilation. Multivariable analyses were performed to evaluate the association between early tracheostomy and clinical outcomes including 3-month mortality, intensive care length of stay, and duration of mechanical ventilation. RESULTS The final analysis included 1740 patients with a mean age of 74 yr. Tracheostomy was performed in 461 (26.5%) patients. The tracheostomy rate varied across countries, from 8.3% to 52.9%. Early tracheostomy was performed in 135 (29.3%) patients. There was no difference in 3-month mortality between early and late tracheostomy in either our primary analysis (hazard ratio [HR]=0.96; 95% confidence interval [CI], 0.70-1.33) or a secondary landmark analysis (HR=0.78; 95% CI, 0.57-1.06). CONCLUSIONS There is a wide variation across Europe in the timing of tracheostomy for critically ill patients with COVID-19. However, we found no evidence that early tracheostomy is associated with any effect on survival amongst older critically ill patients with COVID-19. CLINICAL TRIAL REGISTRATION ClinicalTrials.gov NCT04321265.
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- 2022
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50. Diversion-p64 : results from an international, prospective, multicenter, single-arm post-market study to assess the safety and effectiveness of the p64 flow modulation device
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Joachim Klisch, Christian L. Roth, Frédéric Clarençon, Stefanita Dima, Xavier Barreau, Massimo Dall’Olio, Hans Henkes, Ana-Paula Narata, Peter Keston, Stanimir Sirakov, Luc Stockx, Alain Bonafe, Tony Goddard, Marcin Miś, Francis Turjman, Nunzio Paolo Nuzzi, Laurent Spelle, Marta Aguilar Pérez, Alexander Sirakov, Cezary Wałęsa, Ansgar Berlis, Sergey Yakovlev, Christian Loehr, Pedro Lylyk, Christina Wendl, Peter Schramm, A. V. Petrov, Carlos Bleise, Tine Willems, A. Clifton, Laurent Pierot, Gregory Gascou, Neuroradiologie [Hôpital Gui de Chauliac], Hôpital Gui de Chauliac [Montpellier], La Sagrada Familia Clinic/Clínica La Sagrada Familia [Buenos Aires, Argentina] (LSFC), St. Ivan Rilski University Hospital, Ziekenhuis Oost-Limburg (ZOL), Service de neuroradiologie [Lyon], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Almazov National Medical Research Centre (St. Petersburg), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Groupe hospitalier Pellegrin, Klinikum Vest GmbH, Klinikum Augsburg, Hôpital Maison Blanche, Centre Hospitalier Universitaire de Reims (CHU Reims), Wroclaw Medical University [Wrocław, Pologne], Leeds Teaching Hospitals NHS Trust, St George’s University Hospitals, Helios Klinikum [Erfurt], Service de Neuroradiologie [CHU de Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Faculté de Médecine Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Université Paris-Saclay, Service de Neuroradiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), NHS Lothian, Istituto Clinico Humanitas [Milan] (IRCCS Milan), Humanitas University [Milan] (Hunimed), University Hospital Regensburg, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
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Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,[SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Aneurysm ,[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,Occlusion ,medicine ,Medicine and Health Sciences ,Humans ,Prospective Studies ,ddc:610 ,Prospective cohort study ,Stroke ,Aged ,Retrospective Studies ,medicine.diagnostic_test ,business.industry ,Incidence (epidemiology) ,Mortality rate ,Endovascular Procedures ,Stent ,flow diverter ,Intracranial Aneurysm ,General Medicine ,Middle Aged ,medicine.disease ,Embolization, Therapeutic ,3. Good health ,Surgery ,Cerebral Angiography ,Treatment Outcome ,Angiography ,aneurysm ,Female ,Stents ,stent ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
BackgroundThe use of flow diversion to treat intracranial aneurysms has increased in recent years.ObjectiveTo assess the safety and angiographic efficacy of the p64 flow modulation device.MethodsDiversion-p64 is an international, prospective, multicenter, single-arm, study conducted at 26 centers. The p64 flow modulation device was used to treat anterior circulation aneurysms between December 2015 and January 2019. The primary safety endpoint was the incidence of major stroke or neurologic death at 3–6 months, with the primary efficacy endpoint being complete aneurysm occlusion (Raymond-Roy Occlusion Classification 1) on follow-up angiography.ResultsA total of 420 patients met the eligibility criteria and underwent treatment with the p64 flow modulation device (mean age 55±12.0 years, 86.2% female). Mean aneurysm dome width was 6.99±5.28 mm and neck width 4.47±2.28 mm. Mean number of devices implanted per patient was 1.06±0.47, with adjunctive coiling performed in 14.0% of the cases. At the second angiographic follow-up (mean 375±73 days), available for 343 patients (81.7%), complete aneurysm occlusion was seen in 287 (83.7%) patients. Safety data were available for 413 patients (98.3%) at the first follow-up (mean 145±43 days) with a composite morbidity/mortality rate of 2.42% (n=10).ConclusionsDiversion-p64 is the largest prospective study using the p64 flow modulation device. The results of this study demonstrate that the device has a high efficacy and carries a low rate of mortality and permanent morbidity.
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- 2022
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