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Results: 28672
The need for widely available genomic testing in rare eye diseases
Graeme C Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans PM Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group
May 17, 2021
BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively...
An ontological foundation for ocular phenotypes and rare eye diseases.
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N Robinson, Hélène Dollfus, ERN-EYE Ontology Study Group
Feb 15, 2019
BACKGROUND: The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of...
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
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....
Strengthening the integration of eye care into the health system
Stuart Keel, Jennifer R Evans, Sandra Block, Rupert Bourne, Margarita Calonge, Ching-Yu Cheng, David S Friedman, João M Furtado, Rohit C Khanna, Wanjiku Mathenge, Silvio Mariotti, Elenoa Matoto, Andreas Müller, M Mansur Rabiu, Tuwani Rasengane, Jialang Zhao, Richard Wormald, Alarcos Cieza
Aug 11, 2020
Objective: To describe the rational for, and the methods that will be employed to develop, the WHO package of eye care interventions (PECI). Methods and analysis: The development of the package will be conducted in four steps...
Strengthening the integration of eye care into the health system
Stuart Keel, Jennifer R Evans, Sandra Block, Rupert Bourne, Margarita Calonge, Ching-Yu Cheng, David S Friedman, João M Furtado, Rohit C Khanna, Wanjiku Mathenge, Silvio Mariotti, Elenoa Matoto, Andreas Müller, M Mansur Rabiu, Tuwani Rasengane, Jialang Zhao, Richard Wormald, Alarcos Cieza
Aug 21, 2020
OBJECTIVE: To describe the rational for, and the methods that will be employed to develop, the WHO package of eye care interventions (PECI). METHODS AND ANALYSIS: The development of the package will be conducted in four steps...
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
Boosting care and knowledge about hereditary cancer
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge, ERN GENTURIS
Feb 07, 2020
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March...
Cross border health care European Reference Network Genetic Hereditary cancer Rare Diseases Syndrome Clinical Competence Databases Factual Europe Genetic Predisposition to Disease Genetic Testing Humans Information Dissemination Information Services International Cooperation Medical Oncology Neoplastic Syndromes Hereditary Quality Improvement Rare Diseases Registries Remote Consultation Time-to-Treatment
Restoration of visual acuity with “ISOTINE” eye drops -an Ayurvedic formulation
Approximately 8 million to 2.3 million people worldwide have impaired vision due to uncorrected refractive error and cataract1. Hence the World Health Organization (WHO) has initiated Vision 2020 global program – “The right to...
Published by: IJHS Medical Association
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...
Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification.
Rodrigo M Young, Thomas A Hawkins, Florencia Cavodeassi, Heather L Stickney, Quenten Schwarz, Lisa M Lawrence, Claudia Wierzbicki, Bowie Yl Cheng, Jingyuan Luo, Elizabeth Mayela Ambrosio, Allison Klosner, Ian M Sealy, Jasmine Rowell, Chintan A Trivedi, Isaac H Bianco, Miguel L Allende, Elisabeth M Busch-Nentwich, Gaia Gestri, Stephen W Wilson
Apr 29, 2019
The vertebrate eye originates from the eye field, a domain of cells specified by a small number of transcription factors. In this study, we show that Tcf7l1a is one such transcription factor that acts cell-autonomously to...
development developmental biology Eye Genetics Tcf7l1 Zebrafish Animals Cell Proliferation Embryo Nonmammalian Eye Female Gene Expression Regulation Developmental Genetic Loci Kinetics Male Morphogenesis Mutation Neural Plate Neurogenesis Penetrance Phenotype Prosencephalon Transcription Factor 7-Like 1 Protein Up-Regulation Zebrafish Zebrafish Proteins Zygote
Glaucoma and intraocular pressure in EPIC-Norfolk Eye Study
Michelle PY Chan, David C Broadway, Anthony P Khawaja, Jennifer LY Yip, David F Garway-Heath, Jennifer M Burr, Robert Luben, Shabina Hayat, Nichola Dalzell, Kay-Tee Khaw, Paul J Foster
Jul 31, 2018
Objectives To report the distribution of intraocular pressure (IOP) by age and sex and the prevalence of glaucoma.Design Community based cross sectional observational study.Setting EPIC-Norfolk cohort in Norwich and the...
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...
Infant neural sensitivity to eye gaze depends on early experience of gaze communication.
Angélina Vernetti, Nataşa Ganea, Leslie Tucker, Tony Charman, Mark H Johnson, Atsushi Senju
Sep 05, 2018
A fundamental question in functional brain development is how the brain acquires specialised processing optimised for its individual environment. The current study is the first to demonstrate that distinct experience of eye gaze...
A-DisETrac Advanced Analytic Dashboard for Distributed Eye Tracking
Andrew Duchowski, Sampath Jayarathna, Yasith Jayawardana, Yasasi Abeysinghe, Bhanuka Mahanama, Gavindya Jayawardena, Mohan Sunkara, Vikas Ashok
Jan 01, 2024
Understanding how individuals focus and perform visual searches during collaborative tasks can help improve user engagement. Eye tracking measures provide informative cues for such understanding. This article presents...
Published by: IGI Global Scientific Publishing
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
Seeing eye to eye on family supportive supervisor behaviors
In a context characterized by harsh competition, time pressure and increasing turnover of employees, a key issue for managers and organizations is to help employees in their juggling between work and family. As such, family...
Seeing eye to eye on family supportive supervisor behaviors
In a context characterized by harsh competition, time pressure and increasing turnover of employees, a key issue for managers and organizations is to help employees in their juggling between work and family. As such, family...
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...
Why Eye Contact is So Hard
Stephen Wilkins
Jan 01, 0001
The ability to maintain eye contact while speaking is a difficult skill for many people to master. Because of the importance of nonverbal communication skills in everyday life, it is prudent to examine the reasons for this...
Published by: Ursinus College
Risk factors for previously undiagnosed primary open-angle glaucoma
Michelle PY Chan, Anthony P Khawaja, David C Broadway, Jennifer Yip, Robert Luben, Shabina Hayat, Tunde Peto, Kay-Tee Khaw, Paul J Foster
Jun 29, 2021
BACKGROUND AND AIM: Undiagnosed glaucoma is an invisible but important public health issue. At least half of glaucoma cases are estimated to be undiagnosed in western populations. The aim of this study is to examine risk factors...
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....
The effect of non-communicative eye movements on joint attention.
Nathan Caruana, Ayeh Alhasan, Kirilee Wagner, David M Kaplan, Alexandra Woolgar, Genevieve McArthur
Jul 16, 2020
Eye movements provide important signals for joint attention. However, those eye movements that indicate bids for joint attention often occur among non-communicative eye movements. This study investigated the influence of these...
Development of an Eye Response-Based Mental Workload Evaluation Method
This study proposed an eye responses-based mental workload (E-MWL) evaluation method in nuclear power plants (NPPs) when performing the task via a user interface control. The fuzzy theory was used to combine four eye response...
Published by: IGI Global Scientific Publishing
A study to assess the feasibility of undertaking a randomized controlled trial of adherence with eye drops in glaucoma patients.
Cliff Richardson, Lisa Brunton, Nicola Olleveant, David B Henson, Mark Pilling, Jane Mottershead, Cecilia H Fenerty, Anne Fiona Spencer, Heather Waterman
May 31, 2018
BACKGROUND: Adherence with therapy could influence the progression of glaucoma and ultimately affect the onset of visual impairment in some individuals. This feasibility study evaluated the measures to be used for a future...
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