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UMC Repository: Recent submissions

  • The enigma of sclera-specific autoimmunity in scleritis 
    Vergouwen, Daphne P.C.; van Beek, Adriaan A.; de Hoog, Joeri; de Boer, Joke H.; Los, Leonoor I.; Gijs, Marlies; Erckens, Roel J.; Verdijk, Rob M.; Haasnoot, Geert W.; Roelen, Dave L.; Rothova, Aniki; Rönnelid, Johan; Ten Berge, Josianne C.; Schreurs, Marco W.J. (Academic Press Inc., 2024-04)
    Scleritis is a severe and painful ophthalmic disorder, in which a pathogenic role for collagen-directed autoimmunity was repeatedly suggested. We evaluated the presence of sclera-specific antibodies in a large cohort of ...
  • RSV neutralizing antibodies in dried blood 
    Terstappen, Jonne; Delemarre, Eveline M; Versnel, Anouk; White, Joleen T; Derrien-Colemyn, Alexandrine; Ruckwardt, Tracy J; Bont, Louis J; Mazur, Natalie I (Oxford University Press, 2024-07-15)
    Background. The key correlate of protection of respiratory syncytial virus (RSV) vaccines and monoclonal antibodies (mAbs) is virus neutralization, measured via sera obtained through venipuncture. Dried blood obtained with ...
  • IgG1 glycosylation highlights premature aging in Down syndrome 
    PRIDE study group (Wiley-Blackwell, 2024-07)
    Down syndrome (DS) is characterized by lowered immune competence and premature aging. We previously showed decreased antibody response following SARS-CoV-2 vaccination in adults with DS. IgG1 Fc glycosylation patterns are ...
  • High-Resolution Geospatial Mapping of Zero-Dose and Underimmunized Children Following Nigeria's 2021 Multiple Indicator Cluster Survey/National Immunization Coverage Survey 
    Jean Baptiste, Anne Eudes; Wagai, John; Hahné, Susan; Adeniran, Adeyemi; Koko, Richard Ipuragboma; de Vos, Stijn; Shibeshi, Messeret; Sanders, E A M; Masresha, Balcha; Hak, Eelko (Oxford University Press, 2024-07-15)
    BACKGROUND: “Zero-dose” children are those who are without any routine vaccination or are lacking the first dose of the diphtheria, tetanus, and pertussis–containing vaccine. Based on global estimates from the World Health ...
  • Commitments for Ethically Responsible Sourcing, Use, and Reuse of Patient Data in the Digital Age: Cocreation Process 
    Okun, Sally; Hanger, Morgan; Browne-James, Letitia; Montgomery, Tara; Rafaloff, Gary; van Delden, Johannes J.M. (Journal of medical Internet Research, 2023-05-05)
    Background: Personal information, including health-related data, may be used in ways we did not intend when it was originally shared. However, the organizations that collect these data do not always have the necessary ...
  • Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A 
    de Muijnck, Cansu; van Schooneveld, Mary J.; Plomp, Astrid S.; Rodenburg, Richard J.; van Genderen, Maria M.; Boon, Camiel J.F. (Elsevier, 2024-06)
    Purpose: To describe a case with Leber's hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A. Observations: A 20-year-old patient with a history of mild developmental ...
  • Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy 
    de Muijnck, Cansu; Brink, Jacoline B.ten; de Haan, Hugoline G.; Rodenburg, Richard J.; Wolf, Nicole I.; Bergen, Arthur A.; Boon, Camiel J.F.; van Genderen, Maria M. (Multidisciplinary Digital Publishing Institute (MDPI), 2024-05)
    Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a ...
  • Serum Biomarkers of Vascular Involvement in Childhood Uveitis 
    Kouwenberg, Carlyn V.; Kuiper, Jonas J.W.; de Boer, Joke H.; Ayuso, Viera Kalinina (Association for Research in Vision and Ophthalmology Inc., 2024-04)
    Purpose: Nonanterior uveitis frequently involves the retinal vasculature; however, no molecular markers associated with the retinal vascular disease are currently known. In this study, we aimed to identify serum biomarker ...
  • Contact lenses in paediatric aphakia in the Netherlands; A multicentre retrospective chart study 
    Elving, K. H.; Haasnoot, A. J.W.; Ghyczy, E. A.E.; Stramrood, S.; de Boer, J. H. (Elsevier, 2024-06)
    Purpose: The main aim of this study was to evaluate the type, parameters, loss and complications of contact lenses (CLs) in the treatment of paediatric aphakia over a 10-year period. Methods: This retrospective multicentre ...
  • Protecting Privacy While Optimizing the Use of (Health)Data: The Importance of Measures and Safeguards 
    Smit, Julie-Anne R; Mostert, Menno; van Delden, Johannes J M (Routledge, 2022-07)
  • Implementation of biomarkers in the management of Community-Acquired Pneumonia 
    Duijkers, Ruud (Utrecht University, 2024-09-12)
    Chapter 1: We developed a real-time PCR test to detect pneumococci. The test was accurate both in vitro and oropharyngeal patient samples. It showed good reliability and has a detection threshold of 1-10 DNA copies per ...
  • Progression patterns in diffuse gliomas 
    Flies, Christina (Utrecht University, 2024-08-26)
    Diffuse gliomas are the most common adult-onset primary brain tumours. After diagnosis with a diffuse glioma, the patient is treated with surgery, radiotherapy and chemotherapy. Despite this extensive treatment, in most ...
  • Day-case otologic surgery: Stapes surgery & cochlear implantation 
    Derks, Laura (Utrecht University, 2024-08-29)
    In this thesis the feasibility, safety, and costs of performing ear surgery in a day-case setting, compared to inpatient admission, was investigated. The focus was particularly on stapes surgery and cochlear implantation, ...
  • Tailoring treatment in early-stage breast cancer: The identification of prognostic and predictive biomarkers in HER2-negative and triple-negative breast cancer 
    de Boo, Leonora W. (Utrecht University, 2024-09-23)
    This thesis focuses on identifying prognostic and predictive biomarkers that may guide treatment decisions for patients with early-stage HER2-negative breast cancer (BC) or triple-negative BC (eTNBC). We studied the value ...
  • Biomarker-driven Immunotherapy in Patients with Advanced Solid Tumors: Providing Access and Refining Patient Selection 
    Geurts, Birgit (Utrecht University, 2024-09-10)
    Precision oncology has introduced a new era in the treatment of cancer and is characterized by gene-directed, tumor-agnostic approaches that are personalized for each patient based on biomarkers. This new era is reflected ...
  • An auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken 
    Janssens, Astrid; Drachmann, Danielle; Barnes-Cullen, Kristy; Carrigg, Austin; Christesen, Henrik Thybo; Futers, Becky; Lavery, Yvette Ollada; Palms, Tiffany; Petersen, Jacob Sten; Shah, Pratik; Thornton, Paul; Wolfsdorf, Joseph (BioMed Central Ltd., 2024-07-23)
    BACKGROUND: In rare diseases, limited access to services and rare disease experts may force families to act as medical advocates for their child; they can volunteer to support clinician-initiated research or initiate and ...
  • Ex Situ Left Ventricular Pressure-Volume Loop Analyses for Donor Hearts: Proof of Concept in an Ovine Experimental Model. 
    Ertugrul, I A; Puspitarani, R A D A; Wijntjes, B; Vervoorn, M T; Ballan, E M; van der Kaaij, N P; van Goor, H; Westenbrink, B D; van der Plaats, A; Nijhuis, F; van Suylen, V; Erasmus, M E (Wiley-Blackwell, 2024-07)
    Ex situ heart perfusion (ESHP) has emerged as an important strategy to preserve donation after brain death (DBD) and donation after circulatory death (DCD) donor hearts. Clinically, both DBD and DCD hearts are successfully ...
  • Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers. 
    Yang, Xin; Mooij, Thea M; Leslie, Goska; Ficorella, Lorenzo; Andrieu, Nadine; Kast, Karin; Singer, Christian F; Jakubowska, Anna; van Gils, Carla H; Tan, Yen Y; Engel, Christoph; Adank, Muriel A; van Asperen, Christi J; Ausems, Margreet G E M; Berthet, Pascaline; Collee, Margriet J; Cook, Jackie A; Eason, Jacqueline; Spaendonck-Zwarts, Karin Y van; Evans, D Gareth; Gómez García, Encarna B; Hanson, Helen; Izatt, Louise; Kemp, Zoe; Lalloo, Fiona; Lasset, Christine; Lesueur, Fabienne; Musgrave, Hannah; Nambot, Sophie; Noguès, Catherine; Oosterwijk, Jan C; Stoppa-Lyonnet, Dominique; Tischkowitz, Marc; Tripathi, Vishakha; Wevers, Marijke R; Zhao, Emily; van Leeuwen, Flora E; Schmidt, Marjanka K; Easton, Douglas F; Rookus, Matti A; Antoniou, Antonis C; EMBRACE Collaborators (BMJ Publishing Group, 2024-07-19)
    Background: No validation has been conducted for the BOADICEA multifactorial breast cancer risk prediction model specifically in BRCA1/2 pathogenic variant (PV) carriers to date. Here, we evaluated the performance of ...
  • Machine Learning Did Not Outperform Conventional Competing Risk Modeling to Predict Revision Arthroplasty 
    Machine Learning Consortium (Springer New York, 2024-08)
    BACKGROUND: Estimating the risk of revision after arthroplasty could inform patient and surgeon decision-making. However, there is a lack of well-performing prediction models assisting in this task, which may be due to ...
  • Multicentre study and systematic review: Allopurinol exposure during pregnancy 
    Crouwel, Femke; Simsek, Melek; de Boer, Marjon A; van Asseldonk, Dirk P; Bhalla, Abha; Weusthuis, Angelique L M; Gilissen, Lennard P L; Verburg, Robert J; Mares, Wout G N; Jharap, Bindia; Kuijvenhoven, Johan P; Oldenburg, Bas; Buiter, Hans J C; Julsgaard, Mette; de Boer, Nanne K (Wiley-Blackwell, 2024-08)
    BACKGROUND: Data about the safety of allopurinol in pregnant women are sparsely reported. AIMS: To investigate the risk of adverse pregnancy outcome and congenital abnormalities after in utero exposure to allopurinol in ...