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UMC Repository: Recent submissions

  • Variations in the Appearance and Interpretation of Interpersonal Eye Contact in Social Categorizations and Psychiatric Populations Worldwide: A Scoping Review with a Critical Appraisal of the Literature 
    Boer, Jos; Boonstra, Nynke; Kronenberg, Linda; Stekelenburg, Ruben; Sizoo, Bram (Multidisciplinary Digital Publishing Institute (MDPI), 2024-08)
    Background: Eye contact is one of the most fundamental forms of interhuman communication. However, to date, there has been no comprehensive research comparing how eye contact is made and interpreted in all possible populations ...
  • A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants 
    Borroto, Maria Carla; Michaud, Coralie; Hudon, Chloé; Agrawal, Pankaj B.; Agre, Katherine; Applegate, Carolyn D.; Beggs, Alan H.; Bjornsson, Hans T.; Callewaert, Bert; Chen, Mei Jan; Curry, Cynthia; Devinsky, Orrin; Dudding-Byth, Tracy; Fagan, Kelly; Finnila, Candice R.; Gavrilova, Ralitza; Genetti, Casie A.; Hiatt, Susan M.; Hildebrandt, Friedhelm; Wojcik, Monica H.; Kleefstra, Tjitske; Kolvenbach, Caroline M.; Korf, Bruce R.; Kruszka, Paul; Li, Hong; Litwin, Jessica; Marcadier, Julien; Platzer, Konrad; Blackburn, Patrick R.; Reijnders, Margot R.F.; Reutter, Heiko; Schanze, Ina; Shieh, Joseph T.; Stevens, Cathy A.; Valivullah, Zaheer; van den Boogaard, Marie José; Klee, Eric W.; Campeau, Philippe M. (Multidisciplinary Digital Publishing Institute (MDPI), 2024-08)
    Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, ...
  • Outcome One Year after Acetabular Rim Extension Using a Customized Titanium Implant for Treating Hip Dysplasia in Dogs 
    Kwananocha, Irin; Magré, Joëll; Kamali, Amir; Verseijden, Femke; Willemsen, Koen; Ji, Yuntao; van der Wal, Bart C.H.; Sakkers, Ralph J.B.; Tryfonidou, Marianna A.; Meij, Björn P. (Multidisciplinary Digital Publishing Institute (MDPI), 2024-08)
    The acetabular rim extension (ACE-X) implant is a custom-made three-dimensionally printed titanium device designed for the treatment of canine hip dysplasia. In this study, 34 dogs (61 hips) underwent ACE-X implantation, ...
  • Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium 
    Heutinck, Pam A.T.; van den Born, L. Ingeborgh; Vermeer, Maikel; Iglesias Gonzales, Adriana I.; Hoyng, Carel B.; Pott, Jan Willem R.; Kroes, Hester Y.; van Schooneveld, Mary J.; Boon, Camiel J.F.; van Genderen, Maria M.; Plomp, Astrid S.; de Jong-Hesse, Yvonne; van Egmond-Ebbeling, Michelle B.; Hoefsloot, Lies H.; A Bergen, Arthur; Klaver, Caroline C.W.; Meester-Smoor, Magda A.; Thiadens, Alberta A.H.J.; Verhoeven, Virginie J.M. (2024-08-01)
    Purpose: Gene-based therapies for inherited retinal dystrophies (IRDs) are upcoming. Treatment before substantial vision loss will optimize outcomes. It is crucial to identify common phenotypes and causative genes in ...
  • The role of myocardial blood volume in the pathophysiology of angina with non-obstructed coronary arteries: The MICORDIS study 
    Vink, Caitlin E.M.; de Jong, Elize A.M.; Woudstra, Janneke; Molenaar, Mitchel; Kamp, Otto; Götte, Marco J.W.; van Raalte, Daniel H.; Serné, Erik; van de Hoef, Tim P.; Chamuleau, Steven A.J.; Eringa, Etto C.; Appelman, Yolande (Elsevier Ireland Ltd, 2024-11-15)
    Background: Angina with Non-Obstructed Coronary Arteries (ANOCA) involves abnormal vasomotor responses. While reduced coronary flow is an established contributor to myocardial hypoxia, myocardial blood volume (MBV) ...
  • Mixed reality as 3D medical imaging to improve neurosurgical care 
    Fick, Tim (Utrecht University, 2024-10-09)
    Mixed reality (MR) is a visualization technique where virtual 3D images are projected into the real world using MR head-mounted displays (MR-HMDs). These images are anchored in space and can be used as if they were physical ...
  • CRB1-associated Inherited Retinal Degenerations: Molecular signatures of inflammation 
    Moekotte, Lude (Utrecht University, 2024-09-26)
    The Crumbs homolog 1 (CRB1) gene is crucial for retinal photoreceptor integrity. Pathogenic variants in CRB1 cause inherited retinal dystrophies (CRB1-IRDs), leading to photoreceptor cell death and early visual impairment, ...
  • Antithrombotic therapy in patients with suspected ST-segment elevation myocardial infarction 
    Vogel, Rosanne Francina (Utrecht University, 2024-10-01)
    The mainstay in the treatment of ST-segment elevation myocardial infarction (STEMI) is the achievement of early infarct-related vessel patency to save myocardium at risk, which is mostly done by timely execution of ...
  • Translational Neuroimaging of Cerebral Perfusion after Acute Ischemic Stroke 
    Franx, Albert Antonius (Utrecht University, 2024-10-01)
    An ischemic stroke occurs due to a blockage in the blood supply to the brain, often caused by a blood clot. This disruption leads to permanent brain damage and can result in a lasting disability or death. Medical imaging ...
  • The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers 
    Bancroft, Elizabeth K.; Page, Elizabeth C.; Brook, Mark N.; Pope, Jennifer; Thomas, Sarah; Myhill, Kathryn; Helfand, Brian T.; Talaty, Pooja; Ong, Kai Ren; Douglas, Emma; Cook, Jackie; Rosario, Derek J.; Salinas, Monica; Buys, Saundra S.; Anson, Jo; Davidson, Rosemarie; Longmuir, Mark; Side, Lucy; Eccles, Diana M.; Tischkowitz, Marc; Taylor, Amy; Cruellas, Mara; Ballestero, Eduard Perez; Cleaver, Ruth; Varughese, Mohini; Barwell, Julian; LeButt, Mandy; Greenhalgh, Lynn; Hart, Rachel; Azzabi, Ashraf; Jobson, Irene; Cogley, Lynn; Evans, D. Gareth; Rothwell, Jeanette; Taylor, Natalie; Hogben, Matthew; Saya, Sibel; Ausems, Margreet G.E.M.; Van der Luijt, Rob B.; Lock, M. T.W.T.; IMPACT Study Steering Committee; IMPACT Collaborators (Wiley-Blackwell, 2024-09)
    Objectives: To report the long-term outcomes from a longitudinal psychosocial study that forms part of the ‘Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted Screening in men at higher genetic ...
  • Targeted perturbation of signaling-driven condensates 
    Gui, Tianshu; Fleming, Cassio; Manzato, Caterina; Bourgeois, Benjamin; Sirati, Nafiseh; Heuer, Jasper; Papadionysiou, Ioanna; Montfort, Daniel I.van; Gijzen, Merel van; Smits, Lydia M.M.; Burgering, Boudewijn M.T.; Madl, Tobias; Schuijers, Jurian (Cell Press, 2023-11-16)
    Biomolecular condensates have emerged as a major organizational principle in the cell. However, the formation, maintenance, and dissolution of condensates are still poorly understood. Transcriptional machinery partitions ...
  • Reasons for non-feasibility of therapeutic drug monitoring of oral targeted therapies in oncology - an analysis of the closed cohorts of a multicentre prospective study 
    van der Kleij, Maud B A; Guchelaar, Niels A D; Meertens, Marinda; Westerdijk, Kim; Giraud, Eline L; Bleckman, Roos F; Groenland, Stefanie L; van Eerden, Ruben A G; Imholz, Alex L T; Vulink, Annelie J E; Otten, Hans-Martin; Fiebrich-Westra, Helle-Brit; Lubberman, Floor J E; Desar, Ingrid M E; Moes, Dirk-Jan A R; Touw, Daan J; Koolen, Stijn L W; Gelderblom, Hans; Reyners, An K L; van Erp, Nielka P; Mathijssen, Ron H J; Huitema, Alwin D R; Steeghs, Neeltje; Dutch Pharmacology Oncology Group (DPOG) (Springer Nature, 2024-09)
    BACKGROUND: Therapeutic drug monitoring (TDM) - performing dose adjustments based on measured drug levels and established pharmacokinetic (PK) targets - could optimise treatment with drugs that show large interpatient ...
  • How to improve drug evaluation in older patients: The perspective of the European Geriatric Medicine Society (EuGMS) 
    Cherubini, Antonio; Denkinger, Michael; Knol, Wilma; Gudmundsson, Adalsteinn (Wiley-Blackwell, 2024-09)
  • Clinical algorithms for the monitoring and management of spontaneous, uncomplicated labour and childbirth 
    Pasquale, Julia; Gialdini, Celina; Chamillard, Mónica; Diaz, Virginia; Rijken, Marcus J.; Browne, Joyce L.; Seto, Mimi Tin Yan; Cheung, Ka Wang; Bonet, Mercedes; WHO Intrapartum Care Algorithms Working Group (Wiley-Blackwell, 2024-08)
    Aim: To develop evidence-based clinical algorithms for the assessment and management of spontaneous, uncomplicated labour and vaginal birth. Population: Pregnant women at any stage of labour, with singleton, term pregnancies ...
  • Adherence to a planetary health diet, genetic susceptibility, and incident cardiovascular disease: a prospective cohort study from the UK Biobank 
    Ye, Yi Xiang; Chen, Jun Xiang; Li, Yue; Lai, Yu Wei; Lu, Qi; Xia, Peng Fei; Franco, Oscar H.; Liu, Gang; Pan, An (Elsevier, 2024-09)
    Background: The influence of adherence to a planetary health diet (PHD) proposed by the EAT-Lancet Commission on cardiovascular disease (CVD) is inconclusive. Besides, whether genetic susceptibility to CVD can modify the ...
  • Optimizing pseudo-spiral sampling for abdominal DCE MRI using a digital anthropomorphic phantom 
    Wassenaar, Nienke P.M.; Gurney-Champion, Oliver J.; van Schelt, Anne Sophie; Bruijnen, Tom; van Laarhoven, Hanneke W.M.; Stoker, Jaap; Nederveen, Aart J.; Runge, Jurgen H.; Schrauben, Eric M. (John Wiley & Sons Inc., 2024-11)
    Purpose: For reliable DCE MRI parameter estimation, k-space undersampling is essential to meet resolution, coverage, and signal-to-noise requirements. Pseudo-spiral (PS) sampling achieves this by sampling k-space on a ...
  • Clinical and humoral response after SARS-CoV-2 breakthrough infection in patients receiving immunosuppressant therapy 
    van der Pol, W. Ludo; Goedee, H. Stephan; T2B! immunity against SARS-CoV-2 study group (Mosby Inc., 2024-09)
    Background: Despite impaired humoral response in patients treated with immunosuppressants (ISPs), recent studies found similar severity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) breakthrough infection ...
  • The use of a real-time computer-aided detection system for visible lesions in the Barrett's esophagus during live endoscopic procedures: a pilot study (with video) 
    Fockens, Kiki N.; Jukema, Jelmer B.; Jong, Martijn; Pouw, Roos E.; Duits, Lucas C.; de Groof, Albert J.; Bergman, Jacques J.; Boers, Tim G.; van der Putten, Joost A.; Kusters, Carolus H.J.; der Sommen, Fons van; de With, Peter H.; Alkhalaf, Alaa; Herrero, Lorenza Alvarez; Baldaque-Silva, Francisco; Barret, Maximilien; Bergman, Jacques J.; Weusten, Bas L.; BONS-AI consortium (Mosby Inc., 2024-09)
    Background and aims: This pilot study evaluated the performance of a recently developed computer-aided detection (CADe) system for Barrett's neoplasia during live endoscopic procedures. Methods: Fifteen patients with a ...
  • Explainable deep-learning-based ischemia detection using hybrid O-15 H2O perfusion positron emission tomography and computed tomography imaging with clinical data 
    Teuho, Jarmo; Schultz, Jussi; Klén, Riku; Juarez-Orozco, Luis Eduardo; Knuuti, Juhani; Saraste, Antti; Ono, Naoaki; Kanaya, Shigehiko (Springer New York, 2024-08)
    Background: We developed an explainable deep-learning (DL)-based classifier to identify flow-limiting coronary artery disease (CAD) by O-15 H2O perfusion positron emission tomography computed tomography (PET/CT) and coronary ...
  • Efficacy of a nurse-led sexual rehabilitation intervention for women with gynaecological cancers receiving radiotherapy: results of a randomised trial 
    Suvaal, Isabelle; Hummel, Susanna B.; Mens, Jan Willem M.; Tuijnman-Raasveld, Charlotte C.; Tsonaka, Roula; Velema, Laura A.; Westerveld, Henrike; Cnossen, Jeltsje S.; Snyers, An; Jürgenliemk-Schulz, Ina M.; Lutgens, Ludy C.H.W.; Beukema, Jannet C.; Haverkort, Marie A.D.; Nowee, Marlies E.; Nout, Remi A.; de Kroon, Cor D.; van den Hout, Wilbert B.; Creutzberg, Carien L.; van Doorn, Helena C.; ter Kuile, Moniek M. (Springer Nature, 2024-09)
    Background: The multicentre randomised SPARC trial evaluated the efficacy of a nurse-led sexual rehabilitation intervention on sexual functioning, distress, dilator use, and vaginal symptoms after radiotherapy for ...