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UMC Repository: Recent submissions

  • Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure 
    Lisowski, Pawel; Lickfett, Selene; Rybak-Wolf, Agnieszka; Menacho, Carmen; Le, Stephanie; Pentimalli, Tancredi Massimo; Notopoulou, Sofia; Dykstra, Werner; Oehler, Daniel; López-Calcerrada, Sandra; Mlody, Barbara; Otto, Maximilian; Wu, Haijia; Richter, Yasmin; Roth, Philipp; Anand, Ruchika; Kulka, Linda A.M.; Meierhofer, David; Glazar, Petar; Legnini, Ivano; Telugu, Narasimha Swamy; Hahn, Tobias; Neuendorf, Nancy; Miller, Duncan C.; Böddrich, Annett; Polzin, Amin; Mayatepek, Ertan; Diecke, Sebastian; Olzscha, Heidi; Kirstein, Janine; Ugalde, Cristina; Petrakis, Spyros; Cambridge, Sidney; Rajewsky, Nikolaus; Kühn, Ralf; Wanker, Erich E.; Priller, Josef; Metzger, Jakob J.; Prigione, Alessandro (Nature Publishing Group, 2024-08-22)
    Expansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence suggests that mutant HTT (mHTT) disrupts brain development. To ...
  • Web-based telemonitoring of visual function and self-reported postoperative outcomes in cataract care: international multicenter randomized controlled trial 
    Claessens, Janneau L.J.; Wanten, Joukje C.; Bauer, Noël J.C.; Nuijts, Rudy M.M.A.; Vrijman, Violette; Selek, Esen; Wouters, Rob J.; Reus, Nicolaas J.; Van Dorst, Fallon J.G.M.; Findl, Oliver; Ruiss, Manuel; Boden, Karl; Januschowski, Kai; Imhof, Saskia M.; Wisse, Robert P.L. (Elsevier, 2024-09-01)
    Purpose: To compare web-based, self-administered follow-up after cataract surgery to conventional face-to-face follow-up. Setting: Eye clinics in the Netherlands, Austria, and Germany. Design: Randomized controlled trial ...
  • Trastuzumab deruxtecan in HER2-positive metastatic colorectal cancer: less is more? 
    Roodhart, Jeanine M.L.; Koopman, Miriam (Elsevier Limited, 2024-09)
  • Biomarker guided antibiotic stewardship in community acquired pneumonia: A randomized controlled trial 
    Duijkers, Ruud; Prins, Hendrik J.; Kross, Martijn; Snijders, Dominic; van den Berg, Jan W.K.; Werkman, Gwendolyn M.; van der Veen, Nynke; Schoorl, Marianne; Bonten, Marc J.M.; van Werkhoven, Cornelis H.; Boersma, Wim G. (Public Library of Science, 2024-08-20)
    Background In community-acquired pneumonia (CAP), the role of biomarkers to shorten duration of antibiotic treatment has not been firmly established. We assessed the effectiveness of active feedback of treatment algorithms ...
  • Natural Course of Electrocardiographic Features in Arrhythmogenic Right Ventricular Cardiomyopathy and Their Relation to Ventricular Arrhythmic Events 
    Svensson, Anneli; Jensen, Henrik Kjaerulf; Boonstra, Machteld J.; Tétreault-Langlois, Marianne; Dahlberg, Pia; Bundgaard, Henning; Christensen, Alex Hørby; Rylance, Rebecca T.; Svendsen, Jesper H.; Cadrin-Tourigny, Julia; Te Riele, Anneline S.J.M.; Platonov, Pyotr G. (Wiley-Blackwell, 2024-08-20)
    BACKGROUND: Electrocardiographic abnormalities are common in arrhythmogenic right ventricular cardiomyopathy and are included in the 2010 Task Force Criteria. Their time course, however, remains uncertain. In this retrospective ...
  • Towards a Learning Health System for Symptom Management in Hospice Care 
    Massa, Marieke; Dermois, Marijke A.; Caffarel, Jennifer; Cramer-Van Der Welle, Christine M.; Boxman, Dianne K.E.; de Graaf, Everlien; Teunissen, Saskia S.C.M.; van der Werf, Jurrian (IOS Press, 2024-08-22)
    The reuse of real-world symptom monitoring data is essential in improving the quality of hospice care. A framework for achieving this is a Learning Health System, in which the development of a well-defined dataset is ...
  • The multiple mediating effects of vision-specific factors and depression on the association between visual impairment severity and fatigue: a path analysis study 
    Schakel, Wouter; Bode, Christina; van de Ven, Peter M.; van der Aa, Hilde P.A.; Hulshof, Carel T.J.; van Rens, Gerardus H.M.B.; van Nispen, Ruth M.A. (BioMed Central, 2024-08-21)
    Background: Severe fatigue is a common symptom for people with visual impairment, with a detrimental effect on emotional functioning, cognition, work capacity and activities of daily living. A previous study found that ...
  • Pangenome-spanning epistasis and coselection analysis via de Bruijn graphs 
    Kuronen, Juri; Horsfield, Samuel T.; Pöntinen, Anna K.; Mallawaarachchi, Sudaraka; Arredondo-Alonso, Sergio; Thorpe, Harry; Gladstone, Rebecca A.; Willems, Rob J.L.; Bentley, Stephen D.; Croucher, Nicholas J.; Pensar, Johan; Lees, John A.; Tonkin-Hill, Gerry; Corander, Jukka (Cold Spring Harbor Laboratory Press, 2024-07)
    Studies of bacterial adaptation and evolution are hampered by the difficulty of measuring traits such as virulence, drug resistance, and transmissibility in large populations. In contrast, it is now feasible to obtain ...
  • Reliability and agreement of manual and automated morphological radiographic hip measurements 
    Boel, F.; Riedstra, N. S.; Tang, J.; Hanff, D. F.; Ahedi, H.; Arbabi, V.; Arden, N. K.; Bierma-Zeinstra, S. M.A.; van Buuren, M. M.A.; Cicuttini, F. M.; Cootes, T. F.; Crossley, K.; Eygendaal, D.; Felson, D. T.; Gielis, W. P.; Heerey, J.; Jones, G.; Kluzek, S.; Lane, N. E.; Lindner, C.; Lynch, J.; van Meurs, J.; Nelson, A. E.; Mosler, A. B.; Nevitt, M. C.; Oei, E. H.; Runhaar, J.; Weinans, H.; Agricola, R. (Elsevier, 2024-09)
    Objective: To determine the reliability and agreement of manual and automated morphological measurements, and agreement in morphological diagnoses. Methods: Thirty pelvic radiographs were randomly selected from the World ...
  • Evaluating industry payments to editorial board members of otolaryngology journals 
    Harlianto, Zaneta N.; Harlianto, Netanja I. (Elsevier, 2024-11-01)
    Objective: To evaluate the extent of payments from medical device and pharmaceutical companies to editorial board members of leading otolaryngology journals. Methods: Editorial board members of the top 10 otolaryngology ...
  • Safety of treating acute pulmonary embolism at home: an individual patient data meta-analysis 
    Luijten, Dieuwke; Douillet, Delphine; Luijken, Kim; Tromeur, Cecile; Penaloza, Andrea; Hugli, Olivier; Aujesky, Drahomir; Barco, Stefano; Bledsoe, Joseph R.; Chang, Kyle E.; Couturaud, Francis; den Exter, Paul L.; Font, Carme; Huisman, Menno V.; Jimenez, David; Kabrhel, Christopher; Kline, Jeffrey A.; Konstantinides, Stavros; van Mens, Thijs; Otero, Remedios; Peacock, W. Frank; Sanchez, Olivier; Stubblefield, William B.; Valerio, Luca; Vinson, David R.; Wells, Philip; van Smeden, Maarten; Roy, Pierre Marie; Klok, Frederikus A. (Oxford University Press, 2024-08-21)
    Background and Aims Home treatment is considered safe in acute pulmonary embolism (PE) patients selected by a validated triage tool (e.g. simplified PE severity index score or Hestia rule), but there is uncertainty regarding ...
  • Pain Experience and Image Quality with Curved versus Standard Compression for Breast Cancer Screening Mammography: A Randomized Controlled Trial 
    van der Waal, Daniëlle; van Landsveld-Verhoeven, Cary; Tetteroo, Eric; van Engen, Ruben E.; Sechopoulos, Ioannis; Pijnappel, Ruud M.; Broeders, Mireille J.M. (Radiological Society of North America Inc., 2024-08-01)
    Background A curve-shaped compression paddle could reduce the pain experienced by some women at breast cancer screening. Purpose To compare curved and standard compression systems in terms of pain experience and image ...
  • Sub-zero non-freezing of vascularized composite allografts in a rodent partial hindlimb model 
    Filz von Reiterdank, I.; Tawa, P.; Berkane, Y.; de Clermont-Tonnerre, E.; Dinicu, A. T.; Pendexter, C.; Goutard, M.; Lellouch, A. G.; Mink van der Molen, A. B.; Coert, J. H.; Cetrulo, C. L.; Uygun, K. (Academic Press Inc., 2024-09)
    Ischemia is a major limiting factor in Vascularized Composite Allotransplantation (VCA) as irreversible muscular injury can occur after as early as 4–6 h of static cold storage (SCS). Organ preservation technologies have ...
  • Optimizing Morbidity in Unplanned Soft Tissue Sarcoma Excisions Should We Skip the Reconstructive Ladder? 
    Elmorsi, Rami; Camacho, Luis; Krijgh, David D.; Tilney, Gordon S.; Lyu, Heather; Traweek, Raymond S.; Witt, Russell G.; Roubaud, Margaret S.; Roland, Christina L.; Mericli, Alexander F. (Lippincott Williams & Wilkins, 2024-09-01)
    Introduction: Soft tissue sarcomas (STSs) are rare and diverse primary malignant tumors that comprise approximately 1% of all malignancies. Misdiagnoses and unplanned excisions of STSs are common due to the tumor's rarity, ...
  • Structural variation in pediatric cancer: characterizing tumor genomes to improve patient care 
    van Belzen, Ianthe A.E.M. (Utrecht University, 2024-10-17)
    Cancer is characterized by uncontrolled cell division and widespread disruption of biological processes due to changes in the DNA (mutations). Cancer usually occurs later in life when cells have acquired sufficient 'driver' ...
  • Robotic MR-guided high dose rate brachytherapy needle implantation in the prostate (ROBiNSon)—a proof-of-concept study 
    Rasing, Marnix J.A.; van Schelven, Leonard J.; van Lier, Astrid L.H.M.W.; Boskovic, Ernest; van Son, Marieke; Schokker, Rogier I.; van Vliet-Van den Ende, Katelijne M.; Kelder, Daniëlle D.; Verkerk, Jacqueline; van de Pol, Sandrine M.G.; Lagendijk, Jan J.W.; Peters, Max; van der Voort van Zyp, Jochem R.N.; Moerland, Marinus A. (IOP Publishing Ltd., 2024-09-07)
    Objective. A robotic needle implant device for MR-guided high-dose-rate (HDR) prostate brachytherapy was developed. This study aimed to assess the feasibility and spatial accuracy of HDR brachytherapy using the robotic ...
  • The European Registry for Patients with Mechanical Circulatory Support (EUROMACS): fourth Paediatric EUROMACS (Paedi-EUROMACS) report 
    Rohde, Sofie; van Puyvelde, Joeri; Veen, Kevin M.; Schweiger, Martin; Biermann, Daniel; Amodeo, Antonio; Martens, Thomas; Damman, Kevin; Gollmann-Tepeköylü, Can; Hulman, Michael; Iacovoni, Attilio; Krämer, Ulrike S.; Loforte, Antonio; Pace Napoleone, Carlo; Nemec, Petr; Netuka, Ivan; Özbaran, Mustafa; Polo, Luz; Pya, Yuriy; Ramjankhan, Faiz; Sandica, Eugen; Sliwka, Joanna; Stiller, Brigitte; Kadner, Alexander; Franceschini, Alessio; Thiruchelvam, Timothy; Zimpfer, Daniel; Berger, Felix; Davies, Ben; Dashkevich, Alexey; Stark, Christoffer; Meyns, Bart; de By, Theo M.M.H.; Miera, Oliver (Elsevier, 2024-08-02)
    OBJECTIVES: The use of ventricular assist devices (VADs) in children is increasing. However, absolute numbers in individual centres and countries remain small. Collaborative efforts such as the Paedi-European Registry for ...
  • Does "one Size Fits All"? Rethinking FIGO Depth of Invasion Measurements in Vulvar Cancer 
    Bleeker, Maaike C.G.; Bosse, Tjalling; Van De Vijver, Koen K.; Bart, Joost; Horlings, Hugo; Jonges, Trudy G.N.; Visser, Nicole C.M.; Kooreman, Loes F.S.; Bulten, Johan; Ewing-Graham, Patricia C. (Lippincott Williams & Wilkins, 2024-09-01)
    Depth of invasion (DOI) is an important diagnostic parameter in patients with vulvar carcinoma, where a cutoff value of 1 mm largely determines the tumor stage and the need for groin surgery. DOI measurement should be ...
  • Development of a text mining algorithm for identifying adverse drug reactions in electronic health records 
    Van De Burgt, Britt W.M.; Wasylewicz, Arthur T.M.; Dullemond, Bjorn; Jessurun, Naomi T.; Grouls, Rene J.E.; Bouwman, R. Arthur; Korsten, Erik H.M.; Egberts, Toine C.G. (Oxford University Press, 2024-10-01)
    Objective: Adverse drug reactions (ADRs) are a significant healthcare concern. They are often documented as free text in electronic health records (EHRs), making them challenging to use in clinical decision support systems ...
  • Management of persistent fatigue: No individual acts like a group 
    Vroegindeweij, Anouk (Utrecht University, 2024-10-15)
    Fatigue has been defined as "extreme tiredness resulting from physical or mental exertion or illness." When severe, it becomes persistent and unrelieved by rest, negatively impacting the physical, social, and academic ...