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UMC Repository: Recent submissions

  • Genome-wide methylation analysis in patients with proximal hypospadias–a pilot study and review of the literature 
    van Bever, Yolande; Boers, Ruben G.; Brüggenwirth, Hennie T.; van IJcken, Wilfred Fj; Magielsen, Frank J.; de Klein, Annelies; Boers, Joachim B.; Looijenga, Leendert Hj; Brosens, Erwin; Gribnau, Joost; Hannema, Sabine E. (Landes Bioscience, 2024-09)
    In patients with proximal hypospadias, often no genetic cause is identified despite extensive genetic testing. Many genes involved in sex development encode transcription factors with strict timing and dosing of the gene ...
  • Association of body shape phenotypes and body fat distribution indexes with inflammatory biomarkers in the European Prospective Investigation into Cancer and Nutrition (EPIC) and UK Biobank 
    González-Gil, Esther M.; Peruchet-Noray, Laia; Sedlmeier, Anja M.; Christakoudi, Sofia; Biessy, Carine; Navionis, Anne Sophie; Mahamat-Saleh, Yahya; Jaafar, Rola F.; Baurecht, Hansjörg; Guevara, Marcela; Etxezarreta, Pilar Amiano; Verschuren, W. M.Monique; Boer, Jolanda M.A.; Olsen, Anja; Tjønneland, Anne; Simeon, Vittorio; Castro-Espin, Carlota; Aune, Dagfinn; Heath, Alicia K.; Gunter, Marc; Colorado-Yohar, Sandra M.; Zilhão, Nuno R.; Dahm, Christina C.; Llanaj, Erand; Schulze, Matthias B.; Petrova, Dafina; Sieri, Sabina; Ricceri, Fulvio; Masala, Giovanna; Key, Tim; Viallon, Vivian; Rinaldi, Sabina; Freisling, Heinz; Dossus, Laure (BioMed Central Ltd., 2024-08-15)
    Background: The allometric body shape index (ABSI) and hip index (HI), as well as multi-trait body shape phenotypes, have not yet been compared in their associations with inflammatory markers. The aim of this study was to ...
  • Biological Sample Collection to Advance Research and Treatment: A Fight Osteosarcoma Through European Research and Euro Ewing Consortium Statement 
    Green, Darrell; van Ewijk, Roelof; Tirtei, Elisa; Andreou, Dimosthenis; Baecklund, Fredrik; Baumhoer, Daniel; Bielack, Stefan S.; Botchu, Rajesh; Boye, Kjetil; Brennan, Bernadette; Capra, Michael; Cottone, Lucia; Dirksen, Uta; Fagioli, Franca; Fernandez, Natalia; Flanagan, Adrienne M.; Gambarotti, Marco; Gaspar, Nathalie; Gelderblom, Hans; Gerrand, Craig; Gomez-Mascard, Anne; Hardes, Jendrik; Hecker-Nolting, Stefanie; Kabickova, Edita; Kager, Leo; Kanerva, Jukka; Kester, Lennart A.; Kuijjer, Marieke L.; Laurence, Valérie; Lervat, Cyril; Marchais, Antonin; Marec-Berard, Perrine; Mendes, Cristina; Merks, Johannes H.M.; Ory, Benjamin; Palmerini, Emanuela; Pantziarka, Pan; Papakonstantinou, Evgenia; Piperno-Neumann, Sophie; Raciborska, Anna; Roundhill, Elizabeth A.; Rutkauskaite, Vilma; Safwat, Akmal; Scotlandi, Katia; Staals, Eric L.; Strauss, Sandra J.; Surdez, Didier; Sys, Gwen M.L.; Tabone, Marie Dominique; Toulmonde, Maud; Valverde, Claudia; van de Sande, Michiel A.J.; Wörtler, Klaus; Campbell-Hewson, Quentin; McCabe, Martin G.; Nathrath, Michaela (American Association for Cancer Research Inc., 2024-08-15)
    Osteosarcoma and Ewing sarcoma are bone tumors mostly diagnosed in children, adolescents, and young adults. Despite multimodal therapy, morbidity is high and survival rates remain low, especially in the metastatic disease ...
  • Use of virtual reality in preoperative education of cardiac surgery patients – A feasibility study 
    van Rijn, Michelle M.; de Heer, Linda M.; Nieuwenhuis-Wendt, Jenny; van der Kaaij, Niels P.; Moolenaar, Eveline G.E.; van der Ham, Daan Halle; van der Plank, Lars; Westland, Heleen; Weldam, Saskia W.M. (Elsevier Ireland Ltd, 2024-12)
    Objective: A Virtual Patient Tour (VPT) was developed to inform cardiac surgery patients about their hospitalization from the admission to their postoperative stay on the ward. The objective of our study was to assess the ...
  • In response to Chuong et al. 
    Grimbergen, Guus; Intven, Martijn P.W.; Meijer, Gert J. (Elsevier Ireland Ltd, 2024-09)
  • Association of fibrotic markers with diastolic function after STEMI 
    Al Ali, Lawien; Meijers, Wouter C.; Beldhuis, Iris E.; Groot, Hilde E.; Lipsic, Erik; van Veldhuisen, Dirk J.; Voors, Adriaan A.; van der Horst, Iwan C.C.; de Boer, Rudolf A.; van der Harst, Pim (Nature Publishing Group, 2024-08-18)
    Galectin-3 and Suppression of tumorigenicity-2 (ST2) are known markers of cardiac fibrosis. We investigated the prognostic value of fibrotic markers for the development of diastolic dysfunction and long-term outcome in ...
  • Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults 
    Das, Anirban; MacFarland, Suzanne P.; Meade, Julia; Hansford, Jordan R.; Schneider, Kami W.; Kuiper, Roland P.; Jongmans, Marjolijn C.J.; Lesmana, Harry; Schultz, Kris Ann P.; Nichols, Kim E.; Durno, Carol; Zelley, Kristin; Porter, Christopher C.; States, Lisa J.; Ben-Shachar, Shay; Savage, Sharon A.; Kalish, Jennifer M.; Walsh, Michael F.; Scott, Hamish S.; Plon, Sharon E.; Tabori, Uri (American Association for Cancer Research Inc., 2024-08-15)
    Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the PMS2, MSH6, MSH2, or MLH1 genes, and/or in the ...
  • Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD 
    Knikman, Jonathan E.; Zhai, Qinglian; Lunenburg, Carin A.T.C.; Henricks, Linda M.; Böhringer, Stefan; van der Lee, Maaike; de Man, Femke M.; Offer, Steven M.; Shrestha, Shikshya; Creemers, Geert Jan; Baars, Arnold; Dezentjé, Vincent O.; Imholz, Alexander L.T.; Jeurissen, Frank J.F.; Portielje, Johanna E.A.; Jansen, Rob L.H.; Hamberg, Paul; Droogendijk, Helga J.; Koopman, Miriam; Nieboer, Peter; van de Poel, Marlène H.W.; Mandigers, Caroline M.P.W.; van Schaik, Ron H.N.; Gelderblom, Hans; Mathijssen, Ron H.J.; Schellens, Jan H.M.; Cats, Annemieke; Guchelaar, Henk Jan; Swen, Jesse J. (BioMed Central, 2024-08-15)
    Background: The Alpe-DPD study (NCT02324452) demonstrated that prospective genotyping and dose-individualization using four alleles in DPYD (DPYD*2A/rs3918290, c.1236G > A/rs75017182, c.2846A > T/rs67376798 and c.1679 T > ...
  • Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe 
    Pajouheshnia, Romin; Gini, Rosa; Gutierrez, Lia; Swertz, Morris A; Hyde, Eleanor; Sturkenboom, Miriam; Arana, Alejandro; Franzoni, Carla; Ehrenstein, Vera; Roberto, Giuseppe; Gil, Miguel; Maciá, Miguel Angel; Schäfer, Wiebke; Haug, Ulrike; Thurin, Nicolas H; Lassalle, Régis; Droz-Perroteau, Cécile; Zaccagnino, Silvia; Busto, Maria Paula; Middelkoop, Bas; Gembert, Karin; Sanchez-Saez, Francisco; Rodriguez-Bernal, Clara; Sanfélix-Gimeno, Gabriel; Hurtado, Isabel; Acosta, Manuel Barreiro de; Poblador-Plou, Beatriz; Carmona-Pírez, Jonás; Gimeno-Miguel, Antonio; Prados-Torres, Alexandra; Schultze, Anna; Jansen, Ella; Herings, Ron; Kuiper, Josine; Locatelli, Igor; Jazbar, Janja; Žerovnik, Špela; Kos, Mitja; Smit, Steven; Lind, Sirje; Metspalu, Andres; Simou, Stefania; Hedenmalm, Karin; Cochino, Ana; Alcini, Paolo; Kurz, Xavier; Perez-Gutthann, Susana (John Wiley & Sons Inc., 2024-08)
    Purpose: Metadata for data dIscoverability aNd study rEplicability in obseRVAtional studies (MINERVA), a European Medicines Agency–funded project (EUPAS39322), defined a set of metadata to describe real-world data sources ...
  • Reproductive tract complication risks following Chlamydia trachomatis infections: a long-term prospective cohort study from 2008 to 2022 
    Alexiou, Zoïe W.; Hoenderboom, Bernice M.; Hoebe, Christian J.P.A.; Dukers-Muijrers, Nicole H.T.M.; Götz, Hannelore M.; van der Sande, Marianne A.B.; de Vries, Henry J.C.; den Hartog, Janneke E.; Morré, Servaas A.; van Benthem, Birgit H.B. (Elsevier, 2024-10)
    Background: The clinical and public health relevance of widespread testing for asymptomatic Chlamydia trachomatis (chlamydia) infections is under debate. To address uncertainties in screening programs, we estimate reproductive ...
  • A cardiac-rehab behaviour intervention to reduce sedentary time in coronary artery disease patients: the SIT LESS randomized controlled trial 
    Kroesen, Sophie H.; van Bakel, Bram M.A.; de Bruin, Marijn; Günal, Arzu; Scheepmaker, Arko; Aengevaeren, Wim R.M.; Willems, Frank F.; Wondergem, Roderick; Pisters, Martijn F.; Ortega, Francisco B.; Hopman, Maria T.E.; Thijssen, Dick H.J.; Bakker, Esmée A.; Eijsvogels, Thijs M.H. (BioMed Central, 2024-08-19)
    Background: High sedentary times (ST) is highly prevalent in patients with coronary artery disease (CAD), highlighting the need for behavioural change interventions that effectively reduce ST. We examined the immediate and ...
  • Tumor immune microenvironmental characteristics in Human Epidermal Growth Factor-2 (HER2) positive esophageal adenocarcinoma: A comparative analysis and biomarker study 
    Stroes, Charlotte I; Meijer, Sybren L; Creemers, Geert-Jan; Hooijer, Gerrit K J; Mohammad, Nadia Haj; Los, Maartje; Slingerland, Marije; Hospers, Geke A P; Cats, Annemieke; Beerepoot, Laurens V; Bijlsma, Maarten F; van Laarhoven, Hanneke W M (Neoplasia Press, 2024-11)
    Background: HER2 targeting in esophageal adenocarcinoma (EAC) has shown potential, but often fails to show durable response. Given the contributions of the tumor immune microenvironment (TIME) to therapeutic responses, we ...
  • Informed consent for national registration of COVID-19 vaccination caused information bias of vaccine effectiveness estimates mostly in older adults: a bias correction study 
    van Werkhoven, Cornelis H.; de Gier, Brechje; McDonald, Scott A.; de Melker, Hester E.; Hahné, Susan J.M.; van den Hof, Susan; Knol, Mirjam J. (Elsevier, 2024-10)
    Objectives: Registration in the Dutch national COVID-19 vaccination register requires consent from the vaccinee. This causes misclassification of nonconsenting vaccinated persons as being unvaccinated. We quantified and ...
  • Global inequities in adverse pregnancy outcomes: what can we do? 
    Roberts, James M.; Abimbola, Seye; Bale, Tracy L.; Barros, Aluisio; Bhutta, Zulfiqar A.; Browne, Joyce L.; Celi, Ann C.; Dube, Polite; Graves, Cornelia R.; Hollestelle, Marieke J.; Hopkins, Scarlett; Khashan, Ali; Koi-Larbi, Koiwah; Lackritz, Eve; Myatt, Leslie; Redman, Christopher W.G.; Tunçalp, Özge; Vermund, Sten H.; Gravett, Michael G. (Elsevier, 2024-08)
    The Health Equity Leadership & Exchange Network states that “health equity exists when all people, regardless of race, sex, sexual orientation, disability, socioeconomic status, geographic location, or other societal ...
  • Transient Differentiation-State Plasticity Occurs during Acute Lymphoblastic Leukemia Initiation 
    Poort, Vera M.; Hagelaar, Rico; van Roosmalen, Markus J.; Trabut, Laurianne; Buijs-Gladdines, Jessica G.C.A.M.; van Wijk, Bram; Meijerink, Jules; van Boxtel, Ruben (American Association for Cancer Research Inc., 2024-08-15)
    Leukemia is characterized by oncogenic lesions that result in a block of differentiation, whereas phenotypic plasticity is retained. A better understanding of how these two phenomena arise during leukemogenesis in humans ...
  • Longevity of a Brain-Computer Interface for Amyotrophic Lateral Sclerosis 
    Vansteensel, Mariska J.; Leinders, Sacha; Branco, Mariana P.; Crone, Nathan E.; Denison, Timothy; Freudenburg, Zachary V.; Geukes, Simon H.; Gosselaar, Peter H.; Raemaekers, Mathijs; Schippers, Anouck; Verberne, Malinda; Aarnoutse, Erik J.; Ramsey, Nick F. (Massachussetts Medical Society, 2024-08-15)
    Summary The durability of communication with the use of brain-computer interfaces in persons with progressive neurodegenerative disease has not been extensively examined. We report on 7 years of independent at-home use of ...
  • Physical activity, sedentary behaviour, and childhood asthma: a European collaborative analysis 
    Eijkemans, Marianne; Mommers, Monique; Harskamp-van Ginkel, Margreet W.; Vrijkotte, Tanja G.M.; Ludvigsson, Johnny; Faresjö, Åshild; Bergström, Anna; Ekström, Sandra; Grote, Veit; Koletzko, Berthold; Bønnelykke, Klaus; Eliasen, Anders Ulrik; Bager, Peter; Melbye, Mads; Annesi-Maesano, Isabella; Baïz, Nour; Barros, Henrique; Santos, Ana Cristina; Duijts, Liesbeth; Mensink-Bout, Sara M.; Flexeder, Claudia; Koletzko, Sibylle; Schikowski, Tamara; Eggesbø, Merete Åse; Lenters, Virissa; Fernández-Tardón, Guillermo; Subiza-Perez, Mikel; Garcia-Aymerich, Judith; López-Vicente, Mónica; Sunyer, Jordi; Torrent, Maties; Ballester, Ferran; Kelleher, Cecily; Mehegan, John; Berg, Andrea von; Herberth, Gunda; Standl, Marie; Kuehni, Claudia E.; Pedersen, Eva S.L.; Jansen, Maria; Gehring, Ulrike; Boer, Jolanda M.A.; Devereux, Graham; Turner, Steve; Peltola, Ville; Lagström, Hanna; Inskip, Hazel M.; Pike, Katharine C.; Dalmeijer, Geertje W.; Ent, Cornelis K.van der; Thijs, Carel (BMJ Publishing Group, 2024-08-15)
    OBJECTIVES: To investigate the associations of physical activity (PA) and sedentary behaviour in early childhood with asthma and reduced lung function in later childhood within a large collaborative study. DESIGN: Pooling ...
  • Oncologic Outcomes of Incidental Versus Biopsy-diagnosed Grade Group 1 Prostate Cancer: A Multi-institutional Study 
    Leni, Riccardo; Vertosick, Emily A.; van den Bergh, Roderick C.N.; Soeterik, Timo F.W.; Heetman, Joris G.; van Melick, Harm H.E.; Roscigno, Marco; La Croce, Giovanni; Da Pozzo, Luigi F.; Olivier, Jonathan; Zattoni, Fabio; Facco, Matteo; Dal Moro, Fabrizio; Chiu, Peter K.F.; Wu, Xiaobo; Heidegger, Isabel; Giannini, Giulia; Bianchi, Lorenzo; Lampariello, Luca; Quarta, Leonardo; Salonia, Andrea; Montorsi, Francesco; Briganti, Alberto; Capitanio, Umberto; Carlsson, Sigrid V.; Vickers, Andrew J.; Gandaglia, Giorgio; EAU-YAU Prostate Cancer Working Group (Elsevier, 2024-10)
    Background and objective: Patients diagnosed with grade group (GG) 1 prostate cancer (PCa) following treatment for benign disease (“incidental” PCa) are typically managed with active surveillance (AS). It is not known how ...
  • The pleiotropic role of interleukin-13 in the pathogenesis of atopic dermatitis 
    Dekkers, Coco; De Bruin-Weller, Marjolein (Wiley-Blackwell, 2024-09)
  • Patient self-reported pain and nausea via smartphone following day care surgery, first year results: An observational cohort study 
    Thiel, Bram; Blaauboer, Jamey; Seesing, Chiem; Radmanesh, Jamshid; Koopman, Seppe; Kalkman, Cor; Godfried, Marc (Public Library of Science, 2024-07)
    Contact with the hospital is usually limited for patients after day care surgery. Dedicated smartphone applications can improve communication and possibly enhance outcomes. The objective of this retrospective study was to ...