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  • Bilateral Slipped Capital Femoral Epiphysis in a Young Girl Treated with Chemotherapy: A Case Report 
    Van Erp, J. H.J.; Kuperus, J. S.; Bekkers, J. E.J.; Kruyt, M. C. (Lippincott Williams & Wilkins, 2024-04)
    Case:A 1-year-old girl was treated with chemotherapy and hematopoietic stem cell transplantation because of CD40 ligand deficiency. Four years later, she presented with pain in her right leg, diagnosed as atypical acute ...
  • Real-time MRI-guided cardiac radiotherapy: adapting treatment within a heartbeat 
    Akdag, Osman (Utrecht University, 2024-09-04)
    The technical feasibility of treating a non-oncological cardiac arrhythmia condition with radioablation was explored on the MR-linac. We have shown that the 1.5 T Unity MR-linac is capable of simultaneously mitigating ...
  • Macrophage vesicles in antidiabetic drug action 
    Stienstra, Rinke; Kalkhoven, Eric (Springer Berlin, 2024-05)
    Thiazolidinediones (TZDs) are potent insulin-sensitizing drugs, but their use is accompanied by adverse side-effects. Rohm et al. now report that TZD-stimulated macrophages release miR-690-containing vesicles that improve ...
  • Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1) 
    Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J.M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L.E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J.K.; Bryant, Laura M. (Springer Nature, 2024-08)
    An author was not named. The missing author is: “Annick Toutain” Her affiliation is: 27 Service de Génétique, CHU de Tours, Tours, France. 28 UMR1253, iBrain, Inserm, University of Tours, Tours, France.
  • Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation 
    Otmani, Hinde El; Vanhoorelbeke, Karen; Tersteeg, Claudia (Lippincott Williams & Wilkins, 2024-09-01)
    Purpose of reviewVon Willebrand factor (VWF) plays a pivotal role in primary hemostasis. A Disintegrin And Metalloproteinase with a ThromboSpondin type 1 motif, member 13 (ADAMTS13) is primarily responsible for cleaving ...
  • EAU-EANM-ESTRO-ESUR-ISUP-SIOG Guidelines on Prostate Cancer. Part II—2024 Update: Treatment of Relapsing and Metastatic Prostate Cancer 
    Tilki, Derya; van den Bergh, Roderick C.N.; Briers, Erik; Van den Broeck, Thomas; Brunckhorst, Oliver; Darraugh, Julie; Eberli, Daniel; De Meerleer, Gert; De Santis, Maria; Farolfi, Andrea; Gandaglia, Giorgio; Gillessen, Silke; Grivas, Nikolaos; Henry, Ann M.; Lardas, Michael; J.L.H. van Leenders, Geert; Liew, Matthew; Linares Espinos, Estefania; Oldenburg, Jan; van Oort, Inge M.; Oprea-Lager, Daniela E.; Ploussard, Guillaume; Roberts, Matthew J.; Rouvière, Olivier; Schoots, Ivo G.; Schouten, Natasha; Smith, Emma J.; Stranne, Johan; Wiegel, Thomas; Willemse, Peter Paul M.; Cornford, Philip (Elsevier, 2024-08)
    Background and objective: The European Association of Urology (EAU)-European Association of Nuclear Medicine (EANM)-European Society for Radiotherapy and Oncology (ESTRO)-European Society of Urogenital Radiology ...
  • Iron deficiency, anemia, and patient-reported outcomes in kidney transplant recipients 
    Kremer, Daan; Knobbe, Tim J.; Vinke, Joanna Sophia J.; Groothof, Dion; Post, Adrian; Annema, Coby; Abrahams, Alferso C.; van Jaarsveld, Brigit C.; de Borst, Martin H.; Berger, Stefan P.; Bakker, Stephan J.L.; Eisenga, Michele F.; TransplantLines Investigators (Elsevier, 2024-08)
    Kidney transplant recipients (KTRs) experience more fatigue, anxiety, and depressive symptoms and lower concentration and health-related quality of life (HRQoL) compared with the general population. Anemia is a potential ...
  • Development, implementation, and scalability of the Family Engagement in Research Course: a novel online course for family partners and researchers in neurodevelopmental disability and child health 
    Cross, Andrea; Soper, Alice Kelen; Thomson, Donna; Putterman, Connie; McCauley, Dayle; Micsinszki, Samantha K.; Martens, Rachel; Solomon, Patricia; Carter, Lorraine; Reynolds, James N.; de Camargo, Olaf Kraus; Gorter, Jan Willem (BioMed Central Ltd., 2024-08-05)
    Background: Since 2011 when the Canadian Institutes of Health Research launched the Strategy for Patient Oriented Research, there has been a growing expectation to embed patient-oriented research (POR) in the health research ...
  • Discovery of new myositis genetic associations through leveraging other immune-mediated diseases 
    Reales, Guillermo; Amos, Christopher I.; Benveniste, Olivier; Chinoy, Hector; De Bleecker, Jan; De Paepe, Boel; Doria, Andrea; Gregersen, Peter K.; Lamb, Janine A.; Limaye, Vidya; Lundberg, Ingrid E.; Machado, Pedro M.; Maurer, Britta; Miller, Frederick W.; Molberg, Øyvind; Pachman, Lauren M.; Padyukov, Leonid; Radstake, Timothy R.; Reed, Ann M.; Rider, Lisa G.; Rothwell, Simon; Selva-O'Callaghan, Albert; Vencovský, Jiri; Wedderburn, Lucy R.; Wallace, Chris; Myositis Genetics Consortium (Elsevier, 2024-10-10)
    Genome-wide association studies (GWASs) have been successful at finding associations between genetic variants and human traits, including the immune-mediated diseases (IMDs). However, the requirement of large sample sizes ...
  • Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands 
    Deenen, Johanna C.W.; Horlings, Corinne G.C.; Voermans, Nicol C.; van Doorn, Pieter A.; Faber, Catharina G.; van der Kooi, Anneke J.; Kuks, Jan B.M.; Notermans, Nicolette C.; Visser, Leo H.; Broekgaarden, Ria H.A.; Horemans, Anja M.C.; Verschuuren, Jan J.G.M.; Verbeek, André L.M.; van Engelen, Baziel G.M. (Elsevier Limited, 2024-09)
    Most neuromuscular disorders are rare, but as a group they are not. Nevertheless, epidemiological data of specific neuromuscular disorders are scarce, especially on the incidence. We applied a capture-recapture approach ...
  • Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 
    Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J.M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M.A.van; Kroes, Hester Y.; Stumpel, Constance T.R.M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B.A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M.E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G.P.; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E.L.M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth (Cell Press, 2024-08-08)
    Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and ...
  • Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol 
    Glenthøj, Andreas; van Beers, Eduard J.; van Wijk, Richard; Rab, Minke A.E.; Groot, Evelyn; Vejlstrup, Niels; Toft, Nina; Bendtsen, Selma Kofoed; Petersen, Jesper; Helby, Jens; Chermat, Fatiha; Fenaux, Pierre; Kuo, Kevin H.M. (BMJ Publishing Group, 2024-07-30)
    Introduction Membranopathies encompass haemolytic disorders arising from genetic variants in erythrocyte membrane proteins, including hereditary spherocytosis and stomatocytosis. Congenital dyserythropoietic anaemia type ...
  • A comprehensive overview of liquid biopsy applications in pediatric solid tumors 
    Janssen, Ferdinand W.; Lak, Nathalie S.M.; Janda, Claudia Y.; Kester, Lennart A.; Meister, Michael T.; Merks, Johannes H.M.; van den Heuvel-Eibrink, Marry M.; van Noesel, Max M.; Zsiros, Jozsef; Tytgat, Godelieve A.M.; Looijenga, Leendert H.J. (Springer Nature, 2024-08)
    Liquid biopsies are emerging as an alternative source for pediatric cancer biomarkers with potential applications during all stages of patient care, from diagnosis to long-term follow-up. While developments within this ...
  • Genome-wide CRISPR-Cas9 knockout screens identify DNMT1 as a druggable dependency in sonic hedgehog medulloblastoma 
    Tsiami, Foteini; Lago, Chiara; Pozza, Noemi; Piccioni, Federica; Zhao, Xuesong; Lülsberg, Fabienne; Root, David E.; Tiberi, Luca; Kool, Marcel; Schittenhelm, Jens; Bandopadhayay, Pratiti; Segal, Rosalind A.; Tabatabai, Ghazaleh; Merk, Daniel J. (BioMed Central, 2024-08-07)
    Sonic hedgehog subgroup of medulloblastoma (SHH-MB) is characterized by aberrant activation of the SHH signaling pathway. An inhibition of the positive SHH regulator Smoothened (SMO) has demonstrated promising clinical ...
  • Treatment of persistent focalized Q fever: time has come for an international randomized controlled trial 
    Delahaye, Audrey; Eldin, Carole; Bleibtreu, Alexandre; Djossou, Félix; Marrie, Thomas J.; Ghanem-Zoubi, Nesrin; Roeden, Sonja; Epelboin, Loïc (Oxford University Press, 2024-08-01)
    Q fever is a worldwide zoonosis due to Coxiella burnetii, responsible for endocarditis and endovascular infections. Since the 1990s, the combination hydroxychloroquine + doxycycline has constituted the curative and ...
  • Computer assisted surgical anatomy mapping (CASAM) of the distal Posterior Interosseous Nerve (PIN) and its relation to the wrist arthroscopy portals: A cadaver study 
    d'Ailly, Philip N.; Poublon, Alex; Schep, Niels W.L.; Coert, J. Henk (Elsevier, 2024-10)
    Introduction: The distal Posterior Interosseous Nerve (PIN) plays an important part in the sensory innervation of the wrist joint. Introduction of the arthroscopy portals during wrist arthroscopy might injure the PIN. The ...
  • Course of the effects of LDL-cholesterol reduction on cardiovascular risk over time: A meta-analysis of 60 randomized controlled trials 
    Burger, Pascal M.; Dorresteijn, Jannick A.N.; Koudstaal, Stefan; Holtrop, Joris; Kastelein, John J.P.; Jukema, J. Wouter; Ridker, Paul M.; Mosterd, Arend; Visseren, Frank L.J. (Elsevier, 2024-09)
    Background and aims: Individuals with or at high risk of cardiovascular disease (CVD) often receive long-term treatment with low-density lipoprotein cholesterol (LDL-C) lowering therapies, but whether the effects of LDL-C ...
  • Growth differentiation factor 15 is not modified after weight loss induced by liraglutide in South Asians and Europids with type 2 diabetes mellitus 
    Hoekx, Carlijn A.; Straat, Maaike E.; Bizino, Maurice B.; van Eyk, Huub J.; Lamb, Hildebrandus J.; Smit, Johannes W.A.; Jazet, Ingrid M.; de Jager, Saskia C.A.; Boon, Mariëtte R.; Martinez-Tellez, Borja (Wiley-Blackwell, 2024-08-01)
    Abstract: Glucagon-like peptide-1 receptor (GLP-1R) agonists induce weight loss in patients with type 2 diabetes mellitus (T2DM), but the underlying mechanism is unclear. Recently, the mechanism by which metformin induces ...
  • Can the values of the venous-to-arterial pCO2 difference (pCO2 gap) be negative? A response. 
    de Keijzer, Ilonka N.; Kaufmann, Thomas; de Waal, Eric E.C.; Frank, Michael; de Korte-de Boer, Dianne; Montenij, Leonard M.; Buhre, Wolfgang F.F.A.; Scheeren, Thomas W.L. (Springer Netherlands, 2024-08)
  • Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome 
    Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J.M.; de Vries, Bert B.A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W.E.; Metcalfe, Kay; Park, Soo Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M.L.; van Gassen, Koen L.I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E.L.M.; Shinkai, Yoichi; Kleefstra, Tjitske (Cell Press, 2024-08-08)
    The shift to a genotype-first approach in genetic diagnostics has revolutionized our understanding of neurodevelopmental disorders, expanding both their molecular and phenotypic spectra. Kleefstra syndrome (KLEFS1) is ...