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UMC Repository: Recent submissions

  • Management of adult-onset Still's disease: evidence- and consensus-based recommendations by experts 
    Leavis, Helen L; van Daele, Paul L A; Mulders-Manders, Catharina; Michels, Renée; Rutgers, Abraham; Legger, Elizabeth; Bijl, Marc; Hak, Elisabeth A; Lam-Tse, Wai-Kwan; Bonte-Mineur, Femke; Fretter, Peter; Simon, Anna; van Paassen, Pieter; van der Goes, Marlies; Flendrie, Marcel; Vercoutere, Ward; van Lieshout, Antoine W T; Leek, Arjen; Vastert, Sebastiaan J; Tas, Sander W (Oxford University Press, 2024-06-01)
    Objectives: Adult-onset Still's disease (AOSD) is a rare condition characterized by fevers, rash, and arthralgia/arthritis; most doctors treating AOSD in the Netherlands treat <5 patients per year. Currently, there is no ...
  • Practical aspects of cardiopulmonary exercise testing in children 
    Takken, Tim; Hulzebos, Erik H (Georg Thieme Verlag, 2024-06)
    The use of cardiopulmonary exercise testing (CPET) in pediatrics provides critical insights into potential physiological causes of unexplained exercise-related complaints or symptoms, as well as specific pathophysiological ...
  • Precision psychiatry: predicting predictability 
    Van Dellen, Edwin (Cambridge University Press, 2024-06)
    Precision psychiatry is an emerging field that aims to provide individualized approaches to mental health care. An important strategy to achieve this precision is to reduce uncertainty about prognosis and treatment response. ...
  • Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study 
    Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Triquenot, Aude B.; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M.; Worrall, Bradford B.; Majersik, Jennifer J.; Putaala, Jukka; Haapaniemi, Elena; Zuurbier, Susanna; Brouwer, Matthijs C.; Passamonti, Serena M.; Abbattista, Maria; Bucciarelli, Paolo; Lemmens, Robin; Pappalardo, Emanuela; Costa, Paolo; Colombi, Marina; De Sousa, Diana Aguiar; Rodrigues, Sofia G.; Canhao, Patrícia; Tkach, Aleksander; Santacroce, Rosa; Favuzzi, Giovanni; Arauz, Antonio; Colaizzo, Donatella; Spengos, Konstantinos; Hodge, Amanda; Ditta, Reina; Pezzini, Alessandro; Coutinho, Jonathan M.; Thijs, Vincent N.; Jood, Katarina; Pare, Guillaume; Tatlisumak, Turgut; Ferro, José M.; Sharma, Pankaj (Lippincott Williams & Wilkins, 2024-06-11)
    BACKGROUND AND OBJECTIVES: Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing heritability. ...
  • DNA Methylation Profiling Enables Accurate Classification of Nonductal Primary Pancreatic Neoplasms 
    Verschuur, Anna Vera D.; Hackeng, Wenzel M.; Westerbeke, Florine; Benhamida, Jamal K.; Basturk, Olca; Selenica, Pier; Raicu, G. Mihaela; Molenaar, I. Quintus; van Santvoort, Hjalmar C.; Daamen, Lois A.; Klimstra, David S.; Yachida, Shinichi; Luchini, Claudio; Singhi, Aatur D.; Geisenberger, Christoph; Brosens, Lodewijk A.A. (W.B. Saunders, 2024-06)
    Background & Aims: Cytologic and histopathologic diagnosis of non-ductal pancreatic neoplasms can be challenging in daily clinical practice, whereas it is crucial for therapy and prognosis. The cancer methylome is successfully ...
  • A review on side effect management of second-generation antipsychotics to treat schizophrenia: a drug safety perspective 
    Strube, Wolfgang; Wagner, Elias; Luykx, Jurjen J; Hasan, Alkomiet (Informa Healthcare, 2024-06)
    INTRODUCTION: Effective side effects management present a challenge in antipsychotic treatment with second-generation antipsychotics (SGAs). In recent years, most of the commonly used SGAs, except for clozapine, have been ...
  • Cell division-dependent dissemination following E-cadherin loss underlies initiation of diffuse-type gastric cancer 
    Monster, Jooske L; Kemp, Lars Js; Busslinger, Georg A; Vliem, Marjolein J; Derks, Lucca Lm; Staes, Annelot Al; Bisseling, Tanya M; Clevers, Hans; van der Post, Rachel S; Gloerich, Martijn (John Wiley & Sons Inc., 2024-06)
    Loss of the cell–cell adhesion protein E-cadherin underlies the development of diffuse-type gastric cancer (DGC), which is characterized by the gradual accumulation of tumor cells originating from the gastric epithelium ...
  • Prothrombin forced into an awkward position 
    Urbanus, Rolf T. (Elsevier, 2024-05-09)
  • The digital motor output: a conceptual framework for a meaningful clinical performance metric for a motor neuroprosthesis 
    Sawyer, Abbey; Cooke, Lily; Ramsey, Nick F; Putrino, David (BMJ Publishing Group, 2024-05-01)
    In recent years, the majority of the population has become increasingly reliant on continuous and independent control of smart devices to conduct activities of daily living. Upper extremity movement is typically required ...
  • Gender differences in the associations between childhood adversity and psychopathology in the general population 
    Prachason, Thanavadee; Mutlu, Irem; Fusar-Poli, Laura; Menne-Lothmann, Claudia; Decoster, Jeroen; van Winkel, Ruud; Collip, Dina; Delespaul, Philippe; De Hert, Marc; Derom, Catherine; Thiery, Evert; Jacobs, Nele; Wichers, Marieke; van Os, Jim; Rutten, Bart P F; Pries, Lotta-Katrin; Guloksuz, Sinan (D. Steinkopff-Verlag, 2024-05)
    PURPOSE: To explore gender differences of the associations between childhood adversity (CA) subtypes and psychiatric symptoms in the general population. METHODS: Data of 791 participants were retrieved from a general ...
  • Bleeding control improves after switching to emicizumab: Real-world experience of 177 children in the PedNet registry 
    van der Zwet, Konrad; de Kovel, Marloes; Motwani, Jayashree; van Geet, Chris; Nolan, Beatrice; Glosli, Heidi; Escuriola Ettingshausen, Carmen; Königs, Christoph; Kenet, Gili; Fischer, Kathelijn; PedNet Investigators (Wiley-Blackwell, 2024-05)
    Introduction: Despite the rapid uptake of emicizumab in the paediatric haemophilia A (HA) population, real-world data on the safety and efficacy is limited. Aim: To report on bleeding and safety in paediatric patients ...
  • Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review 
    Ukonmaanaho, Elli-Maija; Dell'Anna, Silvia; Hakonen, Anna; Wartiovaara-Kautto, Ulla; Kakko, Sakari; Rab, Minke A E; van Oirschot, Brigitte; Kraatari-Tiri, Minna; van Wijk, Richard; Rahikkala, Elisa (Wiley-Blackwell, 2024-05)
    The hexokinase (HK) enzyme plays a key role in red blood cell energy production. Hereditary non-spherocytic haemolytic anaemia (HNSHA) caused by HK deficiency is a rare disorder with only 12 different disease-associated ...
  • Challenging the dogma: Red blood cell-directed autoimmunity as risk factor for red blood cell alloimmunisation after blood transfusion 
    Oud, Josine A.; de Haas, Masja; de Vooght, Karen M.K.; van de Kerkhof, Daan; Som, Nel; Péquériaux, Nathalie C.V.; Hudig, Francisca; van der Bom, Johanna G.; Evers, Dorothea; Zwaginga, Jaap Jan (Wiley-Blackwell, 2024-05)
    Red blood cell autoimmunity and alloimmunity are potentially linked. Quantification of this association can tailor extensively matched red blood cell transfusions in patients with autoimmunity. Using an incident new-user ...
  • CBP/P300 Inhibition Impairs CD4+ T Cell Activation: Implications for Autoimmune Disorders 
    Picavet, Lucas Wilhelmus; Samat, Anoushka A K; Calis, Jorg; Nijhuis, Lotte; Scholman, Rianne; Mokry, Michal; Tough, David F; Prinjha, Rabinder K; Vastert, Sebastiaan J; van Loosdregt, Jorg (MDPI AG, 2024-06-18)
    T cell activation is critical for an effective immune response against pathogens. However, dysregulation contributes to the pathogenesis of autoimmune diseases, including Juvenile Idiopathic Arthritis (JIA). The molecular ...
  • Etranacogene dezaparvovec gene therapy for haemophilia B (HOPE-B): 24-month post-hoc efficacy and safety data from a single-arm, multicentre, phase 3 trial 
    Coppens, Michiel; Pipe, Steven W.; Miesbach, Wolfgang; Astermark, Jan; Recht, Michael; van der Valk, Paul; Ewenstein, Bruce; Pinachyan, Karen; Galante, Nicholas; Le Quellec, Sandra; Monahan, Paul E.; Leebeek, Frank W.G.; HOPE-B Investigators (Lancet Publishing Group, 2024-04)
    Background: Etranacogene dezaparvovec, the first gene therapy approved for haemophilia B treatment, was shown to be superior to treatment with continuous prophylactic factor IX in terms of bleeding protection 18 months ...
  • Information Provision Regarding Health-Related Direct-to-Consumer Genetic Testing for Dutch Consumers: An in-Depth Content Analysis of Sellers’ Websites 
    Bruins, Danny; Onstwedder, Suzanne M.; Cornel, Martina C.; Ausems, Margreet G.E.M.; van Mil, Marc H.W.; Rigter, Tessel (Multidisciplinary Digital Publishing Institute (MDPI), 2024-04-20)
    Background: Previous studies have suggested that information offered by sellers of health-related direct-to-consumer genetic tests (DTC-GTs) is often incomplete, unbalanced, or too difficult to understand. The extent to ...
  • Assessment of Small Vessel Function Using 7T MRI in Patients With Sporadic Cerebral Small Vessel Disease: The ZOOM@SVDs Study 
    Van Den Brink, Hilde; Pham, Stanley; Siero, Jeroen C.; Arts, Tine; Onkenhout, Laurien; Kuijf, Hugo; Hendrikse, Jeroen; Wardlaw, Joanna M.; Dichgans, Martin; Zwanenburg, Jaco J.; Biessels, Geert Jan (Lippincott Williams & Wilkins, 2024-03-12)
    BACKGROUND AND OBJECTIVES: Cerebral small vessel disease (cSVD) is a major cause of stroke and dementia, but little is known about disease mechanisms at the level of the small vessels. 7T-MRI allows assessing small vessel ...
  • Impaired LAIR-1-mediated immune control due to collagen degradation in fibrosis 
    Carvalheiro, Tiago; Marut, Wioleta; Pascoal Ramos, M. Inês; García, Samuel; Fleury, Devan; Affandi, Alsya J.; Meijers, Aniek S.; Giovannone, Barbara; Tieland, Ralph G.; Elshof, Eline; Ottria, Andrea; Cossu, Marta; Meizlish, Matthew L.; Veenendaal, Tineke; Ramanujam, Meera; Moreno-García, Miguel E.; Klumperman, Judith; Liv, Nalan; Radstake, Timothy R.D.J.; Meyaard, Linde (Academic Press Inc., 2024-06)
    Tissue repair is disturbed in fibrotic diseases like systemic sclerosis (SSc), where the deposition of large amounts of extracellular matrix components such as collagen interferes with organ function. LAIR-1 is an inhibitory ...
  • Psychiatric comorbidity and trauma: impact on inpatient outcomes and implications for future management 
    Meyer, Maximilian Arthur; van den Bosch, Tijmen; Millenaar, Zita; Heng, Marilyn; Leenen, Loek; Hietbrink, Falco; Houwert, Roderick Marijn; Kromkamp, Marjan; Nelen, Stijn Diederik (Springer International Publishing AG, 2024-04)
    Purpose: This study aimed to quantify the impact of pre-existing psychiatric illness on inpatient outcomes after major trauma and to assess acuity of psychiatric presentation as a predictor of outcomes. Methods: A retrospective ...
  • Rescue Allocation Modes in Eurotransplant Kidney Transplantation: Recipient Oriented Extended Allocation Versus Competitive Rescue Allocation-A Retrospective Multicenter Outcome Analysis 
    Assfalg, Volker; Miller, Gregor; Stocker, Felix; Hüser, Norbert; Hartmann, Daniel; Heemann, Uwe; Tieken, Ineke; Zanen, Wouter; Vogelaar, Serge; Rosenkranz, Alexander R; Schneeberger, Stefan; Függer, Reinhold; Berlakovich, Gabriela; Ysebaert, Dirk R; Jacobs-Tulleneers-Thevissen, Daniel; Mikhalski, Dimitri; van Laecke, Steven; Kuypers, Dirk; Mühlfeld, Anja S; Viebahn, Richard; Pratschke, Johann; Melchior, Sebastian; Hauser, Ingeborg A; Jänigen, Bernd; Weimer, Rolf; Richter, Nicolas; Foller, Susan; Schulte, Kevin; Kurschat, Christine; Harth, Ana; Moench, Christian; Rademacher, Sebastian; Nitschke, Martin; Krämer, Bernhard K; Renders, Lutz; Koliogiannis, Dionysios; Pascher, Andreas; Hoyer, Joachim; Weinmann-Menke, Julia; Schiffer, Mario; Banas, Bernhard; Hakenberg, Oliver; Schwenger, Vedat; Nadalin, Silvio; Lopau, Kai; Piros, Laszlo; Nemes, Balazs; Szakaly, Peter; Bouts, Antonia; Bemelman, Frederike J; Sanders, Jan S; de Vries, Aiko P J; Christiaans, Maarten H L; Hilbrands, Luuk; van Zuilen, Arjan D; Arnol, Miha; Stippel, Dirk; Wahba, Roger (Lippincott Williams & Wilkins, 2024-05-01)
    BACKGROUND: Whenever the kidney standard allocation (SA) algorithms according to the Eurotransplant (ET) Kidney Allocation System or the Eurotransplant Senior Program fail, rescue allocation (RA) is initiated. There are 2 ...