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UMC Repository: Recent submissions

  • CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature 
    van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B.A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M.S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter (Elsevier, 2025-01-09)
    Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. ...
  • Immunomodulation by galectin-9: Distinct role in T cell populations, current therapeutic avenues and future potential 
    Gossink, Eva M.; Coffer, Paul J.; Cutilli, Alessandro; Lindemans, Caroline A. (Academic Press Inc., 2025-01)
    Galectins, glycan-binding proteins, have been identified as critical regulators of the immune system. Recently, Galectin-9 (Gal-9) has emerged as biomarker that correlates with disease severity in a range of inflammatory ...
  • Response to Letter to the Editors “Neurophenomenological Investigation of Mindfulness Meditation “Cessation” Experiences Using EEG Network Analysis in an Intensively Sampled Adept Meditator” 
    van Lutterveld, Remko; Chowdhury, Avijit; Ingram, Daniel M.; Sacchet, Matthew D. (Kluwer Academic/Human Sciences Press Inc., 2025-01)
  • Assessing the Cause of Death for Men with Prostate Cancer Using Official Mortality Statistics or a Dedicated Cause of Death Committee: Results from 30-year ERSPC Rotterdam Data 
    Remmers, Sebastiaan; de Vos, Ivo I.; Denijs, Frederique B.; Leenen, Renée C.A.; Lock, Tycho M.T.W.; Noordzij, Arjen; Kirkels, Wim J.; Bangma, Chris H.; Roobol, Monique J.; the ERSPC Rotterdam study group (Elsevier, 2025-01)
    For men with prostate cancer (PCa) within the European Randomized Study of Screening for Prostate Cancer (ERSPC), the cause of death is determined by a Cause of Death Committee (CODC) that evaluates all medical records ...
  • Comparative Analysis of Surgical Outcomes in Separation Surgery vs. Anterior Reconstruction for Metastatic Epidural Spinal Cord Compression 
    Amelink, Jantijn J.G.J.; Pierik, Robertus J.B.; Groot, Olivier Q.; Shin, John H.; Verlaan, Jorrit Jan; Tobert, Daniel G. (Lippincott Williams & Wilkins, 2025-05-01)
    Study Design. Retrospectively matched case-control study Objective. To compare intraoperative and postoperative outcomes between separation surgery and corpectomy with anterior reconstruction for patients with metastatic ...
  • Development and Validation of a Clinical Score to Predict Epilepsy after Cerebral Venous Thrombosis 
    Lindgren, Erik; Shu, Liqi; Simaan, Naaem; Krzywicka, Katarzyna; De Winter, Maria A.; Sánchez Van Kammen, Mayte; Molad, Jeremy; Klein, Piers; Hallevi, Hen; Barnea, Rani; Heldner, Mirjam R.; Hiltunen, Sini; De Sousa, Diana Aguiar; Ferro, José M.; Arauz, Antonio; Putaala, Jukka; Arnold, Marcel; Nguyen, Thanh N.; Stretz, Christoph; Tatlisumak, Turgut; Jood, Katarina; Yaghi, Shadi; Leker, Ronen R.; Coutinho, Jonathan M.; Mansour, Maryam; Canhão, Patrícia; Ekizoglu, Esme; Rodrigues, Miguel; Silva, Elisa M.; Garcia-Esperon, Carlos; Arnao, Valentina; Aladin, Shorooq; Mendel, Rom; Aridon, Paolo; Sezgin, Mine; Alasheev, Andrey; Smolkin, Andrey; Guisado-Alonso, Daniel; Yesilot, Nilufer; Barboza, Miguel A.; Ghiasian, Masoud; Silvis, Suzanne M.; Fang, Ton; Siegler, James E.; Wu, Teddy; Wilson, Duncan; Asad, Syed Daniyal; Al Kasab, Sami; Almallouhi, Eyad; Frontera, Jennifer; the DIAS research collaboration (American Medical Association, 2024-12-09)
    Importance: One of 10 patients develop epilepsy in the late phase after cerebral venous thrombosis (CVT) diagnosis but predicting the individual risk is difficult. Objective: To develop and externally validate a prognostic ...
  • Implications of Implementing Children's Oncology Group Risk Stratification to Patients With Rhabdomyosarcoma Treated on European Paediatric Soft Tissue Sarcoma Study Group Clinical Trial 
    Bisogno, Gianni; Minard-Colin, Veronique; Haduong, Josephine; Zanetti, Ilaria; Ferrari, Andrea; Chisholm, Julia; Heske, Christine M.; Hladun, Raquel; Jenney, Meriel; Merks, Johannes Hendrikus Maria; Venkatramani, Rajkumar (Wiley-Liss Inc., 2025-02)
    Background: Prognostic factors are crucial in tailoring treatments for patients with rhabdomyosarcoma (RMS). The European paediatric Soft tissue sarcoma Study Group (EpSSG) and the Children's Oncology Group (COG) employ ...
  • GLP-1 receptor agonist semaglutide reduces appetite while increasing dopamine reward signaling 
    Kooij, Karlijn L.; Koster, Derek IJsbrand; Eeltink, Emma; Luijendijk, Mieneke; Drost, Lisa; Ducrocq, Fabien; Adan, Roger A.H. (2024-03-22)
    Semaglutide, a glucagon-like peptide-1 receptor agonist, is an effective drug reducing body weight and decreasing motivation for palatable food. The mechanisms underlying its effects on food reward remain unclear. We aimed ...
  • The STRESS-EU database: A European resource of human acute stress studies for the worldwide research community 
    Sep, Milou S.C.; Veenman, Kim; Vinkers, Christiaan; Habets, Philippe C.; Bonapersona, Valeria; Bakvis, Patricia; Bentele, Ulrike; Binder, Elisabeth; Branje, Susan J.T.; Brückl, Tanja; Cornelisse, Sandra; Dickinson, Philip; Elzinga, Bernet M.; Evers, Andrea W.M.; Fernández, Guillén; Geuze, Elbert; Hartman, Catharina A.; Hermans, Erno J.; Hernaus, Dennis; Joëls, Marian; Kaldewaij, Reinoud; Meeus, Wim H.J.; Meier, Maria; van Middendorp, Henriët; Nelemans, Stefanie A.; Oei, Nicole; Oldehinkel, Tineke; van Peer, Jacobien; Pruessner, Jens; Quaedflieg, Conny; Roelofs, Karin; de Rooij, Susanne R.; Schwabe, Lars; Smeets, Tom; Spoormaker, Victor; Tollenaar, Marieke S.; Tutunji, Rayyan; Tyborowska, Anna; STRESS-EU consortium; Consortium members (2024-04-11)
    Our current understanding of the human stress response and its role in health, resilience, and (psycho)pathology stems largely from acute stress studies in controlled laboratory settings. Comparability of findings across ...
  • Editor's Choice – European Journal of Vascular and Endovascular Surgery Publication Standards for Reporting Vascular Surgical Research 
    de Borst, Gert J.; Boyle, Jonathan R.; Dick, Florian; Kakkos, Stavros K.; Mani, Kevin; Mills, Joseph L.; Björck, Martin (W.B. Saunders Ltd, 2025-01)
    Objective: Manuscripts submitted to the European Journal of Vascular and Endovascular Surgery (EJVES) often contain shortcomings in baseline scientific principles and incorrectly applied methodology. Consequently, the ...
  • Awareness of Breast Cancer Risk Factors in Women with vs. Without High Breast Density 
    Endrikat, Jan; Schmidt, Gilda; Oak, Bhagyashree; Shukla, Viplav; Nangia, Prakirti; Schleyer, Nicolas; Crocker, John; Pijnapppel, Ruud (Dove Medical Press Ltd., 2024-07-31)
    Purpose: Women with high breast density (HBD) carry an increased risk for breast cancer (BC). The aim of the study was to provide data on awareness and knowledge gaps among women with vs w/o HBD about BC risk factors ...
  • The respiratory syncytial virus vaccine and monoclonal antibody landscape: the road to global access 
    Terstappen, Jonne; Hak, Sarah F.; Bhan, Anant; Bogaert, Debby; Bont, Louis J.; Buchholz, Ursula J.; Clark, Andrew D.; Cohen, Cheryl; Dagan, Ron; Feikin, Daniel R.; Graham, Barney S.; Gupta, Anuradha; Haldar, Pradeep; Jalang'o, Rose; Karron, Ruth A.; Kragten, Leyla; Li, You; Löwensteyn, Yvette N.; Munywoki, Patrick K.; Njogu, Rosemary; Osterhaus, Ab; Pollard, Andrew J.; Nazario, Luiza Reali; Sande, Charles; Satav, Ashish R.; Srikantiah, Padmini; Stein, Renato T.; Thacker, Naveen; Thomas, Rachael; Bayona, Marta Tufet; Mazur, Natalie I. (Elsevier Limited, 2024-12)
    Respiratory syncytial virus (RSV) is the second most common pathogen causing infant mortality. Additionally, RSV is a major cause of morbidity and mortality in older adults (age ≥60 years) similar to influenza. A protein-based ...
  • Losing, regaining, and continuing to build self-confidence–a qualitative, phenomenological study of being physically active with a type B aortic dissection 
    Burger, Joren J.; van Bemmel, Connie; Keukens, Deborah; Pomstra, Roelie; van der Wees, Philip J.; Koenders, Niek (Informa Healthcare, 2025)
    Purpose: To gain a comprehensive understanding of experiences related to being physically active in participants with an uncomplicated type B aortic dissection. Materials and methods: We performed a qualitative, phenomenological ...
  • Prevention and rehabilitation after heart transplantation: A clinical consensus statement of the European Association of Preventive Cardiology, Heart Failure Association of the ESC, and the European Cardio Thoracic Transplant Association, a section of ESOT 
    Simonenko, Maria; Hansen, Dominique; Niebauer, Josef; Volterrani, Maurizio; Adamopoulos, Stamatis; Amarelli, Cristiano; Ambrosetti, Marco; Anker, Stefan D.; Bayes-Genis, Antonio; Gal, Tuvia Ben; Bowen, T. Scott; Cacciatore, Francesco; Caminiti, Giuseppe; Cavarretta, Elena; Chioncel, Ovidiu; Coats, Andrew J.S.; Cohen-Solal, Alain; D'Ascenzi, Flavio; de Pablo Zarzosa, Carmen; Gevaert, Andreas B.; Gustafsson, Finn; Kemps, Hareld; Hill, Loreena; Jaarsma, Tiny; Jankowska, Ewa; Joyce, Emer; Krankel, Nicolle; Lainscak, Mitja; Lund, Lars H.; Moura, Brenda; Nytrøen, Kari; Osto, Elena; Piepoli, Massimo; Potena, Luciano; Rakisheva, Amina; Rosano, Giuseppe; Savarese, Gianluigi; Seferovic, Petar M.; Thompson, David R.; Thum, Thomas; Van Craenenbroeck, Emeline M. (Oxford University Press, 2024-09)
    Little is known either about either physical activity patterns, or other lifestyle-related prevention measures in heart transplantation (HTx) recipients. The history of HTx started more than 50 years ago but there are still ...
  • Longitudinal serum bicarbonate and mortality risk in older patients with advanced chronic kidney disease: Analyses from the EQUAL cohort 
    Lombardi, Gianmarco; Chesnaye, Nicholas C.; Caskey, Fergus J.; Dekker, Friedo W.; Evans, Marie; Heimburger, Olof; Pippias, Maria; Torino, Claudia; Szymczak, MacIej; Drechsler, Christiane; Wanner, Christoph; Gambaro, Giovanni; Stel, Vianda S.; Jager, Kitty J.; Ferraro, Pietro Manuel; the EQUAL Study Investigators (Oxford University Press, 2024-11-01)
    Background: We aimed to explore the relationship between serum bicarbonate (SBC) and mortality in advanced chronic kidney disease (CKD) during three distinct treatment periods: during the pre-kidney replacement therapy ...
  • Prescribing patterns in older people with advanced chronic kidney disease towards the end of life 
    Letts, Matthew; Chesnaye, Nicholas; Pippias, Maria; Caskey, Fergus; Jager, Kitty; Dekker, Friedo W.; Van Diepen, Merel; Evans, Marie; Torino, Claudia; Vilasi, Antonio; Szymczak, Maciej; Drechsler, Christiane; Wanner, Christoph; Hole, Barnaby; Hayward, Samantha; the EQUAL Study Investigators (Oxford University Press, 2024-11-01)
    Background: Advancing age and chronic kidney disease (CKD) are risk factors for polypharmacy. Polypharmacy is associated with negative healthcare outcomes. Deprescribing, the systematic rationalization of potentially ...
  • Prevalence and determinants of dyslipidemia in 2,338 Dutch childhood cancer survivors: a DCCS-LATER 2 Study 
    Bolier, M; Pluimakers, V G; de Winter, D T C; Fiocco, M; van den Berg, S A A; Bresters, D; van Dulmen-den Broeder, E; van der Heiden-van der Loo, M; Höfer, I; Janssens, G O; Kremer, L C M; Loonen, J J; Louwerens, M; van der Pal, H J; Pluijm, S M F; Tissing, W J E; van Santen, H M; de Vries, A C H; van der Lely, A J; van den Heuvel-Eibrink, M M; Neggers, S J C M M (Oxford University Press, 2024-12-01)
    Objective: Childhood cancer survivors (CCS) face an increased risk of early cardiovascular disease (CVD). In our nationwide CCS cohort, we assessed the prevalence and determinants of dyslipidemia, a well-established risk ...
  • Calcified Pseudocoarctation After Thoracic Endovascular Aortic Repair: A Hard Case to Crack 
    van der Vorst, Joost R; Teraa, Martin (Elsevier Limited, 2023-11-22)
  • Slim Fit Off the Shelf Branched Endografts: The New Fashion? 
    Teraa, Martin; Jongkind, Vincent (W.B. Saunders Ltd, 2025-03)
  • Comparison of capillary finger stick and venous blood sampling for 34 routine chemistry analytes: potential for in hospital and remote blood sampling 
    Doeleman, Martijn J H; Koster, Anne-Fleur; Esseveld, Anouk; Kemperman, Hans; Swart, Joost F; de Roock, Sytze; Tiel Groenestege, Wouter M (Walter de Gruyter GmbH, 2025)
    Objectives: This study examined the comparability of venous and capillary blood samples with regard to routine chemistry analytes. Methods: Venous and capillary blood samples were collected from adult patients to assess ...