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UMC Repository: Recent submissions

  • Viral Infections and the Neonatal Brain 
    de Vries, Linda S. (W.B. Saunders, 2019-12-01)
    This review includes the congenital infections best known by the acronym TORCH (Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes virus), as well as Zika virus infection and perinatally acquired infections ...
  • Embracing the complexity: Older adults with cancer-related cognitive decline-A Young International Society of Geriatric Oncology Position Paper 
    Pergolotti, Mackenzi; Battisti, Nicolò Matteo Luca; Padgett, Lynne; Sleight, Alix G; Abdallah, Maya; Newman, Robin; Van Dyk, Kathleen; Covington, Kelley R; Williams, Grant R; van den Bos, Frederiek; Pollock, YaoYao; Salerno, Elizabeth A; Magnuson, Allison; Gattás-Vernaglia, Isabella F; Ahles, Tim A (Elsevier, 2020-03)
    Cancer-related cognitive decline (CRCD) may have particularly significant consequences for older adults, impacting their functional and physical abilities, level of independence, ability to make decisions, treatment ...
  • Between-center and between-country differences in outcome after aneurysmal subarachnoid hemorrhage in the Subarachnoid Hemorrhage International Trialists (SAHIT) repository 
    Members of the SAHIT Collaboration (American Association of Neurological Surgeons, 2020-10)
    OBJECTIVE: Differences in clinical outcomes between centers and countries may reflect variation in patient characteristics, diagnostic and therapeutic policies, or quality of care. The purpose of this study was to investigate ...
  • Complement C5 Contributes to Brain Injury After Subarachnoid Hemorrhage 
    van Dijk, Bart J; Meijers, Joost C M; Kloek, Anne T; Knaup, Veronique L; Rinkel, Gabriel J E; Morgan, B Paul; van der Kamp, Marije J; Osuka, Koji; Aronica, Eleonora; Ruigrok, Ynte M; van de Beek, Diederik; Brouwer, Matthijs; Pekna, Marcela; Hol, Elly M; Vergouwen, Mervyn D I (Springer US, 2020-08)
    Previous studies showed that complement activation is associated with poor functional outcome after aneurysmal subarachnoid hemorrhage (SAH). We investigated whether complement activation is underlying brain injury after ...
  • Periprocedural adverse events after endoscopic resection of T1 colorectal carcinomas 
    Dutch T1 CRC Working Group) (Mosby Inc., 2020-01-01)
    Background and Aims: In contrast to the adverse event (AE) risk of endoscopic resection (ER) of adenomas, the intra- and postprocedural AE risks of ER of T1 colorectal cancer (CRC) are scarcely reported in the literature. ...
  • De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies 
    Holt, Richard J.; Young, Rodrigo M.; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J.; Bellacchio, Emanuele; Bax, Dorine A.; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R.; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B.; Mohammed, Alaa Afif; Clokie, Samuel J.H.; Zazo Seco, Celia; Jiang, Yong Hui; Sørensen, Kristina P.; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D.; Wilson, Stephen W.; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K. (Cell Press, 2019-09-05)
    The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals ...
  • Risk prediction tools in cardiovascular disease prevention: A report from the ESC Prevention of CVD Programme led by the European Association of Preventive Cardiology (EAPC) in collaboration with the Acute Cardiovascular Care Association (ACCA) and the Association of Cardiovascular Nursing and Allied Professions (ACNAP) 
    Rossello, Xavier; Dorresteijn, Jannick A.N.; Janssen, Arne; Lambrinou, Ekaterini; Scherrenberg, Martijn; Bonnefoy-Cudraz, Eric; Cobain, Mark; Piepoli, Massimo F.; Visseren, Frank L.J.; Dendale, Paul (24150509, 2020-08)
    Risk assessment and risk prediction have become essential in the prevention of cardiovascular disease. Even though risk prediction tools are recommended in the European guidelines, they are not adequately implemented in ...
  • Neurocognitive changes after awake surgery in glioma patients: a retrospective cohort study 
    van Kessel, Emma; Snijders, Tom J; Baumfalk, Anniek E; Ruis, Carla; van Baarsen, Kirsten M; Broekman, Marike L; van Zandvoort, Martine J E; Robe, Pierre A (Kluwer Academic Publishers, 2020-01-01)
    PURPOSE: Deficits in neurocognitive functioning (NCF) frequently occur in glioma patients. Both treatment and the tumor itself contribute to these deficits. In order to minimize the harmful effects of surgery, an increasing ...
  • Reticulated Platelets as Predictor of Myocardial Injury and 30 Day Mortality After Non-cardiac Surgery 
    Meershoek, Armelle J A; Leunissen, Tesse C; van Waes, Judith A R; Klei, Wilton A; Huisman, Albert; de Groot, Mark C H; Hoefer, Imo E; van Solinge, Wouter W; Moll, Frans L; de Borst, Gert J (W.B. Saunders Ltd, 2020-02)
    Objective: A pre-operative marker for identification of patients at risk of peri-operative adverse events and 30 day mortality might be the percentage of young, reticulated platelets (pRP). This study aimed to determine ...
  • Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability 
    Li, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E; Breen, Catherine; Oegema, Renske; Weiss, Marjan Mm; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A; Boon, Elles Mj; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T; Scarano, Maria; Schaefer, G Bradley; Brooks, Susan S; Hughes, Susan Starling; van Gassen, K L I; van Hagen, Johanna M; Pandita, Tej K; Agrawal, Pankaj B; Campeau, Philippe M; Yang, Xiang-Jiao (American Society for Clinical Investigation, 2020-03-02)
    Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical ...
  • Flow cytometric mepacrine fluorescence can be used for the exclusion of platelet dense granule deficiency 
    van Asten, Ivar; Blaauwgeers, Maaike; Granneman, Lianne; Heijnen, Harry F G; Kruip, Marieke J H A; Beckers, Erik A M; Coppens, Michiel; Eikenboom, Jeroen; Tamminga, Rienk Y J; Pasterkamp, Gerard; Huisman, Albert; van Galen, Karin P M; Korporaal, Suzanne J A; Schutgens, Roger E G; Urbanus, Rolf T (Wiley-Blackwell, 2020-03)
    BACKGROUND: δ-storage pool disease (δ-SPD) is a bleeding disorder characterized by a reduced number of platelet-dense granules. The diagnosis of δ-SPD depends on the measurement of platelet ADP content, but this test is ...
  • Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders 
    Bipolar Disorder Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (Springer Nature, 2021-04)
    Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) ...
  • Renal cell carcinoma in young FH mutation carriers: case series and review of the literature 
    Hol, J A; Jongmans, M C J; Littooij, A S; de Krijger, R R; Kuiper, R P; van Harssel, J J T; Mensenkamp, A; Simons, M; Tytgat, G A M; van den Heuvel-Eibrink, M M; van Grotel, M (Springer Netherlands, 2020-01)
    Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine ...
  • Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism 
    Lezzerini, Marco; Penzo, Marianna; O'Donohue, Marie-Françoise; Marques Dos Santos Vieira, Carolina; Saby, Manon; Elfrink, Hyung L; Diets, Illja J; Hesse, Anne-Marie; Couté, Yohann; Gastou, Marc; Nin-Velez, Alexandra; Nikkels, Peter G J; Olson, Alexandra N; Zonneveld-Huijssoon, Evelien; Jongmans, Marjolijn C J; Zhang, GuangJun; van Weeghel, Michel; Houtkooper, Riekelt H; Wlodarski, Marcin W; Kuiper, Roland P; Bierings, Marc B; van der Werff Ten Bosch, Jutte; Leblanc, Thierry; Montanaro, Lorenzo; Dinman, Jonathan D; Da Costa, Lydie; Gleizes, Pierre-Emmanuel; MacInnes, Alyson W (Oxford University Press, 2020-01-24)
    Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a ...
  • Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation 
    van den Broek, Brigitte T A; van Egmond-Ebbeling, Michelle B; Achterberg, Jens A; Boelens, Jaap Jan; Vlessert, Isa C; Prinsen, Hubertus C M T; van Doorn, Jaap; van Hasselt, Peter M (Elsevier, 2020-05)
    Corneal clouding, causing visual impairment, is seen in nearly all patients with mucopolysaccharidosis type 1 (MPS-1). Hematopoietic cell transplantation (HCT) is able to stabilize disease in many organs. Residual disease ...
  • Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders 
    Haijes, Hanneke A.; Jaeken, Jaak; van Hasselt, Peter M. (Springer Netherlands, 2020-07-01)
    In the rapidly growing group of rare genetic disorders, data scarcity demands an intelligible use of available data, in order to improve understanding of underlying pathophysiology. We hypothesize, based on the principle ...
  • The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects 
    Blaauwgeers, Maaike W.; van Asten, Ivar; Kruip, Marieke J.H.A.; Beckers, Erik A.M.; Coppens, Michiel; Eikenboom, Jeroen; van Galen, Karin P.M.; Huisman, Albert; Korporaal, Suzanne J.A.; Ploos van Amstel, Hans Kristian; Tamminga, Rienk Y.J.; Urbanus, Rolf T.; Schutgens, Roger E.G. (John Wiley & Sons Inc., 2020-01-01)
  • Decreased native renal T1 up to one week after gadobutrol administration in healthy volunteers 
    de Boer, Anneloes; Harteveld, Anita A.; Pieters, Tobias T.; Blankestijn, Peter J.; Bos, Clemens; Froeling, Martijn; Joles, Jaap A.; Verhaar, Marianne C.; Leiner, Tim; Hoogduin, Hans (John Wiley & Sons Inc., 2020-08-01)
    Background: Gadolinium-based contrast agents (GBCAs) are widely used in MRI, despite safety concerns regarding deposition in brain and other organs. In animal studies gadolinium was detected for weeks after administration ...
  • Uptake and detection rate of a stepwise cardiometabolic disease detection program in primary care - A cohort study 
    Stol, Daphne M.; Stol, Daphne M.; Hollander, Monika; Badenbroek, Ilse F.; Badenbroek, Ilse F.; Nielen, Mark M.J.; Schellevis, François G.; Schellevis, François G.; De Wit, Niek J. (Oxford University Press, 2020-06-01)
    Background: Early detection and treatment of cardiometabolic diseases (CMD) in high-risk patients is a promising preventive strategy to anticipate the increasing burden of CMD. The Dutch guideline 'the prevention consultation' ...
  • Molecular genetic overlap between posttraumatic stress disorder and sleep phenotypes 
    Lind, Mackenzie J; Brick, Leslie A; Gehrman, Philip R; Duncan, Laramie E; Gelaye, Bizu; Maihofer, Adam X; Nievergelt, Caroline M; Nugent, Nicole R; Stein, Murray B; Amstadter, Ananda B; Psychiatric Genomics Consortium Posttraumatic Stress Disorder (Oxford University Press, 2020-04-01)
    STUDY OBJECTIVES: Sleep problems are common, serving as both a predictor and symptom of posttraumatic stress disorder (PTSD), with these bidirectional relationships well established in the literature. While both sleep ...