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UMC Repository: Recent submissions

  • A machine learning approach to explore predictors of graft detachment following posterior lamellar keratoplasty: a nationwide registry study 
    The Netherlands Corneal Transplant Network (NCTN) (Nature Publishing Group, 2022-10-21)
    Machine learning can be used to explore the complex multifactorial patterns underlying postsurgical graft detachment after endothelial corneal transplantation surgery and to evaluate the marginal effect of various practice ...
  • Trial-based cost-effectiveness analysis of Descemet membrane endothelial keratoplasty (DMEK) versus ultrathin Descemet stripping automated endothelial keratoplasty (UT-DSAEK) 
    the DMEK versus DSAEK Study Group (Wiley-Blackwell, 2023-05)
    Purpose: To evaluate the cost-effectiveness of Descemet Membrane Endothelial Keratoplasy (DMEK) versus Ultrathin Descemet Stripping Automated Endothelial Keratoplasty (UT-DSAEK). Methods: A cost-effectiveness analysis using ...
  • A Guide to Direct (Peri)ocular Injuries Caused by Snakes: Systematic Review and Treatment Advice 
    Jalink, Maarten B.; Wisse, Robert P.L. (American Society of Tropical Medicine and Hygiene, 2022-11-14)
    Ocular injuries caused by snakes are very rare, but damage can be severe. There is little evidence on the effective treatment of these injuries. The aim of this systematic review is to discuss all available literature and ...
  • Automatic evaluation of graft orientation during Descemet membrane endothelial keratoplasty using intraoperative OCT 
    Muijzer, Marc B.; Heslinga, Friso G.; Couwenberg, Floor; Noordmans, Herke Jan; Oahalou, Abdelkarim; Pluim, Josien P.W.; Veta, Mitko; Wisse, Robert P.L. (The Optical Society, 2022-05-01)
    Correct Descemet Membrane Endothelial Keratoplasty (DMEK) graft orientation is imperative for success of DMEK surgery, but intraoperative evaluation can be challenging. We present a method for automatic evaluation of the ...
  • LVNet: Lightweight Model for Left Ventricle Segmentation for Short Axis Views in Echocardiographic Imaging 
    Awasthi, Navchetan; Vermeer, Lars; Fixsen, Louis S.; Lopata, Richard G.P.; Pluim, Josien P.W. (Institute of Electrical and Electronics Engineers Inc., 2022-06-01)
    Lightweight segmentation models are becoming more popular for fast diagnosis on small and low cost medical imaging devices. This study focuses on the segmentation of the left ventricle (LV) in cardiac ultrasound (US) images. ...
  • Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile. 
    Rimbert, Antoine; Yeung, Ming W; Dalila, Nawar; Thio, Chris H L; Yu, Haojie; Loaiza, Natalia; Oldoni, Federico; van der Graaf, Adriaan; Wang, Siqi; Said, M Abdullah; Blauw, Lisanne L; Girardeau, Aurore; Bray, Lise; Caillaud, Amandine; Bloks, Vincent W; Marrec, Marie; Moulin, Philippe; Rensen, Patrick C N; van de Sluis, Bart; Snieder, Harold; Di Filippo, Mathilde; van der Harst, Pim; Tybjaerg-Hansen, Anne; Zimmerman, Philip; Cariou, Bertrand; Kuivenhoven, Jan Albert (Lippincott Williams & Wilkins, 2022-10)
    BACKGROUND: In mice, GPR146 (G-protein-coupled receptor 146) deficiency reduces plasma lipids and protects against atherosclerosis. Whether these findings translate to humans is unknown. METHODS: Common and rare genetic ...
  • Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways 
    Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, ThuyVy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; Salman, Reem; Noordam, Raymond; Benjamins, Jan-Walter; Haessler, Jeffrey; Lyytikäinen, Leo-Pekka; Repetto, Linda; Concas, Maria Pina; van den Berg, Marten E; Weiss, Stefan; Baldassari, Antoine R; Bartz, Traci M; Cook, James P; Evans, Daniel S; Freudling, Rebecca; Hines, Oliver; Isaksen, Jonas L; Lin, Honghuang; Mei, Hao; Moscati, Arden; Müller-Nurasyid, Martina; Nursyifa, Casia; Qian, Yong; Richmond, Anne; Roselli, Carolina; Ryan, Kathleen A; Tarazona-Santos, Eduardo; Thériault, Sébastien; van Duijvenboden, Stefan; Warren, Helen R; Yao, Jie; Raza, Dania; Aeschbacher, Stefanie; Ahlberg, Gustav; Alonso, Alvaro; Andreasen, Laura; Bis, Joshua C; Boerwinkle, Eric; Campbell, Archie; Catamo, Eulalia; Cocca, Massimiliano; Cutler, Michael J; Darbar, Dawood; De Grandi, Alessandro; De Luca, Antonio; Ding, Jun; Ellervik, Christina; Ellinor, Patrick T; Felix, Stephan B; Froguel, Philippe; Fuchsberger, Christian; Gögele, Martin; Graff, Claus; Graff, Mariaelisa; Guo, Xiuqing; Hansen, Torben; Heckbert, Susan R; Huang, Paul L; Huikuri, Heikki V; Hutri-Kähönen, Nina; Ikram, M Arfan; Jackson, Rebecca D; Junttila, Juhani; Kavousi, Maryam; Kors, Jan A; Leal, Thiago P; Lemaitre, Rozenn N; Lin, Henry J; Lind, Lars; Linneberg, Allan; Liu, Simin; MacFarlane, Peter W; Mangino, Massimo; Meitinger, Thomas; Mezzavilla, Massimo; Mishra, Pashupati P; Mitchell, Rebecca N; Mononen, Nina; Montasser, May E; Morrison, Alanna C; Nauck, Matthias; Nauffal, Victor; Navarro, Pau; Nikus, Kjell; Pare, Guillaume; Patton, Kristen K; Pelliccione, Giulia; Pittman, Alan; Porteous, David J; Pramstaller, Peter P; Preuss, Michael H; Raitakari, Olli T; Reiner, Alexander P; Ribeiro, Antonio Luiz P; Rice, Kenneth M; Risch, Lorenz; Schlessinger, David; Schotten, Ulrich; Schurmann, Claudia; Shen, Xia; Shoemaker, M Benjamin; Sinagra, Gianfranco; Sinner, Moritz F; Soliman, Elsayed Z; Stoll, Monika; Strauch, Konstantin; Tarasov, Kirill; Taylor, Kent D; Tinker, Andrew; Trompet, Stella; Uitterlinden, André; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Weng, Lu-Chen; Whitsel, Eric A; Wilson, James G; Avery, Christy L; Conen, David; Correa, Adolfo; Cucca, Francesco; Dörr, Marcus; Gharib, Sina A; Girotto, Giorgia; Grarup, Niels; Hayward, Caroline; Jamshidi, Yalda; Järvelin, Marjo-Riitta; Jukema, J Wouter; Kääb, Stefan; Kähönen, Mika; Kanters, Jørgen K; Kooperberg, Charles; Lehtimäki, Terho; Lima-Costa, Maria Fernanda; Liu, Yongmei; Loos, Ruth J F; Lubitz, Steven A; Mook-Kanamori, Dennis O; Morris, Andrew P; O'Connell, Jeffrey R; Olesen, Morten Salling; Orini, Michele; Padmanabhan, Sandosh; Pattaro, Cristian; Peters, Annette; Psaty, Bruce M; Rotter, Jerome I; Stricker, Bruno; van der Harst, Pim; van Duijn, Cornelia M; Verweij, Niek; Wilson, James F; Arking, Dan E; Ramirez, Julia; Lambiase, Pier D; Sotoodehnia, Nona; Mifsud, Borbala; Newton-Cheh, Christopher; Munroe, Patricia B (Nature Publishing Group, 2022-09-01)
    The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated ...
  • Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies 
    Harlow, Charli E; Gandawijaya, Josan; Bamford, Rosemary A; Martin, Emily-Rose; Wood, Andrew R; van der Most, Peter J; Tanaka, Toshiko; Leonard, Hampton L; Etheridge, Amy S; Innocenti, Federico; Beaumont, Robin N; Tyrrell, Jessica; Nalls, Mike A; Simonsick, Eleanor M; Garimella, Pranav S; Shiroma, Eric J; Verweij, Niek; van der Meer, Peter; Gansevoort, Ron T; Snieder, Harold; Gallins, Paul J; Jima, Dereje D; Wright, Fred; Zhou, Yi-Hui; Ferrucci, Luigi; Bandinelli, Stefania; Hernandez, Dena G; van der Harst, Pim; Patel, Vickas V; Waterworth, Dawn M; Chu, Audrey Y; Oguro-Ando, Asami; Frayling, Timothy M (Cell Press, 2022-09-01)
    Hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHIs) are currently under clinical development for treating anemia in chronic kidney disease (CKD), but it is important to monitor their cardiovascular safety. ...
  • A saturated map of common genetic variants associated with human height 
    23andMe Research Team (Nature Research, 2022-10-27)
    Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes ...
  • Pre-screening to guide coronary artery calcium scoring for early identification of high-risk individuals in the general population 
    Ties, Daan; van der Ende, Yldau M; Pundziute, Gabija; van der Schouw, Yvonne T; Bots, Michiel L; Xia, Congying; van Ooijen, Peter M A; Pelgrim, Gert Jan; Vliegenthart, Rozemarijn; van der Harst, Pim (Oxford University Press, 2023-01-01)
    AIMS: To evaluate the ability of Systematic COronary Risk Estimation 2 (SCORE2) and other pre-screening methods to identify individuals with high coronary artery calcium score (CACS) in the general population. METHODS AND ...
  • Clonal haematopoiesis of indeterminate potential: associations with heart failure incidence, clinical parameters and biomarkers 
    Shi, Canxia; Aboumsallem, Joseph Pierre; Suthahar, Navin; de Graaf, Aniek O; Jansen, Joop H; van Zeventer, Isabelle A; Bracun, Valentina; de Wit, Sanne; Screever, Elles M; van den Berg, Pieter F; Meijers, Wouter C; Gansevoort, Ron T; Bakker, Stephan J L; van der Harst, Pim; Silljé, Herman H W; Huls, Gerwin; de Boer, Rudolf A (Oxford University Press, 2023-01)
    AIM: We aimed to analyse the association of clonal haematopoiesis of indeterminate potential (CHIP) with incident heart failure (HF) in a European population cohort. METHODS AND RESULTS: From the prospective Prevention of ...
  • ukbpheno v1.0: An R package for phenotyping health-related outcomes in the UK Biobank 
    Yeung, Ming Wai; van der Harst, Pim; Verweij, Niek (Cell Press, 2022-09-16)
    The complexity and volume of data associated with population-based cohorts means that generating health-related outcomes can be challenging. Using one such cohort, the UK Biobank-a major open access resource-we present a ...
  • KBTBD13 is a novel cardiomyopathy gene 
    de Winter, Josine M; Bouman, Karlijn; Strom, Joshua; Methawasin, Mei; Jongbloed, Jan D H; van der Roest, Wilma; Wijngaarden, Jan van; Timmermans, Janneke; Nijveldt, Robin; van den Heuvel, Frederik; Kamsteeg, Erik-Jan; van Engelen, Baziel G; Galli, Ricardo; Bogaards, Sylvia J P; Boon, Reinier A; van der Pijl, Robbert J; Granzier, Henk; Koeleman, Bobby; Amin, Ahmad S; van der Velden, Jolanda; van Tintelen, J Peter; van den Berg, Maarten P; van Spaendonck-Zwarts, Karin Y; Voermans, Nicol C; Ottenheijm, Coen A C (John Wiley & Sons Inc., 2022-12)
    KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac ...
  • Identification of storage conditions stabilizing extracellular vesicles preparations 
    Görgens, André; Corso, Giulia; Hagey, Daniel W.; Jawad Wiklander, Rim; Gustafsson, Manuela O.; Felldin, Ulrika; Lee, Yi; Bostancioglu, R. Beklem; Sork, Helena; Liang, Xiuming; Zheng, Wenyi; Mohammad, Dara K.; van de Wakker, Simonides I.; Vader, Pieter; Zickler, Antje M.; Mamand, Doste R.; Ma, Li; Holme, Margaret N.; Stevens, Molly M.; Wiklander, Oscar P.B.; EL Andaloussi, Samir (John Wiley & Sons Inc., 2022-06)
    Extracellular vesicles (EVs) play a key role in many physiological and pathophysiological processes and hold great potential for therapeutic and diagnostic use. Despite significant advances within the last decade, the key ...
  • Surface-based tracking for short association fibre tractography 
    Shastin, Dmitri; Genc, Sila; Parker, Greg D.; Koller, Kristin; Tax, Chantal M.W.; Evans, John; Hamandi, Khalid; Gray, William P.; Jones, Derek K.; Chamberland, Maxime (Academic Press Inc., 2022-10-15)
    It is estimated that in the human brain, short association fibres (SAF) represent more than half of the total white matter volume and their involvement has been implicated in a range of neurological and psychiatric conditions. ...
  • Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings 
    MacIver, Claire L.; Tax, Chantal M.W.; Jones, Derek K.; Peall, Kathryn J. (Wiley-Blackwell, 2022-11)
    Background and purpose: Structural magnetic resonance techniques have been widely applied in neurological disorders to better understand tissue changes, probing characteristics such as volume, iron deposition and diffusion. ...
  • Development and validation of a multivariable prediction model for the early prediction of chronic postsurgical pain. Response to Br J Anaesth 2022; 129 
    van Driel, Marjelle; Huygen, Frank; Rijsdijk, Mienke (Oxford University Press, 2023-02)
  • Laparoscopic peritoneal lavage versus sigmoidectomy for perforated diverticulitis with purulent peritonitis: three-year follow-up of the randomised LOLA trial 
    The LADIES trial collaborators (Springer New York, 2022-10)
    BACKGROUND: This study aimed to compare laparoscopic lavage and sigmoidectomy as treatment for perforated diverticulitis with purulent peritonitis during a 36 month follow-up of the LOLA trial. METHODS: Within the LOLA arm ...
  • Invited Commentary: Overall Survival in Patients with Stage IV Pan-NET Eligible for Liver Transplantation 
    Borel Rinkes, Inne H.M. (Springer New York, 2023-02)
  • The FES Gene at the 15q26 Coronary-Artery-Disease Locus Inhibits Atherosclerosis. 
    Karamanavi, Elisavet; McVey, David G; van der Laan, Sander W; Stanczyk, Paulina J; Morris, Gavin E; Wang, Yifan; Yang, Wei; Chan, Kenneth; Poston, Robin N; Luo, Jun; Zhou, Xinmiao; Gong, Peng; Jones, Peter D; Cao, Junjun; Kostogrys, Renata B; Webb, Tom R; Pasterkamp, Gerard; Yu, Haojie; Xiao, Qingzhong; Greer, Peter A; Stringer, Emma J; Samani, Nilesh J; Ye, Shu (Lippincott Williams & Wilkins, 2022-12-02)
    BACKGROUND: Genome-wide association studies have discovered a link between genetic variants on human chromosome 15q26.1 and increased coronary artery disease (CAD) susceptibility; however, the underlying pathobiological ...