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UMC Repository: Recent submissions

  • Nutri-Score 2023 update 
    Merz, Benedikt; Temme, Elisabeth; Alexiou, Hélène; Beulens, Joline Wilhelma Johanna; Buyken, Anette Elisabeth; Bohn, Torsten; Ducrot, Pauline; Falquet, Marie Noëlle; Solano, Marta García; Haidar, Hanna; Infanger, Esther; Kühnelt, Charlotte; Rodríguez-Artalejo, Fernando; Sarda, Barthélémy; Steenbergen, Elly; Vandevijvere, Stefanie; Julia, Chantal (2024-02)
    In 2023, the algorithm underlying the Nutri-Score front-of-pack label was updated to better align with food-based dietary guidelines (FBDGs) across countries engaged in the system. On the basis of a comparison of FBDGs and ...
  • Validation of resting full-cycle ratio and diastolic pressure ratio with [15O]H2O positron emission tomography myocardial perfusion 
    Dahdal, Jorge; Bakker, Frank; Svanerud, Johan; Danad, Ibrahim; Driessen, Roel S.; Raijmakers, Pieter G.; Harms, Hendrik J.; Lammertsma, Adriaan A.; van de Hoef, Tim P.; Appelman, Yolande; van Royen, Niels; Knaapen, Paul; de Waard, Guus A. (Springer Japan, 2024-04)
    Fractional flow reserve (FFR) and instantaneous wave-free ratio (iFR) are invasive techniques used to evaluate the hemodynamic significance of coronary artery stenosis. These methods have been validated through perfusion ...
  • Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases 
    Kerkhof, Jennifer; Rastin, Cassandra; Levy, Michael A.; Relator, Raissa; McConkey, Haley; Demain, Leigh; Dominguez-Garrido, Elena; Kaat, Laura Donker; Houge, Sofia Douzgou; DuPont, Barbara R.; Fee, Timothy; Fletcher, Robin S.; Gokhale, David; Haukanes, Bjørn Ivar; Henneman, Peter; Hilton, Sarah; Hilton, Benjamin A.; Jenkinson, Sarah; Lee, Jennifer A.; Louie, Raymond J.; Motazacker, M. Mahdi; Rzasa, Jessica; Stevenson, Roger E.; Plomp, Astrid; van der Laan, Liselot; van der Smagt, Jasper; Walden, Kellie K.; Banka, Siddharth; Mannens, Marcel; Skinner, Steven A.; Friez, Michael J.; Campbell, Christopher; Tedder, Matthew L.; Alders, Marielle; Sadikovic, Bekim (Lippincott Williams & Wilkins, 2024-05)
    Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical Testing ...
  • Term and definition of a deformity after a spine trauma: Results of an international Delphi study 
    De Gendt, E. E.A.; Muijs, S. P.J.; Benneker, L. M.; Oner, F. C. (Elsevier, 2024-01)
    Introduction: Deformity of the spinal column after trauma could lead to pain, impaired function, and may sometimes necessitate extensive and high-risk surgery. This ‘condition’ has multiple terms and definitions that are ...
  • Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials 
    den Hollander, Bibiche; Rothuizen-Lindenschot, Marieke; Geertjens, Lisa; Vaz, Frédéric M.; Brands, Marion M.; Le, Hoang Lan; van Eeghen, Agnies M.; van de Ven, Peter M.; Cornel, Martina C.; Jacobs, Bart A.W.; Bruining, Hilgo; van Karnebeek, Clara D. (Elsevier, 2023-12)
    Rationale: Loss-of-function (LoF) mutations in GRIN2B result in neurologic abnormalities due to N-methyl-D-aspartate receptor (NMDAR) dysfunction. Affected persons present with various symptoms, including intellectual ...
  • Corrigendum to “Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233)) 
    Hollander, Bibiche den; Rothuizen-Lindenschot, Marieke; Geertjens, Lisa; Vaz, Frédéric M.; Brands, Marion M.; Le, Hoang Lan; van Eeghen, Agnies M.; van de Ven, Peter M.; Cornel, Martina C.; Jacobs, Bart A.W.; Bruining, Hilgo; van Karnebeek, Clara D. (Elsevier, 2024-04)
    The authors regret the need for the following corrigendum: In table 1, the amino acid change for the patient is listed incorrectly. It should be p.(Arg696Leu) instead of p.(Arg820Leu). The authors would like to apologise ...
  • Surveillance After Surgical and Endovascular Treatment for Peripheral Artery Disease: a Dutch Survey 
    Hoitz, Nathalie; Kraima, Annelot; Fioole, Bram; Mees, Barend; de Borst, Gert J.; Ünlü, Çağdaş (W.B. Saunders Ltd, 2024-06)
    Objective: At present, there is no clear, optimal approach to surveillance after invasive treatment of peripheral artery disease (PAD) in terms of modality, duration, clinical benefit, and cost effectiveness. The ongoing ...
  • Pathological findings associated with the updated European Society of Cardiology 2022 guidelines for preoperative cardiac testing: an observational cohort modelling study 
    Stroda, Alexandra; Mauermann, Eckhard; Ionescu, Daniela; Szczeklik, Wojciech; De Hert, Stefan; Filipovic, Miodrag; Beck Schimmer, Beatrice; Spadaro, Savino; Matute, Purificación; Ganter, Michael T.; Ovezov, Alexey; Turhan, Sanem C.; van Waes, Judith; Lagarto, Filipa; Theodoraki, Kassiani; Gupta, Anil; Gillmann, Hans Jörg; Guzzetti, Luca; Kotfis, Katarzyna; Larmann, Jan; Corneci, Dan; Buggy, Donal J.; Howell, Simon J.; Lurati Buse, Giovanna; the MET-REPAIR investigators (Oxford University Press, 2024-04)
    Background: In 2022, the European Society of Cardiology updated guidelines for preoperative evaluation. The aims of this study were to quantify: (1) the impact of the updated recommendations on the yield of pathological ...
  • EXO1 protects BRCA1-deficient cells against toxic DNA lesions 
    van de Kooij, Bert; Schreuder, Anne; Pavani, Raphael; Garzero, Veronica; Uruci, Sidrit; Wendel, Tiemen J.; van Hoeck, Arne; San Martin Alonso, Marta; Everts, Marieke; Koerse, Dana; Callen, Elsa; Boom, Jasper; Mei, Hailiang; Cuppen, Edwin; Luijsterburg, Martijn S.; van Vugt, Marcel A.T.M.; Nussenzweig, André; van Attikum, Haico; Noordermeer, Sylvie M. (Cell Press, 2024-02-15)
    Inactivating mutations in the BRCA1 and BRCA2 genes impair DNA double-strand break (DSB) repair by homologous recombination (HR), leading to chromosomal instability and cancer. Importantly, BRCA1/2 deficiency also causes ...
  • Catheter Ablation for Ventricular Tachycardia in Patients With Desmoplakin Cardiomyopathy 
    Gasperetti, Alessio; Peretto, Giovanni; Muller, Steven A.; Hasegawa, Kanae; Compagnucci, Paolo; Casella, Michela; Murray, Brittney; Tichnell, Crystal; Carrick, Richard T.; Cadrin-Tourigny, Julia; Schiavone, Marco; James, Cynthia; Amin, Ahmad S.; Saguner, Ardan M.; Dello Russo, Antonio; Tondo, Claudio; Stevenson, William; Della Bella, Paolo; Calkins, Hugh; Tandri, Harikrishna (Elsevier USA, 2024-03)
    Background: Desmoplakin (DSP) pathogenic/likely pathogenic (P/LP) variants are associated with malignant phenotypes of arrhythmogenic cardiomyopathy (DSP-ACM). Reports of outcomes after ventricular tachycardia (VT) ablation ...
  • Validating and constructing behavioral models for simulation and projection using automated knowledge extraction 
    Sonnenschein, Tabea S.; de Wit, G. Ardine; den Braver, Nicolette R.; Vermeulen, Roel C.H.; Scheider, Simon (2024-03)
    Human behavior may be one of the most challenging phenomena to model and validate. This paper proposes a method for automatically extracting and compiling evidence on human behavior determinants into a knowledge graph. The ...
  • Metrics reloaded: recommendations for image analysis validation 
    Maier-Hein, Lena; Reinke, Annika; Godau, Patrick; Tizabi, Minu D.; Buettner, Florian; Christodoulou, Evangelia; Glocker, Ben; Isensee, Fabian; Kleesiek, Jens; Kozubek, Michal; Reyes, Mauricio; Riegler, Michael A.; Wiesenfarth, Manuel; Kavur, A. Emre; Sudre, Carole H.; Baumgartner, Michael; Eisenmann, Matthias; Heckmann-Nötzel, Doreen; Rädsch, Tim; Acion, Laura; Antonelli, Michela; Arbel, Tal; Bakas, Spyridon; Benis, Arriel; Blaschko, Matthew B.; Cardoso, M. Jorge; Cheplygina, Veronika; Cimini, Beth A.; Collins, Gary S.; Farahani, Keyvan; Ferrer, Luciana; Galdran, Adrian; van Ginneken, Bram; Haase, Robert; Hashimoto, Daniel A.; Hoffman, Michael M.; Huisman, Merel; Jannin, Pierre; Kahn, Charles E.; Kainmueller, Dagmar; Kainz, Bernhard; Karargyris, Alexandros; Karthikesalingam, Alan; Kofler, Florian; Kopp-Schneider, Annette; Kreshuk, Anna; Kurc, Tahsin; Landman, Bennett A.; Litjens, Geert; Madani, Amin; Maier-Hein, Klaus; Martel, Anne L.; Mattson, Peter; Meijering, Erik; Menze, Bjoern; Moons, Karel G.M.; Müller, Henning; Nichyporuk, Brennan; Nickel, Felix; Petersen, Jens; Rajpoot, Nasir; Rieke, Nicola; Saez-Rodriguez, Julio; Sánchez, Clara I.; Shetty, Shravya; van Smeden, Maarten; Summers, Ronald M.; Taha, Abdel A.; Tiulpin, Aleksei; Tsaftaris, Sotirios A.; Van Calster, Ben; Varoquaux, Gaël; Jäger, Paul F. (Nature Publishing Group, 2024-02)
    Increasing evidence shows that flaws in machine learning (ML) algorithm validation are an underestimated global problem. In biomedical image analysis, chosen performance metrics often do not reflect the domain interest, ...
  • Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation 
    Kaya, Merve; Post, Cathalijne C.B.; Tops, Carli M.; Nielsen, Maartje; Crosbie, Emma J.; Leary, Alexandra; Mileshkin, Linda R.; Han, Kathy; Bessette, Paul; de Boer, Stephanie M.; Jürgenliemk-Schulz, Ina M.; Lutgens, Ludy; Jobsen, Jan J.; Haverkort, Marie A.D.; Nout, Remi A.; Kroep, Judith; Creutzberg, Carien L.; Smit, Vincent T.H.B.M.; Horeweg, Nanda; van Wezel, Tom; Bosse, Tjalling (Nature Publishing Group, 2024-03)
    Universal tumor screening in endometrial carcinoma (EC) is increasingly adopted to identify individuals at risk of Lynch syndrome (LS). These cases involve mismatch repair-deficient (MMRd) EC without MLH1 promoter ...
  • Causes of infectious pediatric uveitis: A review 
    Ngathaweesuk, Yaninsiri; Hendrikse, Jytte; Groot-Mijnes, Jolanda Dorothea Francisca de; de Boer, Joke Helena; Hettinga, Ymkje Marije (Elsevier USA, 2024-05-01)
    Infectious pediatric uveitis is a rare disease that can cause severe ocular damage if not detected rapidly and treated properly. Additionally, early identification of an infection can protect the child from life-threatening ...
  • Histopathological risk stratification of pT1 colorectal cancer: novel insights into established risk factors 
    van der Schee, Lisa; Laclé, Miangela M. (Elsevier, 2024-04)
    The proportion of submucosal invasive (pT1) colorectal cancer (CRC) diagnoses has increased substantially since the introduction of CRC screening programmes. A distinct attribute of pT1 CRCs is that they can be potentially ...
  • Surgeon reported treatment choices for AO type B and C thoracolumbar fractures without neurological deficits: An expert survey 
    Kitzen, J.; Bakker, W. M.; Jacobs, E.; Kuijper, M. T.; Öner, F. C. (Elsevier, 2024-03)
    Introduction: Less invasive spine surgery (LISS) has become well-established for thoracolumbar burst fractures without neurological deficits. However, notable controversy persists regarding the adequacy of LISS for more ...
  • What makes a medical intervention invasive? A reply to commentaries 
    De Marco, Gabriel; Simons, Jannieke; Forsberg, Lisa; Douglas, Thomas (BMJ Publishing Group, 2024-03-20)
  • Health Care Professionals’ Experiences With a Mobile Self-Care Solution for Low Complex Orthopedic Injuries: Mixed Methods Study 
    Spierings, Jelle; Willinge, Gijs; Kokke, Marike; Twigt, Bas; de Lange, Wendela; Geerdink, Thijs; van der Velde, Detlef; Repping, Sjoerd; Goslings, Carel (Journal of medical Internet Research, 2024-02-02)
    Background: To cope with the rising number of patients with trauma in an already constrained Dutch health care system, Direct Discharge (DD) has been introduced in over 25 hospitals in the Netherlands since 2019. With DD, ...
  • The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy 
    Groeschel, Samuel; Beerepoot, Shanice; Amedick, Lucas Bastian; Krӓgeloh-Mann, Ingeborg; Li, Jing; Whiteman, David A.H.; Wolf, Nicole I.; Port, John D. (Springer Netherlands, 2024-07)
    This study aimed to evaluate the effect of intrathecal (IT) recombinant human arylsulfatase A (rhASA) on magnetic resonance imaging (MRI)-assessed brain tissue changes in children with metachromatic leukodystrophy (MLD). ...
  • Small cell osteosarcoma versus fusion-driven round cell sarcomas of bone: retrospective clinical, radiological, pathological, and (epi)genetic comparison with clinical implications 
    Hiemcke-Jiwa, Laura S.; Sumathi, Vaiyapuri P.; Baumhoer, Daniel; Smetsers, Stephanie E.; Haveman, Lianne M.; van Noesel, Max M.; van Langevelde, Kirsten; Cleven, Arjen H.G.; van de Sande, Michiel A.J.; ter Horst, Simone A.J.; Kester, Lennart A.; Flucke, Uta (Springer-Verlag, 2024-03)
    Small cell osteosarcoma (SCOS), a variant of conventional high-grade osteosarcoma (COS), may mimic fusion-driven round cell sarcomas (FDRCS) by overlapping clinico-radiological and histomorphological/immunohistochemical ...