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UMC Repository: Recent submissions

  • Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations 
    Weijers, Dilys D.; Hirsch, Steffen; Bakhuizen, Jette J.; van Engelen, Nienke; Kester, Lennart A.; Kranendonk, Mariëtte E.G.; Hiemcke-Jiwa, Laura S.; de Vos-Kerkhof, Evelien; Loeffen, Jan L.C.; Autry, Robert J.; Pajtler, Kristian W.; Jäger, Natalie; Jongmans, Marjolijn C.J.; Kuiper, Roland P. (John Wiley & Sons Inc., 2024-04-15)
    Lynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants in a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting ...
  • Healthcare utilization is increased in children living in urban areas, with ethnicity-related disparities: A big data analysis study 
    Ghanayem, Doaa; Kasem Ali Sliman, Rim; Schwartz, Naama; Cohen, Hilla; Shehadeh, Shereen; Hamad Saied, Mohamad; Pillar, Giora (Springer-Verlag, 2024-04)
    This study aimed to investigate differences in pediatric healthcare utilization in Israel over 10 years by examining differences across populations defined by living environment and ethnicity. Data was obtained from the ...
  • Decoding the meaning of medical guidelines and their medicolegal implications 
    Kranke, Peter; Afshari, Arash; Meybohm, Patrick; Buhre, Wolfgang; Wiege, Stephanie; Romero, Carolina S. (Lippincott Williams & Wilkins, 2024-02-01)
    Medical practice guidelines (MPGs) are important in medicine to ensure well tolerated and effective healthcare. They provide evidence-based recommendations for healthcare professionals in daily clinical settings. MPGs help ...
  • Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 
    Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G.M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Møller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange Line; Quelin, Chloé; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C.E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Mau-Them, Frederic Tran; Garcia Moya, Luis Fernandez; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B.A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon (American Society for Clinical Investigation, 2024-01-20)
    Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated ...
  • Dioxin(-like)-Related Biological Effects through Integrated Chemical-wide and Metabolome-wide Analyses 
    Zhao, Yujia; Meijer, Jeroen; Walker, Douglas I.; Kim, Juni; Portengen, Lützen; Jones, Dean P.; Saberi Hosnijeh, Fatemeh; Vlaanderen, Jelle; Vermeulen, Roel (American Chemical Society, 2024-01-09)
    Dioxin(-like) exposures are linked to adverse health effects, including cancer. However, metabolic alterations induced by these chemicals remain largely unknown. Beyond known dioxin(-like) compounds, we leveraged a ...
  • Assessing the Effects of One-Time Praziquantel Treatment on Urogenital Lesions Detected by Ultrasound in Schistosoma haematobium–Infected Individuals in Chad 
    Lalaye, Didier; de Jong, Tom P.V.M. (American Society of Tropical Medicine and Hygiene, 2024)
    The objective was to determine the impact of a single dose of praziquantel on urogenital lesions caused by Schistosoma haematobium. Ultrasound (US) was performed on three age groups of subjects with a positive test for ...
  • Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial 
    Ovchinsky, Nadia; Aumar, Madeleine; Baker, Alastair; Baumann, Ulrich; Bufler, Philip; Cananzi, Mara; Czubkowski, Piotr; Durmaz, Özlem; Fischer, Ryan; Indolfi, Giuseppe; Karnsakul, Wikrom W.; Lacaille, Florence; Lee, Way S.; Maggiore, Giuseppe; Rosenthal, Philip; Ruiz, Mathias; Sokal, Etienne; Sturm, Ekkehard; van der Woerd, Wendy; Verkade, Henkjan J.; Wehrman, Andrew; Clemson, Christine; Yu, Qifeng; Ni, Quanhong; Ruvido, Jessica; Manganaro, Susan; Mattsson, Jan P. (Elsevier Limited, 2024-07)
    Background: In patients with Alagille syndrome, cholestasis-associated clinical features can include high serum bile acids and severe pruritus that can necessitate liver transplantation. We aimed to evaluate the efficacy ...
  • Rare and severe adverse events in children with inflammatory bowel disease: analysis of data from the PIBD-SETQuality Safety Registry 
    van der Woerd, Wendy L.; PIBD-SETQuality Safety Registry collaborators (Elsevier, 2024-06)
    Background: Rare and severe adverse events can occur in children with inflammatory bowel disease (IBD), and the relationship with disease or drug treatment is often uncertain. We aimed to establish a method of reporting ...
  • NOX1 mediates metabolic heart disease in mice and is upregulated in monocytes of humans with diastolic dysfunction 
    Xu, Lifen; Balzarolo, Melania; Robinson, Emma L.; Lorenz, Vera; Della Verde, Giacomo; Joray, Lydia; Mochizuki, Michika; Kaufmann, Beat A.; Valstar, Gideon; De Jager, Saskia C.A.; Den Ruijter, Hester M.; Heymans, Stephane; Pfister, Otmar; Kuster, Gabriela M. (Oxford University Press, 2022-10-01)
    Aims: Microvascular inflammation plays an important role in the pathogenesis of diastolic dysfunction (DD) and metabolic heart disease. NOX1 is expressed in vascular and immune cells and has been implicated in the vascular ...
  • Multi-omics approach identifies PI3 as a biomarker for disease severity and hyper-keratinization in psoriasis 
    Deng, Jingwen; Leijten, Emmerik; Zhu, Yongzhan; Nordkamp, Michel Olde; Ye, Shuyan; Pouw, Juliëtte; Tao, Weiyang; Balak, Deepak; Zheng, Guangjuan; Radstake, Timothy; Han, Ling; Borghans, José A M; Lu, Chuanjian; Pandit, Aridaman (Elsevier Ireland Ltd, 2023-09)
    BACKGROUND: Psoriasis is an immune-mediated inflammatory skin disease. Psoriasis severity evaluation is important for clinicians in the assessment of disease severity and subsequent clinical decision making. However, no ...
  • GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update 
    Claus, Laura R.; Lekkerkerker, Iris; van der Zwaag, Bert; Nguyen, Tri Q.; Knoers, Nine V.A.M.; de Borst, Martin H.; Rookmaker, Maarten B.; Lilien, Marc R.; van Eerde, Albertien M. (2024-05)
    Background Clinical research on monogenic kidney disease (MKD) is thriving and the need for large cohorts, prospective data collection and biobanking is increasing. We aim to create a sustainable large MKD biobank with a ...
  • Baseline tumor-infiltrating lymphocyte patterns and response to immune checkpoint inhibition in metastatic cutaneous melanoma 
    van Duin, Isabella A.J.; Schuiveling, Mark; ter Maat, Laurens S.; van Amsterdam, Wouter A.C.; van den Berkmortel, Franchette; Boers-Sonderen, Marye; de Groot, Jan Willem B.; Hospers, Geke A.P.; Kapiteijn, Ellen; Labots, Mariette; Piersma, Djura; Schrader, Anne M.R.; Vreugdenhil, Gerard; Westgeest, Hans; Veta, Mitko; Blokx, Willeke A.M.; van Diest, Paul J.; Suijkerbuijk, Karijn P.M. (Elsevier Limited, 2024-09)
    Introduction: The presence of tumor-infiltrating lymphocytes (TILs) in melanoma has been linked to survival. Their predictive capability for immune checkpoint inhibition (ICI) response remains uncertain. Therefore, we ...
  • Comparison of the Response to an Electronic Versus a Traditional Informed Consent Procedure in Terms of Clinical Patient Characteristics: Observational Study 
    Zondag, Anna G M; Hollestelle, Marieke J; van der Graaf, Rieke; Nathoe, Hendrik M; van Solinge, Wouter W; Bots, Michiel L; Vernooij, Robin W M; Haitjema, Saskia; UCC CVRM study group (Journal of medical Internet Research, 2024-07-11)
    BACKGROUND: Electronic informed consent (eIC) is increasingly used in clinical research due to several benefits including increased enrollment and improved efficiency. Within a learning health care system, a pilot was ...
  • Tumor-infiltrating lymphocytes and immune-related adverse events in advanced melanoma 
    van Duin, I. A.J.; Schuiveling, M.; ter Maat, L. S.; Veta, M.; van Eijs, M. J.M.; Verheijden, R. J.; van den Berkmortel, F. W.P.J.; Boers-Sonderen, M. J.; Hospers, G. A.P.; Labots, M.; de Groot, J. W.B.; Kapiteijn, E.; Piersma, D.; Vreugdenhil, G.; Westgeest, H.; Schrader, A. M.R.; van Diest, P. J.; Blokx, W. A.M.; Suijkerbuijk, K. P.M. (Elsevier, 2024-12)
    Background: The predictive value of tumor-infiltrating lymphocytes (TILs) in immune-related adverse event (irAE) development remains unknown, although an association between tumor immunogenicity and irAEs has been suggested. ...
  • E3 ligases RNF43 and ZNRF3 display differential specificity for endocytosis of Frizzled receptors 
    Bugter, Jeroen M; van Kerkhof, Peter; Jordens, Ingrid; Janssen, Eline; Tran Ngoc Minh, Thi; Iglesias van Montfort, Daniel; Jamieson, Cara; Maurice, Madelon M (Life Science Alliance, LLC, 2024-09)
    The transmembrane E3 ligases RNF43 and ZNRF3 perform key tumour suppressor roles by inducing endocytosis of members of the Frizzled (FZD) family, the primary receptors for WNT. Loss-of-function mutations in RNF43 and ZNRF3 ...
  • CD163 + Macrophages Induce Endothelial-to-Mesenchymal Transition in Atheroma. 
    Mori, Masayuki; Sakamoto, Atsushi; Kawakami, Rika; Guo, Liang; Slenders, Lotte; Mosquera, Jose Verdezoto; Ghosh, Saikat Kumar B; Wesseling, Marian; Shiraki, Tatsuya; Bellissard, Arielle; Shah, Palak; Weinkauf, Craig C; Konishi, Takao; Sato, Yu; Cornelissen, Anne; Kawai, Kenji; Jinnouchi, Hiroyuki; Xu, Weili; Vozenilek, Aimee E; Williams, Desiree; Tanaka, Takamasa; Sekimoto, Teruo; Kelly, Michael C; Fernandez, Raquel; Grogan, Alyssa; Coslet, A J; Fedotova, Alisa; Kurse, Anjali; Mokry, Michal; Romero, Maria E; Kolodgie, Frank D; Pasterkamp, Gerard; Miller, Clint L; Virmani, Renu; Finn, Aloke V (Lippincott Williams & Wilkins, 2024-07-05)
    BACKGROUND: Cell phenotype switching is increasingly being recognized in atherosclerosis. However, our understanding of the exact stimuli for such cellular transformations and their significance for human atherosclerosis ...
  • Understanding the complexity of cardiogenic shock management: the added value of advanced computational modeling 
    Meuwese, Christiaan L; van Loon, Lex M; Donker, Dirk W (Lippincott Williams & Wilkins, 2024-08-01)
    PURPOSE OF REVIEW: The purpose of this review is to explain the value of computational physiological modeling for in-depth understanding of the complex derangements of cardiopulmonary pathophysiology during cardiogenic ...
  • The geriatric assessment and sarcopenia to assess frailty in older patients with cancer 
    Meerkerk, Christiaan D.A.; Bruijnen, Cheryl P.; van den Bos, Frederiek; Emmelot-Vonk, Marielle H.; de Bree, Remco (Elsevier, 2024-07)
  • The Value of Biological and Conditional Factors for Staging of Patients with Resectable Pancreatic Cancer Undergoing Upfront Resection: A Nationwide Analysis 
    Schouten, Thijs J; van Goor, Iris W J M; Dorland, Galina A; Besselink, Marc G; Bonsing, Bert A; Bosscha, Koop; Brosens, Lodewijk A A; Busch, Olivier R; Cirkel, Geert A; van Dam, Ronald M; Festen, Sebastiaan; Groot Koerkamp, Bas; van der Harst, Erwin; de Hingh, Ignace H J T; Intven, Martijn P W; Kazemier, Geert; Liem, Mike S L; van Lienden, Krijn P; Los, Maartje; de Meijer, Vincent E; Patijn, Gijs A; Schreinemakers, Jennifer M J; Stommel, Martijn W J; van Tienhoven, Geert Jan; Verdonk, Robert C; Verkooijen, Helena M; van Santvoort, Hjalmar C; Molenaar, I Quintus; Daamen, Lois A; Dutch Pancreatic Cancer Group (Springer New York, 2024-08)
    BACKGROUND: Novel definitions suggest that resectability status for pancreatic ductal adenocarcinoma (PDAC) should be assessed beyond anatomical criteria, considering both biological and conditional factors. This has, ...
  • Deformable titanium for acetabular revision surgery: a proof of concept 
    Magré, J; Willemsen, K; Kolken, H M A; Zadpoor, A A; Vogely, H C; van der Wal, B C H; Weinans, H (BioMed Central Ltd., 2023-06-09)
    Custom-made triflange acetabular implants are increasingly used in complex revision surgery where supporting bone stock is diminished. In most cases these triflange cups induce stress-shielding. A new concept for the ...