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UMC Repository: Recent submissions

  • Neonatal encephalopathy and hypoxic-ischemic encephalopathy: moving from controversy to consensus definitions and subclassification 
    Steering Group for DEFiNE (Definition of Neonatal Encephalopathy) (Lippincott Williams & Wilkins, 2023-12)
  • Exploring Metabolomic Patterns in Type 2 Diabetes Mellitus and Response to Glucose-Lowering Medications-Review 
    Shahisavandi, Mina; Wang, Kan; Ghanbari, Mohsen; Ahmadizar, Fariba (Multidisciplinary Digital Publishing Institute (MDPI), 2023-07-18)
    The spectrum of information related to precision medicine in diabetes generally includes clinical data, genetics, and omics-based biomarkers that can guide personalized decisions on diabetes care. Given the remarkable ...
  • Interference of bovine hemoglobin-based oxygen carrier-201 (Hemopure) on four hematology analyzers 
    Bronkhorst-van der Helm, Marinke W.; Weerkamp, Floor; Huisman, Albert; Huisman, Elise J.; Russcher, Henk (Wiley-Blackwell, 2023-12)
    Introduction: Hemoglobin-based oxygen carriers, for example HBOC-201 (Hemopure), are aimed to bridge acute anemia when blood transfusion is not available or refused by the patient. However, since HBOC-201 appears free in ...
  • An implantable loop recorder or smartphone based single-lead electrocardiogram to detect arrhythmia in adults with congenital heart disease? 
    Koole, Maarten A.; Kauw, Dirkjan; Kooiman, Kirsten M.; de Groot, Joris R.; Robbers-Visser, Danielle; Tulevski, Igor I.; Mulder, Barbara J.; Bouma, Berto J.; Schuuring, Mark J. (Frontiers Media S. A., 2023-01-06)
    Background: The European Society of Cardiology (ESC) guidelines for the management of adult congenital heart disease (ACHD) recommend screening in patients at risk for arrhythmic events. However, the optimal mode of detection ...
  • The impact of valvular heart disease in patients with chronic coronary syndrome 
    Molenaar, Mitchel A.; Bouma, Berto J.; Coerkamp, Casper F.; Man, Jelle P.; Išgum, Ivana; Verouden, Niels J.; Selder, Jasper L.; Chamuleau, Steven A.J.; Schuuring, Mark J. (Frontiers Media S. A., 2023)
    Background: The European Society of Cardiology 2019 Guidelines on chronic coronary syndrome (CCS) recommend echocardiographic measurement of the left ventricular function for risk stratification in all patients with CCS. ...
  • Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome 
    Buijsse, Nathan; Jansen, Floor E; Ockeloen, Charlotte W; van Kempen, Marjan J A; Zeidler, Shimriet; Willemsen, Marjolein H; Scarano, Emanuela; Monticone, Sonia; Zonneveld-Huijssoon, Evelien; Low, Karen J; Bayat, Allan; Sisodiya, Sanjay M; Samanta, Debopam; Lesca, Gaetan; de Jong, Danielle; Giltay, Jaqcues C; Verbeek, Nienke E; Kleefstra, Tjitske; Brilstra, Eva H; Vlaskamp, Danique R M (Wiley-Blackwell Publishing Ltd, 2023-12)
    Objective: The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods: We collected data on ...
  • Gastrointestinal and eating problems in SCN1A-related seizure disorders 
    Minderhoud, C A; Postma, A; Jansen, F E; Verhoeven, J S; Schrijver, J J; Goudswaard, J; Andreae, G; Otte, W M; Braun, K P J; Brilstra, E H (Academic Press Inc., 2023-09)
    Objective: Our study aimed to describe the prevalence and characteristics of gastrointestinal and eating problems in Dravet syndrome (DS) and other SCN1A-related seizure disorders and to determine the association between ...
  • Binational confidential enquiry of maternal deaths due to postpartum hemorrhage in France and the Netherlands: Lessons learned through the perspective of a different context of care 
    de Vries, P L M; van den Akker, T; Bloemenkamp, K W M; Grossetti, E; Rigouzzo, A; Saucedo, M; Verspyck, E; Zwart, J; Deneux-Tharaux, C (John Wiley & Sons Inc., 2023-09)
    OBJECTIVE: To learn lessons for maternity care by scrutinizing postpartum hemorrhage management (PPH) in cases of PPH-related maternal deaths in France and the Netherlands. METHODS: In this binational Confidential Enquiry ...
  • Evolution of National Guidelines on Medicines Used to Treat COVID-19 in Pregnancy in 2020-2022: A Scoping Review 
    Maisonneuve, Emeline; de Bruin, Odette; Favre, Guillaume; Goncé, Anna; Donati, Serena; Engjom, Hilde; Hurley, Eimir; Al-Fadel, Nouf; Siiskonen, Satu; Bloemenkamp, Kitty; Nordeng, Hedvig; Sturkenboom, Miriam; Baud, David; Panchaud, Alice (Multidisciplinary Digital Publishing Institute (MDPI), 2023-07-06)
    The lack of inclusion of pregnant women in clinical trials evaluating the effectiveness of medicines to treat COVID-19 has made it difficult to establish evidence-based treatment guidelines for pregnant women. Our aim was ...
  • Spontaneous Haemoperitoneum in Pregnancy: Nationwide Surveillance and Delphi Audit System 
    Schreurs, Anneke M F; Overtoom, Evelien M; de Boer, Marjon A; van der Houwen, Lisette E E; Lier, Marit C I; van den Akker, Thomas; Cornette, Jerome; Vogelvang, Tatjana E; Beenakkers, Ingrid C M; Rosman, Ageeth N; Maas, Jacques W M; Heineman, David J; Finken, Martijn J J; de Vries, Jan J J; Burger, Nicole B; Schaap, Timme P; Bloemenkamp, Kitty W M; Mijatovic, Velja (Wiley-Blackwell, 2023-12)
    OBJECTIVE: To evaluate the incidence, diagnostic management strategies and clinical outcomes of women with spontaneous haemoperitoneum in pregnancy (SHiP) and reassess the definition of SHiP. DESIGN: A population-based ...
  • Genetic immune escape landscape in primary and metastatic cancer 
    Martínez-Jiménez, Francisco; Priestley, Peter; Shale, Charles; Baber, Jonathan; Rozemuller, Erik; Cuppen, Edwin (Nature Research, 2023-05)
    Studies have characterized the immune escape landscape across primary tumors. However, whether late-stage metastatic tumors present differences in genetic immune escape (GIE) prevalence and dynamics remains unclear. We ...
  • Pan-cancer whole-genome comparison of primary and metastatic solid tumours 
    Martínez-Jiménez, Francisco; Movasati, Ali; Brunner, Sascha Remy; Nguyen, Luan; Priestley, Peter; Cuppen, Edwin; Van Hoeck, Arne (Nature Research, 2023-06-08)
    Metastatic cancer remains an almost inevitably lethal disease 1-3. A better understanding of disease progression and response to therapies therefore remains of utmost importance. Here we characterize the genomic differences ...
  • The genomic and transcriptomic landscape of advanced renal cell cancer for individualized treatment strategies 
    de Joode, K; van de Geer, W S; van Leenders, G J L H; Hamberg, P; Westgeest, H M; Beeker, A; Oosting, S F; van Rooijen, J M; Beerepoot, L V; Labots, M; Mathijssen, R H J; Lolkema, M P; Cuppen, E; Sleijfer, S; van de Werken, H J G; van der Veldt, A A M (Nature Publishing Group, 2023-07-03)
    Differences in the clinical course and treatment responses in individual patients with advanced renal cell carcinoma (RCC) can largely be explained by the different genomics of this disease. To improve the personalized ...
  • Elevated IGF-1 concentrations in children with low grade glioma: A descriptive analysis in a retrospective national cohort 
    van Schaik, Jiska; van Roessel, Ichelle M A A; Bos, Iris D; Claashen-van der Grinten, Hedi L; Clement, Sarah C; van Iersel, Laura; Bakker, Boudewijn; Meijer, Lisethe; Kremer, Leontien; Schouten-van Meeteren, A Y Netteke; van Santen, Hanneke M (Wiley-Blackwell, 2023-08)
    Children with low grade glioma (LGG) may present with, or develop, elevated concentrations of insulin-like growth factor 1 (IGF-1). The prevalence, pathophysiology, or its possible clinical effects are poorly understood. ...
  • Acquired hypothalamic dysfunction in childhood: "What do patients need?" - an Endo-ERN survey 
    van Roessel, I M A A; de Graaf, J P; Biermasz, N R; Charmandari, E; van Santen, H M (BioScientifica Ltd., 2023-10-01)
    OBJECTIVE: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, the signs and symptoms of hypothalamic dysfunction ...
  • PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production 
    Ebstein, Frédéric; Küry, Sébastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M; Besnard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M W; Vignard, Virginie; van Jaarsveld, Richard H; Ades, Lesley; Cogné, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C J; Cole, F Sessions; van den Boogaard, Marie-José H; Wambach, Jennifer A; Wegner, Daniel J; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gélineau, Anne-Claire; Powis, Zöe; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T; Osmond, Matthew; Wheeler, Patricia G; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Geneviève; Barcia, Giulia; Feichtinger, René Günther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frédéric; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Völker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E; Elgersma, Ype; Hildebrand, Peter W; Bolduc, François; Krüger, Elke; Bézieau, Stéphane (American Association for the Advancement of Science, 2023-05-31)
    A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) ...
  • Macrocephaly and developmental delay caused by missense variants in RAB5C 
    Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; Network, Undiagnosed Diseases; Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter (Oxford University Press, 2023-11-01)
    Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here ...
  • Long-term nephrotoxicity in irradiated pediatric kidney tumor survivors: A systematic review 
    Dávila Fajardo, Raquel; Raymakers-Janssen, Paulien; van Grotel, Martine; van Wösten-van Asperen, Roelie M; Terhaard, Christianus H; Lilien, Marc R; van den Heuvel-Eibrink, Marry M; Janssens, Geert O (Wiley-Liss Inc., 2023-11)
    OBJECTIVE: Nephrotoxicity can occur as a side effect after treatment for kidney tumor in childhood. The use of radiotherapy (RT) has a potential additional effect. METHODS: A systematic electronic literature search that ...
  • Sex Differences in Poststroke Cognitive Impairment: A Multicenter Study in 2343 Patients With Acute Ischemic Stroke 
    Exalto, Lieza G; Weaver, Nick A; Kuijf, Hugo J; Aben, Hugo P; Bae, Hee-Joon; Best, Jonathan G; Bordet, Régis; Chen, Christopher P L H; van der Giessen, Ruben S; Godefroy, Olivier; Gyanwali, Bibek; Hamilton, Olivia K L; Hilal, Saima; Huenges Wajer, Irene M C; Kim, Jonguk; Kappelle, L Jaap; Kim, Beom Joon; Köhler, Sebastian; de Kort, Paul L M; Koudstaal, Peter J; Lim, Jae-Sung; Makin, Stephen D J; Mok, Vincent C T; van Oostenbrugge, Robert J; Roussel, Martine; Staals, Julie; Valdés-Hernández, Maria Del C; Venketasubramanian, Narayanaswamy; Verhey, Frans R J; Wardlaw, Joanna M; Werring, David J; Xu, Xin; van Zandvoort, Martine J E; Biesbroek, J Matthijs; Chappell, Francesca M; Biessels, Geert Jan (Lippincott Williams & Wilkins, 2023-09-01)
    BACKGROUND: Poststroke cognitive impairment (PSCI) occurs in about half of stroke survivors. Cumulative evidence indicates that functional outcomes of stroke are worse in women than men. Yet it is unknown whether the ...
  • A cluster of blood-based protein biomarkers associated with decreased cerebral blood flow relates to future cardiovascular events in patients with cardiovascular disease 
    Heart-Brain Connection Consortium (SAGE Publications Inc., 2023-12)
    Biological processes underlying decreased cerebral blood flow (CBF) in patients with cardiovascular disease (CVD) are largely unknown. We hypothesized that identification of protein clusters associated with lower CBF in ...