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UMC Repository: Recent submissions

  • Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry 
    Glenthøj, Andreas; Grace, Rachael F.; Lander, Carl; van Beers, Eduard J.; Glader, Bertil; Kuo, Kevin H.M.; Yan, Yan; McGee, Bryan; Boscoe, Audra N.; Li, Junlong; Bianchi, Paola (Wiley-Blackwell, 2024-08)
    Pyruvate kinase (PK) deficiency, a rare, congenital haemolytic anaemia caused by mutations in the PKLR gene, is associated with many clinical manifestations, but the full disease burden has yet to be characterised. The ...
  • Pulmonary artery pressure monitoring in chronic heart failure: effects across clinically relevant subgroups in the MONITOR-HF trial 
    Clephas, P R D; Zwartkruis, V W; Malgie, J; van Gent, M W F; Brunner-La Rocca, H P; Szymanski, M K; van Halm, V P; Handoko, M L; Kok, W; Asselbergs, F W; van Kimmenade, R; Manintveld, O; van Mieghem, N M D A; Beeres, S L M A; Post, M C; Borleffs, C J W; Tukkie, R; Mosterd, A; Linssen, G C M; Spee, R F; Emans, M E; Smilde, T D J; van Ramshorst, J; Kirchhof, C; Feenema-Aardema, F; da Fonseca, C A; van den Heuve, M; Hazeleger, R; van Eck, M; van Heerebeek, L; Boersma, H; Rienstra, M; de Boer, R A; Brugts, J J (Oxford University Press, 2024-08-21)
    BACKGROUND AND AIMS: In patients with chronic heart failure (HF), the MONITOR-HF trial demonstrated the efficacy of pulmonary artery (PA)-guided HF therapy over standard of care in improving quality of life and reducing ...
  • Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes 
    Hernández, Carolina A.; Peikert, Kevin; Qiao, Min; Darras, Alexis; de Wilde, Jonathan R.A.; Bos, Jennifer; Leibowitz, Maya; Galea, Ian; Wagner, Christian; Rab, Minke A.E.; Walker, Ruth H.; Hermann, Andreas; van Beers, Eduard J.; van Wijk, Richard; Kaestner, Lars (Frontiers Media S. A., 2024-07-18)
    Introduction: The unique red blood cell (RBC) properties that characterize the rare neuroacanthocytosis syndromes (NAS) have prompted the exploration of osmotic gradient ektacytometry (Osmoscan) as a diagnostic tool for ...
  • Alternative platelet differentiation pathways initiated by nonhierarchically related hematopoietic stem cells 
    Carrelha, Joana; Mazzi, Stefania; Winroth, Axel; Hagemann-Jensen, Michael; Ziegenhain, Christoph; Högstrand, Kari; Seki, Masafumi; Brennan, Margs S.; Lehander, Madeleine; Wu, Bishan; Meng, Yiran; Markljung, Ellen; Norfo, Ruggiero; Ishida, Hisashi; Belander Strålin, Karin; Grasso, Francesca; Simoglou Karali, Christina; Aliouat, Affaf; Hillen, Amy; Chari, Edwin; Siletti, Kimberly; Thongjuea, Supat; Mead, Adam J.; Linnarsson, Sten; Nerlov, Claus; Sandberg, Rickard; Yoshizato, Tetsuichi; Woll, Petter S.; Jacobsen, Sten Eirik W. (Nature Research, 2024-06)
    Rare multipotent stem cells replenish millions of blood cells per second through a time-consuming process, passing through multiple stages of increasingly lineage-restricted progenitors. Although insults to the blood-forming ...
  • Mitral valve prolapse: arrhythmic risk during pregnancy and postpartum 
    Sabbag, Avi; Aabel, Eivind W.; Castrini, Anna Isotta; Siontis, Konstantinos C.; Laredo, Mikael; Nizard, Jacky; Duthoit, Guillaume; Asirvatham, Samuel; Sehrawat, Ojasay; Kirkels, Feddo P.; van Rosendael, Philippe J.; Beinart, Roy; Acha, Moshe Rav; Peichl, Petr; Lim, Han S.; Sohns, Christian; Martins, Raphael; Font, Jonaz; Truong, Nguyen N.K.; Estensen, Mette; Haugaa, Kristina H. (Oxford University Press, 2024-05-21)
    Background and Arrhythmic mitral valve prolapse (AMVP) is linked to life-threatening ventricular arrhythmias (VAs), and young women are Aims considered at high risk. Cases of AMVP in women with malignant VA during pregnancy ...
  • Atherosclerosis evaluation and cardiovascular risk estimation using coronary computed tomography angiography 
    Nurmohamed, Nick S.; van Rosendael, Alexander R.; Danad, Ibrahim; Ngo-Metzger, Quyen; Taub, Pam R.; Ray, Kausik K.; Figtree, Gemma; Bonaca, Marc P.; Hsia, Judith; Rodriguez, Fatima; Sandhu, Alexander T.; Nieman, Koen; Earls, James P.; Hoffmann, Udo; Bax, Jeroen J.; Min, James K.; Maron, David J.; Bhatt, Deepak L. (Oxford University Press, 2024-05-21)
    Clinical risk scores based on traditional risk factors of atherosclerosis correlate imprecisely to an individual’s complex pathophysiological predisposition to atherosclerosis and provide limited accuracy for predicting ...
  • Decompressive craniectomy plus best medical treatment versus best medical treatment alone for spontaneous severe deep supratentorial intracerebral haemorrhage: a randomised controlled clinical trial 
    Beck, Jürgen; Fung, Christian; Strbian, Daniel; Bütikofer, Lukas; Z'Graggen, Werner J.; Lang, Matthias F.; Beyeler, Seraina; Gralla, Jan; Ringel, Florian; Schaller, Karl; Plesnila, Nikolaus; Arnold, Marcel; Hacke, Werner; Jüni, Peter; Mendelow, Alexander David; Stapf, Christian; Al-Shahi Salman, Rustam; Bressan, Jenny; Lerch, Stefanie; Hakim, Arsany; Martinez-Majander, Nicolas; Piippo-Karjalainen, Anna; Vajkoczy, Peter; Wolf, Stefan; Schubert, Gerrit A.; Höllig, Anke; Veldeman, Michael; Roelz, Roland; Gruber, Andreas; Rauch, Philip; Mielke, Dorothee; Rohde, Veit; Kerz, Thomas; Uhl, Eberhard; Thanasi, Enea; Huttner, Hagen B.; Kallmünzer, Bernd; Jaap Kappelle, L.; Deinsberger, Wolfgang; Roth, Christian; Lemmens, Robin; Leppert, Jan; Sanmillan, Jose L.; Coutinho, Jonathan M.; Hackenberg, Katharina A.M.; Reimann, Gernot; Mazighi, Mikael; Bassetti, Claudio L.A.; Mattle, Heinrich P.; Raabe, Andreas; SWITCH study investigators (Elsevier, 2024-06-01)
    Background: It is unknown whether decompressive craniectomy improves clinical outcome for people with spontaneous severe deep intracerebral haemorrhage. The SWITCH trial aimed to assess whether decompressive craniectomy ...
  • Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes - ENG and ACVRL1 
    Demille, Desiree; McDonald, Jamie; Bernabeu, Carmelo; Racher, Hilary; Olivieri, Carla; Cantarini, Claudia; Sbalchiero, Anna; Thompson, Bryony A.; Jovine, Luca; Shovlin, Claire L.; Dupuis-Girod, Sophie; Lesca, Gaetan; Tusseau, Maud; Ganguly, Arupa; Kasthuri, Raj S.; Jessen, Jaime; Massink, Maarten P.G.; Ichikawa, Shoji; Bayrak-Toydemir, Pinar (John Wiley & Sons Inc., 2024)
    The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need ...
  • Automated Non-Sterile Pharmacy Compounding: A Multi-Site Study in European Hospital and Community Pharmacies with Pediatric Immediate Release Propranolol Hydrochloride Tablets 
    Sandler Topelius, Niklas; Shokraneh, Farnaz; Bahman, Mahsa; Lahtinen, Julius; Hassinen, Niko; Airaksinen, Sari; Verma, Soumya; Hrizanovska, Ludmila; Lass, Jana; Paaver, Urve; Tähnas, Janika; Kern, Catharina; Lagarce, Frederic; Fenske, Dominic; Malik, Julia; Scherliess, Holger; Cruz, Sara P.; Paulsson, Mattias; Dekker, Jan; Kammonen, Katja; Rautamo, Maria; Lück, Hendrik; Pierrot, Antoine; Stareprawo, Stephanie; Tubic-Grozdanis, Marija; Zibolka, Stefanie; Lösch, Uli; Jeske, Martina; Griesser, Ulrich; Hummer, Karin; Thalmeier, Andreas; Harjans, Anna; Kruse, Alexander; Heimke-Brinck, Ralph; Khoukh, Karim; Bruno, Fabien (Multidisciplinary Digital Publishing Institute, 2024-05)
    Pharmacy compounding, the art and science of preparing customized medications to meet individual patient needs, is on the verge of transformation. Traditional methods of compounding often involve manual and time-consuming ...
  • Geometry and Symmetry of Willis’ Circle and Middle Cerebral Artery Aneurysms Development 
    Sturiale, Carmelo Lucio; Scerrati, Alba; Ricciardi, Luca; Rustemi, Oriela; Auricchio, Anna Maria; Norri, Nicolò; Piazza, Amedeo; Raneri, Fabio; Benato, Alberto; Albanese, Alessio; Mangiola, Annunziato; Zotta, Donato Carlo; D’Andrea, Giancarlo; Picotti, Veronica; Raco, Antonino; Volpin, Lorenzo; Trevisi, Gianluca (Multidisciplinary Digital Publishing Institute (MDPI), 2024-05)
    Background: A relationship between the geometry and symmetry of Willis’ circle and intracranial aneurysms was reported for anterior communicating and posterior communicating (PCom) aneurysms. A similar association with the ...
  • Characteristics and immediate outcomes of patients who underwent percutaneous balloon mitral valvuloplasty at the Jakaya Kikwete Cardiac Institute, Tanzania 
    Mutagaywa, Reuben K.; Cramer, Maarten J.; Chillo, Pilly; Barongo, Aileen; Kifai, Engerasiya; Chamuleau, Steven; Eze-Nliam, Chete; Vera, Nelson B.; Nkya, Deogratias; Loth, Alex; Alencherry, Ben; Mongella, Stella; Mayala, Henry; Kisenge, Peter; Mwinchete, Salehe; Joseph, Alex B.; Kwesigabo, Gideon; Kamuhabwa, Appolinary; Albaghdadi, Mazen; Ghobrial, Joanna; Janabi, Mohamed (Clinics Cardive Publishing (PTY)Ltd, 2024-04)
    Background: For rheumatic mitral stenosis (MS), a multidisciplinary evaluation is mandatory to determine the optimal treatment: medical, percutaneous balloon mitral valvuloplasty (PBMV) or valve surgery. Clinical and imaging ...
  • Electronic Nicotine-Delivery Systems for Smoking Cessation. 
    Borm, Frank J.; Cohen, Sophie; Cohen, Danielle (Massachussetts Medical Society, 2024-05-15)
  • From long-term follow-up Recommendations for clinical practice to plain language summaries for childhood, adolescent, and young adult cancer survivors 
    van den Oever, Selina R.; Fuchs, Tessa; Levitt, Gill A.; Haupt, Riccardo; Mulder, Renée L.; Amariutei, Ana; Bardi, Edit; Becker, Tom; Brown, Morven; Gsell, Hannah; Hartogh, Jaap den; Essiaf, Samira; Muraca, Monica; Potter, Emma; Schneider, Carina; Sugden, Elaine; Tomášiková, Zuzana; Vermeulen, Herma; Kremer, Leontien C.M.; Skinner, Roderick; van der Pal, Helena J.H. (Elsevier, 2024-06)
    Background: Having sufficient knowledge of cancer diagnosis, treatment and late effects in survivors of childhood, adolescent, and young adult (CAYA) cancer is important for effective self-management and optimising health ...
  • Expertise in surgical neuro-oncology. Results of a survey by the EANS neuro-oncology section 
    Gousias, K.; Hoyer, A.; Mazurczyk, L. A.; Bartek, J.; Bruneau, M.; Celtikci, E.; Foroglou, N.; Freyschlag, C.; Grossman, R.; Jungk, C.; Metellus, P.; Netuka, D.; Rola, R.; Schucht, P.; Senft, C.; Signorelli, F.; Vincent, A. J.P.E.; Simon, M.; Robe, Pierre A.; for the EANS Surgical Neuro-oncology Expertise Survey working group (Elsevier, 2024)
    Introduction: Technical advances and the increasing role of interdisciplinary decision-making may warrant formal definitions of expertise in surgical neuro-oncology. Research question: The EANS Neuro-oncology Section felt ...
  • Multiomic analyses uncover immunological signatures in acute and chronic coronary syndromes 
    Pekayvaz, Kami; Losert, Corinna; Knottenberg, Viktoria; Gold, Christoph; van Blokland, Irene V.; Oelen, Roy; Groot, Hilde E.; Benjamins, Jan Walter; Brambs, Sophia; Kaiser, Rainer; Gottschlich, Adrian; Hoffmann, Gordon Victor; Eivers, Luke; Martinez-Navarro, Alejandro; Bruns, Nils; Stiller, Susanne; Akgöl, Sezer; Yue, Keyang; Polewka, Vivien; Escaig, Raphael; Joppich, Markus; Janjic, Aleksandar; Popp, Oliver; Kobold, Sebastian; Petzold, Tobias; Zimmer, Ralf; Enard, Wolfgang; Saar, Kathrin; Mertins, Philipp; Huebner, Norbert; van der Harst, Pim; Franke, Lude H.; van der Wijst, Monique G.P.; Massberg, Steffen; Heinig, Matthias; Nicolai, Leo; Stark, Konstantin (Nature Research, 2024-06)
    Acute and chronic coronary syndromes (ACS and CCS) are leading causes of mortality. Inflammation is considered a key pathogenic driver of these diseases, but the underlying immune states and their clinical implications ...
  • New Insights in ATP Synthesis as Therapeutic Target in Cancer and Angiogenic Ocular Diseases 
    van Noorden, Cornelis J.F.; Yetkin-Arik, Bahar; Serrano Martinez, Paola; Bakker, Noëlle; van Breest Smallenburg, Mathilda E.; Schlingemann, Reinier O.; Klaassen, Ingeborg; Majc, Bernarda; Habic, Anamarija; Bogataj, Urban; Galun, S. Katrin; Vittori, Milos; Erdani Kreft, Mateja; Novak, Metka; Breznik, Barbara; Hira, Vashendriya V.V. (Histochemical Society Inc., 2024-05)
    Lactate and ATP formation by aerobic glycolysis, the Warburg effect, is considered a hallmark of cancer. During angiogenesis in non-cancerous tissue, proliferating stalk endothelial cells (ECs) also produce lactate and ATP ...
  • First-time surgical aortic valve replacement: Nationwide trends and outcomes from the Netherlands Heart Registration 
    Daeter, Edgar J.; De Beaufort, Hector W.L.; Roefs, Maaike M.; Van Boven, Wim Jan P.; Van Veghel, Dennis; Van Der Kaaij, Niels P.; Cardiothoracic Surgery Registration Committee of the Netherlands Heart Registration (Elsevier, 2024-05)
    OBJECTIVES: The aim of this study was to describe trends and outcomes for patients undergoing surgical aortic valve replacement (SAVR) in the Netherlands. METHODS: The Netherlands Heart Registration database was used to ...
  • Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits 
    van der Harst, Pim; Million Veteran Program; LifeLines Cohort Study; CHARGE Consortium; ICBP Consortium (Nature Research, 2024-05-01)
    Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals (P < 5 × 10−8) from the largest single-stage blood pressure (BP) genome-wide ...
  • Prognostic impact and causality of age on oncological outcomes in women with endometrial cancer: a multimethod analysis of the randomised PORTEC-1, PORTEC-2, and PORTEC-3 trials 
    Wakkerman, Famke C.; Wu, Jiqing; Putter, Hein; Jürgenliemk-Schulz, Ina M.; Jobsen, Jan J.; Lutgens, Ludy C.H.W.; Haverkort, Marie A.D.; de Jong, Marianne A.; Mens, Jan Willem M.; Wortman, Bastiaan G.; Nout, Remi A.; Léon-Castillo, Alicia; Powell, Melanie E.; Mileshkin, Linda R.; Katsaros, Dionyssios; Alfieri, Joanne; Leary, Alexandra; Singh, Naveena; de Boer, Stephanie M.; Nijman, Hans W.; Smit, Vincent T.H.B.M.; Bosse, Tjalling; Koelzer, Viktor H.; Creutzberg, Carien L.; Horeweg, Nanda (Elsevier Limited, 2024-06)
    Background: Numerous studies have shown that older women with endometrial cancer have a higher risk of recurrence and cancer-related death. However, it remains unclear whether older age is a causal prognostic factor, or ...
  • Diagnostic yield of molecular diagnostics for the atypical pathogens: diagnostic stewardship is warranted 
    Rigter, Marloes; van Roeden, Sonja E.; Barth, Roos; Wegdam-Blans, Marjolijn (Elsevier, 2024-09)