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UMC Repository: Recent submissions

  • Red Cell Properties after Different Modes of Blood Transportation 
    Makhro, Asya; Huisjes, Rick; Verhagen, Liesbeth P; Mañú-Pereira, María Del Mar; Llaudet-Planas, Esther; Petkova-Kirova, Polina; Wang, Jue; Eichler, Hermann; Bogdanova, Anna; van Wijk, Richard; Vives-Corrons, Joan-Lluís; Kaestner, Lars (Frontiers Research Foundation, 2016-07)
    Transportation of blood samples is unavoidable for assessment of specific parameters in blood of patients with rare anemias, blood doping testing, or for research purposes. Despite the awareness that shipment may substantially ...
  • Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations 
    Bianchi, Paola; Schwarz, Klaus; Högel, Josef; Fermo, Elisa; Vercellati, Cristina; Grosse, Regine; van Wijk, Richard; van Zwieten, Rob; Barcellini, Wilma; Zanella, Alberto; Heimpel, Hermann (Wiley-Blackwell, 2016-11)
    Congenital dyserythropoietic anaemia type II (CDAII) is a rare autosomal recessive disease characterized by ineffective erythropoiesis, haemolysis, erythroblast morphological abnormalities, hypoglycosylation of some red ...
  • Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1 
    Koralkova, Pavla; Mojzikova, Renata; van Oirschot, Brigitte; Macartney, Christine; Timr, Pavel; Vives Corrons, Joan Lluis; Striezencova Laluhova, Zuzana; Lejhancova, Katerina; Divoky, Vladimir; van Wijk, Richard (Academic Press Inc., 2016-07)
    Hexokinase (HK) is a key enzyme of glycolysis, the only metabolic pathway able to provide the red blood cell with ATP. HK deficiency is a very rare hereditary disorder with severe chronic nonspherocytic hemolytic anemia ...
  • Pyruvate kinase deficient hemolytic anemia in the Northern Irish population 
    Percy, M J; van Wijk, R; Haggan, S; Savage, G A; Boyd, K; Dempsey, S; Hamilton, J; Kettle, P; Kyle, A; Shepherd, C W; van Solinge, W W; Lappin, T R J; McMullin, M F (Academic Press Inc., 2007)
    A common cause of hereditary nonspherocytic hemolytic anemia is pyruvate kinase deficiency, which is associated with lifelong chronic hemolysis. Pyruvate kinase deficiency has a worldwide distribution with a higher prevalence ...
  • Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase 
    van Wijk, Richard; Huizinga, Eric G; Prins, Ingrid; Kors, Arjenne; Rijksen, Gert; Bierings, Marc; van Solinge, Wouter W (Academic Press Inc., 2004)
    Mutations encoding class I glucose-6-phosphate dehydrogenase (G6PD) variants are associated with chronic nonspherocytic hemolytic anemia (CNSHA), the most severe phenotypic expression of G6PD deficiency. These mutations ...
  • Congenital afibrinogenaemia in a newborn infant due to a novel mutation in the fibrinogen aalpha gene 
    Vlietman, José J; Verhage, Jan; Vos, Hans L; van Wijk, Richard; Remijn, Jasper A; van Solinge, Wouter W; Brus, Frank (Wiley-Blackwell, 2002-10)
  • Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency 
    van Wijk, R; Montefusco, M C; Duga, S; Asselta, R; van Solinge, W; Malcovati, M; Tenchini, M L; Mannucci, P M (Wiley-Blackwell, 2001-09)
    A novel homozygous 3571C-->T nonsense mutation predicting the synthesis of a truncated factor V (FV) molecule was identified in exon 13 of the human coagulation factor V gene in two unrelated Italian probands with undetectable ...
  • A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies 
    Buijs, A; Poddighe, P; van Wijk, R; van Solinge, W; Borst, E; Verdonck, L; Hagenbeek, A; Pearson, P; Lokhorst, H (Elsevier, 2001-11-01)
    Hereditary mutations associated with hematologic malignancies are rare. Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial ...
  • Effects of Pancreatic Fistula After Minimally Invasive and Open Pancreatoduodenectomy 
    Bruna, Caro L; Emmen, Anouk M L H; Wei, Kongyuan; Sutcliffe, Robert P; Shen, Baiyong; Fusai, Guiseppe K; Shyr, Yi-Ming; Khatkov, Igor; White, Steve; Jones, Leia R; Manzoni, Alberto; Kerem, Mustafa; Groot Koerkamp, Bas; Ferrari, Clarissa; Saint-Marc, Olivier; Molenaar, I Quintus; Bnà, Claudio; Dokmak, Safi; Boggi, Ugo; Liu, Rong; Jang, Jin-Young; Besselink, Marc G; Abu Hilal, Mohammad; International Consortium on Minimally Invasive Pancreatic Surgery (I-MIPS) (American Medical Association, 2025-02-01)
    Importance: Postoperative pancreatic fistulas (POPF) are the biggest contributor to surgical morbidity and mortality after pancreatoduodenectomy. The impact of POPF could be influenced by the surgical approach. Objective: ...
  • Rare pediatric tumors benefit from large clinical trials: The story of undifferentiated embryonal sarcoma of the liver 
    van Noesel, Max M. (John Wiley & Sons Inc., 2024-08-01)
  • Robotic Versus Laparoscopic Liver Resection: A Nationwide Propensity Score Matched Analysis 
    Pilz da Cunha, Gabriela; Sijberden, Jasper P; van Dieren, Susan; Gobardhan, Paul; Lips, Daan J; Terkivatan, Türkan; Marsman, Hendrik A; Patijn, Gijs A; Leclercq, Wouter K G; Bosscha, Koop; Mieog, J Sven D; van den Boezem, Peter B; Vermaas, Maarten; Kok, Niels F M; Belt, Eric J T; de Boer, Marieke T; Derksen, Wouter J M; Torrenga, Hans; Verheijen, Paul M; Oosterling, Steven J; Rijken, Arjen M; Coolsen, Marielle M E; Liem, Mike S L; Tran, T C Khé; Gerhards, Michael F; Nieuwenhuijs, Vincent; Abu Hilal, Mohammad; Besselink, Marc G; van Dam, Ronald M; Hagendoorn, Jeroen; Swijnenburg, Rutger-Jan (2024-12)
    OBJECTIVE: To compare nationwide outcomes of robotic liver resection (RLR) with laparoscopic liver resection (LLR). BACKGROUND: Minimally invasive liver resection is increasingly performed using the robotic approach as ...
  • A European expert consensus surgical technique description for robotic hepatectomy 
    Pilz da Cunha, Gabriela; Lips, Daan J; Ahmad, Jawad; Kvarnström, Niclas; Aldrighetti, Luca; D'Hondt, Mathieu; Hagendoorn, Jeroen; Swijnenburg, Rutger-Jan (2024-12-01)
    The robotic platform enables surgeons to operate with a similar level of freedom and control as in open surgery, while still providing the patient with the benefits of a minimally invasive approach. More centres continue ...
  • The impact of summative, formative or programmatic assessment on the Dutch National Pharmacotherapy Assessment: a retrospective multicentre study 
    Donker, Erik M; van Rosse, Floor; Janssen, Ben J A; Knol, Wilma; Dumont, Glenn; van Smeden, Jeroen; Atiqi, Roya; Hessel, Marleen; Richir, Milan C; van Agtmael, Michiel A; Kramers, Cornelis; Tichelaar, Jelle; Education committee of the Dutch Society for Clinical Pharmacology and Biopharmacy (Elsevier, 2025-02-15)
    BACKGROUND: The Dutch National Pharmacotherapy Assessment (DNPA), which focuses on assessing medication safety and essential drug knowledge, was introduced to improve clinical pharmacology and therapeutics education in the ...
  • Students' perspective on the Dutch National Pharmacotherapy Assessment, a national survey study among final-year medical students 
    Donker, Erik M; van Rosse, Floor; Janssen, Ben J A; Knol, Wilma; Dumont, Glenn; van Smeden, Jeroen; Atiqi, Roya; Hessel, Marleen; Richir, Milan C; van Agtmael, Michiel A; Kramers, Cornelis; Tichelaar, Jelle; Education committee of the Dutch Society for Clinical Pharmacology and Biopharmacy (Elsevier, 2025-02-15)
    INTRODUCTION: The Dutch National Pharmacotherapy Assessment (DNPA) was introduced in 2013 to improve clinical pharmacology and therapeutics (CPT) education. This study investigated final-year medical students' perceived ...
  • Depletion of TP53 in Human Pluripotent Stem Cells Triggers Malignant-Like Behavior 
    Montilla-Rojo, Joaquin; Eleveld, Thomas F.; van Soest, Marnix; Hillenius, Sanne; Timmerman, Dennis M.; Gillis, Ad J.M.; Roelen, Bernard A.J.; Mummery, Christine L.; Looijenga, Leendert H.J.; Salvatori, Daniela C.F. (John Wiley & Sons Inc., 2025-04)
    Human pluripotent stem cells (hPSCs) tend to acquire genetic aberrations upon culture in vitro. Common aberrations are mutations in the tumor suppressor TP53, suspected to confer a growth-advantage to the mutant cells. ...
  • Barriers and missed opportunities in PrEP uptake, use and care among men who have sex with men with recent HIV infection in the Netherlands 
    Koole, Jeffrey C.D.; Bedert, Maarten R.D.; Court, Feline de la; Bais, Irene; Wit, Ferdinand; Stalenhoef, Janneke; Mudrikova, Tania; Pogany, Katalin; van Benthem, Birgit; Prins, Maria; Davidovich, Udi; van der Valk, Marc (Public Library of Science, 2025-01)
    Introduction Oral pre-exposure prophylaxis (PrEP) prevents Human Immunodeficiency Virus (HIV) acquisition. In the Netherlands, PrEP is accessible through the national PrEP program (NPP) or general practitioners (GP). Still, ...
  • Reworking Nursing Expertise: Directors of Nursing's Tactics to (Re)Connect Knowledge and Power in Hospital Governance 
    Martini, Dieke; Noordegraaf, Mirko; Schoonhoven, Lisette; Spits, Jet; Van Bokhorst, Pauline; Lalleman, Pieterbas (Wiley, 2025-01)
    Shared governance in hospitals promotes the inclusion of nurses' expertise, knowledge and skills in organisational processes, and nurses increasingly fulfil positions in organisational hierarchies. However, incorporating ...
  • Joint EANM/EANO/RANO/SNMMI practice guideline/procedure standard for PET imaging of brain metastases: version 1.0 
    Verger, Antoine; Tolboom, Nelleke; Cicone, Francesco; Chang, Susan M.; Furtner, Julia; Galldiks, Norbert; Gempt, Jens; Guedj, Eric; Huang, Raymond Y.; Johnson, Derek R.; Law, Ian; Le Rhun, Emilie; Short, Susan C.; Bent, M. J.Van den; Weehaeghe, Donatienne Van; Vogelbaum, Michael A.; Wen, Patrick Y.; Albert, Nathalie L.; Preusser, Matthias (Springer-Verlag, 2025-04)
    This joint practice guideline/procedure standard was collaboratively developed by the European Association of Nuclear Medicine (EANM), the Society of Nuclear Medicine and Molecular Imaging (SNMMI), the European Association ...
  • Phenotype Spectrum of TRPM3-Associated Disorders 
    Jolitz, Laura; Helbig, Ingo; Fitzgerald, Mark P.; McKeown Ruggiero, Sarah; Cohen, Stacey; Angelini, Chloe; Vallespin, Elena; Michaud, Vincent; Gerasimenko, Anna; Cogne, Benjamin; Isidor, Bertrand; Keren, Boris; Dyment, David; Heron, Delphine; Karstensen, Helena Gásdal; Cuppen, Inge; Christodoulou, John; Wilson, Meredith; Lake, Nicole J.; Biskup, Saskia; Syrbe, Steffen; Mori, Takayasu; Becker, Lena Luise; Kaindl, Angela M. (John Wiley & Sons Inc., 2025-03)
    Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and ...
  • Conservative Pulmonary Arteriovenous Malformation Screening in Children: Re-Evaluation of Safety 
    ten Berg, Fleur; Hessels, Josefien; Hosman, Anna; Boerman, Sanne; Post, Marco C.; Balemans, Walter A.F.; Mager, Hans Jurgen (John Wiley & Sons Inc., 2025-01)
    Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease and screening to detect pulmonary arteriovenous malformations (PAVMs) is important to prevent complications. In adults, ...