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UMC Repository: Recent submissions

  • Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy 
    Care4Rare Canada Consortium (Lippincott Williams & Wilkins, 2021-04)
    Correction to: Genetics in Medicine 2020; https://doi.org/10.1038/s41436-020-01020-w; published online 10 December 2020
  • Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome 
    Boot, Erik; Linders, Cathelijne C; Tromp, Sterre H; van den Boogaard, Marie-José; van Eeghen, Agnies M (John Wiley & Sons Inc., 2021-10)
  • TRIM28 variants and Wilms' tumour predisposition 
    Hol, Janna A.; Diets, Illja J.; de Krijger, Ronald R.; van den Heuvel-Eibrink, Marry M.; Jongmans, Marjolijn C.J.; Kuiper, Roland P. (John Wiley & Sons Inc., 2021-07)
    TRIM28 was recently identified as a Wilms' tumour (WT) predisposition gene, with germline pathogenic variants identified in around 1% of isolated and 8% of familial WT cases. TRIM28 variants are associated with epithelial ...
  • Challenges of neoantigen targeting in lynch syndrome and constitutional mismatch repair deficiency syndrome 
    Abidi, Asima; Gorris, Mark A.J.; Brennan, Evan; Jongmans, Marjolijn C.J.; Weijers, Dilys D.; Kuiper, Roland P.; de Voer, Richarda M.; Hoogerbrugge, Nicoline; Schreibelt, Gerty; de Vries, I. Jolanda M. (Multidisciplinary Digital Publishing Institute (MDPI), 2021-05-13)
    Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary disorders characterised by a highly increased risk of cancer development. This is due to germline aberrations in the mismatch repair ...
  • Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group 
    Hol, Janna A.; Jewell, Rosalyn; Chowdhury, Tanzina; Duncan, Catriona; Nakata, Kayo; Oue, Takaharu; Gauthier-Villars, Marion; Littooij, Annemieke S.; Kaneko, Yasuhiko; Graf, Norbert; Bourdeaut, Franck; van den Heuvel-Eibrink, Marry M.; Pritchard-Jones, Kathy; Maher, Eamonn R.; Kratz, Christian P.; Jongmans, Marjolijn C.J. (Elsevier Limited, 2021-08)
    Since previous consensus-based Wilms tumour (WT) surveillance guidelines were published, novel genes and syndromes associated with WT risk have been identified, and diagnostic molecular tests for previously known syndromes ...
  • PROTECT VIII kids extension study: Long-term safety and efficacy of BAY 94-9027 (damoctocog alfa pegol) in children with severe haemophilia A 
    Mancuso, Maria Elisa; Biss, Tina; Fischer, Kathelijn; Maas Enriquez, Monika; Steele, MacGregor; Wang, Maria; Tseneklidou-Stoeter, Despina; Ahuja, Sanjay; Kenet, Gili (Wiley-Blackwell, 2021-05)
    Introduction: BAY 94-9027 (damoctocog alfa pegol; an extended half-life PEGylated recombinant factor VIII [FVIII]) demonstrated efficacy and safety in previously treated paediatric patients (PTPs) aged <12 years with severe ...
  • Inhibitor incidence in an unselected cohort of previously untreated patients with severe haemophilia B: A PedNet study 
    Male, Christoph; Andersson, Nadine G.; Rafowicz, Anne; Liesner, Ri; Kurnik, Karin; Fischer, Kathelijn; Platokouki, Helen; Santagostino, Elena; Chambost, Hervé; Nolan, Beatrice; Königs, Christoph; Kenet, Gili; Ljung, Rolf; Van Den Berg, H. Marijke; PedNet Study Group (Ferrata Storti Foundation, 2021-01)
    The incidence of FIX inhibitors in severe hemophilia B (SHB) is not well defined. Frequencies of 3-5% have been reported but most studies to date were small, including patients with different severities, and without ...
  • Histopathologische gradering van het mammacarcinoom: GROTE VARIATIE MET GROTE GEVOLGEN? 
    van Dooijeweert, C.; Baas, I. O.; Deckers, I. A.G.; van der Wall, E.; van Diest, P. J. (Bohn Stafleu van Loghum, 2021-01-14)
    The pathologist's assessment of tumor tissue plays a critical role in therapeutic decision-making in early-stage invasive breast cancer. In daily practice, however, there appears to be considerable variation in grading ...
  • Blunt duct adenosis: A separate entity from columnar cell lesions? 
    De Boer, Mirthe; Van Diest, Paul J. (BMJ Publishing Group, 2022-01-01)
    Blunt duct adenosis (BDA) is a breast lesion first described by Foote and Stewart in 1945 as a proliferative benign lesion of the terminal duct lobular unit. Throughout recent decades, further literature descriptions of ...
  • Cytoplasmic DDX3 as prognosticator in male breast cancer 
    van der Pol, Carmen C.; Moelans, Cathy B.; Manson, Quirine F.; Batenburg, Marilot C.T.; van der Wall, Elsken; Borel Rinkes, Inne; Verkooijen, Lenny; Raman, Venu; van Diest, Paul J. (Springer-Verlag, 2021-10)
    Male breast cancer (MBC) is a rare disease. Due to its rarity, treatment is still directed by data mainly extrapolated from female breast cancer (FBC) treatment, despite the fact that it has recently become clear that MBC ...
  • In Reply to Tsoutsou 
    Vasmel, Jeanine E.; Vreuls, Celien P.H.; Manson, Quirine F.; Charaghvandi, Ramona K.; van Gorp, Joost; van Leeuwen, A. M.Gijs; van Diest, Paul J.; Verkooijen, Helena M.; Desiree van den Bongard, H. J.G. (Elsevier, 2021-07-15)
  • The association of socioeconomic status on treatment strategy in patients with stage I and II breast cancer in the Netherlands 
    Filipe, M. D.; Siesling, S.; Vriens, M. R.; van Diest, P.; Witkamp, A. J. (Springer New York, 2021-09)
    Background: Previous studies have shown that socioeconomic status (SES) influences breast cancer therapy. However, these studies were performed in countries with unequal access to healthcare. Therefore, the aim of this ...
  • Mechanical alterations of the hippocampus in the APP/PS1 Alzheimer's disease mouse model 
    Antonovaite, Nelda; Hulshof, Lianne A; Huffels, Christiaan F M; Hol, Elly M; Wadman, Wytse J; Iannuzzi, Davide (Elsevier, 2021-10)
    There is increasing evidence of altered tissue mechanics in neurodegeneration. However, due to difficulties in mechanical testing procedures and the complexity of the brain, there is still little consensus on the role of ...
  • Governance aspects of large-scale implementation of automated surveillance of healthcare-associated infections 
    van Rooden, Stephanie M.; Aspevall, Olov; Carrara, Elena; Gubbels, Sophie; Johansson, Anders; Lucet, Jean Christophe; Mookerjee, Siddharth; Palacios-Baena, Zaira R.; Presterl, Elisabeth; Tacconelli, Evelina; Abbas, Mohamed; Behnke, Michael; Gastmeier, Petra; van Mourik, Maaike S.M. (Elsevier, 2021-07)
    Objectives: Surveillance of healthcare-associated infections (HAI) is increasingly automated by applying algorithms to routine-care data stored in electronic health records. Hitherto, initiatives have mainly been confined ...
  • Prognostic value of patient-reported quality of life for survival in oesophagogastric cancer: analysis from the population-based POCOP study 
    Dutch Upper GI Cancer Group (DUCG) (Springer Japan, 2021-11)
    BACKGROUND: Accumulating evidence of trials demonstrates that patient-reported health-related quality of life (HRQoL) at diagnosis is prognostic for overall survival (OS) in oesophagogastric cancer. However, real-world ...
  • PRAISE: providing a roadmap for automated infection surveillance in Europe 
    van Mourik, Maaike S.M.; van Rooden, Stephanie M.; Abbas, Mohamed; Aspevall, Olov; Astagneau, Pascal; Bonten, Marc J.M.; Carrara, Elena; Gomila-Grange, Aina; de Greeff, Sabine C.; Gubbels, Sophie; Harrison, Wendy; Humphreys, Hilary; Johansson, Anders; Koek, Mayke B.G.; Kristensen, Brian; Lepape, Alain; Lucet, Jean Christophe; Mookerjee, Siddharth; Naucler, Pontus; Palacios-Baena, Zaira R.; Presterl, Elisabeth; Pujol, Miquel; Reilly, Jacqui; Roberts, Christopher; Tacconelli, Evelina; Teixeira, Daniel; Tängdén, Thomas; Valik, John Karlsson; Behnke, Michael; Gastmeier, Petra (Elsevier, 2021-07)
    Introduction: Healthcare-associated infections (HAI) are among the most common adverse events of medical care. Surveillance of HAI is a key component of successful infection prevention programmes. Conventional surveillance ...
  • Getting it right: automated surveillance of healthcare-associated infections 
    van Mourik, Maaike S.M. (Elsevier, 2021-07)
  • Adaptive threshold-based alarm strategies for continuous vital signs monitoring 
    van Rossum, Mathilde C.; Vlaskamp, Lyan B.; Posthuma, Linda M.; Visscher, Maarten J.; Breteler, Martine J.M.; Hermens, Hermie J.; Kalkman, Cor J.; Preckel, Benedikt (Springer Netherlands, 2022-04)
    Continuous vital signs monitoring in post-surgical ward patients may support early detection of clinical deterioration, but novel alarm approaches are required to ensure timely notification of abnormalities and prevent ...
  • Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series 
    Zerjav Tansek, Mojca; Kodric, Jana; Klemencic, Simona; Boelens, Jaap Jan; van Hasselt, Peter M.; Drole Torkar, Ana; Doric, Maja; Koren, Alenka; Avcin, Simona; Battelino, Tadej; Groselj, Urh (Elsevier, 2021-09)
    Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare, X-linked recessive multisystem lysosomal storage disease due to iduronate-2-sulfatase enzyme deficiency. We presented three unrelated Slovenian patients ...
  • Children with multiple endocrine neoplasia type 2B: Not tall and marfanoid, but short with normal body proportions 
    van den Broek, Medard F M; van Santen, Hanneke M; Valk, Gerlof D; Verrijn Stuart, Annemarie A (Wiley-Blackwell, 2021-09)
    Objective: Multiple endocrine neoplasia 2B (MEN2B) is characterised by early-onset medullary thyroid carcinoma (MTC), pheochromocytoma and several nonendocrine manifestations. Unfortunately, MEN2B is often diagnosed late, ...