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UMC Repository: Recent submissions

  • Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter hypermethylation 
    de Jong, Vincent M.T.; Pruntel, Roelof; Steenbruggen, Tessa G.; Bleeker, Fonnet E.; Nederlof, Petra; Hogervorst, Frans B.L.; linn, Sabine C. (Springer Netherlands, 2023-04)
    An inherited single nucleotide variant (SNV) in the 5′UTR of the BRCA1 gene c.-107A > T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and ovarian cancer phenotype in two UK families. ...
  • Prevention of microgliosis halts early memory loss in a mouse model of Alzheimer's disease 
    Kater, Mandy S J; Huffels, Christiaan F M; Oshima, Takuya; Renckens, Niek S; Middeldorp, Jinte; Boddeke, Erik W G M; Smit, August B; Eggen, Bart J L; Hol, Elly M; Verheijen, Mark H G (Academic Press Inc., 2023-01)
    Alzheimer's disease (AD) is a neurodegenerative disorder characterized by cognitive decline, the neuropathological formation of amyloid-beta (Aβ) plaques and neurofibrillary tangles. The best cellular correlates of the ...
  • Factors that influence continuing professional development over a nursing career: A scoping review 
    Hakvoort, Lysette; Dikken, Jeroen; Cramer-Kruit, Jessica; Kristen , Molendijk-van Nieuwenhuyzen; van der Schaaf, Marieke; Schuurmans, Marieke (Elsevier, 2022-11)
    Aims: Systematically synthesize research about factors that influence CPD over a nursing career. Background: Continuing professional development (CPD) in nursing is defined as ‘a life-long process of active participation ...
  • Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants 
    Kayumi, Sayaka; Pérez-Jurado, Luis A; Palomares, María; Rangu, Sneha; Sheppard, Sarah E; Chung, Wendy K; Kruer, Michael C; Kharbanda, Mira; Amor, David J; McGillivray, George; Cohen, Julie S; García-Miñaúr, Sixto; van Eyk, Clare L; Harper, Kelly; Jolly, Lachlan A; Webber, Dani L; Barnett, Christopher P; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela Del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R; Bhoj, Elizabeth J; Li, Dong; Ortiz-Gonzalez, Xilma R; Keena, Beth; Zackai, Elaine H; Goldberg, Ethan M; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E; Stegmann, Alexander P A; Sinnema, Margje; Stevens, Servi C J; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W; Procopio, Rebecca A; Millan, Francisca; Morrow, Michelle M; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H; Gecz, Jozef; Corbett, Mark A (Lippincott Williams & Wilkins, 2022-11)
    PURPOSE: Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most frequent, recurrent monogenic cause of cerebral palsy ...
  • KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism 
    Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G Christoph; Kluger, Gerhard; Mefford, Heather C; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C; Taglialatela, Maurizio; Weckhuysen, Sarah (Elsevier, 2022-07)
    BACKGROUND: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and ...
  • Acute keelpijn, niet altijd onschuldig 
    van Dam-Kastelein, Jeanine; Gorter-Houtman, Nienke D.; Donker, Dirk W.; Buwalda, Joeri; van Kempen, Pauline M.W. (Bohn Stafleu van Loghum, 2022-10-04)
    Acute sore throat is one of the most common problems in general practice. It usually concerns a viral oropharyngeal infection, with good recovery within 10 days. In current guidelines, antibiotics are recommended only in ...
  • A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use 
    Ardisasmita, Arif Ibrahim; Schene, Imre F; Joore, Indi P; Kok, Gautam; Hendriks, Delilah; Artegiani, Benedetta; Mokry, Michal; Nieuwenhuis, Edward E S; Fuchs, Sabine A (Springer Nature, 2022-10-14)
    The myriad of available hepatocyte in vitro models provides researchers the possibility to select hepatocyte-like cells (HLCs) for specific research goals. However, direct comparison of hepatocyte models is currently ...
  • The Dutch Working Party on Antibiotic Policy (SWAB) Recommendations for the Diagnosis and Management of Febrile Neutropenia in Patients with Cancer 
    de la Court, J. R.; Bruns, A. H.W.; Roukens, A. H.E.; Baas, I. O.; van Steeg, K.; Toren-Wielema, M. L.; Tersmette, M.; Blijlevens, N. M.A.; Huis in ’t Veld, R. A.G.; Wolfs, T. F.W.; Tissing, W. J.E.; Kyuchukova, Y.; Heijmans, J. (Springer Healthcare, 2022-12)
    Introduction: This guideline was written by a multidisciplinary committee with mandated members of the Dutch Society for Infectious Diseases, Dutch Society for Hematology, Dutch Society for Medical Oncology, Dutch Association ...
  • Immunogenicity and reactogenicity of SARS-CoV-2 vaccines in people living with HIV in the Netherlands: A nationwide prospective cohort study 
    Hensley, Kathryn S; Jongkees, Marlou J; Geers, Daryl; GeurtsvanKessel, Corine H; Mueller, Yvonne M; Dalm, Virgil A S H; Papageorgiou, Grigorios; Steggink, Hanka; Gorska, Alicja; Bogers, Susanne; den Hollander, Jan G; Bierman, Wouter F W; Gelinck, Luc B S; Schippers, Emile F; Ammerlaan, Heidi S M; van der Valk, Marc; van Vonderen, Marit G A; Delsing, Corine E; Gisolf, Elisabeth H; Bruns, Anke H W; Lauw, Fanny N; Berrevoets, Marvin A H; Sigaloff, Kim C E; Soetekouw, Robert; Branger, Judith; de Mast, Quirijn; Lammers, Adriana J J; Lowe, Selwyn H; de Vries, Rory D; Katsikis, Peter D; Rijnders, Bart J A; Brinkman, Kees; Roukens, Anna H E; Rokx, Casper (Public Library of Science, 2022-10)
    Background Vaccines can be less immunogenic in people living with HIV (PLWH), but for SARS-CoV-2 vaccinations this is unknown. In this study we set out to investigate, for the vaccines currently approved in the Netherlands, ...
  • External Validation of the Colon Life Nomogram for Predicting 12-Week Mortality in Dutch Metastatic Colorectal Cancer Patients Treated with Trifluridine/Tipiracil in Daily Practice 
    Hamers, Patricia A.H.; Wensink, G. Emerens; van Smeden, Maarten; Vink, Geraldine R.; Smabers, Lidwien P.; Lunenberg, Renee A.; Laclé, Miangela M.; Koopman, Miriam; May, Anne M.; Roodhart, Jeanine M.L. (Multidisciplinary Digital Publishing Institute (MDPI), 2022-10-18)
    Background: Predicting prognosis in refractory metastatic colorectal cancer (mCRC) patients is needed to guide decision making. The Colon Life nomogram was developed to predict 12-week mortality in refractory mCRC patients. ...
  • Correlation of Immunological and Histopathological Features with Gene Expression-Based Classifiers in Colon Cancer Patients 
    van de Weerd, Simone; Smit, Marloes A; Roelands, Jessica; Mesker, Wilma E; Bedognetti, Davide; Kuppen, Peter J K; Putter, Hein; Tollenaar, Rob A E M; Roodhart, Jeanine M L; Hendrickx, Wouter; Medema, Jan Paul; van Krieken, J Han J M (Multidisciplinary Digital Publishing Institute (MDPI), 2022-10-02)
    The purpose of this study was to evaluate the association between four distinct histopathological features: (1) tumor infiltrating lymphocytes, (2) mucinous differentiation, (3) tumor-stroma ratio, plus (4) tumor budding ...
  • Describing and measuring leadership within school teams by applying a social network perspective. 
    de Jong, Angela; Brouwer, Jasperina; Lockhorst, Ditte; de Kleijn, Renske; van Tartwijk, Jan; Noordegraaf, Mirko (Elsevier, 2022)
    Despite the growing number of studies that acknowledge a crucial role of distributed leadership within schools, limited knowledge exists on how to describe and measure this multi-faceted concept. In a social network study ...
  • Variaties in de zorg in Nederlandse hospices: In hoeverre volgen hospices de richtlijnen voor palliatieve zorg? 
    de Graaf, Everlien; Grant, Matthew; van der Baan, FH; Verboeket-Crul, Cathelijne; Ausems, MGEM; Leget, Carlo; Teunissen, Saskia C.C.M. (Bohn Stafleu van Loghum, 2022-10-25)
  • Feasibility of Narrow-Band Imaging, Intraductal Biopsy, and Laser Ablation During Mammary Ductoscopy: Protocol for an Interventional Study 
    Makineli, S; Filipe, M D; Euwe, F; Sakes, A; Dankelman, J; Breedveld, P; Vriens, M R; van Diest, P J; Witkamp, A J (Wolters Kluwer Health, 2022)
    Introduction: Ductoscopy is a minimally invasive micro-endoscopic approach for direct visualization of intraductal lesions of the breast. Challenges of ductoscopy are low sensitivity for detecting malignancy, the lack of ...
  • Tranexamic Acid After Aneurysmal Subarachnoid Hemorrhage: Post-Hoc Analysis of the ULTRA Trial 
    Tjerkstra, Maud A; Post, Rene; Germans, Menno R; Vergouwen, Mervyn D I; Jellema, Korné; Koot, Radboud W; Kruyt, Nyika D; Willems, Peter W A; Wolfs, Jasper F C; de Beer, Frits C; Kieft, Hans; Nanda, Dharmin; van der Pol, Bram; Roks, Gerwin; de Beer, Frank; Halkes, Patricia H A; Reichman, Loes J A; Brouwers, Paul J A M; Van den Berg-Vos, Renske M; Kwa, Vincent I H; van der Ree, Taco C; Bronner, Irene; Bienfait, Henri P; Boogaarts, Hieronymus; Klijn, Catharina Jm; van den Berg, René; Coert, Bert A; Horn, Janneke; Majoie, Charles B L M; Rinkel, Gabriël J E; Roos, Yvo B W M; Vandertop, William; Verbaan, Dagmar (Lippincott Williams & Wilkins, 2022-12-06)
    Background and ObjectivesThe ULTRA trial showed that ultra-early and short-term tranexamic acid treatment after subarachnoid hemorrhage did not improve clinical outcome at 6 months. An expected proportion of the included ...
  • Applicability of the European Society of Cardiology Guidelines on the management of acute coronary syndromes to older people with haemophilia A - A modified Delphi consensus by the ADVANCE Working Group 
    Klamroth, Robert; Ay, Cihan; De Moerloose, Philippe; Fontana, Pierre; Windyga, Jerzy; Astermark, Jan; Berntorp, Erik; Carvalho, Manuela; Dolan, Gerard; Hermans, Cedric; Holme, Pål Andre; Kenet, Gili; Mancuso, Maria Elisa; Marquardt, Natascha; Nunez, Ramiro; Pabinger, Ingrid; Rodgers, Ryan; Valk, Paul van der; Yuste, Victor Jimenez; Zupan, Irena Preložnik (Wiley-Blackwell, 2023-01)
    INTRODUCTION: As people with haemophilia (PWH) receive better treatment and live longer they are more likely to encounter cardiovascular disease (CVD) and other comorbidities. ESC guidelines for the acute management of ...
  • Improving prediction of response to neoadjuvant treatment in patients with breast cancer by combining liquid biopsies with multiparametric MRI: Protocol of the LIMA study-a multicentre prospective observational cohort study 
    Janssen, Liselore M.; Suelmann, Britt B.M.; Elias, Sjoerd G.; Janse, Markus H.A.; Van Diest, Paul J.; Van Der Wall, Elsken; Gilhuijs, Kenneth G.A. (BMJ Publishing Group, 2022-09-20)
    Introduction The response to neoadjuvant chemotherapy (NAC) in breast cancer has important prognostic implications. Dynamic prediction of tumour regression by NAC may allow for adaption of the treatment plan before completion, ...
  • MRI to assess response after neoadjuvant chemotherapy in breast cancer subtypes: a systematic review and meta-analysis 
    Janssen, L. M.; den Dekker, B. M.; Gilhuijs, K. G.A.; van Diest, P. J.; van der Wall, E.; Elias, S. G. (Elsevier, 2022-09-19)
    This meta-analysis aimed to estimate and compare sensitivity, specificity, positive- (PPV) and negative predictive value (NPV) of magnetic resonance imaging (MRI) for predicting pathological complete remission (pCR) after ...
  • Reliability of the HEART-score in the prehospital setting using point-of-care troponin 
    van der Waarden, Nancy W P L; Schotting, Bob; Royaards, Kees-Jan; Vlachojannis, Georgios; Backus, Barbra E (Lippincott Williams and Wilkins Ltd., 2022-12-01)
  • The potential value of observational studies of elective surgical interventions using routinely collected data 
    Ochen, Yassine; Gademan, Maaike Gj; Nelissen, Rob Ghh; Poolman, Rudolf W; Leenen, Luke pH; Houwert, R Marijn; Groenwold, Rolf Hh (Elsevier, 2022-12-01)
    PURPOSE: To assess the apparent validity of observational studies of elective arthroplasty interventions. METHODS: Data from the nationwide Dutch Arthroplasty Register were used. The first case study compared surgical ...