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UMC Repository: Recent submissions

  • KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia 
    Pennings, Maartje; Schouten, Meyke I.; van Gaalen, Judith; Meijer, Rowdy P.P.; de Bot, Susanne T.; Kriek, Marjolein; Saris, Christiaan G.J.; van den Berg, Leonard H.; van Es, Michael A.; Zuidgeest, Dick M.H.; Elting, Mariet W.; van de Kamp, Jiddeke M.; van Spaendonck-Zwarts, Karin Y.; Die-Smulders, Christine de; Brilstra, Eva H.; Verschuuren, Corien C.; de Vries, Bert B.A.; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A.; Jaeger, B.; Schieving, Jolanda H.; van de Warrenburg, Bart P.; Kamsteeg, Erik Jan (Springer Nature, 2020-01)
    Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9. More recently, variants in KIF1A ...
  • Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR 
    Euro-MOTOR Consortium (BMJ Publishing Group, 2020-01)
    Background We investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case-control studies and explored the independent effects of ...
  • Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report 
    Elliott, Perry M.; Anastasakis, Aris; Asimaki, Angeliki; Basso, Cristina; Bauce, Barbara; Brooke, Matthew A.; Calkins, Hugh; Corrado, Domenico; Duru, Firat; Green, Kathleen J.; Judge, Daniel P.; Kelsell, David; Lambiase, Pier D.; McKenna, William J.; Pilichou, Kalliopi; Protonotarios, Alexandros; Saffitz, Jeffrey E.; Syrris, Petros; Tandri, Hari; Te Riele, Anneline; Thiene, Gaetano; Tsatsopoulou, Adalena; van Tintelen, J. Peter (Oxford University Press, 2019-08)
    It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 years since the first reports establishing desmosomal gene mutations as a major cause of the disease. ...
  • Optimizing design of research to evaluate antibiotic stewardship interventions: consensus recommendations of a multinational working group 
    Joint Programming Initiative on Antimicrobial Resistance (JPIAMR) Working Group on Design of Antimicrobial Stewardship Evaluations (Elsevier, 2020-01)
    Background: Antimicrobial stewardship interventions and programmes aim to ensure effective treatment while minimizing antimicrobial-associated harms including resistance. Practice in this vital area is undermined by the ...
  • The adverse effect of gradient nonlinearities on diffusion MRI: From voxels to group studies 
    Mesri, Hamed Y.; David, Szabolcs; Viergever, Max A.; Leemans, Alexander (Academic Press Inc., 2020-01-15)
    Nonlinearities of gradient magnetic fields in diffusion MRI (dMRI) can introduce systematic errors in estimates of diffusion measures. While there are correction methods that can compensate for these errors, as presented ...
  • Use of illicit substances and violent behaviour in psychotic disorders: two nationwide case-control studies and meta-analyses 
    GROUP and NEDEN investigators (Cambridge University Press, 2020-09)
    BACKGROUND: Substance use disorder explains much of the excess risk of violent behaviour in psychotic disorders. However, it is unclear to what extent the pharmacological properties and subthreshold use of illicit substances ...
  • Death after hematopoietic stem cell transplantation: changes over calendar year time, infections and associated factors 
    Infectious Diseases Working Party EBMT (Springer Nature, 2020-01)
    Information on incidence, and factors associated with mortality is a prerequisite to improve outcome after hematopoietic stem cell transplantation (HSCT). Therefore, 55'668 deaths in 114'491 patients with HSCT (83.7% ...
  • Pathological responses to single pulse electrical stimuli in epilepsy: the role of feedforward inhibition 
    Hebbink, Jurgen; Huiskamp, Geertjan; van Gils, Stephan A; Leijten, Frans S S; Meijer, Hil G E (Wiley-Blackwell, 2020-02-01)
    Delineation of epileptogenic cortex in focal epilepsy patients may profit from single-pulse electrical stimulation during intracranial EEG recordings. Single-pulse electrical stimulation evokes early and delayed responses. ...
  • Food Allergy in Adults: Substantial Variation in Prevalence and Causative Foods Across Europe 
    Lyons, Sarah A.; Burney, Peter G.J.; Ballmer-Weber, Barbara K.; Fernandez-Rivas, Montserrat; Barreales, L.; Clausen, Michael; Dubakiene, Ruta; Fernandez-Perez, Cristina; Fritsche, Philipp; Jedrzejczak-Czechowicz, Monika; Kowalski, Marek L.; Kralimarkova, T.; Kummeling, I.; Mustakov, Tihomir B.; Lebens, Ans F.M.; van Os-Medendorp, Harmieke; Papadopoulos, Nikolaos G.; Popov, Todor A.; Sakellariou, Alexandros; Welsing, Paco M.J.; Potts, J.; Mills, E. N.Clare; van Ree, Ronald; Knulst, André C.; Le, Thuy My (Elsevier, 2019-07-01)
    Background: According to the community-based EuroPrevall surveys, prevalence of self-reported food allergy (FA) in adults across Europe ranges from 2% to 37% for any food and 1% to 19% for 24 selected foods. Objective: To ...
  • Preclinical Feasibility of the Bio-Airbrush for Arthroscopic Cell-Based Cartilage Repair 
    Dijkstra, Koen; Huitsing, Roeland P J; Custers, Roel J H; Kouwenhoven, Jan Willem M; Bleys, Ronald L A W; Vonk, Lucienne A; Saris, Daniël B F (Mary Ann Liebert Inc., 2019-07)
    Objective: To investigate the preclinical feasibility of using bio-airbrush technology for the fully arthroscopic treatment of cartilage defects with a combination of cells and biomaterials. Design: A combination of in ...
  • Wnt Signaling Directs Neuronal Polarity and Axonal Growth 
    Stanganello, Eliana; Zahavi, Eitan Erez; Burute, Mithila; Smits, Jasper; Jordens, Ingrid; Maurice, Madelon M.; Kapitein, Lukas C.; Hoogenraad, Casper C. (Elsevier, 2019-03-29)
    The establishment of neuronal polarity is driven by cytoskeletal remodeling that stabilizes and promotes the growth of a single axon from one of the multiple neurites. The importance of the local microtubule stabilization ...
  • Update on Neuroendocrine Carcinomas of the Larynx 
    Strosberg, Carolina; Ferlito, Alfio; Triantafyllou, Asterios; Gnepp, Douglas R; Bishop, Justin A; Hellquist, Henrik; Strojan, Primoz; Willems, Stefan M; Stenman, Göran; Rinaldo, Alessandra; Hernandez-Prera, Juan C (24150509, 2019-12)
    OBJECTIVES: Laryngeal neuroendocrine carcinomas are heterogeneous neoplasms characterized by neuroendocrine differentiation. Their prognoses are dependent on tumor type, therefore different classifications have been ...
  • Characterization of endothelial and smooth muscle cells from different canine vessels 
    Oosterhoff, Loes A.; Kruitwagen, Hedwig S.; Van Wolferen, Monique E.; Van Balkom, Bas W.M.; Mokry, Michal; Lansu, Nico; Lansu, NR; Van Den Dungen, Noortje A.M.; Penning, Louis C.; Spanjersberg, Talitha C.F.; De Graaf, Johannes W.; Veenendaal, Tomas; Zomerdijk, Flin; Fledderus, Joost O.; Spee, Bart; Van Steenbeek, Frank G. (Frontiers Research Foundation, 2019-01-01)
    Vasculature performs a critical function in tissue homeostasis, supply of oxygen and nutrients, and the removal of metabolic waste products. Vascular problems are implicated in a large variety of pathologies and accurate ...
  • Association Between Indefinite Dysplasia and Advanced Neoplasia in Patients With Inflammatory Bowel Diseases Undergoing Surveillance 
    Mahmoud, Remi; Shah, Shailja C; Torres, Joana; Castaneda, Daniel; Glass, Jason; Elman, Jordan; Kumar, Akash; Axelrad, Jordan; Harpaz, Noam; Ullman, Thomas; Colombel, Jean-Frédéric; Oldenburg, Bas; Itzkowitz, Steven H (W.B. Saunders, 2020-06)
    BACKGROUND & AIMS: Little is known about the clinical significance of indefinite dysplasia (IND) in patients with inflammatory bowel diseases (IBD) undergoing colonoscopic surveillance for colorectal neoplasia. METHODS: ...
  • The effects of topical antibiotics on eradication and acquisition of third-generation cephalosporin and carbapenem-resistant Gram-negative bacteria in ICU patients; a post hoc analysis from a multicentre cluster-randomized trial 
    R-GNOSIS ICU study group (Elsevier, 2020-04)
    Objectives: The aim was to quantify the effects of selective digestive tract decontamination (SDD) consisting of a mouth paste and gastro-enteral suspension, selective oropharyngeal decontamination with a mouth paste (SOD) ...
  • Serious Games as Potential Therapies: A Validation Study of a Neurofeedback Game 
    Coenen, Femke; Scheepers, Floortje E.; Palmen, Saskia J. M.; de Jonge, Maretha, V; Oranje, Bob (SAGE Publications Inc., 2020-03-01)
    Serious (biofeedback) games offer promising ways to supplement or replace more expensive face-to-face interventions in health care. However, studies on the validity and effectiveness of EEG-based serious games remain scarce. ...
  • Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder 
    Berendse, Kevin; Koot, Bart G.P.; Klouwer, Femke C.C.; Engelen, Marc; Roels, Frank; Lacle, Miangela M.; Nikkels, Peter G.J.; Verheij, Joanne; Poll-The, Bwee Tien (Springer Netherlands, 2019-09-01)
    Patients with a Zellweger spectrum disorder (ZSD) have a defect in the assembly or maintenance of peroxisomes, leading to a multisystem disease with variable outcome. Liver disease is an important feature in patients with ...
  • Is chest imaging relevant in diagnosing acute respiratory distress syndrome in polytrauma patients? A population-based cohort study 
    van Wessem, Karlijn Julia Patricia; Leenen, Luke Petrus Hendrikus (Springer International Publishing AG, 2020-12)
    PURPOSE: The definition of acute respiratory distress syndrome (ARDS) has often been modified with Berlin criteria being the most recent. ARDS is divided into three categories based on the degree of hypoxemia using PaO ...
  • Shifting Patterns in Co-regulation, Feedback Perception, and Motivation During Research Supervision Meetings 
    Agricola, Bas; van der Schaaf, Marieke; Prins, Frans J.; van Tartwijk, Jan (Routledge, 2020-11-09)
    Supervision meetings give teachers and students opportunities to interact with each other and to co-regulate students’ learning processes. Coregulation refers to the transitional process of a student who is becoming a ...
  • PLK1 plays dual roles in centralspindlin regulation during cytokinesis 
    Adriaans, Ingrid E; Basant, Angika; Ponsioen, Bas; Glotzer, Michael; Lens, Susanne M A (Rockefeller University Press, 2019-04-01)
    Cytokinesis begins upon anaphase onset. An early step involves local activation of the small GTPase RhoA, which triggers assembly of an actomyosin-based contractile ring at the equatorial cortex. Here, we delineated the ...