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UMC Repository: Recent submissions

  • Diagnosing primary lateral sclerosis: a clinico-pathological study 
    de Boer, Eva M J; de Vries, Bálint S; Van Hecke, Wim; Mühlebner, Angelika; Vincken, Koen L; Mol, Christian P; van Rheenen, Wouter; Westeneng, Henk-Jan; Veldink, Jan H; Höglinger, Günter U; Morris, Huw R; Litvan, Irene; Raaphorst, Joost; Ticozzi, Nicola; Corcia, Philippe; Vandenberghe, Wim; Pijnenburg, Yolande A L; Seelaar, Harro; Ingre, Caroline; Van Damme, Philip; van den Berg, Leonard H; van de Warrenburg, Bart P C; van Es, Michael A (Springer Science and Business Media Deutschland GmbH, 2024-12-12)
    BACKGROUND: Primary lateral sclerosis (PLS) is a rare motor neuron disease characterized by upper motor neuron degeneration, diagnosed clinically due to the absence of a (neuropathological) gold standard. Post-mortem ...
  • Holter Monitoring and Cardiac Biomarkers in Screening for Cardiac Sarcoidosis 
    Bakker, A L M; Mathijssen, H; Huitema, M P; Kapteijns, L; Grutters, J C; Veltkamp, M; Keijsers, R G; Akdim, F; van Es, H W; Peper, J; Post, M C (Springer New York, 2024-12-02)
    INTRODUCTION: Early detection of cardiac sarcoidosis (CS) is crucial due to its association with severe complications such as ventricular arrhythmias, heart failure, and sudden cardiac death. Advanced imaging techniques ...
  • Applying a systems perspective to understand the health effects of holistic housing renovation in a deprived neighbourhood in the Netherlands: Development of a causal loop diagram 
    Koops-Van Hoffen, H. E.; Kamphuis, C. B.M.; Vendrig-De Punder, Y. M.R.; Jambroes, M.; Van Lenthe, F. J. (Elsevier Limited, 2025-03)
    Whereas ‘systems thinking’ rapidly becomes popular in public health, and whereas many housing interventions have been evaluated in ‘traditional ways’, we aim at moving the field further by describing the application of a ...
  • Discovering cyclic causal models in psychological research 
    Park, Kyuri; Waldorp, Lourens J; Ryan, Oisin (Advances. in, 2024-04-22)
    Statistical network models have become popular tools for analyzing multivariate psychological data. In empirical practice, network parameters are often interpreted as reflecting causal relationships – an approach that can ...
  • The impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: a Mendelian randomization study 
    Borges, Maria Carolina; Haycock, Phillip; Zheng, Jie; Hemani, Gibran; Howe, Laurence J.; Schmidt, A. Floriaan; Staley, James R.; Lumbers, R. Thomas; Henry, Albert; Lemaitre, Rozenn N.; Gaunt, Tom R.; Holmes, Michael V.; Smith, George Davey; Hingorani, Aroon D.; Lawlor, Deborah A. (Oxford University Press, 2022-12-01)
    Despite early interest, the evidence linking fatty acids to cardiovascular diseases (CVDs) remains controversial. We used Mendelian randomization to explore the involvement of polyunsaturated (PUFA) and monounsaturated ...
  • Quantifying the spatial distribution of the accumulated dose uncertainty using the novel delta index 
    van den Dobbelsteen, Madelon; Hackett, Sara L; Bosma, Lando S; van Doormaal, Renate J A; van Asselen, Bram; Fast, Martin F (IOP Publishing Ltd., 2024-12-24)
    Objective.Inter- and intra-fractional anatomical changes during a radiotherapy treatment can cause differences between the initially planned dose and the delivered dose. The total delivered dose can be accumulated over all ...
  • The 'Treg paradox' in inflammatory arthritis. 
    Schnell, Julia T; Briviesca, Raquel Laza; Kim, Taehyeung; Charbonnier, Louis-Marie; Henderson, Lauren A; van Wijk, Femke; Nigrovic, Peter A (Nature Research, 2025-01)
    Classic regulatory T (T reg) cells expressing CD4 and the hallmark transcription factor FOXP3 are integral to the prevention of multi-system autoimmunity. However, immune-mediated arthritis is often associated with increased ...
  • Artificial Intelligence Advancements in Cardiomyopathies: Implications for Diagnosis and Management of Arrhythmogenic Cardiomyopathy 
    Salavati, Arman; van der Wilt, C Nina; Calore, Martina; van Es, René; Rampazzo, Alessandra; van der Harst, Pim; van Steenbeek, Frank G; van Tintelen, J Peter; Harakalova, Magdalena; Te Riele, Anneline S J M (Current Science, Inc., 2024-12-11)
    Purpose of Review: This review aims to explore the emerging potential of artificial intelligence (AI) in refining risk prediction, clinical diagnosis, and treatment stratification for cardiomyopathies, with a specific ...
  • A Systematic Review on Long-Term Postsurgical Pain Outcomes; What Is the Effect of Upper Extremity Regional Anesthesia? 
    Droog, Wouter; Walbeehm, Erik T.; Konijn, Julia B.; Lucas, Benthe M.J.; Coert, J. Henk; Stolker, Robert Jan; Galvin, Eilish M. (Lippincott Williams & Wilkins, 2023-08-01)
    BACKGROUND: Chronic pain is a recognized complication of surgery, and it has been hypothesized that regional anesthesia might reduce the risk of development of chronic pain after upper extremity surgery. METHODS: A systematic ...
  • Points to consider: EULAR-UEMS standards for the training of European rheumatologists 
    Alunno, Alessia; Avcin, Tadej; Haines, Catherine; Ramiro, Sofia; Sivera, Francisca; Badreh, Sara; Baraliakos, Xenofon; Bijlsma, Johannes W.J.; Buttgereit, Frank; Chaudhuri, Kaushik; Da Silva, Jose A.P.; Dudler, Jean; Ferreira, Ricardo J.O.; Gudu, Tania; Hachulla, Eric; Holland-Fischer, Mette; Iagnocco, Annamaria; Kragstrup, Tue Wenzel; Nagy, György; Romão, Vasco C.; Stones, Simon R.; Van Onna, Marloes; Edwards, Christopher J. (Elsevier, 2023-08-01)
    Background Postgraduate rheumatology training programmes are already established at a national level in most European countries. However, previous work has highlighted a substantial level of heterogeneity in the organisation ...
  • Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids 
    Dirkx, N.; Weuring, Wout J.; De Vriendt, E.; Smal, N.; van de Vondervoort, J.; van ’t Slot, Ruben; Koetsier, M.; Zonnekein, N.; De Pooter, Tim; Weckhuysen, S.; Koeleman, B. P.C. (BioMed Central Ltd., 2023-12)
    Background: Prime editing (PE) is the most recent gene editing technology able to introduce targeted alterations to the genome, including single base pair changes, small insertions, and deletions. Several improvements to ...
  • Determining the clinical and cost-effectiveness of nasal sprays and a physical activity and stress management intervention to reduce respiratory tract infections in primary care: A protocol for the 'Immune Defence' randomised controlled trial 
    Vennik, Jane; Geraghty, Adam W.A.; Martinson, Kate; Yardley, Lucy; Stuart, Beth; Moore, Michael; Francis, Nick; Hay, Alastair; Verheij, Theo; Bradbury, Katherine; Greenwell, Kate; Dennison, Laura; Williamson, Sian; Denison-Day, James; Ainsworth, Ben; Raftery, James; Zhu, Shihua; Butler, Christopher; Richards-Hall, Samantha; Little, Paul (Public Library of Science, 2023-07)
    Background Most adults in the UK experience at least one viral respiratory tract infection (RTI) per year. Individuals with comorbidities and those with recurrent RTIs are at higher risk of infections. This can lead to ...
  • Synthetic Attenuation Correction Maps for SPECT Imaging Using Deep Learning: A Study on Myocardial Perfusion Imaging 
    Prieto Canalejo, Mariana Andrea; Palau San Pedro, Aley; Geronazzo, Ricardo; Minsky, Daniel Mauricio; Juárez-Orozco, Luis Eduardo; Namías, Mauro (MDPI AG, 2023-07)
    (1) Background: The CT-based attenuation correction of SPECT images is essential for obtaining accurate quantitative images in cardiovascular imaging. However, there are still many SPECT cameras without associated CT ...
  • Deep margin elevation: A case report study 
    Bresser, Rijkje A.; Naves, Lucas Z.; van der Made, Stephan A.M.; Cune, Marco S.; Gresnigt, Marco M.M. (Quintessenz Verlags GmbH, 2023-06)
    Deep subgingival margins are a much-debated topic in adhesive and restorative dentistry. The hydrophobic trait of direct composite resin materials challenges the restorative procedure of cavities with deep subgingival ...
  • Clinical Characteristics and Outcomes of Patients with Cutibacterium acnes Endocarditis 
    Heinen, Floris J.; Arregle, Florent; Van Den Brink, Floris S.; Ajmone Marsan, Nina; Bernts, Lucas; Houthuizen, Patrick; Kamp, Otto; Roescher, Nienke; Timmermans, Naomi; Verkaik, Nelianne; Roos-Hesselink, Jolien; Post, Marco C.; Habib, Gilbert; Tanis, Wilco (American Medical Association, 2023-07-12)
    Importance: It is suggested that patients with Cutibacterium acnes endocarditis often present without fever or abnormal inflammatory markers. However, no study has yet confirmed this statement. Objective: To assess the ...
  • IgG N-glycans are associated with prevalent and incident complications of type 2 diabetes 
    Memarian, Elham; Heijmans, Ralph; Slieker, Roderick C.; Sierra, Adriana; Gornik, Olga; Beulens, Joline W.J.; Hanic, Maja; Elders, Petra; Pascual, Julio; Sijbrands, Eric; Lauc, Gordan; Dotz, Viktoria; Barrios, Clara; ’t Hart, Leen M.; Wuhrer, Manfred; van Hoek, Mandy (John Wiley & Sons Inc., 2023-10)
    Aims/Hypothesis: Inflammation is important in the development of type 2 diabetes complications. The N-glycosylation of IgG influences its role in inflammation. To date, the association of plasma IgG N-glycosylation with ...
  • Mitochondrial dysfunction in human hypertrophic cardiomyopathy is linked to cardiomyocyte architecture disruption and corrected by improving NADH-driven mitochondrial respiration 
    Nollet, Edgar E.; Duursma, Inez; Rozenbaum, Anastasiya; Eggelbusch, Moritz; Wüst, Rob C.I.; Schoonvelde, Stephan A.C.; Michels, Michelle; Jansen, Mark; Van Der Wel, Nicole N.; Bedi, Kenneth C.; Margulies, Kenneth B.; Nirschl, Jeff; Kuster, Diederik W.D.; Van Der Velden, Jolanda (Oxford University Press, 2023-04-01)
    Aims: Genetic hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere protein-encoding genes (i.e. genotype-positive HCM). In an increasing number of patients, HCM occurs in the absence of a mutation (i.e. ...
  • Thoracic endovascular aortic repair of metachronous thoracic aortic aneurysms following prior infrarenal abdominal aortic aneurysm repair 
    Yadavalli, Sai Divya; Wu, Winona W.; Rastogi, Vinamr; Gomez-Mayorga, Jorge L.; Solomon, Yoel; Jones, Douglas W.; Scali, Salvatore T.; Verhagen, Hence J.M.; Schermerhorn, Marc L. (Mosby Inc., 2023-09)
    Objective: Thoracic endovascular aortic repair (TEVAR) of metachronous thoracic aortic aneurysms (M-TAAs) following previous infrarenal abdominal aortic aneurysm (AAA) repair has been associated with higher spinal cord ...
  • Antibiotics for lower respiratory tract infection in children presenting in primary care: ARTIC-PC RCT 
    Little, Paul; Francis, Nick A.; Stuart, Beth; O’reilly, Gilly; Thompson, Natalie; Becque, Taeko; D Hay, Alastair; Wang, Kay; Sharland, Michael; Harnden, Anthony; Yao, Guiqing; Raftery, James; Zhu, Shihua; Little, Joseph; Hookham, Charlotte; Rowley, Kate; Euden, Joanne; Harman, Kim; Coenen, Samuel; Read, Robert C.; Woods, Catherine; Butler, Christopher C.; Faust, Saul N.; Leydon, Geraldine; Wan, Mandy; Hood, Kerenza; Whitehurst, Jane; Richards-Hall, Samantha; Smith, Peter; Thomas, Michael; Moore, Michael; Verheij, Theo (NIHR Journals Library, 2023)
    Background: Antimicrobial resistance is a global health threat. Antibiotics are commonly prescribed for children with uncomplicated lower respiratory tract infections, but there is little randomised evidence to support the ...
  • Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation 
    Kok, Gautam; Schene, Imre F; Ilcken, Eveline F; Alcaraz, Paula Sobrevals; Mendes, Marisa I; Smith, Desiree E C; Salomons, Gajja; Shehata, Sawsan; Jans, Judith J M; Maroofian, Reza; Hoek, Tim A; van Es, Robert M; Rehmann, Holger; Nieuwenhuis, Edward E S; Vos, Harmjan R; Fuchs, Sabine A (Oxford University Press, 2025-01-13)
    Aminoacyl-tRNA synthetases (ARSs) couple tRNAs with their corresponding amino acids. While ARSs can bind structurally similar amino acids, extreme specificity is ensured by subsequent editing activity. Yet, we found that ...