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UMC Repository: Recent submissions

  • Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy. 
    de Frutos, Fernando; Ochoa, Juan Pablo; Webster, Gregory; Jansen, Mark; Remior, Paloma; Rasmussen, Torsten B; Sabater-Molina, Maria; Barriales-Villa, Roberto; Girolami, Francesca; Cesar, Sergi; Fuentes-Cañamero, M Eugenia; Alvarez García-Rovés, Reyes; Wahbi, Karim; Limeres, Javier; Kubanek, Milos; Slieker, Martijn G; Sarquella-Brugada, Georgia; Abrams, Dominic J; Dooijes, Dennis; Domínguez, Fernando; Garcia-Pavia, Pablo; European Genetic Cardiomyopathies Initiative Investigators (Wiley-Blackwell, 2024-11-05)
    BACKGROUND: Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, ...
  • EASL Clinical Practice Guidelines on genetic cholestatic liver diseases 
    European Association for the Study of the Liver (Elsevier, 2024-08)
    Genetic cholestatic liver diseases are caused by (often rare) mutations in a multitude of different genes. While these diseases differ in pathobiology, clinical presentation and prognosis, they do have several commonalities ...
  • The Current State of Robot-Assisted Minimally Invasive Esophagectomy (RAMIE): Outcomes from the Upper GI International Robotic Association (UGIRA) Esophageal Registry 
    Kooij, Cezanne D; de Jongh, Cas; Kingma, B Feike; van Berge Henegouwen, Mark I; Gisbertz, Suzanne S; Chao, Yin-Kai; Chiu, Philip W; Rouanet, Philippe; Mourregot, Anne; Immanuel, Arul; Mala, Tom; van Boxel, Gijs I; Carter, Nicholas C; Li, Hecheng; Fuchs, Hans F; Bruns, Christiane J; Giacopuzzi, Simone; Kalff, Jörg C; Hölzen, Jens-Peter; Juratli, Mazen A; Benedix, Frank; Lorenz, Eric; Egberts, Jan-Hendrik; Haveman, Jan W; van Etten, Boudewijn; Müller, Beat P; Grimminger, Peter P; Berlth, Felix; Piessen, Guillaume; van den Berg, Jan W; Milone, Marco; Luketich, James D; Sarkaria, Inderpal S; Sallum, Rubens A A; van Det, Marc J; Kouwenhoven, Ewout A; Brüwer, Matthias; Harustiak, Tomas; Kinoshita, Takahiro; Fujita, Takeo; Daiko, Hiroyuki; Li, Zhigang; Ruurda, Jelle P; van Hillegersberg, Richard; UGIRA Study Group (Springer New York, 2025)
    BACKGROUND: Robot-assisted minimally invasive esophagectomy (RAMIE) is increasingly adopted in centers worldwide, with ongoing refinements to enhance results. This study aims to assess the current state of RAMIE worldwide ...
  • The lysosomal lipid transporter LIMP-2/SCARB2 is part of lysosome-endoplasmic reticulum STARD3-VAPB-dependent contact sites 
    Rudnik, Sönke; Heybrock, Saskia; Coyaud, Etienne; Xu, Zizhen; Neculai, Dante; Raught, Brian; Oorschot, Viola; Heus, Cecilia; Klumperman, Judith; Saftig, Paul (Company of Biologists Ltd, 2024-11-15)
    SCARB2/LIMP-2 is an abundant lysosomal membrane protein. Previous studies have shown LIMP-2 functions as a virus receptor, a chaperone for lysosomal enzyme targeting, and a lipid transporter. The large luminal domain of ...
  • Prediction of individual lifetime cardiovascular risk and potential treatment benefit: Development and recalibration of the LIFE-CVD2 model to four European risk regions 
    Hageman, Steven H.J.; Kaptoge, Stephen; De Vries, Tamar I.; Lu, Wentian; Kist, Janet M.; Van Os, Hendrikus J.A.; Numans, Mattijs E.; Läll, Kristi; Bobak, Martin; Pikhart, Hynek; Kubinova, Ruzena; Malyutina, Sofia; Pająk, Andrzej; Tamosiunas, Abdonas; Erbel, Raimund; Stang, Andreas; Schmidt, Börge; Schramm, Sara; Bolton, Thomas R.; Spackman, Sarah; Bakker, Stephan J.L.; Blaha, Michael; Boer, Jolanda M.A.; Bonnefond, Amélie; Brenner, Hermann; Brunner, Eric J.; Cook, Nancy R.; Davidson, Karina; Dennison, Elaine; Donfrancesco, Chiara; Dörr, Marcus; Floyd, James S.; Ford, Ian; Fu, Michael; Gansevoort, Ron T.; Giampaoli, Simona; Gillum, Richard F.; Gómez-De-La-Cámara, Agustín; Håheim, Lise Lund; Hansson, Per Olof; Harms, Peter; Humphries, Steve E.; Ikram, M. Kamran; Jukema, J. Wouter; Kavousi, Maryam; Kiechl, Stefan; Kucharska-Newton, Anna; Pablos, David Lora; Matsushita, Kunihiro; Meyer, Haakon E.; Moons, Karel G.M.; Mortensen, Martin Bødtker; Muilwijk, Mirthe; Nordestgaard, Børge G.; Packard, Chris; Pamieri, Luigi; Panagiotakos, Demosthenes; Peters, Annette; Potier, Louis; Providencia, Rui; Psaty, Bruce M.; Ridker, Paul M.; Rodriguez, Beatriz; Rosengren, Annika; Sattar, Naveed; Schöttker, Ben; Schwartz, Joseph E.; Shea, Steven; Shipley, Martin J.; Sofat, Reecha; Thorand, Barbara; Verschuren, W. M.Monique; Völzke, Henry; Wareham, Nicholas J.; Westbury, Leo; Willeit, Peter; Zhou, Bin; Danesh, John; Visseren, Frank L.J.; Di Angelantonio, Emanuele; Pennells, Lisa; Dorresteijn, Jannick A.N. (Oxford University Press, 2024-10-01)
    Aims: The 2021 European Society of Cardiology prevention guidelines recommend the use of (lifetime) risk prediction models to aid decisions regarding initiation of prevention. We aimed to update and systematically recalibrate ...
  • A genome-wide association meta-analysis of all-cause and vascular dementia 
    The Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium (John Wiley & Sons Inc., 2024-09)
    INTRODUCTION: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD. ...
  • Instrumented assessment of lower and upper motor neuron signs in amyotrophic lateral sclerosis using robotic manipulation: an explorative study 
    Stikvoort García, D J L; Sleutjes, B T H M; Mugge, W; Plouvier, J J; Goedee, H S; Schouten, A C; van der Helm, F C T; van den Berg, L H (BioMed Central Ltd., 2024-10-29)
    Background: Amyotrophic lateral sclerosis (ALS) is a lethal progressive neurodegenerative disease characterized by upper motor neuron (UMN) and lower motor neuron (LMN) involvement. Their varying degree of involvement ...
  • Learning Analytics Dashboard Design and Evaluation to Support Student Self-Regulation of Study Behaviour 
    de Vreugd, Lars; van Leeuwen, Anouschka; Jansen, Renée; van der Schaaf, Marieke (2024-12-25)
    For university students, self-regulation of study behaviour is important. However, students are not always capable of effective self-regulation. Providing study behaviour information via a learning analytics dashboard (LAD) ...
  • Isogenic Cell Lines Derived from Specific Organ Metastases Exhibit Divergent Cytogenomic Aberrations 
    Winnard, Paul T.; Morsberger, Laura; Yonescu, Raluca; Jiang, Liqun; Zou, Ying S.; Raman, Venu (Multidisciplinary Digital Publishing Institute (MDPI), 2023-03)
    Aneuploidy, a deviation in chromosome numbers from the normal diploid set, is now recognized as a fundamental characteristic of all cancer types and is found in 70–90% of all solid tumors. The majority of aneuploidies are ...
  • Glymphatic-assisted perivascular brain delivery of intrathecal small gold nanoparticles 
    Lilius, Tuomas O.; Mortensen, Kristian Nygaard; Deville, Claire; Lohela, Terhi J.; Stæger, Frederik Filip; Sigurdsson, Björn; Fiordaliso, Elisabetta M.; Rosenholm, Marko; Kamphuis, Chris; Beekman, Freek J.; Jensen, Andreas I.; Nedergaard, Maiken (Elsevier, 2023-03)
    Nanoparticles are ultrafine particulate matter having considerable potential for treatment of central nervous system (CNS) disorders. Despite their tiny size, the blood-brain barrier (BBB) restricts their access to the ...
  • Distinct genetic basis of common epilepsies and structural magnetic resonance imaging measures 
    Stevelink, Remi; Koeleman, Bobby P.C.; Sisodiya, Sanjay M.; International League Against Epilepsy Consortium on Complex Epilepsies (Wiley-Blackwell, 2023-05)
    Focal and generalized epilepsies are associated with robust differences in magnetic resonance imaging (MRI) measures of subcortical structures, gray matter, and white matter. However, it is unknown whether such structural ...
  • OTTERS: a powerful TWAS framework leveraging summary-level reference data 
    Dai, Qile; Zhou, Geyu; Võsa, Urmo; Franke, Lude; Battle, Alexis; Teumer, Alexander; Lehtimäki, Terho; Raitakari, Olli T.; Esko, Tõnu; Deelen, Patrick; eQTLGen Consortium (Nature Publishing Group, 2023-12)
    Most existing TWAS tools require individual-level eQTL reference data and thus are not applicable to summary-level reference eQTL datasets. The development of TWAS methods that can harness summary-level reference data is ...
  • A deep learning-based histopathology classifier for Focal Cortical Dysplasia 
    Vorndran, Jörg; Neuner, Christoph; Coras, Roland; Hoffmann, Lucas; Geffers, Simon; Honke, Jonas; Herms, Jochen; Roeber, Sigrun; Hamer, Hajo; Brandner, Sebastian; Hartlieb, Till; Pieper, Tom; Kudernatsch, Manfred; Bien, Christian G.; Kalbhenn, Thilo; Simon, Matthias; Adle-Biassette, Homa; Cienfuegos, Jesús; Di Giacomo, Roberta; Garbelli, Rita; Miyata, Hajime; Mühlebner, Angelika; Raicevic, Savo; Rauramaa, Tuomas; Rogerio, Fabio; Blümcke, Ingmar; Jabari, Samir (Springer London, 2023-06)
    A light microscopy-based histopathology diagnosis of human brain specimens obtained from epilepsy surgery remains the gold standard to confirm the underlying cause of a patient’s focal epilepsy and further inform postsurgical ...
  • Correction: A disease-specific patient reported outcome instrument for spine trauma is developed, validated and available! Re: Andrzejowski et al. Measuring functional outcomes in major trauma: can we do better? (European Journal of Trauma and Emergency Surgery, (2023), 49, 3, (1605-1606), 10.1007/s00068-022-02167-8) 
    Sadiqi, Said; Oner, F. Cumhur (Springer International Publishing AG, 2023-06)
    The article “A disease‑specific patient reported outcome instrument for spine trauma is developed, validated and available! Re: Andrzejowski et al. Measuring functional outcomes in major trauma: can we do better?”, written ...
  • MALDI-MSI of lipids in a model of breast cancer brain metastasis provides a surrogate measure of ischemia/hypoxia 
    Roux, Aurelie; Winnard, Paul T.; Van Voss, Marise Heerma; Muller, Ludovic; Jackson, Shelley N.; Hoffer, Barry; Woods, Amina S.; Raman, Venu (Springer Netherlands, 2023-11)
    Breast cancer brain metastasis (BCBM) has an incidence of 10–30%. It is incurable and the biological mechanisms that promote its progression remain largely undefined. Consequently, to gain insights into BCBM processes, we ...
  • Health-related quality of life in patients with primary sclerosing cholangitis: A longitudinal population-based cohort study 
    Mol, Bregje; van Munster, Kim N.; Bogaards, Johannes A.; Weersma, Rinse K.; Inderson, Akin; de Groof, E. Joline; Rossen, Noortje G.M.; Ponsioen, Willemijn; Turkenburg, Maud; van Erpecum, Karel J.; Poen, Alexander C.; Spanier, B. W.Marcel; Beuers, Ulrich H.W.; Ponsioen, Cyriel Y.; the EpiPSC2 Study Group (Wiley-Blackwell, 2023-05)
    Background & Aims: Data regarding health-related quality of life (HRQoL) in primary sclerosing cholangitis (PSC) are sparse and have only been studied cross-sectionally in a disease which runs a fluctuating and unpredictable ...
  • How to write a successful grant application: guidance provided by the European Society of Clinical Pharmacy 
    Weidmann, Anita E.; Cadogan, Cathal A.; Fialová, Daniela; Hazen, Ankie; Henman, Martin; Lutters, Monika; Okuyan, Betul; Paudyal, Vibhu; Wirth, Francesca (Springer Netherlands, 2023-06)
    Considering a rejection rate of 80–90%, the preparation of a research grant is often considered a daunting task since it is resource intensive and there is no guarantee of success, even for seasoned researchers. This ...
  • Effects of reduction technique for acute anterior shoulder dislocation without sedation or intra-articular pain management: a systematic review and meta-analysis 
    Baden, D. N.; Visser, M. F.L.; Roetman, M. H.; Smeeing, D. P.J.; Houwert, R. M.; Groenwold, R. H.H.; van der Meijden, O. A.J. (Springer International Publishing AG, 2023-06)
    Introduction: Anterior shoulder dislocations are commonly seen in the emergency department for which several closed reduction techniques exist. The aim of this systematic review is to identify the most successful principle ...
  • Relationship between secondary health conditions and life satisfaction in persons with spinal cord injury: study across twenty-one countries 
    Tasiemski, Tomasz; Kujawa, Jolanta; Tederko, Piotr; Rubinelli, Sara; Middleton, James W.; Craig, Ashley; Post, Marcel W.M. (Springer Netherlands, 2023-07)
    Purpose: To determine the relationships between impact of secondary health conditions (SHCs), treatment of SHCs, and life satisfaction (LS) following spinal cord injury (SCI) across 21 countries. Hypotheses were as follows: ...
  • Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus 
    Mathieson, Iain; Day, Felix R.; Barban, Nicola; Tropf, Felix C.; Brazel, David M.; van Heemst, Diana; Vaez, Ahmad; van Zuydam, Natalie; Bitarello, Bárbara D.; Gardner, Eugene J.; Akimova, Evelina T.; Azad, Ajuna; Bergmann, Sven; Bielak, Lawrence F.; Boomsma, Dorret I.; Bosak, Kristina; Brumat, Marco; Buring, Julie E.; Cesarini, David; Chasman, Daniel I.; Chavarro, Jorge E.; Cocca, Massimiliano; Concas, Maria Pina; Davey Smith, George; Davies, Gail; Deary, Ian J.; Esko, Tõnu; Faul, Jessica D.; Franco, Oscar; Ganna, Andrea; Gaskins, Audrey J.; Gelemanovic, Andrea; de Geus, Eco J.C.; Gieger, Christian; Girotto, Giorgia; Gopinath, Bamini; Grabe, Hans Jörgen; Gunderson, Erica P.; Hayward, Caroline; He, Chunyan; van Heemst, Diana; Hill, W. David; Hoffmann, Eva R.; Homuth, Georg; Hottenga, Jouke Jan; Huang, Hongyang; Hyppӧnen, Elina; Ikram, M. Arfan; Jansen, Rick; Johannesson, Magnus; eQTLGen Consortium; BIOS Consortium; FinnGen Study; LifeLines Cohort Study (Nature Publishing Group, 2023-05)
    Identifying genetic determinants of reproductive success may highlight mechanisms underlying fertility and identify alleles under present-day selection. Using data in 785,604 individuals of European ancestry, we identified ...