Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Epidemiology and Age-Related Mortality in Critically Ill Patients With Intra-Abdominal Infection or Sepsis: An International Cohort Study 
    Abdominal Sepsis Study (AbSeS) group on behalf of the Trials Group of the European Society of Intensive Care Medicine (Elsevier, 2022-07)
    Objective: To describe epidemiology and age-related mortality in critically ill older adults with intra-abdominal infection. Methods: A secondary analysis was undertaken of a prospective, multi-national, observational study ...
  • The Added Value of the “Co” in Co-Culture Systems in Research on Osteoarthritis Pathology and Treatment Development 
    Muenzebrock, Katrin Agnes; Kersten, Valerie; Alblas, Jacqueline; Creemers, Laura B (Frontiers Media S. A., 2022-03-03)
    Osteoarthritis (OA) is a highly prevalent disease and a major health burden. Its development and progression are influenced by factors such as age, obesity or joint overuse. As a whole organ disease OA affects not only ...
  • Antibiotic use from formal and informal healthcare providers in the Democratic Republic of Congo: a population-based study in two health zones 
    Ingelbeen, Brecht; Phanzu, Delphin M; Phoba, Marie-France; Budiongo, Mi Yn; Berhe, Neamin M; Kamba, Frédéric K; Kalonji, Lisette; Mbangi, Bijou; Hardy, Liselotte; Tack, Bieke; Im, Justin; Heyerdahl, Leonardo W; Da Luz, Raquel Inocencio; Bonten, Marc Jm; Lunguya, Octavie; Jacobs, Jan; Mbala, Placide; van der Sande, Marianne Ab (Elsevier, 2022-09)
    Objective: In the Democratic Republic of Congo and other low-resource countries, community-acquired pathogens are increasingly resistant to most locally available antibiotics. To guide efforts to optimize antibiotic use ...
  • Utilizing in vitro drug release assays to predict in vivo drug retention in micelles 
    Varela-Moreira, Aida; van Leur, Heleen; Krijgsman, Danielle; Ecker, Veronika; Braun, Martina; Buchner, Maike; Fens, Marcel H A M; Hennink, Wim E; Schiffelers, Raymond M (Elsevier, 2022-04-25)
    In the present work, we aim at developing an in vitro release assay to predict circulation times of hydrophobic drugs loaded into polymeric micelles (PM), upon intravenous (i.v.) administration. PM based on poly (ethylene ...
  • A robust post-insertion method for the preparation of targeted siRNA LNPs 
    Swart, L E; Koekman, C A; Seinen, C W; Issa, H; Rasouli, M; Schiffelers, R M; Heidenreich, O (Elsevier, 2022-05-25)
    Targeted delivery of nucleic acids is gaining momentum due to improved efficacy, selectivity, increased circulation time and enhanced tissue retention in target cells. Using nucleic acid-based therapies previously undruggable ...
  • ‘This battle, between your gut feeling and your mind. Try to find the right balance’: Parental experiences of children with spinal muscular atrophy during COVID-19 pandemic 
    Lansink, I L B Oude; van Stam, P C C; Schafrat, E C W M; Mocking, M; Prins, S D; Beelen, A; Cuppen, I; van der Pol, W-L; Gorter, J W; Ketelaar, M (Wiley-Blackwell, 2022-11)
    Aims: Parents of children with spinal muscular atrophy (SMA) often struggle with the all-consuming nature of the demands of caring for a child with substantial physical needs. Our aim was to explore experiences, challenges ...
  • Short-term effect of air stacking and mechanical insufflation-exsufflation on lung function in patients with neuromuscular diseases 
    Veldhoen, Esther S; Vercoelen, Femke; Ros, Leandra; Verweij-van den Oudenrijn, Laura P; Wösten-van Asperen, Roelie M; Hulzebos, Erik Hj; Bartels, Bart; Gaytant, Michael A; van der Ent, Kors; Ludo van der Pol, W (SAGE Publications Ltd, 2022-04-21)
    Air stacking (AS) and mechanical insufflation-exsufflation (MI-E) aim to increase cough efficacy by augmenting inspiratory lung volumes in patients with neuromuscular diseases (NMDs). We studied the short-term effect of ...
  • Oscillometry: a substitute of spirometry in children with neuromuscular diseases? 
    Veldhoen, Esther S; Roos, Johan H; Bekkema, Rolien; Ludo van der Pol, W; Tinnevelt, Marcel H B; Verweij-van den Oudenrijn, Laura P; Wösten-van Asperen, Roelie M; Hulzebos, Erik H J; Wijngaarde, Camiel A; Kors van der Ent, C (John Wiley & Sons Inc., 2022-07)
    Introduction: Spirometry plays an important role in the assessment of possible respiratory failure in children with neuromuscular diseases (NMDs). However, obtaining reliable spirometry results is a major challenge. We ...
  • Early intervention service systems for youth mental health: integrating pluripotentiality, clinical staging, and transdiagnostic lessons from early psychosis 
    Shah, Jai L; Jones, Nev; van Os, Jim; McGorry, Patrick D; Gülöksüz, Sinan (Elsevier Limited, 2022-05)
    Challenges associated with operationalising services for the at-risk mental state for psychosis solely in that same diagnostic silo are increasingly well recognised-namely, the differential risk for psychosis being a ...
  • Antipsychotica rationeel voorschrijven: de echte wereld als relevante informatiebron 
    Luykx, J J (Uitgeverij Boom, 2022)
  • Schizophrenia and Bipolar Polygenic Risk Scores in Relation to Intracranial Volume 
    de Zwarte, Sonja M C; Brouwer, Rachel M; Kahn, René S; van Haren, Neeltje E M (Multidisciplinary Digital Publishing Institute (MDPI), 2022-04-14)
    Schizophrenia and bipolar disorder are neurodevelopmental disorders with overlapping symptoms and a shared genetic background. Deviations in intracranial volume (ICV)—a marker for neurodevelopment—differ between schizophrenia ...
  • Longitudinal Motor-Developmental Outcomes in Infants with a Critical Congenital Heart Defect 
    Sprong, Maaike C A; van Brussel, Marco; de Vries, Linda S; van der Net, Janjaap; Nijman, Joppe; Breur, Johannes M P J; Slieker, Martijn G (MDPI AG, 2022-04-16)
    Infants with critical congenital heart defects (CCHDs) are at increased risk for neurodevelopmental delays. The early identification of motor delays is clinically relevant to prevent or reduce long-term consequences. The ...
  • Genotype-phenotype correlations of KIF5A stalk domain variants 
    de Boer, Eva M J; van Rheenen, Wouter; Goedee, H Stephan; Kamsteeg, Erik-Jan; Brilstra, Eva H; Veldink, Jan H; van Den Berg, Leonard H; van Es, Michael A (Informa Healthcare, 2021-11)
    The kinesin family member 5A (KIF5A) motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (CMT2), while KIF5A tail variants predispose to amyotrophic lateral ...
  • Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy 
    Vlaskamp, Danique R M; Rump, Patrick; Callenbach, Petra M C; Brilstra, Eva H; Velthuizen, Mary E; Brouwer, Oebele F; Ranchor, Adelita V; van Ravenswaaij-Arts, Conny M A (W.B. Saunders Ltd, 2021-05)
    Genetic testing and counselling are increasingly important in epilepsy care, aiming at finding a diagnosis, understanding aetiology and improving treatment and outcome. The psychological impact of genetic counselling from ...
  • Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy 
    Undiagnosed Diseases Network (UDN) (John Wiley & Sons Inc., 2021-08)
    OBJECTIVE: The MAST family of microtubule-associated serine-threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated ...
  • PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum 
    PURA study group (Lippincott Williams & Wilkins, 2021-12)
    Background and Objectives: Purine-rich element-binding protein A (PURA) gene encodes Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a PURA syndrome characterized by intellectual ...
  • De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability 
    Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E M; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F; Michaud, Jacques L; Lewis, Ann J; Zweier, Christiane; Reis, André; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen; Brilstra, Eva H; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H; Rudy, Natasha L; Dobyns, William B; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A; Alembik, Yves; Durand, Benjamin; Tran Mau-Them, Frederic; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T; Klee, Eric W; Piton, Amelie; Gerard, Benedicte (BMJ Publishing Group, 2022-10)
    Background High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). Methods This study describes the molecular and clinical characterisation of ...
  • Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies 
    Brunklaus, Andreas; Pérez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Møller, Rikke S; Nabbout, Rima; Regan, Brigid M; Schneider, Amy L; Scheffer, Ingrid E; Schoonjans, An-Sofie; Symonds, Joseph D; Weckhuysen, Sarah; Kattan, Michael W; Zuberi, Sameer M; Lal, Dennis (Lippincott Williams & Wilkins, 2022-03-15)
    Background and Objectives Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood ...
  • HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia 
    O'Donohue, Marie-Françoise; Da Costa, Lydie M; Lezzerini, Marco; Unal, Sule; Joret, Clément; Bartels, Marije; Brilstra, Eva; Scheijde-Vermeulen, Marijn; Wacheul, Ludivine; De Keersmaecker, Kim; Vereecke, Stijn; Labarque, Veerle; Saby, Manon Juliette; LeFevre, Sophie D; Platon, Jessica; Montel-Lehry, Nathalie; Laugero, Nathalie; Lacazette, Eric; van Gassen, Koen; Houtkooper, Riekelt H; Simsek-Kiper, Pelin Ozlem; Leblanc, Thierry M; Yarali, Nese; Cetinkaya, Arda; Akarsu, Nurten A; Gleizes, Pierre-Emmanuel; Lafontaine, Denis L J; MacInnes, Alyson W (Elsevier, 2022-05-26)
    The congenital bone marrow failure syndrome Diamond-Blackfan anemia (DBA) is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with ...
  • Moving in on human motor cortex. Characterizing the relationship between body parts with non-rigid population response fields 
    Schellekens, Wouter; Bakker, Carlijn; Ramsey, Nick F; Petridou, Natalia (Public Library of Science, 2022-04)
    For cortical motor activity, the relationships between different body part representations is unknown. Through reciprocal body part relationships, functionality of cortical motor areas with respect to whole body motor ...