Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Identifying genetic differences between bipolar disorder and major depression through multiple genome-wide association analyses 
    Panagiotaropoulou, Georgia; Hellberg, Kajsa-Lotta Georgii; Coleman, Jonathan R I; Seok, Darsol; Kalman, Janos; Mitchell, Philip B; Schofield, Peter R; Forstner, Andreas J; Bauer, Michael; Scott, Laura J; Pato, Carlos N; Pato, Michele T; Li, Qingqin S; Kirov, George; Landén, Mikael; Jonsson, Lina; Müller-Myhsok, Bertram; Smoller, Jordan W; Binder, Elisabeth B; Brückl, Tanja M; Czamara, Darina; Van der Auwera, Sandra; Grabe, Hans J; Homuth, Georg; Schmidt, Carsten O; Potash, James B; DePaulo, J Raymond; Goes, Fernando S; MacKinnon, Dean F; Mondimore, Francis M; Weissman, Myrna M; Shi, Jianxin; Frye, Mark A; Biernacka, Joanna M; Reif, Andreas; Witt, Stephanie H; Kahn, René R; Boks, Marco M; Owen, Michael J; Gordon-Smith, Katherine; Mitchell, Brittany L; Martin, Nicholas G; Medland, Sarah E; Jones, Lisa; Knowles, James A; Levinson, Douglas F; O'Donovan, Michael C; Lewis, Cathryn M; Breen, Gerome; Ophoff, Roel A; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium (Cambridge University Press, 2025-02)
    BACKGROUND: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic ...
  • Barriers to early detection: Insurance denials for breast MRI screening in women with germline BRCA1/2 mutations 
    Gordhandas, S; Gellman, C; Ingber, S; Yen, T; Kahn, R; Kyana, S; Taffuri, A; Sokolowski, S; Martinez, D; Garcia, P; Mullangi, S; Long Roche, K; Abu-Rustum, N; Mangino, D; Pilewskie, M; Sutton, E; Aviki, E (Academic Press Inc., 2025-02)
    OBJECTIVES: Women with germline BRCA1/2 pathogenic variants (gBRCA1/2) are recommended to undergo annual breast MRI and mammography. Our objective was to describe the frequency of insurance denials for annual breast MRIs ...
  • A multimodal neural signature of face processing in autism within the fusiform gyrus 
    Floris, Dorothea L; Llera, Alberto; Zabihi, Mariam; Moessnang, Carolin; Jones, Emily J H; Mason, Luke; Haartsen, Rianne; Holz, Nathalie E; Mei, Ting; Elleaume, Camille; Vieira, Bruno Hebling; Pretzsch, Charlotte M; Forde, Natalie J; Baumeister, Sarah; Dell'Acqua, Flavio; Durston, Sarah; Banaschewski, Tobias; Ecker, Christine; Holt, Rosemary J; Baron-Cohen, Simon; Bourgeron, Thomas; Charman, Tony; Loth, Eva; Murphy, Declan G M; Buitelaar, Jan K; Beckmann, Christian F; Langer, Nicolas; EU-AIMS LEAP group (2025-01)
    Atypical face processing is commonly reported in autism. Its neural correlates have been explored extensively across single neuroimaging modalities within key regions of the face processing network, such as the fusiform ...
  • Gut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation 
    Berbers, Roos-Marijn; Paganelli, Fernanda L; van Montfrans, Joris M; Ellerbroek, Pauline M; Viveen, Marco C; Rogers, Malbert R C; Salomons, Moniek; Schuurmans, Jaap; van Stigt Thans, Martine; Vanmaris, Remi M M; Brosens, Lodewijk A A; van der Wal, Maria Marlot; Dalm, Virgil A S H; van Hagen, P Martin; van de Ven, Annick A J M; Uh, Hae-Won; van Wijk, Femke; Willems, Rob J L; Leavis, Helen L (BioMed Central Ltd., 2025-01-16)
    Background: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and recurrent infections. Significant morbidity and mortality are caused by immune dysregulation complications (CVIDid), which ...
  • Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic 
    Thierry, Isabelle P; Muller, Steven A; Baas, Annette F; Dooijes, Dennis; van Loon, R Laura E; Schoemaker, Angela E; van der Harst, Pim; Oerlemans, Marish I F J; Baars, Hubert F; Hassink, Rutger J; Asselbergs, Folkert W; van Tintelen, J Peter; Te Riele, Anneline S J M (Bohn Stafleu van Loghum, 2025-02)
    Introduction: Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification ...
  • Coronary revascularization in randomized clinical trials comparing transcatheter and surgical aortic valve replacement: is it time to bridge the gap? 
    Aarts, Hugo M; Voskuil, Michiel; Delewi, Ronak (Oxford University Press, 2025-04-01)
  • Short Term Outcomes of a Prospective Registry of Popliteal and Infrapopliteal Endovascular Interventions for Chronic Limb Threatening Ischaemia 
    Nugteren, Michael J.; Hazenberg, Constantijn E.V.B.; Bakker, Olaf J.; Dinkelman, Maarten K.; Fioole, Bram; Hinnen, Jan Willem; Pierie, Maurice; de Borst, Gert J.; Ünlü, Çağdaş; Akkersdijk, George P.; Bekken, Joost A.; Bosma, Jan; Buwalda, Mariska; Cuijpers-Patist, Bianca; Feenstra, Iris; de Fijter, W. Marnix; van den Haak, Ronald F.F.; van Hattum, Eline S.; (Koen) van Hees, C. P.H.; van den Heuvel, Daniel A.F.; Heyligers, Jan M.M.; Hogendoorn, Wouter; van Huffelen, Kirsten; Hulsebos, Robin G.; Jansze, Anouk; Koning, Olivier H.J.; van Lammeren, Guus; van de Luijtgaarden, Koen M.; van Mierlo – van den Broek, Patricia A.H.; Petri, Bart Jeroen; Schouten, Olaf; Schreve, Michiel A.; Siebelt-Klapper, Ilona; de Smet, Andre A.E.A.; Teraa, Martin; Toorop, Raechel J.; Verhoeven, Bart A.N.; Vriens, Patrick W.H.E.; THRILLER collaborative group (W.B. Saunders Ltd, 2025-02)
    Objective: The prevalence of chronic limb threatening ischaemia (CLTI) is increasing worldwide, resulting in the need for more patients to undergo revascularisation, especially for below the knee pathology. Nevertheless, ...
  • Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency 
    Boogers, Lidewij S.; Brüggenwirth, Hennie T.; Wolffenbuttel, Katja P.; Hersmus, Remko; Bryce, Jillian; Ahmed, S. Faisal; Lucas-Herald, Angela K.; Baronio, Federico; Cools, Martine; Ellaithi, Mona; Globa, Evgenia; Güran, Tülay; Hiort, Olaf; Holterhus, Paul Martin; MсElreavey, Kenneth; Niedziela, Marek; Stancampiano, Marianna Rita; Tosun, Buşra G.; van Bever, Yolande; Oosterhuis, J. Wolter; Looijenga, Leendert H.J.; Hannema, Sabine E. (Oxford University Press, 2025-01-06)
    OBJECTIVE: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term ...
  • Deep Learning and Multidisciplinary Imaging in Pediatric Surgical Oncology: A Scoping Review 
    Buser, M. A.D.; van der Rest, J. K.; Wijnen, M. H.W.A.; de Krijger, R. R.; van der Steeg, A. F.W.; van den Heuvel-Eibrink, M. M.; Reismann, M.; Veldhoen, S.; Pio, L.; Markel, M. (John Wiley & Sons Inc., 2025-01)
    Background: Medical images play an important role in diagnosis and treatment of pediatric solid tumors. The field of radiology, pathology, and other image-based diagnostics are getting increasingly important and advanced. ...
  • Positive associations between mean ambient temperature and involuntary admissions to psychiatric facilities 
    Joore, Noah L.; van der Horst, Marte Z.; Noorthoorn, Eric O.; Strous, Jurriaan F.M.; Vruwink, Fleur J.; Guloksuz, Sinan; Siegmund, Peter C.; Luykx, Jurjen J. (Cambridge University Press, 2025-01-10)
    BACKGROUND: Temperature increases in the context of climate change affect numerous mental health outcomes. One such relevant outcome is involuntary admissions as these often relate to severe (life)threatening psychiatric ...
  • Intervention strategies to prevent mental health problems and improve resilience in employed parents from conception until the child is 5 years of age: a scoping review 
    Crombag, Neeltje; Bollen, Bieke; Vancoppenolle, Eline; Vandendriessche, Thomas; Versmissen, Dagmar; Paisi, Martha; Shawe, Jill; Garthus-Niegel, Susan; Bogaerts, Annick (BioMed Central, 2025-01-09)
    AIM: To understand the extent and type of evidence in relation to the effectiveness of intervention strategies targeting working pregnant women, and their partners, for the prevention of mental health problems (depression, ...
  • Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia 
    Taudien, Jacqueline E.; Bracht, Diana; Olbrich, Heike; Swirski, Sebastian; D'Abrusco, Fulvio; Van der Zwaag, Bert; Möller, Maike; Lücke, Thomas; Teig, Norbert; Lindberg, Ulrika; Wohlgemuth, Kai; Wallmeier, Julia; Blanque, Anja; Gatsogiannis, Christos; George, Sebastian; Jüschke, Christoph; Owczarek-Lipska, Marta; Veer, Dorothee; Kroes, Hester Y.; Valente, Enza Maria; Korenke, G. Christoph; Omran, Heymut; Neidhardt, John (Elsevier, 2025-02-21)
    Pathogenic variants in KIAA0586/TALPID3 are associated with the ciliopathy Joubert syndrome (JS). We report individuals with KIAA0586/TALPID3 variants affected by primary and motile cilia defects leading to JS and chronic ...
  • Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy) 
    Ernst, Martijn P.T.; Versluis, Jurjen; Valk, Peter J.M.; Bierings, Marc; Tamminga, Rienk Y.J.; Hooimeijer, Louise H.; Döhner, Konstanze; Gresele, Paolo; Tawana, Kiran; Langemeijer, Saskia M.C.; Van der Reijden, Bert A.; Podgornik, Helena; Sever, Matjaz; Tvedt, Tor H.A.; Vulliamy, Tom; Fitzgibbon, Jude; Dokal, Inderjeet; Baliakas, Panagiotis; Bastida, José M.; Pohlkamp, Christian; Haferlach, Torsten; Larcher, Lise; Soulier, Jean; Schutgens, Roger E.G.; Freson, Kathleen; Duployez, Nicolas; Löwenberg, Bob; Ericson, Katrin; Cammenga, Jörg; Ripperger, Tim; Raaijmakers, Marc H.G.P. (Wolters Kluwer Health, 2025-01)
    Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, RUNX1-FPD), caused by monoallelic deleterious germline RUNX1 variants, is characterized by bleeding diathesis and predisposition for hematologic ...
  • Low Attainment of Treatment Targets for Cardiovascular Risk Factors in Indonesian Adults With Established Coronary Artery Disease 
    Arsyad, Dian Sidik; Qalby, Nurul; Qanitha, Andriany; Mappangara, Idar; Milayanti, Wilis; Wahiduddin; Ansariadi; Visseren, Frank L.J.; Cramer, Maarten J.; Doevendans, Pieter A.; Hageman, Steven H.J. (Wiley-Blackwell, 2025-02)
    Rationale: Established coronary artery disease (CAD) patients are at increased risk for recurrence of cardiovascular events and mortality due to non-attainment of recommended risk factor control targets. Objective: We aimed ...
  • Desmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies 
    Gasperetti, Alessio; Carrick, Richard T.; Muller, Steven; Murray, Brittney; Adamo, Luigi; Bauce, Barbara; McNally, Elizabeth; Helms, Adam (Springer, 2025-01-09)
    Purpose of Review: To summarize the available data on the use of immunosuppression therapies for the management of hot phases of disease and recurrent myocarditis in patients with desmoplakin cardiomyopathy (DSP-CMP). ...
  • The course of physical fitness and nutritional status in patients following prehabilitation before esophageal cancer surgery: Results from the PRIOR study 
    Reijneveld, Elja A.E.; Kooij, Cezanne D.; Dronkers, Jaap J.; Kingma, B. Feike; Stel, Joyce M.A.; Sauer, Miron; van Hillegersberg, Richard; van Duijvendijk, Peter; Beijer, Sandra; Ruurda, Jelle P.; Veenhof, Cindy; the ‘PRIOR study group’ (W.B. Saunders Ltd, 2025-03)
    Introduction: This study evaluates the course of physical fitness and nutritional status during curative therapy for esophageal cancer, after implementation of a prehabilitation program. Additionally, the impact of baseline ...
  • Population and within-host dynamics of biological systems 
    Pinto, Carla M.A.; Aguiar, Maíra; Rozhnova, Ganna; D'Onofrio, Alberto (Elsevier Limited, 2025-02)
  • ‘Entanglement of nursing care’: A theoretical proposition to understand the complexity of nursing work and division of labour 
    Stalpers, Dewi; Schoonhoven, Lisette; Dall'Ora, Chiara; Ball, Jane; Griffiths, Peter (Elsevier Limited, 2025-03)
    Ongoing challenges in the provision of care, driven by growing care complexity and nursing shortages, prompt us to reconsider the basis for efficient division of nursing labour. In organising nursing work, traditionally ...
  • The feasibility of endoscopic stapes surgery: A three-dimensional planning method 
    Jellema, Maaike; Buter, Mijs; Blijleven, Esther E.; Willemsen, Koen; Nguyen, H. Chien; Stokroos, Robert J.; Wegner, Inge; Thomeer, Henricus G.X.M. (Wiley-Blackwell, 2025-02)
    Objective: The primary aim of this study was to investigate the accuracy of a semi-automatic algorithm in assessing the feasibility and complexity of endoscopic stapes surgery preoperatively. Methods: A semi-automatic ...
  • Neuroimaging of postoperative pediatric cerebellar mutism syndrome: A systematic review 
    Obdeijn, Iris V.; Van Baarsen, Kirsten M.; Avula, Shivaram; Toescu, Sebastian; Lequin, Maarten H.; Hoving, Eelco W.; Partanen, Marita (Oxford University Press, 2025-01)
    Background: Postoperative pediatric cerebellar mutism syndrome (ppCMS) poses serious morbidity after posterior fossa tumor surgery. Neuroimaging studies aim to understand its pathophysiology, yet these vary in methodology ...