Recently added

DSpace/Manakin Repository

UMC Repository: Recent submissions

  • Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals 
    Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M (Springer Nature, 2024)
    Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is ...
  • Vertical tumor-positive resection margins and the risk of residual neoplasia after endoscopic resection of Barrett's neoplasia: a nationwide cohort with pathology reassessment 
    Weusten, Bas; Brosens, Lodewijk A.A.; The Dutch Barrett Expert Centers and the Dutch Barrett Expert Centers study group (Georg Thieme Verlag, 2024)
    Background: To evaluate the proportion of patients with residual neoplasia after endoscopic resection (ER) for Barrett's neoplasia with confirmed tumor-positive vertical resection margin (R1v). Methods: Retrospective cohort ...
  • Assessment of the risk of malignancy in Bethesda III thyroid nodules: a comprehensive review 
    Rao, Karthik Nagaraja; Randolph, Gregory W.; Lopez, Fernando; Zafereo, Mark; Coca-Pelaz, Andrés; Piazza, Cesare; Dange, Prajwal; Rodrigo, Juan Pablo; Stenman, Göran; de Keizer, Bart; Nixon, Iain; Sinha, Shriyash; Leboulleux, Sophie; Mäkitie, Antti A.; Agaimy, Abbas; Thompson, Lester; Ferlito, Alfio (Humana Press, 2024)
    The increasing prevalence of thyroid cancer emphasizes the need for a thorough assessment of risk of malignancy in Bethesda III nodules. Various methods ranging commercial platforms of molecular genetic testing (including ...
  • Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions 
    van Eerde, Albertien M.; HNF1B variant study group (Elsevier, 2024-08)
    Introduction: Hepatocyte nuclear factor 1-beta (HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders ...
  • Palliative care interventional research in general practice: a narrative review of factors affecting research conduct 
    Grant, Matthew; van der Waal, Maike; Pastrana, Tania; Rhee, Joel; Teunissen, Saskia (AME Publishing Company, 2024-07-31)
    BACKGROUND AND OBJECTIVE: The majority of palliative care provision occurs in general practice, yet only 9% of palliative care clinical trials were conducted in this setting. Evidence from hospital and specialist settings ...
  • Pain and psychopathology after intensive care unit admission 
    Smaisim, Nour; Rijsdijk, Mienke; van der Does, Yuri; Slooter, Arjen Jc (Australian Society of Anaesthetists, 2024-07)
    Pain and psychopathology are observed in 18% and 55% of patients, respectively, 1 year after intensive care unit (ICU) admission. It is well known that chronic pain and psychopathology have a bidirectional relation in the ...
  • SPECT postprocessing for epileptogenic focus localization: SISCOM versus ISAS 
    van Klink, Nicole; Gebbink, Tineke; Ferrier, Cyrille; Hobbelink, Monique; Tolboom, Nelleke; Noordmans, Herke Jan (Wiley-Blackwell Publishing Ltd, 2024-08)
    Objective: Ictal SPECT can be used as an estimate for the epileptogenic zone in people with focal epilepsy. Subtraction of ictal and interictal SPECT scans reveals the area with significant ictal hyperperfusion. Some methods ...
  • Extramedullary neutrophil progenitors: Quo Vadis? 
    Koenderman, Leo; Vrisekoop, Nienke (Springer Nature, 2024)
  • Statin therapy and cardiovascular protection in type 2 diabetes: The role of baseline LDL-Cholesterol levels. A systematic review and meta-analysis of observational studies 
    Soroush, Negin; Nekouei Shahraki, Mitra; Mohammadi Jouabadi, Soroush; Amiri, Masoud; Aribas, Elif; Stricker, Bruno H; Ahmadizar, Fariba (Elsevier, 2024-09)
    Aim: The guidelines recommend statins to prevent cardiovascular events in patients with type 2 diabetes (T2D) however, the importance of baseline LDL-Cholesterol (LDL-C) levels remains controversial. This study aimed to ...
  • Protection from bleeds during physical activity in people with haemophilia: the role of factor levels: a response to Nogami et al. (2023) 
    Versloot, Olav; van der Net, J.; Fischer, K. (Springer, 2024-08)
  • Global guideline for the diagnosis and management of cryptococcosis: an initiative of the ECMM and ISHAM in cooperation with the ASM 
    Chang, Christina C.; Harrison, Thomas S.; Bicanic, Tihana A.; Chayakulkeeree, Methee; Sorrell, Tania C.; Warris, Adilia; Hagen, Ferry; Spec, Andrej; Oladele, Rita; Govender, Nelesh P.; Chen, Sharon C.; Mody, Christopher H.; Groll, Andreas H.; Chen, Yee Chun; Lionakis, Michail S.; Alanio, Alexandre; Castañeda, Elizabeth; Lizarazo, Jairo; Vidal, José E.; Takazono, Takahiro; Hoenigl, Martin; Alffenaar, Jan Willem; Gangneux, Jean Pierre; Soman, Rajeev; Zhu, Li Ping; Bonifaz, Alexandro; Jarvis, Joseph N.; Day, Jeremy N.; Klimko, Nikolai; Salmanton-García, Jon; Jouvion, Grégory; Meya, David B.; Lawrence, David; Rahn, Sebastian; Bongomin, Felix; McMullan, Brendan J.; Sprute, Rosanne; Nyazika, Tinashe K.; Beardsley, Justin; Carlesse, Fabianne; Heath, Christopher H.; Ayanlowo, Olusola O.; Mashedi, Olga M.; Queiroz-Telles Filho, Flavio; Hosseinipour, Mina C.; Patel, Atul K.; Temfack, Elvis; Singh, Nina; Cornely, Oliver A.; Boulware, David R.; Lortholary, Olivier; Pappas, Peter G.; Perfect, John R. (Elsevier Limited, 2024-08)
    Cryptococcosis is a major worldwide disseminated invasive fungal infection. Cryptococcosis, particularly in its most lethal manifestation of cryptococcal meningitis, accounts for substantial mortality and morbidity. The ...
  • Factors affecting adherence to recommendations on pre-operative cardiac testing: A cohort study 
    Stroda, Alexandra; Sulot, Tanja; Roth, Sebastian; M'pembele, René; Mauermann, Eckhard; Ionescu, Daniela; Szczeklik, Wojciech; De Hert, Stefan; Filipovic, Miodrag; Beck Schimmer, Beatrice; Spadaro, Savino; Matute, Purificación; Turhan, Sanem Cakar; Van Waes, Judith; Lagarto, Filipa; Theodoraki, Kassiani; Gupta, Anil; Gillmann, Hans Jörg; Guzzetti, Luca; Kotfis, Katarzyna; Larmann, Jan; Corneci, Dan; Howell, Simon J.; Lurati Buse, Giovanna (Lippincott Williams & Wilkins, 2024-09)
    BACKGROUND Cardiac risk evaluation prior to noncardiac surgery is fundamental to tailor peri-operative management to patient’s estimated risk. Data on the degree of adherence to guidelines in patients at cardiovascular ...
  • Generating synthetic computed tomography for radiotherapy: SynthRAD2023 challenge report 
    Huijben, Evi M C; Terpstra, Maarten L; Galapon, Arthur Jr; Pai, Suraj; Thummerer, Adrian; Koopmans, Peter; Afonso, Manya; van Eijnatten, Maureen; Gurney-Champion, Oliver; Chen, Zeli; Zhang, Yiwen; Zheng, Kaiyi; Li, Chuanpu; Pang, Haowen; Ye, Chuyang; Wang, Runqi; Song, Tao; Fan, Fuxin; Qiu, Jingna; Huang, Yixing; Ha, Juhyung; Sung Park, Jong; Alain-Beaudoin, Alexandra; Bériault, Silvain; Yu, Pengxin; Guo, Hongbin; Huang, Zhanyao; Li, Gengwan; Zhang, Xueru; Fan, Yubo; Liu, Han; Xin, Bowen; Nicolson, Aaron; Zhong, Lujia; Deng, Zhiwei; Müller-Franzes, Gustav; Khader, Firas; Li, Xia; Zhang, Ye; Hémon, Cédric; Boussot, Valentin; Zhang, Zhihao; Wang, Long; Bai, Lu; Wang, Shaobin; Mus, Derk; Kooiman, Bram; Sargeant, Chelsea A H; Henderson, Edward G A; Kondo, Satoshi; Kasai, Satoshi; Karimzadeh, Reza; Ibragimov, Bulat; Helfer, Thomas; Dafflon, Jessica; Chen, Zijie; Wang, Enpei; Perko, Zoltan; Maspero, Matteo (Elsevier, 2024-10)
    Radiation therapy plays a crucial role in cancer treatment, necessitating precise delivery of radiation to tumors while sparing healthy tissues over multiple days. Computed tomography (CT) is integral for treatment planning, ...
  • Potentially Inappropriate End of Life Care and Healthcare Costs in the Last 30 Days of Life in Regions Providing Integrated Palliative Care in the Netherlands: A Registration-based Study 
    Pereira, Chantal F.R.; Dijxhoorn, Anne Floor Q.; Koekoek, Berdine; van den Broek, Monique; van der Steen, Karin; Engel, Marijanne; van Rijn, Marjon; Meijers, Judith M.; Hasselaar, Jeroen; van der Heide, Agnes; Onwuteaka-Philipsen, Bregje D.; van den Beuken-van Everdingen, Marieke H.J.; van der Linden, Yvette M.; Boddaert, Manon S.A.; Jeurissen, Patrick P.T.; Merkx, Matthias A W; Raijmakers, Natasja J H (Igitur, Utrecht Publishing and Archiving Services, 2024)
    Introduction: This study aimed to assess the effect of integrated palliative care (IPC) on potentially inappropriate end-of-life care and healthcare-costs in the last 30 days of life in the Netherlands. Methods: Nationwide ...
  • A proof-of-concept study of sequential treatment with the HDAC inhibitor vorinostat following BRAF and MEK inhibitors in BRAFV600mutated melanoma 
    Embaby, Alaa; Huijberts, Sanne C F A; Wang, Liqin; Leite de Oliveira, Rodrigo; Rosing, Hilde; Nuijen, Bastiaan; Sanders, Joyce; Hofland, Ingrid; van Steenis, Charlaine; Kluin, Roelof J C; Lieftink, Cor; Smith, Christopher G; Blank, Christian U; van Thienen, Johannes V; Haanen, John B A G; Steeghs, Neeltje; Opdam, Frans L; Beijnen, Jos H; Huitema, Alwin D R; Bernards, Rene; Schellens, Jan H M; Wilgenhof, Sofie (American Association for Cancer Research Inc., 2024-08-01)
    PURPOSE: The development of resistance limits the clinical benefit of BRAF and MEK inhibitors (BRAFi/MEKi) in BRAFV600-mutated melanoma. It has been shown that short-term treatment (14 days) with vorinostat was able to ...
  • Diffuse, IDH-wildtype gliomas in adults with minimal histological change and isolated TERT promoter mutation: not simply CNS WHO grade 4 
    Priesterbach-Ackley, L P; Cordier, F; de Witt Hamer, P; Snijders, T J; Robe, P A; Küsters, B; de Leng, W W J; den Dunnen, W F A; Brandsma, D; Jansen, C; Wesseling, P; Muhlebner, A (Springer, 2024-07-29)
  • Experiences with a national team-based learning program for advance care planning in pediatric palliative care 
    Engel, Marijanne; Fahner, Jurrianne C.; Hennus, Marije P.; Brounen, Marie-José; van Capelle, Carine; de Groot, Marinka A.R.; Hermans-Peters, Marion; Hofman, Suzanne C.; Joosen, Cindy; Lalbahadoersing-Jharap, Sarmila; Maebe, Sofie; Michiels, Erna M.C.; Miedema, Suzanna; Raphael, Martine F; Schieving, Jolanda H.; de Weerd, Willemien; Kars, MC (BioMed Central Ltd., 2024-08-03)
    Background Advance Care Planning (ACP) enables patients and relatives to define and share values, goals and preferences for future medical treatment and care. The IMplementing Pediatric Advance Care Planning Toolkit (IMPACT), ...
  • Changes in quality of life 1 year after intensive care: a multicenter prospective cohort of ICU survivors 
    Porter, Lucy L; Simons, Koen S; Corsten, Stijn; Westerhof, Brigitte; Rettig, Thijs C D; Ewalds, Esther; Janssen, Inge; Jacobs, Crétien; van Santen, Susanne; Slooter, Arjen J C; van der Woude, Margaretha C E; van der Hoeven, Johannes G; Zegers, Marieke; van den Boogaard, Mark (Springer Science + Business Media, 2024-07-25)
    BACKGROUND: With survival rates of critical illness increasing, quality of life measures are becoming an important outcome of ICU treatment. Therefore, to study the impact of critical illness on quality of life, we explored ...
  • Population Pharmacokinetics of Inotuzumab Ozogamicin in Pediatric Relapsed/Refractory B-Cell Precursor Acute Lymphoblastic Leukemia: Results of Study ITCC-059 
    Wu, Jen Hao; Pennesi, Edoardo; Bautista, Francisco; Garrett, May; Fukuhara, Kei; Brivio, Erica; Ammerlaan, Anneke C.J.; Locatelli, Franco; van der Sluis, Inge M.; Rossig, Claudia; Chen-Santel, Christiane; Bielorai, Bella; Petit, Arnaud; Starý, Jan; Díaz-de-Heredia, Cristina; Rives, Susana; O’Marcaigh, Aengus; Rizzari, Carmelo; Engstler, Gernot; Nysom, Karsten; Rubio-San-Simón, Alba; Bruno, Benedicte; Bertrand, Yves; Brethon, Benoît; Rialland, Fanny; Plat, Geneviève; Dirksen, Uta; Sramkova, Lucie; Zwaan, C. Michel; Huitema, Alwin D.R. (Adis, 2024-07)
    Background and Objective: Inotuzumab ozogamicin is an antibody-drug conjugate approved for treating relapsed/refractory B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in adults. Pediatric pharmacokinetic data of ...
  • A heatmap for expected cumulative live birth rate in preimplantation genetic testing for monogenic disorders and chromosomal structural rearrangements 
    Keymolen, Kathelijn; Cools, Wilfried; De Vos, Anick; Pölsler, Laura; De Vos, Michel; Blockeel, Christophe; Fernandez-Gallardo, Elia; De Rycke, Martine; Berckmoes, Veerle; Verdyck, Pieter; Hes, Frederik Jan; Verpoest, Willem (Springer New York, 2024-07)
    Purpose: Our objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing preimplantation genetic testing for monogenic disorders (PGT-M) and chromosomal ...