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UMC Repository: Recent submissions

  • Setting the stage for embryo segmentation 
    Sonnen, Katharina F. (Cell Press, 2024-08-01)
    Morphogen gradients are critical regulators of embryonic development. In this issue, Liu et al.1 introduce a microfluidic system that externally applies morphogen gradients to an in vitro model of human embryo segmentation. ...
  • GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases 
    Lesmann, Hellen; Hustinx, Alexander; Moosa, Shahida; Klinkhammer, Hannah; Marchi, Elaine; Caro, Pilar; Abdelrazek, Ibrahim M; Pantel, Jean Tori; Hagen, Merle Ten; Thong, Meow-Keong; Binti Mazlan, Rifhan Azwani; Tae, Sok Kun; Kamphans, Tom; Meiswinkel, Wolfgang; Li, Jing-Mei; Javanmardi, Behnam; Knaus, Alexej; Uwineza, Annette; Knopp, Cordula; Tkemaladze, Tinatin; Elbracht, Miriam; Mattern, Larissa; Jamra, Rami Abou; Velmans, Clara; Strehlow, Vincent; Jacob, Maureen; Peron, Angela; Dias, Cristina; Nunes, Beatriz Carvalho; Vilella, Thainá; Pinheiro, Isabel Furquim; Kim, Chong Ae; Melaragno, Maria Isabel; Weiland, Hannah; Kaptain, Sophia; Chwiałkowska, Karolina; Kwasniewski, Miroslaw; Saad, Ramy; Wiethoff, Sarah; Goel, Himanshu; Tang, Clara; Hau, Anna; Barakat, Tahsin Stefan; Panek, Przemysław; Nabil, Amira; Suh, Julia; Braun, Frederik; Gomy, Israel; Averdunk, Luisa; Oegema, Renske; Hellen Lesmann (Research Square, 2024-06-10)
    The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic ...
  • From Evasion to Elimination: Enhancing IgA therapy through myeloid checkpoint inhibition 
    Chan, Chilam (Utrecht University, 2024-09-11)
    This thesis explores the potential of IgA antibodies in cancer treatment, presenting a promising alternative to the currently used IgG antibodies in immunotherapy. Although IgG antibodies have been the main antibody isotype ...
  • “Long term speech outcomes after using the Sommerlad technique for primary palatoplasty: a retrospective study in the Wilhelmina Children’s Hospital, Utrecht.” 
    Hofman, Lieke; Paes, Emma C.; Haverkamp, Sarah J.; Jenniskens, Kevin; Mink van der Molen, Aebele B. (Springer-Verlag, 2024-08)
    Objectives: After cleft lip and/or palate (CL/P) repair, children may develop velopharyngeal insufficiency (VPI) leading to speech imperfections, necessitating additional speech correcting surgery. This study examines the ...
  • Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women 
    Becking, Ellis C; Scheffer, Peter G; Henrichs, Jens; Bax, Caroline J; Crombag, Neeltje M T H; Weiss, Marjan M; Macville, Merryn V E; Van Opstal, Diane; Boon, Elles M J; Sistermans, Erik A; Henneman, Lidewij; Schuit, Ewoud; Bekker, Mireille N (Mosby Inc., 2024-08)
    Background: Noninvasive prenatal testing by cell-free DNA analysis is offered to pregnant women worldwide to screen for fetal aneuploidies. In noninvasive prenatal testing, the fetal fraction of cell-free DNA in the maternal ...
  • Plantar intrinsic foot muscle activation during functional exercises compared to isolated foot exercises in younger adults 
    Willemse, Lydia; Wouters, Eveline J M; Pisters, Martijn F; Vanwanseele, Benedicte (Informa Healthcare, 2024)
    BACKGROUND: Training the plantar intrinsic foot muscles (PIFMs) has the potential to benefit patients with lower extremity musculoskeletal conditions as well as the aged population. Isolated foot exercises, often standard ...
  • Transfusion of ever-pregnant donor red blood cells and mortality of male patients 
    Valk, Sarah J; Caram-Deelder, Camila; Groenwold, Rolf H H; Evers, Dorothea; De Vooght, Karen M K; Van de Kerkhof, Daan; Wondergem, Marielle J; Péquériaux, Nathalie C V; Hudig, Francisca; Zwaginga, Jaap Jan; Middelburg, Rutger A; Van der Bom, Johanna G (Ferrata Storti Foundation, 2024-08)
    Previous studies found exposure to red blood cell transfusions from female donors who have been pregnant reduces survival in male patients compared to exposure to male donor products, but evidence is not consistent. We ...
  • The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders 
    Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Löbel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S; Mirsky, David M; Whitehead, Matthew T; Zaki, Maha S; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C; Lequin, Maarten; de Vries, Linda S; Severino, Mariasavina; Edmondson, Andrew C; Menzies, Lara; Campeau, Philippe M; Houlden, Henry; McTague, Amy; Efthymiou, Stephanie; Mankad, Kshitij (Oxford University Press, 2024-08)
    Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating ...
  • The Regenerating Body: An ethical analysis of personalized regenerative implants 
    van Daal, Manon (Utrecht University, 2024-09-11)
    A new generation of personalized regenerative implants is being developed for use in healthcare. These implants break down after implantation and facilitate tissue regeneration. While these innovations hold the promise to ...
  • Introduction: Mentoring in nursing research and academia 
    Hafsteinsdóttir, Thóra B. (Springer International Publishing, 2023-07-15)
    In this section of the book, the focus is on the importance of mentoring of nurses working in the fields of research and academia. As we all know, nursing research is imperative to the foundation of nursing both as a ...
  • A reference standard for urinary tract infection research: a multidisciplinary Delphi consensus study 
    UTI Reference Standard Consensus Group (Elsevier Limited, 2024-08)
    The absence of a consensus-based reference standard for urinary tract infection (UTI) research adversely affects the internal and external validity of diagnostic and therapeutic studies. This omission hinders the accumulation ...
  • Introduction in mentoring in leadership 
    Hafsteinsdóttir, Thóra B. (Springer International Publishing, 2023-07-15)
    Global reports have claimed that nurses are not visible as leaders and have called for stronger leadership and positioning of nurses in all arenas of healthcare [1-4]. Although nurses were praised for their strong ...
  • Revisiting distinct nerve excitability patterns in patients with amyotrophic lateral sclerosis 
    Stikvoort García, Diederik J L; Goedee, H Stephan; van Eijk, Ruben P A; van Schelven, Leonard J; van den Berg, Leonard H; Sleutjes, Boudewijn T H M (Oxford University Press, 2024-08)
    Amyotrophic lateral sclerosis is a devastating neurodegenerative disease, characterized by loss of central and peripheral motor neurons. Although the disease is clinically and genetically heterogeneous, axonal hyperexcitability ...
  • Establishing mentoring in European collaboration 
    van Dongen, Lisa; Hafsteinsdóttir, Thóra B. (Springer International Publishing, 2023-07-15)
    Although mentoring in nursing science has a long tradition in countries, like the United States, where mentoring is recognized as an essential tool in academia aiming to mentor the new generation of nurse scientists, this ...
  • Preface 
    Gantz, Nancy Rollins; Hafsteinsdóttir, Thóra B. (Springer International Publishing, 2023-07-15)
  • Accelerated Cortical Thinning in Schizophrenia is Associated With Rare and Common Predisposing Variation to Schizophrenia and Neurodevelopmental Disorders 
    CIBERSAM group (Elsevier, 2024-09-01)
    Background: Schizophrenia is a highly heritable disorder characterized by increased cortical thinning throughout the life span. Studies have reported a shared genetic basis between schizophrenia and cortical thickness. ...
  • Introduction 
    Gantz, Nancy Rollins; Hafsteinsdóttir, Thóra B. (Springer International Publishing, 2023-07-15)
  • Contemporary guideline-directed medical therapy in de novo, chronic, and worsening heart failure patients: First data from the TITRATE-HF study 
    Malgie, Jishnu; Wilde, Mariëlle I; Clephas, Pascal R D; Emans, Mireille E; Koudstaal, Stefan; Schaap, Jeroen; Mosterd, Arend; van Ramshorst, Jan; Wardeh, Alexander J; van Wijk, Sandra; van den Heuvel, Mieke; Wierda, Eric; Borleffs, C Jan Willem; Saraber, Colette; Beeres, Saskia L M A; van Kimmenade, Roland; Jansen Klomp, Wouter; Denham, Robert; da Fonseca, Carlos A; Klip, IJsbrand T; Manintveld, Olivier C; van der Boon, Robert M A; van Ofwegen, Clara E E; Yilmaz, Ayten; Pisters, Ron; Linssen, Gerard C M; Faber, Nikola; van Heerebeek, Loek; van de Swaluw, Julio E C; Bouhuijzen, Lex J; Post, Marco C; Kuijper, Aaf F M; Wu, Ka Wai; van Beek, Eugène A; Hesselink, Tim; Kleijn, Lennaert; Kurvers, Maurice J M; Tio, René A; Langerveld, Jorina; van Dalen, Bas M; van Eck, J W Martijn; Handoko, M Louis; Hermans, Walter R M; Koornstra-Wortel, Hetty J J; Szymanski, Mariusz K; Rooker, Dennis; Tandjung, Kenneth; Eijsbouts, Sabine C M; Asselbergs, Folkert W; van der Meer, Peter; Brunner-La Rocca, Hans-Peter; de Boer, Rudolf A; Brugts, Jasper J (Oxford University Press, 2024-07)
    AIMS: Despite clear guideline recommendations for initiating four drug classes in all patients with heart failure (HF) with reduced ejection fraction (HFrEF) and the availability of rapid titration schemes, information on ...
  • Medullary Sponge Kidney and its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics First Approach 
    Genomics England Research Consortium (S. Karger AG, 2024)
    Medullary sponge kidney (MSK) is a description of radiographic features. However, the pathogenesis of MSK remains unclear. MSK is supposed to be the cause of secondary distal renal tubular acidosis (dRTA), although there ...
  • Clonal Expansion of a Streptococcus pneumoniae Serotype 3 Capsule Variant Sequence Type 700 With Enhanced Vaccine Escape Potential After 13-Valent Pneumococcal Conjugate Vaccine Introduction 
    Kalizang'oma, Akuzike; Swarthout, Todd D; Mwalukomo, Thandie S; Kamng'ona, Arox; Brown, Comfort; Msefula, Jacquline; Demetriou, Hayley; Chan, Jia Mun; Roalfe, Lucy; Obolski, Uri; Lourenço, Jose; Goldblatt, David; Chaguza, Chrispin; French, Neil; Heyderman, Robert S (Oxford University Press, 2024-07-15)
    BACKGROUND: Streptococcus pneumoniae serotype 3 remains a problem globally. Malawi introduced 13-valent pneumococcal conjugate vaccine (PCV13) in 2011, but there has been no direct protection against serotype 3 carriage. ...