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UMC Repository: Recent submissions

  • Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review 
    Bintalib, Heba M.; van de Ven, Annick; Jacob, Joseph; Davidsen, Jesper Rømhild; Fevang, Børre; Hanitsch, Leif G.; Malphettes, Marion; van Montfrans, Joris; Maglione, Paul J.; Milito, Cinzia; Routes, John; Warnatz, Klaus; Hurst, John R. (Frontiers Media S. A., 2023)
    Introduction: Common variable immunodeficiency related interstitial lung disease (CVID-ILD, also referred to as GLILD) is generally considered a manifestation of systemic immune dysregulation occurring in up to 20% of ...
  • Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement 
    Lee, Pui Y.; Davidson, Brad A.; Abraham, Roshini S.; Alter, Blanche; Arostegui, Juan I.; Bell, Katherine; Belot, Alexandre; Bergerson, Jenna R.E.; Bernard, Timothy J.; Brogan, Paul A.; Berkun, Yackov; Deuitch, Natalie T.; Dimitrova, Dimana; Georgin-Lavialle, Sophie A.; Gattorno, Marco; Grimbacher, Bodo; Hashem, Hasan; Hershfield, Michael S.; Ichord, Rebecca N.; Izawa, Kazushi; Kanakry, Jennifer A.; Khubchandani, Raju P.; Klouwer, Femke C.C.; Luton, Evan A.; Man, Ada W.; Meyts, Isabelle; Van Montfrans, Joris M.; Ozen, Seza; Saarela, Janna; Santo, Gustavo C.; Sharma, Aman; Soldatos, Ariane; Sparks, Rachel; Torgerson, Troy R.; Uriarte, Ignacio Leandro; Youngstein, Taryn A.B.; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L.; Chambers, Eugene P.; Ombrello, Amanda K. (American Medical Association, 2023-05-31)
    Importance: Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited disease characterized by systemic vasculitis, early-onset stroke, bone marrow failure, and/or immunodeficiency affecting both children and ...
  • Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases 
    de Jesus, Adriana A.; Hou, Yangfeng; Brooks, Stephen; Malle, Louise; Biancotto, Angelique; Huang, Yan; Calvo, Katherine R.; Marrero, Bernadette; Moir, Susan; Oler, Andrew J.; Deng, Zuoming; Montealegre Sanchez, Gina A.; Ahmed, Amina; Allenspach, Eric; Arabshahi, Bita; Behrens, Edward; Benseler, Susanne; Bezrodnik, Liliana; Bout-Tabaku, Sharon; Brescia, Anne Marie C.; Brown, Diane; Burnham, Jon M.; Caldirola, Maria Soledad; Carrasco, Ruy; Chan, Alice Y.; Cimaz, Rolando; Dancey, Paul; Dare, Jason; DeGuzman, Marietta; Dimitriades, Victoria; Ferguson, Ian; Ferguson, Polly; Finn, Laura; Gattorno, Marco; Grom, Alexei A.; Hanson, Eric P.; Hashkes, Philip J.; Hedrich, Christian M.; Herzog, Ronit; Horneff, Gerd; Jerath, Rita; Kessler, Elizabeth; Kim, Hanna; Kingsbury, Daniel J.; Laxer, Ronald M.; Lee, Pui Y.; Lee-Kirsch, Min Ae; Lewandowski, Laura; Li, Suzanne; van Royen-Kerkhof, Annet (American Society for Clinical Investigation, 2020-04-01)
    BACKGROUND. Undifferentiated systemic autoinflammatory diseases (USAIDs) present diagnostic and therapeutic challenges. Chronic interferon (IFN) signaling and cytokine dysregulation may identify diseases with available ...
  • Multicenter research priorities in pediatric CMR: results of a collaborative wiki survey 
    Beroukhim, Rebecca S; Merlocco, Anthony; Gerardin, Jennifer F; Tham, Edythe; Patel, Jyoti K; Siddiqui, Saira; Goot, Benjamin; Farooqi, Kanwal; Soslow, Jonathan; Grotenhuis, Heynric; Hor, Kan; Muthurangu, Vivek; Raimondi, Francesca (Nature Publishing Group, 2023-06-03)
    Multicenter studies in pediatric cardiovascular magnetic resonance (CMR) improve statistical power and generalizability. However, a structured process for identifying important research topics has not been developed. We ...
  • Diagnosis of childhood febrile illness using a multi-class blood RNA molecular signature 
    Pediatric Emergency Medicine Kawasaki Disease Research Group (PEMKDRG) (Cell Press, 2023-09-08)
    BACKGROUND: Appropriate treatment and management of children presenting with fever depend on accurate and timely diagnosis, but current diagnostic tests lack sensitivity and specificity and are frequently too slow to inform ...
  • Characteristics and management of adolescents attending the ED with fever: A prospective multicentre study 
    Borensztajn, Dorine; Hagedoorn, Nienke N.; Carrol, Enitan; Von Both, Ulrich; Dewez, Juan Emmanuel; Emonts, Marieke; Van Der Flier, Michiel; De Groot, Ronald; Herberg, Jethro; Kohlmaier, Benno; Levin, Michael; Lim, Emma; Maconochie, Ian; Martinon Torres, Federico; Nijman, Ruud; Pokorn, Marko; Rivero-Calle, Irene; Tsolia, Maria; Vermont, Clementien; Zavadska, Dace; Zenz, Werner; Zachariasse, Joany; Moll, Henriette A. (BMJ Publishing Group, 2022-01-19)
    Objective Most studies on febrile children have focused on infants and young children with serious bacterial infection (SBI). Although population studies have described an increased risk of sepsis in adolescents, little ...
  • Eculizumab impairs killing of Neisseria meningitidis serogroup B in atypical hemolytic uremic syndrome patients vaccinated with MenB-4C 
    van den Broek, Bryan; van der Flier, Michiel; van de Kar, Nicole C.A.J.; Wetzels, Jack F.M.; de Jonge, Marien I.; de Groot, Ronald; Wijnsma, Kioa L.; Langereis, Jeroen D. (Elsevier, 2022-06)
  • Population pharmacokinetics of intravenous cefotaxime indicates that higher doses are required for critically ill children 
    Hartman, Stan J.F.; Upadhyay, Parth J.; Mathôt, Ron A.A.; Van Der Flier, Michiel; Schreuder, Michiel F.; Brüggemann, Roger J.; Knibbe, Catherijne A.; De Wildt, Saskia N. (Oxford University Press, 2022-06-01)
    Background: Cefotaxime is frequently used in critically ill children, however pharmacokinetic (PK) studies to support adequate dosing in this patient population are limited. Objectives: To characterize cefotaxime PK in ...
  • Febrile children with comorbidities at the emergency department — a multicentre observational study 
    Borensztajn, Dorine M.; Hagedoorn, Nienke N.; Carrol, Enitan D.; von Both, Ulrich; Emonts, Marieke; van der Flier, Michiel; de Groot, Ronald; Herberg, Jethro; Kohlmaier, Benno; Levin, Michael; Lim, Emma; Maconochie, Ian K.; Martinon-Torres, Federico; Nijman, Ruud G.; Pokorn, Marko; Rivero-Calle, Irene; Tsolia, Maria; van der Velden, Fabian J.S.; Vermont, Clementien; Zavadska, Dace; Zenz, Werner; Zachariasse, Joany M.; Moll, Henriette A. (Springer-Verlag, 2022-09)
    We aimed to describe characteristics and management of children with comorbidities attending European emergency departments (EDs) with fever. MOFICHE (Management and Outcome of Fever in children in Europe) is a prospective ...
  • Spatial analyses of immune cell infiltration in cancer: current methods and future directions. A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer 
    Page, David B; Broeckx, Glenn; Jahangir, Chowdhury Arif; Verbandt, Sara; Gupta, Rajarsi R; Thagaard, Jeppe; Khiroya, Reena; Kos, Zuzana; Abduljabbar, Khalid; Acosta Haab, Gabriela; Acs, Balazs; Almeida, Jonas S; Alvarado-Cabrero, Isabel; Azmoudeh-Ardalan, Farid; Badve, Sunil; Baharun, Nurkhairul Bariyah; Bellolio, Enrique R; Bheemaraju, Vydehi; Blenman, Kim Rm; Botinelly Mendonça Fujimoto, Luciana; Burgues, Octavio; Cheang, Maggie Chon U; Ciompi, Francesco; Cooper, Lee Ad; Coosemans, An; Corredor, Germán; Dantas Portela, Flavio Luis; Deman, Frederik; Demaria, Sandra; Dudgeon, Sarah N; Elghazawy, Mahmoud; Ely, Scott; Fernandez-Martín, Claudio; Fineberg, Susan; Fox, Stephen B; Gallagher, William M; Giltnane, Jennifer M; Gnjatic, Sacha; Gonzalez-Ericsson, Paula I; Grigoriadis, Anita; Halama, Niels; Hanna, Matthew G; Harbhajanka, Aparna; Hardas, Alexandros; Hart, Steven N; Hartman, Johan; Hewitt, Stephen; Hida, Akira I; Horlings, Hugo M; Husain, Zaheed; Hytopoulos, Evangelos; Irshad, Sheeba; Janssen, Emiel Am; Kahila, Mohamed; Kataoka, Tatsuki R; Kawaguchi, Kosuke; Kharidehal, Durga; Khramtsov, Andrey I; Kiraz, Umay; Kirtani, Pawan; Kodach, Liudmila L; Korski, Konstanty; Kovács, Anikó; Laenkholm, Anne-Vibeke; Lang-Schwarz, Corinna; Larsimont, Denis; Lennerz, Jochen K; Lerousseau, Marvin; Li, Xiaoxian; Ly, Amy; Madabhushi, Anant; Maley, Sai K; Manur Narasimhamurthy, Vidya; Marks, Douglas K; McDonald, Elizabeth S; Mehrotra, Ravi; Michiels, Stefan; Minhas, Fayyaz Ul Amir Afsar; Mittal, Shachi; Moore, David A; Mushtaq, Shamim; Nighat, Hussain; Papathomas, Thomas; Penault-Llorca, Frederique; Perera, Rashindrie D; Pinard, Christopher J; Pinto-Cardenas, Juan Carlos; Pruneri, Giancarlo; Pusztai, Lajos; Rahman, Arman; Rajpoot, Nasir Mahmood; Rapoport, Bernardo Leon; Rau, Tilman T; Reis-Filho, Jorge S; Ribeiro, Joana M; Rimm, David; Salomon, Anne-Vincent; Salto-Tellez, Manuel; Saltz, Joel; Sayed, Shahin; Siziopikou, Kalliopi P; Sotiriou, Christos; Stenzinger, Albrecht; Sughayer, Maher A; Sur, Daniel; Symmans, Fraser; Tanaka, Sunao; Taxter, Timothy; Tejpar, Sabine; Teuwen, Jonas; Thompson, E Aubrey; Tramm, Trine; Tran, William T; van der Laak, Jeroen; van Diest, Paul J; Verghese, Gregory E; Viale, Giuseppe; Vieth, Michael; Wahab, Noorul; Walter, Thomas; Waumans, Yannick; Wen, Hannah Y; Yang, Wentao; Yuan, Yinyin; Adams, Sylvia; Bartlett, John Mark Seaverns; Loibl, Sibylle; Denkert, Carsten; Savas, Peter; Loi, Sherene; Salgado, Roberto; Specht Stovgaard, Elisabeth; Akturk, Guray; Bouchmaa, Najat (John Wiley & Sons Inc., 2023-08)
    Modern histologic imaging platforms coupled with machine learning methods have provided new opportunities to map the spatial distribution of immune cells in the tumor microenvironment. However, there exists no standardized ...
  • Pitfalls in machine learning-based assessment of tumor-infiltrating lymphocytes in breast cancer: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer 
    Thagaard, Jeppe; Broeckx, Glenn; Page, David B; Jahangir, Chowdhury Arif; Verbandt, Sara; Kos, Zuzana; Gupta, Rajarsi; Khiroya, Reena; Abduljabbar, Khalid; Acosta Haab, Gabriela; Acs, Balazs; Akturk, Guray; Almeida, Jonas S; Alvarado-Cabrero, Isabel; Amgad, Mohamed; Azmoudeh-Ardalan, Farid; Badve, Sunil; Baharun, Nurkhairul Bariyah; Balslev, Eva; Bellolio, Enrique R; Bheemaraju, Vydehi; Blenman, Kim Rm; Botinelly Mendonça Fujimoto, Luciana; Bouchmaa, Najat; Burgues, Octavio; Chardas, Alexandros; Chon U Cheang, Maggie; Ciompi, Francesco; Cooper, Lee Ad; Coosemans, An; Corredor, Germán; Dahl, Anders B; Dantas Portela, Flavio Luis; Deman, Frederik; Demaria, Sandra; Doré Hansen, Johan; Dudgeon, Sarah N; Ebstrup, Thomas; Elghazawy, Mahmoud; Fernandez-Martín, Claudio; Fox, Stephen B; Gallagher, William M; Giltnane, Jennifer M; Gnjatic, Sacha; Gonzalez-Ericsson, Paula I; Grigoriadis, Anita; Halama, Niels; Hanna, Matthew G; Harbhajanka, Aparna; Hart, Steven N; Hartman, Johan; Hauberg, Søren; Hewitt, Stephen; Hida, Akira I; Horlings, Hugo M; Husain, Zaheed; Hytopoulos, Evangelos; Irshad, Sheeba; Janssen, Emiel Am; Kahila, Mohamed; Kataoka, Tatsuki R; Kawaguchi, Kosuke; Kharidehal, Durga; Khramtsov, Andrey I; Kiraz, Umay; Kirtani, Pawan; Kodach, Liudmila L; Korski, Konstanty; Kovács, Anikó; Laenkholm, Anne-Vibeke; Lang-Schwarz, Corinna; Larsimont, Denis; Lennerz, Jochen K; Lerousseau, Marvin; Li, Xiaoxian; Ly, Amy; Madabhushi, Anant; Maley, Sai K; Manur Narasimhamurthy, Vidya; Marks, Douglas K; McDonald, Elizabeth S; Mehrotra, Ravi; Michiels, Stefan; Minhas, Fayyaz Ul Amir Afsar; Mittal, Shachi; Moore, David A; Mushtaq, Shamim; Nighat, Hussain; Papathomas, Thomas; Penault-Llorca, Frederique; Perera, Rashindrie D; Pinard, Christopher J; Pinto-Cardenas, Juan Carlos; Pruneri, Giancarlo; Pusztai, Lajos; Rahman, Arman; Rajpoot, Nasir Mahmood; Rapoport, Bernardo Leon; Rau, Tilman T; Reis-Filho, Jorge S; Ribeiro, Joana M; Rimm, David; Roslind, Anne; Vincent-Salomon, Anne; Salto-Tellez, Manuel; Saltz, Joel; Sayed, Shahin; Scott, Ely; Siziopikou, Kalliopi P; Sotiriou, Christos; Stenzinger, Albrecht; Sughayer, Maher A; Sur, Daniel; Fineberg, Susan; Symmans, Fraser; Tanaka, Sunao; Taxter, Timothy; Tejpar, Sabine; Teuwen, Jonas; Thompson, E Aubrey; Tramm, Trine; Tran, William T; van der Laak, Jeroen; van Diest, Paul J; Verghese, Gregory E; Viale, Giuseppe; Vieth, Michael; Wahab, Noorul; Walter, Thomas; Waumans, Yannick; Wen, Hannah Y; Yang, Wentao; Yuan, Yinyin; Zin, Reena Md; Adams, Sylvia; Bartlett, John; Loibl, Sibylle; Denkert, Carsten; Savas, Peter; Loi, Sherene; Salgado, Roberto; Specht Stovgaard, Elisabeth (John Wiley & Sons Inc., 2023-08)
    The clinical significance of the tumor-immune interaction in breast cancer is now established, and tumor-infiltrating lymphocytes (TILs) have emerged as predictive and prognostic biomarkers for patients with triple-negative ...
  • Sex differences in febrile children with respiratory symptoms attending European emergency departments: An observational multicenter study 
    Tan, Chantal D.; el Ouasghiri, Soufiane; von Both, Ulrich; Carrol, Enitan D.; Emonts, Marieke; van der Flier, Michiel; de Groot, Ronald; Herberg, Jethro; Kohlmaier, Benno; Levin, Michael; Lim, Emma; Maconochie, Ian K.; Martinon-Torres, Federico; Nijman, Ruud G.; Pokorn, Marko; Rivero-Calle, Irene; Tsolia, Maria; Vermont, Clementien L.; Zenz, Werner; Zavadska, Dace; Moll, Henriette A.; Zachariasse, Joany M. (Public Library of Science, 2022-08-03)
    Objective To assess sex differences in presentation and management of febrile children with respiratory symptoms attending European Emergency Departments. Design and setting An observational study in twelve Emergency ...
  • Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations 
    EUCLIDS Consortium (Cell Press, 2022-09-01)
    Neisseria meningitidis protects itself from complement-mediated killing by binding complement factor H (FH). Previous studies associated susceptibility to meningococcal disease (MD) with variation in CFH, but the causal ...
  • A comprehensive multi-domain dataset for mitotic figure detection 
    Aubreville, Marc; Wilm, Frauke; Stathonikos, Nikolas; Breininger, Katharina; Donovan, Taryn A; Jabari, Samir; Veta, Mitko; Ganz, Jonathan; Ammeling, Jonas; van Diest, Paul J; Klopfleisch, Robert; Bertram, Christof A (Nature Research, 2023-12)
    The prognostic value of mitotic figures in tumor tissue is well-established for many tumor types and automating this task is of high research interest. However, especially deep learning-based methods face performance ...
  • Guideline adherence in febrile children below 3 months visiting European Emergency Departments: an observational multicenter study 
    PERFORM consortium (Personalised Risk assessment in febrile children to optimize Real-life Management across the European Union) (Springer-Verlag, 2022-12)
    Febrile children below 3 months have a higher risk of serious bacterial infections, which often leads to extensive diagnostics and treatment. There is practice variation in management due to differences in guidelines and ...
  • Febrile illness in high-risk children: a prospective, international observational study 
    van der Velden, Fabian J.S.; de Vries, Gabriella; Martin, Alexander; Lim, Emma; von Both, Ulrich; Kolberg, Laura; Carrol, Enitan D.; Khanijau, Aakash; Herberg, Jethro A.; De, Tisham; Galassini, Rachel; Kuijpers, Taco W.; Martinón-Torres, Federico; Rivero-Calle, Irene; Vermont, Clementien L.; Hagedoorn, Nienke N.; Pokorn, Marko; Pollard, Andrew J.; Schlapbach, Luregn J.; Tsolia, Maria; Elefhteriou, Irini; Yeung, Shunmay; Zavadska, Dace; Fink, Colin; Voice, Marie; Zenz, Werner; Kohlmaier, Benno; Agyeman, Philipp K.A.; Usuf, Effua; Secka, Fatou; de Groot, Ronald; Levin, Michael; van der Flier, Michiel; Emonts, Marieke; PERFORM Consortium (Springer-Verlag, 2023-02)
    To assess and describe the aetiology and management of febrile illness in children with primary or acquired immunodeficiency at high risk of serious bacterial infection, as seen in emergency departments in tertiary hospitals. ...
  • Hemostasis Proteins in Invasive Meningococcal and Nonmeningococcal Infections: A Prospective Multicenter Study 
    Hagedoorn, Nienke N.; Boeddha, Navin P.; Kohlfuerst, Daniela S.; Anderson, Suzanne; Carrol, Enitan D.; Agapow, Paul; Van Der Flier, Michiel; Hazelzet, Jan; Herberg, Jethro; Kuijpers, Taco; Levin, Michael; Martinon-Torres, Federico; Van Rijswijk, Angelique; Schlapbach, Luregn J.; Vermont, Clementien; Zenz, Werner; Dik, Willem A.; Driessen, Gertjan; Emonts, Marieke (Lippincott Williams & Wilkins, 2022-12-01)
    OBJECTIVES: We aimed to describe the variation of hemostasis proteins in children with bacterial infections due to different pathogens (Neisseria meningitidis, Streptococcus pneumoniae, Staphylococcus aureus, and group A ...
  • Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians 
    Dewez, Juan Emmanuel; Pembrey, Lucy; Nijman, Ruud G.; del Torso, Stefano; Grossman, Zachi; Hadjipanayis, Adamos; Van Esso, Diego; Lim, Emma; Emonts, Marieke; Burns, James; Gras-LeGuen, Christèle; Kohlfuerst, Daniela; Dornbusch, Hans Jürgen; Brengel-Pesce, Karen; Mallet, Francois; von Both, Ulrich; Tsolia, Maria; Eleftheriou, Irini; Zavadska, Dace; de Groot, Ronald; van der Flier, Michiel; Moll, Henriëtte; Hagedoorn, Nienke; Borensztajn, Dorine; Oostenbrink, Rianne; Kuijpers, Taco; Pokorn, Marko; Vincek, Katarina; Martinó n-Torres, Federico; Rivero, Irene; Agyeman, Philipp; Carrol, Enitan D.; Paulus, Stéphane; Cunnington, Aubrey; Herberg, Jethro; Levin, Michael; Mujkić, Aida; Geitmann, Karin; Da Dalt, Liviana; Valiulis, Arunas; Lapatto, Risto; Syridou, Garyfallia; Altorjai, Péter; Torpiano, Paul; Størdal, Ketil; Illy, Károly; Mazur, Artur; Spreitzer, Mateja Vintar; Rios, Joana; Wyder, Corinne (Public Library of Science, 2022-12-20)
    Background Point-of-care-tests (POCTs) have been advocated to optimise care in patients with infections but their actual use varies. This study aimed to estimate the variability in the adoption of current POCTs by ...
  • European study confirms the combination of fever and petechial rash as an important warning sign for childhood sepsis and meningitis 
    PERFORM consortium (Personalised Risk assessment in febrile children to optimise Real-life Management across the European Union) (Wiley-Blackwell, 2023-05)
    Aim: This study investigated febrile children with petechial rashes who presented to European emergency departments (EDs) and investigated the role that mechanical causes played in diagnoses. Methods: Consecutive patients ...
  • Bi-Directional Interactions between Glucose-Lowering Medications and Gut Microbiome in Patients with Type 2 Diabetes Mellitus: A Systematic Review 
    Li, Ruolin; Shokri, Fereshteh; Rincon, Alejandro Lopez; Rivadeneira, Fernando; Medina-Gomez, Carolina; Ahmadizar, Fariba (Multidisciplinary Digital Publishing Institute (MDPI), 2023-08-01)
    Background: Although common drugs for treating type 2 diabetes (T2D) are widely used, their therapeutic effects vary greatly. The interaction between the gut microbiome and glucose-lowering drugs is one of the main ...