Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Autor: Vorsteveld EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Diepstra H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hoenselaar E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Engelen JS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Weiss MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde K; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Henriet SSV; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Hoof E; Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands., Idressi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Issekutz TB; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology and Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Te Loo M; Department of Pediatric Hematology, Amalia children's hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., Potjewijd J; Department of Internal Medicine, Division of Experimental and Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Sarhan NT; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Slot MC; Department of Allergology and Clinical Immunology, Maastricht UMC+, Maastricht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Thijs H; Department of Pediatrics, Gelre Ziekenhuizen Zutphen, The Netherlands., Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Vanhoutte EK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van de Veerdonk F; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., van Well G; Department of Paediatrics, Maastricht University Medical Center, MosaKids Children's Hospital, Maastricht, The Netherlands., Netea MG; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Immunology and Metabolism, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.

Publikováno v: Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05.

Long-Term Risk of Skin Cancer Among Childhood Cancer Survivors: A DCOG-LATER Cohort Study

Autor: Teepen, JC, Kok, JL, Kremer, LC, Tissing, WJ, Van den Heuvel - Eibrink, Marry, Loonen, JJ, Bresters, D, van der Pal, HJ, Versluys, B, van Dulmen-den Broeder, E, Nijsten, Tamar, Hauptmann, M, Hollema, N, Dolsma, WV, van Leeuwen, FE, Ronckers, CM, Caron, HN, Daniels, LA, Bruggink, AH, Grootenhuis, MA, den Hartogh, JG, te Loo, M, Jaspers, MWM, Neggers, S.J.C.M.M., Schaapveld, M

Publikováno v: Journal of the National Cancer Institute, 111, 8, pp. 845-853
Journal of the National Cancer Institute, 111(8):djy212, 845-853. Oxford University Press
Teepen, J C, Kok, J L, Kremer, L C, Tissing, W J E, van den Heuvel-Eibrink, M M, Loonen, J J, Bresters, D, van der Pal, H J, Versluys, B, van Dulmen-den Broeder, E, Nijsten, T, Hauptmann, M, Hollema, N, Dolsma, W V, van Leeuwen, F E & Ronckers, C C M 2019, ' Long-Term Risk of Skin Cancer among Childhood Cancer Survivors: A DCOG-LATER Cohort Study ', Journal of the National Cancer Institute, vol. 111, no. 8, pp. 845-853 . https://doi.org/10.1093/jnci/djy212
Journal of the National Cancer Institute, 111, 845-853
Journal of the National Cancer Institute, 111(8), 845
Journal of the National Cancer Institute, 111(8), 845-853. Oxford University Press
Journal of the National Cancer Institute, 111(8):212, 845-853. Oxford University Press

Background Skin cancer is common after radiotherapy among childhood cancer survivors (CCSs). We studied risks and risk factors for subsequent skin cancers, with emphasis on radiation dose, exposed skin surface area, and chemotherapeutic agents. Metho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e127d81b70ee6f451e7aa507c923e190
https://doi.org/10.1093/jnci/djy212

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network

Autor: Holm A, Te Loo M, Schultze Kool L, Salminen P, Celis V, Eulalia Baselga Torres, Duignan S, Dvorakova V, Irvine AD, Boon LM, Vikkula M, Ghaffarpour N, Niemeyer CM, Rössler J, Kapp FG

Publikováno v: Frontiers in pediatrics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

Extensive lymphatic malformations (LMs) of the head and neck region may require tracheostomy to secure the airway. Treatment of these life-threatening LMs is usually multimodal and includes sclerotherapy and surgery, among others. Recently, systemic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::57ac8dbda7ee4972c6c9f1671f72fc27
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20194

Weibel-Palade bodies: function and role in thrombotic thrombocytopenic purpura and in diarrhea phase of STEC-hemolytic uremic syndrome.

Autor: Monnens L; Department of Physiology, Radboud University Centre, Nijmegen, the Netherlands. leo.monnens@radboudumc.nl.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2025 Jan; Vol. 40 (1), pp. 5-13. Date of Electronic Publication: 2024 Jul 05.

Response-guided chemotherapy for pediatric acute myeloid leukemia without hematopoietic stem cell transplantation in first complete remission: Results from protocol DB AML-01.

Autor: De Moerloose B; Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.; Cancer Research Institute Ghent, Ghent, Belgium., Reedijk A; Dutch Childhood Oncology Group (DCOG), The Hague, the Netherlands., de Bock GH; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Lammens T; Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.; Cancer Research Institute Ghent, Ghent, Belgium., de Haas V; Dutch Childhood Oncology Group (DCOG), The Hague, the Netherlands., Denys B; Department of Clinical Chemistry, Microbiology and Immunology, Ghent University Hospital, Ghent, Belgium., Dedeken L; Department of Pediatric Hematology Oncology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium., van den Heuvel-Eibrink MM; Department of Pediatric Hematology-Oncology, Princess Máxima Center, Utrecht, the Netherlands.; Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands., Te Loo M; Department of Pediatric Hematology-Oncology, Radboud University Medical Center, Nijmegen, the Netherlands., Uyttebroeck A; Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium., Van Damme A; Department of Pediatrics, University Hospital Saint-Luc, Brussels, Belgium., Van der Werff-Ten Bosch J; Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium., Zsiros J; Department of Pediatric Oncology, Amsterdam Medical Center, Emma Children's Hospital, Amsterdam, the Netherlands., Kaspers G; Dutch Childhood Oncology Group (DCOG), The Hague, the Netherlands.; Department of Pediatric Hematology-Oncology, Princess Máxima Center, Utrecht, the Netherlands.; Department of Pediatric Oncology, VU University Medical Center, Amsterdam, the Netherlands., de Bont E; Dutch Childhood Oncology Group (DCOG), The Hague, the Netherlands.; Department of Pediatric Hematology-Oncology, University Medical Center Groningen, Beatrix Children's Hospital, University of Groningen, Groningen, the Netherlands.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2019 May; Vol. 66 (5), pp. e27605. Date of Electronic Publication: 2019 Jan 08.