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1. A multidimensional analysis reveals distinct immune phenotypes and the composition of immune aggregates in pediatric acute myeloid leukemia

Author

Koedijk, Joost B., van der Werf, Inge, Penter, Livius, Vermeulen, Marijn A., Barneh, Farnaz, Perzolli, Alicia, Meesters-Ensing, Joyce I., Metselaar, Dennis S., Margaritis, Thanasis, Fiocco, Marta, de Groot-Kruseman, Hester A., Moeniralam, Rubina, Bang Christensen, Kristina, Porter, Billie, Pfaff, Kathleen, Garcia, Jacqueline S., Rodig, Scott J., Wu, Catherine J., Hasle, Henrik, Nierkens, Stefan, Belderbos, Mirjam E., Zwaan, C. Michel, and Heidenreich, Olaf

Published
2024
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3. DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients

Author

Glenthøj, Andreas, Rasmussen, Andreas Ørslev, Bendtsen, Selma Kofoed, Hasle, Henrik, Hoffmann, Marianne, Rieneck, Klaus, Dziegiel, Morten Hanefeld, Sjö, Lene Dissing, Frederiksen, Henrik, Hansen, Dennis Lund, Fassi, Daniel El, Rathe, Mathias, Jensen, Peter-Diedrich Matthias, Winther-Larsen, Anne, Nielsen, Christian, Olsen, Marianne, Toft, Nina, Lorenzen, Mads Okkels Birk, Jensen, Lise Heilmann, Gudbrandsdottir, Sif, Helby, Jens, Rossing, Maria, van Wijk, Richard, and Petersen, Jesper

Published
2024
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7. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

Author

Elitzur, Sarah, Shiloh, Ruth, Loeffen, Jan L. C., Pastorczak, Agata, Takagi, Masatoshi, Bomken, Simon, Baruchel, Andre, Lehrnbecher, Thomas, Tasian, Sarah K., Abla, Oussama, Arad-Cohen, Nira, Astigarraga, Itziar, Ben-Harosh, Miriam, Bodmer, Nicole, Brozou, Triantafyllia, Ceppi, Francesco, Chugaeva, Liliia, Dalla Pozza, Luciano, Ducassou, Stephane, Escherich, Gabriele, Farah, Roula, Gibson, Amber, Hasle, Henrik, Hoveyan, Julieta, Jacoby, Elad, Jazbec, Janez, Junk, Stefanie, Kolenova, Alexandra, Lazic, Jelena, Lo Nigro, Luca, Mahlaoui, Nizar, Miller, Lane, Papadakis, Vassilios, Pecheux, Lucie, Pillon, Marta, Sarouk, Ifat, Stary, Jan, Stiakaki, Eftichia, Strullu, Marion, Tran, Thai Hoa, Ussowicz, Marek, Verdu-Amoros, Jaime, Wakulinska, Anna, Zawitkowska, Joanna, Stoppa-Lyonnet, Dominique, Taylor, A. Malcolm, Shiloh, Yosef, Izraeli, Shai, Minard-Colin, Veronique, Schmiegelow, Kjeld, Nirel, Ronit, Attarbaschi, Andishe, and Borkhardt, Arndt

Published
2024
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8. Azacitidine (Vidaza®) in Pediatric Patients with Relapsed Advanced MDS and JMML: Results of a Phase I/II Study by the ITCC Consortium and the EWOG-MDS Group (Study ITCC-015)

Author

Rubio-San-Simón, Alba, van Eijkelenburg, Natasha K. A., Hoogendijk, Raoull, Hasle, Henrik, Niemeyer, Charlotte M., Dworzak, Michael N., Zecca, Marco, Lopez-Yurda, Marta, Janssen, Julie M., Huitema, Alwin D. R., van den Heuvel-Eibrink, Marry M., Laille, Eric J., van Tinteren, Harm, and Zwaan, Christian M.

Published
2023
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9. Risk of severe esophageal stricture among childhood cancer survivors – A population-based case-cohort study within the Adult Life after Childhood Cancer in Scandinavia (ALiCCS)

Author

Hansen, Helena K., Asdahl, Peter H., Christensen, Jane, Pedersen, Camilla, Krøyer, Anja, Pontoppidan, Celina S., Holmqvist, Anna S., Hjorth, Lars, Wiebe, Thomas, Gudmundsdottir, Thorgerdur, de fine Licht, Sofie, Lassen-Ramshad, Yasmin, Seiersen, Klaus, Jørgensen, Morten, Laursen, Michael RT, Øfstaas, Hilde, Lähteenmäki, Päivi M., Smith, Susan A., Howell, Rebecca, Rechnitzer, Catherine, Hasle, Henrik, Winther, Jeanette F., and Kenborg, Line

Published
2024
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10. Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

Author

Abboud, Miguel R, Aytac, Sevkiye Selin, Bosse, Franziskus Johannes, Choo, Sharon, Drabko, Katarzyna, Onkologii, Klinika, Elfeky, Reem, El-Ghoneimy, Dalia Helmy, Fadoo, Zehra, Greenwood, Tatiana, Gustafsson, Britt, Hagelberg, Stefan, Hasle, Henrik, Hästbacka, Johanna, Jadrešin, Oleg, Jädersten, Martin, Kaya, Zuhre, Lecumberri, Ranon, Marques, Laura, Mushtaq, Naureen, Naqvi, Ahmed, Neves, João Farela, Nunes, Susana, Paucar, Martin, Payne, Jeanette H., Rascon, Jelena, Ruuska, Terhi Susanna, Saribeyoglu, Ebru Tugrul, Sundin, Mikael C., Svedenkrans, Jenny, Świderska, Natalia, Tedgård, Ulf, Tvedt, Tor Henrik, Ünüvar, Ayşegül, Van Laar, Jan A. M., Weitzman, Sheila, Winiarski, Jacek, Yaseen, Muhamma Zohaib, Yildiz, Mehmet, Zantomio, Daniela, Øra, Ingrid, Øverland, Torstein, Chiang, Samuel C. C., Covill, Laura E., Tesi, Bianca, Campbell, Tessa M., Schlums, Heinrich, Nejati-Zendegani, Jelve, Mördrup, Karina, Wood, Stephanie, Theorell, Jakob, Sekine, Takuya, Al-Herz, Waleed, Akar, Himmet Haluk, Belen, Fatma Burcu, Chan, Mei Yoke, Devecioglu, Omer, Aksu, Tekin, Ifversen, Marianne, Malinowska, Iwona, Sabel, Magnus, Unal, Ekrem, Unal, Sule, Introne, Wendy J., Krzewski, Konrad, Gilmour, Kimberly C., Ehl, Stephan, Ljunggren, Hans-Gustaf, Nordenskjöld, Magnus, Horne, AnnaCarin, Henter, Jan-Inge, Meeths, Marie, and Bryceson, Yenan T.

Published
2024
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11. A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome

Author

Badolato, Raffaele, Alsina, Laia, Azar, Antoine, Bertrand, Yves, Bolyard, Audrey A., Dale, David, Deyà-Martínez, Àngela, Dickerson, Kathryn E., Ezra, Navid, Hasle, Henrik, Kang, Hyoung Jin, Kiani-Alikhan, Sorena, Kuijpers, Taco W., Kulagin, Alexander, Langguth, Daman, Levin, Carina, Neth, Olaf, Olbrich, Peter, Peake, Jane, Rodina, Yulia, Rutten, Caroline E., Shcherbina, Anna, Tarrant, Teresa K., Vossen, Matthias G., Wysocki, Christian A., Belschner, Andrea, Bridger, Gary J., Chen, Kelly, Dubuc, Susan, Hu, Yanping, Jiang, Honghua, Li, Sunny, MacLeod, Rick, Stewart, Murray, Taveras, Arthur G., Yan, Tina, and Donadieu, Jean

Published
2024
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12. Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia

Author

van Weelderen, Romy E., Harrison, Christine J., Klein, Kim, Jiang, Yilin, Abrahamsson, Jonas, Alonzo, Todd, Aplenc, Richard, Arad-Cohen, Nira, Bart-Delabesse, Emmanuelle, Buldini, Barbara, De Moerloose, Barbara, Dworzak, Michael N., Elitzur, Sarah, Fernández Navarro, José M., Gamis, Alan, Gerbing, Robert B., Goemans, Bianca F., de Groot-Kruseman, Hester A., Guest, Erin, Ha, Shau-Yin, Hasle, Henrik, Kelaidi, Charikleia, Lapillonne, Hélène, Leverger, Guy, Locatelli, Franco, Miyamura, Takako, Norén-Nyström, Ulrika, Polychronopoulou, Sophia, Rasche, Mareike, Rubnitz, Jeffrey E., Stary, Jan, Tierens, Anne, Tomizawa, Daisuke, Zwaan, C. Michel, and Kaspers, Gertjan J. L.

Published
2024
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13. A novel serum calprotectin (MRP8/14) particle-enhanced immuno-turbidimetric assay (sCAL turbo) helps to differentiate systemic juvenile idiopathic arthritis from other diseases in routine clinical laboratory settings

Author

Foell, Dirk, Saers, Melanie, Park, Carolin, Brix, Ninna, Glerup, Mia, Kessel, Christoph, Wittkowski, Helmut, Hinze, Claas, Berntson, Lillemor, Fasth, Anders, Myrup, Charlotte, Nordal, Ellen, Rygg, Marite, Hasle, Henrik, Albertsen, Birgitte Klug, Herlin, Troels, Holzinger, Dirk, Niederberger, Christian, and Schlüter, Bernhard

Published
2023
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16. Survival outcomes of children with relapsed or refractory myeloid leukemia associated with Down syndrome

Author

Raghuram, Nikhil, Hasegawa, Daisuke, Nakashima, Kentaro, Rahman, Syaza, Antoniou, Evangelia, Skajaa, Torjus, Merli, Pietro, Verma, Anupam, Rabin, Karen R., Aftandilian, Catherine, Kotecha, Rishi S., Cheuk, Daniel, Jahnukainen, Kirsi, Kolenova, Alexandra, Balwierz, Walentyna, Norton, Alice, O’Brien, Maureen, Cellot, Sonia, Chopek, Ashley, Arad-Cohen, Nira, Goemans, Bianca, Rojas-Vasquez, Marta, Ariffin, Hany, Bartram, Jack, Kolb, E. Anders, Locatelli, Franco, Klusmann, Jan-Henning, Hasle, Henrik, McGuire, Bryan, Hasnain, Afia, Sung, Lillian, and Hitzler, Johann

Published
2023
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17. Second allogeneic stem cell transplantation can rescue a significant proportion of patients with JMML relapsing after first allograft

Author

Vinci, Luca, Flotho, Christian, Noellke, Peter, Lebrecht, Dirk, Masetti, Riccardo, de Haas, Valerie, De Moerloose, Barbara, Dworzak, Michael, Hasle, Henrik, Güngör, Tayfun, Starý, Jan, Turkiewicz, Dominik, Ussowicz, Marek, de Heredia, Cristina Diaz, Buechner, Jochen, Jahnukainen, Kirsi, Kallay, Krisztian, Bodova, Ivana, Smith, Owen P., Zecca, Marco, Bresters, Dorine, Lang, Peter, Masmas, Tania Nicole, Meisel, Roland, Pichler, Herbert, Erlacher, Miriam, Göhring, Gudrun, Locatelli, Franco, Strahm, Brigitte, Niemeyer, Charlotte M., and Yoshimi, Ayami

Published
2023
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19. European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Author

Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C., Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M., Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Published
2023
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20. Hypodiploidy has unfavorable impact on survival in pediatric acute myeloid leukemia: an I-BFM Study Group collaboration

Author

Hammer, Anne Sofie Borg, Juul-Dam, Kristian Løvvik, Sandahl, Julie Damgaard, Abrahamsson, Jonas, Czogala, Malgorzata, Delabesse, Emmanuelle, Haltrich, Iren, Jahnukainen, Kirsi, Kolb, E. Anders, Kovács, Gábor, Leverger, Guy, Locatelli, Franco, Masetti, Riccardo, Noren-Nyström, Ulrika, Raimondi, Susana C., Rasche, Mareike, Reinhardt, Dirk, Taki, Tomohiko, Tomizawa, Daisuke, Zeller, Bernward, Hasle, Henrik, and Kjeldsen, Eigil

Published
2023
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21. Upregulation of Insulin-like Growth Factor-I in Response to Chemotherapy in Children with Acute Lymphoblastic Leukemia.

Author

Kocadag, Helin Berna, Weischendorff, Sarah, De Pietri, Silvia, Nielsen, Claus Henrik, Rathe, Mathias, Als-Nielsen, Bodil, Hasle, Henrik, Juul, Anders, Müller, Klaus, and Sørum, Maria Ebbesen

Subjects
SOMATOMEDIN C, LYMPHOBLASTIC leukemia, CARRIER proteins, CHILDHOOD cancer, PEDIATRIC oncology
Abstract

The treatment of childhood cancer is challenged by toxic side effects mainly due to chemotherapy-induced organ damage and infections, which are accompanied by severe systemic inflammation. Insulin-like growth factor I (IGF-I) is a key regulating factor in tissue repair. This study investigated associations between the circulating IGF-I levels and chemotherapy-related toxicity in pediatric acute lymphoblastic leukemia (ALL). In this prospective study, we included 114 patients (age: 1–17 years) with newly diagnosed ALL treated according to The Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL2008 protocol between 2013 and 2018. The patients' plasma levels of IGF-I, and the primary binding protein, IGFBP-3, were measured weekly during the first six weeks of treatment, including the induction therapy. The patients' systemic inflammation was monitored by their C-reactive protein (CRP) and interleukin (IL)-6 levels and their intestinal epithelial damage by their plasma citrulline levels. IGF-I and IGFBP-3 were converted into sex-and age-adjusted standard deviation scores (SDS) using 1621 healthy children as reference. At ALL diagnosis, IGF-I levels were decreased (median (quartiles): −1.2 SDS (−1.9 to −0.5), p = 0.001), but increased significantly following the initiation of chemotherapy, peaking on day 8 (0.0 SDS (from −0.8 to 0.7), p < 0.001). This increase correlated with the levels of CRP (rho = 0.37, p < 0.001) and IL-6 (rho = 0.39, p = 0.03) on day 15, when these markers reached maximum levels. A larger IGF-I increase from day 1 to 15 correlated with a slower recovery rate of the intestinal damage marker citrulline from day 15 to 29 (rho = −0.28, p = 0.01). Likewise, IGFBP-3 was reduced at diagnosis, followed by an increase after treatment initiation, and was highly correlated with same-day IGF-I levels. This study demonstrates a chemotherapy-induced increase in IGF-I, with a response that appears to reflect the severity of tissue damage and systemic inflammation, preceding CRP and IL-6 increases. IGF-I may have potential as an early reactive biomarker for acute toxicity in patients with ALL. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Psychiatric disorders in childhood cancer survivors in Denmark, Finland, and Sweden: a register-based cohort study from the SALiCCS research programme

Author

Frederiksen, Line Elmerdahl, Erdmann, Friederike, Mader, Luzius, Mogensen, Hanna, Pedersen, Camilla, Kenborg, Line, Bautz, Andrea, Talbäck, Mats, Hirvonen, Elli, Nielsen, Thomas Tjørnelund, Andersen, Elisabeth Anne Wreford, Holmqvist, Anna Sällfors, Jørgensen, Ole Sylvester, Jepsen, Jens Richardt Møllegaard, Malila, Nea, Hasle, Henrik, Madanat-Harjuoja, Laura, Feychting, Maria, and Winther, Jeanette Falck

Published
2022
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25. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., and Wlodarski, Marcin W.

Published
2021
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31. Genetic polymorphisms in IL‐2, IL‐10 and FOXP3 are associated with autoimmune neutropenia in early childhood and autoantibody specificity in a Danish cohort.

Author

Kløve‐Mogensen, Kirstine, Steffensen, Rudi, Masmas, Tania Nicole, Glenthøj, Andreas, Jensen, Christina Friis, Ratcliffe, Paul, Höglund, Petter, Hasle, Henrik, Nielsen, Kaspar René, and Haunstrup, Thure Mors

Subjects
GENETIC polymorphisms, REGULATORY T cells, INTERLEUKIN-10, SINGLE nucleotide polymorphisms, AUTOANTIBODIES
Abstract

Autoimmune neutropenia (AIN) in early childhood is characterized by chronic neutropenia and positivity for human neutrophil antibodies (HNA), resulting in the excessive destruction of neutrophils. The association between regulatory T cells (Tregs) and AIN has been described, and in this study, we investigated three Treg‐associated genes, IL‐2, IL‐10 and FOXP3. The frequencies of three single nucleotide polymorphisms (SNPs) in IL‐2 −330T>G (rs2069762), +114G>T (rs2069763) and IVS3‐116 A>G (rs2069772), four SNPs in IL‐10 −3575T>A (rs1800890), −1082G>A (rs1800896), −819 C>T (rs1800871) and −592 C>A (rs1800872) and three SNPs in FOXP3 –3499 A>G (rs3761547), −3279 C>A (rs3761548) and −924 A>G (rs2232365) were compared between 166 Danish AIN patients and 358 healthy controls. Disease association was observed for IL‐2 IVS3‐116 GG (p = 0.0081, OR = 0.35 [0.15–0.80]), IL‐10 −3575 TT (p = 0.0078, OR = 1.71 [1.16–2.54]) and IL‐10 −1082 AA (p = 0.014, OR = 1.76 [1.14–2.72]) in all patients and FOXP3 –924 (p = 0.0005, A OR = 0.41 [0.25–0.68] and G OR = 2.42 [1.46–4.01]) in male patients. None of the associations were linked to antibody specificity. Disease‐associated haplotypes were observed in IL‐2 and FOXP3. IL‐2 −330T/+114 T/IVS3‐116A was associated with anti‐FcγRIIIb‐positive patients (p = 0.012, OR = 2.07 [1.18–3.62]). FOXP3 –3499A/–3279C/−924A was associated with anti‐HNA‐1a‐positive male patients (p = 0.016, OR = 0.41 [0.20–0.83]), and ACG was associated with female patients, both in the combined group (p = 0.006, OR = NA) and the anti‐FcγRIIIb‐positive group (p = 0.002, OR = NA). We conclude that our findings reveal a correlation between SNP in Treg‐associated genes and AIN, indicating that AIN could be driven by dysfunction of immune homeostatic‐evolving Tregs. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Mitoxantrone Versus Liposomal Daunorubicin in Induction of Pediatric AML With Risk Stratification Based on Flow Cytometry Measurement of Residual Disease.

Author

Tierens, Anne, Arad-Cohen, Nira, Cheuk, Daniel, De Moerloose, Barbara, Fernandez Navarro, Jose Maria, Hasle, Henrik, Jahnukainen, Kirsi, Juul-Dam, Kristian Løvvik, Kaspers, Gertjan, Kovalova, Zanna, Lausen, Birgitte, Norén-Nyström, Ulrika, Palle, Josefine, Pasauliene, Ramune, Jan Pronk, Cornelis, Saks, Kadri, Zeller, Bernward, and Abrahamsson, Jonas

Published
2024
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35. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, and Wlodarski, Marcin W.

Published
2020
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36. Early mortality in children with cancer in Denmark and Sweden: The role of social background in a setting with universal healthcare.

Author

Mogensen, Hanna, Erdmann, Friederike, Mader, Luzius, Vrelits Sørensen, Gitte, Talbäck, Mats, Tjørnelund Nielsen, Thomas, Hasle, Henrik, Heyman, Mats, Winther, Jeanette Falck, Feychting, Maria, Tettamanti, Giorgio, and Kenborg, Line

Subjects
UNIVERSAL healthcare, CHILD mortality, SOCIAL background, CHILDHOOD cancer, CANCER-related mortality
Abstract

Socioeconomic differences in overall survival from childhood cancer have been shown previously, but the underlying mechanisms remain unclear. We aimed to investigate if social inequalities were seen already for early mortality in settings with universal healthcare. From national registers, all children diagnosed with cancer at ages 0–19 years, during 1991–2014, in Sweden and Denmark, were identified, and information on parental social characteristics was collected. We estimated odds ratios (OR) and 95% confidence intervals (CI) of early mortality (death within 90 days after cancer diagnosis) by parental education, income, employment, cohabitation, and country of birth using logistic regression. For children with acute lymphoblastic leukaemia (ALL), clinical characteristics were obtained. Among 13,926 included children, 355 (2.5%) died within 90 days after diagnosis. Indications of higher early mortality were seen among the disadvantaged groups, with the most pronounced associations observed for maternal education (ORadj_Low_vs_High 1.65 [95% CI 1.22–2.23]) and income (ORadj_Q1(lowest)_vs_Q4(highest) 1.77 [1.25–2.49]). We found attenuated or null associations between social characteristics and later mortality (deaths occurring 1–5 years after cancer diagnosis). In children with ALL, the associations between social factors and early mortality remained unchanged when adjusting for potential mediation by clinical characteristics. In conclusion, this population‐based cohort study indicated differences in early mortality after childhood cancer by social background, also in countries with universal healthcare. Social differences occurring this early in the disease course requires further investigation, also regarding the timing of diagnosis. [ABSTRACT FROM AUTHOR]

Published
2024
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37. The significance of surveillance imaging in children with Ewing sarcoma and osteosarcoma.

Author

Brekke, Scott Greve, Lucke, Arne, Hasle, Henrik, and Baad-Hansen, Thomas

Subjects
EWING'S sarcoma, OSTEOSARCOMA, LUNG tumors, TUMORS in children, END of treatment
Abstract

Primary bone tumors in children and adolescents, while rare, pose significant challenges in diagnosis and management. Children treated for Ewing sarcoma and osteosarcoma are offered a 5-year follow-up program after end of treatment, including radiological surveillance of primary location of tumor and the lungs. There is no consensus regarding how often and how the children should be followed with radiological imaging. This retrospective descriptive study of 69 patients (34 with Ewing sarcoma and 35 with osteosarcoma) investigated the consequences of abnormal findings in 1279 follow-up images. Nine relapses were detected, 4 in the Ewing group (3 local and 1 pulmonary) and 5 in the osteosarcoma group (1 local and 4 pulmonary). Of these, only two patients exhibited symptomatic relapses, with the remainder identified through imaging. The positive predictive value for relapse detection was 0.44 in the Ewing group, and 0.5 in the osteosarcoma group. In the Ewing sarcoma patient image follow-up program, the probability of anomaly detection was 12% (95% CI, 10–15). For osteosarcoma patients, the likelihood was 6% (95% CI, 4–8). Our data indicates that abnormal findings on follow-up images rarely represents relapse of tumor. As the surveillance protocol differs between the patient groups, wherein Ewing sarcoma patients primarily are monitored through MRI while osteosarcoma patients are predominantly tracked via X-rays, there is an increased occurrence of incidental findings in the first group. However, it is imperative to interpret imaging data in conjunction with clinical information, avoiding isolated reliance on imaging results when making treatment decisions. [ABSTRACT FROM AUTHOR]

Published
2024
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38. High‐resolution HLA genotyping identifies risk alleles in both class I and II for primary autoimmune neutropenia in early childhood in a Danish cohort.

Author

Kløve‐Mogensen, Kirstine, Haunstrup, Thure Mors, Masmas, Tania Nicole, Glenthøj, Andreas, Höglund, Petter, Hasle, Henrik, Nielsen, Kaspar René, and Steffensen, Rudi

Subjects
ALLELES, NEUTROPENIA, ANTIBODY specificity, HAPLOTYPES, GENE frequency, LOCUS (Genetics)
Abstract

HLA studies in patients with autoimmune neutropenia (AIN) have shown very consistent results for the association with HLA class II alleles at low resolution. This study aimed to examine the association of both HLA class I and class II at high resolution to clarify the contribution of risk alleles to the disease. A total of 107 AIN patients were genotyped for six loci of HLA class I (HLA‐A, ‐B and ‐C) and class II (HLA‐DRB1, ‐DQB1, and ‐DPB1) genes by a high‐resolution (3‐field, 6‐digit) analysis and compared with HLA typing of 1000 healthy controls. Compared with the controls, the allele frequencies were significantly higher in AIN patients for A*02:17:01G, C*01:02:01G, DRB1*10:01:01G, DRB1*14:01:01G, DRB1*16:01:01G, DQB1*05:02:01G, and DQB1*05:03:01G but lower significant for C*03:04:01G, DRB1*04:01:01G, DRB1*13:02:01G, DQB1*03:02:01G, and DQB1*06:04:01G. Frequently associated two‐locus haplotypes were found to be DRB1*10:01:01G‐DQB1*05:01:01G and DRB1*16:01:01G‐DQB1*05:02:01G, while the S2 (Q‐ or D‐KRAA) shared epitope (SE) was associated with lower risk. A unique association with HLA alleles was observed between patients with specific anti‐HNA‐1a antibodies and broad‐reacting anti‐FcγRIIIb. Anti‐HNA‐1a antibody‐positive patients were associated with C*01:02:01G, DRB1*01:01:01G, DRB1*16:01:01G, DQB1*05:01:01G, DQB1*05:02:01G, DQB1*06:04:01G, and DPB1*10:01:01G; the two‐locus haplotypes DRB1*01:01:01G‐DQB1*05:01:01G and DRB1*16:01:01G‐DQB1*05:02:01G; and the S3P (Q‐ or R‐RRAA) SE. Anti‐FcγRIIIb antibody‐positive patients were associated with the alleles A*02:17:01G, DRB1*10:01:01G, and DQB1*05:02:01G; the haplotypes DRB1*10:01:01G‐DQB1*05:01:01G and DRB1*11:01:02G‐DQB1*05:02:01G; and the S3D (DRRAA) SE. The different associations regarding FcγRIIIb antibody specificities could indicate disease heterogeneity. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Prognostic impact of t(16;21)(p11;q22) and t(16;21)(q24;q22) in pediatric AML: a retrospective study by the I-BFM Study Group

Author

Noort, Sanne, Zimmermann, Martin, Reinhardt, Dirk, Cuccuini, Wendy, Pigazzi, Martina, Smith, Jenny, Ries, Rhonda E., Alonzo, Todd A., Hirsch, Betsy, Tomizawa, Daisuke, Locatelli, Franco, Gruber, Tanja A., Raimondi, Susana, Sonneveld, Edwin, Cheuk, Daniel K., Dworzak, Michael, Stary, Jan, Abrahamsson, Jonas, Arad-Cohen, Nira, Czogala, Malgorzata, De Moerloose, Barbara, Hasle, Henrik, Meshinchi, Soheil, van den Heuvel-Eibrink, Marry, and Zwaan, C. Michel

Published
2018
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40. Risk-adapted treatment of acute promyelocytic leukemia: results from the International Consortium for Childhood APL

Author

Testi, Anna Maria, Pession, Andrea, Diverio, Daniela, Grimwade, David, Gibson, Brenda, de Azevedo, Amilcar Cardoso, Moran, Lorena, Leverger, Guy, Elitzur, Sarah, Hasle, Henrik, ten Bosch, Jutte van der Werff, Smith, Owen, De Rosa, Marisa, Piciocchi, Alfonso, Lo Coco, Francesco, Foà, Robin, Locatelli, Franco, and Kaspers, Gertjan J.L.

Published
2018
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41. Study protocol: rehabilitation including social and physical activity and education in children and teenagers with cancer (RESPECT)

Author

Thorsteinsson, Troels, Helms, Anne, Adamsen, Lis, Andersen, Lars, Andersen, Karen, Christensen, Karl, Hasle, Henrik, Heilmann, Carsten, Hejgaard, Nete, Johansen, Christoffer, Madsen, Marianne, Madsen, Svend, Simovska, Venka, Strange, Birgit, Thing, Lone, Wehner, Peder, Schmiegelow, Kjeld, and Larsen, Hanne

Abstract

Abstract Background During cancer treatment children have reduced contact with their social network of friends, and have limited participation in education, sports, and leisure activities. During and following cancer treatment, children describe school related problems, reduced physical fitness, and problems related to interaction with peers. Methods/design The RESPECT study is a nationwide population-based prospective, controlled, mixed-methods intervention study looking at children aged 6-18 years newly diagnosed with cancer in eastern Denmark (n = 120) and a matched control group in western Denmark (n = 120). RESPECT includes Danish-speaking children diagnosed with cancer and treated at pediatric oncology units in Denmark. Primary endpoints are the level of educational achievement one year after the cessation of first-line cancer therapy, and the value of VO2max one year after the cessation of first-line cancer therapy. Secondary endpoints are quality of life measured by validated questionnaires and interviews, and physical performance. RESPECT includes a multimodal intervention program, including ambassador-facilitated educational, physical, and social interventions. The educational intervention includes an educational program aimed at the child with cancer, the child’s schoolteachers and classmates, and the child’s parents. Children with cancer will each have two ambassadors assigned from their class. The ambassadors visit the child with cancer at the hospital at alternating 2-week intervals and participate in the intervention program. The physical and social intervention examines the effect of early, structured, individualized, and continuous physical activity from diagnosis throughout the treatment period. The patients are tested at diagnosis, at 3 and 6 months after diagnosis, and one year after the cessation of treatment. The study is powered to quantify the impact of the combined educational, physical, and social intervention programs. Discussion RESPECT is the first population-based study to examine the effect of early rehabilitation for children with cancer, and to use healthy classmates as ambassadors to facilitate the normalization of social life in the hospital. For children with cancer, RESPECT contributes to expanding knowledge on rehabilitation that can also facilitate rehabilitation of other children undergoing hospitalization for long-term illness. Trial registration Clinical Trials.gov: file. NCT01772849 and NCT01772862

Published
2013

42. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., and Wlodarski, Marcin W.

Published
2021
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46. Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Author

Ramamoorthy, Senthilkumar, Lebrecht, Dirk, Schanze, Denny, Schanze, Ina, Wieland, Ilse, Andrieux, Geoffroy, Metzger, Patrick, Hess, Maria, Albert, Michael H., Borkhardt, Arndt, Bresters, Dorine, Buechner, Jochen, Catala, Albert, De Haas, Valerie, Dworzak, Michael, Erlacher, Miriam, Hasle, Henrik, Jahnukainen, Kirsi, Locatelli, Franco, and Masetti, Riccardo

Subjects
TUMOR suppressor genes, NEUROFIBROMATOSIS 1, LEUKEMIA, GENETIC variation, CELLULAR signal transduction, SYMPTOMS
Abstract

Summary: Juvenile myelomonocytic leukaemia (JMML) is characterized by gene variants that deregulate the RAS signalling pathway. Children with neurofibromatosis type 1 (NF‐1) carry a defective NF1 allele in the germline and are predisposed to JMML, which presumably requires somatic inactivation of the NF1 wild‐type allele. Here we examined the two‐hit concept in leukaemic cells of 25 patients with JMML and NF‐1. Ten patients with JMML/NF‐1 exhibited a NF1 loss‐of‐function variant in combination with uniparental disomy of the 17q arm. Five had NF1 microdeletions combined with a pathogenic NF1 variant and nine carried two compound‐heterozygous NF1 variants. We also examined 16 patients without clinical signs of NF‐1 and no variation in the JMML‐associated driver genes PTPN11, KRAS, NRAS or CBL (JMML‐5neg) and identified eight patients with NF1 variants. Three patients had microdeletions combined with hemizygous NF1 variants, three had compound‐heterozygous NF1 variants and two had heterozygous NF1 variants. In addition, we found a high incidence of secondary ASXL1 and/or SETBP1 variants in both groups. We conclude that the clinical diagnosis of JMML/NF‐1 reliably indicates a NF1‐driven JMML subtype, and that careful NF1 analysis should be included in the genetic workup of JMML even in the absence of clinical evidence of NF‐1. [ABSTRACT FROM AUTHOR]

Published
2024
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48. Pregnancy outcomes in female survivors of neuroblastoma: a short report from the Adult Life after Childhood Cancer in Scandinavia (ALiCCS) study.

Author

Azizi, Arezo, Norsker, Filippa N., Kokla, Marietta, Nielsen, Thomas T., Holmqvist, Anna S., Øra, Ingrid, Vettenranta, Kim, Øfstaas, Hilde, Hasle, Henrik, Rechnitzer, Catherine, Winther, Jeanette F., and Kenborg, Line

Subjects
NEUROBLASTOMA, CONFIDENCE intervals, MISCARRIAGE, WOMEN, PREGNANCY outcomes, CANCER patients, TUMORS in children, PERINATAL death, AGE factors in disease, DESCRIPTIVE statistics, LONGITUDINAL method, SECONDARY analysis, DISEASE risk factors, DISEASE complications
Abstract

The article focuses on investigating pregnancy outcomes in 230 female survivors of neuroblastoma from a Nordic register-based cohort study. Topics include the similar incidence of live births before age 30 between survivors and the general population, the decreased live birth rate by age 50 among survivors, and an increased risk of abortions among survivors compared to the general population, emphasizing the need for further research on recent cases' fertility outcomes.

Published
2023
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