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2. Risk of subsequent gliomas and meningiomas among 69,460 5-year survivors of childhood and adolescent cancer in Europe: the PanCareSurFup study

Author

Heymer, Emma J., Hawkins, Michael M., Winter, David L., Teepen, Jop C., Sunguc, Ceren, Ronckers, Cécile M., Allodji, Rodrigue S., Alessi, Daniela, Sugden, Elaine, Belle, Fabiën N., Bagnasco, Francesca, Byrne, Julianne, Bárdi, Edit, Garwicz, Stanislaw, Grabow, Desiree, Jankovic, Momcilo, Kaatsch, Peter, Kaiser, Melanie, Michel, Gisela, Schindera, Christina, Haddy, Nadia, Journy, Neige, Česen Mazić, Maja, Skinner, Roderick, Kok, Judith L., Gunnes, Maria W., Wiebe, Thomas, Sacerdote, Carlotta, Maule, Milena M., Terenziani, Monica, Jakab, Zsuzsanna, Winther, Jeanette F., Lähteenmäki, Päivi M., Zadravec Zaletel, Lorna, Haupt, Riccardo, Kuehni, Claudia E., Kremer, Leontien C., de Vathaire, Florent, Hjorth, Lars, and Reulen, Raoul C.

Published
2024
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5. Radiation Doses Received by Major Organs at Risk in Children and Young Adolescents Treated for Cancer with External Beam Radiation Therapy: A Large-scale Study from 12 European Countries

Author

Diallo, Ibrahima, Allodji, Rodrigue S., Veres, Cristina, Bolle, Stéphanie, Llanas, Damien, Ezzouhri, Safaa, Zrafi, Wael, Debiche, Ghazi, Souchard, Vincent, Fauchery, Romain, Haddy, Nadia, Journy, Neige, Demoor-Goldschmidt, Charlotte, Winter, David L., Hjorth, Lars, Wiebe, Thomas, Haupt, Riccardo, Robert, Charlotte, Kremer, Leontien, Bardi, Edit, Sacerdote, Carlotta, Terenziani, Monica, Kuehni, Claudia E., Schindera, Christina, Skinner, Roderick, Winther, Jeanette Falck, Lähteenmäki, Päivi, Byrn, Julianne, Jakab, Zsuzsanna, Cardis, Elisabeth, Pasqual, Elisa, Tapio, Soile, Baatout, Sarah, Atkinson, Mike, Benotmane, Mohammed Abderrafi, Sugden, Elaine, Zaletel, Lorna Zadravec, Ronckers, Cecile, Reulen, Raoul C., Hawkins, Mike M., and de Vathaire, Florent

Published
2024
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7. Subsequent female breast cancer risk associated with anthracycline chemotherapy for childhood cancer

Author

Wang, Yuehan, Ronckers, Cécile M., van Leeuwen, Flora E., Moskowitz, Chaya S., Leisenring, Wendy, Armstrong, Gregory T., de Vathaire, Florent, Hudson, Melissa M., Kuehni, Claudia E., Arnold, Michael A., Demoor-Goldschmidt, Charlotte, Green, Daniel M., Henderson, Tara O., Howell, Rebecca M., Ehrhardt, Matthew J., Neglia, Joseph P., Oeffinger, Kevin C., van der Pal, Helena J. H., Robison, Leslie L., Schaapveld, Michael, Turcotte, Lucie M., Waespe, Nicolas, Kremer, Leontien C. M., and Teepen, Jop C.

Published
2023
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8. Prevalence of childhood cancer survivors in Europe: a scoping review

Author

de Paula Silva, Neimar, Gini, Andrea, Dolya, Anastasia, Colombet, Murielle, Soerjomataram, Isabelle, Youlden, Danny, Stiller, Charles, Steliarova-Foucher, Eva, Aitken, Joanne, Bray, Freddie, Erdmann, Friederike, Winther, Jeanette Falck, Heenen, Delphine, Hjorth, Lars, Kuehni, Claudia E., Pritchard-Jones, Kathy, Piñeros, Marion, and Tomášiková, Zuzana

Published
2024
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9. Health-related quality of life in adults after pediatric kidney failure in Switzerland

Author

Heinzelmann, Marc-Andrea, Kuehni, Claudia E., Roser, Katharina, Mader, Luzius, and Laube, Guido F.

Subjects
Children -- Diseases, Kidney failure -- Care and treatment -- Patient outcomes, Quality of life -- Health aspects, Health
Abstract

Background Little is known about health-related quality of life (HRQoL) in adults after kidney failure during childhood. In this study, we analyzed HRQoL of adults after pediatric kidney failure in Switzerland and investigated socio-demographic and clinical factors associated with HRQoL. Methods In this cohort study, we sent questionnaires to 143 eligible patients registered in the Swiss Pediatric Renal Registry with continuous kidney replacement therapy starting before the age of 18 years. We assessed HRQoL using the Short-Form 36 version 1, compared HRQoL scores between our sample and the Swiss general population, and used linear regression models to examine socio-demographic and clinical factors associated with HRQoL. Results We included 79 patients (response rate 55%) with a mean age of 38.6 years (range 19.4-63.1). Compared to the general population, HRQoL scores were lower for physical functioning (- 12.43, p < 0.001), role physical (- 13.85, p = 0.001), general health (- 14.42, p < 0.001), vitality (- 4.98, p = 0.035), and physical HRQoL (- 6.11, p < 0.001), but we found no difference in mental HRQoL (- 0.13, p = 0.932). The socio-demographic factors-lower education, unemployment, and not being in a relationship-were associated with lower HRQoL. The only clinical factor associated with HRQoL was the type of kidney disease. Patients with acquired kidney diseases had lower mental HRQoL than patients with congenital anomalies of the kidney and urinary tract (- 11.4, p = 0.007) or monogenetic hereditary diseases (- 9.5, p = 0.018). Conclusions Adults after pediatric kidney failure in Switzerland have lower physical, but similar mental HRQoL compared to the general population. Subgroups may require special attention with regard to their HRQoL. Graphical abstract, Author(s): Marc-Andrea Heinzelmann [sup.1] , Claudia E. Kuehni [sup.1] [sup.2] , Katharina Roser [sup.3] , Luzius Mader [sup.4] , Guido F. Laube [sup.5] Author Affiliations: (1) grid.5734.5, 0000 0001 0726 [...]

Published
2023
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10. Recommendations for surveillance of pulmonary dysfunction among childhood, adolescent, and young adult cancer survivors: a report from the International Late Effects of Childhood Cancer Guideline Harmonization Group

Author

Otth, Maria, Kasteler, Rahel, Mulder, Renée L., Agrusa, Jennifer, Armenian, Saro H., Barnea, Dana, Bergeron, Anne, Bhatt, Neel S., Bourke, Stephen J., Constine, Louis S., Goutaki, Myrofora, Green, Daniel M., Hennewig, Ulrike, Houdouin, Veronique, Hudson, Melissa M., Kremer, Leontien, Latzin, Philipp, Ng, Antony, Oeffinger, Kevin C., Schindera, Christina, Skinner, Roderick, Sommer, Grit, Srinivasan, Saumini, Stokes, Dennis C., Versluys, Birgitta, Waespe, Nicolas, Weiner, Daniel J., Dietz, Andrew C., and Kuehni, Claudia E.

Published
2024
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12. Risk of subsequent primary oral cancer in a cohort of 69,460 5-year survivors of childhood and adolescent cancer in Europe: the PanCareSurFup study

Author

Sunguc, Ceren, Hawkins, Michael M., Winter, David L., Dudley, Isabelle M., Heymer, Emma J., Teepen, Jop C., Allodji, Rodrigue S., Belle, Fabiën N., Bagnasco, Francesca, Byrne, Julianne, Bárdi, Edit, Ronckers, Cécile M., Haddy, Nadia, Gudmundsdottir, Thorgerdur, Garwicz, Stanislaw, Jankovic, Momcilo, van der Pal, Helena J. H., Mazić, Maja Česen, Schindera, Christina, Grabow, Desiree, Maule, Milena M., Kaatsch, Peter, Kaiser, Melanie, Fresneau, Brice, Michel, Gisela, Skinner, Roderick, Wiebe, Thomas, Sacerdote, Carlotta, Jakab, Zsuzsanna, Gunnes, Maria Winther, Terenziani, Monica, Winther, Jeanette F., Lähteenmäki, Päivi M., Zaletel, Lorna Zadravec, Kuehni, Claudia E., Kremer, Leontien C., Haupt, Riccardo, de Vathaire, Florent, Hjorth, Lars, and Reulen, Raoul C.

Published
2023
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15. Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis

Author

Schoepfer, Alain M, Hirano, Ikuo, Coslovsky, Michael, Roumet, Marie C, Zwahlen, Marcel, Kuehni, Claudia E, Hafner, David, Alexander, Jeffrey A, Dellon, Evan S, Gonsalves, Nirmala, Leung, John, Bussmann, Christian, Collins, Margaret H, Newbury, Robert O, Smyrk, Thomas C, Woosley, John T, Yang, Guang-Yu, Romero, Yvonne, Katzka, David A, Furuta, Glenn T, Gupta, Sandeep K, Aceves, Seema S, Chehade, Mirna, Spergel, Jonathan M, Falk, Gary W, Meltzer, Brian A, Comer, Gail M, Straumann, Alex, Safroneeva, Ekaterina, Group, International EEsAI Study, Achem, Sami R, Arora, Amindra S, Alpan, Oral, Armstrong, David, Attwood, Stephen E, Butterfield, Joseph H, Crowell, Michael D, DeVault, Kenneth R, Drouin, Eric, Enav, Benjamin, Enders, Felicity T, Fleischer, David E, Foxx-Orenstein, Amy, Francis, Dawn L, Guyatt, Gordon H, Harris, Lucinda A, Kagalwalla, Amir F, Kita, Hirohito, Krishna, Murli, Lee, James J, Lewis, John C, Lim, Kaiser, Locke, G Richard, Murray, Joseph A, Nguyen, Cuong C, Orbelo, Diana M, Pasha, Shabana F, Ramirez, Francisco C, Sheikh, Javed, Umar, Sarah B, Weiler, Catherine R, Wo, John M, Wu, Tsung-Teh, and Yost, Kathleen J

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Prevention, Adolescent, Adult, Aged, Anti-Inflammatory Agents, Dose-Response Relationship, Drug, Eosinophilic Esophagitis, Esophagoscopy, Esophagus, Female, Fluticasone, Humans, Male, Middle Aged, Prognosis, Severity of Illness Index, Young Adult, Index, Variability in Endoscopic Assessment, Instrument, International EEsAI Study Group, Gastroenterology & Hepatology, Clinical sciences
Abstract

Background & aimsEosinophilic esophagitis (EoE) is assessed endoscopically (endoscopic activity), based on grades of edema, rings, exudates, furrows, and strictures (EREFS). We examined variations in endoscopic assessments of severity, developed and validated 3 EREFS-based scoring systems, and assessed responsiveness of these systems using data from a randomized placebo-controlled trial of patients with EoE.MethodsFor the development set, 5 gastroenterologists reviewed EREFS findings from 266 adults with EoE and provided endoscopist global assessment scores (EndoGA, scale of 0 to 10); variation (ΔEndoGA) was assessed using linear regression. We evaluated simple scores (features given arbitrary values from 0 to 3) and developed 2 scoring systems (adjusted score range, 0-100). We then fitted our linear regression model with mean EndoGA to data from 146 adults recruited in centers in Switzerland and the United States between April 2011 and December 2012. For the validation set, we collected data from 120 separate adults (recruited in centers in Switzerland and the United States between May 2013 and July 2014), assessing regression coefficient-based scores using Bland-Altman method. We assessed the responsiveness of our scoring systems using data from a randomized trial of patients with EoE given fluticasone (n=16) or placebo (n=8).ResultsThe distribution of EndoGA values differed among endoscopists (mean ΔEndoGA, 2.6±1.8; range 0-6.6). We developed 2 regression-based scoring systems to assess overall and proximal and distal esophageal findings; variation in endoscopic features accounted for more than 90% of the mean EndoGA variation. In the validation group, differences between mean EndoGA and regression-based scores were small (ranging from -4.70 to 2.03), indicating good agreement. In analyses of data from the randomized trial, the baseline to end of study change in patients given fluticasone was a reduction of 24.3 in simple score (reduction of 4.6 in patients given placebo, P=.052); a reduction of 23.5 in regression-based overall score (reduction of 6.56 in patients given placebo, P=.12), and a reduction of 23.8 (reduction of 8.44 in patients given placebo, P=.11).ConclusionAssessments of endoscopic activity in patients with EoE vary among endoscopists. In an analysis of data from a randomized controlled trial, we found that newly developed scoring systems are no better than simple scoring system in detecting changes in endoscopic activity. These results support the use of a simple scoring system in evaluation of endoscopic activity in patients with EoE. clinicaltrials.gov no: NCT00939263 and NCT01386112.

Published
2019

16. Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Author

Baumann, Dominique, Enzmann, Cornelia, Hasselmann, Oswald, Jacquier, David, Jung, Hans H., Klein, Andrea, Kruijshaar, Michelle E., Kuehni, Claudia E., Lötscher, Nadine, Neuwirth, Christoph, Ramelli, Gian P., Ripellino, Paolo, Scheidegger, Oliver, Stettner, Georg M., Tscherter, Anne, Wille, David-Alexander, and Rüsch, Christina T.

Published
2022
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19. Treatment Decisions in Children With Asthma in a Real-Life Clinical Setting: The Swiss Paediatric Airway Cohort

Author

Mueller-Suter, D., Eng, P., Kuhn, A., Frey, U., Hammer, J., Jochmann, A., Trachsel, D., Oettlin, A., Latzin, P., Abbas, C., Bullo, M., Fuchs, O., Kieninger, E., Korten, I., Krüger, L., Seyfried, B., Singer, F., Yammine, S., Casaulta, C., Iseli, P., Hoyler, K., Blanchon, S., Guerin, S., Rochat, I., Regamey, N., Lurà, M., Hitzler, M., Clavuot, A., Hrup, K., Stritt, J., Barben, J., Sutter, O., Moeller, A., Hector, A., Heschl, K., Jung, A., Schürmann, T., Thanikkel, L., Usemann, J., Kuehni, C.E., Ardura-Garcia, C., Berger, D., de Jong, C., Mallet, M.C., Pedersen, E., Goutaki, M., Ardura-Garcia, Cristina, Pedersen, Eva S.L., Mallet, Maria Christina, de Jong, Carmen C.M., Barben, Juerg, Jochmann, Anja, Jung, Andreas, Mueller-Suter, Dominik, Regamey, Nicolas, Singer, Florian, and Kuehni, Claudia E.

Published
2022
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20. Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation.

Author

Kartal-Kaess, Mutlu, Karow, Axel, Bacher, Ulrike, Pabst, Thomas, Joncourt, Raphael, Zweier, Christiane, Kuehni, Claudia E., Porret, Naomi Azur, and Roessler, Jochen

Subjects
SOMATIC mutation, STEM cell transplantation, CHILD patients, CARDIOVASCULAR disease related mortality, CHILDHOOD cancer
Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) describes recurrent somatic gene mutations in the blood of healthy individuals, associated with higher risk for hematological malignancies and higher all-cause mortality by cardiovascular disease. CHIP increases with age and is more common in adult patients after chemotherapy or radiation for cancer. Furthermore, in some adult patients undergoing autologous stem cell transplantation (ASCT) or thereafter, CHIP has been identified. In children and adolescents, it remains unclear how cellular stressors such as cytotoxic therapy influence the incidence and expansion of CHIP. We conducted a retrospective study on 33 pediatric patients mostly with solid tumors undergoing ASCT for presence of CHIP. We analyzed CD34+ selected peripheral blood stem cell grafts after several cycles of chemotherapy, prior to cell infusion, by next-generation sequencing including 18 "CHIP-genes". Apart from a somatic variant in TP53 in one patient no other variants indicative of CHIP were identified. As a CHIP-unrelated finding, germline variants in CHEK2 and in ATM were identified in two and four patients, respectively. In conclusion, we could not detect "typical" CHIP variants in our cohort of pediatric cancer patients undergoing ASCT. However, more studies with larger patient numbers are necessary to assess if chemotherapy in the pediatric setting contributes to an increased CHIP incidence and at what time point. [ABSTRACT FROM AUTHOR]

Published
2024
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21. A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

Author

Enzmann, Cornelia, Steiner, Leonie, Pospieszny, Katarzyna, Zweier, Christiane, Plattner, Kevin, Baumann, Dominique, Henzi, Bettina, Galiart, Elea, Fink, Mirjam, Jacquier, David, Stettner, Georg M., Ripellino, Paolo, Fluss, Joel, Klein, Andrea, Jung, Hans H., Kuehni, Claudia E., Mathis, Andrea, Scheidegger, Oliver, Schreiner, Bettina, and Schwarz, Esther I.

Published
2024
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23. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Author

Waszak, Sebastian M, Northcott, Paul A, Buchhalter, Ivo, Robinson, Giles W, Sutter, Christian, Groebner, Susanne, Grund, Kerstin B, Brugières, Laurence, Jones, David TW, Pajtler, Kristian W, Morrissy, A Sorana, Kool, Marcel, Sturm, Dominik, Chavez, Lukas, Ernst, Aurelie, Brabetz, Sebastian, Hain, Michael, Zichner, Thomas, Segura-Wang, Maia, Weischenfeldt, Joachim, Rausch, Tobias, Mardin, Balca R, Zhou, Xin, Baciu, Cristina, Lawerenz, Christian, Chan, Jennifer A, Varlet, Pascale, Guerrini-Rousseau, Lea, Fults, Daniel W, Grajkowska, Wiesława, Hauser, Peter, Jabado, Nada, Ra, Young-Shin, Zitterbart, Karel, Shringarpure, Suyash S, De La Vega, Francisco M, Bustamante, Carlos D, Ng, Ho-Keung, Perry, Arie, MacDonald, Tobey J, Hernáiz Driever, Pablo, Bendel, Anne E, Bowers, Daniel C, McCowage, Geoffrey, Chintagumpala, Murali M, Cohn, Richard, Hassall, Timothy, Fleischhack, Gudrun, Eggen, Tone, Wesenberg, Finn, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V, Röösli, Martin, Kuehni, Claudia E, Grotzer, Michael, Kjaerheim, Kristina, Monoranu, Camelia M, Archer, Tenley C, Duke, Elizabeth, Pomeroy, Scott L, Shelagh, Redmond, Frank, Stephan, Sumerauer, David, Scheurlen, Wolfram, Ryzhova, Marina V, Milde, Till, Kratz, Christian P, Samuel, David, Zhang, Jinghui, Solomon, David A, Marra, Marco, Eils, Roland, Bartram, Claus R, von Hoff, Katja, Rutkowski, Stefan, Ramaswamy, Vijay, Gilbertson, Richard J, Korshunov, Andrey, Taylor, Michael D, Lichter, Peter, Malkin, David, Gajjar, Amar, Korbel, Jan O, and Pfister, Stefan M

Subjects
Humans, Medulloblastoma, Cerebellar Neoplasms, Genetic Predisposition to Disease, Risk Factors, Retrospective Studies, Prospective Studies, Reproducibility of Results, Predictive Value of Tests, Gene Expression Profiling, Pedigree, DNA Mutational Analysis, DNA Methylation, Heredity, Phenotype, Germ-Line Mutation, Models, Genetic, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Testing, Transcriptome, Biomarkers, Tumor, Progression-Free Survival, Exome Sequencing, Brain Cancer, Genetics, Cancer, Human Genome, Pediatric, Pediatric Cancer, Rare Diseases, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundMedulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines.MethodsIn this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma.FindingsWe included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40-69) and 5-year overall survival was 65% (95% CI 52-81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes.InterpretationGenetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics.FundingGerman Cancer Aid; German Federal Ministry of Education and Research; German Childhood Cancer Foundation (Deutsche Kinderkrebsstiftung); European Research Council; National Institutes of Health; Canadian Institutes for Health Research; German Cancer Research Center; St Jude Comprehensive Cancer Center; American Lebanese Syrian Associated Charities; Swiss National Science Foundation; European Molecular Biology Organization; Cancer Research UK; Hertie Foundation; Alexander and Margaret Stewart Trust; V Foundation for Cancer Research; Sontag Foundation; Musicians Against Childhood Cancer; BC Cancer Foundation; Swedish Council for Health, Working Life and Welfare; Swedish Research Council; Swedish Cancer Society; the Swedish Radiation Protection Authority; Danish Strategic Research Council; Swiss Federal Office of Public Health; Swiss Research Foundation on Mobile Communication; Masaryk University; Ministry of Health of the Czech Republic; Research Council of Norway; Genome Canada; Genome BC; Terry Fox Research Institute; Ontario Institute for Cancer Research; Pediatric Oncology Group of Ontario; The Family of Kathleen Lorette and the Clark H Smith Brain Tumour Centre; Montreal Children's Hospital Foundation; The Hospital for Sick Children: Sonia and Arthur Labatt Brain Tumour Research Centre, Chief of Research Fund, Cancer Genetics Program, Garron Family Cancer Centre, MDT's Garron Family Endowment; BC Childhood Cancer Parents Association; Cure Search Foundation; Pediatric Brain Tumor Foundation; Brainchild; and the Government of Ontario.

Published
2018

24. Characteristics and treatment of acute myeloid neoplasms with cutaneous involvement in infants up to 6 months of age: A retrospective study

Author

Renaud, Juliette, primary, Goemans, Bianca F., additional, Locatelli, Franco, additional, Pigazzi, Martina, additional, Redmond, Shelagh, additional, Kuehni, Claudia E., additional, Destaillats, Alice, additional, Alonzo, Todd A., additional, Gerbing, Robert B., additional, Gamis, Alan, additional, Aplenc, Richard, additional, Renella, Raffaele, additional, Cooper, Todd, additional, and Ceppi, Francesco, additional

Published
2024
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30. The impact of the temporal sequence of cranial radiotherapy and platin-based chemotherapy on hearing impairment in pediatric and adolescent CNS and head-and-neck cancer patients:A report from the PanCareLIFE consortium

Author

Scobioala, Sergiu, Parfitt, Ross, Matulat, Peter, Byrne, Julianne, Langer, Thorsten, Troschel, Fabian M., Hesping, Amélie E., Clemens, Eva, Kaatsch, Peter, Grabow, Desiree, Kaiser, Melanie, Spix, Claudia, Kremer, Leontien C., Calaminus, Gabriele, Baust, Katja, Kuehni, Claudia E., Weiss, Annette, Strebel, Sven, Kuonen, Rahel, Elsner, Susanne, Haupt, Riccardo, Garré, Maria Luisa, Gruhn, Bernd, Kepak, Tomas, Kepakova, Katerina, Winther, Jeanette Falck, Kenborg, Line, Rechnitzer, Catherine, Hasle, Henrik, Kruseova, Jarmila, Luks, Ales, Lackner, Herwig, Bielack, Stefan, Beck, Jörn Dirk, Jürgens, Heribert, van den Heuvel-Eibrink, Marry M., Zolk, Oliver, Eich, Hans Theodor, am Zehnhoff-Dinnesen, Antoinette, Scobioala, Sergiu, Parfitt, Ross, Matulat, Peter, Byrne, Julianne, Langer, Thorsten, Troschel, Fabian M., Hesping, Amélie E., Clemens, Eva, Kaatsch, Peter, Grabow, Desiree, Kaiser, Melanie, Spix, Claudia, Kremer, Leontien C., Calaminus, Gabriele, Baust, Katja, Kuehni, Claudia E., Weiss, Annette, Strebel, Sven, Kuonen, Rahel, Elsner, Susanne, Haupt, Riccardo, Garré, Maria Luisa, Gruhn, Bernd, Kepak, Tomas, Kepakova, Katerina, Winther, Jeanette Falck, Kenborg, Line, Rechnitzer, Catherine, Hasle, Henrik, Kruseova, Jarmila, Luks, Ales, Lackner, Herwig, Bielack, Stefan, Beck, Jörn Dirk, Jürgens, Heribert, van den Heuvel-Eibrink, Marry M., Zolk, Oliver, Eich, Hans Theodor, and am Zehnhoff-Dinnesen, Antoinette

Abstract

The impact of the temporal sequence by which cranial radiotherapy (CRT) and platin-based chemotherapy (PCth) are administered on sensorineural hearing loss (SNHL) in pediatric and adolescent central nervous system (CNS) and head-and-neck (HN) cancer patients has not yet been studied in detail. We examined the ototoxic effects of sequentially applied CRT and PCth. This study included children and adolescents with CNS and HN tumors who participated in the multicountry PanCareLIFE (PCL) consortium. Audiological outcomes were compared between patients who received CRT prior to PCth and those who received it afterwards. The incidence, degree and posttreatment progression of SNHL, defined as Muenster classification grade ≥MS2b, were evaluated in 141 patients. One hundred and nineteen patients were included in a time-to-onset analysis. Eighty-eight patients received CRT prior to PCth (Group 1) and 53 patients received PCth before CRT (Group 2). Over a median follow-up time of 1.6 years, 72.7% of patients in Group 1 experienced SNHL ≥ MS2b compared to 33.9% in Group 2 (P <.01). A time-to-onset analysis was performed for 74 patients from Group 1 and 45 patients from Group 2. Median time to hearing loss (HL) ≥ MS2b was 1.2 years in Group 1 and 4.4 years in Group 2 (P <.01). Thus, audiological outcomes were better for patients who received CRT after PCth than before. This finding should be further evaluated and considered within clinical practice in order to minimize hearing loss in children and adolescents with CNS and HN tumors.

Published
2024

31. Evaluation of the Double-Tracer Gas Single-Breath Washout Test in a Pediatric Field Study

Author

Kentgens, Anne-Christianne, Kurz, Johanna M; https://orcid.org/0000-0001-9912-4377, Mozun, Rebeca; https://orcid.org/0000-0002-5237-8668, Usemann, Jakob; https://orcid.org/0000-0002-9987-2866, Pedersen, Eva S L; https://orcid.org/0000-0003-0293-9954, Kuehni, Claudia E; https://orcid.org/0000-0001-8957-2002, Latzin, Philipp; https://orcid.org/0000-0002-5239-1571, Moeller, Alexander; https://orcid.org/0000-0001-7284-4251, Singer, Florian; https://orcid.org/0000-0003-3471-5664, Kurz, Johanna, Ardura-Garcia, Cristina; https://orcid.org/0000-0001-7924-518X, Goutaki, Myrofora; https://orcid.org/0000-0001-8036-2092, Mallet, Maria Christina, de Hoogh, Kees; https://orcid.org/0000-0001-5974-2007, Kentgens, Anne-Christianne, Kurz, Johanna M; https://orcid.org/0000-0001-9912-4377, Mozun, Rebeca; https://orcid.org/0000-0002-5237-8668, Usemann, Jakob; https://orcid.org/0000-0002-9987-2866, Pedersen, Eva S L; https://orcid.org/0000-0003-0293-9954, Kuehni, Claudia E; https://orcid.org/0000-0001-8957-2002, Latzin, Philipp; https://orcid.org/0000-0002-5239-1571, Moeller, Alexander; https://orcid.org/0000-0001-7284-4251, Singer, Florian; https://orcid.org/0000-0003-3471-5664, Kurz, Johanna, Ardura-Garcia, Cristina; https://orcid.org/0000-0001-7924-518X, Goutaki, Myrofora; https://orcid.org/0000-0001-8036-2092, Mallet, Maria Christina, and de Hoogh, Kees; https://orcid.org/0000-0001-5974-2007

Abstract

BACKGROUND: The early life origins of chronic pulmonary diseases are thought to arise in peripheral small airways. Predictors of ventilation inhomogeneity, a proxy of peripheral airway function, are understudied in schoolchildren. RESEARCH QUESTION: Is the double-tracer gas single-breath washout (DTG-SBW) measurement feasible in a pediatric field study setting? What are the predictors of the DTG-SBWderived ventilation inhomogeneity estimate in unselected schoolchildren? STUDY DESIGN AND METHODS: In this prospective cross-sectional field study, a mobile lung function testing unit visited participating schools in Switzerland. We applied DTG-SBW, fraction of exhaled nitric oxide (FENO), and spirometry measurements. The DTG-SBW is based on tidal inhalation of helium and sulfur-hexafluoride, and the phase III slope (SIIIHeSF6) is derived. We assessed feasibility, repeatability, and associations of SIIIHe-SF6 with the potential predictors of anthropometrics, presence of wheeze (ie, parental report of one or more episode of wheeze in the prior year), FENO, FEV1, and FEV1/FVC. RESULTS: In 1,782 children, 5,223 DTG-SBW trials were obtained. The DTG-SBW was acceptable in 1,449 children (81.3%); the coefficient of variation was 39.8%. SIIIHe-SF6 was independently but weakly positively associated with age and BMI. In 276 children (21.2%), wheeze was reported. SIIIHe-SF6 was higher by 0.049 g.mol.L-1 in children with wheeze compared with those without and remained associated with wheeze after adjusting for age and BMI in a multivariable linear regression model. SIIIHe-SF6 was not associated with FENO, FEV1, and FEV1/FVC. INTERPRETATION: The DTG-SBW is feasible in a pediatric field study setting. On the population level, age, body composition, and wheeze are independent predictors of peripheral airway function in unselected schoolchildren. The variation of the DTG-SBW possibly constrains its current applicability on the individual level.

Published
2024

32. The Brief Symptom Inventory in the Swiss general population: Presentation of norm scores and predictors of psychological distress.

Author

Michel, Gisela, Baenziger, Julia, Brodbeck, Jeannette, Mader, Luzius, Kuehni, Claudia E., and Roser, Katharina

Subjects
BRIEF Symptom Inventory, PSYCHOLOGICAL distress, SOCIAL norms, PSYCHOMETRICS, REFERENCE values
Abstract

Psychological distress is an important and frequent health problem. The Brief Symptom Inventory (BSI) allows screening for psychological distress in clinical, general and research populations. We aimed to provide normative data for the BSI and the BSI-18 for the Swiss general population: We 1) present psychometric properties, 2) develop a Swiss T-standardization and validate it using a clinical sample, 3) describe psychological distress in the Swiss general population and the clinical sample, and 4) compare the means and T-standardized scores of the Swiss general population to different German norm populations. Using a cross-sectional study design, we invited a representative sample of the Swiss general population aged 18–75 years to the study. A sample of psychotherapy outpatients had competed the BSI before start of their therapy. We calculated scores for the nine scales of the BSI (three of them constitute the BSI-18), the T-standardization and the following BSI indices: Global Severity Index (GSI), Positive Symptom Total (PST), Positive Symptom Distress Index (PSDI), and Caseness (reaching T≥63 on the GSI or T≥63 on at least two of the scales). A total of 1238 general population participants completed the BSI (41.8% male; mean age 48.9 years). The BSI had good psychometric properties. The Swiss T-standardization showed good validity when applied in the clinical sample. Females reached a significantly higher GSI score than males (p<0.001). Older participants (p = 0.026), those with higher education (p <0.001), and those employed or retired (p<0.001) reached lower scores than participants aged 18–25 years, those with compulsory schooling, and unemployed participants, respectively. A total of 18.1% (CI: 16.0–20.5) participants of the general population and 75.2% (CI: 73.7–76.7) of the psychotherapy patients were considered cases with psychological distress. Our study presents detailed normative data for the BSI and the BSI-18 based on a representative sample of the Swiss general population. This information will be helpful for clinical applications and research in the Swiss and international context. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

Author

Sävendahl, Lars, Cooke, Rosie, Tidblad, Anders, Beckers, Dominique, Butler, Gary, Cianfarani, Stefano, Clayton, Peter, Coste, Joël, Hokken-Koelega, Anita C S, Kiess, Wieland, Kuehni, Claudia E, Albertsson-Wikland, Kerstin, Deodati, Annalisa, Ecosse, Emmanuel, Gausche, Ruth, Giacomozzi, Claudio, Konrad, Daniel, Landier, Fabienne, Pfaeffle, Roland, Sommer, Grit, Thomas, Muriel, Tollerfield, Sally, Zandwijken, Gladys R J, Carel, Jean-Claude, and Swerdlow, Anthony J

Published
2020
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34. Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial

Author

Kobbernagel, Helene E, Buchvald, Frederik F, Haarman, Eric G, Casaulta, Carmen, Collins, Samuel A, Hogg, Claire, Kuehni, Claudia E, Lucas, Jane S, Moser, Claus E, Quittner, Alexandra L, Raidt, Johanna, Rosthøj, Susanne, Sørensen, Anne L, Thomsen, Kim, Werner, Claudius, Omran, Heymut, and Nielsen, Kim G

Published
2020
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36. Implementation of the Short-Form 36 (SF-36) in childhood cancer survivors: An analysis on measurement properties across 5 European countries

Author

Baust, Katja, primary, Calaminus, Gabriele, additional, Berger, Claire, additional, Byrne, Julianne, additional, Grabow, Desiree, additional, van den Heuvel-Eibrink, Marry M., additional, Kaiser, Melanie, additional, Kepak, Tomas, additional, Kremer, Leontien C. M., additional, Kruseova, Jarmila, additional, Kuonen, Rahel, additional, Roser, Katharina, additional, Spix, Claudia, additional, Maurice-Stam, Heleen, additional, Kuehni, Claudia E., additional, and Sommer, Grit, additional

Published
2024
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37. Symptoms Have Modest Accuracy in Detecting Endoscopic and Histologic Remission in Adults With Eosinophilic Esophagitis

Author

Safroneeva, Ekaterina, Straumann, Alex, Coslovsky, Michael, Zwahlen, Marcel, Kuehni, Claudia E, Panczak, Radoslaw, Haas, Nadine A, Alexander, Jeffrey A, Dellon, Evan S, Gonsalves, Nirmala, Hirano, Ikuo, Leung, John, Bussmann, Christian, Collins, Margaret H, Newbury, Robert O, De Petris, Giovanni, Smyrk, Thomas C, Woosley, John T, Yan, Pu, Yang, Guang-Yu, Romero, Yvonne, Katzka, David A, Furuta, Glenn T, Gupta, Sandeep K, Aceves, Seema S, Chehade, Mirna, Spergel, Jonathan M, Schoepfer, Alain M, Group, International Eosinophilic Esophagitis Activity Index Study, Achem, Sami R, Arora, Amindra S, Alpan, Oral, Armstrong, David, Attwood, Stephen E, Butterfield, Joseph H, Crowell, Michael D, DeVault, Kenneth R, Drouin, Eric, Enav, Benjamin, Enders, Felicity T, Fleischer, David E, Foxx-Orenstein, Amy, Francis, Dawn L, Guyatt, Gordon H, Harris, Lucinda A, Kagalwalla, Amir F, Kita, Hirohito, Krishna, Murli, Lee, James J, Lewis, John C, Lim, Kaiser, Locke, G Richard, Murray, Joseph A, Nguyen, Cuong C, Orbelo, Diana M, Pasha, Shabana F, Ramirez, Francisco C, Sheikh, Javed, Umar, Sarah B, Weiler, Catherine R, Wo, John M, Wu, Tsung-Teh, and Yost, Kathleen J

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Cancer, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Adolescent, Adult, Aged, Aged, 80 and over, Area Under Curve, Biopsy, Eosinophilic Esophagitis, Eosinophils, Esophagoscopy, Female, Humans, Leukocyte Count, Male, Middle Aged, Predictive Value of Tests, Prospective Studies, ROC Curve, Remission Induction, Reproducibility of Results, Severity of Illness Index, Surveys and Questionnaires, Switzerland, Treatment Outcome, United States, Young Adult, EEsAI, Remission, Endoscopic Grading, Disease Monitoring, International Eosinophilic Esophagitis Activity Index Study Group, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsIt is not clear whether symptoms alone can be used to estimate the biologic activity of eosinophilic esophagitis (EoE). We aimed to evaluate whether symptoms can be used to identify patients with endoscopic and histologic features of remission.MethodsBetween April 2011 and June 2014, we performed a prospective, observational study and recruited 269 consecutive adults with EoE (67% male; median age, 39 years old) in Switzerland and the United States. Patients first completed the validated symptom-based EoE activity index patient-reported outcome instrument and then underwent esophagogastroduodenoscopy with esophageal biopsy collection. Endoscopic and histologic findings were evaluated with a validated grading system and standardized instrument, respectively. Clinical remission was defined as symptom score

Published
2016

41. Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Author

Waszak, Sebastian M., Robinson, Giles W,, Gudenas, Brian L., Smith, Kyle S., Forget, Antoine, Kojic, Marija, Garcia-Lopez, Jesus, Hadley, Jennifer, Hamilton, Kayla V., Indersie, Emilie, Buchhalter, Ivo, Kerssemakers, Jules, Jäger, Natalie, Sharma, Tanvi, Rausch, Tobias, Kool, Marcel, Sturm, Dominik, Jones, David T. W., Vasilyeva, Aksana, Tatevossian, Ruth G., Neale, Geoffrey, Lombard, Bérangère, Loew, Damarys, Nakitandwe, Joy, Rusch, Michael, Bowers, Daniel C., Bendel, Anne, Partap, Sonia, Chintagumpala, Murali, Crawford, John, Gottardo, Nicholas G., Smith, Amy, Dufour, Christelle, Rutkowski, Stefan, Eggen, Tone, Wesenberg, Finn, Kjaerheim, Kristina, Feychting, Maria, Lannering, Birgitta, Schüz, Joachim, Johansen, Christoffer, Andersen, Tina V., Röösli, Martin, Kuehni, Claudia E., Grotzer, Michael, Remke, Marc, Puget, Stéphanie, Pajtler, Kristian W., Milde, Till, Witt, Olaf, Ryzhova, Marina, Korshunov, Andrey, Orr, Brent A., Ellison, David W., Brugieres, Laurence, Lichter, Peter, Nichols, Kim E., Gajjar, Amar, Wainwright, Brandon J., Ayrault, Olivier, Korbel, Jan O., Northcott, Paul A., and Pfister, Stefan M.

Published
2020
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42. Development and Validation of a Symptom-Based Activity Index for Adults With Eosinophilic Esophagitis

Author

Schoepfer, Alain M, Straumann, Alex, Panczak, Radoslaw, Coslovsky, Michael, Kuehni, Claudia E, Maurer, Elisabeth, Haas, Nadine A, Romero, Yvonne, Hirano, Ikuo, Alexander, Jeffrey A, Gonsalves, Nirmala, Furuta, Glenn T, Dellon, Evan S, Leung, John, Collins, Margaret H, Bussmann, Christian, Netzer, Peter, Gupta, Sandeep K, Aceves, Seema S, Chehade, Mirna, Moawad, Fouad J, Enders, Felicity T, Yost, Kathleen J, Taft, Tiffany H, Kern, Emily, Zwahlen, Marcel, Safroneeva, Ekaterina, and Group, International Eosinophilic Esophagitis Activity Index Study

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Clinical Research, Food Allergies, Adaptation, Psychological, Adult, Deglutition Disorders, Endoscopy, Gastrointestinal, Eosinophilic Esophagitis, Feeding Behavior, Female, Humans, Linear Models, Male, Reproducibility of Results, Self Report, Severity of Illness Index, Surveys and Questionnaires, Switzerland, United States, Disease Activity Measurement, Esophagus, Patient-Reported Outcome, Marker, International Eosinophilic Esophagitis Activity Index Study Group, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsStandardized instruments are needed to assess the activity of eosinophilic esophagitis (EoE) and to provide end points for clinical trials and observational studies. We aimed to develop and validate a patient-reported outcome (PRO) instrument and score, based on items that could account for variations in patient assessments of disease severity. We also evaluated relationships between patient assessment of disease severity and EoE-associated endoscopic, histologic, and laboratory findings.MethodsWe collected information from 186 patients with EoE in Switzerland and the United States (69.4% male; median age, 43 y) via surveys (n = 135), focus groups (n = 27), and semistructured interviews (n = 24). Items were generated for the instruments to assess biologic activity based on physician input. Linear regression was used to quantify the extent to which variations in patient-reported disease characteristics could account for variations in patient assessment of EoE severity. The PRO instrument was used prospectively in 153 adult patients with EoE (72.5% male; median age, 38 y), and validated in an independent group of 120 patients with EoE (60.8% male; median age, 40.5 y).ResultsSeven PRO factors that are used to assess characteristics of dysphagia, behavioral adaptations to living with dysphagia, and pain while swallowing accounted for 67% of the variation in patient assessment of disease severity. Based on statistical consideration and patient input, a 7-day recall period was selected. Highly active EoE, based on endoscopic and histologic findings, was associated with an increase in patient-assessed disease severity. In the validation study, the mean difference between patient assessment of EoE severity (range, 0-10) and PRO score (range, 0-8.52) was 0.15.ConclusionsWe developed and validated an EoE scoring system based on 7 PRO items that assess symptoms over a 7-day recall period. Clinicaltrials.gov number: NCT00939263.

Published
2014

43. Clinical data for paediatric research: the Swiss approach: Proceedings of the National Symposium in Bern, Switzerland, Dec 5-6, 2019

Author

Rakic, Milenko, Jaboyedoff, Manon, Bachmann, Sara, Berger, Christoph, Diezi, Manuel, do Canto, Philipp, Forrest, Christopher B., Frey, Urs, Fuchs, Oliver, Gervaix, Alain, Gluecksberg, Amalia Stefani, Grotzer, Michael, Heininger, Ulrich, Kahlert, Christian R., Kaiser, Daniela, Kopp, Matthias V., Lauener, Roger, Neuhaus, Thomas J., Paioni, Paolo, Posfay-Barbe, Klara, Ramelli, Gian Paolo, Simeoni, Umberto, Simonetti, Giacomo, Sokollik, Christiane, Spycher, Ben D., and Kuehni, Claudia E.

Published
2021
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46. Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis

Author

Achem, Sami R., Arora, Amindra S., Alpan, Oral, Armstrong, David, Attwood, Stephen E., Butterfield, Joseph H., Crowell, Michael D., DeVault, Kenneth R., Drouin, Eric, Enav, Benjamin, Enders, Felicity T., Fleischer, David E., Foxx-Orenstein, Amy, Francis, Dawn L., Guyatt, Gordon H., Harris, Lucinda A., Kagalwalla, Amir F., Kita, Hirohito, Krishna, Murli, Lee, James J., Lewis, John C., Lim, Kaiser, Locke, G. Richard, III, Murray, Joseph A., Nguyen, Cuong C., Orbelo, Diana M., Pasha, Shabana F., Ramirez, Francisco C., Sheikh, Javed, Umar, Sarah B., Weiler, Catherine R., Wo, John M., Wu, Tsung-Teh, Yost, Kathleen J., Schoepfer, Alain M., Hirano, Ikuo, Coslovsky, Michael, Roumet, Marie C., Zwahlen, Marcel, Kuehni, Claudia E., Hafner, David, Alexander, Jeffrey A., Dellon, Evan S., Gonsalves, Nirmala, Leung, John, Bussmann, Christian, Collins, Margaret H., Newbury, Robert O., Smyrk, Thomas C., Woosley, John T., Yang, Guang-Yu, Romero, Yvonne, Katzka, David A., Furuta, Glenn T., Gupta, Sandeep K., Aceves, Seema S., Chehade, Mirna, Spergel, Jonathan M., Falk, Gary W., Meltzer, Brian A., Comer, Gail M., Straumann, Alex, and Safroneeva, Ekaterina

Published
2019
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