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3. Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study

Author

Inhestern, Laura, Otto, Ramona, Brandt, Maja, Zybarth, David, Oheim, Ralf, Schüler, Helke, Mir, Thomas S., Tsiakas, Konstantinos, Dibaj, Payam, Zschüntzsch, Jana, Okun, Pamela M., Hegenbart, Ute, Sommerburg, Olaf, Schramm, Christoph, Weiler-Normann, Christina, Härter, Martin, and Bergelt, Corinna

Published
2024
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4. Versorgung von Patienten mit kardialer Amyloidose: Konsensuspapier der Deutschen Gesellschaft für Kardiologie – Herz- und Kreislaufforschung e. V. (DGK), AG 40 Onkologische Kardiologie, und der Deutschen Gesellschaft für Hämatologie und medizinische Onkologie e. V. (DGHO), der Deutschen Gesellschaft für Neurologie e. V. (DGN) und der Deutschen Gesellschaft für Nephrologie e. V. (DGfN)

Author

Pfister, Roman, Hagenacker, Tim, Heemann, Uwe, Hegenbart, Ute, Heidecker, Bettina, Kruck, Sebastian, Knebel, Fabian, Lehmann, Lorenz, Morbach, Caroline, Rischpler, Christoph, Schulze, P. Christian, Yilmaz, Ali, and Perings, Christian

Published
2024
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5. High-throughput electron tomography identifies centriole over-elongation as an early event in plasma cell disorders

Author

Köhrer, Sebastian, Dittrich, Tobias, Schorb, Martin, Weinhold, Niels, Haberbosch, Isabella, Börmel, Mandy, Pajor, Gabor, Goldschmidt, Hartmut, Müller-Tidow, Carsten, Raab, Marc S., John, Lukas, Seckinger, Anja, Brobeil, Alexander, Dreger, Peter, Tornóczky, Tamás, Pajor, László, Hegenbart, Ute, Schönland, Stefan O., Schwab, Yannick, and Krämer, Alwin

Published
2023
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7. Healthcare Resource Utilization and Cost-of-Illness in Systemic Light Chain (AL) Amyloidosis in Europe: Results From the Real-World, Retrospective EMN23 Study

Author

Jaccard, Arnaud, Bridoux, Frank, Roeloffzen, Wilfried, Minnema, Monique C., Bergantim, Rui, Hájek, Roman, João, Cristina, Cibeira, M. Teresa, Palladini, Giovanni, Schönland, Stefan, Merlini, Giampaolo, Milani, Paolo, Dimopoulos, Meletios A., Ravichandran, Sriram, Hegenbart, Ute, Agis, Hermine, Gros, Blanca, Asra, Aisha, Magarotto, Valeria, Cheliotis, Giorgos, Psarros, Giorgos, Sonneveld, Pieter, Wechalekar, Ashutosh, and Kastritis, Efstathios

Published
2024
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10. The management of light chain (AL) amyloidosis in Europe: clinical characteristics, treatment patterns, and efficacy outcomes between 2004 and 2018

Author

Palladini, Giovanni, Schönland, Stefan, Merlini, Giampaolo, Milani, Paolo, Jaccard, Arnaud, Bridoux, Frank, Dimopoulos, Meletios A., Ravichandran, Sriram, Hegenbart, Ute, Roeloffzen, Wilfried, Cibeira, M. Teresa, Agis, Hermine, Minnema, Monique C., Bergantim, Rui, Hájek, Roman, João, Cristina, Leonidakis, Alexandros, Cheliotis, Giorgos, Sonneveld, Pieter, Kastritis, Efstathios, and Wechalekar, Ashutosh

Published
2023
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12. Prognostic impact of cytogenetic abnormalities detected by FISH in AL amyloidosis with daratumumab-based frontline therapy

Author

Chakraborty, Rajshekhar, Zanwar, Saurabh, Hegenbart, Ute, Bhutani, Divaya, Gertz, Morie A., Dispenzieri, Angela, Kumar, Shaji, D’Souza, Anita, Patwari, Anannya, Cowan, Andrew, Chen, GuiZhen, Milani, Paolo, Palladini, Giovanni, Sanchorawala, Vaishali, Bodanapu, Geethika, Schönland, Stefan O., Lentzsch, Suzanne, and Muchtar, Eli

Published
2024
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13. Different treatment strategies versus a common standard arm (CSA) in patients with newly diagnosed AML over the age of 60 years: a randomized German inter-group study

Author

Niederwieser, Dietger, Lang, Thomas, Krahl, Rainer, Heinicke, Thomas, Maschmeyer, Georg, Al-Ali, Haifa Kathrin, Schwind, Sebastian, Jentzsch, Madlen, Cross, Michael, Kahl, Christoph, Wolf, Hans-Heinrich, Sayer, Herbert, Schulze, Antje, Dreger, Peter, Hegenbart, Ute, Krämer, Alwin, Junghanss, Christian, Mügge, Lars-Olof, Hähling, Detlev, Hirt, Carsten, Späth, Christian, Peter, Norma, Opitz, Bernhard, Florschütz, Axel, Reifenrath, Kolja, Zojer, Niklas, Scholl, Sebastian, Pönisch, Wolfram, Heyn, Simone, Vucinic, Vladan, Hochhaus, Andreas, Aul, Carlo, Giagounidis, Aristoteles, Balleisen, Leopold, Oldenkott, Bernd, Staib, Peter, Kiehl, Michael, Schütte, Wolfgang, Naumann, Ralph, Eimermacher, Hartmut, Dörken, Bernd, Sauerland, Cristina, Lengfelder, Eva, Hiddemann, Wolfgang, Wörmann, Bernhard, Müller-Tidow, Carsten, Serve, Hubert, Schliemann, Christoph, Hehlmann, Rüdiger, Berdel, Wolfgang E., Pfirrmann, Markus, Krug, Utz, and Hoffmann, Verena S.

Published
2023
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14. Thiotepa–fludarabine–treosulfan conditioning for 2nd allogeneic HCT from an alternative unrelated donor for patients with AML: a prospective multicenter phase II trial

Author

Finke, Jürgen, Schmoor, Claudia, Stelljes, Matthias, Burchert, Andreas, Dreger, Peter, Hegenbart, Ute, Wagner-Drouet, Eva-Maria, Bornhäuser, Martin, Sohlbach, Kristina, Schub, Natalie, Reicherts, Christian, Kobbe, Guido, Glass, Bertram, Bertz, Hartmut, and Grishina, Olga

Published
2022
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15. Amyloidose

Author

Hagmeyer, Lars, Hegenbart, Ute, Schönland, Stefan, Kleibrink, Björn, Teschler, Helmut, Kreuter, Michael, editor, Costabel, Ulrich, editor, Herth, Felix JF, editor, and Kirsten, Detlef, editor

Published
2022
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16. Identification of isoaspartate-modified transthyretin as potential target for selective immunotherapy of transthyretin amyloidosis

Author

Köppen, Janett, primary, Kleinschmidt, Martin, additional, Morawski, Markus, additional, Rahfeld, Jens-Ulrich, additional, Wermann, Michael, additional, Cynis, Holger, additional, Hegenbart, Ute, additional, Daniel, Christoph, additional, Roßner, Steffen, additional, Schilling, Stephan, additional, and Schulze, Anja, additional

Published
2024
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17. Prognostic impact of cytogenetic abnormalities by FISH in systemic AL amyloidosis in the era of daratumumab and bortezomib-based frontline combination regimens

Author

Chakraborty, Rajshekhar, primary, Zanwar, Saurabh, primary, Bhutani, Divaya, primary, Gertz, Morie, primary, Dispenzieri, Angela, primary, Kumar, Shaji, primary, D’Souza, Anita, primary, Patwari, Anannya, primary, Cowan, Andrew, primary, Chen, GuiZhen, primary, Hegenbart, Ute, primary, Schönland, Stefan, primary, Milani, Paolo, primary, Palladini, Giovanni, primary, Sanchorawala, Vaishali, primary, Bodanapu, Geethika, primary, Lentzsch, Suzanne, primary, and Muchtar, Eli, primary

Published
2024
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18. Proposed hematologic progression criterion in patients with AL amyloidosis.

Author

Palladini, Giovanni, primary, Hegenbart, Ute, primary, Milani, Paolo, primary, Bellofiore, Claudia, primary, Basset, Marco, primary, Benvenuti, Pietro, primary, Nanci, Martina, primary, Nuvolone, Mario, primary, Ciardo, Martina, primary, Damiano, Giuseppe, primary, Benigna, Francesca, primary, Mussinelli, Roberta, primary, Foli, Andrea, primary, Merlini, Giampaolo, primary, and Schönland, Stefan, primary

Published
2024
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24. Biomarker-based renal response and progression criteria in AA amyloidosis: results from the testing cohort of the Pavia-Heidelberg study

Author

Basset, Marco, primary, Hegenbart, Ute, primary, Obici, Laura, primary, Riva, Eloisa, primary, Milani, Paolo, primary, Pasquinucci, Ettore, primary, Foli, Andrea, primary, Nanci, Martina, primary, Ciardo, Martina, primary, Corpina, Chiara, primary, Bellofiore, Claudia, primary, Benigna, Francesca, primary, Benvenuti, Pietro, primary, Damiano, Giuseppe, primary, Mussinelli, Roberta, primary, Nuvolone, Mario, primary, Albertini, Riccardo, primary, Merlini, Giampaolo, primary, Schönland, Stefan, primary, Blank, Norbert, primary, and Palladini, Giovanni, primary

Published
2024
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30. T2-relaxometry in a large cohort of hereditary transthyretin amyloidosis with polyneuropathy.

Author

Poncelet, Anysia, Hegenbart, Ute, Schönland, Stefan O., Sam, Georges, Purrucker, Jan C., Hund, Ernst, aus dem Siepen, Fabian, Göldner, Kira, Hayes, John M., Heiland, Sabine, Bendszus, Martin, Weiler, Markus, and Hayes, Jennifer C.

Subjects
*MAGNETIC resonance neurography, *NERVE conduction studies, *PERONEAL nerve, *PERIPHERAL nervous system, *TIBIAL nerve
Abstract

AbstractBackgroundMethodsResultsConclusionPreviously, T2-relaxation time (T2app) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).Eighty participants with pathologic variants of the transthyretin gene (TTRv) and 40 controls prospectively underwent magnetic resonance neurography. T2-relaxometry was performed, allowing to calculate tibial ρ, T2app and cross-sectional-area (CSA). Detailed clinical examinations and NCS of tibial and peroneal nerves were performed.Forty participants were classified as asymptomatic TTRv-carriers, 40 as symptomatic patients with polyneuropathy. ρ, T2app and CSA were significantly higher in symptomatic ATTRv amyloidosis (484.2 ± 14.8 a.u.; 70.6 ± 1.8 ms; 25.7 ± 0.9 mm2) versus TTRv-carriers (413.1 ± 9.4 a.u., p < 0.0001; 62.3 ± 1.3 ms, p = 0.0002; 19.0 ± 0.8 mm2, p < 0.0001) and versus controls (362.6 ± 7.5 a.u., p < 0.0001; 59.5 ± 1.0 ms, p < 0.0001; 15.4 ± 0.5 mm2, p < 0.0001). Only ρ and CSA differentiated TTRv-carriers from controls. ρ and CSA correlated with NCS in TTRv-carriers, while T2app correlated with NCS in symptomatic ATTRv amyloidosis. Both ρ and T2app correlated with clinical score.ρ and CSA can detect early nerve injury and correlate with electrophysiology in asymptomatic TTRv-carriers. T2app increases only in symptomatic ATTRv amyloidosis in whom it correlates with clinical scores and electrophysiology. Our results suggest that T2-relaxometry can provide biomarkers for disease- and therapy-monitoring in the future. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Response to therapy with tafamidis 61 mg in patients with cardiac transthyretin amyloidosis: real-world experience since approval.

Author

aus dem Siepen, Fabian, Meissner, Christopher, Hofmann, Eva, Hein, Selina, Nagel, Christian, Hegenbart, Ute, Schönland, Stefan O., Andre, Florian, Frey, Norbert, and Kristen, Arnt V.

Subjects
BRAIN natriuretic factor, SURVIVAL rate, KARNOFSKY Performance Status, VENTRICULAR ejection fraction, GLOMERULAR filtration rate, CARDIAC amyloidosis, HEART failure
Abstract

Aims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive disease that causes heart failure due to amyloid fibril deposition. Tafamidis was approved as the first causal treatment in 2020. We here report on real-world data in patients treated with tafamidis for at least 12 months according to the recently defined European Society for Cardiology (ESC) consensus criteria for disease progression. Methods and results: Three hundred and eight wildtype and 31 hereditary ATTR-CM patients were prospectively enrolled after first diagnosis of ATTR-CM and initiation of tafamidis 61 mg once daily treatment. After 12 months, significant deterioration in Karnofsky Index, estimated glomerular filtration rate (eGFR), N-terminal brain natriuretic peptide (NT-proBNP), septum thickness and left ventricular ejection fraction (LVEF) could be observed, significant disease progression was only detected in 25 patients (9%) using ESC consensus criteria. Mean survival time was 37 months with no differences between responders and non-responders. NT-proBNP was the only independent predictor for poor therapy response (p =.008). Conclusions: The majority of patients showed no significant disease progression according to the ESC consensus criteria after 12 months of therapy with tafamidis. However, at 12 months, treatment response based on the ESC consensus criteria was not associated with improved survival. Moreover, higher levels of NT-proBNP at diagnosis of ATTR-CM appears to predict poorer treatment response, confirming that timely initiation of therapy is advantageous. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Outcomes of renal transplantation in patients with AL amyloidosis: an international collaboration through The International Kidney and Monoclonal Gammopathy Research Group

Author

Havasi, Andrea, Heybeli, Cihan, Leung, Nelson, Angel-Korman, Avital, Sanchorawala, Vaishali, Cohen, Oliver, Wechalekar, Ashutosh, Bridoux, Frank, Jaffer, Insara, Gutgarts, Victoria, Hassoun, Hani, Levinson, Maya, Rosenbaum, Cara, Milani, Paolo, Palladini, Giovanni, Merlini, Giampaolo, Hegenbart, Ute, Schönland, Stefan, Veelken, Kaya, Pogrebinsky, Alexander, Doros, Gheorghe, and Landau, Heather

Published
2022
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34. Teclistamab in relapsed or refractory AL amyloidosis: a multinational retrospective case series

Author

Forgeard, Nathalie, primary, Elessa, Dikélélé, additional, Carpinteiro, Alexander, additional, Belhadj, Karim, additional, Minnema, Monique, additional, Roussel, Murielle, additional, Huart, Antoine, additional, Javaugue, Vincent, additional, Pascal, Laurent, additional, Royer, Bruno, additional, Talbot, Alexis, additional, Gounot, Romain, additional, Hegenbart, Ute, additional, Schonland, Stefan, additional, Karlin, Lionel, additional, Harel, Stéphanie, additional, Kastritis, Efstathios, additional, Bridoux, Frank, additional, Jaccard, Arnaud, additional, and Arnulf, Bertrand, additional

Published
2024
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37. Search for AL amyloidosis risk factors using Mendelian randomization

Author

Saunders, Charlie N., Chattopadhyay, Subhayan, Huhn, Stefanie, Weinhold, Niels, Hoffmann, Per, Nöthen, Markus M., Jöckel, Karl-Heinz, Schmidt, Börge, Landi, Stefano, Goldschmidt, Hartmut, Milani, Paolo, Merlini, Giampaolo, Rowcieno, Dorota, Hawkins, Philip, Hegenbart, Ute, Palladini, Giovanni, Wechalekar, Ashutosh, Schönland, Stefan O., Försti, Asta, Houlston, Richard, and Hemminki, Kari

Published
2021
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38. Allogeneic hematopoietic stem cell transplantation improves long-term outcome for relapsed AML patients across all ages: results from two East German Study Group Hematology and Oncology (OSHO) trials

Author

Heinicke, Thomas, Krahl, Rainer, Kahl, Christoph, Cross, Michael, Scholl, Sebastian, Wolf, Hans-Heinrich, Hähling, Detlev, Hegenbart, Ute, Peter, Norma, Schulze, Antje, Florschütz, Axel, Schmidt, Volker, Reifenrath, Kolja, Zojer, Niklas, Junghanss, Christian, Sayer, Herbert G., Maschmeyer, Georg, Späth, Christian, Hochhaus, Andreas, Fischer, Thomas, Al-Ali, Haifa Kathrin, and Niederwieser, Dietger

Published
2021
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42. CAR T cells or allogeneic transplantation as standard of care for advanced large B-cell lymphoma: an intent-to-treat comparison

Author

Dreger, Peter, Dietrich, Sascha, Schubert, Maria-Luisa, Selberg, Lorenz, Bondong, Andrea, Wegner, Mandy, Stadtherr, Peter, Kimmich, Christoph, Kosely, Florentina, Schmitt, Anita, Pavel, Petra, Liebers, Nora, Luft, Thomas, Hegenbart, Ute, Radujkovic, Aleksandar, Ho, Anthony Dick, Müller-Tidow, Carsten, and Schmitt, Michael

Published
2020
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44. Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma.

Author

Schreiner, Sarah, Berghaus, Natalie, Poos, Alexandra M., Raab, Marc S., Besemer, Britta, Fenk, Roland, Goldschmidt, Hartmut, Mai, Elias K., Müller-Tidow, Carsten, Weinhold, Niels, Hegenbart, Ute, Huhn, Stefanie, and Schönland, Stefan O.

Subjects
MULTIPLE myeloma, IMMUNOGLOBULIN light chains, AMYLOIDOSIS, RNA sequencing, MULTIPLE comparisons (Statistics)
Abstract

AL amyloidosis (AL) results from the misfolding of immunoglobulin light chains (IG LCs). Aim of this study was to comprehensively analyse kappa LC sequences from AL patients in comparison with multiple myeloma (MM). We analysed IGKV/IGKJ usage and associated organ tropism and IGKV1/D-33 in terms of mutational analysis and theoretical biochemical properties. cDNA and bulk RNA sequencing of the LCs of AL and MM patients. We studied 41 AL and 83 MM patients showing that IGKV1 was most expressed among kappa AL and MM, with higher frequency in AL (80% vs. 53%, p =.002). IGKV3 was underrepresented in AL (10% vs. 30%, p =.014). IGKJ2 was more commonly used in AL than in MM (39% vs. 29%). Patients with IGKV1/D-33 were associated with heart involvement (75%, p =.024). IGKV1/D-33-segments of AL had a higher mutation count (AL = 12.0 vs. MM = 10.0). FR3 and CDR3 were most frequently mutated in both, with a median mutation count in FR3 being the highest (AL = 4.0; MM = 3.5) and one mutation hotspot (FR3 (83I)) for IGKV1/D-33/IGKJ2 was associated with cardiac involvement. This study confirmed that germline usage has an influence on AL amyloidosis risk and organ involvement. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Versorgung von Patienten mit kardialer Amyloidose

Author

Pfister, Roman, primary, Hagenacker, Tim, additional, Heemann, Uwe, additional, Hegenbart, Ute, additional, Heidecker, Bettina, additional, Kruck, Sebastian, additional, Knebel, Fabian, additional, Lehmann, Lorenz, additional, Morbach, Caroline, additional, Rischpler, Christoph, additional, Schulze, P. Christian, additional, Yilmaz, Ali, additional, and Perings, Christian, additional

Published
2023
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46. Autologous-allogeneic versus autologous tandem stem cell transplantation and maintenance therapy with thalidomide for multiple myeloma patients over 60 years of age: a prospective phase II study

Author

Kröger, Nicolaus, primary, Wulf, Gerald, additional, Hegenbart, Ute, additional, Burchert, Andreas, additional, Stelljes, Matthias, additional, Gagelmann, Nico, additional, Brecht, Arne, additional, Kaufmann, Martin, additional, Müller, Lutz, additional, Ganser, Arnold, additional, Wolf, Dominik, additional, Bethge, Wolfgang, additional, Bornhäuser, Martin, additional, Kiehl, Michael, additional, Wagner, Eva-Maria, additional, Schmid, Christoph, additional, Reinhardt, Christian, additional, Kobbe, Guido, additional, Salwender, Hans, additional, Heinicke, Thomas, additional, Kropff, Martin, additional, Heinzelmann, Marion, additional, Ayuk, Francis, additional, Trümper, Lorenz, additional, Neubauer, Andreas, additional, Völp, Andreas, additional, Kluychnikov, Evgeny, additional, Schönland, Stefan, additional, and Wolschke, Christine, additional

Published
2023
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