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1. EXCESS workshop: Descriptions of rising low-energy spectra

Author

P. Adari, A. Aguilar-Arevalo, D. Amidei, G. Angloher, E. Armengaud, C. Augier, L. Balogh, S. Banik, D. Baxter, C. Beaufort, G. Beaulieu, V. Belov, Y. Ben Gal, G. Benato, A. Benoît, A. Bento, L. Bergé, A. Bertolini, R. Bhattacharyya, J. Billard, I.M. Bloch, A. Botti, R. Breier, G. Bres, J-.L. Bret, A. Broniatowski, A. Brossard, C. Bucci, R. Bunker, M. Cababie, M. Calvo, P. Camus, G. Cancelo, L. Canonica, F. Cappella, L. Cardani, J.-F. Caron, N. Casali, G.del Castello, A. Cazes, R. Cerulli, B.A. Cervantes Vergara, D. Chaize, M. Chapellier, L. Chaplinsky, F. Charlieux, M. Chaudhuri, A.E. Chavarria, G. Chemin, R. Chen, H. Chen, F. Chierchie, I. Colantoni, J. Colas, J. Cooley, J.-M. Coquillat, E.C. Corcoran, S. Crawford, M. Crisler, A. Cruciani, P. Cushman, A. D'Addabbo, J.C. D'Olivo, A. Dastgheibi-Fard, M. De Jésus, Y. Deng, J.B. Dent, E.L. Depaoli, K. Dering, S. Dharani, S. Di Lorenzo, A. Drlica-Wagner, L. Dumoulin, D. Durnford, B. Dutta, L. Einfalt, A. Erb, A. Erhart, R. Essig, J. Estrada, E. Etzion, O. Exshaw, F. Favela-Perez, F. v. Feilitzsch, G. Fernandez Moroni, N. Ferreiro Iachellini, S. Ferriol, S. Fichtinger, E. Figueroa-Feliciano, J.-B. Filippini, D. Filosofov, J. A. Formaggio, M. Friedl, S. Fuard, D. Fuchs, A. Fuss, R. Gaïor, A. Garai, C. Garrah, J. Gascon , G. Gerbier, M. Ghaith, V.M. Ghete, D. Gift, I. Giomataris, G. Giroux, A. Giuliani, P. Gorel, P. Gorla, C. Goupy, J. Goupy, C. Goy, M. Gros, P. Gros, Y. Guardincerri, C. Guerin, V. Guidi, O. Guillaudin, S. Gupta, E. Guy, P. Harrington, D. Hauff, S. T. Heine, S. A. Hertel, S.E. Holland, Z. Hong, E.W. Hoppe, T.W. Hossbach, J.-C. Ianigro, V. Iyer, A. Jastram, M. Ješkovský, Y. Jin, J. Jochum, J. P. Johnston, A. Juillard, D. Karaivanov, V. Kashyap, I. Katsioulas, S. Kazarcev, M. Kaznacheeva, F. Kelly, B. Kilminster, A. Kinast, L. Klinkenberg, H. Kluck, P. Knights, Y. Korn, H. Kraus, B. von Krosigk, A. Kubik, N.A. Kurinsky, J. Lamblin, A. Langenkämper, S. Langrock, T. Lasserre, H. Lattaud, P. Lautridou, I. Lawson, S.J. Lee, M. Lee, A. Letessier-Selvon, D. Lhuillier, M. Li, Y.-T. Lin, A. Lubashevskiy, R. Mahapatra, S. Maludze, M. Mancuso, I. Manthos, L. Marini, S. Marnieros, R.D. Martin, A. Matalon, J. Matthews, B. Mauri, D. W. Mayer, A. Mazzolari, E. Mazzucato, H. Meyer zu Theenhausen, E. Michielin, J. Minet, N. Mirabolfathi, K. v. Mirbach, D. Misiak, P. Mitra, J-.L. Mocellin, B. Mohanty, V. Mokina, J.-P. Mols, A. Monfardini, F. Mounier, S. Munagavalasa, J.-F. Muraz, X.-F. Navick, T. Neep, H. Neog, H. Neyrial, K. Nikolopoulos, A. Nilima, C. Nones, V. Novati, P. O'Brien, L. Oberauer, E. Olivieri, M. Olmi, A. Onillon, C. Oriol, A. Orly, J.L. Orrell, T. Ortmann, C.T. Overman, C. Pagliarone, V. Palušová, P. Pari, P. K. Patel, L. Pattavina, F. Petricca, A. Piers, H. D. Pinckney, M.-C. Piro, M. Platt, D. Poda, D. Ponomarev, W. Potzel, P. Povinec, F. Pröbst, P. Privitera, F. Pucci, K. Ramanathan, J.-S. Real, T. Redon, F. Reindl, R. Ren, A. Robert, J.Da Rocha, D. Rodrigues, R. Rogly, J. Rothe, N. Rowe, S. Rozov, I. Rozova, T. Saab, N. Saffold, T. Salagnac, J. Sander, V. Sanglard, D. Santos, Y. Sarkis, V. Savu, G. Savvidis, I. Savvidis, S. Schönert, K. Schäffner, N. Schermer, J. Schieck, B. Schmidt, D. Schmiedmayer, C. Schwertner, L. Scola, M. Settimo, Ye. Shevchik, V. Sibille, I. Sidelnik, A. Singal, R. Smida, M. Sofo Haro, T. Soldner, J. Stachurska, M. Stahlberg, L. Stefanazzi, L. Stodolsky, C. Strandhagen, R. Strauss, A. Stutz, R. Thomas, A. Thompson, J. Tiffenberg, C. Tomei, M. Traina, S. Uemura, I. Usherov, L. Vagneron, W. Van De Pontseele, F.A. Vazquez de Sola Fernandez, M. Vidal, M. Vignati, A.L. Virto, M. Vivier, T. Volansky, V. Wagner, F. Wagner, J. Walker, R. Ward, S.L. Watkins, A. Wex, M. Willers, M.J. Wilson, L. Winslow, E. Yakushev, T.-T. Yu, M. Zampaolo, A. Zaytsev, V. Zema, D. Zinatulina, A. Zolotarova

Subjects
Physics, QC1-999
Abstract

Many low-threshold experiments observe sharply rising event rates of yet unknown origins below a few hundred eV, and larger than expected from known backgrounds. Due to the significant impact of this excess on the dark matter or neutrino sensitivity of these experiments, a collective effort has been started to share the knowledge about the individual observations. For this, the EXCESS Workshop was initiated. In its first iteration in June 2021, ten rare event search collaborations contributed to this initiative via talks and discussions. The contributing collaborations were CONNIE, CRESST, DAMIC, EDELWEISS, MINER, NEWS-G, NUCLEUS, RICOCHET, SENSEI and SuperCDMS. They presented data about their observed energy spectra and known backgrounds together with details about the respective measurements. In this paper, we summarize the presented information and give a comprehensive overview of the similarities and differences between the distinct measurements. The provided data is furthermore publicly available on the workshop’s data repository together with a plotting tool for visualization.

Published
2022
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2. Data from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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3. Supplementary Figure 3 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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4. Supplementary Figure 1 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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5. Supplementary Figure 4 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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6. Supplementary Figure Legends 1-5 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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7. Supplementary Table 2 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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8. Supplementary Table 1 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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9. Supplementary Figure 5 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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10. Supplementary Figure 2 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Middelbeek, Jeroen, primary, Kuipers, Arthur J., primary, Henneman, Linda, primary, Visser, Daan, primary, Eidhof, Ilse, primary, van Horssen, Remco, primary, Wieringa, Bé, primary, Canisius, Sander V., primary, Zwart, Wilbert, primary, Wessels, Lodewyk F., primary, Sweep, Fred C.G.J., primary, Bult, Peter, primary, Span, Paul N., primary, van Leeuwen, Frank N., primary, and Jalink, Kees, primary

Published
2023
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11. Supplementary Figure 5 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 114K, Uncropped immunoblots and autoradiograms

Published
2023

12. Supplementary Figure 4 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 643K, Rho-kinase inhibition rescues contractile and migratory phenotype of TRPM7 shRNA cells

Published
2023

13. Supplementary Figure 3 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 54K, TRPM7 shRNA#2 treatment reduces malignant phenotype of MDA-MB-231 cells

Published
2023

14. Supplementary Figure 1 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 119K, TRPM7 expression measurements on TRPM7 knockdown MDA-MB-231 and MCF7 cells and TRPM7 rescued cells

Published
2023

15. Supplementary Table 1 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 92K, Patient- and tumor characteristics in discovery and validation cohort

Published
2023

16. Supplementary Figure 2 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 3.9MB, TRPM7 knockdown does not affect MDA-MB-231 cell proliferation but impairs metastasis formation in vivo

Published
2023

17. Data from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

TRPM7 encodes a Ca2+-permeable nonselective cation channel with kinase activity. TRPM7 has been implicated in control of cell adhesion and migration, but whether TRPM7 activity contributes to cancer progression has not been established. Here we report that high levels of TRPM7 expression independently predict poor outcome in breast cancer patients and that it is functionally required for metastasis formation in a mouse xenograft model of human breast cancer. Mechanistic investigation revealed that TRPM7 regulated myosin II–based cellular tension, thereby modifying focal adhesion number, cell–cell adhesion and polarized cell movement. Our findings therefore suggest that TRPM7 is part of a mechanosensory complex adopted by cancer cells to drive metastasis formation. Cancer Res; 72(16); 4250–61. ©2012 AACR.

Published
2023

18. Supplementary Table 2 from TRPM7 Is Required for Breast Tumor Cell Metastasis

Author

Kees Jalink, Frank N. van Leeuwen, Paul N. Span, Peter Bult, Fred C.G.J. Sweep, Lodewyk F. Wessels, Wilbert Zwart, Sander V. Canisius, Bé Wieringa, Remco van Horssen, Ilse Eidhof, Daan Visser, Linda Henneman, Arthur J. Kuipers, and Jeroen Middelbeek

Abstract

PDF file - 96K, TRPM7 expression levels and clinical parameters

Published
2023

29. Tuberous sclerosis complex-associated neuropsychiatric disorders (TAND): further results from the TOSCA natural history study

Author

De Vries, P. J., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Dahlin, M., Amato, L. D, Augeres, G. B. D, Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Kingswood, J. C., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., OʼCallaghan, F., Qin, J., Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., and Jansen, A. C.

Published
2017

30. Quality of life and burden of disease in tuberous sclerosis complex (TSC): findings from TOSCA research project

Author

Jansen, A. C., Belousova, E., Benedik, M. P., Carter, T., Cottin, V., Curatolo, P., Amato, L. D, Augeres, G. B. D, De Vries, P. J., Ferreira, J. C., Feucht, M., Fladrowski, C., Hertzberg, C., Jozwiak, S., Lawson, J. A., Macaya, A., Marques, R., Nabbout, R., OʼCallaghan, F., Qin, J., Sander, V., Shah, S., Takahashi, Y., Touraine, R., Youroukos, S., Zonnenberg, B., and Kingswood, J. C.

Published
2017

31. How the Second Delta Committee Set the Agenda for Climate Adaptation Policy: A Dutch Case Study on Framing Strategies for Policy Change

Author

Simon H. Verduijn, Sander V. Meijerink, and Pieter Leroy

Subjects
Framing strategies, agenda setting, policy change, crises, climate change, the Netherlands, Hydraulic engineering, TC1-978
Abstract

In 2008, the Second State Delta Committee, commissioned by the Dutch Secretary of Public Works and Water Management, provided suggestions on how to defend the Netherlands against the expected impacts of climate change, such as sea level rise, longer periods of drought, more intense periods of rainfall and additional land subsidence over the coming two hundred years (Veerman, 2008). In this paper we show that even though no crisis actually occurred, the Second Delta Committee succeeded in three areas. First, the committee managed to create awareness and set the agenda for climate adaptation policy and the issue of safety in Dutch water management. Second, the committee succeeded to a large extent in getting the media, the public and politics to accept its frame and framing of the problems, causes, moral judgments and suggested remedies. Third, the committee has to a certain degree already succeeded in having its recommendations translated into policy programmes. It will be argued that framing strategies were key to the committee’s success and that the committee used various framing strategies to convince the Cabinet, citizens and others of the urgency and necessity of implementing adaptation measures. The most important framing strategies identified were adherence to the climate adaptation narrative, using the story of our delta identity, creating a sense of urgency and collectiveness, and creating a crisis narrative.

Published
2012

34. TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

Author

Kingswood, JC, Belousova, E, Benedik, MP, Budde, K, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augères, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, AC, and TOSCA Consortium and TOSCA Investigators

Abstract

This non-interventional post-authorisation safety study (PASS) assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) who participated in the TuberOus SClerosis registry to increase disease Awareness (TOSCA) clinical study and received everolimus for the licensed indications in the European Union. The rate of adverse events (AEs), AEs that led to dose adjustments or treatment discontinuation, AEs of potential clinical interest, treatment-related AEs (TRAEs), serious AEs (SAEs), and deaths were documented. One hundred seventy-nine patients were included in the first 5 years of observation; 118 of 179 patients had an AE of any grade, with the most common AEs being stomatitis (7.8%) and headache (7.3%). AEs caused dose adjustments in 56 patients (31.3%) and treatment discontinuation in nine patients (5%). AEs appeared to be more frequent and severe in children. On Tanner staging, all patients displayed signs of age-appropriate sexual maturation. Twenty-two of 106 female (20.8%) patients had menstrual cycle disorders. The most frequent TRAEs were stomatitis (6.7%) and aphthous mouth ulcer (5.6%). SAEs were reported in 54 patients (30.2%); the most frequent SAE was pneumonia (>3% patients; grade 2, 1.1%, and grade 3, 2.8%). Three deaths were reported, all in patients who had discontinued everolimus for more than 28 days, and none were thought to be related to everolimus according to the treating physicians. The PASS sub-study reflects the safety and tolerability of everolimus in the management of TSC in real-world routine clinical practice.

Published
2021

35. Geodetic SAR for Height System Unification and Sea Level Research - Observation Concept and Results in the Baltic Sea

Author

Gruber, T, Ågren, Jonas, Angermann, D., Ellmann, A., Engfeldt, A., Gisinger, C., Jaworski, L., Marila, M., Nastula, J., Nilfouroushan, Faramarz, Oikonomidou, X., Poutanen, M., Saari, T, Schlaak, M, Światek, A, Sander, V, Zdunek, R, Gruber, T, Ågren, Jonas, Angermann, D., Ellmann, A., Engfeldt, A., Gisinger, C., Jaworski, L., Marila, M., Nastula, J., Nilfouroushan, Faramarz, Oikonomidou, X., Poutanen, M., Saari, T, Schlaak, M, Światek, A, Sander, V, and Zdunek, R

Abstract

Traditionally, sea level is observed at tide gauge stations, which usually also serve as height reference stations for national leveling networks and therefore define a height system of a country. Thus, sea level research across countries is closely linked to height system unification and needs to be regarded jointly. One of the main deficiencies to use tide gauge data for geodetic sea level research and height systems unification is that only a few stations are connected to permanent GNSS receivers next to the tide gauge in order to systematically observe vertical land motion. As a new observation technique, absolute positioning by SAR using active transponders on ground can fill this gap by systematically observing time series of geometric heights at tide gauge stations. By additionally knowing the tide gauge geoid heights in a global height reference frame, one can finally obtain absolute sea level heights at each tide gauge. With this information the impact of climate change on the sea level can be quantified in an absolute manner and height systems can be connected across the oceans. First results from applying this technique at selected tide gauges at the Baltic coasts are promising but also exhibit some problems related to the new technique. The paper presents the concept of using the new observation type in an integrated sea level observing system and provides results for a test network in the Baltic sea area by combining geometric and physical heights with tide gauge readings.

Published
2021

37. Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

Author

de Vries, PJ, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, Beaure d'Augères, G, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, and TOSCA Investigators

Abstract

Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, international cohort. Methods: Individuals of any age with a documented visit for TSC in the 12 months prior to enrolment were included. Frequency and percentages of baseline TAND manifestations were presented by categories of IA (no intellectual disability [ID, intelligence quotient (IQ)>70]; mild ID [IQ 50-70]; moderate-to-profound ID [IQ

Published
2020

38. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas

Author

Kingswood, J.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. Dahlin, M. D'Amato, L. Beaure d'Augères, G. de Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. Macaya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Jansen, A.C. Sauter, M. TOSCA Consortium TOSCA Investigators

Abstract

Renal angiomyolipomas are one of the most common renal manifestations in patients with tuberous sclerosis complex (TSC), with potentially life-threatening complications and a poor prognosis. Despite the considerable progress in understanding TSC-associated renal angiomyolipomas, there are no large scale real-world data. The aim of our present study was to describe in detail the prevalence and outcome of renal angiomyolipomas in patients with TSC, enrolled into the TuberOus SClerosis registry to increase disease Awareness (TOSCA) from 170 sites across 31 countries worldwide. We also sought to evaluate the relationship of TSC-associated renal angiomyolipomas with age, gender and genotype. The potential risk factors for renal angiomyolipoma-related bleeding and chronic kidney disease (CKD) were studied in patients who participated in the TOSCA renal angiomyolipoma substudy. Of the 2,211 eligible patients, 1,062 (48%) reported a history of renal angiomyolipomas. The median age of TSC diagnosis for the all subjects (n = 2,211) was 1 year. The median age of diagnosis of renal angiomyolipoma in the 1,062 patients was 13 years. Renal angiomyolipomas were significantly more prevalent in female patients (p < 0.0001). Rates of angiomyolipomas >3 cm (p = 0.0119), growing lesions (p = 0.0439), and interventions for angiomyolipomas (p = 0.0058) were also higher in females than males. Pre-emptive intervention for renal angiomyolipomas with embolisation, surgery, or mammalian target of rapamycin (mTOR) inhibitor may have abolished the gender difference in impaired renal function, hypertension, and other complications. The rate of interventions for angiomyolipomas was less common in children than in adults, but interventions were reported in all age groups. In the substudy of 76 patients the complication rate was too low to be useful in predicting risk for more severe CKD. In addition, in this substudy no patient had a renal hemorrhage after commencing on an mTOR inhibitor. Our findings confirmed that renal angiomyolipomas in subjects with TSC1 mutations develop on average at the later age, are relatively smaller in size and less likely to be growing; however, by age 40 years, no difference was observed in the percentage of patients with TSC1 and TSC2 mutations needing intervention. The peak of appearance of new renal angiomyolipomas was observed in patients aged between 18 and 40 years, but, given that angiomyolipomas can occur later, lifelong surveillance is necessary. We found that pre-emptive intervention was dramatically successful in altering the outcome compared to historical controls; with high pre-emptive intervention rates but low rates of bleeding and other complications. This validates the policy of surveillance and pre-emptive intervention recommended by clinical guidelines. © Copyright © 2020 Kingswood, Belousova, Benedik, Carter, Cottin, Curatolo, Dahlin, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Shah, Takahashi, Touraine, Youroukos, Zonnenberg, Jansen and Sauter.

Published
2020

39. Impaired cerebellar functional connectivity in schizophrenia patients and their healthy siblings

Author

Guusje eCollin, Hilleke E. Hulshoff Pol, Sander V. Haijma, Wiepke eCahn, Rene S. Kahn, and Martijn P. van den Heuvel

Subjects
Cerebellum, Schizophrenia, Siblings, functional connectivity, Dysconnectivity, Resting-state fMRI, Psychiatry, RC435-571
Abstract

The long-standing notion of schizophrenia as a disorder of connectivity is supported by emerging evidence from recent neuroimaging studies, suggesting impairments of both structural and functional connectivity in schizophrenia. However, investigations are generally restricted to supratentorial brain regions, thereby excluding the cerebellum. As increasing evidence suggests that the cerebellum contributes to cognitive and affective processing, aberrant connectivity in schizophrenia may include cerebellar dysconnectivity. Moreover, as schizophrenia is highly heritable, unaffected family members of schizophrenia patients may exhibit similar connectivity profiles. The present study applies resting-state fMRI to determine cerebellar functional connectivity profiles, and the familial component of cerebellar connectivity profiles, in 62 schizophrenia patients and 67 siblings of schizophrenia patients. Compared to healthy control subjects, schizophrenia patients showed impaired functional connectivity between the cerebellum and several left-sided cerebral regions, including the hippocampus, thalamus, middle cingulate gyrus, triangular part of the inferior frontal gyrus, supplementary motor area and lingual gyrus (all p

Published
2011
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43. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

Author

Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., and Baulac, S.

Published
2019

44. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

Author

Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. MacAya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Sauter, M. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Kingswood, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators

Abstract

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.

Published
2019

45. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Author

Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, and Trollmann, R

Subjects
0301 basic medicine, medicine.medical_specialty, Pediatrics, Neurology, Disease, tuberous sclerosis complex, 030105 genetics & heredity, registry, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Intellectual disability, medicine, Seizure control, TOSCA, business.industry, epilepsy, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, 3. Good health, medicine.anatomical_structure, Cohort, Full‐length Original Research, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery
Abstract

Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median

Published
2019

48. Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Author

Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, Beaure d'Augères, G, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, Beaure d'Augères, G, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, and Kingswood, JC

Abstract

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2.

Published
2019

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