37,467 results on '"et. al."'
Search Results
2. Ende gut, alles gut? Zu den Kostenfolgen von Verfahrensanträgen im schweizerischen Zivilprozess
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Bopp, Dominik; https://orcid.org/0009-0006-5615-6831, et al, Bopp, D ( Dominik ), et al, ( ), Strub, Franco, Bopp, Dominik; https://orcid.org/0009-0006-5615-6831, et al, Bopp, D ( Dominik ), et al, ( ), and Strub, Franco
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- 2024
3. Examining the association between posttraumatic stress disorder and disruptions in cortical networks identified using data-driven methods
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Experimental psychopathology, Leerstoel Engelhard, Yang, J., Huggins, A.A., Sun, D. et al, van Zuiden, M., Experimental psychopathology, Leerstoel Engelhard, Yang, J., Huggins, A.A., Sun, D. et al, and van Zuiden, M.
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- 2024
4. Effects of plant diversity on productivity strengthen over time due to trait-dependent shifts in species overyielding
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Zheng, L., Barry, K.E., Guerrero-Ramírez, N.R., Craven, D., Reich, P.B., Verheyen, K., Scherer-Lorenzen, M., Eisenhauer, N., Barsoum, N., Bauhus, J., Bruelheide, H., Cavender-Bares, J., Dolezal, J., Auge, Harald, Fagundes, M.V., Ferlian, O., Fiedler, S., Forrester, D.I., Ganade, G. et al., Zheng, L., Barry, K.E., Guerrero-Ramírez, N.R., Craven, D., Reich, P.B., Verheyen, K., Scherer-Lorenzen, M., Eisenhauer, N., Barsoum, N., Bauhus, J., Bruelheide, H., Cavender-Bares, J., Dolezal, J., Auge, Harald, Fagundes, M.V., Ferlian, O., Fiedler, S., Forrester, D.I., and Ganade, G. et al.
- Abstract
Plant diversity effects on community productivity often increase over time. Whether the strengthening of diversity effects is caused by temporal shifts in species-level overyielding (i.e., higher species-level productivity in diverse communities compared with monocultures) remains unclear. Here, using data from 65 grassland and forest biodiversity experiments, we show that the temporal strength of diversity effects at the community scale is underpinned by temporal changes in the species that yield. These temporal trends of species-level overyielding are shaped by plant ecological strategies, which can be quantitatively delimited by functional traits. In grasslands, the temporal strengthening of biodiversity effects on community productivity was associated with increasing biomass overyielding of resource-conservative species increasing over time, and with overyielding of species characterized by fast resource acquisition either decreasing or increasing. In forests, temporal trends in species overyielding differ when considering above- versus belowground resource acquisition strategies. Overyielding in stem growth decreased for species with high light capture capacity but increased for those with high soil resource acquisition capacity. Our results imply that a diversity of species with different, and potentially complementary, ecological strategies is beneficial for maintaining community productivity over time in both grassland and forest ecosystems.
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- 2024
5. Soil macrofauna communities in Brazilian land-use systems
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Brown, George G., Demetrio, Wilian C., Gabriac, Quentin, Pasini, Amarildo, Korasaki, Vanesca, Oliveira, Lenita J., Dos Santos, Julia C.F., Torres, Eleno, Galerani, Paulo R., Gazziero, Dionisio L.P., Benito, Norton P., Nunes, Daiane H., Santos, Alessandra, Ferreira, Talita, Nadolny, Herlon S., Bartz, Marie, Maschio, Wagner, Dudas, Rafaela T., Zagatto, Mauricio R.G., Niva, Cintia C., Clasen, Lina, Sautter, Klaus D., Froufe, Luis C.M., Seoane, Carlos Eduardo S., De Moraes, Anibal, James, Samuel, Alberton, Odair, Brandão Júnior, Osvaldino, Saraiva, Odilon, Garcia, Antonio, Oliveira, Elma, César, Raul M., Corrêa-Ferreira, Beatriz S., Bruz, Lilianne S.M., da Silva, Elodie, Cardoso, Gilherme B.X., Lavelle, Patrick, Velasquez, Elena, Cremonesi, Marcus, Parron, Lucília M., Baggio, Amilton J., Neves, Edinelson, Hungria, Mariangela, Campos, Thiago A., da Silva, Wagner L., Reissmann, Carlos B., Conrado, Ana C., Bouillet, Jean-Pierre, Gonçalves, José Leonardo M., Brandani, Carolina B., Viani, Ricardo A.G., Paula, Ranieri Ribeiro, Laclau, Jean-Paul, et al., Brown, George G., Demetrio, Wilian C., Gabriac, Quentin, Pasini, Amarildo, Korasaki, Vanesca, Oliveira, Lenita J., Dos Santos, Julia C.F., Torres, Eleno, Galerani, Paulo R., Gazziero, Dionisio L.P., Benito, Norton P., Nunes, Daiane H., Santos, Alessandra, Ferreira, Talita, Nadolny, Herlon S., Bartz, Marie, Maschio, Wagner, Dudas, Rafaela T., Zagatto, Mauricio R.G., Niva, Cintia C., Clasen, Lina, Sautter, Klaus D., Froufe, Luis C.M., Seoane, Carlos Eduardo S., De Moraes, Anibal, James, Samuel, Alberton, Odair, Brandão Júnior, Osvaldino, Saraiva, Odilon, Garcia, Antonio, Oliveira, Elma, César, Raul M., Corrêa-Ferreira, Beatriz S., Bruz, Lilianne S.M., da Silva, Elodie, Cardoso, Gilherme B.X., Lavelle, Patrick, Velasquez, Elena, Cremonesi, Marcus, Parron, Lucília M., Baggio, Amilton J., Neves, Edinelson, Hungria, Mariangela, Campos, Thiago A., da Silva, Wagner L., Reissmann, Carlos B., Conrado, Ana C., Bouillet, Jean-Pierre, Gonçalves, José Leonardo M., Brandani, Carolina B., Viani, Ricardo A.G., Paula, Ranieri Ribeiro, Laclau, Jean-Paul, and et al.
- Abstract
Background: Soil animal communities include more than 40 higher-order taxa, representing over 23% of all described species. These animals have a wide range of feeding sources and contribute to several important soil functions and ecosystem services. Although many studies have assessed macroinvertebrate communities in Brazil, few of them have been published in journals and even fewer have made the data openly available for consultation and further use. As part of ongoing efforts to synthesise the global soil macrofauna communities and to increase the amount of openly-accessible data in GBIF and other repositories related to soil biodiversity, the present paper provides links to 29 soil macroinvertebrate datasets covering 42 soil fauna taxa, collected in various land-use systems in Brazil. A total of 83,085 georeferenced occurrences of these taxa are presented, based on quantitative estimates performed using a standardised sampling method commonly adopted worldwide to collect soil macrofauna populations, i.e. the TSBF (Tropical Soil Biology and Fertility Programme) protocol. This consists of digging soil monoliths of 25 x 25 cm area, with handsorting of the macroinvertebrates visible to the naked eye from the surface litter and from within the soil, typically in the upper 0-20 cm layer (but sometimes shallower, i.e. top 0-10 cm or deeper to 0-40 cm, depending on the site). The land-use systems included anthropogenic sites managed with agricultural systems (e.g. pastures, annual and perennial crops, agroforestry), as well as planted forests and native vegetation located mostly in the southern Brazilian State of Paraná (96 sites), with a few additional sites in the neighbouring states of São Paulo (21 sites) and Santa Catarina (five sites). Important metadata on soil properties, particularly soil chemical parameters (mainly pH, C, P, Ca, K, Mg, Al contents, exchangeable acidity, Cation Exchange Capacity, Base Saturation and, infrequently, total N), particle size distrib
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- 2024
6. ReSurveyEurope: A database of resurveyed vegetation plots in Europe
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Knollová, I., Chytrý, M., Bruelheide, H., Dullinger, S., Jandt, U., Bernhardt-Römermann, M., Biurrun, I., Roscher, Christiane, Rosenthal, G., et al., Knollová, I., Chytrý, M., Bruelheide, H., Dullinger, S., Jandt, U., Bernhardt-Römermann, M., Biurrun, I., Roscher, Christiane, and Rosenthal, G., et al.
- Abstract
Aims We introduce ReSurveyEurope — a new data source of resurveyed vegetation plots in Europe, compiled by a collaborative network of vegetation scientists. We describe the scope of this initiative, provide an overview of currently available data, governance, data contribution rules, and accessibility. In addition, we outline further steps, including potential research questions. Results ReSurveyEurope includes resurveyed vegetation plots from all habitats. Version 1.0 of ReSurveyEurope contains 283,135 observations (i.e., individual surveys of each plot) from 79,190 plots sampled in 449 independent resurvey projects. Of these, 62,139 (78%) are permanent plots, that is, marked in situ, or located with GPS, which allow for high spatial accuracy in resurvey. The remaining 17,051 (22%) plots are from studies in which plots from the initial survey could not be exactly relocated. Four data sets, which together account for 28,470 (36%) plots, provide only presence/absence information on plant species, while the remaining 50,720 (64%) plots contain abundance information (e.g., percentage cover or cover–abundance classes such as variants of the Braun-Blanquet scale). The oldest plots were sampled in 1911 in the Swiss Alps, while most plots were sampled between 1950 and 2020. Conclusions ReSurveyEurope is a new resource to address a wide range of research questions on fine-scale changes in European vegetation. The initiative is devoted to an inclusive and transparent governance and data usage approach, based on slightly adapted rules of the well-established European Vegetation Archive (EVA). ReSurveyEurope data are ready for use, and proposals for analyses of the data set can be submitted at any time to the coordinators. Still, further data contributions are highly welcome.
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- 2024
7. Global patterns and environmental drivers of forest functional composition
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Bouchard, Elise, Searle, Eric B., Drapeau, Pierre, Liang, Jingjing, Gamarra, Javier Garcia Perez, Abegg, Meinrad, Alberti, Giorgio, Zambrano, Angelica Almeyda, Alvarez-Davila, Esteban, Alves, Luciana F., Avitabile, Valerio, Aymard, Gerardo A., Bastin, Jean-François, Birnbaum, Philippe, Bongers, Frans, Bouriaud, Olivier, Brancalion, Pedro H.S., Broadbent, Eben North, Bussotti, Filippo, Cazzolla Gatti, Roberto, Cesljar, Goran, Chisholm, Chelsea, Cienciala, Emil, Clark, Connie J., Corral-Rivas, José Javier, Crowther, Thomas W., Dayanandan, Selvadurai, Decuyper, Mathieu, De Gasper, André Luis, De Miguel, Sergio, Derroire, Géraldine, DeVries, Ben, Djordjevic, Ilija, Van Do, Tran, Dolezal, Jiri, Fayle, Tom M., Fridman, Jonas K., Frizzera, Lorenzo, Gianelle, Damiano, Hemp, Andreas, Herault, Bruno, Herold, Martin, Imai, Nobuo, Jagodzinski, Andrzej M., Jaroszewicz, Bogdan, Jucker, Tommaso, Kepfer-Rojas, Sebastian, Keppel, Gunnar, Latif Khan, Mohammed, Seok Kim, Hyun, Korjus, Henn, Kraxner, Florian, Laarmann, Diana, Lewis, Simon L., Lu, Huicui, Maitner, Brian S., Marcon, Eric, Marshall, Andrew R., Mukul, Sharif A., Nabuurs, Gert-Jan, Nava-Miranda, Maria Guadalupe, Parfenova, Elena I., Park, Minjee, Peri, Pablo Luis, Pfautsch, Sebastian, Phillips, Oliver L., Piedade, Maria Teresa F., Piotto, Daniel, Poulsen, John R., Poulsen, Axel Dalberg, Pretzsch, Hans, Reich, Peter B., Rodeghiero, Mirco, Rolim, Samir, Rovero, Francesco, Saikia, Purabi, Salas-Eljatib, Christian, Schall, Peter, Schepaschenko, Dmitry, Schöngart, Jochen, Seben, Vladimir, Sist, Plinio, et al., Bouchard, Elise, Searle, Eric B., Drapeau, Pierre, Liang, Jingjing, Gamarra, Javier Garcia Perez, Abegg, Meinrad, Alberti, Giorgio, Zambrano, Angelica Almeyda, Alvarez-Davila, Esteban, Alves, Luciana F., Avitabile, Valerio, Aymard, Gerardo A., Bastin, Jean-François, Birnbaum, Philippe, Bongers, Frans, Bouriaud, Olivier, Brancalion, Pedro H.S., Broadbent, Eben North, Bussotti, Filippo, Cazzolla Gatti, Roberto, Cesljar, Goran, Chisholm, Chelsea, Cienciala, Emil, Clark, Connie J., Corral-Rivas, José Javier, Crowther, Thomas W., Dayanandan, Selvadurai, Decuyper, Mathieu, De Gasper, André Luis, De Miguel, Sergio, Derroire, Géraldine, DeVries, Ben, Djordjevic, Ilija, Van Do, Tran, Dolezal, Jiri, Fayle, Tom M., Fridman, Jonas K., Frizzera, Lorenzo, Gianelle, Damiano, Hemp, Andreas, Herault, Bruno, Herold, Martin, Imai, Nobuo, Jagodzinski, Andrzej M., Jaroszewicz, Bogdan, Jucker, Tommaso, Kepfer-Rojas, Sebastian, Keppel, Gunnar, Latif Khan, Mohammed, Seok Kim, Hyun, Korjus, Henn, Kraxner, Florian, Laarmann, Diana, Lewis, Simon L., Lu, Huicui, Maitner, Brian S., Marcon, Eric, Marshall, Andrew R., Mukul, Sharif A., Nabuurs, Gert-Jan, Nava-Miranda, Maria Guadalupe, Parfenova, Elena I., Park, Minjee, Peri, Pablo Luis, Pfautsch, Sebastian, Phillips, Oliver L., Piedade, Maria Teresa F., Piotto, Daniel, Poulsen, John R., Poulsen, Axel Dalberg, Pretzsch, Hans, Reich, Peter B., Rodeghiero, Mirco, Rolim, Samir, Rovero, Francesco, Saikia, Purabi, Salas-Eljatib, Christian, Schall, Peter, Schepaschenko, Dmitry, Schöngart, Jochen, Seben, Vladimir, Sist, Plinio, and et al.
- Abstract
Aim: To determine the relationships between the functional trait composition of forest communities and environmental gradients across scales and biomes and the role of species relative abundances in these relationships. Location: Global. Time period: Recent. Major taxa studied: Trees. Methods: We integrated species abundance records from worldwide forest inventories and associated functional traits (wood density, specific leaf area and seed mass) to obtain a data set of 99,953 to 149,285 plots (depending on the trait) spanning all forested continents. We computed community-weighted and unweighted means of trait values for each plot and related them to three broad environmental gradients and their interactions (energy availability, precipitation and soil properties) at two scales (global and biomes). Results: Our models explained up to 60% of the variance in trait distribution. At global scale, the energy gradient had the strongest influence on traits. However, within-biome models revealed different relationships among biomes. Notably, the functional composition of tropical forests was more influenced by precipitation and soil properties than energy availability, whereas temperate forests showed the opposite pattern. Depending on the trait studied, response to gradients was more variable and proportionally weaker in boreal forests. Community unweighted means were better predicted than weighted means for almost all models. Main conclusions: Worldwide, trees require a large amount of energy (following latitude) to produce dense wood and seeds, while leaves with large surface to weight ratios are concentrated in temperate forests. However, patterns of functional composition within-biome differ from global patterns due to biome specificities such as the presence of conifers or unique combinations of climatic and soil properties. We recommend assessing the sensitivity of tree functional traits to environmental changes in their geographic context. Furthermore, at a given s
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- 2024
8. The genome and population genomics of allopolyploid Coffea arabica reveal the diversification history of modern coffee cultivars
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Salojärvi, Jarkko, Rambani, Aditi, Yu, Zhe, Guyot, Romain, Strickler, Susan R., Lepelley, Maud, Wang, Cui, Rajaraman, Sitaram, Rastas, Pasi, Zheng, Chunfang, Santos Muñoz, Daniella, Meidanis, João, Rossi Paschoal, Alexandre, Bawin, Yves, Krabbenhoft, Trevor J., Wang, Zhen Qin, Fleck, Steven J., Aussel, Rudy, Bellanger, Laurence, Charpagne, Aline, Fournier, Coralie, Kassam, Mohamed, Lefebvre, Gregory, Métairon, Sylviane, Descombes, Patrick, Rigoreau, Michel, Stolte, Jens, Hamon, Perla, Couturon, Emmanuel, Tranchant-Dubreuil, Christine, Mukherjee, Minakshi, Lan, Tianying, Engelhardt, Jan, Stadler, Peter, De Lemos, Samara Mireza Correia, Ivamoto Suzuki, Suzana, Sumirat, Ucu, Wai, Ching Man, Dauchot, Nicolas, Orozco-Arias, Simon, Garavito, Giovanny, Kiwuka, Catherine, Musoli, Pascal, Nalukenge, Anne, Guichoux, Erwan, Reinout, Havinga, Smit, Martin, Carretero-Paulet, Lorenzo, Guerreiro Filho, Oliveiro, Toma Braghini, Masako, Padilha, Lilian, Hiroshi Sera, Gustavo, Ruttink, Tom, Henry, Robert, Marraccini, Pierre, et al., Salojärvi, Jarkko, Rambani, Aditi, Yu, Zhe, Guyot, Romain, Strickler, Susan R., Lepelley, Maud, Wang, Cui, Rajaraman, Sitaram, Rastas, Pasi, Zheng, Chunfang, Santos Muñoz, Daniella, Meidanis, João, Rossi Paschoal, Alexandre, Bawin, Yves, Krabbenhoft, Trevor J., Wang, Zhen Qin, Fleck, Steven J., Aussel, Rudy, Bellanger, Laurence, Charpagne, Aline, Fournier, Coralie, Kassam, Mohamed, Lefebvre, Gregory, Métairon, Sylviane, Descombes, Patrick, Rigoreau, Michel, Stolte, Jens, Hamon, Perla, Couturon, Emmanuel, Tranchant-Dubreuil, Christine, Mukherjee, Minakshi, Lan, Tianying, Engelhardt, Jan, Stadler, Peter, De Lemos, Samara Mireza Correia, Ivamoto Suzuki, Suzana, Sumirat, Ucu, Wai, Ching Man, Dauchot, Nicolas, Orozco-Arias, Simon, Garavito, Giovanny, Kiwuka, Catherine, Musoli, Pascal, Nalukenge, Anne, Guichoux, Erwan, Reinout, Havinga, Smit, Martin, Carretero-Paulet, Lorenzo, Guerreiro Filho, Oliveiro, Toma Braghini, Masako, Padilha, Lilian, Hiroshi Sera, Gustavo, Ruttink, Tom, Henry, Robert, Marraccini, Pierre, and et al.
- Abstract
Coffea arabica, an allotetraploid hybrid of Coffea eugenioides and Coffea canephora, is the source of approximately 60% of coffee products worldwide, and its cultivated accessions have undergone several population bottlenecks. We present chromosome-level assemblies of a di-haploid C. arabica accession and modern representatives of its diploid progenitors, C. eugenioides and C. canephora. The three species exhibit largely conserved genome structures between diploid parents and descendant subgenomes, with no obvious global subgenome dominance. We find evidence for a founding polyploidy event 350,000–610,000 years ago, followed by several pre-domestication bottlenecks, resulting in narrow genetic variation. A split between wild accessions and cultivar progenitors occurred ~30.5 thousand years ago, followed by a period of migration between the two populations. Analysis of modern varieties, including lines historically introgressed with C. canephora, highlights their breeding histories and loci that may contribute to pathogen resistance, laying the groundwork for future genomics-based breeding of C. arabica.
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- 2024
9. Effects of plant diversity on productivity strengthen over time due to trait-dependent shifts in species overyielding
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Zheng, Liting, Barry, Kathryn E., Guerrero-Ramírez, Nathaly R., Craven, Dylan, Reich, Peter B., Verheyen, Kris, Scherer-Lorenzen, Michael, Eisenhauer, Nico, Barsoum, Nadia, Bauhus, Jürgen, Bruelheide, Helge, Cavender-Bares, Jeannine, Dolezal, Jiri, Auge, Harald, Fagundes, Marina V., Ferlian, Olga, Fiedler, Sebastian, Forrester, David I., Ganade, Gislene, Gebauer, Tobias, Haase, Josephine, Hajek, Peter, Hector, Andy, Herault, Bruno, et al., Zheng, Liting, Barry, Kathryn E., Guerrero-Ramírez, Nathaly R., Craven, Dylan, Reich, Peter B., Verheyen, Kris, Scherer-Lorenzen, Michael, Eisenhauer, Nico, Barsoum, Nadia, Bauhus, Jürgen, Bruelheide, Helge, Cavender-Bares, Jeannine, Dolezal, Jiri, Auge, Harald, Fagundes, Marina V., Ferlian, Olga, Fiedler, Sebastian, Forrester, David I., Ganade, Gislene, Gebauer, Tobias, Haase, Josephine, Hajek, Peter, Hector, Andy, Herault, Bruno, and et al.
- Abstract
Plant diversity effects on community productivity often increase over time. Whether the strengthening of diversity effects is caused by temporal shifts in species-level overyielding (i.e., higher species-level productivity in diverse communities compared with monocultures) remains unclear. Here, using data from 65 grassland and forest biodiversity experiments, we show that the temporal strength of diversity effects at the community scale is underpinned by temporal changes in the species that yield. These temporal trends of species-level overyielding are shaped by plant ecological strategies, which can be quantitatively delimited by functional traits. In grasslands, the temporal strengthening of biodiversity effects on community productivity was associated with increasing biomass overyielding of resource-conservative species increasing over time, and with overyielding of species characterized by fast resource acquisition either decreasing or increasing. In forests, temporal trends in species overyielding differ when considering above- versus belowground resource acquisition strategies. Overyielding in stem growth decreased for species with high light capture capacity but increased for those with high soil resource acquisition capacity. Our results imply that a diversity of species with different, and potentially complementary, ecological strategies is beneficial for maintaining community productivity over time in both grassland and forest ecosystems.
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- 2024
10. Reading tea leaves worldwide: Decoupled drivers of initial litter decomposition mass-loss rate and stabilization
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Sarneel, J.M., Hefting, M.M., Sandén, T., van den Hoogen, J., Routh, D., Adhikari, B.S., Alatalo, J.M., Aleksanyan, A., Althuizen, I.H.J., Rebmann, Corinna, Scheffers, B.R., Schmidt, I., et al., Sarneel, J.M., Hefting, M.M., Sandén, T., van den Hoogen, J., Routh, D., Adhikari, B.S., Alatalo, J.M., Aleksanyan, A., Althuizen, I.H.J., Rebmann, Corinna, Scheffers, B.R., and Schmidt, I., et al.
- Abstract
The breakdown of plant material fuels soil functioning and biodiversity. Currently, process understanding of global decomposition patterns and the drivers of such patterns are hampered by the lack of coherent large-scale datasets. We buried 36,000 individual litterbags (tea bags) worldwide and found an overall negative correlation between initial mass-loss rates and stabilization factors of plant-derived carbon, using the Tea Bag Index (TBI). The stabilization factor quantifies the degree to which easy-to-degrade components accumulate during early-stage decomposition (e.g. by environmental limitations). However, agriculture and an interaction between moisture and temperature led to a decoupling between initial mass-loss rates and stabilization, notably in colder locations. Using TBI improved mass-loss estimates of natural litter compared to models that ignored stabilization. Ignoring the transformation of dead plant material to more recalcitrant substances during early-stage decomposition, and the environmental control of this transformation, could overestimate carbon losses during early decomposition in carbon cycle models.
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- 2024
11. Alternative consent methods used in the multinational, pragmatic, randomised clinical trial SafeBoosC-III
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Vestager, Maria Linander; https://orcid.org/0000-0002-3273-0791, Hansen, Mathias Lühr; https://orcid.org/0000-0003-1957-7005, Greisen, Gorm, Pellicer, Adelina, Chathasaigh, Caitriona Ni, Lecart, Chantal, Knoepfli, Claudia, Hagmann, Cornelia; https://orcid.org/0000-0003-2647-9809, Gallo, Dario, Ergenekon, Ebru, Hatzidaki, Eleftheria, Dempsey, Eugene, Papathoma, Evangelina, Dimitrou, Gabriel, Pichler, Gerhard; https://orcid.org/0000-0003-2405-7143, Hahn, Gitte Holst, Naulaers, Gunnar, Fuchs, Hans; https://orcid.org/0000-0003-1303-3699, Ozkan, Hilal, de las Cuevas, Isabel, Serrano-Viñuales, Itziar, Sirc, Jan, de Buyst, Julie, Sarafidis, Kosmos, Arrusa, Luis, Baserga, Mariana, Stocker, Martin; https://orcid.org/0000-0002-1461-333X, Cetinkaya, Merih, Alsina-Casanova, Miguel; https://orcid.org/0000-0002-0139-7279, Fumagalli, Monica, et al, Vestager, Maria Linander; https://orcid.org/0000-0002-3273-0791, Hansen, Mathias Lühr; https://orcid.org/0000-0003-1957-7005, Greisen, Gorm, Pellicer, Adelina, Chathasaigh, Caitriona Ni, Lecart, Chantal, Knoepfli, Claudia, Hagmann, Cornelia; https://orcid.org/0000-0003-2647-9809, Gallo, Dario, Ergenekon, Ebru, Hatzidaki, Eleftheria, Dempsey, Eugene, Papathoma, Evangelina, Dimitrou, Gabriel, Pichler, Gerhard; https://orcid.org/0000-0003-2405-7143, Hahn, Gitte Holst, Naulaers, Gunnar, Fuchs, Hans; https://orcid.org/0000-0003-1303-3699, Ozkan, Hilal, de las Cuevas, Isabel, Serrano-Viñuales, Itziar, Sirc, Jan, de Buyst, Julie, Sarafidis, Kosmos, Arrusa, Luis, Baserga, Mariana, Stocker, Martin; https://orcid.org/0000-0002-1461-333X, Cetinkaya, Merih, Alsina-Casanova, Miguel; https://orcid.org/0000-0002-0139-7279, Fumagalli, Monica, and et al
- Abstract
Background The process of obtaining prior informed consent for experimental treatment does not fit well into the clinical reality of acute and intensive care. The therapeutic window of interventions is often short, which may reduce the validity of the consent and the rate of enrolled participants, to delay trial completion and reduce the external validity of the results. Deferred consent and ‘opt-out’ are alternative consent methods. The SafeBoosC-III trial was a randomised clinical trial investigating the benefits and harms of cerebral oximetry monitoring in extremely preterm infants during the first 3 days after birth, starting within the first 6 h after birth. Prior, deferred and opt-out consent were all allowed by protocol. This study aimed to evaluate the use of different consent methods in the SafeBoosC-III trial, Furthermore, we aimed to describe and analyse concerns or complaints that arose during the first 6 months of trial conduct. Methods All 70 principal investigators were invited to join this descriptive ancillary study. Each principal investigator received a questionnaire on the use of consent methods in their centre during the SafeBoosC-III trial, including the possibility to describe any concerns related to the consent methods used during the first 6 months of the trial, as raised by the parents or the clinical staff. Results Data from 61 centres were available. In 43 centres, only prior informed consent was used: in seven, only deferred consent. No centres used the opt-out method only, but five centres used prior and deferred, five used prior, deferred and opt-out (all possibilities) and one used both deferred and opt-out. Six centres applied to use the opt-out method by their local research ethics committee but were denied using it. One centre applied to use deferred consent but was denied. There were only 23 registered concerns during the execution of the trial. Conclusions Consent by opt-out was allowed by the protocol in this multinational trial
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- 2024
12. Implementation of health-related quality of life in the German TraumaRegister DGU® - first results of a pilot study
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Jaekel, Carina, Nienaber, Ulrike, Neubert, Anne, Kamp, Oliver; https://orcid.org/0000-0001-7593-4471, Wienhöfer, Lisa, Nohl, André; https://orcid.org/0000-0002-5106-4894, Maegele, Marc, Duesing, Helena, Erichsen, Christoph J, Frenzel, Stephan, Lefering, Rolf; https://orcid.org/0000-0002-0141-1747, Flohe, Sascha, Bieler, Dan; https://orcid.org/0000-0002-0708-1259, Heining, Sandro, et al, Jaekel, Carina, Nienaber, Ulrike, Neubert, Anne, Kamp, Oliver; https://orcid.org/0000-0001-7593-4471, Wienhöfer, Lisa, Nohl, André; https://orcid.org/0000-0002-5106-4894, Maegele, Marc, Duesing, Helena, Erichsen, Christoph J, Frenzel, Stephan, Lefering, Rolf; https://orcid.org/0000-0002-0141-1747, Flohe, Sascha, Bieler, Dan; https://orcid.org/0000-0002-0708-1259, Heining, Sandro, and et al
- Abstract
BACKGROUND Approximately 30,000 people are affected by severe injuries in Germany each year. Continuous progress in prehospital and hospital care has significantly reduced the mortality of polytrauma patients. With increasing survival rates, the functional outcome, health-related quality (hrQoL) of life and ability to work are now gaining importance. Aim of the study is, the presentation of the response behavior of seriously injured patients on the one hand and the examination of the factors influencing the quality of life and ability to work 12 months after major trauma on the other hand. Building on these initial results, a standard outcome tool shall be integrated in the established TraumaRegister DGU® in the future. METHODS In 2018, patients [Injury Severity Score (ISS) ≥ 16; age:18-75 years] underwent multicenter one-year posttraumatic follow-up in six study hospitals. In addition to assessing hrQoL by using the Short-Form Health Survey (SF-12), five additional questions (treatment satisfaction; ability to work; trauma-related medical treatment; relevant physical disability, hrQoL as compared with the prior to injury status) were applied. RESULTS Of the 1,162 patients contacted, 594 responded and were included in the analysis. The post-injury hrQoL does not show statistically significant differences between the sexes. Regarding age, however, the younger the patient at injury, the better the SF-12 physical sum score. Furthermore, the physically perceived quality of life decreases statistically significantly in relation to the severity of the trauma as measured by the ISS, whereas the mentally perceived quality of life shows no differences in terms of injury severity. A large proportion of severely injured patients were very satisfied (42.2%) or satisfied (39.9%) with the treatment outcome. It should be emphasized that patients with a high injury severity (ISS > 50) were on average more often very satisfied with the treatment outcome (46.7%). A total of 429 patie
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- 2024
13. The outcomes measured and reported in intracranial meningioma clinical trials: A systematic review
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Millward, Christopher P; https://orcid.org/0000-0001-7727-1157, Keshwara, Sumirat M, Armstrong, Terri S; https://orcid.org/0000-0002-2414-0492, Barrington, Heather; https://orcid.org/0000-0001-9103-2670, Bell, Sabrina, Brodbelt, Andrew R, Bulbeck, Helen, Dirven, Linda; https://orcid.org/0000-0001-9157-9895, Grundy, Paul L, Islim, Abdurrahman I, Javadpour, Mohsen, Koszdin, Shelli D, Marson, Anthony G, McDermott, Michael W, Meling, Torstein R, Oliver, Kathy, Plaha, Puneet, Preusser, Matthias; https://orcid.org/0000-0003-3541-2315, Santarius, Thomas, Srikandarajah, Nisaharan; https://orcid.org/0000-0001-9578-508X, Taphoorn, Martin J B; https://orcid.org/0000-0001-9949-4722, Turner, Carole, Watts, Colin; https://orcid.org/0000-0003-3531-8791, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Williamson, Paula R, Zadeh, Gelareh; https://orcid.org/0000-0002-6637-4502, Zamanipoor Najafabadi, Amir H, Jenkinson, Michael D, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, et al, Millward, Christopher P; https://orcid.org/0000-0001-7727-1157, Keshwara, Sumirat M, Armstrong, Terri S; https://orcid.org/0000-0002-2414-0492, Barrington, Heather; https://orcid.org/0000-0001-9103-2670, Bell, Sabrina, Brodbelt, Andrew R, Bulbeck, Helen, Dirven, Linda; https://orcid.org/0000-0001-9157-9895, Grundy, Paul L, Islim, Abdurrahman I, Javadpour, Mohsen, Koszdin, Shelli D, Marson, Anthony G, McDermott, Michael W, Meling, Torstein R, Oliver, Kathy, Plaha, Puneet, Preusser, Matthias; https://orcid.org/0000-0003-3541-2315, Santarius, Thomas, Srikandarajah, Nisaharan; https://orcid.org/0000-0001-9578-508X, Taphoorn, Martin J B; https://orcid.org/0000-0001-9949-4722, Turner, Carole, Watts, Colin; https://orcid.org/0000-0003-3531-8791, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Williamson, Paula R, Zadeh, Gelareh; https://orcid.org/0000-0002-6637-4502, Zamanipoor Najafabadi, Amir H, Jenkinson, Michael D, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, and et al
- Abstract
Background Meningioma clinical trials have assessed interventions including surgery, radiotherapy, and pharmacotherapy. However, agreement does not exist on what, how, and when outcomes of interest should be measured. To do so would allow comparative analysis of similar trials. This systematic review aimed to summarize the outcomes measured and reported in meningioma clinical trials. Methods Systematic literature and trial registry searches were performed to identify published and ongoing intracranial meningioma clinical trials (PubMed, Embase, Medline, CINAHL via EBSCO, and Web of Science, completed January 22, 2022). Reported outcomes were extracted verbatim, along with an associated definition and method of measurement if provided. Verbatim outcomes were deduplicated and the resulting unique outcomes were grouped under standardized outcome terms. These were classified using the taxonomy proposed by the “Core Outcome Measures in Effectiveness Trials” (COMET) initiative. Results Thirty published articles and 18 ongoing studies were included, describing 47 unique clinical trials: Phase 2 n = 33, phase 3 n = 14. Common interventions included: Surgery n = 13, radiotherapy n = 8, and pharmacotherapy n = 20. In total, 659 verbatim outcomes were reported, of which 84 were defined. Following de-duplication, 415 unique verbatim outcomes remained and were grouped into 115 standardized outcome terms. These were classified using the COMET taxonomy into 29 outcome domains and 5 core areas. Conclusions Outcome measurement across meningioma clinical trials is heterogeneous. The standardized outcome terms identified will be prioritized through an eDelphi survey and consensus meeting of key stakeholders (including patients), in order to develop a core outcome set for use in future meningioma clinical trials.
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- 2024
14. The extinct marine megafauna of the Phanerozoic
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Pimiento, Catalina; https://orcid.org/0000-0002-5320-7246, Kocáková, Kristína; https://orcid.org/0000-0002-2270-8435, Mathes, Gregor H; https://orcid.org/0000-0002-2788-1173, Argyriou, Thodoris; https://orcid.org/0000-0002-2036-5088, Cadena, Edwin-Alberto; https://orcid.org/0000-0003-3038-567X, Cooper, Jack A; https://orcid.org/0000-0003-2252-4983, Cortés, Dirley; https://orcid.org/0000-0001-9409-7429, Field, Daniel J; https://orcid.org/0000-0002-1786-0352, Klug, Christian; https://orcid.org/0000-0002-4099-7453, Scheyer, Torsten M; https://orcid.org/0000-0002-6301-8983, Valenzuela-Toro, Ana M; https://orcid.org/0000-0003-1497-364X, Buess, Timon, Günter, Meike, Gardiner, Amanda M; https://orcid.org/0009-0002-5518-1235, Hatt, Pascale; https://orcid.org/0009-0009-6088-2555, Holdener, Geraldine, Jacober, Giulia, Kobelt, Sabrina, Masseraz, Sheldon, Mehli, Ian, Reiff, Sarah, Rigendinger, Eva, Ruckstuhl, Mimo, Schneider, Santana, Seige, Clarissa, Senn, Nathalie, Staccoli, Valeria, Baumann, Jessica, Flüeler, Livio, Guevara, Lino J, et al, Pimiento, Catalina; https://orcid.org/0000-0002-5320-7246, Kocáková, Kristína; https://orcid.org/0000-0002-2270-8435, Mathes, Gregor H; https://orcid.org/0000-0002-2788-1173, Argyriou, Thodoris; https://orcid.org/0000-0002-2036-5088, Cadena, Edwin-Alberto; https://orcid.org/0000-0003-3038-567X, Cooper, Jack A; https://orcid.org/0000-0003-2252-4983, Cortés, Dirley; https://orcid.org/0000-0001-9409-7429, Field, Daniel J; https://orcid.org/0000-0002-1786-0352, Klug, Christian; https://orcid.org/0000-0002-4099-7453, Scheyer, Torsten M; https://orcid.org/0000-0002-6301-8983, Valenzuela-Toro, Ana M; https://orcid.org/0000-0003-1497-364X, Buess, Timon, Günter, Meike, Gardiner, Amanda M; https://orcid.org/0009-0002-5518-1235, Hatt, Pascale; https://orcid.org/0009-0009-6088-2555, Holdener, Geraldine, Jacober, Giulia, Kobelt, Sabrina, Masseraz, Sheldon, Mehli, Ian, Reiff, Sarah, Rigendinger, Eva, Ruckstuhl, Mimo, Schneider, Santana, Seige, Clarissa, Senn, Nathalie, Staccoli, Valeria, Baumann, Jessica, Flüeler, Livio, Guevara, Lino J, and et al
- Abstract
The modern marine megafauna is known to play important ecological roles and includes many charismatic species that have drawn the attention of both the scientific community and the public. However, the extinct marine megafauna has never been assessed as a whole, nor has it been defined in deep time. Here, we review the literature to define and list the species that constitute the extinct marine megafauna, and to explore biological and ecological patterns throughout the Phanerozoic. We propose a size cut-off of 1 m of length to define the extinct marine megafauna. Based on this definition, we list 706 taxa belonging to eight main groups. We found that the extinct marine megafauna was conspicuous over the Phanerozoic and ubiquitous across all geological eras and periods, with the Mesozoic, especially the Cretaceous, having the greatest number of taxa. Marine reptiles include the largest size recorded (21 m; Shonisaurus sikanniensis) and contain the highest number of extinct marine megafaunal taxa. This contrasts with today’s assemblage, where marine animals achieve sizes of >30 m. The extinct marine megafaunal taxa were found to be well-represented in the Paleobiology Database, but not better sampled than their smaller counterparts. Among the extinct marine megafauna, there appears to be an overall increase in body size through time. Most extinct megafaunal taxa were inferred to be macropredators preferentially living in coastal environments. Across the Phanerozoic, megafaunal species had similar extinction risks as smaller species, in stark contrast to modern oceans where the large species are most affected by human perturbations. Our work represents a first step towards a better understanding of the marine megafauna that lived in the geological past. However, more work is required to expand our list of taxa and their traits so that we can obtain a more complete picture of their ecology and evolution.
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- 2024
15. A prognostic neural epigenetic signature in high-grade glioma
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Drexler, Richard, Khatri, Robin; https://orcid.org/0009-0006-5311-1718, Sauvigny, Thomas, Mohme, Malte; https://orcid.org/0000-0003-0627-9092, Maire, Cecile L, Ryba, Alice, Zghaibeh, Yahya, Dührsen, Lasse, Salviano-Silva, Amanda; https://orcid.org/0000-0003-2741-7028, Lamszus, Katrin, Westphal, Manfred, Gempt, Jens, Wefers, Annika K; https://orcid.org/0000-0001-9394-8519, Neumann, Julia E; https://orcid.org/0000-0002-1162-8771, Bode, Helena, Hausmann, Fabian; https://orcid.org/0000-0001-6110-5824, Huber, Tobias B; https://orcid.org/0000-0001-7175-5062, Bonn, Stefan; https://orcid.org/0000-0003-4366-5662, Jütten, Kerstin, Delev, Daniel, Weber, Katharina J, Harter, Patrick N, Onken, Julia, Vajkoczy, Peter, Capper, David; https://orcid.org/0000-0003-1945-497X, Wiestler, Benedikt; https://orcid.org/0000-0002-2963-7772, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Snijder, Berend; https://orcid.org/0000-0003-3386-6583, Buck, Alicia; https://orcid.org/0000-0001-9922-4474, Weiss, Tobias; https://orcid.org/0000-0002-5533-9429, et al, Drexler, Richard, Khatri, Robin; https://orcid.org/0009-0006-5311-1718, Sauvigny, Thomas, Mohme, Malte; https://orcid.org/0000-0003-0627-9092, Maire, Cecile L, Ryba, Alice, Zghaibeh, Yahya, Dührsen, Lasse, Salviano-Silva, Amanda; https://orcid.org/0000-0003-2741-7028, Lamszus, Katrin, Westphal, Manfred, Gempt, Jens, Wefers, Annika K; https://orcid.org/0000-0001-9394-8519, Neumann, Julia E; https://orcid.org/0000-0002-1162-8771, Bode, Helena, Hausmann, Fabian; https://orcid.org/0000-0001-6110-5824, Huber, Tobias B; https://orcid.org/0000-0001-7175-5062, Bonn, Stefan; https://orcid.org/0000-0003-4366-5662, Jütten, Kerstin, Delev, Daniel, Weber, Katharina J, Harter, Patrick N, Onken, Julia, Vajkoczy, Peter, Capper, David; https://orcid.org/0000-0003-1945-497X, Wiestler, Benedikt; https://orcid.org/0000-0002-2963-7772, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Snijder, Berend; https://orcid.org/0000-0003-3386-6583, Buck, Alicia; https://orcid.org/0000-0001-9922-4474, Weiss, Tobias; https://orcid.org/0000-0002-5533-9429, and et al
- Abstract
Neural-tumor interactions drive glioma growth as evidenced in preclinical models, but clinical validation is limited. We present an epigenetically defined neural signature of glioblastoma that independently predicts patients' survival. We use reference signatures of neural cells to deconvolve tumor DNA and classify samples into low- or high-neural tumors. High-neural glioblastomas exhibit hypomethylated CpG sites and upregulation of genes associated with synaptic integration. Single-cell transcriptomic analysis reveals a high abundance of malignant stemcell-like cells in high-neural glioblastoma, primarily of the neural lineage. These cells are further classified as neural-progenitor-cell-like, astrocyte-like and oligodendrocyte-progenitor-like, alongside oligodendrocytes and excitatory neurons. In line with these findings, high-neural glioblastoma cells engender neuron-to-glioma synapse formation in vitro and in vivo and show an unfavorable survival after xenografting. In patients, a high-neural signature is associated with decreased overall and progression-free survival. High-neural tumors also exhibit increased functional connectivity in magnetencephalography and resting-state magnet resonance imaging and can be detected via DNA analytes and brain-derived neurotrophic factor in patients' plasma. The prognostic importance of the neural signature was further validated in patients diagnosed with diffuse midline glioma. Our study presents an epigenetically defined malignant neural signature in high-grade gliomas that is prognostically relevant. High-neural gliomas likely require a maximized surgical resection approach for improved outcomes.
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- 2024
16. The outcomes measured and reported in observational studies of incidental and untreated intracranial meningioma: A systematic review
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Millward, Christopher P; https://orcid.org/0000-0001-7727-1157, Islim, Abdurrahman I, Armstrong, Terri S; https://orcid.org/0000-0002-2414-0492, Barrington, Heather; https://orcid.org/0000-0001-9103-2670, Bell, Sabrina, Brodbelt, Andrew R, Bulbeck, Helen, Dirven, Linda; https://orcid.org/0000-0001-9157-9895, Grundy, Paul L, Javadpour, Mohsen, Keshwara, Sumirat M, Koszdin, Shelli D, Marson, Anthony G, McDermott, Michael W, Meling, Torstein R, Oliver, Kathy, Plaha, Puneet, Preusser, Matthias; https://orcid.org/0000-0003-3541-2315, Santarius, Thomas, Srikandarajah, Nisaharan; https://orcid.org/0000-0001-9578-508X, Taphoorn, Martin J B; https://orcid.org/0000-0001-9949-4722, Turner, Carole, Watts, Colin; https://orcid.org/0000-0003-3531-8791, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Williamson, Paula R, Zadeh, Gelareh; https://orcid.org/0000-0002-6637-4502, Zamanipoor Najafabadi, Amir H, Jenkinson, Michael D, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, et al, Millward, Christopher P; https://orcid.org/0000-0001-7727-1157, Islim, Abdurrahman I, Armstrong, Terri S; https://orcid.org/0000-0002-2414-0492, Barrington, Heather; https://orcid.org/0000-0001-9103-2670, Bell, Sabrina, Brodbelt, Andrew R, Bulbeck, Helen, Dirven, Linda; https://orcid.org/0000-0001-9157-9895, Grundy, Paul L, Javadpour, Mohsen, Keshwara, Sumirat M, Koszdin, Shelli D, Marson, Anthony G, McDermott, Michael W, Meling, Torstein R, Oliver, Kathy, Plaha, Puneet, Preusser, Matthias; https://orcid.org/0000-0003-3541-2315, Santarius, Thomas, Srikandarajah, Nisaharan; https://orcid.org/0000-0001-9578-508X, Taphoorn, Martin J B; https://orcid.org/0000-0001-9949-4722, Turner, Carole, Watts, Colin; https://orcid.org/0000-0003-3531-8791, Weller, Michael; https://orcid.org/0000-0002-1748-174X, Williamson, Paula R, Zadeh, Gelareh; https://orcid.org/0000-0002-6637-4502, Zamanipoor Najafabadi, Amir H, Jenkinson, Michael D, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, and et al
- Abstract
Background The clinical management of patients with incidental intracranial meningioma varies markedly and is often based on clinician choice and observational data. Heterogeneous outcome measurement has likely hampered knowledge progress by preventing comparative analysis of similar cohorts of patients. This systematic review aimed to summarize the outcomes measured and reported in observational studies. Methods A systematic literature search was performed to identify published full texts describing active monitoring of adult cohorts with incidental and untreated intracranial meningioma (PubMed, EMBASE, MEDLINE, and CINAHL via EBSCO, completed January 24, 2022). Reported outcomes were extracted verbatim, along with an associated definition and method of measurement if provided. Verbatim outcomes were de-duplicated and the resulting unique outcomes were grouped under standardized outcome terms. These were classified using the taxonomy proposed by the “Core Outcome Measures in Effectiveness Trials” (COMET) initiative. Results Thirty-three published articles and 1 ongoing study were included describing 32 unique studies: study designs were retrospective n = 27 and prospective n = 5. In total, 268 verbatim outcomes were reported, of which 77 were defined. Following de-duplication, 178 unique verbatim outcomes remained and were grouped into 53 standardized outcome terms. These were classified using the COMET taxonomy into 9 outcome domains and 3 core areas. Conclusions Outcome measurement across observational studies of incidental and untreated intracranial meningioma is heterogeneous. The standardized outcome terms identified will be prioritized through an eDelphi survey and consensus meeting of key stakeholders (including patients), in order to develop a Core Outcome Set for use in future observational studies.
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- 2024
17. The Prognostic Role of Preoperative PSMA PET/CT in cN0M0 pN+ Prostate Cancer: A Multicenter Study
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Marra, Giancarlo, Rajwa, Pawel, Filippini, Claudia, Ploussard, Guillaume, Montefusco, Gabriele, Puche-Sanz, Ignacio, Olivier, Jonathan, Zattoni, Fabio, Moro, Fabrizio Dal, Magli, Alessandro, Dariane, Charles, Affentranger, Andres, Grogg, Josias Bastian, Hermanns, Thomas, Chiu, Peter K, Malkiewicz, Bartosz, Kowalczyk, Kamil, Van den Bergh, Roderick C N, Shariat, Shahrokh F, Bianchi, Alberto, Antonelli, Alessandro, Gallina, Sebastian, Berchiche, William, Sanchez-Salas, Rafael, Cathelineau, Xavier, Afferi, Luca, Fankhauser, Christian Daniel, Mattei, Agostino, Karnes, Robert Jeffrey, Scuderi, Simone, et al, Marra, Giancarlo, Rajwa, Pawel, Filippini, Claudia, Ploussard, Guillaume, Montefusco, Gabriele, Puche-Sanz, Ignacio, Olivier, Jonathan, Zattoni, Fabio, Moro, Fabrizio Dal, Magli, Alessandro, Dariane, Charles, Affentranger, Andres, Grogg, Josias Bastian, Hermanns, Thomas, Chiu, Peter K, Malkiewicz, Bartosz, Kowalczyk, Kamil, Van den Bergh, Roderick C N, Shariat, Shahrokh F, Bianchi, Alberto, Antonelli, Alessandro, Gallina, Sebastian, Berchiche, William, Sanchez-Salas, Rafael, Cathelineau, Xavier, Afferi, Luca, Fankhauser, Christian Daniel, Mattei, Agostino, Karnes, Robert Jeffrey, Scuderi, Simone, and et al
- Abstract
CONTEXT: Despite negative preoperative conventional imaging, up to 10% of patients with prostate cancer (PCa) harbor lymph-node involvement (LNI) at radical prostatectomy (RP). The advent of more accurate imaging modalities such as PET/CT improved the detection of LNI. However, their clinical impact and prognostic value are still unclear. We aimed to investigate the prognostic value of preoperative PET/CT in patients node positive (pN+) at RP. EVIDENCE SYNTHESIS: We retrospectively identified cN0M0 patients at conventional imaging (CT and/or MRI, and bone scan) who had pN+ PCa at RP at 17 referral centers. Patients with cN+ at PSMA/Choline PET/CT but cN0M0 at conventional imaging were also included. Systemic progression/recurrence was the primary outcome; Cox proportional hazards models were used for multivariate analysis. EVIDENCE ACQUISITION: We included 1163 pN+ men out of whom 95 and 100 had preoperative PSMA and/or Choline PET/CT, respectively. ISUP grade ≥4 was detected in 66.6%. Overall, 42% of patients had postoperative PSA persistence (≥0.1 ng/mL). Postoperative management included initial observation (34%), ADT (22.7%) and adjuvant RT+/-ADT (42.8%). Median follow-up was 42 months. Patients with cN+ on PSMA PET/CT had an increased risk of systemic progression (52.9% vs. 13.6% cN0 PSMA PET/CT vs. 21.5% cN0 at conventional imaging; P < .01). This held true at multivariable analysis: (HR 6.184, 95% CI: 3.386-11-295; P < .001) whilst no significant results were highlighted for Choline PET/CT. No significant associations for both PET types were found for local progression, BCR, and overall mortality (all P > .05). Observation as an initial management strategy instead of adjuvant treatments was related with an increased risk of metastases (HR 1.808; 95% CI: 1.069-3.058; P < .05). CONCLUSIONS: PSMA PET/CT cN+ patients with negative conventional imaging have an increased risk of systemic progression after RP compared to their counterparts with cN0M0 disease both at
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- 2024
18. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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Bassani, Sissy; https://orcid.org/0000-0001-6800-8584, Chrast, Jacqueline, Ambrosini, Giovanna, Voisin, Norine, Schütz, Frédéric, Brusco, Alfredo; https://orcid.org/0000-0002-8318-7231, Sirchia, Fabio, Turban, Lydia, Schubert, Susanna, Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399, Schlump, Jan-Ulrich, DeMille, Desiree, Bayrak-Toydemir, Pinar, Nelson, Gary Rex, Wong, Kristen Nicole, Duncanson, Laura, Mosera, Mackenzie, Gilissen, Christian; https://orcid.org/0000-0003-1693-9699, Vissers, Lisenka E L M, Pfundt, Rolph, Kersseboom, Rogier, Yttervik, Hilde, Hansen, Geir Åsmund Myge, Smeland, Marie Falkenberg, Butler, Kameryn M, Lyons, Michael J, Carvalho, Claudia M B, Zhang, Chaofan, Lupski, James R, Potocki, Lorraine, et al, Bassani, Sissy; https://orcid.org/0000-0001-6800-8584, Chrast, Jacqueline, Ambrosini, Giovanna, Voisin, Norine, Schütz, Frédéric, Brusco, Alfredo; https://orcid.org/0000-0002-8318-7231, Sirchia, Fabio, Turban, Lydia, Schubert, Susanna, Abou Jamra, Rami; https://orcid.org/0000-0002-1542-1399, Schlump, Jan-Ulrich, DeMille, Desiree, Bayrak-Toydemir, Pinar, Nelson, Gary Rex, Wong, Kristen Nicole, Duncanson, Laura, Mosera, Mackenzie, Gilissen, Christian; https://orcid.org/0000-0003-1693-9699, Vissers, Lisenka E L M, Pfundt, Rolph, Kersseboom, Rogier, Yttervik, Hilde, Hansen, Geir Åsmund Myge, Smeland, Marie Falkenberg, Butler, Kameryn M, Lyons, Michael J, Carvalho, Claudia M B, Zhang, Chaofan, Lupski, James R, Potocki, Lorraine, and et al
- Abstract
Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpression in zebrafish provided evidence for a dominant-negative mode of action, wherein an increased level of AFF3 resulted in pathological effects. Methods Evolutionary constraints suggest that other modes-of-inheritance could be at play. We challenged this hypothesis by screening ID cohorts for individuals with predicted-to-be damaging variants in AFF3. We used both animal and cellular models to assess the deleteriousness of the identified variants. Results We identified an individual with a KINSSHIP-like phenotype carrying a de novo partial duplication of AFF3 further strengthening the hypothesis that an increased level of AFF3 is pathological. We also detected seventeen individuals displaying a milder syndrome with either heterozygous Loss-of-Function (LoF) or biallelic missense variants in AFF3. Consistent with semi-dominance, we discovered three patients with homozygous LoF and one compound heterozygote for a LoF and a missense variant, who presented more severe phenotypes than their heterozygous parents. Matching zebrafish knockdowns exhibit neurological defects that could be rescued by expressing human AFF3 mRNA, confirming their association with the ablation of aff3. Conversely, some of the human AFF3 mRNAs carrying missense variants identified in affected individuals did not rescue these phenotypes. Overexpression of mutated AFF3 mRNAs in zebrafish embryos produced a significant increase of abnormal larvae compared to wild-type overexpression further demonstrating deleteriousness. To further assess the effect of AFF3 variation, we profiled the transcriptome of fibroblasts from affected individuals and engineered isogenic cells harboring + / + , KINSSHIP/KINSSHIP, LoF/ + , LoF/LoF or KINSSHIP/LoF AFF3 genotyp
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- 2024
19. Do Infectious Diseases After Kidney Retransplantation Differ From Those After First Kidney Transplantation?
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Kusejko, Katharina; https://orcid.org/0000-0002-4638-1940, Neofytos, Dionysios; https://orcid.org/0000-0001-6970-2869, van Delden, Christian; https://orcid.org/0000-0002-2901-8285, Hirsch, Hans H; https://orcid.org/0000-0003-0883-0423, Meylan, Pascal, Boggian, Katia, Hirzel, Cédric; https://orcid.org/0000-0002-7870-912X, Garzoni, Christian; https://orcid.org/0000-0002-0832-2376, Sidler, Daniel; https://orcid.org/0000-0002-2435-5936, Schnyder, Aurelia, Schaub, Stefan; https://orcid.org/0000-0002-9170-1341, Golshayan, Déla, Haidar, Fadi, Bonani, Marco, Kouyos, Roger D; https://orcid.org/0000-0002-9220-8348, Mueller, Nicolas J; https://orcid.org/0000-0002-1059-3191, Schreiber, Peter W; https://orcid.org/0000-0001-8123-2601, Swiss Transplant Cohort Study, et al, Kusejko, Katharina; https://orcid.org/0000-0002-4638-1940, Neofytos, Dionysios; https://orcid.org/0000-0001-6970-2869, van Delden, Christian; https://orcid.org/0000-0002-2901-8285, Hirsch, Hans H; https://orcid.org/0000-0003-0883-0423, Meylan, Pascal, Boggian, Katia, Hirzel, Cédric; https://orcid.org/0000-0002-7870-912X, Garzoni, Christian; https://orcid.org/0000-0002-0832-2376, Sidler, Daniel; https://orcid.org/0000-0002-2435-5936, Schnyder, Aurelia, Schaub, Stefan; https://orcid.org/0000-0002-9170-1341, Golshayan, Déla, Haidar, Fadi, Bonani, Marco, Kouyos, Roger D; https://orcid.org/0000-0002-9220-8348, Mueller, Nicolas J; https://orcid.org/0000-0002-1059-3191, Schreiber, Peter W; https://orcid.org/0000-0001-8123-2601, Swiss Transplant Cohort Study, and et al
- Abstract
Background Infectious diseases (IDs) are highly relevant after solid organ transplantation in terms of morbidity and mortality, being among the most common causes of death. Patients undergoing kidney retransplantation (re-K-Tx) have been already receiving immunosuppressive therapy over a prolonged period, potentially facilitating subsequent infections. Comparing ID events after re-K-Tx and first kidney transplantation (f-K-Tx) can delineate patterns and risks of ID events associated with prolonged immunosuppression. Methods We included adult patients with records on f-K-Tx and re-K-Tx in the Swiss Transplant Cohort Study. We analyzed ID events after f-K-Tx and re-K-Tx within the same patients and compared infection rates, causative pathogens, and infection sites. Recurrent time-to-event analyses were performed for comparison of infection rates. Results A total of 59 patients with a median age of 47 years (range, 18–73) were included. Overall, 312 ID events in 52 patients occurred. In multivariable recurrent event modeling, the rate of ID events was significantly lower after re-K-Tx (hazard ratio, 0.70; P = .02). More bacterial (68.9% vs 60.4%) and fungal (4.0% vs 1.1%) infections were observed after f-K-Tx but fewer viral infections (27.0% vs 38.5%) as compared with re-K-Tx (P = .11). After f-K-Tx, urinary and gastrointestinal tract infections were more frequent; after re-K-Tx, respiratory tract and surgical site infections were more frequent (P < .001). Conclusions ID events were less frequent after re-K-Tx. Affected sites differed significantly after f-K-Tx vs re-K-Tx.
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- 2024
20. Time Trends in Causes of Death in People With Human Immunodeficiency Virus: Insights From the Swiss HIV Cohort Study
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Weber, M S R; https://orcid.org/0000-0002-8194-7655, Duran Ramirez, J J; https://orcid.org/0000-0001-6657-0688, Hentzien, M; https://orcid.org/0000-0003-2729-9420, Cavassini, M; https://orcid.org/0000-0003-0933-7833, Bernasconi, E; https://orcid.org/0000-0002-9724-8373, Hofmann, E; https://orcid.org/0000-0003-3357-2438, Furrer, H; https://orcid.org/0000-0002-1375-3146, Kovari, H; https://orcid.org/0000-0003-4896-4231, Stöckle, M; https://orcid.org/0000-0002-0088-5078, Schmid, P, Haerry, D, Braun, D L; https://orcid.org/0000-0003-4036-1030, Günthard, H F; https://orcid.org/0000-0002-1142-6723, Kusejko, K; https://orcid.org/0000-0002-4638-1940, Swiss HIV Cohort Study, Aebi-Popp, K, Anagnostopoulos, A, Battegay, M, Bernasconi, E, Braun, D L, Bucher, H C, Calmy, A, Cavassini, M, Ciuffi, A, Dollenmaier, G, Egger, M, Elzi, L, Fehr, J, Fellay, J, Furrer, H, et al, Weber, M S R; https://orcid.org/0000-0002-8194-7655, Duran Ramirez, J J; https://orcid.org/0000-0001-6657-0688, Hentzien, M; https://orcid.org/0000-0003-2729-9420, Cavassini, M; https://orcid.org/0000-0003-0933-7833, Bernasconi, E; https://orcid.org/0000-0002-9724-8373, Hofmann, E; https://orcid.org/0000-0003-3357-2438, Furrer, H; https://orcid.org/0000-0002-1375-3146, Kovari, H; https://orcid.org/0000-0003-4896-4231, Stöckle, M; https://orcid.org/0000-0002-0088-5078, Schmid, P, Haerry, D, Braun, D L; https://orcid.org/0000-0003-4036-1030, Günthard, H F; https://orcid.org/0000-0002-1142-6723, Kusejko, K; https://orcid.org/0000-0002-4638-1940, Swiss HIV Cohort Study, Aebi-Popp, K, Anagnostopoulos, A, Battegay, M, Bernasconi, E, Braun, D L, Bucher, H C, Calmy, A, Cavassini, M, Ciuffi, A, Dollenmaier, G, Egger, M, Elzi, L, Fehr, J, Fellay, J, Furrer, H, and et al
- Abstract
Background Advancements in access to antiretroviral therapy (ART) and human immunodeficiency virus (HIV) care have led to a decline in AIDS-related deaths among people with HIV (PWH) in Switzerland. However, data on the ongoing changes in causes of death among PWH over the past 15 years are scarce. Methods We investigated all reported deaths in the Swiss HIV Cohort Study between 2005 and 2022. Causes of death were categorized using the Coding Causes of Death in HIV protocol. The statistical analysis included demographic stratification to identify time trends and logistic regression models to determine associated factors for the underlying cause of death. Results In total, 1630 deaths were reported, with 23.7% of individuals assigned female sex at birth. These deaths included 147 (9.0%) HIV/AIDS-related deaths, 373 (22.9%) due to non-AIDS, non-hepatic cancers, 166 (10.2%) liver-related deaths, and 158 (9.7%) cardiovascular-related deaths. The median age at death (interquartile range) increased from 45.0 (40.0–53.0) years in 2005–2007 to 61.0 (56.0–69.5) years in 2020–2022. HIV/AIDS- and liver-related deaths decreased, whereas deaths from non-AIDS, non-hepatic cancers increased and cardiovascular-related deaths remained relatively stable. Conclusions The proportionally decreasing HIV/AIDS and liver-related deaths showcase the effectiveness of ART, comprehensive HIV patient care, and interventions targeting hepatitis C virus coinfection. Future research should focus on managing cancer and cardiovascular-related conditions as the new leading causes of death among PWH. Comprehensive healthcare strategies focusing on non–AIDS-related comorbid conditions, cancer management, and sustaining liver and cardiovascular health are needed to bridge the ongoing health disparities between PWH and the general population.
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- 2024
21. How much should we sequence? An analysis of the Swiss SARS-CoV-2 surveillance effort
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Wegner, Fanny; https://orcid.org/0000-0003-4348-5872, Cabrera-Gil, Blanca, Tanguy, Araud, Beckmann, Christiane, Beerenwinkel, Niko, Bertelli, Claire; https://orcid.org/0000-0003-0550-8981, Carrara, Matteo, Cerutti, Lorenzo, Chen, Chaoran, Cordey, Samuel, Dumoulin, Alexis, du Plessis, Louis, Friedli, Marc, Gerth, Yannick, Greub, Gilbert; https://orcid.org/0000-0001-9529-3317, Härri, Adrian, Hirsch, Hans; https://orcid.org/0000-0003-0883-0423, Howald, Cedric, Huber, Michael, Imhof, Alexander, Kaiser, Laurent, Kufner, Verena, Leib, Stephen L; https://orcid.org/0000-0002-1106-6123, Leuzinger, Karoline; https://orcid.org/0000-0002-5654-9356, Lleshi, Etleva, Martinetti, Gladys, Mäusezahl, Mirjam, Neher, Richard; https://orcid.org/0000-0003-2525-1407, Trkola, Alexandra; https://orcid.org/0000-0003-1013-876X, Egli, Adrian; https://orcid.org/0000-0002-3564-8603, et al, SPSP consortium, Wegner, Fanny; https://orcid.org/0000-0003-4348-5872, Cabrera-Gil, Blanca, Tanguy, Araud, Beckmann, Christiane, Beerenwinkel, Niko, Bertelli, Claire; https://orcid.org/0000-0003-0550-8981, Carrara, Matteo, Cerutti, Lorenzo, Chen, Chaoran, Cordey, Samuel, Dumoulin, Alexis, du Plessis, Louis, Friedli, Marc, Gerth, Yannick, Greub, Gilbert; https://orcid.org/0000-0001-9529-3317, Härri, Adrian, Hirsch, Hans; https://orcid.org/0000-0003-0883-0423, Howald, Cedric, Huber, Michael, Imhof, Alexander, Kaiser, Laurent, Kufner, Verena, Leib, Stephen L; https://orcid.org/0000-0002-1106-6123, Leuzinger, Karoline; https://orcid.org/0000-0002-5654-9356, Lleshi, Etleva, Martinetti, Gladys, Mäusezahl, Mirjam, Neher, Richard; https://orcid.org/0000-0003-2525-1407, Trkola, Alexandra; https://orcid.org/0000-0003-1013-876X, Egli, Adrian; https://orcid.org/0000-0002-3564-8603, et al, and SPSP consortium
- Abstract
During the SARS-CoV-2 pandemic, many countries directed substantial resources toward genomic surveillance to detect and track viral variants. There is a debate over how much sequencing effort is necessary in national surveillance programs for SARS-CoV-2 and future pandemic threats. We aimed to investigate the effect of reduced sequencing on surveillance outcomes in a large genomic data set from Switzerland, comprising more than 143k sequences. We employed a uniform downsampling strategy using 100 iterations each to investigate the effects of fewer available sequences on the surveillance outcomes: (i) first detection of variants of concern (VOCs), (ii) speed of introduction of VOCs, (iii) diversity of lineages, (iv) first cluster detection of VOCs, (v) density of active clusters, and (vi) geographic spread of clusters. The impact of downsampling on VOC detection is disparate for the three VOC lineages, but many outcomes including introduction and cluster detection could be recapitulated even with only 35% of the original sequencing effort. The effect on the observed speed of introduction and first detection of clusters was more sensitive to reduced sequencing effort for some VOCs, in particular Omicron and Delta, respectively. A genomic surveillance program needs a balance between societal benefits and costs. While the overall national dynamics of the pandemic could be recapitulated by a reduced sequencing effort, the effect is strongly lineage-dependent-something that is unknown at the time of sequencing-and comes at the cost of accuracy, in particular for tracking the emergence of potential VOCs.IMPORTANCESwitzerland had one of the most comprehensive genomic surveillance systems during the COVID-19 pandemic. Such programs need to strike a balance between societal benefits and program costs. Our study aims to answer the question: How would surveillance outcomes have changed had we sequenced less? We find that some outcomes but also certain viral lineages are more af
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- 2024
22. Prognostic value of histopathologic traits independent of stromal tumor-infiltrating lymphocyte levels in chemotherapy-naïve patients with triple-negative breast cancer
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de Boo, L W, Jóźwiak, K; https://orcid.org/0000-0002-9614-6586, Ter Hoeve, N D, van Diest, P J; https://orcid.org/0000-0003-0658-2745, Opdam, M; https://orcid.org/0000-0001-5832-6386, Wang, Y; https://orcid.org/0000-0002-1482-7039, Schmidt, M K; https://orcid.org/0000-0002-2228-429X, de Jong, V, Kleiterp, S, Cornelissen, S, Baars, D, Koornstra, R H T, Kerver, E D; https://orcid.org/0009-0004-6456-4857, van Dalen, T, Bins, A D, Beeker, A; https://orcid.org/0000-0003-4133-769X, van den Heiligenberg, S M, de Jong, P C, Bakker, S D; https://orcid.org/0000-0003-3936-4648, Rietbroek, R C, Konings, I R, Blankenburgh, R, Bijlsma, R M; https://orcid.org/0000-0003-0980-6652, Imholz, A L T, Stathonikos, N, Vreuls, W; https://orcid.org/0000-0001-6661-6017, Sanders, J, Rosenberg, E H; https://orcid.org/0000-0002-3859-6941, Koop, E A, Varga, Z; https://orcid.org/0000-0002-2855-983X, et al, de Boo, L W, Jóźwiak, K; https://orcid.org/0000-0002-9614-6586, Ter Hoeve, N D, van Diest, P J; https://orcid.org/0000-0003-0658-2745, Opdam, M; https://orcid.org/0000-0001-5832-6386, Wang, Y; https://orcid.org/0000-0002-1482-7039, Schmidt, M K; https://orcid.org/0000-0002-2228-429X, de Jong, V, Kleiterp, S, Cornelissen, S, Baars, D, Koornstra, R H T, Kerver, E D; https://orcid.org/0009-0004-6456-4857, van Dalen, T, Bins, A D, Beeker, A; https://orcid.org/0000-0003-4133-769X, van den Heiligenberg, S M, de Jong, P C, Bakker, S D; https://orcid.org/0000-0003-3936-4648, Rietbroek, R C, Konings, I R, Blankenburgh, R, Bijlsma, R M; https://orcid.org/0000-0003-0980-6652, Imholz, A L T, Stathonikos, N, Vreuls, W; https://orcid.org/0000-0001-6661-6017, Sanders, J, Rosenberg, E H; https://orcid.org/0000-0002-3859-6941, Koop, E A, Varga, Z; https://orcid.org/0000-0002-2855-983X, and et al
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- 2024
23. 10 Must Knows from Biodiversity Science 2024
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Leibniz Research Network Biodiversity., Thonicke, Kirsten; https://orcid.org/0000-0001-5283-4937, Rahner, Eva, Arneth, Almut, Bonn, Aletta, Borchard, Nils, Chaudhary, Abishek, Darbi, Marianne, Dutta, Trishna, Eberle, Ute, Eisenhauer, Nico, Farwig, Nina, Flocco, Cecilia G, Freitag, Jens, Grobe, Peter, Grosch, Rita, Grossart, Hans Peter, Grosse, Angela, Grützmacher, Kim, Hagemann, Nina, Hansjürgens, Bernd, Hartmann Scholz, Amber, Hassenrück, Christiane, Häuser, Christoph, Hickler, Thomas, Hölker, Franz; https://orcid.org/0000-0001-5932-266X, Jacob, Ute, Jähnig, Sonja C; https://orcid.org/0000-0002-6349-9561, Jürgens, Klaus, Krug, Cornelia; https://orcid.org/0000-0002-2470-1229, et al, Leibniz Research Network Biodiversity., Thonicke, Kirsten; https://orcid.org/0000-0001-5283-4937, Rahner, Eva, Arneth, Almut, Bonn, Aletta, Borchard, Nils, Chaudhary, Abishek, Darbi, Marianne, Dutta, Trishna, Eberle, Ute, Eisenhauer, Nico, Farwig, Nina, Flocco, Cecilia G, Freitag, Jens, Grobe, Peter, Grosch, Rita, Grossart, Hans Peter, Grosse, Angela, Grützmacher, Kim, Hagemann, Nina, Hansjürgens, Bernd, Hartmann Scholz, Amber, Hassenrück, Christiane, Häuser, Christoph, Hickler, Thomas, Hölker, Franz; https://orcid.org/0000-0001-5932-266X, Jacob, Ute, Jähnig, Sonja C; https://orcid.org/0000-0002-6349-9561, Jürgens, Klaus, Krug, Cornelia; https://orcid.org/0000-0002-2470-1229, and et al
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- 2024
24. How to follow the guidelines, when the appropriate fluid is missing?
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Brossier, David W; https://orcid.org/0000-0002-2059-9888, Goyer, Isabelle, Morice, Claire, Alsohime, Fahad, Mayberry, Huw F; https://orcid.org/0000-0002-3769-2595, Porcheret, Florence, Tume, Lyvonne N; https://orcid.org/0000-0002-2547-8209, Valla, Frederic V, Beldjilali, Sophie, Chiusolo, Fabrizio; https://orcid.org/0000-0003-0265-609X, Costa, Leonardo, Didier, Capucine, Ilia, Stavroula; https://orcid.org/0000-0002-0936-368X, Joram, Nyandat L; https://orcid.org/0000-0003-4107-3241, Jotterand Chaparro, Corinne; https://orcid.org/0000-0002-1538-7127, Kneyber, Martin CJ, Kühlwein, Eva, Lopez, Jorge; https://orcid.org/0000-0002-9942-6399, López-Herce, Jesus; https://orcid.org/0000-0001-6105-9178, Marino, Luise V; https://orcid.org/0000-0002-1257-121X, Mehmeti, Fortesa, Mierzewska-Schmidt, Magdalena, Miñambres Rodríguez, Maria; https://orcid.org/0000-0001-7955-5612, Moullet, Clémence; https://orcid.org/0000-0003-1056-9869, Pappachan, John V; https://orcid.org/0000-0002-3559-0595, Reis Boto, Leonor; https://orcid.org/0000-0001-6144-1617, Rooze, Shancy, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Tekguc, Hakan; https://orcid.org/0000-0001-6424-6761, Tziouvas, Konstantinos; https://orcid.org/0000-0002-6863-7708, et al, Brossier, David W; https://orcid.org/0000-0002-2059-9888, Goyer, Isabelle, Morice, Claire, Alsohime, Fahad, Mayberry, Huw F; https://orcid.org/0000-0002-3769-2595, Porcheret, Florence, Tume, Lyvonne N; https://orcid.org/0000-0002-2547-8209, Valla, Frederic V, Beldjilali, Sophie, Chiusolo, Fabrizio; https://orcid.org/0000-0003-0265-609X, Costa, Leonardo, Didier, Capucine, Ilia, Stavroula; https://orcid.org/0000-0002-0936-368X, Joram, Nyandat L; https://orcid.org/0000-0003-4107-3241, Jotterand Chaparro, Corinne; https://orcid.org/0000-0002-1538-7127, Kneyber, Martin CJ, Kühlwein, Eva, Lopez, Jorge; https://orcid.org/0000-0002-9942-6399, López-Herce, Jesus; https://orcid.org/0000-0001-6105-9178, Marino, Luise V; https://orcid.org/0000-0002-1257-121X, Mehmeti, Fortesa, Mierzewska-Schmidt, Magdalena, Miñambres Rodríguez, Maria; https://orcid.org/0000-0001-7955-5612, Moullet, Clémence; https://orcid.org/0000-0003-1056-9869, Pappachan, John V; https://orcid.org/0000-0002-3559-0595, Reis Boto, Leonor; https://orcid.org/0000-0001-6144-1617, Rooze, Shancy, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Tekguc, Hakan; https://orcid.org/0000-0001-6424-6761, Tziouvas, Konstantinos; https://orcid.org/0000-0002-6863-7708, and et al
- Abstract
Intravenous maintenance fluid therapy (IV-MFT) is probably the most prescribed drug in paediatric hospital care. Recently paediatric societies have produced evidence-based practice guidelines that recommend the use of balanced isotonic fluid when prescribing IV-MFT in both acute and critical paediatric care. Unfortunately, the applicability of these guidelines could be called into question when a ready-to-use glucose-containing balanced isotonic fluid is not available. The main objective of this study was to describe the availability of glucose-containing balanced isotonic fluids in European and Middle Eastern paediatric acute and critical care settings. This work is an ancillary study of the survey dedicated to IV-MFT practices in the paediatric acute and critical care settings in Europe and Middle East, a cross-sectional electronic 27-item survey, emailed in April–May 2021 to paediatric critical care physicians across 34 European and Middle East countries. The survey was developed by an expert multi-professional panel within the European Society of Peadiatric and Neonatal Intensive Care (ESPNIC). Balanced isotonic fluid with glucose 5% was available for only 32/153 (21%) responders. Balanced isotonic fluid with glucose 5% was consistently available in the UK (90%) but not available in France, Greece, The Netherlands and Turkey. Conclusion: Ready-to-use isotonic balanced IV solutions containing glucose in sufficient amount exist but are inconsistently available throughout Europe. National and European Medication Safety Incentives should guarantee the availability of the most appropriate and safest IV-MFT solution for all children. What is Known:• Intravenous maintenance fluid therapy (IV-MFT) is probably the most prescribed drug in paediatric hospital care.• Balanced isotonic fluid is recommended when prescribing IV-MFT in both acute and critical paediatric care. What is New:• Balanced isotonic fluid with glucose 5% is available for less than 25% of the prescrib
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- 2024
25. Plasma Protein Biomarkers Distinguish Multisystem Inflammatory Syndrome in Children From Other Pediatric Infectious and Inflammatory Diseases
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Yeoh, Sophya, Estrada-Rivadeneyra, Diego; https://orcid.org/0000-0003-2512-7131, Jackson, Heather; https://orcid.org/0000-0002-1054-9983, Keren, Ilana, Galassini, Rachel; https://orcid.org/0000-0002-1025-0367, Cooray, Samantha; https://orcid.org/0000-0001-6103-8895, Shah, Priyen; https://orcid.org/0000-0001-9164-8862, Agyeman, Philipp; https://orcid.org/0000-0002-8339-5444, Basmaci, Romain; https://orcid.org/0000-0002-5277-0002, Carrol, Enitan; https://orcid.org/0000-0001-8357-7726, Emonts, Marieke; https://orcid.org/0000-0002-2822-3527, Fink, Colin; https://orcid.org/0000-0002-8008-5870, Kuijpers, Taco; https://orcid.org/0000-0002-7421-3370, Martinon-Torres, Federico; https://orcid.org/0000-0002-9023-581X, Mommert-Tripon, Marine; https://orcid.org/0000-0001-5624-7756, Paulus, Stephane; https://orcid.org/0000-0002-0703-9114, Pokorn, Marko; https://orcid.org/0000-0002-2341-2791, Rojo, Pablo, Romani, Lorenza; https://orcid.org/0000-0003-4195-6626, Schlapbach, Luregn; https://orcid.org/0000-0003-2281-2598, Schweintzger, Nina; https://orcid.org/0000-0003-2549-5911, Shen, Ching-Fen, Tsolia, Maria; https://orcid.org/0000-0003-2485-4409, Usuf, Effua, van der Flier, Michiel; https://orcid.org/0000-0003-1296-0159, Vermont, Clementien, von Both, Ulrich; https://orcid.org/0000-0001-8411-1071, Yeung, Shunmay; https://orcid.org/0000-0002-0997-0850, Zavadska, Dace; https://orcid.org/0000-0003-4892-3763, Coin, Lachlan; https://orcid.org/0000-0002-4300-455X, et al, Yeoh, Sophya, Estrada-Rivadeneyra, Diego; https://orcid.org/0000-0003-2512-7131, Jackson, Heather; https://orcid.org/0000-0002-1054-9983, Keren, Ilana, Galassini, Rachel; https://orcid.org/0000-0002-1025-0367, Cooray, Samantha; https://orcid.org/0000-0001-6103-8895, Shah, Priyen; https://orcid.org/0000-0001-9164-8862, Agyeman, Philipp; https://orcid.org/0000-0002-8339-5444, Basmaci, Romain; https://orcid.org/0000-0002-5277-0002, Carrol, Enitan; https://orcid.org/0000-0001-8357-7726, Emonts, Marieke; https://orcid.org/0000-0002-2822-3527, Fink, Colin; https://orcid.org/0000-0002-8008-5870, Kuijpers, Taco; https://orcid.org/0000-0002-7421-3370, Martinon-Torres, Federico; https://orcid.org/0000-0002-9023-581X, Mommert-Tripon, Marine; https://orcid.org/0000-0001-5624-7756, Paulus, Stephane; https://orcid.org/0000-0002-0703-9114, Pokorn, Marko; https://orcid.org/0000-0002-2341-2791, Rojo, Pablo, Romani, Lorenza; https://orcid.org/0000-0003-4195-6626, Schlapbach, Luregn; https://orcid.org/0000-0003-2281-2598, Schweintzger, Nina; https://orcid.org/0000-0003-2549-5911, Shen, Ching-Fen, Tsolia, Maria; https://orcid.org/0000-0003-2485-4409, Usuf, Effua, van der Flier, Michiel; https://orcid.org/0000-0003-1296-0159, Vermont, Clementien, von Both, Ulrich; https://orcid.org/0000-0001-8411-1071, Yeung, Shunmay; https://orcid.org/0000-0002-0997-0850, Zavadska, Dace; https://orcid.org/0000-0003-4892-3763, Coin, Lachlan; https://orcid.org/0000-0002-4300-455X, and et al
- Abstract
Background: Multisystem inflammatory syndrome in children (MIS-C) is a rare but serious hyperinflammatory complication following infection with severe acute respiratory syndrome coronavirus 2. The mechanisms underpinning the pathophysiology of MIS-C are poorly understood. Moreover, clinically distinguishing MIS-C from other childhood infectious and inflammatory conditions, such as Kawasaki disease or severe bacterial and viral infections, is challenging due to overlapping clinical and laboratory features. We aimed to determine a set of plasma protein biomarkers that could discriminate MIS-C from those other diseases. Methods: Seven candidate protein biomarkers for MIS-C were selected based on literature and from whole blood RNA sequencing data from patients with MIS-C and other diseases. Plasma concentrations of ARG1, CCL20, CD163, CORIN, CXCL9, PCSK9 and ADAMTS2 were quantified in MIS-C (n = 22), Kawasaki disease (n = 23), definite bacterial (n = 28) and viral (n = 27) disease and healthy controls (n = 8). Logistic regression models were used to determine the discriminatory ability of individual proteins and protein combinations to identify MIS-C and association with severity of illness. Results: Plasma levels of CD163, CXCL9 and PCSK9 were significantly elevated in MIS-C with a combined area under the receiver operating characteristic curve of 85.7% (95% confidence interval: 76.6%–94.8%) for discriminating MIS-C from other childhood diseases. Lower ARG1 and CORIN plasma levels were significantly associated with severe MIS-C cases requiring inotropes, pediatric intensive care unit admission or with shock. Conclusion: Our findings demonstrate the feasibility of a host protein biomarker signature for MIS-C and may provide new insight into its pathophysiology.
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- 2024
26. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
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Nashabat, Marwan, Nabavizadeh, Nasrinsadat; https://orcid.org/0000-0002-1629-6956, Saraçoğlu, Hilal Pırıl; https://orcid.org/0000-0002-3734-489X, Sarıbaş, Burak; https://orcid.org/0000-0003-4329-0418, Avcı, Şahin, Börklü, Esra; https://orcid.org/0000-0002-1326-0608, Beillard, Emmanuel; https://orcid.org/0000-0002-2546-7614, Yılmaz, Elanur; https://orcid.org/0000-0001-7045-5068, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem; https://orcid.org/0000-0001-5754-9289, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072, Richter, Manuela Friederike; https://orcid.org/0000-0002-5735-4526, Bademci, Guney, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela; https://orcid.org/0000-0001-9759-2599, Viola, Laura; https://orcid.org/0000-0001-7410-6869, Bergmann, Anke Katharina; https://orcid.org/0000-0002-1367-2725, Rocha, Maria Eugenia, Peart, LeShon; https://orcid.org/0000-0003-1068-1906, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Stettner, Georg M; https://orcid.org/0000-0002-0906-8816, et al, Nashabat, Marwan, Nabavizadeh, Nasrinsadat; https://orcid.org/0000-0002-1629-6956, Saraçoğlu, Hilal Pırıl; https://orcid.org/0000-0002-3734-489X, Sarıbaş, Burak; https://orcid.org/0000-0003-4329-0418, Avcı, Şahin, Börklü, Esra; https://orcid.org/0000-0002-1326-0608, Beillard, Emmanuel; https://orcid.org/0000-0002-2546-7614, Yılmaz, Elanur; https://orcid.org/0000-0001-7045-5068, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem; https://orcid.org/0000-0001-5754-9289, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina; https://orcid.org/0000-0002-4425-3072, Richter, Manuela Friederike; https://orcid.org/0000-0002-5735-4526, Bademci, Guney, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela; https://orcid.org/0000-0001-9759-2599, Viola, Laura; https://orcid.org/0000-0001-7410-6869, Bergmann, Anke Katharina; https://orcid.org/0000-0002-1367-2725, Rocha, Maria Eugenia, Peart, LeShon; https://orcid.org/0000-0003-1068-1906, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Stettner, Georg M; https://orcid.org/0000-0002-0906-8816, and et al
- Abstract
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic SNUPN biallelic variants, predominantly clustered in the last coding exon, are ascertained to segregate with the disease. We demonstrate that mutant SPN1 failed to oligomerize leading to cytoplasmic aggregation in patients’ primary fibroblasts and CRISPR/Cas9-mediated mutant cell lines. Additionally, mutant nuclei exhibit defective spliceosomal maturation and breakdown of Cajal bodies. Transcriptome analyses reveal splicing and mRNA expression dysregulation, particularly in sarcolemmal components, causing disruption of cytoskeletal organization in mutant cells and patient muscle tissues. Our findings establish SNUPN deficiency as the genetic etiology of a previously unrecognized subtype of muscular dystrophy and provide robust evidence of the role of SPN1 for muscle homeostasis.
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- 2024
27. Primary care indicators for disease burden, monitoring and surveillance of COVID-19 in 31 European countries: Eurodata Study
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Ares-Blanco, Sara; https://orcid.org/0000-0002-4984-8788, Guisado-Clavero, Marina, Del Rio, Lourdes Ramos; https://orcid.org/0000-0003-4850-2053, Larrondo, Ileana Gefaell, Fitzgerald, Louise; https://orcid.org/0009-0009-8039-3097, Murauskienė, Liubovė; https://orcid.org/0000-0002-6625-8843, López, Naldy Parodi; https://orcid.org/0000-0001-6367-9389, Perjés, Ábel; https://orcid.org/0000-0002-7176-1275, Petek, Davorina; https://orcid.org/0000-0002-0151-4463, Petrazzuoli, Ferdinando; https://orcid.org/0000-0003-1058-492X, Petricek, Goranka; https://orcid.org/0000-0002-6614-3085, Sattler, Martin, Saurek-Aleksandrovska, Natalija, Senn, Oliver; https://orcid.org/0000-0003-4422-7250, Seifert, Bohumil; https://orcid.org/0000-0002-6881-8840, Serafini, Alice; https://orcid.org/0000-0002-7396-2839, Sentker, Theresa; https://orcid.org/0000-0003-1162-310X, Ticmane, Gunta, Tiili, Paula; https://orcid.org/0000-0002-7916-7262, Torzsa, Péter; https://orcid.org/0000-0002-8148-4961, Valtonen, Kirsi, Vaes, Bert; https://orcid.org/0000-0001-5244-1930, Vinker, Shlomo; https://orcid.org/0000-0001-9804-7103, Adler, Limor; https://orcid.org/0000-0002-9335-6596, Assenova, Radost; https://orcid.org/0000-0003-2158-5792, Bakola, Maria; https://orcid.org/0000-0002-9016-9322, Bayen, Sabine; https://orcid.org/0000-0002-3334-9394, Brutskaya-Stempkovskaya, Elena, Busneag, Iliana-Carmen, Divjak, Asja Ćosić, et al, Ares-Blanco, Sara; https://orcid.org/0000-0002-4984-8788, Guisado-Clavero, Marina, Del Rio, Lourdes Ramos; https://orcid.org/0000-0003-4850-2053, Larrondo, Ileana Gefaell, Fitzgerald, Louise; https://orcid.org/0009-0009-8039-3097, Murauskienė, Liubovė; https://orcid.org/0000-0002-6625-8843, López, Naldy Parodi; https://orcid.org/0000-0001-6367-9389, Perjés, Ábel; https://orcid.org/0000-0002-7176-1275, Petek, Davorina; https://orcid.org/0000-0002-0151-4463, Petrazzuoli, Ferdinando; https://orcid.org/0000-0003-1058-492X, Petricek, Goranka; https://orcid.org/0000-0002-6614-3085, Sattler, Martin, Saurek-Aleksandrovska, Natalija, Senn, Oliver; https://orcid.org/0000-0003-4422-7250, Seifert, Bohumil; https://orcid.org/0000-0002-6881-8840, Serafini, Alice; https://orcid.org/0000-0002-7396-2839, Sentker, Theresa; https://orcid.org/0000-0003-1162-310X, Ticmane, Gunta, Tiili, Paula; https://orcid.org/0000-0002-7916-7262, Torzsa, Péter; https://orcid.org/0000-0002-8148-4961, Valtonen, Kirsi, Vaes, Bert; https://orcid.org/0000-0001-5244-1930, Vinker, Shlomo; https://orcid.org/0000-0001-9804-7103, Adler, Limor; https://orcid.org/0000-0002-9335-6596, Assenova, Radost; https://orcid.org/0000-0003-2158-5792, Bakola, Maria; https://orcid.org/0000-0002-9016-9322, Bayen, Sabine; https://orcid.org/0000-0002-3334-9394, Brutskaya-Stempkovskaya, Elena, Busneag, Iliana-Carmen, Divjak, Asja Ćosić, and et al
- Abstract
BACKGROUND During the COVID-19 pandemic, the majority of patients received ambulatory treatment, highlighting the importance of primary health care (PHC). However, there is limited knowledge regarding PHC workload in Europe during this period. The utilization of COVID-19 PHC indicators could facilitate the efficient monitoring and coordination of the pandemic response. The objective of this study is to describe PHC indicators for disease surveillance and monitoring of COVID-19's impact in Europe. METHODS Descriptive, cross-sectional study employing data obtained through a semi-structured ad hoc questionnaire, which was collectively agreed upon by all participants. The study encompasses PHC settings in 31 European countries from March 2020 to August 2021. Key-informants from each country answered the questionnaire. Main outcome: the identification of any indicator used to describe PHC COVID-19 activity. RESULTS Out of the 31 countries surveyed, data on PHC information were obtained from 14. The principal indicators were: total number of cases within PHC (Belarus, Cyprus, Italy, Romania and Spain), number of follow-up cases (Croatia, Cyprus, Finland, Spain and Turkey), GP's COVID-19 tests referrals (Poland), proportion of COVID-19 cases among respiratory illnesses consultations (Norway and France), sick leaves issued by GPs (Romania and Spain) and examination and complementary tests (Cyprus). All COVID-19 cases were attended in PHC in Belarus and Italy. CONCLUSIONS The COVID-19 pandemic exposes a crucial deficiency in preparedness for infectious diseases in European health systems highlighting the inconsistent recording of indicators within PHC organizations. PHC standardized indicators and public data accessibility are urgently needed, conforming the foundation for an effective European-level health services response framework against future pandemics.
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- 2024
28. An improved limit on the neutrinoless double-electron capture of $^{36}$Ar with GERDA
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Agostini, M, Alexander, A, Araujo, G R, Bakalyarov, A M, Balata, M, Barabanov, I, Baudis, L, Bauer, C, Belogurov, S, Bettini, A, Bezrukov, L, Biancacci, V, Bossio, E, Bothe, V, Brudanin, V, Brugnera, R, Caldwell, A, Cattadori, C, Chernogorov, A, Comellato, T, D’Andrea, V, Demidova, E V, Marco, N Di, Doroshkevich, E, Fischer, F, Fomina, M, Ransom, Chloe; https://orcid.org/0000-0001-6668-9478, Müller, Y, Huang, J, et al, Agostini, M, Alexander, A, Araujo, G R, Bakalyarov, A M, Balata, M, Barabanov, I, Baudis, L, Bauer, C, Belogurov, S, Bettini, A, Bezrukov, L, Biancacci, V, Bossio, E, Bothe, V, Brudanin, V, Brugnera, R, Caldwell, A, Cattadori, C, Chernogorov, A, Comellato, T, D’Andrea, V, Demidova, E V, Marco, N Di, Doroshkevich, E, Fischer, F, Fomina, M, Ransom, Chloe; https://orcid.org/0000-0001-6668-9478, Müller, Y, Huang, J, and et al
- Abstract
The GERmanium Detector Array (Gerda) experiment operated enriched high-purity germanium detectors in a liquid argon cryostat, which contains 0.33% of $^{36}$Ar, a candidate isotope for the two-neutrino double-electron capture (2$\nu $ECEC) and therefore for the neutrinoless double-electron capture (0$\nu $ECEC). If detected, this process would give evidence of lepton number violation and the Majorana nature of neutrinos. In the radiative 0$\nu $ECEC of $^{36}$Ar, a monochromatic photon is emitted with an energy of 429.88 keV, which may be detected by the Gerda germanium detectors. We searched for the $^{36}$Ar 0$\nu $ECEC with Gerda data, with a total live time of 4.34 year (3.08 year accumulated during Gerda Phase II and 1.26 year during Gerda Phase I). No signal was found and a 90% CL lower limit on the half-life of this process was established $T_{1/2} >1.5\cdot 10^{22} $ year.
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- 2024
29. The predictive value of highly malignant EEG patterns after cardiac arrest: evaluation of the ERC-ESICM recommendations
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Turella, Sara, Dankiewicz, Josef, Friberg, Hans, Jakobsen, Janus Christian, Leithner, Christoph, Levin, Helena, Lilja, Gisela, Moseby-Knappe, Marion, Nielsen, Niklas, Rossetti, Andrea O, Sandroni, Claudio, Zubler, Frédéric, Cronberg, Tobias, Westhall, Erik; https://orcid.org/0009-0003-6552-4665, Wendel Garcia, Pedro David; https://orcid.org/0000-0001-7775-3279, et al, Turella, Sara, Dankiewicz, Josef, Friberg, Hans, Jakobsen, Janus Christian, Leithner, Christoph, Levin, Helena, Lilja, Gisela, Moseby-Knappe, Marion, Nielsen, Niklas, Rossetti, Andrea O, Sandroni, Claudio, Zubler, Frédéric, Cronberg, Tobias, Westhall, Erik; https://orcid.org/0009-0003-6552-4665, Wendel Garcia, Pedro David; https://orcid.org/0000-0001-7775-3279, and et al
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- 2024
30. Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults
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Phelps, Nowell H, Singleton, Rosie K, Zhou, Bin, Heap, Rachel A, Mishra, Anu, Bennett, James E, Paciorek, Christopher J, Lhoste, Victor PF, Carrillo-Larco, Rodrigo M, Stevens, Gretchen A, Rodriguez-Martinez, Andrea, Bixby, Honor, Bentham, James, Di Cesare, Mariachiara, Danaei, Goodarz, Rayner, Archie W, Barradas-Pires, Ana, Cowan, Melanie J, Savin, Stefan, Riley, Leanne M, Aguilar-Salinas, Carlos A, Baker, Jennifer L, Barkat, Amina, Bhutta, Zulfiqar A, Branca, Francesco, Caixeta, Roberta B, Cuschieri, Sarah, Farzadfar, Farshad, Ganapathy, Shubash, Ikeda, Nayu, Gutzwiller, Felix, et al, Phelps, Nowell H, Singleton, Rosie K, Zhou, Bin, Heap, Rachel A, Mishra, Anu, Bennett, James E, Paciorek, Christopher J, Lhoste, Victor PF, Carrillo-Larco, Rodrigo M, Stevens, Gretchen A, Rodriguez-Martinez, Andrea, Bixby, Honor, Bentham, James, Di Cesare, Mariachiara, Danaei, Goodarz, Rayner, Archie W, Barradas-Pires, Ana, Cowan, Melanie J, Savin, Stefan, Riley, Leanne M, Aguilar-Salinas, Carlos A, Baker, Jennifer L, Barkat, Amina, Bhutta, Zulfiqar A, Branca, Francesco, Caixeta, Roberta B, Cuschieri, Sarah, Farzadfar, Farshad, Ganapathy, Shubash, Ikeda, Nayu, Gutzwiller, Felix, and et al
- Published
- 2024
31. White matter diffusion estimates in obsessive-compulsive disorder across 1653 individuals: machine learning findings from the ENIGMA OCD Working Group
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Kim, Bo-Gyeom; https://orcid.org/0000-0003-2685-877X, Kim, Gakyung, Abe, Yoshinari; https://orcid.org/0000-0001-8348-0801, Alonso, Pino; https://orcid.org/0000-0002-5779-9111, Ameis, Stephanie; https://orcid.org/0000-0002-7282-6077, Anticevic, Alan; https://orcid.org/0000-0002-4324-0536, Arnold, Paul D; https://orcid.org/0000-0003-2496-4624, Balachander, Srinivas, Banaj, Nerisa; https://orcid.org/0000-0002-6317-8549, Bargalló, Nuria, Batistuzzo, Marcelo C; https://orcid.org/0000-0003-1347-8241, Benedetti, Francesco; https://orcid.org/0000-0003-4949-856X, Bertolín, Sara; https://orcid.org/0000-0003-1468-7862, Beucke, Jan Carl, Bollettini, Irene; https://orcid.org/0000-0003-3666-3538, Brem, Silvia; https://orcid.org/0000-0002-8031-1305, Brennan, Brian P; https://orcid.org/0000-0001-5468-6552, Buitelaar, Jan K; https://orcid.org/0000-0001-8288-7757, Calvo, Rosa; https://orcid.org/0000-0001-9572-4228, Castelo-Branco, Miguel, Cheng, Yuqi, Chhatkuli, Ritu Bhusal, Ciullo, Valentina; https://orcid.org/0000-0002-6870-6259, Coelho, Ana, Couto, Beatriz, Dallaspezia, Sara, Ely, Benjamin A; https://orcid.org/0000-0002-3019-0090, Ferreira, Sónia, Fontaine, Martine, Fouche, Jean-Paul, Walitza, Susanne; https://orcid.org/0000-0002-8161-8683, et al, Kim, Bo-Gyeom; https://orcid.org/0000-0003-2685-877X, Kim, Gakyung, Abe, Yoshinari; https://orcid.org/0000-0001-8348-0801, Alonso, Pino; https://orcid.org/0000-0002-5779-9111, Ameis, Stephanie; https://orcid.org/0000-0002-7282-6077, Anticevic, Alan; https://orcid.org/0000-0002-4324-0536, Arnold, Paul D; https://orcid.org/0000-0003-2496-4624, Balachander, Srinivas, Banaj, Nerisa; https://orcid.org/0000-0002-6317-8549, Bargalló, Nuria, Batistuzzo, Marcelo C; https://orcid.org/0000-0003-1347-8241, Benedetti, Francesco; https://orcid.org/0000-0003-4949-856X, Bertolín, Sara; https://orcid.org/0000-0003-1468-7862, Beucke, Jan Carl, Bollettini, Irene; https://orcid.org/0000-0003-3666-3538, Brem, Silvia; https://orcid.org/0000-0002-8031-1305, Brennan, Brian P; https://orcid.org/0000-0001-5468-6552, Buitelaar, Jan K; https://orcid.org/0000-0001-8288-7757, Calvo, Rosa; https://orcid.org/0000-0001-9572-4228, Castelo-Branco, Miguel, Cheng, Yuqi, Chhatkuli, Ritu Bhusal, Ciullo, Valentina; https://orcid.org/0000-0002-6870-6259, Coelho, Ana, Couto, Beatriz, Dallaspezia, Sara, Ely, Benjamin A; https://orcid.org/0000-0002-3019-0090, Ferreira, Sónia, Fontaine, Martine, Fouche, Jean-Paul, Walitza, Susanne; https://orcid.org/0000-0002-8161-8683, and et al
- Abstract
White matter pathways, typically studied with diffusion tensor imaging (DTI), have been implicated in the neurobiology of obsessive-compulsive disorder (OCD). However, due to limited sample sizes and the predominance of single-site studies, the generalizability of OCD classification based on diffusion white matter estimates remains unclear. Here, we tested classification accuracy using the largest OCD DTI dataset to date, involving 1336 adult participants (690 OCD patients and 646 healthy controls) and 317 pediatric participants (175 OCD patients and 142 healthy controls) from 18 international sites within the ENIGMA OCD Working Group. We used an automatic machine learning pipeline (with feature engineering and selection, and model optimization) and examined the cross-site generalizability of the OCD classification models using leave-one-site-out cross-validation. Our models showed low-to-moderate accuracy in classifying (1) “OCD vs. healthy controls” (Adults, receiver operator characteristic-area under the curve = 57.19 ± 3.47 in the replication set; Children, 59.8 ± 7.39), (2) “unmedicated OCD vs. healthy controls” (Adults, 62.67 ± 3.84; Children, 48.51 ± 10.14), and (3) “medicated OCD vs. unmedicated OCD” (Adults, 76.72 ± 3.97; Children, 72.45 ± 8.87). There was significant site variability in model performance (cross-validated ROC AUC ranges 51.6–79.1 in adults; 35.9–63.2 in children). Machine learning interpretation showed that diffusivity measures of the corpus callosum, internal capsule, and posterior thalamic radiation contributed to the classification of OCD from HC. The classification performance appeared greater than the model trained on grey matter morphometry in the prior ENIGMA OCD study (our study includes subsamples from the morphometry study). Taken together, this study points to the meaningful multivariate patterns of white matter features relevant to the neurobiology of OCD, but with low-to-moderate classification accuracy. The OCD classification
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- 2024
32. Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS)
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Weil, Alexander G; https://orcid.org/0000-0003-4162-6096, Dimentberg, Evan; https://orcid.org/0009-0007-6315-1737, Lewis, Evan, Ibrahim, George M; https://orcid.org/0000-0001-9068-8184, Kola, Olivia, Tseng, Chi-Hong, Chen, Jia-Shu; https://orcid.org/0000-0002-4533-9476, Lin, Kao-Min, Cai, Li-Xin, Liu, Qing-Zhu, Lin, Jiu-Luan, Zhou, Wen-Jing; https://orcid.org/0000-0002-7272-6236, Mathern, Gary W, Smyth, Matthew D, O'Neill, Brent R, Dudley, Roy, Ragheb, John, Bhatia, Sanjiv, Delev, Daniel, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Zentner, Josef, Wang, Anthony C, Dorfer, Christian; https://orcid.org/0000-0002-1843-7732, Feucht, Martha; https://orcid.org/0000-0001-7691-8158, Czech, Thomas, Bollo, Robert J, Issabekov, Galymzhan, Zhu, Hongwei, Connolly, Mary, Krayenbühl, Niklaus; https://orcid.org/0000-0002-4973-7527, et al, Weil, Alexander G; https://orcid.org/0000-0003-4162-6096, Dimentberg, Evan; https://orcid.org/0009-0007-6315-1737, Lewis, Evan, Ibrahim, George M; https://orcid.org/0000-0001-9068-8184, Kola, Olivia, Tseng, Chi-Hong, Chen, Jia-Shu; https://orcid.org/0000-0002-4533-9476, Lin, Kao-Min, Cai, Li-Xin, Liu, Qing-Zhu, Lin, Jiu-Luan, Zhou, Wen-Jing; https://orcid.org/0000-0002-7272-6236, Mathern, Gary W, Smyth, Matthew D, O'Neill, Brent R, Dudley, Roy, Ragheb, John, Bhatia, Sanjiv, Delev, Daniel, Ramantani, Georgia; https://orcid.org/0000-0002-7931-2327, Zentner, Josef, Wang, Anthony C, Dorfer, Christian; https://orcid.org/0000-0002-1843-7732, Feucht, Martha; https://orcid.org/0000-0001-7691-8158, Czech, Thomas, Bollo, Robert J, Issabekov, Galymzhan, Zhu, Hongwei, Connolly, Mary, Krayenbühl, Niklaus; https://orcid.org/0000-0002-4973-7527, and et al
- Abstract
OBJECTIVES Although hemispheric surgeries are among the most effective procedures for drug-resistant epilepsy (DRE) in the pediatric population, there is a large variability in seizure outcomes at the group level. A recently developed HOPS score provides individualized estimation of likelihood of seizure freedom to complement clinical judgement. The objective of this study was to develop a freely accessible online calculator that accurately predicts the probability of seizure freedom for any patient at 1-, 2-, and 5-years post-hemispherectomy. METHODS Retrospective data of all pediatric patients with DRE and seizure outcome data from the original Hemispherectomy Outcome Prediction Scale (HOPS) study were included. The primary outcome of interest was time-to-seizure recurrence. A multivariate Cox proportional-hazards regression model was developed to predict the likelihood of post-hemispheric surgery seizure freedom at three time points (1-, 2- and 5- years) based on a combination of variables identified by clinical judgment and inferential statistics predictive of the primary outcome. The final model from this study was encoded in a publicly accessible online calculator on the International Network for Epilepsy Surgery and Treatment (iNEST) website (https://hops-calculator.com/). RESULTS The selected variables for inclusion in the final model included the five original HOPS variables (age at seizure onset, etiologic substrate, seizure semiology, prior non-hemispheric resective surgery, and contralateral fluorodeoxyglucose-positron emission tomography [FDG-PET] hypometabolism) and three additional variables (age at surgery, history of infantile spasms, and magnetic resonance imaging [MRI] lesion). Predictors of shorter time-to-seizure recurrence included younger age at seizure onset, prior resective surgery, generalized seizure semiology, FDG-PET hypometabolism contralateral to the side of surgery, contralateral MRI lesion, non-lesional MRI, non-stroke etiologies, an
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- 2024
33. Cosmogenic background simulations for neutrinoless double beta decay with the DARWIN observatory at various underground sites
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Adrover, M, Althueser, L, Andrieu, B, Angelino, E, Angevaare, J R, Antunovic, B, Aprile, E, Babicz, M, Bajpai, D, Barberio, E, Baudis, L, Bazyk, M, Wittweg, C, Volta, Giovanni, Biondi, R, Biondi, Y, Bismark, A, Ramírez García, D, Rajado Silva, M, Peres, R, Kilminster, B, Galloway, M, Budnik, R, Capelli, C, Cardoso, J M R, Chauvin, A, Cimental Chavez, A P, Cuenca Garcia, Jose Javier, Conrad, J, et al, Adrover, M, Althueser, L, Andrieu, B, Angelino, E, Angevaare, J R, Antunovic, B, Aprile, E, Babicz, M, Bajpai, D, Barberio, E, Baudis, L, Bazyk, M, Wittweg, C, Volta, Giovanni, Biondi, R, Biondi, Y, Bismark, A, Ramírez García, D, Rajado Silva, M, Peres, R, Kilminster, B, Galloway, M, Budnik, R, Capelli, C, Cardoso, J M R, Chauvin, A, Cimental Chavez, A P, Cuenca Garcia, Jose Javier, Conrad, J, and et al
- Abstract
Xenon dual-phase time projections chambers (TPCs) have proven to be a successful technology in studying physical phenomena that require low-background conditions. With $40\,\textrm{t}$ of liquid xenon (LXe) in the TPC baseline design, DARWIN will have a high sensitivity for the detection of particle dark matter, neutrinoless double beta decay ($0\upnu \upbeta \upbeta $), and axion-like particles (ALPs). Although cosmic muons are a source of background that cannot be entirely eliminated, they may be greatly diminished by placing the detector deep underground. In this study, we used Monte Carlo simulations to model the cosmogenic background expected for the DARWIN observatory at four underground laboratories: Laboratori Nazionali del Gran Sasso (LNGS), Sanford Underground Research Facility (SURF), Laboratoire Souterrain de Modane (LSM) and SNOLAB. We present here the results of simulations performed to determine the production rate of ${}^{137}$Xe, the most crucial isotope in the search for $0\upnu \upbeta \upbeta $ of ${}^{136}$Xe. Additionally, we explore the contribution that other muon-induced spallation products, such as other unstable xenon isotopes and tritium, may have on the cosmogenic background.
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- 2024
34. Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial
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Ascierto, Paolo A; https://orcid.org/0000-0002-8322-475X, Casula, Milena, Bulgarelli, Jenny; https://orcid.org/0000-0002-6551-0189, Pisano, Marina, Piccinini, Claudia, Piccin, Luisa, Cossu, Antonio, Mandalà, Mario; https://orcid.org/0000-0001-8846-8959, Ferrucci, Pier Francesco; https://orcid.org/0000-0001-6255-5851, Guidoboni, Massimo; https://orcid.org/0000-0001-7703-790X, Rutkowski, Piotr; https://orcid.org/0000-0002-8920-5429, Ferraresi, Virginia, Arance, Ana; https://orcid.org/0000-0003-2896-1957, Guida, Michele, Maiello, Evaristo, Gogas, Helen; https://orcid.org/0000-0002-0451-2885, Richtig, Erika; https://orcid.org/0000-0002-5505-6103, Fierro, Maria Teresa, Lebbe, Celeste; https://orcid.org/0000-0002-5854-7290, Helgadottir, Hildur, Queirolo, Paola, Spagnolo, Francesco, Tucci, Marco, Del Vecchio, Michele, Cao, Maria Gonzales; https://orcid.org/0000-0003-3791-540X, Minisini, Alessandro Marco, De Placido, Sabino, Sanmamed, Miguel F; https://orcid.org/0000-0002-7295-6074, Mallardo, Domenico; https://orcid.org/0000-0002-1081-5313, Dummer, Reinhard; https://orcid.org/0000-0002-2279-6906, et al, Ascierto, Paolo A; https://orcid.org/0000-0002-8322-475X, Casula, Milena, Bulgarelli, Jenny; https://orcid.org/0000-0002-6551-0189, Pisano, Marina, Piccinini, Claudia, Piccin, Luisa, Cossu, Antonio, Mandalà, Mario; https://orcid.org/0000-0001-8846-8959, Ferrucci, Pier Francesco; https://orcid.org/0000-0001-6255-5851, Guidoboni, Massimo; https://orcid.org/0000-0001-7703-790X, Rutkowski, Piotr; https://orcid.org/0000-0002-8920-5429, Ferraresi, Virginia, Arance, Ana; https://orcid.org/0000-0003-2896-1957, Guida, Michele, Maiello, Evaristo, Gogas, Helen; https://orcid.org/0000-0002-0451-2885, Richtig, Erika; https://orcid.org/0000-0002-5505-6103, Fierro, Maria Teresa, Lebbe, Celeste; https://orcid.org/0000-0002-5854-7290, Helgadottir, Hildur, Queirolo, Paola, Spagnolo, Francesco, Tucci, Marco, Del Vecchio, Michele, Cao, Maria Gonzales; https://orcid.org/0000-0003-3791-540X, Minisini, Alessandro Marco, De Placido, Sabino, Sanmamed, Miguel F; https://orcid.org/0000-0002-7295-6074, Mallardo, Domenico; https://orcid.org/0000-0002-1081-5313, Dummer, Reinhard; https://orcid.org/0000-0002-2279-6906, and et al
- Abstract
No prospective data were available prior to 2021 to inform selection between combination BRAF and MEK inhibition versus dual blockade of programmed cell death protein-1 (PD-1) and cytotoxic T lymphocyte antigen-4 (CTLA-4) as first-line treatment options for BRAFV600-mutant melanoma. SECOMBIT (NCT02631447) was a randomized, three-arm, noncomparative phase II trial in which patients were randomized to one of two sequences with immunotherapy or targeted therapy first, with a third arm in which an 8-week induction course of targeted therapy followed by a planned switch to immunotherapy was the first treatment. BRAF/MEK inhibitors were encorafenib plus binimetinib and checkpoint inhibitors ipilimumab plus nivolumab. Primary outcome of overall survival was previously reported, demonstrating improved survival with immunotherapy administered until progression and followed by BRAF/MEK inhibition. Here we report 4-year survival outcomes, confirming long-term benefit with first-line immunotherapy. We also describe preliminary results of predefined biomarkers analyses that identify a trend toward improved 4-year overall survival and total progression-free survival in patients with loss-of-function mutations affecting JAK or low baseline levels of serum interferon gamma (IFNy). These long-term survival outcomes confirm immunotherapy as the preferred first-line treatment approach for most patients with BRAFV600-mutant metastatic melanoma, and the biomarker analyses are hypothesis-generating for future investigations of predictors of durable benefit with dual checkpoint blockade and targeted therapy.
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- 2024
35. YSF talk: Search for new physics in top quark production with additional leptons using the framework of effective field theory
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CMS Collaboration: Canelli, Maria Florencia, Kilminster, Benjamin, Caminada, Lea, Botta, Cristina, Baertschi, Pascal, Bevilacqua, Tiziano, Brzhechko, Danyyl, Cormier, Kyle, Wit, Adinda, Del Burgo, Riccardo, Heikkilae, Jaana, Huwiler, Marc, Jin, Weijie, Jofrehei, Arash, Leontsinis, Stefanos, Liechti, Sascha, Macchiolo, Anna, Meiring, Peter, Missiroli, Marino, Mikuni, Vinicius, Molinatti, Umberto, Neutelings, Izaak, Noehte, Lars, Reimers, Arne, Robmann, Peter, Sanchez Cruz, Sergio; https://orcid.org/0000-0002-9991-195X, Schweiger, Korbinian; https://orcid.org/0000-0002-5846-3919, Senger, Matias; https://orcid.org/0000-0002-1992-5711, Takahashi, Yuta; https://orcid.org/0000-0001-5184-2265, et al, CMS Collaboration: Canelli, Maria Florencia, Kilminster, Benjamin, Caminada, Lea, Botta, Cristina, Baertschi, Pascal, Bevilacqua, Tiziano, Brzhechko, Danyyl, Cormier, Kyle, Wit, Adinda, Del Burgo, Riccardo, Heikkilae, Jaana, Huwiler, Marc, Jin, Weijie, Jofrehei, Arash, Leontsinis, Stefanos, Liechti, Sascha, Macchiolo, Anna, Meiring, Peter, Missiroli, Marino, Mikuni, Vinicius, Molinatti, Umberto, Neutelings, Izaak, Noehte, Lars, Reimers, Arne, Robmann, Peter, Sanchez Cruz, Sergio; https://orcid.org/0000-0002-9991-195X, Schweiger, Korbinian; https://orcid.org/0000-0002-5846-3919, Senger, Matias; https://orcid.org/0000-0002-1992-5711, Takahashi, Yuta; https://orcid.org/0000-0001-5184-2265, and et al
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- 2024
36. The epigenetic evolution of glioma is determined by the IDH1 mutation status and treatment regimen
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Malta, Tathiane M; https://orcid.org/0000-0003-1129-5791, Sabedot, Thais S; https://orcid.org/0000-0002-7813-483X, Morosini, Natalia S; https://orcid.org/0000-0002-9294-9461, Datta, Indrani; https://orcid.org/0000-0001-7548-9881, Garofano, Luciano; https://orcid.org/0000-0001-8582-0865, Vallentgoed, Wies R; https://orcid.org/0000-0001-6373-7710, Varn, Frederick S; https://orcid.org/0000-0001-6307-016X, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, D'Angelo, Fulvio; https://orcid.org/0000-0002-4940-4693, Bakas, Spyridon; https://orcid.org/0000-0001-8734-6482, Barnholtz-Sloan, Jill S; https://orcid.org/0000-0001-6190-9304, Gan, Hui K; https://orcid.org/0000-0001-7319-8546, Hasanain, Mohammad; https://orcid.org/0000-0001-5207-101X, Hau, Ann-Christin; https://orcid.org/0000-0002-4412-2355, Johnson, Kevin C; https://orcid.org/0000-0003-0016-5158, Cazacu, Simona; https://orcid.org/0000-0002-6085-4177, deCarvalho, Ana C; https://orcid.org/0000-0003-1183-4548, Khasraw, Mustafa; https://orcid.org/0000-0003-3249-9849, Kocakavuk, Emre; https://orcid.org/0000-0003-1920-0494, Kouwenhoven, Mathilde C M; https://orcid.org/0000-0001-5252-4365, Migliozzi, Simona; https://orcid.org/0000-0002-4870-8943, Niclou, Simone P; https://orcid.org/0000-0002-3417-9534, Niers, Johanna M; https://orcid.org/0000-0002-0366-8247, Ormond, D Ryan; https://orcid.org/0000-0001-7027-2915, Paek, Sun Ha; https://orcid.org/0000-0003-3007-8653, Reifenberger, Guido; https://orcid.org/0000-0002-1419-9837, Sillevis Smitt, Peter A; https://orcid.org/0000-0001-8044-6798, Smits, Marion; https://orcid.org/0000-0001-5563-2871, Weiss, Tobias; https://orcid.org/0000-0002-5533-9429, Weller, Michael; https://orcid.org/0000-0002-1748-174X, et al, Malta, Tathiane M; https://orcid.org/0000-0003-1129-5791, Sabedot, Thais S; https://orcid.org/0000-0002-7813-483X, Morosini, Natalia S; https://orcid.org/0000-0002-9294-9461, Datta, Indrani; https://orcid.org/0000-0001-7548-9881, Garofano, Luciano; https://orcid.org/0000-0001-8582-0865, Vallentgoed, Wies R; https://orcid.org/0000-0001-6373-7710, Varn, Frederick S; https://orcid.org/0000-0001-6307-016X, Aldape, Kenneth; https://orcid.org/0000-0001-5119-7550, D'Angelo, Fulvio; https://orcid.org/0000-0002-4940-4693, Bakas, Spyridon; https://orcid.org/0000-0001-8734-6482, Barnholtz-Sloan, Jill S; https://orcid.org/0000-0001-6190-9304, Gan, Hui K; https://orcid.org/0000-0001-7319-8546, Hasanain, Mohammad; https://orcid.org/0000-0001-5207-101X, Hau, Ann-Christin; https://orcid.org/0000-0002-4412-2355, Johnson, Kevin C; https://orcid.org/0000-0003-0016-5158, Cazacu, Simona; https://orcid.org/0000-0002-6085-4177, deCarvalho, Ana C; https://orcid.org/0000-0003-1183-4548, Khasraw, Mustafa; https://orcid.org/0000-0003-3249-9849, Kocakavuk, Emre; https://orcid.org/0000-0003-1920-0494, Kouwenhoven, Mathilde C M; https://orcid.org/0000-0001-5252-4365, Migliozzi, Simona; https://orcid.org/0000-0002-4870-8943, Niclou, Simone P; https://orcid.org/0000-0002-3417-9534, Niers, Johanna M; https://orcid.org/0000-0002-0366-8247, Ormond, D Ryan; https://orcid.org/0000-0001-7027-2915, Paek, Sun Ha; https://orcid.org/0000-0003-3007-8653, Reifenberger, Guido; https://orcid.org/0000-0002-1419-9837, Sillevis Smitt, Peter A; https://orcid.org/0000-0001-8044-6798, Smits, Marion; https://orcid.org/0000-0001-5563-2871, Weiss, Tobias; https://orcid.org/0000-0002-5533-9429, Weller, Michael; https://orcid.org/0000-0002-1748-174X, and et al
- Abstract
Tumor adaptation or selection is thought to underlie therapy resistance in glioma. To investigate longitudinal epigenetic evolution of gliomas in response to therapeutic pressure, we performed an epigenomic analysis of 132 matched initial and recurrent tumors from patients with IDH-wildtype (IDHwt) and IDH-mutant (IDHmut) glioma. IDHwt gliomas showed a stable epigenome over time with relatively low levels of global methylation. The epigenome of IDHmut gliomas showed initial high levels of genome-wide DNA methylation that was progressively reduced to levels similar to those of IDHwt tumors. Integration of epigenomics, gene expression, and functional genomics identified HOXD13 as a master regulator of IDHmut astrocytoma evolution. Furthermore, relapse of IDHmut tumors was accompanied by histological progression that was associated with survival, as validated in an independent cohort. Finally, the initial cell composition of the tumor microenvironment varied between IDHwt and IDHmut tumors and changed differentially following treatment, suggesting increased neo-angiogenesis and T-cell infiltration upon treatment of IDHmut gliomas. This study provides one of the largest cohorts of paired longitudinal glioma samples with epigenomic, transcriptomic, and genomic profiling and suggests that treatment of IDHmut glioma is associated with epigenomic evolution towards an IDHwt-like phenotype.
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- 2024
37. Where is VALDO? VAscular Lesions Detection and segmentatiOn challenge at MICCAI 2021
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Sudre, Carole H; https://orcid.org/0000-0001-5753-428X, Van Wijnen, Kimberlin, Dubost, Florian, Adams, Hieab, Atkinson, David, Barkhof, Frederik, Birhanu, Mahlet A, Bron, Esther E, Camarasa, Robin, Chaturvedi, Nish, Chen, Yuan, Chen, Zihao, Chen, Shuai, Dou, Qi, Evans, Tavia, Ezhov, Ivan, Gao, Haojun, Girones Sanguesa, Marta, Gispert, Juan Domingo, Gomez Anson, Beatriz, Hughes, Alun D, Ikram, M Arfan, Ingala, Silvia, Jaeger, H Rolf, Kofler, Florian, Kuijf, Hugo J, Kutnar, Denis, Lee, Minho, Li, Bo, Lorenzini, Luigi, et al, Sudre, Carole H; https://orcid.org/0000-0001-5753-428X, Van Wijnen, Kimberlin, Dubost, Florian, Adams, Hieab, Atkinson, David, Barkhof, Frederik, Birhanu, Mahlet A, Bron, Esther E, Camarasa, Robin, Chaturvedi, Nish, Chen, Yuan, Chen, Zihao, Chen, Shuai, Dou, Qi, Evans, Tavia, Ezhov, Ivan, Gao, Haojun, Girones Sanguesa, Marta, Gispert, Juan Domingo, Gomez Anson, Beatriz, Hughes, Alun D, Ikram, M Arfan, Ingala, Silvia, Jaeger, H Rolf, Kofler, Florian, Kuijf, Hugo J, Kutnar, Denis, Lee, Minho, Li, Bo, Lorenzini, Luigi, and et al
- Abstract
Imaging markers of cerebral small vessel disease provide valuable information on brain health, but their manual assessment is time-consuming and hampered by substantial intra- and interrater variability. Automated rating may benefit biomedical research, as well as clinical assessment, but diagnostic reliability of existing algorithms is unknown. Here, we present the results of the VAscular Lesions DetectiOn and Segmentation (Where is VALDO?) challenge that was run as a satellite event at the international conference on Medical Image Computing and Computer Aided Intervention (MICCAI) 2021. This challenge aimed to promote the development of methods for automated detection and segmentation of small and sparse imaging markers of cerebral small vessel disease, namely enlarged perivascular spaces (EPVS) (Task 1), cerebral microbleeds (Task 2) and lacunes of presumed vascular origin (Task 3) while leveraging weak and noisy labels. Overall, 12 teams participated in the challenge proposing solutions for one or more tasks (4 for Task 1-EPVS, 9 for Task 2-Microbleeds and 6 for Task 3-Lacunes). Multi-cohort data was used in both training and evaluation. Results showed a large variability in performance both across teams and across tasks, with promising results notably for Task 1-EPVS and Task 2-Microbleeds and not practically useful results yet for Task 3-Lacunes. It also highlighted the performance inconsistency across cases that may deter use at an individual level, while still proving useful at a population level.
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- 2024
38. W, Z, and QCD
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CMS Collaboration: Canelli, Maria Florencia, Kilminster, Benjamin; https://orcid.org/0000-0002-6657-0407, Caminada, Lea, Botta, Cristina; https://orcid.org/0000-0002-8072-795X, Baertschi, Pascal, Bevilacqua, Tiziano, Brzhechko, Danyyl, Cormier, Kyle, Wit, Adinda, Del Burgo, Riccardo, Heikkilae, Jaana, Huwiler, Marc, Jin, Weijie, Jofrehei, Arash, Leontsinis, Stefanos, Liechti, Sascha, Macchiolo, Anna, Meiring, Peter, Missiroli, Marino, Mikuni, Vinicius, Molinatti, Umberto, Neutelings, Izaak, Noehte, Lars, Reimers, Arne, Robmann, Peter, Sanchez Cruz, Sergio, Schweiger, Korbinian, Senger, Matias, Takahashi, Yuta, et al, CMS Collaboration: Canelli, Maria Florencia, Kilminster, Benjamin; https://orcid.org/0000-0002-6657-0407, Caminada, Lea, Botta, Cristina; https://orcid.org/0000-0002-8072-795X, Baertschi, Pascal, Bevilacqua, Tiziano, Brzhechko, Danyyl, Cormier, Kyle, Wit, Adinda, Del Burgo, Riccardo, Heikkilae, Jaana, Huwiler, Marc, Jin, Weijie, Jofrehei, Arash, Leontsinis, Stefanos, Liechti, Sascha, Macchiolo, Anna, Meiring, Peter, Missiroli, Marino, Mikuni, Vinicius, Molinatti, Umberto, Neutelings, Izaak, Noehte, Lars, Reimers, Arne, Robmann, Peter, Sanchez Cruz, Sergio, Schweiger, Korbinian, Senger, Matias, Takahashi, Yuta, and et al
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- 2024
39. Connectome architecture shapes large-scale cortical alterations in schizophrenia: a worldwide ENIGMA study
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Georgiadis, Foivos; https://orcid.org/0000-0001-8784-9653, Larivière, Sara, Glahn, David, Hong, L Elliot, Kochunov, Peter, Mowry, Bryan; https://orcid.org/0000-0002-4115-5645, Loughland, Carmel, Pantelis, Christos; https://orcid.org/0000-0002-9565-0238, Henskens, Frans A; https://orcid.org/0000-0003-2358-5630, Green, Melissa J; https://orcid.org/0000-0002-9361-4874, Cairns, Murray J; https://orcid.org/0000-0003-2490-2538, Michie, Patricia T; https://orcid.org/0000-0002-4169-8519, Rasser, Paul E, Catts, Stanley, Tooney, Paul; https://orcid.org/0000-0003-3745-4367, Scott, Rodney J; https://orcid.org/0000-0001-7724-3404, Schall, Ulrich, Carr, Vaughan; https://orcid.org/0000-0002-8907-5804, Quidé, Yann; https://orcid.org/0000-0002-8569-7139, Krug, Axel; https://orcid.org/0000-0002-0564-2497, Stein, Frederike, Nenadić, Igor; https://orcid.org/0000-0002-0749-7473, Brosch, Katharina; https://orcid.org/0000-0002-0526-8095, Ji, Ellen; https://orcid.org/0000-0003-1527-8868, Homan, Stephanie; https://orcid.org/0000-0003-1449-7508, Omlor, Wolfgang, Homan, Philipp; https://orcid.org/0000-0001-9034-148X, Seifritz, Erich; https://orcid.org/0000-0002-7311-4426, ENIGMA Schizophrenia Consortium, Kirschner, Matthias; https://orcid.org/0000-0002-9486-1439, et al, Georgiadis, Foivos; https://orcid.org/0000-0001-8784-9653, Larivière, Sara, Glahn, David, Hong, L Elliot, Kochunov, Peter, Mowry, Bryan; https://orcid.org/0000-0002-4115-5645, Loughland, Carmel, Pantelis, Christos; https://orcid.org/0000-0002-9565-0238, Henskens, Frans A; https://orcid.org/0000-0003-2358-5630, Green, Melissa J; https://orcid.org/0000-0002-9361-4874, Cairns, Murray J; https://orcid.org/0000-0003-2490-2538, Michie, Patricia T; https://orcid.org/0000-0002-4169-8519, Rasser, Paul E, Catts, Stanley, Tooney, Paul; https://orcid.org/0000-0003-3745-4367, Scott, Rodney J; https://orcid.org/0000-0001-7724-3404, Schall, Ulrich, Carr, Vaughan; https://orcid.org/0000-0002-8907-5804, Quidé, Yann; https://orcid.org/0000-0002-8569-7139, Krug, Axel; https://orcid.org/0000-0002-0564-2497, Stein, Frederike, Nenadić, Igor; https://orcid.org/0000-0002-0749-7473, Brosch, Katharina; https://orcid.org/0000-0002-0526-8095, Ji, Ellen; https://orcid.org/0000-0003-1527-8868, Homan, Stephanie; https://orcid.org/0000-0003-1449-7508, Omlor, Wolfgang, Homan, Philipp; https://orcid.org/0000-0001-9034-148X, Seifritz, Erich; https://orcid.org/0000-0002-7311-4426, ENIGMA Schizophrenia Consortium, Kirschner, Matthias; https://orcid.org/0000-0002-9486-1439, and et al
- Abstract
Schizophrenia is a prototypical network disorder with widespread brain-morphological alterations, yet it remains unclear whether these distributed alterations robustly reflect the underlying network layout. We tested whether large-scale structural alterations in schizophrenia relate to normative structural and functional connectome architecture, and systematically evaluated robustness and generalizability of these network-level alterations. Leveraging anatomical MRI scans from 2439 adults with schizophrenia and 2867 healthy controls from 26 ENIGMA sites and normative data from the Human Connectome Project (n = 207), we evaluated structural alterations of schizophrenia against two network susceptibility models: (i) hub vulnerability, which examines associations between regional network centrality and magnitude of disease-related alterations; (ii) epicenter mapping, which identifies regions whose typical connectivity profile most closely resembles the disease-related morphological alterations. To assess generalizability and specificity, we contextualized the influence of site, disease stages, and individual clinical factors and compared network associations of schizophrenia with that found in affective disorders. Our findings show schizophrenia-related cortical thinning is spatially associated with functional and structural hubs, suggesting that highly interconnected regions are more vulnerable to morphological alterations. Predominantly temporo-paralimbic and frontal regions emerged as epicenters with connectivity profiles linked to schizophrenia's alteration patterns. Findings were robust across sites, disease stages, and related to individual symptoms. Moreover, transdiagnostic comparisons revealed overlapping epicenters in schizophrenia and bipolar, but not major depressive disorder, suggestive of a pathophysiological continuity within the schizophrenia-bipolar-spectrum. In sum, cortical alterations over the course of schizophrenia robustly follow brain network ar
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- 2024
40. Global benchmarks in primary robotic bariatric surgery redefine quality standards for Roux-en-Y gastric bypass and sleeve gastrectomy
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Giudicelli, Guillaume; https://orcid.org/0000-0002-0213-9335, Gero, Daniel; https://orcid.org/0000-0003-2941-9801, Romulo, Lind, Chirumamilla, Vasu, Iranmanesh, Pouya; https://orcid.org/0000-0002-6963-1164, Owen, Christopher K, Bauerle, Wayne, Garcia, Amador, Lucas, Lisa, Mehdorn, Anne-Sophie, Pandey, Dhananjay, Almuttawa, Abdullah, Cabral, Francisco, Tiwari, Abhishek, Lambert, Virginia, Pascotto, Beniamino, De Meyere, Celine, Yahyaoui, Marouan, Haist, Thomas, Scheffel, Oliver, Robert, Maud, Nuytens, Frederiek, Azagra, Santiago, Kow, Lilian, Prasad, Arun, Vaz, Carlos, Vix, Michel, Clavien, Pierre-Alain; https://orcid.org/0000-0002-9916-7905, Puhan, Milo; https://orcid.org/0000-0001-7284-1317, Bueter, Marco; https://orcid.org/0000-0002-1391-0842, et al, Giudicelli, Guillaume; https://orcid.org/0000-0002-0213-9335, Gero, Daniel; https://orcid.org/0000-0003-2941-9801, Romulo, Lind, Chirumamilla, Vasu, Iranmanesh, Pouya; https://orcid.org/0000-0002-6963-1164, Owen, Christopher K, Bauerle, Wayne, Garcia, Amador, Lucas, Lisa, Mehdorn, Anne-Sophie, Pandey, Dhananjay, Almuttawa, Abdullah, Cabral, Francisco, Tiwari, Abhishek, Lambert, Virginia, Pascotto, Beniamino, De Meyere, Celine, Yahyaoui, Marouan, Haist, Thomas, Scheffel, Oliver, Robert, Maud, Nuytens, Frederiek, Azagra, Santiago, Kow, Lilian, Prasad, Arun, Vaz, Carlos, Vix, Michel, Clavien, Pierre-Alain; https://orcid.org/0000-0002-9916-7905, Puhan, Milo; https://orcid.org/0000-0001-7284-1317, Bueter, Marco; https://orcid.org/0000-0002-1391-0842, and et al
- Abstract
BACKGROUND Whether the benefits of the robotic platform in bariatric surgery translate into superior surgical outcomes remains unclear. The aim of this retrospective study was to establish the 'best possible' outcomes for robotic bariatric surgery and compare them with the established laparoscopic benchmarks. METHODS Benchmark cut-offs were established for consecutive primary robotic bariatric surgery patients of 17 centres across four continents (13 expert centres and 4 learning phase centres) using the 75th percentile of the median outcome values until 90 days after surgery. The benchmark patients had no previous laparotomy, diabetes, sleep apnoea, cardiopathy, renal insufficiency, inflammatory bowel disease, immunosuppression, history of thromboembolic events, BMI greater than 50 kg/m2, or age greater than 65 years. RESULTS A total of 9097 patients were included, who were mainly female (75.5%) and who had a mean(s.d.) age of 44.7(11.5) years and a mean(s.d.) baseline BMI of 44.6(7.7) kg/m2. In expert centres, 13.74% of the 3020 patients who underwent primary robotic Roux-en-Y gastric bypass and 5.9% of the 4078 patients who underwent primary robotic sleeve gastrectomy presented with greater than or equal to one complication within 90 postoperative days. No patient died and 1.1% of patients had adverse events related to the robotic platform. When compared with laparoscopic benchmarks, robotic Roux-en-Y gastric bypass had lower benchmark cut-offs for hospital stay, postoperative bleeding, and marginal ulceration, but the duration of the operation was 42 min longer. For most surgical outcomes, robotic sleeve gastrectomy outperformed laparoscopic sleeve gastrectomy with a comparable duration of the operation. In robotic learning phase centres, outcomes were within the established benchmarks only for low-risk robotic Roux-en-Y gastric bypass. CONCLUSION The newly established benchmarks suggest that robotic bariatric surgery may enhance surgical safety compared with la
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- 2024
41. Euclid Preparation TBD. Characterization of convolutional neural networks for the identification of galaxy-galaxy strong lensing events
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Leuzzi, L, Meneghetti, M; https://orcid.org/0000-0003-1225-7084, Angora, G; https://orcid.org/0000-0002-0316-6562, Metcalf, R B; https://orcid.org/0000-0003-3167-2574, Moscardini, L; https://orcid.org/0000-0002-3473-6716, Rosati, P; https://orcid.org/0000-0002-6813-0632, Bergamini, P; https://orcid.org/0000-0003-1383-9414, Calura, F; https://orcid.org/0000-0002-6175-0871, Clément, B; https://orcid.org/0000-0002-7966-3661, Gavazzi, R; https://orcid.org/0000-0002-5540-6935, Gentile, F; https://orcid.org/0000-0002-8008-9871, Lochner, M; https://orcid.org/0000-0003-2221-8281, Grillo, C; https://orcid.org/0000-0002-5926-7143, Vernardos, G; https://orcid.org/0000-0001-8554-7248, Aghanim, N, Amara, A, Amendola, L; https://orcid.org/0000-0002-0835-233X, Auricchio, N; https://orcid.org/0000-0003-4444-8651, Bodendorf, C, Bonino, D, Branchini, E; https://orcid.org/0000-0002-0808-6908, Brescia, M; https://orcid.org/0000-0001-9506-5680, Brinchmann, J; https://orcid.org/0000-0003-4359-8797, Camera, S; https://orcid.org/0000-0003-3399-3574, Capobianco, V; https://orcid.org/0000-0002-3309-7692, Carbone, C; https://orcid.org/0000-0003-0125-3563, Carretero, J; https://orcid.org/0000-0002-3130-0204, Castellano, M; https://orcid.org/0000-0001-9875-8263, Cavuoti, S; https://orcid.org/0000-0002-3787-4196, et al, Leuzzi, L, Meneghetti, M; https://orcid.org/0000-0003-1225-7084, Angora, G; https://orcid.org/0000-0002-0316-6562, Metcalf, R B; https://orcid.org/0000-0003-3167-2574, Moscardini, L; https://orcid.org/0000-0002-3473-6716, Rosati, P; https://orcid.org/0000-0002-6813-0632, Bergamini, P; https://orcid.org/0000-0003-1383-9414, Calura, F; https://orcid.org/0000-0002-6175-0871, Clément, B; https://orcid.org/0000-0002-7966-3661, Gavazzi, R; https://orcid.org/0000-0002-5540-6935, Gentile, F; https://orcid.org/0000-0002-8008-9871, Lochner, M; https://orcid.org/0000-0003-2221-8281, Grillo, C; https://orcid.org/0000-0002-5926-7143, Vernardos, G; https://orcid.org/0000-0001-8554-7248, Aghanim, N, Amara, A, Amendola, L; https://orcid.org/0000-0002-0835-233X, Auricchio, N; https://orcid.org/0000-0003-4444-8651, Bodendorf, C, Bonino, D, Branchini, E; https://orcid.org/0000-0002-0808-6908, Brescia, M; https://orcid.org/0000-0001-9506-5680, Brinchmann, J; https://orcid.org/0000-0003-4359-8797, Camera, S; https://orcid.org/0000-0003-3399-3574, Capobianco, V; https://orcid.org/0000-0002-3309-7692, Carbone, C; https://orcid.org/0000-0003-0125-3563, Carretero, J; https://orcid.org/0000-0002-3130-0204, Castellano, M; https://orcid.org/0000-0001-9875-8263, Cavuoti, S; https://orcid.org/0000-0002-3787-4196, and et al
- Abstract
Forthcoming imaging surveys will increase the number of known galaxy-scale strong lenses by several orders of magnitude. For this to happen, images of billions of galaxies will have to be inspected to identify potential candidates. In this context, deep-learning techniques are particularly suitable for finding patterns in large data sets, and convolutional neural networks (CNNs) in particular can efficiently process large volumes of images. We assess and compare the performance of three network architectures in the classification of strong-lensing systems on the basis of their morphological characteristics. In particular, we implemented a classical CNN architecture, an inception network, and a residual network. We trained and tested our networks on different subsamples of a data set of 40 000 mock images whose characteristics were similar to those expected in the wide survey planned with the ESA mission Euclid, gradually including larger fractions of faint lenses. We also evaluated the importance of adding information about the color difference between the lens and source galaxies by repeating the same training on single- and multiband images. Our models find samples of clear lenses with ≳90% precision and completeness. Nevertheless, when lenses with fainter arcs are included in the training set, the performance of the three models deteriorates with accuracy values of ~0.87 to ~0.75, depending on the model. Specifically, the classical CNN and the inception network perform similarly in most of our tests, while the residual network generally produces worse results. Our analysis focuses on the application of CNNs to high-resolution space-like images, such as those that the Euclid telescope will deliver. Moreover, we investigated the optimal training strategy for this specific survey to fully exploit the scientific potential of the upcoming observations. We suggest that training the networks separately on lenses with different morphology might be needed to identify the
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- 2024
42. Impact of sex and gender on post-COVID-19 syndrome, Switzerland, 2020
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Gebhard, Caroline E, Sütsch, Claudia, Gebert, Pimrapat, Gysi, Bianca, Bengs, Susan, Todorov, Atanas, Deforth, Manja, Buehler, Philipp K, Meisel, Alexander, Schuepbach, Reto A, Zinkernagel, Annelies S, Brugger, Silvio D, Acevedo, Claudio, Patriki, Dimitri, Wiggli, Benedikt, Beer, Jürg H, Friedl, Andrée, Twerenbold, Raphael, Kuster, Gabriela M, Pargger, Hans, Tschudin-Sutter, Sarah, Schefold, Joerg C, Spinetti, Thibaud, Henze, Chiara, Pasqualini, Mina, Sager, Dominik F, Mayrhofer, Lilian, Grieder, Mirjam, Tontsch, Janna, Franzeck, Fabian C, et al, Gebhard, Caroline E, Sütsch, Claudia, Gebert, Pimrapat, Gysi, Bianca, Bengs, Susan, Todorov, Atanas, Deforth, Manja, Buehler, Philipp K, Meisel, Alexander, Schuepbach, Reto A, Zinkernagel, Annelies S, Brugger, Silvio D, Acevedo, Claudio, Patriki, Dimitri, Wiggli, Benedikt, Beer, Jürg H, Friedl, Andrée, Twerenbold, Raphael, Kuster, Gabriela M, Pargger, Hans, Tschudin-Sutter, Sarah, Schefold, Joerg C, Spinetti, Thibaud, Henze, Chiara, Pasqualini, Mina, Sager, Dominik F, Mayrhofer, Lilian, Grieder, Mirjam, Tontsch, Janna, Franzeck, Fabian C, and et al
- Abstract
Background: Women are overrepresented among individuals with post-acute sequelae of SARS-CoV-2 infection (PASC). Biological (sex) as well as sociocultural (gender) differences between women and men might account for this imbalance, yet their impact on PASC is unknown. Aim: We assessed the impact of sex and gender on PASC in a Swiss population. Method: Our multicentre prospective cohort study included 2,856 (46% women, mean age 44.2 ± 16.8 years) outpatients and hospitalised patients with PCR-confirmed SARS-CoV-2 infection.ResultsAmong those who remained outpatients during their first infection, women reported persisting symptoms more often than men (40.5% vs 25.5% of men; p < 0.001). This sex difference was absent in hospitalised patients. In a crude analysis, both female biological sex (RR = 1.59; 95% CI: 1.41-1.79; p < 0.001) and a score summarising gendered sociocultural variables (RR = 1.05; 95% CI: 1.03-1.07; p < 0.001) were significantly associated with PASC. Following multivariable adjustment, biological female sex (RR = 0.96; 95% CI: 0.74-1.25; p = 0.763) was outperformed by feminine gender-related factors such as a higher stress level (RR = 1.04; 95% CI: 1.01-1.06; p = 0.003), lower education (RR = 1.16; 95% CI: 1.03-1.30; p = 0.011), being female and living alone (RR = 1.91; 95% CI: 1.29-2.83; p = 0.001) or being male and earning the highest income in the household (RR = 0.76; 95% CI: 0.60-0.97; p = 0.030). Conclusion: Specific sociocultural parameters that differ in prevalence between women and men, or imply a unique risk for women, are predictors of PASC and may explain, at least in part, the higher incidence of PASC in women. Once patients are hospitalised during acute infection, sex differences in PASC are no longer evident.
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- 2024
43. A synthesis of evidence for policy from behavioural science during COVID-19
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Ruggeri, Kai; https://orcid.org/0000-0002-8470-101X, Stock, Friederike, Haslam, S Alexander; https://orcid.org/0000-0001-9523-7921, Capraro, Valerio; https://orcid.org/0000-0002-0579-0166, Boggio, Paulo, Ellemers, Naomi; https://orcid.org/0000-0001-9810-1165, Cichocka, Aleksandra, Douglas, Karen M; https://orcid.org/0000-0002-0381-6924, Rand, David G; https://orcid.org/0000-0001-8975-2783, van der Linden, Sander; https://orcid.org/0000-0002-0269-1744, Cikara, Mina; https://orcid.org/0000-0002-6612-4474, Finkel, Eli J; https://orcid.org/0000-0002-0213-5318, Druckman, James N; https://orcid.org/0000-0002-1249-6790, Wohl, Michael J A; https://orcid.org/0000-0001-6945-5562, Petty, Richard E; https://orcid.org/0000-0002-2870-8575, Tucker, Joshua A; https://orcid.org/0000-0003-1321-8650, Shariff, Azim; https://orcid.org/0000-0003-4444-460X, Gelfand, Michele, Packer, Dominic; https://orcid.org/0000-0001-8420-6548, Jetten, Jolanda, Van Lange, Paul A M; https://orcid.org/0000-0001-7774-6984, Pennycook, Gordon, Peters, Ellen; https://orcid.org/0000-0003-0702-6169, Baicker, Katherine, Crum, Alia, Weeden, Kim A; https://orcid.org/0000-0002-9975-8457, Napper, Lucy, Tabri, Nassim, Zaki, Jamil, Većkalov, Bojana; https://orcid.org/0000-0002-8477-1261, Wagner, Lisa; https://orcid.org/0000-0002-1925-2676, et al, Ruggeri, Kai; https://orcid.org/0000-0002-8470-101X, Stock, Friederike, Haslam, S Alexander; https://orcid.org/0000-0001-9523-7921, Capraro, Valerio; https://orcid.org/0000-0002-0579-0166, Boggio, Paulo, Ellemers, Naomi; https://orcid.org/0000-0001-9810-1165, Cichocka, Aleksandra, Douglas, Karen M; https://orcid.org/0000-0002-0381-6924, Rand, David G; https://orcid.org/0000-0001-8975-2783, van der Linden, Sander; https://orcid.org/0000-0002-0269-1744, Cikara, Mina; https://orcid.org/0000-0002-6612-4474, Finkel, Eli J; https://orcid.org/0000-0002-0213-5318, Druckman, James N; https://orcid.org/0000-0002-1249-6790, Wohl, Michael J A; https://orcid.org/0000-0001-6945-5562, Petty, Richard E; https://orcid.org/0000-0002-2870-8575, Tucker, Joshua A; https://orcid.org/0000-0003-1321-8650, Shariff, Azim; https://orcid.org/0000-0003-4444-460X, Gelfand, Michele, Packer, Dominic; https://orcid.org/0000-0001-8420-6548, Jetten, Jolanda, Van Lange, Paul A M; https://orcid.org/0000-0001-7774-6984, Pennycook, Gordon, Peters, Ellen; https://orcid.org/0000-0003-0702-6169, Baicker, Katherine, Crum, Alia, Weeden, Kim A; https://orcid.org/0000-0002-9975-8457, Napper, Lucy, Tabri, Nassim, Zaki, Jamil, Većkalov, Bojana; https://orcid.org/0000-0002-8477-1261, Wagner, Lisa; https://orcid.org/0000-0002-1925-2676, and et al
- Abstract
Scientific evidence regularly guides policy decisions, with behavioural science increasingly part of this process. In April 2020, an influential paper proposed 19 policy recommendations (‘claims’) detailing how evidence from behavioural science could contribute to efforts to reduce impacts and end the COVID-19 pandemic. Here we assess 747 pandemic-related research articles that empirically investigated those claims. We report the scale of evidence and whether evidence supports them to indicate applicability for policymaking. Two independent teams, involving 72 reviewers, found evidence for 18 of 19 claims, with both teams finding evidence supporting 16 (89%) of those 18 claims. The strongest evidence supported claims that anticipated culture, polarization and misinformation would be associated with policy effectiveness. Claims suggesting trusted leaders and positive social norms increased adherence to behavioural interventions also had strong empirical support, as did appealing to social consensus or bipartisan agreement. Targeted language in messaging yielded mixed effects and there were no effects for highlighting individual benefits or protecting others. No available evidence existed to assess any distinct differences in effects between using the terms ‘physical distancing’ and ‘social distancing’. Analysis of 463 papers containing data showed generally large samples; 418 involved human participants with a mean of 16,848 (median of 1,699). That statistical power underscored improved suitability of behavioural science research for informing policy decisions. Furthermore, by implementing a standardized approach to evidence selection and synthesis, we amplify broader implications for advancing scientific evidence in policy formulation and prioritization.
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- 2024
44. Mobilise-D insights to estimate real-world walking speed in multiple conditions with a wearable device
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Kirk, Cameron, Küderle, Arne, Micó-Amigo, M Encarna, Bonci, Tecla; https://orcid.org/0000-0002-8255-4730, Paraschiv-Ionescu, Anisoara, Ullrich, Martin; https://orcid.org/0000-0001-6104-6676, Soltani, Abolfazl, Gazit, Eran, Salis, Francesca; https://orcid.org/0000-0003-1380-6014, Alcock, Lisa, Aminian, Kamiar; https://orcid.org/0000-0002-6582-5375, Becker, Clemens, Bertuletti, Stefano; https://orcid.org/0000-0002-0450-9141, Brown, Philip, Buckley, Ellen; https://orcid.org/0000-0002-0968-6286, Cantu, Alma, Carsin, Anne-Elie, Caruso, Marco, Caulfield, Brian, Cereatti, Andrea, Chiari, Lorenzo, D'Ascanio, Ilaria, Garcia-Aymerich, Judith; https://orcid.org/0000-0002-7097-4586, Hansen, Clint, Mobilise-D consortium, Koch, Sarah; https://orcid.org/0000-0001-9461-8407, Puhan, Milo A; https://orcid.org/0000-0001-7284-1317, Frei, Anja; https://orcid.org/0000-0002-7134-1000, et al, Kirk, Cameron, Küderle, Arne, Micó-Amigo, M Encarna, Bonci, Tecla; https://orcid.org/0000-0002-8255-4730, Paraschiv-Ionescu, Anisoara, Ullrich, Martin; https://orcid.org/0000-0001-6104-6676, Soltani, Abolfazl, Gazit, Eran, Salis, Francesca; https://orcid.org/0000-0003-1380-6014, Alcock, Lisa, Aminian, Kamiar; https://orcid.org/0000-0002-6582-5375, Becker, Clemens, Bertuletti, Stefano; https://orcid.org/0000-0002-0450-9141, Brown, Philip, Buckley, Ellen; https://orcid.org/0000-0002-0968-6286, Cantu, Alma, Carsin, Anne-Elie, Caruso, Marco, Caulfield, Brian, Cereatti, Andrea, Chiari, Lorenzo, D'Ascanio, Ilaria, Garcia-Aymerich, Judith; https://orcid.org/0000-0002-7097-4586, Hansen, Clint, Mobilise-D consortium, Koch, Sarah; https://orcid.org/0000-0001-9461-8407, Puhan, Milo A; https://orcid.org/0000-0001-7284-1317, Frei, Anja; https://orcid.org/0000-0002-7134-1000, and et al
- Abstract
This study aimed to validate a wearable device's walking speed estimation pipeline, considering complexity, speed, and walking bout duration. The goal was to provide recommendations on the use of wearable devices for real-world mobility analysis. Participants with Parkinson's Disease, Multiple Sclerosis, Proximal Femoral Fracture, Chronic Obstructive Pulmonary Disease, Congestive Heart Failure, and healthy older adults (n = 97) were monitored in the laboratory and the real-world (2.5 h), using a lower back wearable device. Two walking speed estimation pipelines were validated across 4408/1298 (2.5 h/laboratory) detected walking bouts, compared to 4620/1365 bouts detected by a multi-sensor reference system. In the laboratory, the mean absolute error (MAE) and mean relative error (MRE) for walking speed estimation ranged from 0.06 to 0.12 m/s and - 2.1 to 14.4%, with ICCs (Intraclass correlation coefficients) between good (0.79) and excellent (0.91). Real-world MAE ranged from 0.09 to 0.13, MARE from 1.3 to 22.7%, with ICCs indicating moderate (0.57) to good (0.88) agreement. Lower errors were observed for cohorts without major gait impairments, less complex tasks, and longer walking bouts. The analytical pipelines demonstrated moderate to good accuracy in estimating walking speed. Accuracy depended on confounding factors, emphasizing the need for robust technical validation before clinical application.Trial registration: ISRCTN - 12246987.
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- 2024
45. Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project
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Wolf, Lara; https://orcid.org/0009-0008-8189-9949, Usemann, Jakob; https://orcid.org/0000-0002-9987-2866, Collaud, Eugénie, Derkenne, Marie-France, Fischer, Reta; https://orcid.org/0009-0001-6186-9637, Hensen, Maxime, Hitzler, Michael, Hofer, Markus, Inci, Demet, Irani, Sarosh, Jahn, Kathleen, Koutsokera, Angela, Kusche, Rachel, Kurowski, Thomas, Latzin, Philipp; https://orcid.org/0000-0002-5239-1571, Lin, Dagmar, Mioranza, Laurence, Moeller, Alexander; https://orcid.org/0000-0001-7284-4251, Mornand, Anne; https://orcid.org/0000-0001-9398-5723, Mueller-Suter, Dominik; https://orcid.org/0000-0001-5635-1457, Murer, Christian, Naehrlich, Lutz, Plojoux, Jérôme, Regamey, Nicolas; https://orcid.org/0000-0001-6849-6469, Rodriguez, Romy, Rochat, Isabelle; https://orcid.org/0000-0003-2818-8757, Sauty, Alain; https://orcid.org/0009-0008-7198-0815, Schuurmans, Macé, Semmler, Michaela, Trachsel, Daniel, et al, Jung, Andreas, Wolf, Lara; https://orcid.org/0009-0008-8189-9949, Usemann, Jakob; https://orcid.org/0000-0002-9987-2866, Collaud, Eugénie, Derkenne, Marie-France, Fischer, Reta; https://orcid.org/0009-0001-6186-9637, Hensen, Maxime, Hitzler, Michael, Hofer, Markus, Inci, Demet, Irani, Sarosh, Jahn, Kathleen, Koutsokera, Angela, Kusche, Rachel, Kurowski, Thomas, Latzin, Philipp; https://orcid.org/0000-0002-5239-1571, Lin, Dagmar, Mioranza, Laurence, Moeller, Alexander; https://orcid.org/0000-0001-7284-4251, Mornand, Anne; https://orcid.org/0000-0001-9398-5723, Mueller-Suter, Dominik; https://orcid.org/0000-0001-5635-1457, Murer, Christian, Naehrlich, Lutz, Plojoux, Jérôme, Regamey, Nicolas; https://orcid.org/0000-0001-6849-6469, Rodriguez, Romy, Rochat, Isabelle; https://orcid.org/0000-0003-2818-8757, Sauty, Alain; https://orcid.org/0009-0008-7198-0815, Schuurmans, Macé, Semmler, Michaela, Trachsel, Daniel, et al, and Jung, Andreas
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- 2024
46. Immune monitoring-guided vs fixed duration of antiviral prophylaxis against cytomegalovirus in solid-organ transplant recipients. A Multicenter, Randomized Clinical Trial
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Manuel, Oriol; https://orcid.org/0000-0001-7607-0943, Laager, Mirjam, Hirzel, Cédric, Neofytos, Dionysios, Walti, Laura N, Hoenger, Gideon, Binet, Isabelle, Schnyder, Aurelia, Stampf, Susanne, Koller, Michael, Mombelli, Matteo, Kim, Min Jeong, Hoffmann, Matthias, Koenig, Katrin, Hess, Christoph, Burgener, Anne-Valérie, Cippà, Pietro E; https://orcid.org/0000-0002-9507-0057, Hübel, Kerstin, Mueller, Thomas F; https://orcid.org/0000-0003-2236-2312, Sidler, Daniel, Dahdal, Suzan, Suter-Riniker, Franziska, Villard, Jean, Zbinden, Andrea; https://orcid.org/0000-0001-8328-7614, Pantaleo, Giuseppe, Semmo, Nasser, Hadaya, Karine, Enríquez, Natalia, Meylan, Pascal R, Froissart, Marc, et al, Mueller, Nicolas J; https://orcid.org/0000-0002-1059-3191, Manuel, Oriol; https://orcid.org/0000-0001-7607-0943, Laager, Mirjam, Hirzel, Cédric, Neofytos, Dionysios, Walti, Laura N, Hoenger, Gideon, Binet, Isabelle, Schnyder, Aurelia, Stampf, Susanne, Koller, Michael, Mombelli, Matteo, Kim, Min Jeong, Hoffmann, Matthias, Koenig, Katrin, Hess, Christoph, Burgener, Anne-Valérie, Cippà, Pietro E; https://orcid.org/0000-0002-9507-0057, Hübel, Kerstin, Mueller, Thomas F; https://orcid.org/0000-0003-2236-2312, Sidler, Daniel, Dahdal, Suzan, Suter-Riniker, Franziska, Villard, Jean, Zbinden, Andrea; https://orcid.org/0000-0001-8328-7614, Pantaleo, Giuseppe, Semmo, Nasser, Hadaya, Karine, Enríquez, Natalia, Meylan, Pascal R, Froissart, Marc, et al, and Mueller, Nicolas J; https://orcid.org/0000-0002-1059-3191
- Abstract
BACKGROUND: The use of assays detecting cytomegalovirus (CMV)-specific T-cell-mediated immunity may individualize the duration of antiviral prophylaxis in transplant recipients. METHODS: In this open-label randomized trial, adult kidney and liver transplant recipients from six centers in Switzerland were enrolled if they were CMV-seronegative with seropositive donors or CMV-seropositive receiving anti-thymocyte globulins. Patients were randomized to a duration of antiviral prophylaxis based on immune-monitoring (intervention) or a fixed duration (control). Patients in the control group were planned to receive 180 days (CMV-seronegative) or 90 days (CMV-seropositive) of valganciclovir. Patients were assessed monthly with a CMV-specific interferon gamma release assay (T-Track® CMV); prophylaxis in the intervention group was stopped if the assay was positive. The primary outcomes were the proportion of patients with clinically significant CMV infection and reduction in days of prophylaxis. Between-group differences were adjusted for CMV serostatus. RESULTS: Overall, 193 patients were randomized (92 in the immune-monitoring and 101 in the control group) of which 185 had evaluation of the primary endpoint (87 and 98 patients, respectively). Clinically significant CMV infection occurred in 26/87 (adjusted percentage, 30.9%) in the immune-monitoring group and in 32/98 (adjusted percentage, 31.1%) in the control group (adjusted risk difference -0.1, 95%CI -13.0%, 12.7%; p = 0.064). The duration of antiviral prophylaxis was shorter in the immune-monitoring group (adjusted difference -26.0 days, 95%-CI -41.1 to -10.8 days, p < 0.001). CONCLUSIONS: Immune monitoring resulted in a significant reduction of antiviral prophylaxis, but we were unable to establish noninferiority of this approach on the co-primary endpoint of CMV infection.
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- 2024
47. 2023 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations: Summary From the Basic Life Support; Advanced Life Support; Pediatric Life Support; Neonatal Life Support; Education, Implementation, and Teams; and First Aid Task Forces
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Berg, Katherine M, Bray, Janet E, Ng, Kee-Chong, Liley, Helen G, Greif, Robert, Carlson, Jestin N, Morley, Peter T, Drennan, Ian R, Smyth, Michael, Scholefield, Barnaby R, Weiner, Gary M, Cheng, Adam, Djärv, Therese, Abelairas-Gómez, Cristian, Acworth, Jason, Andersen, Lars W, Atkins, Dianne L, Berry, David C, Bhanji, Farhan, Bierens, Joost, Bittencourt Couto, Thomaz, Borra, Vere, Böttiger, Bernd W, Bradley, Richard N, Breckwoldt, Jan, Cassan, Pascal, Chang, Wei-Tien, Charlton, Nathan P, Chung, Sung Phil, Considine, Julie, et al, Berg, Katherine M, Bray, Janet E, Ng, Kee-Chong, Liley, Helen G, Greif, Robert, Carlson, Jestin N, Morley, Peter T, Drennan, Ian R, Smyth, Michael, Scholefield, Barnaby R, Weiner, Gary M, Cheng, Adam, Djärv, Therese, Abelairas-Gómez, Cristian, Acworth, Jason, Andersen, Lars W, Atkins, Dianne L, Berry, David C, Bhanji, Farhan, Bierens, Joost, Bittencourt Couto, Thomaz, Borra, Vere, Böttiger, Bernd W, Bradley, Richard N, Breckwoldt, Jan, Cassan, Pascal, Chang, Wei-Tien, Charlton, Nathan P, Chung, Sung Phil, Considine, Julie, and et al
- Abstract
The International Liaison Committee on Resuscitation engages in a continuous review of new, peer-reviewed, published cardiopulmonary resuscitation and first aid science. Draft Consensus on Science With Treatment Recommendations are posted online throughout the year, and this annual summary provides more concise versions of the final Consensus on Science With Treatment Recommendations from all task forces for the year. Topics addressed by systematic reviews this year include resuscitation of cardiac arrest from drowning, extracorporeal cardiopulmonary resuscitation for adults and children, calcium during cardiac arrest, double sequential defibrillation, neuroprognostication after cardiac arrest for adults and children, maintaining normal temperature after preterm birth, heart rate monitoring methods for diagnostics in neonates, detection of exhaled carbon dioxide in neonates, family presence during resuscitation of adults, and a stepwise approach to resuscitation skills training. Members from 6 International Liaison Committee on Resuscitation task forces have assessed, discussed, and debated the quality of the evidence, using Grading of Recommendations Assessment, Development, and Evaluation criteria, and their statements include consensus treatment recommendations. Insights into the deliberations of the task forces are provided in the Justification and Evidence-to-Decision Framework Highlights sections. In addition, the task forces list priority knowledge gaps for further research. Additional topics are addressed with scoping reviews and evidence updates.
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- 2024
48. Standards for the care of people with cystic fibrosis; establishing and maintaining health
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Southern, Kevin W; https://orcid.org/0000-0001-6516-9083, Addy, Charlotte, Bell, Scott C; https://orcid.org/0000-0001-8651-7139, Bevan, Amanda, Borawska, Urzula, Brown, Catherine, Burgel, Pierre-Régis, Button, Brenda, Castellani, Carlo, Chansard, Audrey, Chilvers, Mark, Davies, Gwyneth, Davies, Jane C, De Boeck, Kris, Declercq, Dimitri, Doumit, Michael, Drevinek, Pavel, Fajac, Isabelle, Gartner, Silvia, Georgiopoulos, Anna M, Gursli, Sandra, Gramegna, Andrea, Hansen, Carina M E, Hug, Martin J, Lammertyn, Elise, Landau, Edwina (Eddie) C, Langley, Ross, Mayer-Hamblett, Nicole, Middleton, Anna, Middleton, Peter G, Radtke, Thomas; https://orcid.org/0000-0002-1723-1070, et al, Southern, Kevin W; https://orcid.org/0000-0001-6516-9083, Addy, Charlotte, Bell, Scott C; https://orcid.org/0000-0001-8651-7139, Bevan, Amanda, Borawska, Urzula, Brown, Catherine, Burgel, Pierre-Régis, Button, Brenda, Castellani, Carlo, Chansard, Audrey, Chilvers, Mark, Davies, Gwyneth, Davies, Jane C, De Boeck, Kris, Declercq, Dimitri, Doumit, Michael, Drevinek, Pavel, Fajac, Isabelle, Gartner, Silvia, Georgiopoulos, Anna M, Gursli, Sandra, Gramegna, Andrea, Hansen, Carina M E, Hug, Martin J, Lammertyn, Elise, Landau, Edwina (Eddie) C, Langley, Ross, Mayer-Hamblett, Nicole, Middleton, Anna, Middleton, Peter G, Radtke, Thomas; https://orcid.org/0000-0002-1723-1070, and et al
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- 2024
49. CADMUS
- Author
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Goeldlin, Martina B; https://orcid.org/0000-0001-5800-116X, Mueller, Madlaine; https://orcid.org/0000-0002-1142-9633, Siepen, Bernhard M; https://orcid.org/0000-0003-0240-4191, Zhang, Wenpeng; https://orcid.org/0000-0001-8748-3962, Ozkan, Hatice; https://orcid.org/0000-0003-1656-4559, Locatelli, Martina, Du, Yang; https://orcid.org/0000-0002-0805-6282, Valenzuela, Waldo; https://orcid.org/0000-0002-6629-3366, Radojewski, Piotr; https://orcid.org/0000-0002-1062-8622, Hakim, Arsany; https://orcid.org/0000-0001-9431-1069, Kaesmacher, Johannes; https://orcid.org/0000-0002-9177-2289, Meinel, Thomas R; https://orcid.org/0000-0002-0647-9273, Clénin, Leander; https://orcid.org/0000-0001-8993-0770, Branca, Mattia; https://orcid.org/0000-0002-8063-7882, Strambo, Davide; https://orcid.org/0000-0003-4429-2714, Fischer, Tim; https://orcid.org/0000-0002-1807-9146, Medlin, Friedrich; https://orcid.org/0000-0002-8477-899X, Peters, Nils; https://orcid.org/0000-0001-8451-7389, Carrera, Emmanuel; https://orcid.org/0000-0003-0045-5382, Lovblad, Karl-Olof; https://orcid.org/0000-0003-2768-9779, Karwacki, Grzegorz M; https://orcid.org/0000-0001-5963-6220, Cereda, Carlo W; https://orcid.org/0000-0002-6479-1476, Niederhauser, Julien; https://orcid.org/0000-0002-6543-7989, Mono, Marie-Luise, Mueller, Achim; https://orcid.org/0009-0009-4597-3440, Wegener, Susanne; https://orcid.org/0000-0003-4369-7023, Sartoretti, Sabine, Polymeris, Alexandros A; https://orcid.org/0000-0002-9475-2208, Altersberger, Valerian; https://orcid.org/0000-0002-0610-9328, Katan, Mira; https://orcid.org/0000-0002-9265-8066, et al, Goeldlin, Martina B; https://orcid.org/0000-0001-5800-116X, Mueller, Madlaine; https://orcid.org/0000-0002-1142-9633, Siepen, Bernhard M; https://orcid.org/0000-0003-0240-4191, Zhang, Wenpeng; https://orcid.org/0000-0001-8748-3962, Ozkan, Hatice; https://orcid.org/0000-0003-1656-4559, Locatelli, Martina, Du, Yang; https://orcid.org/0000-0002-0805-6282, Valenzuela, Waldo; https://orcid.org/0000-0002-6629-3366, Radojewski, Piotr; https://orcid.org/0000-0002-1062-8622, Hakim, Arsany; https://orcid.org/0000-0001-9431-1069, Kaesmacher, Johannes; https://orcid.org/0000-0002-9177-2289, Meinel, Thomas R; https://orcid.org/0000-0002-0647-9273, Clénin, Leander; https://orcid.org/0000-0001-8993-0770, Branca, Mattia; https://orcid.org/0000-0002-8063-7882, Strambo, Davide; https://orcid.org/0000-0003-4429-2714, Fischer, Tim; https://orcid.org/0000-0002-1807-9146, Medlin, Friedrich; https://orcid.org/0000-0002-8477-899X, Peters, Nils; https://orcid.org/0000-0001-8451-7389, Carrera, Emmanuel; https://orcid.org/0000-0003-0045-5382, Lovblad, Karl-Olof; https://orcid.org/0000-0003-2768-9779, Karwacki, Grzegorz M; https://orcid.org/0000-0001-5963-6220, Cereda, Carlo W; https://orcid.org/0000-0002-6479-1476, Niederhauser, Julien; https://orcid.org/0000-0002-6543-7989, Mono, Marie-Luise, Mueller, Achim; https://orcid.org/0009-0009-4597-3440, Wegener, Susanne; https://orcid.org/0000-0003-4369-7023, Sartoretti, Sabine, Polymeris, Alexandros A; https://orcid.org/0000-0002-9475-2208, Altersberger, Valerian; https://orcid.org/0000-0002-0610-9328, Katan, Mira; https://orcid.org/0000-0002-9265-8066, and et al
- Abstract
BACKGROUND AND OBJECTIVES Cerebral small vessel disease (SVD) is the major cause of intracerebral hemorrhage (ICH). There is no comprehensive, easily applicable classification of ICH subtypes according to the presumed underlying SVD using MRI. We developed an MRI-based classification for SVD-related ICH. METHODS We performed a retrospective study in the prospectively collected Swiss Stroke Registry (SSR, 2013-2019) and the Stroke InvestiGation in North And central London (SIGNAL) cohort. Patients with nontraumatic, SVD-related ICH and available MRI within 3 months were classified as Cerebral Amyloid angiopathy (CAA), Deep perforator arteriopathy (DPA), Mixed CAA-DPA, or Undetermined SVD using hemorrhagic and nonhemorrhagic MRI markers (CADMUS classification). The primary outcome was inter-rater reliability using Gwet's AC1. Secondary outcomes were recurrent ICH/ischemic stroke at 3 months according to the CADMUS phenotype. We performed Firth penalized logistic regressions and competing risk analyses. RESULTS The SSR cohort included 1,180 patients (median age [interquartile range] 73 [62-80] years, baseline NIH Stroke Scale 6 [2-12], 45.6% lobar hematoma, systolic blood pressure on admission 166 [145-185] mm Hg). The CADMUS phenotypes were as follows: mixed CAA-DPA (n = 751 patients, 63.6%), undetermined SVD (n = 203, 17.2%), CAA (n = 154, 13.1%), and DPA (n = 72, 6.3%), with a similar distribution in the SIGNAL cohort (n = 313). Inter-rater reliability was good (Gwet's AC1 for SSR/SIGNAL 0.69/0.74). During follow-up, 56 patients had 57 events (28 ICH, 29 ischemic strokes). Three-month event rates were comparable between the CADMUS phenotypes. DISCUSSION CADMUS, a novel MRI-based classification for SVD-associated ICH, is feasible and reproducible and may improve the classification of ICH subtypes in clinical practice and research.
- Published
- 2024
50. COVID-19 Vaccine Acceptance Among Parents of Children With Multisystem Inflammatory Syndrome in Children
- Author
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Blanchard-Rohner, Geraldine; https://orcid.org/0000-0002-9974-2172, Sanchez, Carlos, Andre, Maya C, Bressieux-Degueldre, Sabrina, Grazioli, Serge, Perez, Marie-Helene, Wütz, Daniela; https://orcid.org/0000-0002-5186-2634, Schöbi, Nina, Welzel, Tatjana, Atkinson, Andrew, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Bielicki, Julia A, Trück, Johannes; https://orcid.org/0000-0002-0418-7381, Swissped RECOVERY Trial Group, et al, Prader, Seraina; https://orcid.org/0000-0002-2950-5411, Pachlopnik Schmid, Jana; https://orcid.org/0000-0002-6653-9047, Seiler, Michelle; https://orcid.org/0000-0002-1263-5818, Meyer Sauteur, Patrick, Brotschi, Barbara; https://orcid.org/0000-0002-4472-5199, Weber, Kathrin, Blanchard-Rohner, Geraldine; https://orcid.org/0000-0002-9974-2172, Sanchez, Carlos, Andre, Maya C, Bressieux-Degueldre, Sabrina, Grazioli, Serge, Perez, Marie-Helene, Wütz, Daniela; https://orcid.org/0000-0002-5186-2634, Schöbi, Nina, Welzel, Tatjana, Atkinson, Andrew, Schlapbach, Luregn J; https://orcid.org/0000-0003-2281-2598, Bielicki, Julia A, Trück, Johannes; https://orcid.org/0000-0002-0418-7381, Swissped RECOVERY Trial Group, et al, Prader, Seraina; https://orcid.org/0000-0002-2950-5411, Pachlopnik Schmid, Jana; https://orcid.org/0000-0002-6653-9047, Seiler, Michelle; https://orcid.org/0000-0002-1263-5818, Meyer Sauteur, Patrick, Brotschi, Barbara; https://orcid.org/0000-0002-4472-5199, and Weber, Kathrin
- Abstract
Data on COVID-19 vaccine acceptability among parents of children with multisystem inflammatory syndrome (MIS-C) are limited. In this cohort of children with MIS-C, enrolled in the Swissped RECOVERY trial (NCT04826588), comparing intravenous immunoglobulins or methylprednisolone, who, in accordance with Swiss guidelines, were recommended for SARS-CoV-2 vaccination, 65% (73/112) of parents reported being vaccinated against SARS-CoV-2 before the MIS-C, while 70% were vaccinated after the MIS-C episode of their child. None of the children were vaccinated before the occurrence of the MIS-C, and only 9% (5/56) received the COVID-19 vaccine after the MIS-C. The predominant barriers to COVID-19 vaccination were concerns over potential side effects and insufficient support from their doctors. This emphasizes the crucial role of health care providers in promoting COVID-19 vaccination among children.
- Published
- 2024
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