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105. New Opportunities for Brazing Research by in situ Experiments in a Large Chamber Scanning Electron Microscope

Author

Aretz, Anke, Iskandar, Riza, Mayer, Joachim, Bobzin, Kirsten, Schmidt, Alexander, Weirich, Thomas E., Cavas-Martínez, Francisco, Series Editor, Chaari, Fakher, Series Editor, Gherardini, Francesco, Series Editor, Haddar, Mohamed, Series Editor, Ivanov, Vitalii, Series Editor, Kwon, Young W., Series Editor, Trojanowska, Justyna, Series Editor, di Mare, Francesca, Series Editor, Reisgen, Uwe, editor, Drummer, Dietmar, editor, and Marschall, Holger, editor

Published
2021
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109. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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112. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Author

Seppälä, Toni T., Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria G., Cavestro, Giulia M., Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vida, Joan B., Kariv, Revital, Rosner, Guy, Piñero, Tamara A., Pavicic, Walter, Kalfayan, Pablo, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Redler, Silke, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Hopper, John L., Win, Aung K., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Wadt, Karin A.W., Mourits, Marian J.E., Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar A., Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Rokkones, Erik, Sampson, Julian R., Evans, D.G., and Møller, Pål

Published
2021
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113. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Author

Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., and Møller, Pål

Published
2021
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114. Eocene-Oligocene southwest Pacific Ocean paleoceanography new insights from foraminifera chemistry (DSDP site 277, Campbell Plateau)

Author

F. Hodel, C. Fériot, G. Dera, M. De Rafélis, C. Lezin, E. Nardin, D. Rouby, M. Aretz, P. Antonio, M. Buatier, M. Steinmann, F. Lacan, C. Jeandel, and V. Chavagnac

Subjects
paleoceanography, climate, foraminifera, Eocene, Oligocene, southwest Pacific Ocean, Science
Abstract

Despite its major role in the Earth’s climate regulation, the evolution of high-latitude ocean dynamics through geological time remains unclear. Around Antarctica, changes in the Southern Ocean (SO) circulation are inferred to be responsible for cooling from the late Eocene and glaciation in the early Oligocene. Here, we present a geochemical study of foraminifera from DSDP Site 277 (Campbell Plateau), to better constrain thermal and redox evolution of the high latitude southwest Pacific Ocean during this time interval. From 56 to 48 Ma, Mg/Ca- and δ18O-paleothermometers indicate high surface and bottom water temperatures (24–26°C and 12–14°C, respectively), while weak negative Ce anomalies indicate poorly oxygenated bottom waters. This is followed by a cooling of ∼4° between 48 and 42 Ma, possibly resulting from a weakening of a proto-EAC (East Australian Current) and concomitant strengthening of a proto-Ross gyre. This paleoceanographic change is associated with better ventilation at Site 277, recorded by an increasing negative Ce anomaly. Once this proto-Ross gyre was fully active, increasing biogenic sedimentation rates and decreasing Subbotina sp. δ13C values indicate enhanced productivity. This resulted in a shoaling of the oxygen penetration in the sediment pile recorded by increasing the foraminiferal U/Ca ratio. The negative Ce anomaly sharply increased two times at ∼35 and ∼31 Ma, indicating enhanced seawater ventilation synchronously with the opening of the Tasmanian and Drake Passage gateways, respectively. The Oligocene glaciation is recorded by a major increase of bottom seawater δ18O during the EOT (Eocene-Oligocene Transition) while Mg/Ca-temperatures remain rather constant. This indicates a significant ice control on the δ18O record.

Published
2022
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119. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Author

Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., and Lorenzo, Damaris N.

Published
2021
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120. Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin

Author

Förster, Alisa, Brand, Frank, Banan, Rouzbeh, Hüneburg, Robert, Weber, Christine A. M., Ewert, Wiebke, Kronenberg, Jessica, Previti, Christopher, Elyan, Natalie, Beyer, Ulrike, Martens, Helge, Hong, Bujung, Bräsen, Jan H., Erbersdobler, Andreas, Krauss, Joachim K., Stangel, Martin, Samii, Amir, Wolf, Stephan, Preller, Matthias, Aretz, Stefan, Wiese, Bettina, Hartmann, Christian, and Weber, Ruthild G.

Published
2021
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122. Higher interest to continue COVID-19 practice recommendations in non-pandemic times among German GPs with better crisis leadership skills (egePan study).

Author

Aretz, Benjamin, Krumpholtz, Yelda, Kugai, Simon, Amarell, Nicola, Schmidt, Manuela, and Weltermann, Birgitta

Subjects
PANDEMIC preparedness, GENERAL practitioners, FAMILY medicine, PRIMARY care, INTERNET surveys
Abstract

Background: The German College of General Practitioners and Family Physicians (DEGAM) issued a COVID-19 guideline with eleven recommendations to support primary care services during the pandemic. Their use in general practices beyond the pandemic can contribute to pandemic preparedness. This study analysed general practitioners' (GPs) interest in applying recommended organisational changes in non-pandemic times. Methods: Data from the German egePan GP survey (n = 516 GPs) - a multi-level clustered randomised web-based survey - were analysed. GPs' interest in the future application of the eleven guideline recommendations was calculated. In addition, each recommendation was evaluated by the GPs using a Net-Promoter-Score (NPS range − 100 to 100). A linear regression model identified GP and practice characteristics associated with a higher interest in applying recommendations in non-pandemic times. Results: 98.5% of the GPs indicated the intention to implement at least one guideline recommendation prospectively: disinfectant dispensers at the entrance (86%), optimised consultation scheduling to reduce waiting times (83%), and glass screens in the reception area (72%), which also received the highest NPS scores. In contrast, lower interest was observed for items such as insurance card readers handled by patients (48%), only selected staff treating infectious patients (44%), and video consultations for patients with infections (26%). A higher interest to implement recommendations in non-pandemic times was associated with a higher crisis leadership score (p < 0.001), using the Corona-Warn-App (p = 0.007), and being a female GP (p = 0.045). In addition, GPs from Western, Northern, and Southern, and those with a higher patient volume per three months, were more interested in future implementation. Conclusions: Overall, GPs demonstrated the readiness to follow the DEGAM COVID-19 guideline outside pandemic periods, establishing them as key contributors to pandemic preparedness in Germany. [ABSTRACT FROM AUTHOR]

Published
2024
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123. Innovative Regional Services and Heterogeneous Communication Channels: Results from the Nationwide German egePan Project for Pandemic Management.

Author

Kugai, Simon, Aretz, Benjamin, Krumpholtz, Yelda, Schmidt, Manuela, Süssle, Daniela, Steyer, Linda, Henkel, Adrienne, Bender, Katrin, Girrbach, Felix, Stehr, Sebastian, Balzer, Katrin, and Weltermann, Birgitta

Subjects
CROSS-sectional method, INTERPROFESSIONAL relations, RESEARCH funding, MEDICAL care, OUTPATIENT medical care, DESCRIPTIVE statistics, EMERGENCY medical services, CHI-squared test, TELEMEDICINE, ATTITUDES of medical personnel, COMMUNICATION, NURSING services, ANALYSIS of variance, DATA analysis software, SOCIODEMOGRAPHIC factors, COVID-19 pandemic
Abstract

Background: In the COVID-19 pandemic, novel regional services and communication channels emerged across all sectors of the German healthcare system. To contribute to pandemic preparedness, this study aims to describe newly established services in response to the COVID-19 pandemic from a stakeholder perspective and to examine the interprofessional communication channels, applying a nationwide cross-sectional approach. Methods: A nationwide sample of German healthcare stakeholders comprising general practitioners, associations of statutory health insurance physicians, hospital medical directors, local health departments, rescue coordination centres, medical directors of emergency services, outpatient nursing services, nursing homes, community care access centres, and hospital nursing managers was surveyed. A web-based questionnaire asked for their level of participation in newly implemented regional COVID-19 services and communication channels. Stakeholders' level of recommendation was measured using the Net Promotor Score (NPS), a metric that assesses their satisfaction towards the services surveyed. Results: In total, 1312 healthcare stakeholders participated in the survey. Diagnostic centres (23.0–90.9%), COVID-19 wards in hospitals (40.5–92.1%), emergency medical vehicles designated solely for COVID-19 patients (16.5–68.4%), and crisis intervention teams (11.6–30.6%) exhibited the highest rates of engagement. The services receiving the highest recommendation for future use were COVID-19 focus practices (NPS: 33.4–43.7), COVID-19 wards in hospitals (NPS: 47.6–84.4), transportation of COVID-19 patients exclusively by predefined professional groups (NPS: 12.5–36.4), and newly implemented digitally supported nursing services (NPS: 58.3–100.0). Telephones emerged as the most frequently used communication channel (58.0–96.7%), while email was the primary digital channel (23.7–81.5%). Conclusions: During the COVID-19 pandemic, Germany experienced significant variation in the implementation of pandemic-related services across healthcare sectors, with stakeholders prioritising services built on existing healthcare structures. Developing a proactive digital infrastructure to connect healthcare professionals from different sectors is crucial for better future pandemic management. [ABSTRACT FROM AUTHOR]

Published
2024
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124. Evolution of pre-damaged ITER grade plasma facing components under WEST plasma exposure: smoothing and tungsten sources.

Author

Richou, M., Corre, Y., Diez, M., Durif, A., Guillemaut, C., Reilhac, P., Tichit, Q., Tsitrone, E., Dorow-Gerspach, D., Loewenhoff, Th., Wirtz, M., Grosjean, A., Martin, C., Giacometti, G., Aretz, A., Spahn, M., and Gaspar, J.

Subjects
TUNGSTEN, COPPER, ELECTRON beams, HEATING load, PLASMA interactions, EROSION
Abstract

The evaluation of the impact of plasma-facing units (PFUs) damage on subsequent plasma operation is an important issue for ITER. This is one of the topic addressed by the operation of dedicated PFUs in WEST. From the start of WEST in 2017, few ITER grade divertor PFUs were tested in the lower divertor for short plasma exposure (experimental campaigns C1–C5). A PFU is an assembly of tungsten blocks on CuCrZr tube via pure copper interlayer. Since 2022, WEST operates with a lower divertor fully equipped with ITER grade PFUs (experimental campaign C6–C7) with long duration plasma exposure capabilities. To test the ageing of the ITER-grade PFUs on an accelerated basis, well controlled damage was implemented on purpose with electron beam loading on the plasma facing surface of two different PFUs (pre-damage#1 and #2 featuring different level of damage). Damage tackled in this study is induced by the loading with numerous transient heat loading events to mimic the ELM impact on the ITER grade PFU. This paper presents the damage before and after WEST plasma exposure and shows the tungsten sources and temperature of the block measured during the operation. On damaged area, surface roughening is heterogeneous. With WEST campaigns (C3, C4 and C7) respectively ended in (2018, 2019 and 2023) a global smoothing of the pre-damaged surfaces, in particular those located in the high loaded erosion area, is observed. No evolution of the crack is observed in the electron beam loaded area, while new cracking are observed on non pre-damaged area on the tungsten top surfaces in highly loaded areas (outer strike point) after significant plasma duration and cumulated energy (first observation in C4 and tends to be confirmed with preliminary observations after the C7 campaign). Smoothing is less pronounced after the 2018 campaign, which may be due to the related short plasma duration. The surface smoothing of blocks also depends on their poloidal position. For PFU which has no shaping, toroidal positioning within a block has no influence on the surface smoothing. After 2019 and 2023 campaigns, equivalent relative smoothing is obtained (between 19 and 32%). For the explored plasma conditions, damage has no influence on the maximum brightness of W. [ABSTRACT FROM AUTHOR]

Published
2024
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125. No evidence to support the impact of migration background on treatment response rates and cancer survival: a retrospective matched-pair analysis in Germany

Author

Roman Rüdiger, Franziska Geiser, Manuel Ritter, Peter Brossart, Mignon-Denise Keyver-Paik, Andree Faridi, Hartmut Vatter, Friedrich Bootz, Jennifer Landsberg, Jörg C. Kalff, Ulrich Herrlinger, Glen Kristiansen, Torsten Pietsch, Stefan Aretz, Daniel Thomas, Lukas Radbruch, Franz-Josef Kramer, Christian P. Strassburg, Maria Gonzalez-Carmona, Dirk Skowasch, Markus Essler, Matthias Schmid, Jennifer Nadal, Nicole Ernstmann, Amit Sharma, Benjamin Funke, and Ingo G. H. Schmidt-Wolf

Subjects
Cancer, Migration background, Matched-pair analysis, Response rate, Survival, Socioeconomic status, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Immigration has taken the central stage in world politics, especially in the developed countries like Germany, where the continuous flow of immigrants has been well documented since 1960s. Strikingly, emerging data suggest that migrant patients have a poorer response to the treatment and lower survival rates in their new host country, raising concerns about health disparities. Herein, we present our investigation on the treatment response rate and cancer survival in German patients with and without an immigrant background that were treated at our comprehensive cancer center in Germany. Methods Initially, we considered 8162 cancer patients treated at the Center for Integrated Oncology (CIO), University Hospital Bonn, Germany (April 2002–December 2015) for matched-pair analysis. Subsequently, the German patients with a migration background and those from the native German population were manually identified and catalogued using a highly specific name-based algorithm. The clinical parameters such as demographic characteristics, tumor characteristics, defined staging criteria, and primary therapy were further adjusted. Using these stringent criteria, a total of 422 patients (n = 211, Germans with migration background; n = 211, native German population) were screened to compare for the treatment response and survival rates (i.e., 5-year overall survival, progression-free survival, and time to progression). Results Compared to the cohort with migration background, the cohort without migration background was slightly older (54.9 vs. 57.9 years) while having the same sex distribution (54.5% vs. 55.0% female) and longer follow-up time (36.9 vs. 42.6 months). We did not find significant differences in cancer survival (5-year overall survival, P = 0.771) and the response rates (Overall Remission Rate; McNemar’s test, P = 0.346) between both collectives. Conclusion Contrary to prior reports, we found no significant differences in cancer survival between German patients with immigrant background and native German patients. Nevertheless, the advanced treatment protocols implemented at our comprehensive cancer center may possibly account for the low variance in outcome. To conduct similar studies with a broader perspective, we propose that certain risk factors (country-of-origin-specific infections, dietary habits, epigenetics for chronic diseases etc.) should be considered, specially in the future studies that will recruit new arrivals from the 2015 German refugee crisis.

Published
2021
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129. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

Author

Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., and Heinimann, Karl

Published
2020
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133. Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

Author

Engel, Christoph, Ahadova, Aysel, Seppälä, Toni T., Aretz, Stefan, Bigirwamungu-Bargeman, Marloes, Bläker, Hendrik, Bucksch, Karolin, Büttner, Reinhard, de Vos tot Nederveen Cappel, Wouter T., Endris, Volker, Holinski-Feder, Elke, Holzapfel, Stefanie, Hüneburg, Robert, Jacobs, Maarten A.J.M., Koornstra, Jan J., Langers, Alexandra M., Lepistö, Anna, Morak, Monika, Möslein, Gabriela, Peltomäki, Päivi, Pylvänäinen, Kirsi, Rahner, Nils, Renkonen-Sinisalo, Laura, Schulmann, Karsten, Steinke-Lange, Verena, Stenzinger, Albrecht, Strassburg, Christian P., van de Meeberg, Paul C., van Kouwen, Mariette, van Leerdam, Monique, Vangala, Deepak B., Vecht, Juda, Verhulst, Marie-Louise, von Knebel Doeberitz, Magnus, Weitz, Jürgen, Zachariae, Silke, Loeffler, Markus, Mecklin, Jukka-Pekka, Kloor, Matthias, and Vasen, Hans F.

Published
2020
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135. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision

Author

Zaffaroni, Gloria, primary, Mannucci, Alessandro, additional, Koskenvuo, Laura, additional, de Lacy, Borja, additional, Maffioli, Anna, additional, Bisseling, Tanya, additional, Half, Elizabeth, additional, Cavestro, Giulia Martina, additional, Valle, Laura, additional, Ryan, Neil, additional, Aretz, Stefan, additional, Brown, Karen, additional, Buttitta, Francesco, additional, Carneiro, Fatima, additional, Claber, Oonagh, additional, Blanco-Colino, Ruth, additional, Collard, Maxime, additional, Crosbie, Emma, additional, Cunha, Miguel, additional, Doulias, Triantafyllos, additional, Fleming, Christina, additional, Heinrich, Henriette, additional, Hüneburg, Robert, additional, Metras, Julie, additional, Nagtegaal, Iris, additional, Negoi, Ionut, additional, Nielsen, Maartje, additional, Pellino, Gianluca, additional, Ricciardiello, Luigi, additional, Sagir, Abdurrahman, additional, Sánchez-Guillén, Luis, additional, Seppälä, Toni T, additional, Siersema, Peter, additional, Striebeck, Benedikt, additional, Sampson, Julian R, additional, Latchford, Andrew, additional, Parc, Yann, additional, Burn, John, additional, and Möslein, Gabriela, additional

Published
2024
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141. Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

Author

Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski-Feder, Stefanie Holzapfel, Robert Hüneburg, Matthias Kloor, Magnus von Knebel Doeberitz, Monika Morak, Gabriela Möslein, Jacob Nattermann, Claudia Perne, Nils Rahner, Wolff Schmiegel, Karsten Schulmann, Verena Steinke-Lange, Christian P. Strassburg, Deepak B. Vangala, Jürgen Weitz, Markus Loeffler, Christoph Engel, and on behalf of the German Consortium for Familial Intestinal Cancer

Subjects
Lynch syndrome, Lynch-like syndrome, Familial colorectal cancer type X, Cancer risk, Prospective surveillance study, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background Individuals with pathogenic germline variants in DNA mismatch repair (MMR) genes are at increased risk of developing colorectal, endometrial and other cancers (Lynch syndrome, LS). While previous studies have extensively described cancer risks in LS, cancer risks in individuals from families without detectable MMR gene defects despite MMR deficiency (Lynch-like syndrome, LLS), and in individuals from families fulfilling the Amsterdam-II criteria without any signs of MMR deficiency (familial colorectal cancer type X, FCCX) are less well studied. The aim of this prospective study was to characterise the risk for different cancer types in LS, LLS, and FCCX, and to compare these with the cancer risks in the general population. Methods Data was taken from the registry of the German Consortium for Familial Intestinal Cancer, where individuals were followed up prospectively within the framework of an intensified surveillance programme at recommended annual examination intervals. A total of 1120 LS, 594 LLS, and 116 FCCX individuals were analysed. From this total sample, eight different cohorts were defined, in which age-dependent cumulative risks and standardised incidence ratios were calculated regarding the first incident occurrence of any, colorectal, stomach, small bowel, urothelial, female breast, ovarian, and endometrial cancer, separately for LS, LLS, and FCCX. Results The number of individuals at risk for first incident cancer ranged from 322 to 1102 in LS, 120 to 586 in LLS, and 40 to 116 in FCCX, depending on the cancer type of interest. For most cancer types, higher risks were observed in LS compared to LLS, FCCX, and the general population. Risks for any, colorectal, stomach, urothelial, and endometrial cancer were significantly higher in LLS compared to the general population. No significantly increased risks could be detected in FCCX compared to LLS patients, and the general population. Colorectal and endometrial cancer risks tended to be higher in LLS than in FCCX. Conclusions The characterisation of cancer risks in patients with LLS and FCCX is important to develop appropriate surveillance programmes for these specific intermediate risk groups. Larger prospective studies are needed to obtain more precise risk estimates.

Published
2020
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142. Lernen mit immersiver Virtual Reality: Didaktisches Design und Lessons Learned

Author

Josef Buchner and Diane Aretz

Subjects
virtual reality, technologie-akzeptanz, immersion, primarpädagogik, Special aspects of education, LC8-6691
Abstract

In diesem Beitrag wird ein didaktisches Design zum Einsatz von mobiler immersiver Virtual Reality vorgestellt. Die Erprobung erfolgte im Mai 2019 an einer deutschen Grundschule. Die Schülerinnen und Schüler haben dazu Karton-VR-Brillen selber zusammengebaut, getestet und im Anschluss für das Lernen eines Themas aus dem Sachunterricht verwendet. Die theoretische Grundlage für den Ablauf des Lernarrangements stellt die Generative-Learning-Theory dar. Diese sieht vor, dass die Lernenden während der Auseinandersetzung mit einem Medium Lernaktivitäten ausführen. Wir haben diese Vorgehensweisen noch um kommunikative und kollaborative Elemente erweitert, sodass die Kinder in Paaren gemeinsam an den Aufgabenstellungen arbeiteten. Auf eine Phase des «Sehens in der virtuellen Welt» folgte stets eine Phase des sozialen Austauschs mit dem Partner bzw. der Partnerin. Schriftliche und visuelle Zusammenfassungen wurden in einem «Team-Heftchen» festgehalten. Nach dem Lernereignis wurden die ermittelten Informationen in der Klasse gemeinsam besprochen sowie die von den Schülerinnen und Schülern kreierten eigenen Ideen für VR-Aufgabenstellungen präsentiert. Am nächsten Schultag erfolgte zudem eine Reflexion über das Medium VR. Lessons Learned sowie Empfehlungen zum Einsatz runden den Beitrag ab.

Published
2020
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143. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Author

Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål

Published
2020
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148. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/ Polyposis Variant Curation Expert Panel

Author

Spier, I, Yin, X, Richardson, M, Pineda, M, Laner, A, Ritter, D, Boyle, J, Mur, P, Hansen, TVO, Shi, X, Mahmood, K, Plazzer, J-P, Ognedal, E, Nordling, M, Farrington, SM, Yamamoto, G, Baert-Desurmont, S, Martins, A, Borras, E, Tops, C, Webb, E, Beshay, V, Genuardi, M, Pesaran, T, Capella, G, Tavtigian, S, Latchford, A, Frayling, IM, Plon, SE, Greenblatt, M, Macrae, FA, Aretz, S, Spier, I, Yin, X, Richardson, M, Pineda, M, Laner, A, Ritter, D, Boyle, J, Mur, P, Hansen, TVO, Shi, X, Mahmood, K, Plazzer, J-P, Ognedal, E, Nordling, M, Farrington, SM, Yamamoto, G, Baert-Desurmont, S, Martins, A, Borras, E, Tops, C, Webb, E, Beshay, V, Genuardi, M, Pesaran, T, Capella, G, Tavtigian, S, Latchford, A, Frayling, IM, Plon, SE, Greenblatt, M, Macrae, FA, and Aretz, S

Abstract

PURPOSE: The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours and the Clinical Genome Resource, who set out to develop recommendations for the interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the most frequent hereditary polyposis syndrome. METHODS: Through a rigorous process of database analysis, literature review, and expert elicitation, the APC VCEP derived gene-specific modifications to the ACMG/AMP (American College of Medical Genetics and Genomics and Association for Molecular Pathology) variant classification guidelines and validated such criteria through the pilot classification of 58 variants. RESULTS: The APC-specific criteria represented gene- and disease-informed specifications, including a quantitative approach to allele frequency thresholds, a stepwise decision tool for truncating variants, and semiquantitative evaluations of experimental and clinical data. Using the APC-specific criteria, 47% (27/58) of pilot variants were reclassified including 14 previous variants of uncertain significance (VUS). CONCLUSION: The APC-specific ACMG/AMP criteria preserved the classification of well-characterized variants on ClinVar while substantially reducing the number of VUS by 56% (14/25). Moving forward, the APC VCEP will continue to interpret prioritized lists of VUS, the results of which will represent the most authoritative variant classification for widespread clinical use.

Published
2024

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