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4. Exposure to bisphenol A in European women from 2007 to 2014 using human biomonitoring data – The European Joint Programme HBM4EU

Author

Romuald Tagne-Fotso, Margaux Riou, Abdessattar Saoudi, Abdelkrim Zeghnoun, Hanne Frederiksen, Tamar Berman, Parisa Montazeri, Anna-Maria Andersson, Laura Rodriguez-Martin, Agneta Akesson, Marika Berglund, Pierre Biot, Argelia Castaño, Marie-Aline Charles, Emmanuelle Cocco, Elly Den Hond, Marie-Christine Dewolf, Marta Esteban-Lopez, Liese Gilles, Eva Govarts, Cedric Guignard, Arno C. Gutleb, Christina Hartmann, Tina Kold Jensen, Gudrun Koppen, Tina Kosjek, Nathalie Lambrechts, Rosemary McEachan, Amrit K. Sakhi, Janja Snoj Tratnik, Maria Uhl, Jose Urquiza, Marina Vafeiadi, An Van Nieuwenhuyse, Martine Vrijheid, Till Weber, Cécile Zaros, Elena Tarroja-Aulina, Lisbeth E. Knudsen, Adrian Covaci, Robert Barouki, Marike Kolossa-Gehring, Greet Schoeters, Sebastien Denys, Clemence Fillol, and Loïc Rambaud

Subjects
HBM4EU, Human biomonitoring (HBM), Bisphenol A (BPA), Human exposure, Vulnerable population, Standardized procedures, Environmental sciences, GE1-350
Abstract

Background: Bisphenol A (BPA; or 4,4′-isopropylidenediphenol) is an endocrine disrupting chemical. It was widely used in a variety of plastic-based manufactured products for several years. The European Food Safety Authority (EFSA) recently reduced the Tolerable Daily Intake (TDI) for BPA by 20,000 times due to concerns about immune-toxicity. Objective: We used human biomonitoring (HBM) data to investigate the general level of BPA exposure from 2007 to 2014 of European women aged 18–73 years (n = 4,226) and its determinants. Methods: Fifteen studies from 12 countries (Austria, Belgium, Denmark, France, Germany, Greece, Israel, Luxembourg, Slovenia, Spain, Sweden, and the United Kingdom) were included in the BPA Study protocol developed within the European Joint Programme HBM4EU. Seventy variables related to the BPA exposure were collected through a rigorous post-harmonization process. Linear mixed regression models were used to investigate the determinants of total urine BPA in the combined population. Results: Total BPA was quantified in 85–100 % of women in 14 out of 15 contributing studies. Only the Austrian PBAT study (Western Europe), which had a limit of quantification 2.5 to 25-fold higher than the other studies (LOQ=2.5 µg/L), found total BPA in less than 5 % of the urine samples analyzed. The geometric mean (GM) of total urine BPA ranged from 0.77 to 2.47 µg/L among the contributing studies. The lowest GM of total BPA was observed in France (Western Europe) from the ELFE subset (GM=0.77 µg/L (0.98 µg/g creatinine), n = 1741), and the highest levels were found in Belgium (Western Europe) and Greece (Southern Europe), from DEMOCOPHES (GM=2.47 µg/L (2.26 µg/g creatinine), n = 129) and HELIX-RHEA (GM=2.47 µg/L (2.44 µg/g creatinine), n = 194) subsets, respectively. One hundred percent of women in 14 out of 15 data collections in this study exceeded the health-based human biomonitoring guidance value for the general population (HBM-GVGenPop) of 0.0115 µg total BPA/L urine derived from the updated EFSA’s BPA TDI. Variables related to the measurement of total urine BPA and those related to the main socio-demographic characteristics (age, height, weight, education, smoking status) were collected in almost all studies, while several variables related to BPA exposure factors were not gathered in most of the original studies (consumption of beverages contained in plastic bottles, consumption of canned food or beverages, consumption of food in contact with plastic packaging, use of plastic film or plastic containers for food, having a plastic floor covering in the house, use of thermal paper…). No clear determinants of total urine BPA concentrations among European women were found. A broader range of data planned for collection in the original questionnaires of the contributing studies would have resulted in a more thorough investigation of the determinants of BPA exposure in European women. Conclusion: This study highlights the urgent need for action to further reduce exposure to BPA to protect the population, as is already the case in the European Union. The study also underscores the importance of pre-harmonizing HBM design and data for producing comparable data and interpretable results at a European-wide level, and to increase HBM uptake by regulatory agencies.

Published
2024
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5. Resumen ejecutivo de la Guía de la Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor (SEDAR), Sociedad Española de Medicina de Urgencias y Emergencias (SEMES) y Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello (SEORL-CCC) para el manejo de la vía aérea difícil

Author

Gómez-Ríos, Manuel Á., Alfonso Sastre, José, Onrubia-Fuertes, Xavier, López, Teresa, Abad-Gurumeta, Alfredo, Casans-Frances, Rubén, Gómez-Ríos, David, Carlos Garzón, José, Martínez-Pons, Vicente, Casalderrey-Rivas, Marta, Fernández-Vaquero, Miguel Ángel, Martínez-Hurtado, Eugenio, Martín-Larrauri, Ricardo, Reviriego-Agudo, Laura, Gutierrez-Couto, Uxía, García-Fernández, Javier, Serrano-Moraza, Alfredo, Rodríguez Martín, Luis Jesús, Camacho Leis, Carmen, Espinosa Ramírez, Salvador, Fandiño Orgeira, José Manuel, Vázquez Lima, Manuel José, Mayo-Yáñez, Miguel, Parente-Arias, Pablo, Sistiaga-Suárez, Jon Alexander, Bernal-Sprekelsen, Manuel, and Charco-Mora, Pedro

Published
2024
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6. Recently acquired hepatitis C: Epidemiological characteristics and treatment response in a large cohort of MSM living with HIV in Madrid

Author

Martín-Carbonero, Luz, Gutierrez, Ángela, Bisbal, Otilia, Vergas, Jorge, González-Baeza, Alicia, Rodríguez Martín, Carmen, Vivancos, María Jesús, Sanz, José, Álvarez, Beatriz, Palomar, Marina, de los Santos, Ignacio, Sepúlveda-Crespo, Daniel, Resino, Salvador, Berenguer, Juan, Cano-Smith, Joanna, González-García, Juan, and Ryan, Pablo

Published
2024
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7. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Newman, John H., and Mokry, Jill R.

Published
2024
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9. Determinants of exposure to acrylamide in European children and adults based on urinary biomarkers: results from the 'European Human Biomonitoring Initiative' HBM4EU participating studies

Author

Sandra F. Fernández, Michael Poteser, Eva Govarts, Olga Pardo, Clara Coscollà, Thomas Schettgen, Nina Vogel, Till Weber, Aline Murawski, Marike Kolossa-Gehring, Maria Rüther, Phillipp Schmidt, Sónia Namorado, An Van Nieuwenhuyse, Brice Appenzeller, Kristín Ólafsdóttir, Thorhallur I. Halldorsson, Line S. Haug, Cathrine Thomsen, Fabio Barbone, Marika Mariuz, Valentina Rosolen, Loïc Rambaud, Margaux Riou, Thomas Göen, Stefanie Nübler, Moritz Schäfer, Karin H. A. Zarrabi, Ovnair Sepai, Laura Rodriguez Martin, Greet Schoeters, Liese Gilles, Karin Leander, Hanns Moshammer, Agneta Akesson, and Federica Laguzzi

Subjects
Medicine, Science
Abstract

Abstract Little is known about exposure determinants of acrylamide (AA), a genotoxic food-processing contaminant, in Europe. We assessed determinants of AA exposure, measured by urinary mercapturic acids of AA (AAMA) and glycidamide (GAMA), its main metabolite, in 3157 children/adolescents and 1297 adults in the European Human Biomonitoring Initiative. Harmonized individual-level questionnaires data and quality assured measurements of AAMA and GAMA (urine collection: 2014–2021), the short-term validated biomarkers of AA exposure, were obtained from four studies (Italy, France, Germany, and Norway) in children/adolescents (age range: 3–18 years) and six studies (Portugal, Spain, France, Germany, Luxembourg, and Iceland) in adults (age range: 20–45 years). Multivariable-adjusted pooled quantile regressions were employed to assess median differences (β coefficients) with 95% confidence intervals (95% CI) in AAMA and GAMA (µg/g creatinine) in relation to exposure determinants. Southern European studies had higher AAMA than Northern studies. In children/adolescents, we observed significant lower AA associated with high socioeconomic status (AAMA:β = − 9.1 µg/g creatinine, 95% CI − 15.8, − 2.4; GAMA: β = − 3.4 µg/g creatinine, 95% CI − 4.7, − 2.2), living in rural areas (AAMA:β = − 4.7 µg/g creatinine, 95% CI − 8.6, − 0.8; GAMA:β = − 1.1 µg/g creatinine, 95% CI − 1.9, − 0.4) and increasing age (AAMA:β = − 1.9 µg/g creatinine, 95% CI − 2.4, − 1.4; GAMA:β = − 0.7 µg/g creatinine, 95% CI − 0.8, − 0.6). In adults, higher AAMA was also associated with high consumption of fried potatoes whereas lower AAMA was associated with higher body-mass-index. Based on this large-scale study, several potential determinants of AA exposure were identified in children/adolescents and adults in European countries.

Published
2023
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11. Exposure to bisphenol A in European women from 2007 to 2014 using human biomonitoring data – The European Joint Programme HBM4EU

Author

Tagne-Fotso, Romuald, Riou, Margaux, Saoudi, Abdessattar, Zeghnoun, Abdelkrim, Frederiksen, Hanne, Berman, Tamar, Montazeri, Parisa, Andersson, Anna-Maria, Rodriguez-Martin, Laura, Akesson, Agneta, Berglund, Marika, Biot, Pierre, Castaño, Argelia, Charles, Marie-Aline, Cocco, Emmanuelle, Den Hond, Elly, Dewolf, Marie-Christine, Esteban-Lopez, Marta, Gilles, Liese, Govarts, Eva, Guignard, Cedric, Gutleb, Arno C., Hartmann, Christina, Kold Jensen, Tina, Koppen, Gudrun, Kosjek, Tina, Lambrechts, Nathalie, McEachan, Rosemary, Sakhi, Amrit K., Snoj Tratnik, Janja, Uhl, Maria, Urquiza, Jose, Vafeiadi, Marina, Van Nieuwenhuyse, An, Vrijheid, Martine, Weber, Till, Zaros, Cécile, Tarroja-Aulina, Elena, Knudsen, Lisbeth E., Covaci, Adrian, Barouki, Robert, Kolossa-Gehring, Marike, Schoeters, Greet, Denys, Sebastien, Fillol, Clemence, and Rambaud, Loïc

Published
2024
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15. Transplanting FVIII/ET3-secreting cells in fetal sheep increases FVIII levels long-term without inducing immunity or toxicity

Author

Rodriguez, Martin, Trevisan, Brady, Ramamurthy, Ritu M., George, Sunil K., Diaz, Jonathan, Alexander, Jordan, Meares, Diane, Schwahn, Denise J., Quilici, David R., Figueroa, Jorge, Gautreaux, Michael, Farland, Andrew, Atala, Anthony, Doering, Christopher B., Spencer, H. Trent, Porada, Christopher D., and Almeida-Porada, Graça

Published
2023
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21. Assessment of an intervention for preventing pediatric overweight and obesity through the World Café technique: A qualitative study

Author

Gómez-Sánchez, María del Mar, Aragón-Martín, Rubén, Martínez-Nieto, Jose Manuel, Hernán-García, Mariano, Segundo-Iglesias, Carmen, Jiménez-Pavón, David, Novalbos-Ruiz, Jose Pedro, Santi-Cano, María José, Piñero, José Castro, Lineros-González, Carmen, Schwarz-Rodríguez, Mónica, and Rodríguez-Martín, Amelia

Published
2024
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22. Spanish Society of Anesthesiology, Reanimation and Pain Therapy (SEDAR), Spanish Society of Emergency and Emergency Medicine (SEMES) and Spanish Society of Otolaryngology, Head and Neck Surgery (SEORL-CCC) Guideline for difficult airway management. Part II

Author

Gómez-Ríos, M.Á., Sastre, J.A., Onrubia-Fuertes, X., López, T., Abad-Gurumeta, A., Casans-Francés, R., Gómez-Ríos, D., Garzón, J.C., Martínez-Pons, V., Casalderrey-Rivas, M., Fernández-Vaquero, M.Á., Martínez-Hurtado, E., Martín-Larrauri, R., Reviriego-Agudo, L., Gutierrez-Couto, U., García-Fernández, J., Serrano-Moraza, A., Rodríguez Martín, L.J., Camacho Leis, C., Espinosa Ramírez, S., Fandiño Orgeira, J.M., Vázquez Lima, M.J., Mayo-Yáñez, M., Parente-Arias, P., Sistiaga-Suárez, J.A., Bernal-Sprekelsen, M., and Charco-Mora, P.

Published
2024
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23. Guía de la Sociedad Española De Anestesiología, Reanimación y Terapéutica del Dolor (SEDAR), Sociedad Española de Medicina de Urgencias y Emergencias (SEMES) y Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello (SEORL-CCC) para el manejo de la vía aérea difícil. Parte I

Author

Gómez-Ríos, M.Á., Sastre, J.A., Onrubia-Fuertes, X., López, T., Abad-Gurumeta, A., Casans-Francés, R., Gómez-Ríos, D., Garzón, J.C., Martínez-Pons, V., Casalderrey-Rivas, M., Fernández-Vaquero, M.Á., Martínez-Hurtado, E., Martín-Larrauri, R., Reviriego-Agudo, L., Gutierrez-Couto, U., García-Fernández, J., Serrano-Moraza, A., Rodríguez Martín, L.J., Camacho Leis, C., Espinosa Ramírez, S., Fandiño Orgeira, J.M., Vázquez Lima, M.J., Mayo-Yáñez, M., Parente-Arias, P., Sistiaga-Suárez, J.A., Bernal-Sprekelsen, M., and Charco-Mora, P.

Published
2024
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24. Cell‐to‐cell and type‐to‐type heterogeneity of signaling networks: insights from the crowd

Author

Gabor, Attila, Tognetti, Marco, Driessen, Alice, Tanevski, Jovan, Guo, Baosen, Cao, Wencai, Shen, He, Yu, Thomas, Chung, Verena, Bodenmiller, Bernd, Saez‐Rodriguez, Julio, Prusokas, Augustinas, Prusokas, Alidivinas, Retkute, Renata, Rajasekar, Anand, Raman, Karthik, Sudhakar, Malvika, Rengaswamy, Raghunathan, Shih, Edward SC, Kim, Min‐jeong, Cho, Changje, Kim, Dohyang, Oh, Hyeju, Hwang, Jinseub, Jongtae, Kim, Nam, Yeongeun, Yoon, Sanghoo, Kwon, Taeyong, Lee, Kyeongjun, Chaudhary, Sarika, Sharma, Nehal, Bande, Shreya, Cankut Cubuk, Gao Gao fan zhu, Gundogdu, Pelin, Dopazo, Joaquin, Rian, Kinza, Loucera, Carlos, Falco, Matias M, Garrido‐Rodriguez, Martin, Peña‐Chilet, Maria, Chen, Huiyuan, Turu, Gabor, Hunyadi, Laszlo, Misak, Adam, Zhou, Lisheng, Jiang, Xiaoqing, Zhang, Pieta, Rai, Aakansha, Kutum, Rintu, Rana, Sadhna, Srinivasan, Rajgopal, Pradhan, Swatantra, Li, James, Bajic, Vladimir, Van Neste, Christophe, Barradas‐bautista, Didier, Albarade, Somayah Abdullah, Nikolskiy, Igor, Sinkala, Musalula, Tran, Duc, Nguyen, Hung, Nguyen, Tin, Wu, Alexander, DeMeo, Benjamin, Hie, Brian, Singh, Rohit, Liu, Jiwei, Chen, Xueer, Saiz, Leonor, Vilar, Jose MG, Qiu, Peng, Gosain, Akash, Dhall, Anjali, Bajaj, Dinesh, Kaur, Harpreet, Bagaria, Krishna, Chauhan, Mayank, Sharma, Neelam, Raghava, Gajendra, Patiyal, Sumeet, Hao, Jianye, Peng, Jiajie, Ning, Shangyi, Ma, Yi, Wei, Zhongyu, Aalto, Atte, Goncalves, Jorge, Mombaerts, Laurent, Dai, Xinnan, Zheng, Jie, Mundra, Piyushkumar, Xu, Fan, Wang, Jie, Kant Singh, Krishna, and Lee, Mingyu

Subjects
Cancer, Breast Cancer, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Breast Neoplasms, Female, Humans, Machine Learning, Proteins, Signal Transduction, cell signaling, crowdsourcing, mass cytometry, predictive modeling, single cell, Single Cell Signaling in Breast Cancer DREAM Consortium members, Biochemistry and Cell Biology, Other Biological Sciences, Bioinformatics
Abstract

Recent technological developments allow us to measure the status of dozens of proteins in individual cells. This opens the way to understand the heterogeneity of complex multi-signaling networks across cells and cell types, with important implications to understand and treat diseases such as cancer. These technologies are, however, limited to proteins for which antibodies are available and are fairly costly, making predictions of new markers and of existing markers under new conditions a valuable alternative. To assess our capacity to make such predictions and boost further methodological development, we organized the Single Cell Signaling in Breast Cancer DREAM challenge. We used a mass cytometry dataset, covering 36 markers in over 4,000 conditions totaling 80 million single cells across 67 breast cancer cell lines. Through four increasingly difficult subchallenges, the participants predicted missing markers, new conditions, and the time-course response of single cells to stimuli in the presence and absence of kinase inhibitors. The challenge results show that despite the stochastic nature of signal transduction in single cells, the signaling events are tightly controlled and machine learning methods can accurately predict new experimental data.

Published
2021

27. Incidence of sexually transmitted infections and screening models among pre-exposure prophylaxis users

Author

Ayerdi, Oskar, Orviz, Eva, Valls Carbó, Adrián, Fernández Piñeiro, Nuria, Vera García, Mar, Puerta López, Teresa, Ballesteros Martín, Juan, Rodríguez Martín, Carmen, Baza Caraciolo, Begoña, Lejarraga Cañas, Clara, Pérez-García, Jorge-Alfredo, Carrió, Dulce, García Lotero, Mónica, Ferreras Forcada, María, González Polo, Montserrat, Raposo Utrilla, Montserrat, Delgado-Iribarren, Alberto, Del Romero-Guerrero, Jorge, and Estrada Pérez, Vicente

Published
2024
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30. Protocol of the MOVI-ageing randomized controlled trial: a home-based e-Health intervention of cognitively demanding exercise for the improvement of cardiorespiratory fitness and cognitive function in older individuals

Author

Celia Alvarez-Bueno, Maribel Lucerón-Lucas-Torres, Abel Ruiz-Hermosa, Irene Sequí-Dominguez, Luis Carlos Venegas-Sanabria, Maria Medrano-Echeverria, María Eugenia Visier-Alfonso, and Beatriz Rodriguez-Martin

Subjects
ageing, clinical trial, epidemiology, patient-centered care, primary prevention, sports medicine, Public aspects of medicine, RA1-1270
Abstract

ObjectiveTo describe the protocol of the MOVI-ageing randomized controlled trial, a home-based eHealth intervention of cognitive-demanding exercise for older adults, in improving global cognitive function and basic cognitive functions, cardiorespiratory fitness, and muscle fitness.MethodsThis randomized controlled trial will include participants identified in the social centers of Cuenca and Talavera de la Reina who agree to participate and provide informed consent. Adults aged 60–80 years of both genders retired regardless of the reason for retirement, who do not meet frailty criteria according to Fried criteria, and without cognitive impairment will be invited to participate. This study will be developed in two phases: (i) a 12-week randomized efficacy/feasibility trial and (ii) a large-scale implementation randomized trial phase with a 12-week follow-up following similar procedures. In addition, a qualitative study on barriers to and facilitators of the implementation of the physical exercise intervention using eHealth for older people will be conducted. Participants will have access to a platform including videos of cognitively demanding physical exercise. The participants will be remotely and off-line guided through the physical exercise intervention, and the research team will be able to check the degree of compliance with the program and its correct execution. The participants will receive feedback on their compliance with the routines and reinforcement messages.ImplicationsThe implementations of the findings and their inclusion in guidelines may directly impact in older people’s life, and relatives, through the prevention of morbidity and the reduction of years lost to disability. These benefits may be reflected in the reduction of economic expenditure by reducing the demand for social and health care services.EthicsThe Clinical Research Ethics Committee of the ‘Virgen de la Luz’ Hospital in Cuenca approved the study protocol (registration number: 2022/PI3222). In addition, this protocol was previously registered in Clinicaltrials.gov (Number: NCT05928078).

Published
2023
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38. Hair mercury is associated with dyslipidemia and cardiovascular risk: An anthropometric, biochemical and genetic cross-sectional study of Amazonian vulnerable populations.

Author

Lopes-Araújo, Amanda, Arrifano, Gabriela P., Macchi, Barbarella M., Augusto-Oliveira, Marcus, Santos-Sacramento, Letícia, Rodríguez Martín-Doimeadios, Rosa C., Jiménez-Moreno, María, Martins Filho, Arnaldo J., Alvarez-Leite, Jacqueline I., Oriá, Reinaldo B., do Nascimento, José Luiz M., and Crespo-Lopez, Maria Elena

Published
2023
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40. HBM4EU-MOM: Prenatal methylmercury-exposure control in five countries through suitable dietary advice for pregnancy – Study design and characteristics of participants

Author

Katsonouri, Andromachi, Gabriel, Catherine, Esteban López, Marta, Namorado, Sonia, Halldorsson, Thorhallur I., Snoj Tratnik, Janja, Rodriguez Martin, Laura, Karakoltzidis, Achilleas, Chatzimpaloglou, Anthoula, Giannadaki, Despina, Anastasi, Elena, Thoma, Anthi, Domínguez-Morueco, Noelia, Cañas Portilla, Ana I., Jacobsen, Eva, Assunção, Ricardo, Peres, Maria, Santiago, Susana, Nunes, Carla, Pedraza-Diaz, Susana, Iavicoli, Ivo, Leso, Veruscka, Lacasaña, Marina, González-Alzaga, Beatriz, Horvat, Milena, Sepai, Ovnair, Castano, Argelia, Kolossa-Gehring, Marike, Karakitsios, Spyros, and Sarigiannis, Dimosthenis

Published
2023
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44. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.

Author

Rodriguez-Martin, Bernardo, Alvarez, Eva G, Baez-Ortega, Adrian, Zamora, Jorge, Supek, Fran, Demeulemeester, Jonas, Santamarina, Martin, Ju, Young Seok, Temes, Javier, Garcia-Souto, Daniel, Detering, Harald, Li, Yilong, Rodriguez-Castro, Jorge, Dueso-Barroso, Ana, Bruzos, Alicia L, Dentro, Stefan C, Blanco, Miguel G, Contino, Gianmarco, Ardeljan, Daniel, Tojo, Marta, Roberts, Nicola D, Zumalave, Sonia, Edwards, Paul A, Weischenfeldt, Joachim, Puiggròs, Montserrat, Chong, Zechen, Chen, Ken, Lee, Eunjung Alice, Wala, Jeremiah A, Raine, Keiran M, Butler, Adam, Waszak, Sebastian M, Navarro, Fabio CP, Schumacher, Steven E, Monlong, Jean, Maura, Francesco, Bolli, Niccolo, Bourque, Guillaume, Gerstein, Mark, Park, Peter J, Wedge, David C, Beroukhim, Rameen, Torrents, David, Korbel, Jan O, Martincorena, Iñigo, Fitzgerald, Rebecca C, Van Loo, Peter, Kazazian, Haig H, Burns, Kathleen H, PCAWG Structural Variation Working Group, Campbell, Peter J, Tubio, Jose MC, and PCAWG Consortium

Subjects
PCAWG Structural Variation Working Group, PCAWG Consortium, Humans, Neoplasms, Retroelements, Gene Rearrangement, Long Interspersed Nucleotide Elements, Genome, Human, Carcinogenesis, Genetics, Digestive Diseases, Human Genome, Cancer, Rare Diseases, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types. Long interspersed nuclear element (LINE-1; L1 hereafter) insertions emerged as the first most frequent type of somatic structural variation in esophageal adenocarcinoma, and the second most frequent in head-and-neck and colorectal cancers. Aberrant L1 integrations can delete megabase-scale regions of a chromosome, which sometimes leads to the removal of tumor-suppressor genes, and can induce complex translocations and large-scale duplications. Somatic retrotranspositions can also initiate breakage-fusion-bridge cycles, leading to high-level amplification of oncogenes. These observations illuminate a relevant role of L1 retrotransposition in remodeling the cancer genome, with potential implications for the development of human tumors.

Published
2020

45. Pan-cancer analysis of whole genomes

Author

Campbell, Peter J, Getz, Gad, Korbel, Jan O, Stuart, Joshua M, Jennings, Jennifer L, Stein, Lincoln D, Perry, Marc D, Nahal-Bose, Hardeep K, Ouellette, BF Francis, Li, Constance H, Rheinbay, Esther, Nielsen, G Petur, Sgroi, Dennis C, Wu, Chin-Lee, Faquin, William C, Deshpande, Vikram, Boutros, Paul C, Lazar, Alexander J, Hoadley, Katherine A, Louis, David N, Dursi, L Jonathan, Yung, Christina K, Bailey, Matthew H, Saksena, Gordon, Raine, Keiran M, Buchhalter, Ivo, Kleinheinz, Kortine, Schlesner, Matthias, Zhang, Junjun, Wang, Wenyi, Wheeler, David A, Ding, Li, Simpson, Jared T, O'Connor, Brian D, Yakneen, Sergei, Ellrott, Kyle, Miyoshi, Naoki, Butler, Adam P, Royo, Romina, Shorser, Solomon I, Vazquez, Miguel, Rausch, Tobias, Tiao, Grace, Waszak, Sebastian M, Rodriguez-Martin, Bernardo, Shringarpure, Suyash, Wu, Dai-Ying, Demidov, German M, Delaneau, Olivier, Hayashi, Shuto, Imoto, Seiya, Habermann, Nina, Segre, Ayellet V, Garrison, Erik, Cafferkey, Andy, Alvarez, Eva G, Maria Heredia-Genestar, Jose, Muyas, Francesc, Drechsel, Oliver, Bruzos, Alicia L, Temes, Javier, Zamora, Jorge, Baez-Ortega, Adrian, Kim, Hyung-Lae, Mashl, R Jay, Ye, Kai, DiBiase, Anthony, Huang, Kuan-lin, Letunic, Ivica, McLellan, Michael D, Newhouse, Steven J, Shmaya, Tal, Kumar, Sushant, Wedge, David C, Wright, Mark H, Yellapantula, Venkata D, Gerstein, Mark, Khurana, Ekta, Marques-Bonet, Tomas, Navarro, Arcadi, Bustamante, Carlos D, Siebert, Reiner, Nakagawa, Hidewaki, Easton, Douglas F, Ossowski, Stephan, Tubio, Jose MC, De La Vega, Francisco M, Estivill, Xavier, Yuen, Denis, Mihaiescu, George L, Omberg, Larsson, Ferretti, Vincent, Sabarinathan, Radhakrishnan, Pich, Oriol, Gonzalez-Perez, Abel, Weiner, Amaro Taylor, Fittall, Matthew W, Demeulemeester, Jonas, Tarabichi, Maxime, and Roberts, Nicola D

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Bioinformatics and Computational Biology, Genetics, Oncology and Carcinogenesis, Cancer Genomics, Biotechnology, Human Genome, Cancer, Prevention, 2.1 Biological and endogenous factors, Cell Proliferation, Cellular Senescence, Chromothripsis, Cloud Computing, DNA Mutational Analysis, Evolution, Molecular, Female, Genome, Human, Genomics, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Information Dissemination, Male, Mutagenesis, Mutation, Neoplasms, Oncogenes, Promoter Regions, Genetic, RNA Splicing, Reproducibility of Results, Telomerase, Telomere, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, General Science & Technology
Abstract

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10-18.

Published
2020

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