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1. A case of persistent bacteraemia by Ralstonia mannitolilytica and Ralstonia pickettii in an intensive care unit

Author

Basso,Monica, Venditti,Carolina, Raponi,Giammarco, Navazio,Anna Sara, Alessandri,Francesco, Giombini,Emanuela, Nisii,Carla, Di Caro,Antonino, Venditti,Mario, Basso,Monica, Venditti,Carolina, Raponi,Giammarco, Navazio,Anna Sara, Alessandri,Francesco, Giombini,Emanuela, Nisii,Carla, Di Caro,Antonino, and Venditti,Mario

Abstract

Monica Basso,1,* Carolina Venditti,2,* Giammarco Raponi,3 Anna Sara Navazio,3 Francesco Alessandri,4 Emanuela Giombini,2 Carla Nisii,2 Antonino Di Caro,2 Mario Venditti31Department of Molecular Medicine, University of Padova, Padova, Italy; 2Laboratory of Microbiology, L. Spallanzani National Institute for Infectious Diseases, Rome, Italy; 3Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome Italy; 4Department of Anesthesia and Intensive Care Medicine, Sapienza University of Rome, Rome, Italy*These authors contributed equally to this workAbstract: The Ralstonia spp. genus is a group of non-fermentative, Gram-negative bacteria often resistant to many antibiotics, which are emerging as opportunistic pathogens frequently associated with infections in hospital settings. We present herein a case of combined R. pickettii and R. mannitolilytica persisting and relapsing bacteraemia, possibly caused by a septic arterial thrombosis secondary to the rupture of an internal carotid artery aneurysm. Microbiology studies showed that both Ralstonia isolates produced biofilm and carried class D oxacillinase genes. When confronted with infections caused by members of the Ralstonia genus, identification to the species level is crucial for correct clinical management, as the two species show different antibiotic susceptibility patterns.Keywords: Ralstonia pickettii, Ralstonia mannitolilytica, bacteraemia, endovascular infection

Published
2019

2. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Author

Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., Ottini, Laura, Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., and Ottini, Laura

Abstract

PurposeBRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigatedfor the first time to our knowledgeassociations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/2 mutations and implications for cancer risk prediction.Materials and MethodsWe genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights.ResultsIn male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 x 10(-6)). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 x 10(-9)). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively.ConclusionPRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

Published
2017

3. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Author

Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., Ottini, Laura, Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I., Aittomaeki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith, Gutierrez-Enriquez, Sara, Diez, Orland, Teule, Alex, Izquierdo, Angel, Darder, Esther, Brunet, Joan, Del Valle, Jesus, Feliubadalo, Lidia, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Sunde, Lone, Jensen, Uffe Birk, Pedersen, Inge Sokilde, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian, James, Paul, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Schmutzler, Rita K., Antoniou, Antonis C., and Ottini, Laura

Abstract

PurposeBRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigatedfor the first time to our knowledgeassociations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/2 mutations and implications for cancer risk prediction.Materials and MethodsWe genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights.ResultsIn male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 x 10(-6)). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 x 10(-9)). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively.ConclusionPRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

Published
2017

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