Citations

Mayo Clinic

Clear

1899 citation(s) found for "Núñez, Sara".

Left Internal Mammary Artery Versus Coronary Stents: Impact on Downstream Coronary Stenoses and Conduit Patency
Matsuzawa, Yasushi , Sara, Jaskanwal Deep Singh , Kwon, Taek‐Geun , Sun, Tao , Lennon, Ryan J. , Bell, Malcolm R. , Daly, Richard C. , Lerman, Lilach O. , Locker, Chaim, Guddeti, Raviteja R, Sara, Jaskanwal D. S., Lee, Seung-Jin, Zhang, Ming , Guddeti, Raviteja , Liu, Zhi Hui , Lee, Seung Jin , Schaff, Hartzell V. , Lerman, Amir

Journal of the American Heart Association | September 25, 2016 | Volume: 5 | Issue: 9 | Pages: No page available

10.1161/jaha.116.003568 | PMID 27664803 Get It

Background The study compared downstream coronary and conduit disease progression in the left anterior descending coronary artery treated with coronary artery bypass grafting using the left internal mammary artery ( LIMA ) versus percutaneous coronary intervention with bare metal stent ( BMS ) or drug eluting stent ( DES ). Methods and Results A total of 12 301 consecutive patients underwent isolated primary coronary revascularization, of which 2386 met our inclusion criteria (Percutaneous coronary intervention, n=1450; coronary artery bypass grafting, n=936). Propensity score analysis matched 628 patients, of which 468 were treated to the left anterior descending with coronary artery bypass grafting with LIMA (n=314), percutaneous coronary intervention with BMS (n=94), and DES (n=60). Coronary angiograms were analyzed by quantitative coronary angiography ( QCA ; n=433). Cumulative downstream coronary and conduit disease progression were estimated by Kaplan–Meier method and effect of treatment type by Cox proportional hazard models. Patients treated with LIMA had significantly lower risk of downstream coronary disease progression at follow‐up angiogram compared with BMS and DES (hazard ratio [ HR ] [95% CI ], 0.34; [0.20–0.59]; P =0.0002; and HR [95% CI ], 0.39; [0.20–0.79]; P =0.01, respectively). LIMA was associated with a lower risk of conduit disease progression compared to BMS and DES ( HR [95% CI ], 0.18; [0.12–0.28]; P <0.001; and HR [95% CI ], 0.27; [0.16–0.46]; P <0.001, respectively). BMS was associated with higher HR for downstream coronary and conduit disease progression compared with DES , but the difference did not reach statistical significance ( HR [95% CI], 1.13; [0.57–2.36]; P =0.73; and HR [95% CI ], 1.46; [0.88–2.50]; P =0.14, respectively). Conclusions LIMA grafting to left anterior descending is associated with significantly lower risk of downstream coronary and conduit disease progression compared to percutaneous coronary intervention with BMS and DES .
Team Cognition As a Means to Improve Care Delivery in Critically Ill Patients With Cancer After Hematopoietic Cell Transplantation
McNeese, Nathan J. , Khera, Nandita , Wordingham, Sara E., Arring, Noël , Nyquist, Sharon, Gentry, A.E., Sen, Ayan , Gentry, Amy, Tomlinson, Brian, Cooke, Nancy J, Tomlinson, Brian , Cooke, Nancy J.

Journal of Oncology Practice | September 21, 2016 | Volume: 12 | Issue: 11 | Pages: 1091-1099

10.1200/jop.2016.013672 | PMID 27650839 Get It

Hematopoietic cell transplantation (HCT) is an important and complex treatment modality for a variety of hematologic malignancies and some solid tumors. Although outcomes of patients who have undergone HCT and require care in intensive care units (ICUs) have improved over time, mortality rates remain high and there are significant associated costs. Lack of a team-based approach to care, especially during critical illness, is detrimental to patient autonomy and satisfaction, and to team morale, ultimately leading to poor quality of care. In this manuscript, we describe the case of a patient who had undergone HCT and was in the ICU setting, where inconsistent team interaction among the various stakeholders delivering care resulted in a lack of shared goals and poor outcomes. Team cognition is cognitive processing at the team level through interactions among team members and is reflected in dynamic communication and coordination behaviors. Although the patient received multidisciplinary care as needed in a medically complicated case, a lack of team cognition and, particularly, inconsistent communication among the dynamic teams caring for the patient, led to mixed messages being delivered with high-cost implications for the health-care system and the family. This article highlights concepts and recommendations that begin a necessary in-depth assessment of implications for clinical care and initiate a research agenda that examines the effects of team cognition on HCT teams, and, more generally, critical care of the patient with cancer.
Alcohol consumption and prostate cancer incidence and progression: A Mendelian randomisation study
Brunner, Clair , Davies, Neil M , Martin, Richard M. , Eeles, Rosalind A. , Easton, Doug , Olama, Ali Amin Al , Benlloch, Sara, Muir, Kenneth , Grönberg, Henrik , Haiman, Christopher A. , Schleutker, Johanna , Nordestgaard, Børge G. , Travis, Ruth C. , Neal, David E. , Donovan, Jenny , Hamdy, Freddie C. , Pashayan, Nora , Stanford, Janet L. , Blot, William J. , Thibodeau, Stephen N. , Maier, Christiane, Kibel, Adam S. , Brenner, Hermann , Kaneva, Radka , Batra, Jyotsna , Teixeira, Manuel R. , Pandha, Hardev , Zuccolo, Luisa , Thibodeau, Stephen, Easton, Douglas F. , Kote‐Jarai, Zsofia , Giles, Graham G. , Wiklund, Fredrik E. , Khaw, Kay‐Tee , Cybulski, Cezary , Cannon‐Albright, Lisa , Park, Jong Y. , Teixeira, Manuel R , Eeles, Rosalind A , Donovan, Jenny L , Muir, Kenneth , Schleutker, Johanna , Travis, Ruth C , Pashayan, Nora , Brenner, Hermann , Martin, Richard M , Batra, Jyotsna

International Journal of Cancer | September 19, 2016 | Volume: 140 | Issue: 1 | Pages: 75-85

10.1002/ijc.30436 | PMID 27643404 Get It

Prostate cancer is the most common cancer in men in developed countries, and is a target for risk reduction strategies. The effects of alcohol consumption on prostate cancer incidence and survival remain unclear, potentially due to methodological limitations of observational studies. In this study, we investigated the associations of genetic variants in alcohol‐metabolising genes with prostate cancer incidence and survival. We analysed data from 23,868 men with prostate cancer and 23,051 controls from 25 studies within the international PRACTICAL Consortium. Study‐specific associations of 68 single nucleotide polymorphisms (SNPs) in 8 alcohol‐metabolising genes (Alcohol Dehydrogenases (ADHs) and Aldehyde Dehydrogenases (ALDHs)) with prostate cancer diagnosis and prostate cancer‐specific mortality, by grade, were assessed using logistic and Cox regression models, respectively. The data across the 25 studies were meta‐analysed using fixed‐effect and random‐effects models. We found little evidence that variants in alcohol metabolising genes were associated with prostate cancer diagnosis. Four variants in two genes exceeded the multiple testing threshold for associations with prostate cancer mortality in fixed‐effect meta‐analyses. SNPs within ALDH1A2 associated with prostate cancer mortality were rs1441817 (fixed effects hazard ratio, HRfixed = 0.78; 95% confidence interval (95%CI):0.66,0.91; p values = 0.002); rs12910509, HRfixed = 0.76; 95%CI:0.64,0.91; p values = 0.003); and rs8041922 (HRfixed = 0.76; 95%CI:0.64,0.91; p values = 0.002). These SNPs were in linkage disequilibrium with each other. In ALDH1B1, rs10973794 (HRfixed = 1.43; 95%CI:1.14,1.79; p values = 0.002) was associated with prostate cancer mortality in men with low‐grade prostate cancer. These results suggest that alcohol consumption is unlikely to affect prostate cancer incidence, but it may influence disease progression.
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
Wang, Zhaoming , Obazee, Ofure , Jia, Jinping , Childs, Erica J., Hoskins, Jason W. , Figlioli, Gisella , Collins, Irene , Chung, Charles C., Hautman, Christopher, Arslan, Alan A. , Bracci, Paige M. , Buring, Julie E. , Gallinger, Steven , Goodman, Gary E. , Goodman, Phyllis J. , Kamineni, Aruna , Kolonel, Laurence N. , Kulke, Matthew H. , Malats, Núria , Olson, Sara H. , Sesso, Howard D. , Visvanathan, Kala , Zheng, Wei , Abnet, Christian C. , Andreotti, Gabriella , Bueno-de-Mesquita, H. Bas, Basso, Daniela , Berndt, Sonja I. , Brenner, Hermann , Burdette, Laurie , Campa, Daniele , Caporaso, Neil E. , Capurso, Gabriele , Cavestro, Giulia Martina , Costello, Eithne , Elena, Joanne W. , Boggi, Ugo , Gaziano, J. Michael , Giovannucci, Edward L. , Gross, Myron D., Haiman, Christopher A. , Hassan, Manal M. , Helzlsouer, Kathy J., Hu, Nan , Hunter, David J., Iskierka‐Jazdzewska, Elżbieta , Jenab, Mazda , Klein, Eric A. , Krogh, Vittorio , Kupčinskas, Juozas , Kurtz, Robert C. , Landi, Maria Teresa , Mambrini, Andrea , Neale, Rachel Ε. , Oberg, Ann L. , Patel, Alpa V. , Peeters, Petra H., Peters, Ulrike , Pezzilli, Raffaele , Porta, Miquel , Purdue, Mark P. , Quirós, J. Ramón , Ríboli, Elio , Rothman, Nathaniel , Scarpa, Aldo , Scélo, Ghislaine , Strobel, Oliver , Małecka‐Panas, Ewa , Tavano, Francesca , Travis, Ruth C. , Thornquist, Mark, Tjønneland, Anne , Trichopoulos, Dimitrios, Vashist, Yogesh K. , Vodička, Pavel , Wactawski‐Wende, Jean , Wentzensen, Nicolas , Yu, Kai , Zeleniuch‐Jacquotte, Anne , Jacobs, Eric J. , Li, Donghui , Fuchs, Charles S. , Hoover, Robert N. , Hartge, Patricia, Petersen, Gloria M. , Stolzenberg-Solomon, Rachael S., Wolpin, Brian M. , Kraft, Peter , Canzian, Federico , Ámundadóttir, Laufey T. , Zhang, Mingfeng , Mocci, Evelina , Freeman, Laura E. Beane , Duell, Eric J. , Giles, Graham G. , White, Emily , Albanes, Demetrius , Brais, Lauren K , Boutron‐Ruault, Marie‐Christine , Bijlsma, Maarten F. , Cotterchio, Michelle , Gazouli, Maria , Goggins, Michael , Kaaks, Rudolf , Key, Tim , Khaw, Kay‐Tee , Kogevinas, Manolis , Kupcinskas, Juozas , Landi, Stefano , Marchand, Loı̈c Le , Männistö, Satu , Milne, Roger L. , Panico, Salvatore , Shu, Xiao‐Ou , Silverman, Debra T. , Souček, Pavel , Sund, Malin , Taylor, Philip R. , Tobias, Geoffrey S. , Yu, Kai , Kooperberg, Charles , Risch, Harvey A. , Chanock, Stephen Jacob , Klein, Alison P. , Amundadottir, Laufey , Malats, Nuria , Arslan, Alan A , Canzian, Federico , Tjønneland, Anne , Wactawski-Wende, Jean , Travis, Ruth C , Wang, Zhaoming , Abnet, Christian C , Visvanathan, Kala , Klein, Eric A , Brenner, Hermann , Strobel, Oliver , Jenab, Mazda , Kraft, Peter , Zheng, Wei , Iskierka-Jazdzewska, Elżbieta , Riboli, Elio , Vodicka, Pavel , Neale, Rachel E , Porta, Miquel , Zeleniuch-Jacquotte, Anne , Hoskins, Jason W , Tavano, Francesca

Oncotarget | September 16, 2016 | Volume: 7 | Issue: 41 | Pages: 66328-66343

10.18632/oncotarget.11041 | PMID 27579533 Get It

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C. , Goldgar, David E, Winqvist, Robert , Pylkäs, Katri , Michailidou, Kyriaki , Rensburg, Elizabeth J. van , Heikkinen, Tuomas , Hopper, John L. , Dörk, Thilo , Claes, Kathleen , Teo, Zhi L. , Radice, Paolo , Catucci, Irene, Peterlongo, Paolo , Odefrey, Fabrice, Dowty, James G., Schmidt, Marjanka K. , Hogervorst, Frans B.L., Verhoef, Senno, Carpenter, Jane, Clarke, Christine L. , Scott, Rodney J. , Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Bojesen, Stig E. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Menéndez, Primitiva, Brenner, Hermann , Stegmaier, Christa, Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Muranen, Taru , Aittomäki, Kristiina, Blomqvist, Carl , Bogdanova, Natalia , Antonenkova, Natalia, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els , Smeets, Dominiek, Beuselinck, Benoit , Floris, Giuseppe , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Vachon, Celine M. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei , Hunter, David J. , Lindström, Sara, Hankinson, Susan E. , Kraft, Peter , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Jukkola‐Vuorinen, Arja , Grip, Mervi, Kauppila, Saila , Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Darabi, Hatef, Eriksson, Mikael , Eccles, Diana M, Tapper, William , Gerty, Sue, Hooning, Maartje J. , Collée, J. Margriet, Tilanus‐Linthorst, Madeleine M.A., Li, Jingmei , Brand, Judith S. , Humphreys, Keith , Reed, Malcolm , Luccarini, Craig , Baynes, Caroline, Dunning, Alison M. , Hamann, Ute, Torres, Diana , Ulmer, Hans Ulrich, Rüdiger, Thomas , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Yannoukakos, Drakoulis , Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nick , Jones, Michael E. , González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Simard, Jacques , Dumont, Martine , Soucy, Penny, Eeles, Rosalind A. , Muir, Kenneth , Grönberg, Henrik , Schleutker, Johanna , Nordestgaard, Børge G. , Weischer, Maren , Travis, Ruth C. , Neal, David E. , Donovan, Jenny , Hamdy, Freddie C. , Stanford, Janet L. , Blot, William J. , Thibodeau, Stephen N. , Schaid, Daniel J. , Kelley, Joseph L., Maier, Christiane, Kibel, Adam S. , Butterbach, Katja, Kaneva, Radka , Batra, Jyotsna , Teixeira, Manuel R. , Olama, Ali Amin Al , Benlloch, Sara, Hartmann, Arndt , Hein, Alexander , Ruebner, Matthias , Lambrechts, Diether , Nieuwenhuysen, Els Van , Vergote, Ignace , Lambretchs, Sandrina, Rossing, Mary Anne, Nickels, Stefan , Eilber, Ursula, Wang‐Gohrke, Shan , Odunsi, Kunle , Sucheston‐Campbell, Lara, Friel, Grace , Lurie, Galina, Killeen, Jeffrey , Goodman, Marc T. , Runnebaum, Ingo B., Hillemanns, Peter , Pelttari, Liisa M. , Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., Heitz, Florian , Harter, Philipp , Kommoss, Stefan , Walsh, Christine , Lester, Jenny, Jensen, Allan , Høgdall, Estrid , Peissel, Bernard , Bernard, Loris, Goode, Ellen L. , Vierkant, Robert A. , Cunningham, Julie M. , Fogarty, Zachary C. , Kalli, Kimberly R., Liang, Dong , Lu, Karen H., Hildebrandt, Michelle A.T., Wu, Xifeng , Levine, Douglas A. , Bisogna, Maria, Iversen, Edwin S., Marks, Jeffrey R. , Akushevich, Lucy , Schildkraut, Joellen M. , Terry, Kathryn L. , Stampfer, Meir J. , Tworoger, Shelley S. , Olson, Sara H. , Salvesen, Helga B., Altena, Anne M. van , Aben, Katja K.H. , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Bean, Yukie T., Kelemen, Linda E., Le, Nhu D. , Górski, Bohdan , Menkiszak, Janusz , Høgdall, Claus , Lundvall, Lene, Nedergaard, Lotte , Engelholm, Svend Aage, Dicks, Ed , Campbell, Ian , McNeish, Iain A. , Whittemore, Alice S. , Rothstein, Joseph H. , McGuire, Valerie, Sieh, Weiva , Cai, Hui , Teten, Rachel Threet, Sutphen, Rebecca , McLaughlin, John R, Narod, Steven A., Phelan, Catherine M., Monteiro, Álvaro N.A. , Fenstermacher, David, Lin, Hui‐Yi , Sellers, Thomas A. , Chen, Y. Ann , Chen, Zhihua , Gayther, Simon A. , Ramus, Susan J. , Menon, Usha , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Moes-Sosnowska, Joanna , Kupryjańczyk, Jolanta , Song, Honglin , Winship, Ingrid , Chenevix‐Trench, Georgia , Tavtigian, Sean V. , Easton, Doug , Lu, Karen H. , Durocher, Francine , Eccles, Diana , Lambrechts, Diether , Vachon, Celine, Pankratz, Vernon S, Thibodeau, Stephen, Goldgar, David E, Couch, Fergus J. , Tischkowitz, Marc D. , Foulkes, William D. , Dennis, Joe , Nevanlinna, Heli , Reis‐Filho, Jorge S. , Tsimiklis, Helen , Broeks, Annegien , dos‐Santos‐Silva, Isabel , Yang, Rongxi , Ménégaux, F. , Sanchez, Marie, Pérez, José Ignacio Arias , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Arndt, Volker , Mannermaa, Arto, Spurdle, Amanda B. , Group, Australian Ovarian Cancer Study, Rudolph, Anja , Seibold, Petra , Olson, Janet E. , Vachon, Celine M. , Pankratz, V. Shane , Marchand, Loı̈c Le , Kristensen, Vessela N. , Hankinson, Susan E. , Hollestelle, Antoinette , Chanock, Stephen Jacob , Czene, Kamila , Eriksson, Mikael , Eccles, Diana M, Rafiq, Sajjad , Hooning, Maartje J. , Martens, John W.M. , Hall, Per N , Cox, Angela , Toland, Amanda Ewart , Ambrosone, Christine B. , Wiklund, Fredrik E. , Khaw, Kay‐Tee , Cybulski, Cezary , Cannon‐Albright, Lisa , Park, Jong, Kote‐Jarai, Zsofia , Renner, Stefan P. , Doherty, Jennifer A. , Wilkens, Lynne R. , Bützow, Ralf C. , Modugno, Francesmary , Moysich, Kirsten B., Bois, Andreas du , Karlan, Beth Y. , Kjær, Susanne K. , Bonanni, Bernardo , Fridley, Brooke L. , Larson, Melissa C. , Hildebrandt, Michelle A.T. , Dao, Fanny , Berchuck, Andrew , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Orlow, Irene , Bjørge, Line , Pejovic, Tanja B. , Brooks‐Wilson, Angela , Cook, Linda S. , Gronwald, Jacek , Tyrer, Jonathan P. , Paul, James , Siddiqui, Nadeem , Glasspool, Rosalind , Shu, Xiao‐Ou , McLaughlin, John R, Permuth, Jennifer B. , Gentry‐Maharaj, Aleksandra , Berg, David Van Den , Pharoah, Paul D.P. , Giles, Graham G. , Milne, Roger L. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Tworoger, Shelley S , van Rensburg, Elizabeth J , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Monteiro, Alvaro N , Swerdlow, Anthony J , Moysich, Kirsten , Radice, Paolo , Lissowska, Jolanta , Claes, Kathleen B M , Campbell, Ian G , Eeles, Rosalind A , Southey, Melissa C , Menkiszak, Janusz , Donovan, Jenny L , Muir, Kenneth , Schleutker, Johanna , Travis, Ruth C , Lin, Hui-Yi , Fogarty, Zachary C , Dunning, Alison M , Heitz, Florian , Jakubowska, Anna , Jones, Michael E , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Brenner, Hermann , Guénel, Pascal , Li, Jingmei , Muranen, Taru A , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Winship, Ingrid M , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Kraft, Peter , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Høgdall, Estrid , Høgdall, Claus K , Batra, Jyotsna , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Goodman, Marc T , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick

Journal of Medical Genetics | September 5, 2016 | Volume: 53 | Issue: 12 | Pages: 800-811

10.1136/jmedgenet-2016-103839 | PMID 27595995 Get It

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Transbronchial Cryobiopsy in Diffuse Lung Disease: Update for the Pathologist
Colby, Thomas V. , Cavazza, Alberto , Dubini, Alessandra, Poletti, Venerino , Tomassetti, Sara

Archives of Pathology & Laboratory Medicine | September 2, 2016 | Volume: 141 | Issue: 7 | Pages: 891-900

10.5858/arpa.2016-0233-ra | PMID 27588334 Get It

Context.— Transbronchial cryobiopsy has recently been proposed as an alternative to surgical biopsy in the diagnosis of diffuse lung disease. Objective.— To familiarize pathologists with transbronchial cryobiopsy, including what it is, how it is performed, how it compares to other techniques of lung biopsy in diffuse lung disease, what are the technical issues relating to it, what the complications are, how cryobiopsies should be interpreted, and the clinical usefulness of cryobiopsy. Data Sources.— All the available literature on cryobiopsy in diffuse lung disease through May 2016, primarily in the last 5 years, was reviewed, and some unpublished data known to the authors were included. Conclusions.— Cryobiopsies are considerably larger than forceps biopsies and allow pattern recognition approaching that of a surgical lung biopsy in many cases. Artifacts associated with cryobiopsy are minimal. In comparison with surgical lung biopsies, the diagnosis rate with cryobiopsies is lower, in the neighborhood of 80%, versus higher than 90% for surgical lung biopsies. Cryobiopsy is proposed as an alternative to surgical lung biopsy and a technique that may appreciably decrease the number of patients who require surgical lung biopsy for diagnosis. This is important because the mortality from cryobiopsy is very small (0.1% to date) compared with surgical lung biopsy (1.7% for elective procedures and considerably higher for nonelective procedures).
A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci
Rand, Kristin A. , Song, Chi , Déan, Eric, Serie, Daniel, Curtin, Karen , Sheng, Xin , Huff, Carol Ann , Bernal‐Mizrachi, Leon , Tomasson, Michael H. , Pawlish, Karen , Peters, Edward , Stram, Alex , Edlund, Christopher K., Conti, David V. , Zimmerman, Todd M., Hwang, Amie E. , Huntsman, Scott , Graff, John, Kong, Yinfei , Pregja, Silvana, Berndt, Sonja I. , Blot, William J. , Carpten, John D. , Chu, Lisa W., Diver, W. Ryan , Stevens, Victoria L. , Lieber, Michael R. , Goodman, Phyllis J. , Hennis, Anselm , Hsing, Ann W. , Mehta, Jayesh, Klein, Eric A. , Leske, Cristina, Murphy, Adam B. , Nemesure, Barbara , Strom, Sara S., Vij, Ravi , Rybicki, Benjamin A. , Stanford, Janet L. , Signorello, Lisa B., Witte, John S. , Bhatti, Parveen , Hu, Jennifer J. , Nyante, Sarah J. , Birmann, Brenda M. , Atanackovic, Djordje , Glenn, Martha, Jones, Brandt, Tricot, Guido , Kumar, Shaji , Wolf, Jeffrey L. , Halverson, Sandra L. , Rothman, Nathaniel , Brooks‐Wilson, Angela , Kolonel, Laurence N. , Severson, Richard K., Janakiraman, Nalini, Terebelo, Howard R. , Brown, Elizabeth E. , Roos, Anneclaire J. De , Mohrbacher, Ann , Spinelli, John J. , Munshi, Nikhil C. , Levy, Joan, Zonder, Jeffrey A. , Orlowski, Robert Z. , Camp, Nicola J. , Vachon, Celine M. , Ziv, Elad , Hazelett, Dennis J. , Haiman, Christopher A. , Serie, Daniel J, Hu, Donglei , Ailawadhi, Sikander , Singhal, Seema , Bock, Cathryn Hufford , Berg, David Van Den , Nooka, Ajay K. , Casey, Graham , Kittles, Rick A. , Kolb, Suzanne , Neslund-Dudas, Christine M , Ambrosone, Christine B. , John, Esther M. , Bernstein, Leslie , Zheng, Wei , Olshan, Andrew F. , Ziegler, Regina G. , Bandera, Elisa V. , Ingles, Sue A. , Press, Michael F. , Cannon‐Albright, Lisa , Martin, Thomas G. , Rothman, Nathaniel , Rajkumar, S. Vincent , Chanock, Stephen Jacob , Slager, Susan L. , Colditz, Graham A. , Giles, Graham G. , Chiu, Brian C.‐H. , Anderson, Kenneth C. , Orlowski, Robert Z. , Lonial, Sagar , Vachon, Celine M. , Stram, Daniel O. , Cozen, Wendy , Hazelett, Dennis J , Brooks-Wilson, Angela R , Klein, Eric A , De Roos, Anneclaire J , Nyante, Sarah , Bhatti, Parveen , Birmann, Brenda M , Ziv, Elad , Conti, David V

Cancer Epidemiology, Biomarkers & Prevention | September 2, 2016 | Volume: 25 | Issue: 12 | Pages: 1609-1618

10.1158/1055-9965.epi-15-1193 | PMID 27587788 Get It

Abstract Background: Genome-wide association studies (GWAS) in European populations have identified genetic risk variants associated with multiple myeloma. Methods: We performed association testing of common variation in eight regions in 1,318 patients with multiple myeloma and 1,480 controls of European ancestry and 1,305 patients with multiple myeloma and 7,078 controls of African ancestry and conducted a meta-analysis to localize the signals, with epigenetic annotation used to predict functionality. Results: We found that variants in 7p15.3, 17p11.2, 22q13.1 were statistically significantly (P &lt; 0.05) associated with multiple myeloma risk in persons of African ancestry and persons of European ancestry, and the variant in 3p22.1 was associated in European ancestry only. In a combined African ancestry–European ancestry meta-analysis, variation in five regions (2p23.3, 3p22.1, 7p15.3, 17p11.2, 22q13.1) was statistically significantly associated with multiple myeloma risk. In 3p22.1, the correlated variants clustered within the gene body of ULK4. Correlated variants in 7p15.3 clustered around an enhancer at the 3′ end of the CDCA7L transcription termination site. A missense variant at 17p11.2 (rs34562254, Pro251Leu, OR, 1.32; P = 2.93 × 10−7) in TNFRSF13B encodes a lymphocyte-specific protein in the TNF receptor family that interacts with the NF-κB pathway. SNPs correlated with the index signal in 22q13.1 cluster around the promoter and enhancer regions of CBX7. Conclusions: We found that reported multiple myeloma susceptibility regions contain risk variants important across populations, supporting the use of multiple racial/ethnic groups with different underlying genetic architecture to enhance the localization and identification of putatively functional alleles. Impact: A subset of reported risk loci for multiple myeloma has consistent effects across populations and is likely to be functional. Cancer Epidemiol Biomarkers Prev; 25(12); 1609–18. ©2016 AACR.
Progressive Brain Atrophy in Super-refractory Status Epilepticus
Hocker, Sara E. , Nagarajan, Elanagan , Hocker, Sara, Hanson, Dennis, Rabinstein, Alejandro A. , Hanson, Dennis P. , Britton, Jeffrey W.

JAMA Neurology | August 17, 2016 | Volume: 73 | Issue: 10 | Pages: 1201

10.1001/jamaneurol.2016.1572 | PMID 27533350 Get It

Extensive Mobile Thrombus of the Internal Carotid Discovered After Intravenous Thrombolysis
Fugate, Jennifer E. , Hocker, Sara E. , Scharf, Eugene L, Scharf, Eugene

The Neurohospitalist | August 11, 2016 | Volume: 7 | Issue: 2 | Pages: 96-99

10.1177/1941874416663280 | PMID 28400904 Get It

This case report describes a rare presentation of ischemic stroke secondary to an extensive internal carotid artery thrombus, subsequent therapeutic dilemma, and clinical management. A 58-year-old man was administered intravenous (IV) thrombolysis for right middle cerebral artery territory ischemic stroke symptoms. A computed tomography angiogram of the head and neck following thrombolysis showed a longitudinally extensive internal carotid artery thrombus originating at the region of high-grade calcific stenosis. Mechanical embolectomy was deferred because of risk of clot dislodgement and mild neurological symptoms. Recumbency and hemodynamic augmentation were used acutely to support cerebral perfusion. Anticoagulation was started 24 hours after thrombolysis. Carotid endarterectomy was completed successfully within 1 week of presentation. Clinical outcome was satisfactory with discharge modified Rankin Scale score 0. A longitudinally extensive carotid artery thrombus poses a risk of dislodgement and hemispheric stroke. Optimal management in these cases is not known with certainty. In our case, IV thrombolysis, hemodynamic augmentation, delayed anticoagulation, and carotid endarterectomy resulted in a favorable clinical outcome.