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The Cuban Twin Registry: Initial Findings and Perspectives
- Beatriz Marcheco-Teruel, Marcia Cobas-Ruiz, Niviola Cabrera-Cruz, Araceli Lantigua-Cruz, Elsa García-Castillo, Roberto Lardoeyt-Ferrer, Zoe Robaina-Jiménez, Evelyn Fuentes-Smith, Francisco Morales-Calatayud, María Teresa Lemus-Valdés, Miriam Portuondo-Sao, Lenier Comas-Pérez, Juan M. Pérez-Crispí, Thais Díaz-De Villal Villa, Emelia Icart-Perera, Aida Jordán-Hernández, Agustín Lage-Castellanos, Sergio Rabell-Piera, Juan de Jesús Llibre-Rodríguez, Pedro Valdés-Sosa, Mitchell Valdés-Sosa
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- Journal:
- Twin Research and Human Genetics / Volume 16 / Issue 1 / February 2013
- Published online by Cambridge University Press:
- 11 December 2012, pp. 98-103
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The Cuban Twin Registry is a nation-wide, prospective, population-based twin registry comprising all zygosity types and ages. It was initiated in 2004 to study genetic and environmental contributions to complex diseases with high morbidity and mortality in the Cuban population. The database contains extensive information from 55,400 twin pairs enrolled in the period 2004–2006. Additionally, 2,600 new multiple births have been included from 2007 to date. In the past 4 years, more than 130 studies have been carried out using the registry with a classical genetic epidemiological approach in which concordance rates for monozygotic and dizygotic twins and heritability of various disease traits were estimated. This article summarizes the history, registry's methodology, recent research findings, and future directions of work.
Genome-Wide Association Study for Ovarian Cancer Susceptibility Using Pooled DNA
- Yi Lu, Xiaoqing Chen, Jonathan Beesley, Sharon E. Johnatty, Anna deFazio, Australian Ovarian Cancer Study (AOCS) Study Group, Sandrina Lambrechts, Diether Lambrechts, Evelyn Despierre, Ignace Vergotes, Jenny Chang-Claude, Rebecca Hein, Stefan Nickels, Shan Wang-Gohrke, Thilo Dörk, Matthias Dürst, Natalia Antonenkova, Natalia Bogdanova, Marc T. Goodman, Galina Lurie, Lynne R. Wilkens, Michael E. Carney, Ralf Butzow, Heli Nevanlinna, Tuomas Heikkinen, Arto Leminen, Lambertus A. Kiemeney, Leon F.A.G. Massuger, Anne M. van Altena, Katja K. Aben, Susanne Krüger Kjaer, Estrid Høgdall, Allan Jensen, Angela Brooks-Wilson, Nhu Le, Linda Cook, Madalene Earp, Linda Kelemen, Douglas Easton, Paul Pharoah, Honglin Song, Jonathan Tyrer, Susan Ramus, Usha Menon, Alexandra Gentry-Maharaj, Simon A. Gayther, Elisa V. Bandera, Sara H. Olson, Irene Orlow, Lorna Rodriguez-Rodriguez, Stuart Macgregor, Georgia Chenevix-Trench
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- Journal:
- Twin Research and Human Genetics / Volume 15 / Issue 5 / October 2012
- Published online by Cambridge University Press:
- 13 July 2012, pp. 615-623
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Recent Genome-Wide Association Studies (GWAS) have identified four low-penetrance ovarian cancer susceptibility loci. We hypothesized that further moderate- or low-penetrance variants exist among the subset of single-nucleotide polymorphisms (SNPs) not well tagged by the genotyping arrays used in the previous studies, which would account for some of the remaining risk. We therefore conducted a time- and cost-effective stage 1 GWAS on 342 invasive serous cases and 643 controls genotyped on pooled DNA using the high-density Illumina 1M-Duo array. We followed up 20 of the most significantly associated SNPs, which are not well tagged by the lower density arrays used by the published GWAS, and genotyping them on individual DNA. Most of the top 20 SNPs were clearly validated by individually genotyping the samples used in the pools. However, none of the 20 SNPs replicated when tested for association in a much larger stage 2 set of 4,651 cases and 6,966 controls from the Ovarian Cancer Association Consortium. Given that most of the top 20 SNPs from pooling were validated in the same samples by individual genotyping, the lack of replication is likely to be due to the relatively small sample size in our stage 1 GWAS rather than due to problems with the pooling approach. We conclude that there are unlikely to be any moderate or large effects on ovarian cancer risk untagged by less dense arrays. However, our study lacked power to make clear statements on the existence of hitherto untagged small-effect variants.
Contributors
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- By R. J. Aitken, Gokhan Akkoyunlu, David F. Albertini, Christiani A. Amorim, R. A. Anderson, Baris Ata, Pedro N. Barri, Mohamed A. Bedaiwy, Rosita Bergström, Veronica Bianchi, Montserrat Boada, Paolo Boffetta, Andrea Borini, Karina Braga Ribeiro, Peter R. Brinsden, Ralph L. Brinster, Jason G. Bromer, A. L. Caplan, Chian Ri-Cheng, Ina N. Cholst, A. Ciobanu, Megan Clowse, Ana Cobo, Susannah C. Copland, John K. Critser, B. J. Curry, Giuseppe Del Priore, M. De Vos, Marie-Madeleine Dolmans, Javier Domingo, Jacques Donnez, David H. Edgar, Nanette R. Elster, Carol Fabian, Gregory M. Fahy, Tommaso Falcone, Debra Friedman, Jill P. Ginsberg, Debra A. Gook, Julie R. Gralow, Elizabeth Grill, Sebastien Gouy, Xu Han, Lisa M. Harlan-Williams, Outi Hovatta MD, Wayland Hsiao, Zhongwei Huang, E. Isachenko, V. Isachenko, Roy A. Jensen, I. I. Katkov, S. Samuel Kim, Jennifer Klemp, Larissa A. Korde, R. Kreienberg, Srinivasan Krishnamurthy, Juergen Liebermann, J. Ryan Martin, Elizabeth A. McGee, Marie McLaughlin, P. Mathevet, D. Meirow, Philippe Morice, Steven F. Mullen, Kutluk Oktay, Pasquale Patrizio, Antonio Pellicer, Pinki K. Prasad, Kenny A. Rodriguez-Wallberg, Erin Rohde, Allison B. Rosen, Zev Rosenwaks, María Sánchez, R. Sanchez, Glenn L. Schattman, Peter N. Schlegel, Einat Shalom-Paz, Lonnie D. Shea, Gunapala Shetty, Jill Simmons, Carrie A. Smith, J. Smitz, Miquel Solé, Jean Squifflet, Shane R. Stecklein, Jerome F. Strauss, David J. Tagler, Seang Lin Tan, Evelyn E. Telfer, Sreedhar Thirumala, Michael J. Tucker, Catherine Uzan, Anne Van Langendonckt, Anna Veiga, W. H. B. Wallace, Wenjia Wang, Brent Waters, Dagan Wells, Teresa K. Woodruff, Erik Woods, Christine Wyns
- Edited by Jacques Donnez, Université Catholique de Louvain, Belgium, S. Samuel Kim, University of Kansas
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- Book:
- Principles and Practice of Fertility Preservation
- Published online:
- 04 February 2011
- Print publication:
- 03 February 2011, pp x-xiv
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Contributors
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- By Jennifer Alvarez, Ananda B. Amstadter, Metin Başoğlu, David M. Benedek, Charles C. Benight, George A. Bonanno, Evelyn J. Bromet, Richard A. Bryant, Barbara Lopes Cardozo, M. L. Somchai Chakkraband, Claude Chemtob, Roman Cieslak, Lauren M. Conoscenti, Joan M. Cook, Judith Cukor, Carla Kmett Danielson, JoAnn Difede, Charles DiMaggio, Anja J.E. Dirkzwager, Cristiane S. Duarte, Jon D. Elhai, Diane L. Elmore, Yael L.E. Errera, Julian D. Ford, Carol S. Fullerton, Sandro Galea, Freya Goodhew, Neil Greenberg, Lindsay Greene, Linda Grievink, Michael J. Gruber, Sumati Gupta, Johan M. Havenaar, Alesia O. Hawkins, Clare Henn-Haase, Kimberly Eaton Hoagwood, Christina W. Hoven, Sabra S. Inslicht, Krzysztof Kaniasty, Ronald C. Kessler, Rachel Kimerling, Richard V. King, Rolf J. Kleber, Jessica Mass Levitt, Brett T. Litz, Maria Livanou, Katelyn P. Mack, Paula Madrid, Shira Maguen, Paul Maguire, Donald J. Mandell, Charles R. Marmar, Andrea R. Maxwell, Shannon E. McCaslin, Alexander C. McFarlane, Thomas J. Metzler, Summer Nelson, Yuval Neria, Elana Newman, Thomas C. Neylan, Fran H. Norris, Carol S. North, Lawrence A. Palinkas, Benjaporn Panyayong, Maria Petukhova, Betty Pfefferbaum, Marleen Radigan, Beverley Raphael, James Rodriguez, G. James Rubin, Kenneth J. Ruggiero, Ebru Şalcıoğlu, Nancy A. Sampson, Arieh Y. Shalev, Bruce Shapiro, Laura M. Stough, Prawate Tantipiwatanaskul, Warunee Thienkrua, Phebe Tucker, J. Blake Turner, Robert J. Ursano, Bellis van den Berg, Peter G. van der Velden, Frits van Griensven, Miranda Van Hooff, Edward Waldrep, Philip S. Wang, Simon Wessely, Leslie H. Wind, C. Joris Yzermans, Heidi M. Zinzow
- Edited by Yuval Neria, Columbia University, New York, Sandro Galea, University of Michigan, Ann Arbor, Fran H. Norris
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- Book:
- Mental Health and Disasters
- Published online:
- 07 May 2010
- Print publication:
- 20 July 2009, pp xi-xvi
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An Outbreak of Viral Gastroenteritis in a Nursing Home: Importance of Excluding Ill Employees
- Evelyn M. Rodriguez, Colleen Parrott, Henry Rolka, Stephan S. Monroe, Diane M. Dwyer
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- Journal:
- Infection Control & Hospital Epidemiology / Volume 17 / Issue 9 / September 1996
- Published online by Cambridge University Press:
- 02 January 2015, pp. 587-592
- Print publication:
- September 1996
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Background:
In May 1994, 43 persons in a nursing home were reported with gastroenteritis. An outbreak investigation was conducted to determine risk factors for gastroenteritis among residents and staff.
Methods:Data were analyzed using contingency tables; relative risks (RR) and statistical significance were determined with Fisher's Exact Test. The chi-squared statistic to perform a goodness of fit test for the binomial distribution was used to determine whether cases occurred randomly and independently of each other. Stools were tested for bacterial enteric pathogens, ova, and parasites and were examined by electron microscopy, Southern hybridization, and reverse transcription-polymerase chain reaction. Paired sera were collected to detect fourfold rises in antibody titer by enzyme immunoassay against Norwalk viruses.
Results:Of 121 residents, 62 (51%) had gastroenteritis, as did 64 (47%) of the 136 staff. The index case was a nurse who became ill at work and continued to work, while symptomatic, for another 2 days. Only residents who had received medications from this nurse between May 17 and May 20 became ill on the first day of the outbreak (13 of 35 versus 0 of 5). Nurses and nurse aides were more likely than employees without direct resident contact to be cases (46 of 68 versus 18 of 58; RR, 2.18;P<.001). Bacterial stool cultures and parasite examinations were negative. Results of electron microscopy, polymerase chain reaction with Southern hybridization, and enzyme immunoassay indicated the causative agent was a small, round, structured virus similar to the Snow Mountain Agent.
Conclusion:To minimize outbreaks in nursing homes, we recommend that ill staff be excluded from work until symptoms resolve.