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DNA methylation profiles in adults born at extremely low birth weight
- Karen J. Mathewson, Patrick O. McGowan, Wilfred C. de Vega, Ryan J. Van Lieshout, Katherine M. Morrison, Saroj Saigal, Louis A. Schmidt
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- Journal:
- Development and Psychopathology / Volume 34 / Issue 1 / February 2022
- Published online by Cambridge University Press:
- 19 October 2020, pp. 19-36
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Effects of stresses associated with extremely preterm birth may be biologically “recorded” in the genomes of individuals born preterm via changes in DNA methylation (DNAm) patterns. Genome-wide DNAm profiles were examined in buccal epithelial cells from 45 adults born at extremely low birth weight (ELBW; ≤1000 g) in the oldest known cohort of prospectively followed ELBW survivors (Mage = 32.35 years, 17 male), and 47 normal birth weight (NBW; ≥2500 g) control adults (Mage = 32.43 years, 20 male). Sex differences in DNAm profiles were found in both birth weight groups, but they were greatly enhanced in the ELBW group (77,895 loci) versus the NBW group (3,424 loci), suggesting synergistic effects of extreme prenatal adversity and sex on adult DNAm profiles. In men, DNAm profiles differed by birth weight group at 1,354 loci on 694 unique genes. Only two loci on two genes distinguished between ELBW and NBW women. Gene ontology (GO) and network analyses indicated that loci differentiating between ELBW and NBW men were abundant in genes within biological pathways related to neuronal development, synaptic transportation, metabolic regulation, and cellular regulation. Findings suggest increased sensitivity of males to long-term epigenetic effects of extremely preterm birth. Group differences are discussed in relation to particular gene functions.
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- By Mitchell Aboulafia, Frederick Adams, Marilyn McCord Adams, Robert M. Adams, Laird Addis, James W. Allard, David Allison, William P. Alston, Karl Ameriks, C. Anthony Anderson, David Leech Anderson, Lanier Anderson, Roger Ariew, David Armstrong, Denis G. Arnold, E. J. Ashworth, Margaret Atherton, Robin Attfield, Bruce Aune, Edward Wilson Averill, Jody Azzouni, Kent Bach, Andrew Bailey, Lynne Rudder Baker, Thomas R. Baldwin, Jon Barwise, George Bealer, William Bechtel, Lawrence C. Becker, Mark A. Bedau, Ernst Behler, José A. Benardete, Ermanno Bencivenga, Jan Berg, Michael Bergmann, Robert L. Bernasconi, Sven Bernecker, Bernard Berofsky, Rod Bertolet, Charles J. Beyer, Christian Beyer, Joseph Bien, Joseph Bien, Peg Birmingham, Ivan Boh, James Bohman, Daniel Bonevac, Laurence BonJour, William J. Bouwsma, Raymond D. Bradley, Myles Brand, Richard B. Brandt, Michael E. Bratman, Stephen E. Braude, Daniel Breazeale, Angela Breitenbach, Jason Bridges, David O. Brink, Gordon G. Brittan, Justin Broackes, Dan W. Brock, Aaron Bronfman, Jeffrey E. Brower, Bartosz Brozek, Anthony Brueckner, Jeffrey Bub, Lara Buchak, Otavio Bueno, Ann E. Bumpus, Robert W. Burch, John Burgess, Arthur W. Burks, Panayot Butchvarov, Robert E. Butts, Marina Bykova, Patrick Byrne, David Carr, Noël Carroll, Edward S. Casey, Victor Caston, Victor Caston, Albert Casullo, Robert L. Causey, Alan K. L. Chan, Ruth Chang, Deen K. Chatterjee, Andrew Chignell, Roderick M. Chisholm, Kelly J. Clark, E. J. Coffman, Robin Collins, Brian P. Copenhaver, John Corcoran, John Cottingham, Roger Crisp, Frederick J. Crosson, Antonio S. Cua, Phillip D. Cummins, Martin Curd, Adam Cureton, Andrew Cutrofello, Stephen Darwall, Paul Sheldon Davies, Wayne A. Davis, Timothy Joseph Day, Claudio de Almeida, Mario De Caro, Mario De Caro, John Deigh, C. F. Delaney, Daniel C. Dennett, Michael R. DePaul, Michael Detlefsen, Daniel Trent Devereux, Philip E. Devine, John M. Dillon, Martin C. 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- 05 August 2015
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- Marijuana and Madness
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- 05 November 2011
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- By Rose Teteki Abbey, K. C. Abraham, David Tuesday Adamo, LeRoy H. Aden, Efrain Agosto, Victor Aguilan, Gillian T. W. Ahlgren, Charanjit Kaur AjitSingh, Dorothy B E A Akoto, Giuseppe Alberigo, Daniel E. Albrecht, Ruth Albrecht, Daniel O. Aleshire, Urs Altermatt, Anand Amaladass, Michael Amaladoss, James N. Amanze, Lesley G. Anderson, Thomas C. Anderson, Victor Anderson, Hope S. Antone, María Pilar Aquino, Paula Arai, Victorio Araya Guillén, S. Wesley Ariarajah, Ellen T. Armour, Brett Gregory Armstrong, Atsuhiro Asano, Naim Stifan Ateek, Mahmoud Ayoub, John Alembillah Azumah, Mercedes L. García Bachmann, Irena Backus, J. Wayne Baker, Mieke Bal, Lewis V. Baldwin, William Barbieri, António Barbosa da Silva, David Basinger, Bolaji Olukemi Bateye, Oswald Bayer, Daniel H. Bays, Rosalie Beck, Nancy Elizabeth Bedford, Guy-Thomas Bedouelle, Chorbishop Seely Beggiani, Wolfgang Behringer, Christopher M. Bellitto, Byard Bennett, Harold V. Bennett, Teresa Berger, Miguel A. Bernad, Henley Bernard, Alan E. Bernstein, Jon L. Berquist, Johannes Beutler, Ana María Bidegain, Matthew P. Binkewicz, Jennifer Bird, Joseph Blenkinsopp, Dmytro Bondarenko, Paulo Bonfatti, Riet en Pim Bons-Storm, Jessica A. Boon, Marcus J. Borg, Mark Bosco, Peter C. Bouteneff, François Bovon, William D. Bowman, Paul S. Boyer, David Brakke, Richard E. Brantley, Marcus Braybrooke, Ian Breward, Ênio José da Costa Brito, Jewel Spears Brooker, Johannes Brosseder, Nicholas Canfield Read Brown, Robert F. Brown, Pamela K. Brubaker, Walter Brueggemann, Bishop Colin O. Buchanan, Stanley M. Burgess, Amy Nelson Burnett, J. Patout Burns, David B. Burrell, David Buttrick, James P. Byrd, Lavinia Byrne, Gerado Caetano, Marcos Caldas, Alkiviadis Calivas, William J. Callahan, Salvatore Calomino, Euan K. Cameron, William S. Campbell, Marcelo Ayres Camurça, Daniel F. Caner, Paul E. Capetz, Carlos F. Cardoza-Orlandi, Patrick W. Carey, Barbara Carvill, Hal Cauthron, Subhadra Mitra Channa, Mark D. Chapman, James H. Charlesworth, Kenneth R. Chase, Chen Zemin, Luciano Chianeque, Philip Chia Phin Yin, Francisca H. Chimhanda, Daniel Chiquete, John T. Chirban, Soobin Choi, Robert Choquette, Mita Choudhury, Gerald Christianson, John Chryssavgis, Sejong Chun, Esther Chung-Kim, Charles M. A. Clark, Elizabeth A. Clark, Sathianathan Clarke, Fred Cloud, John B. Cobb, W. Owen Cole, John A Coleman, John J. Collins, Sylvia Collins-Mayo, Paul K. Conkin, Beth A. Conklin, Sean Connolly, Demetrios J. Constantelos, Michael A. Conway, Paula M. Cooey, Austin Cooper, Michael L. Cooper-White, Pamela Cooper-White, L. William Countryman, Sérgio Coutinho, Pamela Couture, Shannon Craigo-Snell, James L. Crenshaw, David Crowner, Humberto Horacio Cucchetti, Lawrence S. Cunningham, Elizabeth Mason Currier, Emmanuel Cutrone, Mary L. Daniel, David D. Daniels, Robert Darden, Rolf Darge, Isaiah Dau, Jeffry C. Davis, Jane Dawson, Valentin Dedji, John W. de Gruchy, Paul DeHart, Wendy J. 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Flowers, Carole Fontaine, David Ford, Mary Ford, Stephanie A. Ford, Jim Forest, William Franke, Robert M. Franklin, Ruth Franzén, Edward H. Friedman, Samuel Frouisou, Lorelei F. Fuchs, Jojo M. Fung, Inger Furseth, Richard R. Gaillardetz, Brandon Gallaher, China Galland, Mark Galli, Ismael García, Tharscisse Gatwa, Jean-Marie Gaudeul, Luis María Gavilanes del Castillo, Pavel L. Gavrilyuk, Volney P. Gay, Metropolitan Athanasios Geevargis, Kondothra M. George, Mary Gerhart, Simon Gikandi, Maurice Gilbert, Michael J. Gillgannon, Verónica Giménez Beliveau, Terryl Givens, Beth Glazier-McDonald, Philip Gleason, Menghun Goh, Brian Golding, Bishop Hilario M. Gomez, Michelle A. Gonzalez, Donald K. Gorrell, Roy Gottfried, Tamara Grdzelidze, Joel B. Green, Niels Henrik Gregersen, Cristina Grenholm, Herbert Griffiths, Eric W. Gritsch, Erich S. Gruen, Christoffer H. Grundmann, Paul H. Gundani, Jon P. Gunnemann, Petre Guran, Vidar L. Haanes, Jeremiah M. 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Nicholson, George W. E. Nickelsburg, Tatyana Nikolskaya, Damayanthi M. A. Niles, Bertil Nilsson, Nyambura Njoroge, Fidelis Nkomazana, Mary Beth Norton, Christian Nottmeier, Sonene Nyawo, Anthère Nzabatsinda, Edward T. Oakes, Gerald O'Collins, Daniel O'Connell, David W. Odell-Scott, Mercy Amba Oduyoye, Kathleen O'Grady, Oyeronke Olajubu, Thomas O'Loughlin, Dennis T. Olson, J. Steven O'Malley, Cephas N. Omenyo, Muriel Orevillo-Montenegro, César Augusto Ornellas Ramos, Agbonkhianmeghe E. Orobator, Kenan B. Osborne, Carolyn Osiek, Javier Otaola Montagne, Douglas F. Ottati, Anna May Say Pa, Irina Paert, Jerry G. Pankhurst, Aristotle Papanikolaou, Samuele F. Pardini, Stefano Parenti, Peter Paris, Sung Bae Park, Cristián G. Parker, Raquel Pastor, Joseph Pathrapankal, Daniel Patte, W. Brown Patterson, Clive Pearson, Keith F. Pecklers, Nancy Cardoso Pereira, David Horace Perkins, Pheme Perkins, Edward N. Peters, Rebecca Todd Peters, Bishop Yeznik Petrossian, Raymond Pfister, Peter C. Phan, Isabel Apawo Phiri, William S. F. Pickering, Derrick G. Pitard, William Elvis Plata, Zlatko Plese, John Plummer, James Newton Poling, Ronald Popivchak, Andrew Porter, Ute Possekel, James M. Powell, Enos Das Pradhan, Devadasan Premnath, Jaime Adrían Prieto Valladares, Anne Primavesi, Randall Prior, María Alicia Puente Lutteroth, Eduardo Guzmão Quadros, Albert Rabil, Laurent William Ramambason, Apolonio M. Ranche, Vololona Randriamanantena Andriamitandrina, Lawrence R. Rast, Paul L. Redditt, Adele Reinhartz, Rolf Rendtorff, Pål Repstad, James N. Rhodes, John K. Riches, Joerg Rieger, Sharon H. Ringe, Sandra Rios, Tyler Roberts, David M. Robinson, James M. Robinson, Joanne Maguire Robinson, Richard A. H. Robinson, Roy R. Robson, Jack B. Rogers, Maria Roginska, Sidney Rooy, Rev. Garnett Roper, Maria José Fontelas Rosado-Nunes, Andrew C. Ross, Stefan Rossbach, François Rossier, John D. Roth, John K. Roth, Phillip Rothwell, Richard E. Rubenstein, Rosemary Radford Ruether, Markku Ruotsila, John E. Rybolt, Risto Saarinen, John Saillant, Juan Sanchez, Wagner Lopes Sanchez, Hugo N. Santos, Gerhard Sauter, Gloria L. Schaab, Sandra M. Schneiders, Quentin J. Schultze, Fernando F. Segovia, Turid Karlsen Seim, Carsten Selch Jensen, Alan P. F. Sell, Frank C. Senn, Kent Davis Sensenig, Damían Setton, Bal Krishna Sharma, Carolyn J. Sharp, Thomas Sheehan, N. Gerald Shenk, Christian Sheppard, Charles Sherlock, Tabona Shoko, Walter B. Shurden, Marguerite Shuster, B. Mark Sietsema, Batara Sihombing, Neil Silberman, Clodomiro Siller, Samuel Silva-Gotay, Heikki Silvet, John K. Simmons, Hagith Sivan, James C. Skedros, Abraham Smith, Ashley A. Smith, Ted A. Smith, Daud Soesilo, Pia Søltoft, Choan-Seng (C. S.) Song, Kathryn Spink, Bryan Spinks, Eric O. Springsted, Nicolas Standaert, Brian Stanley, Glen H. Stassen, Karel Steenbrink, Stephen J. Stein, Andrea Sterk, Gregory E. Sterling, Columba Stewart, Jacques Stewart, Robert B. Stewart, Cynthia Stokes Brown, Ken Stone, Anne Stott, Elizabeth Stuart, Monya Stubbs, Marjorie Hewitt Suchocki, David Kwang-sun Suh, Scott W. Sunquist, Keith Suter, Douglas Sweeney, Charles H. Talbert, Shawqi N. Talia, Elsa Tamez, Joseph B. Tamney, Jonathan Y. Tan, Yak-Hwee Tan, Kathryn Tanner, Feiya Tao, Elizabeth S. Tapia, Aquiline Tarimo, Claire Taylor, Mark Lewis Taylor, Bishop Abba Samuel Wolde Tekestebirhan, Eugene TeSelle, M. Thomas Thangaraj, David R. Thomas, Andrew Thornley, Scott Thumma, Marcelo Timotheo da Costa, George E. “Tink” Tinker, Ola Tjørhom, Karen Jo Torjesen, Iain R. Torrance, Fernando Torres-Londoño, Archbishop Demetrios [Trakatellis], Marit Trelstad, Christine Trevett, Phyllis Trible, Johannes Tromp, Paul Turner, Robert G. Tuttle, Archbishop Desmond Tutu, Peter Tyler, Anders Tyrberg, Justin Ukpong, Javier Ulloa, Camillus Umoh, Kristi Upson-Saia, Martina Urban, Monica Uribe, Elochukwu Eugene Uzukwu, Richard Vaggione, Gabriel Vahanian, Paul Valliere, T. J. Van Bavel, Steven Vanderputten, Peter Van der Veer, Huub Van de Sandt, Louis Van Tongeren, Luke A. Veronis, Noel Villalba, Ramón Vinke, Tim Vivian, David Voas, Elena Volkova, Katharina von Kellenbach, Elina Vuola, Timothy Wadkins, Elaine M. Wainwright, Randi Jones Walker, Dewey D. Wallace, Jerry Walls, Michael J. Walsh, Philip Walters, Janet Walton, Jonathan L. Walton, Wang Xiaochao, Patricia A. Ward, David Harrington Watt, Herold D. Weiss, Laurence L. Welborn, Sharon D. Welch, Timothy Wengert, Traci C. West, Merold Westphal, David Wetherell, Barbara Wheeler, Carolinne White, Jean-Paul Wiest, Frans Wijsen, Terry L. Wilder, Felix Wilfred, Rebecca Wilkin, Daniel H. Williams, D. Newell Williams, Michael A. Williams, Vincent L. Wimbush, Gabriele Winkler, Anders Winroth, Lauri Emílio Wirth, James A. Wiseman, Ebba Witt-Brattström, Teofil Wojciechowski, John Wolffe, Kenman L. Wong, Wong Wai Ching, Linda Woodhead, Wendy M. Wright, Rose Wu, Keith E. Yandell, Gale A. Yee, Viktor Yelensky, Yeo Khiok-Khng, Gustav K. K. Yeung, Angela Yiu, Amos Yong, Yong Ting Jin, You Bin, Youhanna Nessim Youssef, Eliana Yunes, Robert Michael Zaller, Valarie H. Ziegler, Barbara Brown Zikmund, Joyce Ann Zimmerman, Aurora Zlotnik, Zhuo Xinping
- Edited by Daniel Patte, Vanderbilt University, Tennessee
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- The Cambridge Dictionary of Christianity
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- 05 August 2012
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- 20 September 2010, pp xi-xliv
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Community-associated methicillin-resistant Staphylococcus aureus infections at an Army training installation
- S. M. MORRISON-RODRIGUEZ, L. A. PACHA, J. E. PATRICK, N. N. JORDAN
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- Journal:
- Epidemiology & Infection / Volume 138 / Issue 5 / May 2010
- Published online by Cambridge University Press:
- 25 January 2010, pp. 721-729
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To assess the burden of community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) in a high-risk population, the monthly incidence of laboratory-confirmed MRSA in service members/trainees stationed at Fort Benning, Georgia, USA without hospitalization or surgery documented 30 days prior to infection was calculated for calendar years 2002–2007. Clinical management and antibiotic susceptibility patterns were also evaluated. By 2007, ~67% of S. aureus strains were MRSA, and ~82% of these were community-associated, primarily in trainees. In total, 3531 CA-MRSA infections were identified. Rates appeared to be seasonal, peaking at 42 cases/1000 soldiers in 2005, with rates remaining above 35/1000 soldiers thereafter. Increased prescription of effective antibiotics was documented. Susceptibility to clindamycin, ciprofloxacin, and levofloxacin decreased from 2002 to 2007 by 6%, 17%, and 14%, respectively. The sustained high prevalence of CA-MRSA observed highlights the need for more vigilant population-based counter-measures at military training installations.
Contributors
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- By Amelia Evoli, Ami K. Mankodi, Ana Ferreiro, Anders Oldfors, Anne K. Lampe, Anneke J. van der Kooi, Bernard Brais, Bertrand Fontaine, Bjarne Udd, Carina Wallgren-Pettersson, Caroline A. Sewry, Carsten G. Bönnemann, Cecilia Jimenez-Mallebera, Chad Heatwole, Charles A. Thornton, Corrado Angelini, David Hilton-Jones, Doreen Fialho, Duygu Selcen, Edward J. Cupler, Emma Ciafaloni, Enrico Bertini, Eric A. Shoubridge, Eric Logigian, Erin O’Ferrall, Eugenio Mercuri, Franco Taroni, Frank L. Mastaglia, Frederic Relaix, George Karpati, Giovanni Meola, Gisèle Bonne, Hannah R. Briemberg, Hanns Lochmüller, Heinz Jungbluth, Ichizo Nishino, Jenny E. Morgan, John Day, John Vissing, John T. Kissel, Kate Bushby, Leslie Morrison, Maria J. Molnar, Marianne de Visser, Marinos C. Dalakas, Mary Kay Floeter, Mariz Vainzof, Maxwell S. Damian, Michael G. Hanna, Michael Rose, Michael Sinnreich, Michael Swash, Miranda D. Grounds, Mohammed Kian Salajegheh, Nigel G. Laing, Patrick F. Chinnery, Rabi Tawil, Rénald Gilbert, Richard Orrell, Robert C. Griggs, Roberto Massa, Saiju Jacob, Shannon L. Venance, Stefano Di Donato, Stella Mitrani-Rosenbaum, Stephen Gee, Stuart Viegas, Susan C. Brown, Tahseen Mozaffar, Tanja Taivassalo, Valeria A. Sansone, Violeta Mihaylova, Yaacov Anziska, Zohar Argov
- George Karpati, McGill University, Montréal
- Edited by David Hilton-Jones, Kate Bushby, Robert C. Griggs
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- Disorders of Voluntary Muscle
- Published online:
- 26 February 2010
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- 21 January 2010, pp vii-x
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Callosally projecting neurons in the macaque monkey V1/V2 border are enriched in nonphosphorylated neurofilament protein
- Patrick R. Hof, Leslie G. Ungerleider, Michelle M. Adams, Maree J. Webster, Ricardo Gattass, Dana M. Blumberg, John H. Morrison
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- Visual Neuroscience / Volume 14 / Issue 5 / September 1997
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- 02 June 2009, pp. 981-987
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Previous immunohistochemical studies combined with retrograde tracing in macaque monkeys have demonstrated that corticocortical projections can be differentiated by their content of neurofilament protein. The present study analyzed the distribution of nonphosphorylated neurofilament protein in callosally projecting neurons located at the V1/V2 border. All of the retrogradely labeled neurons were located in layer III at the V1/V2 border and at an immediately adjacent zone of area V2. A quantitative analysis showed that the vast majority (almost 95%) of these interhemispheric projection neurons contain neurofilament protein immunoreactivity. This observation differs from data obtained in other sets of callosal connections, including homotypical interhemispheric projections in the prefrontal, temporal, and parietal association cortices, that were found to contain uniformly low proportions of neurofilament protein-immunoreactive neurons. Comparably, highly variable proportions of neurofilament protein-containing neurons have been reported in intrahemispheric corticocortical pathways, including feedforward and feedback visual connections. These results indicate that neurofilament protein is a prominent neurochemical feature that identifies a particular population of interhemispheric projection neurons at the V1/V2 border, and suggest that this biochemical attribute may be critical for the function of this subset of callosal neurons.
Contributors
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- By Donald Addington, Jean Addington, Kelly Allott, Amanda Baker, Gregor Berger, Michael Berk, Max Birchwood, Warrick J. Brewer, Peter Burnett, Tyrone Cannon, Andrew Chanen, Philippe Conus, Barbara Cornblatt, Thomas Craig, Alex Fornito, David Fowler, Shona M. Francey, John Gleeson, Susy Harrigan, Meredith Harris, Leanne Hides, Christian G. Huber, Henry J. Jackson, Anthony F. Jorm, Eóin Killackey, Joachim Klosterkötter, Martin Lambert, Tim Lambert, Shon Lewis, Don Linszen, Dan Lubman, Nellie Lucas, Craig Macneil, Ashok K. Malla, Max Marshall, Louise K. McCutcheon, Patrick D. McGorry, Catharine McNab, Maria Michail, Anthony P. Morrison, Merete Nordentoft, Ross M. G. Norman, Keith H. Nuechterlein, Christos Pantelis, Lisa J. Phillips, Richie Poulton, Paddy Power, Jo Robinson, Frauke Schultze-Lutter, Jim van Os, José Luis Vázquez-Barquero, Dennis Velakoulis, Darryl Wade, Daniel Weinberger, Durk Wiersma, Stephen J. Wood, Annemarie Wright, Murat Yücel, Alison R. Yung, Robert B. Zipursky
- Edited by Henry J. Jackson, University of Melbourne, Patrick D. McGorry
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- The Recognition and Management of Early Psychosis
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- 10 August 2009
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- 19 February 2009, pp xi-xvi
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Measures of dung bolus size for known-age African elephants (Loxodonta africana): implications for age estimation
- Thomas A. Morrison, Patrick I. Chiyo, Cynthia J. Moss, Susan C. Alberts
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- Journal of Zoology / Volume 266 / Issue 1 / May 2005
- Published online by Cambridge University Press:
- 27 April 2005, pp. 89-94
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- May 2005
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The availability of a population of mostly known-age African elephants Loxodonta africana from Amboseli National Park, Kenya, provided a unique opportunity to assess the use of dung bolus diameter for estimating age. A predictive equation for estimating dung bolus diameters from elephants of known age was derived and was found to follow the typical growth pattern exhibited by changes in shoulder height and foot length. The relationship between measurements of dung bolus and age was particularly strong when growth rates were high (age 0–25 years). The dung bolus growth curve from Amboseli elephants was similar to that derived from another wild population of African elephants, suggesting that dung bolus diameter can be used to assess age structure in areas where it is impossible to construct independent prediction curves of age and dung bolus.
Foreword by Helena Kennedy
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp xiii-xiv
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Summary
I am very pleased to have been asked to write the Foreword to this important and timely book. As Chair of the Human Genetics Commission I am only too aware of the impact of familial breast cancer, or indeed many other familial cancers, on our work.
The issues raised by an increased understanding of the genetics of breast cancer have formed part of our thinking on how to deal with issues of privacy and confidentiality, such as the provision of genetic information to family members. Moving beyond the clinical, we have also considered some of the issues concerning patenting of gene sequences, taking as one example the continuing debate about the BRCA1 and BRCA2 gene patents. In addition, we have considered familial breast cancer as one of several conditions on the radar of insurance companies before underwriting life or health insurance.
I am therefore pleased to see that a fellow member of the Human Genetics Commission, Professor Patrick Morrison, and his colleagues have so carefully and clearly set out many of these important issues in this book. I hope that it will be widely read by clinicians and those responsible for policy in all of these areas and that they will take note of the important messages herein.
Contents
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp vii-viii
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Frontmatter
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp i-vi
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20 - Breast cancer genetics: ethical, social and insurance issues
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- By Patrick J. Morrison, Belfast City Hospital NHS Trust, Belfast, UK, C. Michael Steel, University of St Andrews, Fife, UK
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp 339-371
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Summary
Background
A family history of breast cancer is now universally recognized as a potential risk factor, and demand for appropriate clinical services is fuelled by publicity in both the popular media and the professional literature. Within the past few years, breast cancer family clinics have sprung up in almost every major medical centre and all are hard-pressed to cope with the numbers of referrals (Thompson et al., 1995; Vasen et al., 1998; Hodgson et al., 1999). There has been little time to reflect on what constitutes an appropriate clinical service in this setting, while the pace of new developments on the molecular and epidemiological fronts has left clinicians struggling to interpret their relevance for patients. A critical reappraisal of the care currently offered to women who may be at increased genetic risk of breast cancer is therefore timely.
Are women misinformed?
Mammography and ovarian screening
Surveys in several countries have found that women coming forward to breast cancer family clinics want, above all else, access to mammographic screening (Julian-Reynier et al., 1996; Lalloo et al., 1998). For those judged to be above a certain level of risk, regular mammography is indeed usually provided, typically from age 30 or 35 years and at annual or 2-yearly intervals (Hodgson et al., 1999; Møller et al., 1999a). It remains the ‘gold standard’ for early detection of breast tumours but is far from perfect (Law, 1997). Data on the sensitivity of screening mammography for young women are very incomplete.
22 - Future directions
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- By Patrick J. Morrison, Belfast City Hospital Trust, Belfast, UK, Shirley V. Hodgson, Guy's Hospital, London, UK, Neva E. Haites, University of Aberdeen, UK
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp 384-392
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Summary
It is abundantly clear from the contents of this book that our understanding of the inherited aspects of cancer has increased enormously in the past decade. Epidemiological studies (Easton et al., 1995) demonstrate that familial clusters of common cancers could be due to: (1) germline mutations in rare, highly penetrant cancer susceptibility genes, (2) more common, less penetrant mutations, or (3) common environmental factors. It is likely that all of these mechanisms are important. Subsequent to the identification of BRCA1 and BRCA2 (Miki et al., 1994; Wooster et al., 1995), large collaborative studies of families with hereditary breast and ovarian cancer suggest that currently detectable germline mutations in these genes account for approximately 85% of families with six cases of breast cancer but only 41% of those with four to five cases, most families with two ovarian cancer (in addition to breast cancer) cases but 88% (69% due to BRCA1 mutations) with only one ovarian cancer case, while 77% of families with four female cases and one male case of breast cancer are due to BRCA2 and 19% of such families to BRCA1 mutations (Easton et al., 1995; Ford et al., 1998; Thorlacius et al., 1998). Thus a significant proportion of smaller families, particularly those with no cases of ovarian cancer, are likely to be due to polymorphic variants in other genes.
1 - Introduction
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- By Patrick J. Morrison, Belfast City Hospital Trust, Belfast, UK, Shirley V. Hodgson, Guy's Hospital, London, UK, Neva E. Haites, University of Aberdeen, UK
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp 3-5
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Summary
It has long been recognized that some very rare forms of cancer, such as retinoblastoma and neurofibromatosis, are caused by inherited genes. It is only within the last few years, however, that rapid progress has been made in understanding the role that inherited genes also play in determining a proportion of the more common cancers, including breast, colorectal and ovarian cancer. Although there is still uncertainty about the precise contribution of inherited predisposition genes to the incidence of these cancers, the available evidence suggests that breast, colorectal and ovarian cancer have a number of common genetic features.
A small proportion of these cancers (about 5%) are caused by inherited genes which, though comparatively rare, confer very high lifetime risks of developing cancer. In some cases these lifetime risks may be as high as 80%.
Cancers caused by these high penetrance genes are more likely to occur at an early age than sporadic cancers, and 15–20% of the cancers diagnosed in people under the age of 50 years may be accounted for by these genetic mutations.
Carriers of known genetic mutations, which confer high lifetime risks of developing breast or ovarian cancer, are also at significantly increased risk of developing certain other forms of cancer.
A further 10–20% of breast, ovarian and colorectal cancers are likely to be caused by inherited polymorphisms in predisposition genes, which are commoner but less penetrant but which confer some increased risk (more than three times the general population risk).
[…]
Acknowledgements
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp xvi-xvi
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Part 3 - Management
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp 235-236
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Part 1 - Molecular biology and natural history
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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![](https://assets.cambridge.org/97805218/03731/cover/9780521803731.jpg)
Familial Breast and Ovarian Cancer
- Genetics, Screening and Management
- Edited by Patrick J. Morrison, Shirley V. Hodgson, Neva E. Haites
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- Published online:
- 24 August 2009
- Print publication:
- 07 November 2002
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This publication surveys the profound and far-reaching ramifications that have arisen from the very significant advances in our understanding of the genetic basis of familial breast and ovarian cancer. Written by international experts from Europe and North America, this book provides the busy clinician with a contemporary and wide-ranging guide to the latest developments in the diagnosis, genetics, screening, prevention and management of familial breast cancer. This area has advanced in knowledge so rapidly that this publication provides an unrivalled source of information including sections on ethical and insurance issues and the different cultural differences in breast cancer. The use of recently devised cancer genetics clinics and different referral criteria and patterns to these clinics are detailed. The volume will be of immense value to all clinical geneticists, oncologists, and healthcare professionals involved in screening and counselling programmes.
Preface
- Edited by Patrick J. Morrison, Belfast City Hospital, Belfast, Shirley V. Hodgson, Guy's Hospital, London, Neva E. Haites, University of Aberdeen
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- Familial Breast and Ovarian Cancer
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- 24 August 2009
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- 07 November 2002, pp xv-xv
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Summary
Cancer genetics is a new field where medical knowledge is developing rapidly, and there is a continuing need to assess the implications of new research into the genetic aspects of breast and ovarian cancer for clinical management.
Clearly, many individuals have a family history of cancer, but only a small proportion have inherited genes conferring a high risk of developing specific cancers. The development of services to identify individuals at high risk for genetic assessment/testing and management, and to offer those at moderately increased risk appropriate surveillance and follow-up for cancer, is a major organizational challenge which must be shared between clinicians at all levels – from primary care to the specialist geneticist.
Because this field is developing so rapidly, there are scanty up-to-date, concise and accessible sources of information to which interested professionals (whether clinical geneticists, surgeons, oncologists, psychologists or other professionals) can turn. This book has been written to address this.
It is divided into three parts. Part 1 deals with summaries of the molecular biology and natural history of hereditary breast and ovarian cancer. Part 2 examines current screening recommendations, how services have been set up, the characteristics of patients referred, and how services differ in different cultures. Part 3 deals with management of breast and ovarian cancer in mutation carriers and those at high risk, and also includes chapters on ethical, social and insurance issues, psychosocial aspects, and preventative surgery.
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