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A case of right aortic arch with isolated left innominate artery and global cerebral white matter atrophy
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- Edem Binka, Lisa R. Sun, Philippe Gailloud, Joanne S. Chiu
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- Journal:
- Cardiology in the Young / Volume 29 / Issue 8 / August 2019
- Published online by Cambridge University Press:
- 10 July 2019, pp. 1107-1109
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A right aortic arch with an isolated left innominate artery is a rare form of aortic arch anomaly. We present a case of neonatal diagnosis of this anomaly with concerning findings of global cerebral white matter atrophy at 13 months of age.
Contributors
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- By Linda S. Aglio, Cyrus Ahmadi Yazdi, Syed Irfan Qasim Ali, Caryn Barnet, Jessica Bauerle, Felicity Billings, Evan Blaney, Beverly Chang, Christopher Chen, Zinaida Chepurny, Hyung Sun Choi, Allison Clark, Lauren J. Cornella, Lisa Crossley, Michael D’Ambra, Galina Davidyuk, Whitney de Luna, Manisha S. Desai, Sukumar P. Desai, Kelly G. Elterman, Michaela K. Farber, Iuliu Fat, Jaida Fitzgerald, Devon Flaherty, John A. Fox, Gyorgy Frendl, Rejean Gareau, Joseph M. Garfield, Andrea Girnius, Laverne D. Gugino, J. Tasker Gundy, Carly C. Guthrie, Lisa M. Hammond, M. Tariq Hanifi, James Hardy, Philip M. Hartigan, Thomas Hickey, Richard Hsu, Mohab Ibrahim, David Janfaza, Yuka Kiyota, Suzanne Klainer, Benjamin Kloesel, Hanjo Ko, Bhavani Kodali, Vesela Kovacheva, J. Matthew Kynes, Robert W. Lekowski, Joyce Lo, Jeffrey Lu, Alvaro A. Macias, Zahra M. Malik, Erich N. Marks, Brendan McGinn, Jonathan R. Meserve, Annette Mizuguchi, Srdjan S. Nedeljkovic, Ju-Mei Ng, Michael Nguyen, Olutoyin Okanlawon, Jennifer Oliver, Krishna Parekh, Jessica Patterson, Christian Peccora, Pete Pelletier, Sujatha Pentakota, James H. Philip, Marc Philip T. Pimentel, Timothy D. Quinn, Elizabeth M. Rickerson, Susan L. Sager, Julia Serber, Shaheen Shaikh, Stanton Shernan, David Silver, Alissa Sodickson, Pingping Song, George P. Topulos, Agnieszka Trzcinka, Richard D. Urman, Rosemary Uzomba, Joshua Vacanti, Assia Valovska, Michael Vaninetti, Scott W. Vaughan, Kamen Vlassakov, Christopher Voscopoulos, Emily L. Wang, Laura Westfall, Zhiling Xiong, Stephanie Yacoubian, Dongdong Yao, Martin Zammert, Maksim Zayaruzny, Jose Luis Zeballos, Natthasorn Zinboonyahgoon, Jie Zhou
- Edited by Linda S. Aglio, Robert W. Lekowski, Richard D. Urman
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- Book:
- Essential Clinical Anesthesia Review
- Published online:
- 05 February 2015
- Print publication:
- 08 January 2015, pp xi-xvi
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Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins
- David A. Mackey, Jane R. MacKinnon, Shayne A. Brown, Lisa S. Kearns, Jonathan B. Ruddle, Paul G. Sanfilippo, Cong Sun, Christopher J. Hammond, Terri L. Young, Nicholas G. Martin, Alex W. Hewitt
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- Journal:
- Twin Research and Human Genetics / Volume 12 / Issue 5 / 01 October 2009
- Published online by Cambridge University Press:
- 21 February 2012, pp. 441-454
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Visual impairment is a leading cause of morbidity and poor quality of life in our community. Unravelling the mechanisms underpinning important blinding diseases could allow preventative or curative steps to be implemented. Twin siblings provide a unique opportunity in biology to discover genes associated with numerous eye diseases and ocular biometry. Twins are particularly useful for quantitative trait analysis through genome-wide association and linkage studies. Although many studies involving twins rely on twin registries, we present our approach to the Twins Eye Study in Tasmania to provide insight into possible recruitment strategies, expected participation rates and potential examination strategies that can be considered by other researchers for similar studies. Five separate avenues for cohort recruitment were adopted: (1) piggy-backing existing studies where twins had been recruited, (2) utilizing the national twin registry, (3) word-of-mouth and local media publicity, (4) directly approaching schools, and finally (5) collaborating with other research groups studying twins.
The Norfolk Island Eye Study (NIES): Rationale, Methodology and Distribution of Ocular Biometry (Biometry of the Bounty)
- David A. Mackey, Justin C. Sherwin, Lisa S. Kearns, Yaling Ma, John Kelly, Byoung-Sun Chu, Robert MacMillan, Julie M. Barbour, Colleen H. Wilkinson, Elizabeth Matovinovic, Hannah C. Cox, Claire Bellis, Rod A. Lea, Sharon Quinlan, Lyn R. Griffiths, Alex W. Hewitt
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- Journal:
- Twin Research and Human Genetics / Volume 14 / Issue 1 / 01 February 2011
- Published online by Cambridge University Press:
- 21 February 2012, pp. 42-52
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Aim: To describe the recruitment, ophthalmic examination methods and distribution of ocular biometry of participants in the Norfolk Island Eye Study, who were individuals descended from the English Bounty mutineers and their Polynesian wives. Methods: All 1,275 permanent residents of Norfolk Island aged over 15 years were invited to participate, including 602 individuals involved in a 2001 cardiovascular disease study. Participants completed a detailed questionnaire and underwent a comprehensive eye assessment including stereo disc and retinal photography, ocular coherence topography and conjunctival autofluorescence assessment. Additionally, blood or saliva was taken for DNA testing. Results: 781 participants aged over 15 years were seen (54% female), comprising 61% of the permanent Island population. 343 people (43.9%) could trace their family history to the Pitcairn Islanders (Norfolk Island Pitcairn Pedigree). Mean anterior chamber depth was 3.32mm, mean axial length (AL) was 23.5mm, and mean central corneal thickness was 546 microns. There were no statistically significant differences in these characteristics between persons with and without Pitcairn Island ancestry. Mean intra-ocular pressure was lower in people with Pitcairn Island ancestry: 15.89mmHg compared to those without Pitcairn Island ancestry 16.49mmHg (P = .007). The mean keratometry value was lower in people with Pitcairn Island ancestry (43.22 vs. 43.52, P = .007). The corneas were flatter in people of Pitcairn ancestry but there was no corresponding difference in AL or refraction. Conclusion: Our study population is highly representative of the permanent population of Norfolk Island. Ocular biometry was similar to that of other white populations. Heritability estimates, linkage analysis and genome-wide studies will further elucidate the genetic determinants of chronic ocular diseases in this genetic isolate.
Contributors
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- By Aakash Agarwala, Linda S. Aglio, Rae M. Allain, Paul D. Allen, Houman Amirfarzan, Yasodananda Kumar Areti, Amit Asopa, Edwin G. Avery, Patricia R. Bachiller, Angela M. Bader, Rana Badr, Sibinka Bajic, David J. Baker, Sheila R. Barnett, Rena Beckerly, Lorenzo Berra, Walter Bethune, Sascha S. Beutler, Tarun Bhalla, Edward A. Bittner, Jonathan D. Bloom, Alina V. Bodas, Lina M. Bolanos-Diaz, Ruma R. Bose, Jan Boublik, John P. Broadnax, Jason C. Brookman, Meredith R. Brooks, Roland Brusseau, Ethan O. Bryson, Linda A. Bulich, Kenji Butterfield, William R. Camann, Denise M. Chan, Theresa S. Chang, Jonathan E. Charnin, Mark Chrostowski, Fred Cobey, Adam B. Collins, Mercedes A. Concepcion, Christopher W. Connor, Bronwyn Cooper, Jeffrey B. Cooper, Martha Cordoba-Amorocho, Stephen B. Corn, Darin J. Correll, Gregory J. Crosby, Lisa J. Crossley, Deborah J. Culley, Tomas Cvrk, Michael N. D'Ambra, Michael Decker, Daniel F. Dedrick, Mark Dershwitz, Francis X. Dillon, Pradeep Dinakar, Alimorad G. Djalali, D. John Doyle, Lambertus Drop, Ian F. Dunn, Theodore E. Dushane, Sunil Eappen, Thomas Edrich, Jesse M. Ehrenfeld, Jason M. Erlich, Lucinda L. Everett, Elliott S. Farber, Khaldoun Faris, Eddy M. Feliz, Massimo Ferrigno, Richard S. Field, Michael G. Fitzsimons, Hugh L. Flanagan Jr., Vladimir Formanek, Amanda A. Fox, John A. Fox, Gyorgy Frendl, Tanja S. Frey, Samuel M. Galvagno Jr., Edward R. Garcia, Jonathan D. Gates, Cosmin Gauran, Brian J. Gelfand, Simon Gelman, Alexander C. Gerhart, Peter Gerner, Omid Ghalambor, Christopher J. Gilligan, Christian D. Gonzalez, Noah E. Gordon, William B. Gormley, Thomas J. Graetz, Wendy L. Gross, Amit Gupta, James P. Hardy, Seetharaman Hariharan, Miriam Harnett, Philip M. Hartigan, Joaquim M. Havens, Bishr Haydar, Stephen O. Heard, James L. Helstrom, David L. Hepner, McCallum R. Hoyt, Robert N. Jamison, Karinne Jervis, Stephanie B. Jones, Swaminathan Karthik, Richard M. Kaufman, Shubjeet Kaur, Lee A. Kearse Jr., John C. Keel, Scott D. Kelley, Albert H. Kim, Amy L. Kim, Grace Y. Kim, Robert J. Klickovich, Robert M. Knapp, Bhavani S. Kodali, Rahul Koka, Alina Lazar, Laura H. Leduc, Stanley Leeson, Lisa R. Leffert, Scott A. LeGrand, Patricio Leyton, J. Lance Lichtor, John Lin, Alvaro A. Macias, Karan Madan, Sohail K. Mahboobi, Devi Mahendran, Christine Mai, Sayeed Malek, S. Rao Mallampati, Thomas J. Mancuso, Ramon Martin, Matthew C. Martinez, J. A. Jeevendra Martyn, Kai Matthes, Tommaso Mauri, Mary Ellen McCann, Shannon S. McKenna, Dennis J. McNicholl, Abdel-Kader Mehio, Thor C. Milland, Tonya L. K. Miller, John D. Mitchell, K. Annette Mizuguchi, Naila Moghul, David R. Moss, Ross J. Musumeci, Naveen Nathan, Ju-Mei Ng, Liem C. Nguyen, Ervant Nishanian, Martina Nowak, Ala Nozari, Michael Nurok, Arti Ori, Rafael A. Ortega, Amy J. Ortman, David Oxman, Arvind Palanisamy, Carlo Pancaro, Lisbeth Lopez Pappas, Benjamin Parish, Samuel Park, Deborah S. Pederson, Beverly K. Philip, James H. Philip, Silvia Pivi, Stephen D. Pratt, Douglas E. Raines, Stephen L. Ratcliff, James P. Rathmell, J. Taylor Reed, Elizabeth M. Rickerson, Selwyn O. Rogers Jr., Thomas M. Romanelli, William H. Rosenblatt, Carl E. Rosow, Edgar L. Ross, J. Victor Ryckman, Mônica M. Sá Rêgo, Nicholas Sadovnikoff, Warren S. Sandberg, Annette Y. Schure, B. Scott Segal, Navil F. Sethna, Swapneel K. Shah, Shaheen F. Shaikh, Fred E. Shapiro, Torin D. Shear, Prem S. Shekar, Stanton K. Shernan, Naomi Shimizu, Douglas C. Shook, Kamal K. Sikka, Pankaj K. Sikka, David A. Silver, Jeffrey H. Silverstein, Emily A. Singer, Ken Solt, Spiro G. Spanakis, Wolfgang Steudel, Matthias Stopfkuchen-Evans, Michael P. Storey, Gary R. Strichartz, Balachundhar Subramaniam, Wariya Sukhupragarn, John Summers, Shine Sun, Eswar Sundar, Sugantha Sundar, Neelakantan Sunder, Faraz Syed, Usha B. Tedrow, Nelson L. Thaemert, George P. Topulos, Lawrence C. Tsen, Richard D. Urman, Charles A. Vacanti, Francis X. Vacanti, Joshua C. Vacanti, Assia Valovska, Ivan T. Valovski, Mary Ann Vann, Susan Vassallo, Anasuya Vasudevan, Kamen V. Vlassakov, Gian Paolo Volpato, Essi M. Vulli, J. Matthias Walz, Jingping Wang, James F. Watkins, Maxwell Weinmann, Sharon L. Wetherall, Mallory Williams, Sarah H. Wiser, Zhiling Xiong, Warren M. Zapol, Jie Zhou
- Edited by Charles Vacanti, Scott Segal, Pankaj Sikka, Richard Urman
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- Book:
- Essential Clinical Anesthesia
- Published online:
- 05 January 2012
- Print publication:
- 11 July 2011, pp xv-xxviii
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