Perceived Barriers to Increasing Diversity within Oculofacial Plastic Surgery

Autor: Johsias A. Maru, Nicole D. Carvajal, Alejandra G. de Alba Campomanes, Neeti Parikh, Davin C. Ashraf, Robert C. Kersten, Bryan J. Winn, M. Reza Vagefi, Seanna R. Grob

Publikováno v: Journal of Academic Ophthalmology, Vol 14, Iss 02, Pp e271-e278 (2022)

Purpose Physician diversity is limited in ophthalmology and oculofacial plastic surgery. Determination of barriers within the application process for oculofacial plastic surgery may help target efforts to improve the recruitment of underrepresented g

Externí odkaz: https://doaj.org/article/b10ee5d458d34ff99e3dcc56bcf3895c

S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

Autor: Fuying Chen, Cheng Ni, Xiaoxiao Wang, Ruhong Cheng, Chaolan Pan, Yumeng Wang, Jianying Liang, Jia Zhang, Jinke Cheng, Y Eugene Chin, Yi Zhou, Zhen Wang, Yiran Guo, She Chen, Stephanie Htun, Erin F Mathes, Alejandra G de Alba Campomanes, Anne M Slavotinek, Si Zhang, Ming Li, Zhirong Yao

Publikováno v: EMBO Molecular Medicine, Vol 14, Iss 5, Pp 1-17 (2022)

Abstract In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder, and psoriasis‐like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to respond to regular treatment.

Externí odkaz: https://doaj.org/article/d3fe84912aa441e5b83b8222e5b3f3c6

Contributors

Autor: Steven H. Abman, Noorjahan Ali, Karel Allegaert, Jamie E. Anderson, Deidra A. Ansah, Bhawna Arya, David Askenazi, Susan W. Aucott, Stephen A. Back, Gerri R. Baer, H. Scott Baldwin, Jerasimos Ballas, Maneesh Batra, Cheryl Bayart, Gary A. Bellus, John T. Benjamin, Gerard T. Berry, Zeenia C. Billimoria, Gil Binenbaum, Matthew S. Blessing, Markus D. Boos, Brad Bosse, Maryse L. Bouchard, Heather A. Brandling-Bennett, Colleen Brown, Erin G. Brown, Katherine H. Campbell, Katie Carlberg, Brian S. Carter, Shilpi Chabra, Irene J. Chang, Edith Y. Cheng, Kai-wen Chiang, Robert D. Christensen, Terrence Chun, Ronald I. Clyman, Donna, Maria E. Cortezzo, C.M. Cotten, Sherry E. Courtney, Jonathan M. Davis, Alejandra G. de Alba Campomanes, Benjamin Dean, Ellen Dees, Sara B. De, Mauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia Di Blasi, Sara A. Di, Vall, Dan Doherty, David J. Durand, Nicolle Fernández Dyess, Eric C. Eichenwald, Kelsey B. Eitel, Rachel M. Engen, Kelly N. Evans, Diana L. Farmer, Emily Fay, Patricia Y. Fechner, Rachel Fleishman, Bobbi Fleiss, Joseph Flynn, Katherine T. Flynn-O’Brien, G. Kyle Fulton, Renata C. Gallagher, Estelle B. Gauda, W. Christopher Golden, Michelle M. Gontasz, Natasha González Estévez, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Sangeeta Hingorani, Ashley P. Hinson, Susan R. Hintz, W. Alan Hodson, Kara K. Hoppe, Alyssa Huang, Benjamin Huang, Kathy Huen, Katie A. Huff, Cristian Ionita, J. Craig Jackson, Jordan E. Jackson, Tom Jaksic, Patrick J. Javid, Julia Johnson, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Mohammad Nasser Kabbany, Heidi Karpen, Gregory Keefe, Jennifer C. Keene, Amaris M. Keiser, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Allison S. Komorowski, Ildiko H. Koves, Joanne M. Lagatta, Satyan Lakshminrusimha, Christina Lam, John D. Lantos, Janessa B. Law, Su Yeon Lee, Ofer Levy, David B. Lewis, Philana Ling Lin, Scott A. Lorch, Tiffany L. Lucas, Akhil Maheshwari, Emin Maltepe, Erica Mandell, Winston M. Manimtim, Richard J. Martin, Dennis E. Mayock, Irene Mc, Aleer, Patrick McQuillen, Ann J. Melvin, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Ulrike Mietzsch, Steven P. Miller, Thomas R. Moore, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Kathryn D. Ness, Josef Neu, Shahab Noori, Thomas Michael O’Shea, Julius T. Oatts, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Simran Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Catherine Pihoker, Erin Plosa, Brenda Poindexter, Michael A. Posencheg, Mihai Puia-Dumitrescu, Vilmaris Quiñones Cardona, Samuel E. Rice-Townsend, Art Riddle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo J. Sanchez, Taylor Sawyer, Matthew A. Saxonhouse, Katherine M. Schroeder, David T. Selewski, T. Niroshi Senaratne, Istvan Seri, Emily E. Sharpe, Sarah E. Sheppard, Margarett Shnorhavorian, Robert Sidbury, La, Vone Simmons, Rebecca A. Simmons, Rachana Singh, Martha C. Sola-Visner, Lakshmi Srinivasan, Heidi J. Steflik, Robin H. Steinhorn, Caleb Stokes, Helen Stolp, Jennifer Sucre, Angela Sun, Dalal K. Taha, Jessica Tenney, Janet A. Thomas, George E. Tiller, Benjamin A. Torres, William E. Truog, Kirtikumar Upadhyay, Gregory C. Valentine, John N. van den Anker, Betty Vohr, Linda D. Wallen, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, K. Taylor Wild, Susan Wiley, Laurel Willig, George A. Woodward, Clyde J. Wright, Karyn Yonekawa, Elizabeth Yu, Elaine H. Zackai

Publikováno v: Avery's Diseases of the Newborn ISBN: 9780323828239

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ae2e380d47048c29830835b82b680e24
https://doi.org/10.1016/b978-0-323-82823-9.00101-x

Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency

Autor: Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan, Alejandra G. de Alba Campomanes

Publikováno v: Ophthalmic Genetics. :1-5

To describe a case of primary coenzyme Q10 deficiency in a child manifesting as early-onset renal failure, retinal dystrophy, and optic atrophy leading to progressive vision loss. Clinical presentation and workup including visual fields, electroretin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c6ebd2a483b672df89d9d5e403d00dd
https://doi.org/10.1080/13816810.2022.2141792

Chorioretinal Findings as the Initial Presentation of Chronic Granulomatous Disease

Autor: Tiffany A. Chen, Nadim Rayess, Armin R. Afshar, Darius M. Moshfeghi, Jacque L. Duncan, Alejandra G. de Alba Campomanes

Publikováno v: Ophthalmic Surgery, Lasers and Imaging Retina. 53:234-238

To describe a case of chronic granulomatous disease (CGD) with ocular lesions as the presenting findings. An ocular examination of a 4-month-old male infant with poor vision revealed punched-out macular and perivascular chorioretinal fibrosis and atr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0485388b8dd40c9bb82a9dfaf57f7604
https://doi.org/10.3928/23258160-20220315-01