Opsismodysplasia: Phosphate wasting osteodystrophy responds to bisphosphonate therapy

Autor: Ansab eKhwaja, Shawn E Parnell, Kathryn eNess, Viviana eBompadre, Klane K White

Publikováno v: Frontiers in Pediatrics, Vol 3 (2015)

We present two siblings affected with opsismodysplasia, a rare skeletal dysplasia caused by mutations in the INPPL1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed

Externí odkaz: https://doaj.org/article/16f971f4067f409ab42a9dad4a0a7f11

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I

Autor: Troy C. Lund, Terence M. Doherty, Julie B. Eisengart, Rebecca L. Freese, Kyle D. Rudser, Ellen B. Fung, Bradley S. Miller, Klane K. White, Paul J. Orchard, Chester B. Whitley, Lynda E. Polgreen

Publikováno v: JIMD Reports, Vol 58, Iss 1, Pp 89-99 (2021)

Abstract Background Orthopedic disease progresses in mucopolysaccharidosis type I (MPS I), even with approved therapies and remains a major factor in persistent suffering and disability. Novel therapies and accurate predictors of response are needed.

Externí odkaz: https://doaj.org/article/eda272a015ff42afbdfa8b995f7872ed

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

National burden of achondroplasia: an analysis of the National Inpatient and Nationwide Ambulatory Surgery Samples

Autor: Michael S Broder, Er Chen, Jessie T Yan, Eunice Chang, Marian H Tarbox, Adelpha Abrahamson Larkin, Klane K White

Publikováno v: Journal of Comparative Effectiveness Research. 11:1135-1146

Background: To estimate the cost of US hospital admissions and outpatient surgeries associated with achondroplasia. Materials & methods: Using 2017 data from nationally representative databases, this study identifies hospital admissions and outpatien

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7820894b63a61a37fab9d8dbe6d172f7
https://doi.org/10.2217/cer-2021-0250

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes

Autor: Julie Hoover-Fong, Janet M. Legare, Klane K. White, Melissa A. Villegas, Angela L. Duker, Michael B. Bober, Ericka Okenfuss, Ravi Savarirayan

Publikováno v: Neurosurgery Clinics of North America. 33:7-15

Neurosurgical patients with genetic syndromes often receive care from multidisciplinary teams. Successful models range from multiple providers in one clinic space seeing a patient together to specialists located at different institutions working toge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8ac9637349a6be4428bdf926ed764c
https://doi.org/10.1016/j.nec.2021.09.002