Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists

Autor: Vanessa L. Merker, Pamela Knight, Heather B. Radtke, Kaleb Yohay, Nicole J. Ullrich, Scott R. Plotkin, Justin T. Jordan

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Introduction The neurofibromatoses (NF) are a group of rare, genetic diseases sharing a predisposition to develop multiple benign nervous system tumors. Given the wide range of NF symptoms and medical specialties involved in NF care, we soug

Externí odkaz: https://doaj.org/article/d9cfb3ef215844979fe83ad1541dab7a

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

Autor: Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin

Publikováno v: BMC Health Services Research, Vol 18, Iss 1, Pp 1-9 (2018)

Abstract Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2,

Externí odkaz: https://doaj.org/article/cd7f70c449e4481381a22d02d59e6c96

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis

Autor: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

Publikováno v: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins

PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c

Ten-Year Follow-up of Internal Neurofibroma Growth Behavior in Adult Patients With Neurofibromatosis Type 1 Using Whole-Body MRI

Autor: K. Ina Ly, Vanessa L. Merker, Wenli Cai, Miriam A. Bredella, Alona Muzikansky, Raquel D. Thalheimer, Jennifer Liwei Da, Christina C. Orr, Hamilton P. Herr, Mary E. Morris, Connie Y. Chang, Gordon J. Harris, Scott R. Plotkin, Justin T. Jordan

Publikováno v: Neurology

Background and ObjectivesInternal neurofibromas, including plexiform neurofibromas (PNF), can cause significant morbidity in patients with neurofibromatosis type 1 (NF1). PNF growth is most pronounced in children and young adults, with more rapid gro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3177b5df8423d009c622fd170a97a8fe
https://europepmc.org/articles/PMC9969927/

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials

Autor: Staci Martin, Elizabeth K. Schorry, James H. Tonsgard, Heather L. Thompson, Pamela L. Wolters, Christopher J. Funes, Andrea Baldwin, Cynthia M. Hingtgen, Barbara Franklin, Stephanie Reeve, Taryn Allen, Taylor F. Smith, Kimberley S. Koetsier, Ana-Maria Vranceanu, Vanessa L. Merker, Carolina Barnett

Publikováno v: Neurology

ObjectiveTo review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ab0f25b7d57c1dabbd1583290477d2
https://doi.org/10.1212/wnl.0000000000012421