Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment

Autor: Katlyn E. McGrattan, Richard D. Shell, Rebecca Hurst-Davis, Sally Dunaway Young, Eamonn O’Brien, Arseniy Lavrov, Shiri Wallach, Nicole LaMarca, Sandra P. Reyna, Basil T. Darras

Publikováno v: Journal of Neuromuscular Diseases. :1-10

Background: Improvement and maintenance of bulbar function are goals of disease-modifying treatments for spinal muscular atrophy (SMA). Lack of standardized measures and a widely accepted definition of bulbar function represents a gap in SMA care. Ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::83d542832ca2ff802b70dacb743a75bd
https://doi.org/10.3233/jnd-221531

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Autor: Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz

Publikováno v: Neuromuscular Disorders. 28:103-115

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060448e3bce86a13394ec584cb841ce1
https://doi.org/10.1016/j.nmd.2017.11.005

Nutritional Practices at a Glance

Autor: Barbara J. Godshall, Mary Marcus, Mary K. Schroth, Bernie LaSalle, Erin Seffrood, Kathryn J. Swoboda, Brenda Wong, Rebecca Hurst Davis

Publikováno v: Journal of Child Neurology. 29:1467-1472

Proactive nutritional management for children with spinal muscular atrophy type I can provide insight into improved spinal muscular atrophy care. This observational study consisted of a nutritional and medical history survey of children with spinal m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88c7d9ce87bad5ad056651eb48c4c8fa
https://doi.org/10.1177/0883073813503988

Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with Spinal Muscular Atrophy type I

Autor: Abby L. Smart, Gary M. Chan, Benjamin S. Chisum, Rebecca Hurst Davis, Katherine E. Poruk, Gurmail Gill, Sandra P. Reyna, Bernie LaSalle, Kathryn J. Swoboda

Clinical experience supports a critical role for nutrition in patients with spinal muscular atrophy (SMA). Three-day dietary intake records were analyzed for 156 visits in 47 SMA type I patients, 25 males and 22 females, ages 1 month to 13 years (med

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56fcd93f4dbc781dcbd7c2004f87f800
https://europepmc.org/articles/PMC3484247/

A community pseudo-outbreak of invasive Staphylococcus aureus infection

Autor: Rebecca B. Leonard, Karen C. Carroll, Rebecca Hurst Davis, Elisabeth E. Adderson, Andrew T. Pavia, John C. Christenson

Publikováno v: Diagnostic Microbiology and Infectious Disease. 37:219-221

Outbreaks of invasive infection caused by methicillin-susceptible and methicillin-resistant Staphylococcus aureus occur in hospitals, long term care institutions, and in patients discharged from these settings. In contrast, epidemic S. aureus infecti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62c1eca819cf816a9130d4b42e3b25ac
https://doi.org/10.1016/s0732-8893(00)00144-9