Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Autor: M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245

Purpose: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complication

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8781f25dd24c3cd5595fe15cb4a2f568
http://europepmc.org/articles/PMC6034999

Interrater Reliability of the Pediatric National Institutes of Health Stroke Scale (PedNIHSS) in a Multicenter Study

Autor: Heather J. Fullerton, Rebecca Ichord, Abbas F. Jawad, Susan L. Benedict, Scott E. Kasner, Warren D. Lo, Marilyn Tan, Rachel A Bastian, Daniel J. Licht, Timothy J. Bernard, Li Kan, Catherine Amlie-Lefond, Lauren A. Beslow, Michael M. Dowling, Neil R. Friedman, Adam Kirton, Steve Pavlakis, Sabrina E. Smith, Gabrielle deVeber, Lori C. Jordan, Lisa Abraham, Rand Askalan, Chalmer McClure

Publikováno v: Stroke. 42:613-617

Background and Purpose— Stroke is an important cause of death and disability among children. Clinical trials for childhood stroke require a valid and reliable acute clinical stroke scale. We evaluated interrater reliability (IRR) of a pediatric ada

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5bb8dcb17d24102f0bf474ab4658f2ae
https://doi.org/10.1161/strokeaha.110.607192

Emergence of the primary pediatric stroke center: impact of the thrombolysis in pediatric stroke trial

Autor: Rebecca Ichord, Catherine Amlie-Lefond, Adam Kirton, Collin A. Hovinga, Gabrielle de Veber, Jorina Elbers, Anthony K.C. Chan, Marcela Torres, Joan Cox Gill, Hugh J. McMillan, Dana D Cummings, James C. Grotta, Susan L. Benedict, Lori C. Jordan, Lauren A. Beslow, Neil R. Friedman, Michael M. Dowling, Michael J. Rivkin, Sally Sultan, Kelley Scholz, Timothy J. Bernard, Eric F. Grabowski

Publikováno v: Stroke. 45(7)

Background and Purpose— In adult stroke, the advent of thrombolytic therapy led to the development of primary stroke centers capable to diagnose and treat patients with acute stroke rapidly. We describe the development of primary pediatric stroke c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b5df3be50e7c6b3a78d9e1538ae490
https://pubmed.ncbi.nlm.nih.gov/24916908

Abstract 3277: Initial Stroke Severity Measured by Pediatric NIH Stroke Scale Predicts 12-month Outcome in Children

Autor: Rebecca N Ichord, Rachel A Bastian, Lisa Abraham, Susan L Benedict, Timothy J Bernard, Lauren A Beslow, Gabrielle de Veber, Michael Dowling, Neil R Friedman, Heather J Fullerton, Lori C Jordan, Li Kan, Scott E Kasner, Adam Kirton, Catherine Amlie-Lefond, Daniel J Licht, Warren Lo, Chalmer McClure, Steve Pavlakis, Sabrina E Smith, Abbas F Jawad

Publikováno v: Stroke. 43

Background: Stroke is an important cause of death and disability among children. Clinical trials for childhood stroke will require a valid acute clinical stroke scale. We evaluated predictive validity of a pediatric adaptation of the NIH Stroke Scale

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::575980bb0aa9b2d48a55f4d2c62cb9e2
https://doi.org/10.1161/str.43.suppl_1.a3277

Arterial ischemic stroke risk factors: the International Pediatric Stroke Study

Autor: Mark T, Mackay, Max, Wiznitzer, Susan L, Benedict, Katherine J, Lee, Gabrielle A, Deveber, Vijeya, Ganesan, Andrew, Willan

Publikováno v: Annals of neurology. 69(1)

Objective To describe presumptive risk factors (RFs) for childhood arterial ischemic stroke (AIS) and explore their relationship with presentation, age, geography, and infarct characteristics. Methods Children (29 days–18 years) were prospectively

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8677aac8b1f05069e768c1845a5866d3
https://pubmed.ncbi.nlm.nih.gov/21280083