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Seattle, WA, United States

Guerrini R.,University of Florence | Guerrini R.,Stella Maris Foundation Research Institute | Dobyns W.B.,University of Washington | Dobyns W.B.,Seattle Childrens Research Institute
The Lancet Neurology | Year: 2014

Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders. © 2014 Elsevier Ltd. Source

Diblasi R.M.,Seattle Childrens Research Institute
Respiratory Care | Year: 2011

The current trend for supporting neonates with respiratory distress syndrome is nasal continuous positive airway pressure (CPAP). Nearly half of all neonates who are supported with CPAP will still develop respiratory failure that requires potentially injurious endotracheal intubation and invasive ventilation. Thus, the role of any neonatal clinician is to minimize invasive ventilation whenever possible, to avoid the multitude of complications that can arise when using this form of therapy. Noninvasive ventilation (NIV) is a form of respiratory assistance that provides greater respiratory support than does CPAP and may prevent intubation in a larger fraction of neonates who would otherwise fail CPAP. With the inception of nasal airway interfaces, clinicians have ushered in many different forms of NIV in neonates, often with very little experimental data to guide management. This review will explore in detail all of the different forms of neonatal NIV that are currently focused within an area of intense clinical investigation. © 2011 Daedalus Enterprises. Source

Aylward E.H.,Seattle Childrens Research Institute
Movement Disorders | Year: 2014

An abundance of research shows that magnetic resonance imaging (MRI) striatal volumes decrease long before diagnosis of Huntington's disease (HD) and closely track disease progression. Additional research indicates that these volumetric measures meet important criteria for a biomarker that can be used in clinical trials: They are 1) objectively measureable; 2) able to predict known endpoints; and 3) associated with known mechanisms of pathology of the disease. Researchers should consider formal application to regulatory agencies for biomarker status of volumetric MRI striatal measures, because these measures are anticipated to contribute significantly in the assessment of treatment effectiveness in HD. © 2014 International Parkinson and Movement Disorder Society. Source

Diekema D.S.,University of Washington | Diekema D.S.,Seattle Childrens Research Institute
Annual Review of Public Health | Year: 2014

Despite the impact vaccination has had on the control and prevention of many infectious diseases, some parents choose not to vaccinate their children. Although there is no federal law requiring vaccination of children in the United States, all states require evidence of vaccination against at least some diseases as a condition of school entry. Which vaccines are required; how many doses are required; whether entry requirements apply to child care, kindergarten, or middle school; and whether exemptions from vaccine requirements will be allowed all differ by state. All but two states allow some kind of personal belief exemption from school vaccination requirements. This article reviews the history of school vaccination requirements and exemptions, the legal status of state vaccination laws and exemptions, the impact of school vaccination requirements and personal belief exemptions on vaccination rates and disease incidence, and strategies for maintaining adequate vaccination rates in states that allow personal belief exemptions. ©2014 by Annual Reviews. All rights reserved. Source

Seattle Childrens Research Institute | Date: 2011-10-26

Fibrotic diseases are characterized by the replacement of healthy tissue with scar tissue and extracellular matrix in response to tissue damage. Here we describe the reduction of extracellular matrix (ECM) deposition, interstitial fibroblasts, interstitial volume, expression of Collagen I mRNA and protein, expression of profibrotic cytokines and macrophage infiltration by Cysteamine treatment.

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