2,275 research outputs found

    The Listening Project: Fostering Connection And Curiosity In Middle School Classrooms

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    Purification and identification of secernin, a novel cytosolic protein that regulates exocytosis in mast cells

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    After permeabilization with the pore-forming toxin streptolysin-O mast cells can be triggered to secrete by addition of both calcium and a GTP analogue. If stimulation is delayed after permeabilization, there is a progressive decrease in the extent of secretion upon stimulation, eventually leading to a complete loss of the secretory response. This loss of secretory response can be retarded by the addition of cytosol from other secretory tissues, demonstrating that the response is dependent on a number of cytosolic proteins. We have used this as the basis of a bioassay to purify Secernin 1, a novel 50-kDa cytosolic protein that appears to be involved in the regulation of exocytosis from peritoneal mast cells. Secernin 1 increases both the extent of secretion and increases the sensitivity of mast cells to stimulation with calcium

    Ocular Phenotype Associated with DYRK1A Variants

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    Dual-specificity tyrosine phosphorylation-regulated kinase 1A or DYRK1A, contributes to central nervous system development in a dose-sensitive manner. Triallelic DYRK1A is implicated in the neuropathology of Down syndrome, whereas haploinsufficiency causes the rare DYRK1A-related intellectual disability syndrome (also known as mental retardation 7). It is characterised by intellectual disability, autism spectrum disorder and microcephaly with a typical facial gestalt. Preclinical studies elucidate a role for DYRK1A in eye development and case studies have reported associated ocular pathology. In this study families of the DYRK1A Syndrome International Association were asked to self-report any co-existing ocular abnormalities. Twenty-six patients responded but only 14 had molecular confirmation of a DYRK1A pathogenic variant. A further nineteen patients from the UK Genomics England 100,000 Genomes Project were identified and combined with 112 patients reported in the literature for further analysis. Ninety out of 145 patients (62.1%) with heterozygous DYRK1A variants revealed ocular features, these ranged from optic nerve hypoplasia (13%, 12/90), refractive error (35.6%, 32/90) and strabismus (21.1%, 19/90). Patients with DYRK1A variants should be referred to ophthalmology as part of their management care pathway to prevent amblyopia in children and reduce visual comorbidity, which may further impact on learning, behaviour, and quality of life

    New Approaches To Photometric Redshift Prediction Via Gaussian Process Regression In The Sloan Digital Sky Survey

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    Expanding upon the work of Way and Srivastava 2006 we demonstrate how the use of training sets of comparable size continue to make Gaussian process regression (GPR) a competitive approach to that of neural networks and other least-squares fitting methods. This is possible via new large size matrix inversion techniques developed for Gaussian processes (GPs) that do not require that the kernel matrix be sparse. This development, combined with a neural-network kernel function appears to give superior results for this problem. Our best fit results for the Sloan Digital Sky Survey (SDSS) Main Galaxy Sample using u,g,r,i,z filters gives an rms error of 0.0201 while our results for the same filters in the luminous red galaxy sample yield 0.0220. We also demonstrate that there appears to be a minimum number of training-set galaxies needed to obtain the optimal fit when using our GPR rank-reduction methods. We find that morphological information included with many photometric surveys appears, for the most part, to make the photometric redshift evaluation slightly worse rather than better. This would indicate that most morphological information simply adds noise from the GP point of view in the data used herein. In addition, we show that cross-match catalog results involving combinations of the Two Micron All Sky Survey, SDSS, and Galaxy Evolution Explorer have to be evaluated in the context of the resulting cross-match magnitude and redshift distribution. Otherwise one may be misled into overly optimistic conclusions.Comment: 32 pages, ApJ in Press, 2 new figures, 1 new table of comparison methods, updated discussion, references and typos to reflect version in Pres

    Recent changes in area and thickness of Torngat Mountain glaciers (northern Labrador, Canada)

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    The Torngat Mountains National Park, northern Labrador, Canada, contains more than 120 small glaciers: the only remaining glaciers in continental northeast North America. These small cirque glaciers exist in a unique topo-climatic setting, experiencing temperate maritime summer conditions yet very cold and dry winters, and may provide insights into the deglaciation dynamics of similar small glaciers in temperate mountain settings. Due to their size and remote location, very little information exists regarding the health of these glaciers. Just a single study has been published on the contemporary glaciology of the Torngat Mountains, focusing on net mass balances from 1981 to 1984. This paper addresses the extent to which glaciologically relevant climate variables have changed in northern Labrador in concert with 20th-century Arctic warming, and how these changes have affected Torngat Mountain glaciers. Field surveys and remote-sensing analyses were used to measure regional glacier area loss of 27 % from 1950 to 2005, substantial rates of ice surface thinning (up to 6 m yr−1) and volume losses at Abraham, Hidden, and Minaret glaciers, between 2005 and 2011. Glacier mass balances appear to be controlled by variations in winter precipitation and, increasingly, by strong summer and autumn atmospheric warming since the early 1990s, though further observations are required to fully understand mass balance sensitivities. This study provides the first comprehensive contemporary assessment of Labrador glaciers and will inform both regional impact assessments and syntheses of global glacier mass balance

    Release and Establishment of Megamelus scutellaris (Hemiptera: Delphacidae) on Waterhyacinth in Florida

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    More than 73,000 Megamelus scutellaris (Hemiptera: Delphacidae) were released in Florida over a 2 to 3 yr period at 10 sites in an attempt to establish sustainable populations on waterhyacinth, Eichhornia crassipes Mart. Solms (Commelinales: Pontederiaceae). Insect populations persisted at most sites including those furthest north and consecutive overwintering was confirmed in as many as three times at some sites. Establishment appeared to be promoted at sites with some cover or shading compared to open areas. Insects readily dispersed over short distances which made detection and monitoring difficultFil: Tipping, Philip W.. Invasive Plant Research Laboratory; Estados UnidosFil: Sosa, Alejandro Joaquín. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación para el Estudio de Especies Invasivas; ArgentinaFil: Pokorny, Eileen N.. Invasive Plant Research Laboratory; Estados UnidosFil: Foley, Jeremiah. Invasive Plant Research Laboratory; Estados UnidosFil: Schmitz, Don C.. Florida Fish and Wildlife Conservation Commission; Estados UnidosFil: Lane, Jon S.. U.S. Army Corps of Engineers; Estados UnidosFil: Rodgers, Leroy. South Florida Water Management District; Estados UnidosFil: Mccloud, Lori. St. Johns River Water Management District; Estados UnidosFil: Livingston-Way, Pam. St. Johns River Water Management District; Estados UnidosFil: Cole, Matthew S.. St. Johns River Water Management District; Estados UnidosFil: Nichols, Gary. St. Johns River Water Management District; Estados Unido

    Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale

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    Background: The presence of Lynch syndrome (LS) can bring a lifetime of uncertainty to an entire family as members adjust to living with a high lifetime cancer risk. The research base on how individuals and families adjust to genetic-linked diseases following predictive genetic testing has increased our understanding of short-term impacts but gaps continue to exist in knowledge of important factors that facilitate or impede long-term adjustment. The failure of existing scales to detect psychosocial adjustment challenges in this population has led researchers to question the adequate sensitivity of these instruments. Furthermore, we have limited insight into the role of the family in promoting adjustment. Methods: The purpose of this study was to develop and initially validate the Psychosocial Adjustment to Hereditary Diseases (PAHD) scale. This scale consists of two subscales, the Burden of Knowing (BK) and Family Connectedness (FC). Items for the two subscales were generated from a qualitative data base and tested in a sample of 243 participants from families with LS. Results: The Multitrait/Multi-Item Analysis Program-Revised (MAP-R) was used to evaluate the psychometric properties of the PAHD. The findings support the convergent and discriminant validity of the subscales. Construct validity was confirmed by factor analysis and Cronbach’s alpha supported a strong internal consistency for BK (0.83) and FC (0.84). Conclusion: Preliminary testing suggests that the PAHD is a psychometrically sound scale capable of assessing psychosocial adjustment. We conclude that the PAHD may be a valuable monitoring tool to identify individuals and families who may require therapeutic interventions
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