52 research outputs found

    Model SNP development for complex genomes based on hexaploid oat using high-throughput 454 sequencing technology

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    <p>Abstract</p> <p>Background</p> <p>Genetic markers are pivotal to modern genomics research; however, discovery and genotyping of molecular markers in oat has been hindered by the size and complexity of the genome, and by a scarcity of sequence data. The purpose of this study was to generate oat expressed sequence tag (EST) information, develop a bioinformatics pipeline for SNP discovery, and establish a method for rapid, cost-effective, and straightforward genotyping of SNP markers in complex polyploid genomes such as oat.</p> <p>Results</p> <p>Based on cDNA libraries of four cultivated oat genotypes, approximately 127,000 contigs were assembled from approximately one million Roche 454 sequence reads. Contigs were filtered through a novel bioinformatics pipeline to eliminate ambiguous polymorphism caused by subgenome homology, and 96 <it>in silico </it>SNPs were selected from 9,448 candidate loci for validation using high-resolution melting (HRM) analysis. Of these, 52 (54%) were polymorphic between parents of the Ogle1040 × TAM O-301 (OT) mapping population, with 48 segregating as single Mendelian loci, and 44 being placed on the existing OT linkage map. Ogle and TAM amplicons from 12 primers were sequenced for SNP validation, revealing complex polymorphism in seven amplicons but general sequence conservation within SNP loci. Whole-amplicon interrogation with HRM revealed insertions, deletions, and heterozygotes in secondary oat germplasm pools, generating multiple alleles at some primer targets. To validate marker utility, 36 SNP assays were used to evaluate the genetic diversity of 34 diverse oat genotypes. Dendrogram clusters corresponded generally to known genome composition and genetic ancestry.</p> <p>Conclusions</p> <p>The high-throughput SNP discovery pipeline presented here is a rapid and effective method for identification of polymorphic SNP alleles in the oat genome. The current-generation HRM system is a simple and highly-informative platform for SNP genotyping. These techniques provide a model for SNP discovery and genotyping in other species with complex and poorly-characterized genomes.</p

    Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

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    OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

    Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

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    The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

    Toward Sustainable Environmental Quality : Priority Research Questions for Asia

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    Environmental and human health challenges are pronounced in Asia, an exceptionally diverse and complex region where influences of global megatrends are extensive and numerous stresses to environmental quality exist. Identifying priorities necessary to engage grand challenges can be facilitated through horizon scanning exercises, and to this end we identified and examined 23 priority research questions needed to advance toward more sustainable environmental quality in Asia, as part of the Global Horizon Scanning Project. Advances in environmental toxicology, environmental chemistry, biological monitoring, and risk-assessment methodologies are necessary to address the adverse impacts of environmental stressors on ecosystem services and biodiversity, with Asia being home to numerous biodiversity hotspots. Intersections of the food–energy–water nexus are profound in Asia; innovative and aggressive technologies are necessary to provide clean water, ensure food safety, and stimulate energy efficiency, while improving ecological integrity and addressing legacy and emerging threats to public health and the environment, particularly with increased aquaculture production. Asia is the largest chemical-producing continent globally. Accordingly, sustainable and green chemistry and engineering present decided opportunities to stimulate innovation and realize a number of the United Nations Sustainable Development Goals. Engaging the priority research questions identified herein will require transdisciplinary coordination through existing and nontraditional partnerships within and among countries and sectors. Answering these questions will not be easy but is necessary to achieve more sustainable environmental quality in Asia. Environ Toxicol Chem 2020;39:1485–1505

    HESTIA NextGen

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    Development and testing of HESTIApro and myHESTI

    Pregnancy and health in the age of the Internet: A content analysis of online "birth club" forums.

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    BACKGROUND:Although studies report that more than 90% of pregnant women utilize digital sources to supplement their maternal healthcare, little is known about the kinds of information that women seek from their peers during pregnancy. To date, most research has used self-report measures to elucidate how and why women to turn to digital sources during pregnancy. However, given that these measures may differ from actual utilization of online health information, it is important to analyze the online content pregnant women generate. OBJECTIVE:To apply machine learning methods to analyze online pregnancy forums, to better understand how women seek information from a community of online peers during pregnancy. METHODS:Data from seven WhatToExpect.com "birth club" forums (September 2018; January-June 2018) were scraped. Forum posts were collected for a one-year period, which included three trimesters and three months postpartum. Only initial posts from each thread were analyzed (n = 262,238). Automatic natural language processing (NLP) methods captured 50 discussed topics, which were annotated by two independent coders and grouped categorically. RESULTS:The largest topic categories were maternal health (45%), baby-related topics (29%), and people/relationships (10%). While pain was a popular topic all throughout pregnancy, individual topics that were dominant by trimester included miscarriage (first trimester), labor (third trimester), and baby sleeping routine (postpartum period). CONCLUSION:More than just emotional or peer support, pregnant women turn to online forums to discuss their health. Dominant topics, such as labor and miscarriage, suggest unmet informational needs in these domains. With misinformation becoming a growing public health concern, more attention must be directed toward peer-exchange outlets

    Image_1_Preschoolers’ attention to and learning from on-screen characters that vary by effort and efficiency: An eye-tracking study.PDF

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    Prior findings are mixed regarding the extent to which children understand others’ effort in early childhood. Especially, little is known about how character effort impacts children’s selective attention and learning. This study examined preschoolers’ visual attention to and learning from two on-screen characters: One character exerting high effort with low efficiency and another character exerting low effort with high efficiency in solving problems successfully. Children between 3.5 and 6.5 years of age (N = 70) watched a video of the two on-screen characters successfully solving problems. Children’s eye movements were recorded during viewing. Each of the two on-screen characters consistently displayed either high effort/low efficiency or low effort/high efficiency to solve four problems (familiarization). For the final problem (testing), the two characters exerted the same level of effort as each other and used unique solutions to solve the problem. Children then solved the final problem themselves using real objects. Children could selectively use either character’s solution demonstrated in the video. Lastly, children explicitly judged how good the characters were at solving problems. Younger children were more likely to use the solution demonstrated by the character with high effort/low efficiency, whereas older children were more likely to use the solution provided by another character with low effort/high efficiency. Younger children allocated more attention to the high effort/low efficiency character than the low effort/high efficiency character, but this pattern was modified by age such that children’s gaze to the low effort/high efficiency character increased with age. Children’s explicit credibility judgments did not differ by character or child age. The findings are discussed with respect to preschoolers’ understanding of effort and implications for children’s learning from screen media.</p
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