162 research outputs found

    Trinity return-to-learn post-concussion protocol assessment

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    Return-to-learn protocols after concussion have received less attention than return-to-play protocols. Return-to-learn protocols are step by step guidelines for students and teachers to help ease concussed students back into their academic work. At Trinity College, faculty are given information on common effects of concussion and suggested academic accommodations. This study aimed to assess the entire return-to-learn protocol currently in place at Trinity College, with a specific focus on how well known the program is to students and how helpful they have found it, in an attempt to ascertain what aspects of the protocol work well and what could be improved. Faculty were surveyed to gain their input on how the protocol has worked and how cumbersome it was for them; and coaches were surveyed to assess if they had any role in helping their athletes return to the classroom as well as the playing field. Students who have been concussed were also given a series of cognitive measures to determine if particular cognitive profiles led to greater difficulty returning to the classroom. A majority of surveyed students and approximately half of the faculty and coaches were unfamiliar with the protocol. A deficit in executive function was found to correlate with current concussive symptoms. Severity of current concussive symptoms was found to correlate with severity of depressive symptoms. The results of this study suggest that the Trinity College community needs to be better educated on the return-to-learn protocol, extra care should be taken to account for potential rises in depressive conditions of concussed students, and accommodations for executive functions should be regularly provided

    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

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    Background: Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they do not present with clinically recognisable features. This makes it difficult to determine the molecular cause of this disorder on the basis of the phenotype alone. Mutations in KDM5C (previously named SMCX or JARID1C), a gene that encodes a transcriptional regulator with histone demethylase activity specific for dimethylated and trimethylated H3K4, are a comparatively frequent cause of non-syndromic X-linked mental retardation (NS-XLMR). Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated. Results: By whole-mount in situ hybridisation we showed that the mouse homologue of KDM5C is expressed in multiple tissues during mouse development. We present the results of gene expression profiling performed on lymphoblastoid cell lines as well as blood from patients with mutations in KDM5C. Using whole genome expression arrays and quantitative reverse transcriptase polymerase chain reaction (QRT-PCR) experiments, we identified several genes, including CMKOR1, KDM5B and KIAA0469 that were consistently deregulated in both tissues. Conclusions: Our findings shed light on the pathological mechanisms underlying mental retardation and have implications for future diagnostics of this heterogeneous disorder

    Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes

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    Copyright: © 2010 Stimpson et al.Genome rearrangement often produces chromosomes with two centromeres (dicentrics) that are inherently unstable because of bridge formation and breakage during cell division. However, mammalian dicentrics, and particularly those in humans, can be quite stable, usually because one centromere is functionally silenced. Molecular mechanisms of centromere inactivation are poorly understood since there are few systems to experimentally create dicentric human chromosomes. Here, we describe a human cell culture model that enriches for de novo dicentrics. We demonstrate that transient disruption of human telomere structure non-randomly produces dicentric fusions involving acrocentric chromosomes. The induced dicentrics vary in structure near fusion breakpoints and like naturally-occurring dicentrics, exhibit various inter-centromeric distances. Many functional dicentrics persist for months after formation. Even those with distantly spaced centromeres remain functionally dicentric for 20 cell generations. Other dicentrics within the population reflect centromere inactivation. In some cases, centromere inactivation occurs by an apparently epigenetic mechanism. In other dicentrics, the size of the alpha-satellite DNA array associated with CENP-A is reduced compared to the same array before dicentric formation. Extrachromosomal fragments that contained CENP-A often appear in the same cells as dicentrics. Some of these fragments are derived from the same alpha-satellite DNA array as inactivated centromeres. Our results indicate that dicentric human chromosomes undergo alternative fates after formation. Many retain two active centromeres and are stable through multiple cell divisions. Others undergo centromere inactivation. This event occurs within a broad temporal window and can involve deletion of chromatin that marks the locus as a site for CENP-A maintenance/replenishment.This work was supported by the Tumorzentrum Heidelberg/Mannheim grant (D.10026941)and by March of Dimes Research Foundation grant #1-FY06-377 and NIH R01 GM069514

    Volume 09

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    Introduction Dr. Roger A. Byrne Islamic Radicalization of Women in The United Kingdom by Mackenzie Adamson Harmony by Chad Benton The Rhetoric of Distrust: A Dangerous Game During the 2016 Presidential Campaign by Garrett Badgley Neither Man nor Monster: Frankenstein\u27s Creature as Posthuman by Anna Bultrowicz Holisticrx by Kelsey Daniel Reality Bytes: Identity in the Virtual World of Ernest Cline\u27s Ready Player One by Taylor Embrey Animation by Jose Romero Sue Klebold\u27s a Mother\u27s Reckoning: A Call to Action for Mental Health Advocacy by Taylor Hughes Hillary Clinton\u27s Rhetoric of Gender Inequality: The Past, the Present, nd the (Hypothetical) Future by Haley Klepatzki Against the Grain: Eat Gluten Free by Emily Spittle Following Judith: A Midrashic Approach to the Book of Judith by Kelsey Longnaker Identity and Dialect Adaptation: The Effect of Geography and Community on Dialect by Alexis Paige Manuel These are the Gardens Of The Desert : The Revolutionary Impact Of Bryant\u27s The Prairies on American Literature by Montana Nelson Beauty is Pain: Eating Disorders, Gender, and the Lies We Feed Young Women By Faith Shelton Be a Man: The Eradication of Gender in Y: The Last Man by Joseph Stearman A Computational Study of Molecular Electronics: The Role of Molecular Structure by John Brumfield The Importance of Voting by Monica Mcgraw Method for The Detection and Removal of Antibiotics in Bottled Water by Jayden Metzger Small Chimp Print by Maddie Smith Mental Health Impairments in Rural Communities by Lyndsey Swinhart F@#* That: The Effects of Swearing and Influence of Authority on Stress Level by Amanda N. Chappell And Haley C. Moore Friend or Faux? Prosocial and Antisocial Social Media Use and Personality Traits by Samantha Burgess, Heather Dunbar, Briana Hackett, Jackie Mcmillion, Kiana Simpkins, And Ta\u27miya Vanhook-Davis There\u27s Someone in My Head but It’s Not Me : Attitudes About Diagnosis and Treatment of Psychological Disorders by Kiana Simpkins, Lindsey Sparrock, And Leonie Verstraete Efflorescent Bonds by Kristen Melton Shower Thoughts by Ryan Bultrowic

    Why sequence all eukaryotes?

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    Life on Earth has evolved from initial simplicity to the astounding complexity we experience today. Bacteria and archaea have largely excelled in metabolic diversification, but eukaryotes additionally display abundant morphological innovation. How have these innovations come about and what constraints are there on the origins of novelty and the continuing maintenance of biodiversity on Earth? The history of life and the code for the working parts of cells and systems are written in the genome. The Earth BioGenome Project has proposed that the genomes of all extant, named eukaryotes-about 2 million species-should be sequenced to high quality to produce a digital library of life on Earth, beginning with strategic phylogenetic, ecological, and high-impact priorities. Here we discuss why we should sequence all eukaryotic species, not just a representative few scattered across the many branches of the tree of life. We suggest that many questions of evolutionary and ecological significance will only be addressable when whole-genome data representing divergences at all of the branchings in the tree of life or all species in natural ecosystems are available. We envisage that a genomic tree of life will foster understanding of the ongoing processes of speciation, adaptation, and organismal dependencies within entire ecosystems. These explorations will resolve long-standing problems in phylogenetics, evolution, ecology, conservation, agriculture, bioindustry, and medicine

    Child mental health differences amongst ethnic groups in Britain: a systematic review

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    BACKGROUND: Inter-ethnic differences have been reported for many mental health outcomes in the UK, but no systematic review on child mental health has been published. The aim of this review is to compare the population-based prevalence of child mental disorders between ethnic groups in Britain, and relate these findings to ethnic differences in mental health service use. METHODS: A systematic search of bibliographic databases for population-based and clinic-based studies of children aged 0-19, including all ethnic groups and the main child mental disorders. We synthesised findings by comparing each minority group to the White British study sample. RESULTS: 31 population-based and 18 clinic-based studies met the inclusion criteria. Children in the main minority groups have similar or better mental health than White British children for common disorders, but may have higher rates for some less common conditions. The causes of these differences are unclear. There may be unmet need for services among Pakistani and Bangladeshi children. CONCLUSION: Inter-ethnic differences exist but are largely unexplained. Future studies should address the challenges of cross-cultural psychiatry and investigate reasons for inter-ethnic differences

    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

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    Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Analysis of whole-genome sequence (WGS) data with five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)exp] in the gene encoding Replication Factor C1 (RFC1). This motif, not reported in the reference sequence, localized to an Alu element and replaced the reference (AAAAG)11 short tandem repeat. Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. WGS of the four RFC1-negative CANVAS-affected families identified plausible variants in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45. This study identified the genetic basis of CANVAS and demonstrated that these improved bioinformatics tools increase the diagnostic utility of WGS to determine the genetic basis of a heterogeneous group of clinically overlapping neurogenetic disorders

    Single and multiple dose pharmacokinetics of maritime pine bark extract (Pycnogenol) after oral administration to healthy volunteers

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    BACKGROUND: Since plant extracts are increasingly used as phytotherapeutics or dietary supplements information on bioavailability, bioefficacy and safety are warranted. We elucidated the plasma kinetics of genuine extract components and metabolites after single and multiple ingestion of the standardized maritime pine bark extract Pycnogenol (USP quality) by human volunteers. METHODS: Eleven volunteers received a single dose of 300 mg pine bark extract, five volunteers ingested 200 mg daily for five days to reach steady state concentrations. Plasma samples were obtained before and at defined time points after intake of the extract. Samples were analyzed by HPLC with ion-pair reagents and simultaneous UV and electrochemical detection. RESULTS: We quantified total plasma concentrations of catechin, caffeic acid, ferulic acid, taxifolin and the metabolite M1 (δ-(3,4-dihydroxy-phenyl)-γ-valerolactone). Additionally, we describe plasma time courses and steady state appearance of ten so far unknown compounds, U1 to U10. After single ingestion, compounds derived from the extract were rapidly absorbed and the majority of them were detectable over whole experimental period of 14 h. The analysis of steady state plasma samples revealed significant phase II metabolism. CONCLUSION: We present the first systematic pharmacokinetic analysis of compounds derived from maritime pine bark extract. Beyond the known constituents and metabolites we uncovered the plasma time courses of ten unknown compounds. In concert with our previous detection of anti-inflammatory bioefficacy of these plasma samples ex vivo we suggest that constituents and metabolites of Pycnogenol bear potential for disclosure of novel active principles
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