Project description:Genetic factors play an important role in determining the risk of multiple sclerosis (MS). The strongest genetic association in MS is located within the major histocompatibility complex class II region (MHC), but more than 50 MS loci of modest effect located outside the MHC have now been identified. However, the relative candidate genes that underlie these associations and their functions are largely unknown. We conducted a protein-protein interaction (PPI) analysis of gene products coded in loci recently reported to be MS associated at the genome-wide significance level and in loci suggestive of MS association. Our aim was to identify which suggestive regions are more likely to be truly associated, which genes are mostly implicated in the PPI network and their expression profile. From three recent independent association studies, SNPs were considered and divided into significant and suggestive depending on the strength of the statistical association. Using the Disease Association Protein-Protein Link Evaluator tool we found that direct interactions among genetic products were significantly higher than expected by chance when considering both significant regions alone (p<0.0002) and significant plus suggestive (p<0.007). The number of genes involved in the network was 43. Of these, 23 were located within suggestive regions and many of them directly interacted with proteins coded within significant regions. These included genes such as SYK, IL-6, CSF2RB, FCLR3, EIF4EBP2 and CHST12. Using the gene portal BioGPS, we tested the expression of these genes in 24 different tissues and found the highest values among immune-related cells as compared to non-immune tissues (p<0.001). A gene ontology analysis confirmed the immune-related functions of these genes. In conclusion, loci currently suggestive of MS association interact with and have similar expression profiles and function as those significantly associated, highlighting the fact that more common variants remain to be found to be associated to MS.
Project description:The increase in the size of the scientific community created an explosion in scientific production. We have analyzed the dynamics of biomedical scientific output during 1957-2007 by applying a bibliometric analysis of the PubMed database using different keywords representing specific biomedical topics. With the assumption that increased scientific interest will result in increased scientific output, we compared the output of specific topics to that of all scientific output. This analysis resulted in three broad categories of topics; those that follow the general trend of all scientific output, those that show highly variable output, and attractive topics which are new and grow explosively. The analysis of the citation impact of the scientific output resulted in a typical longtail distribution: the majority of journals and articles are of very low impact. This distribution has remained unchanged since 1957, although the interests of scientists must have shifted in this period. We therefore analyzed the distribution of articles in top journals and lower impact journals over time for the attractive topics. Novelty is rewarded by publication in top journals. Over time more articles are published in low impact journals progressively creating the longtail distribution, signifying acceptance of the topic by the community. There can be a gap of years between novelty and acceptance. Within topics temporary novelty is created with new subtopics. In conclusion, the longtail distribution is the foundation of the scientific output of the scientific community and can be used to examine different aspects of science practice.
Project description:Pulmonary hypertensive vascular disease (PHVD), and pulmonary hypertension (PH), which is a broader term, are severe conditions associated with high morbidity and mortality at all ages. Treatment guidelines in childhood are widely adopted from adult data and experience, though big differences may exist regarding aetiology, concomitant conditions and presentation. Over the past few years, paediatric aspects have been incorporated into the common guidelines, which currently address both children and adults with pulmonary hypertension (PH). There are multiple facets of PH in the context of cardiac conditions in childhood. Apart from Eisenmenger syndrome (ES), the broad spectrum of congenital heart disease (CHD) comprises PH in failing Fontan physiology, as well as segmental PH. In this review we provide current data and novel aspects on the pathophysiological background and individual management concepts of these conditions. Moreover, we focus on paediatric left heart failure with PH and its challenging issues, including end stage treatment options, such as mechanical support and paediatric transplantation. PH in the context of rare congenital disorders, such as Scimitar Syndrome and sickle cell disease is discussed. Based on current data, we provide an overview on multiple underlying mechanisms of PH involved in these conditions, and different management strategies in children and adulthood. In addition, we summarize the paediatric aspects and the pros and cons of the recently updated definitions of PH. This review provides deeper insights into some challenging conditions of paediatric PH in order to improve current knowledge and care for children and young adults.
Project description:Every day, huge numbers of instant tweets (messages) are published on Twitter as it is one of the massive social media for e-learners interactions. The options regarding various interesting topics to be studied are discussed among the learners and teachers through the capture of ideal sources in Twitter. The common sentiment behavior towards these topics is received through the massive number of instant messages about them. In this paper, rather than using the opinion polarity of each message relevant to the topic, authors focus on sentence level opinion classification upon using the unsupervised algorithm named bigram item response theory (BIRT). It differs from the traditional classification and document level classification algorithm. The investigation illustrated in this paper is of threefold which are listed as follows: (1) lexicon based sentiment polarity of tweet messages; (2) the bigram cooccurrence relationship using naïve Bayesian; (3) the bigram item response theory (BIRT) on various topics. It has been proposed that a model using item response theory is constructed for topical classification inference. The performance has been improved remarkably using this bigram item response theory when compared with other supervised algorithms. The experiment has been conducted on a real life dataset containing different set of tweets and topics.
Project description:Listener behavior has been shown to influence speaker behavior. However, little is known about the extent to which listener behavior can influence countertherapeutic outcomes. This study evaluated the influence of listener interest on the topics presented by adult participants conversing with an experimenter acting as an individual who exhibited restricted interests. Each session consisted of a 5-min conversation, during which the participant was instructed to talk about 3 topics. We compared the duration of topic presentation across phases in which the experimenter behaved as an interested listener for 1 topic or for all 3 topics. Results showed that topic presentation was controlled by listener interest and all participants reported that the simulation was believable, acceptable, and useful. Although preliminary, these findings have implications for understanding possible undesirable interactions between individuals diagnosed with autism spectrum disorder who exhibit restricted interests and their peers or caregivers.
Project description:With the continuous growth of internet usage, Google Trends has emerged as a source of information to investigate how social trends evolve over time. Knowing how the level of interest in conservation topics--approximated using Google search volume--varies over time can help support targeted conservation science communication. However, the evolution of search volume over time and the mechanisms that drive peaks in searches are poorly understood. We conducted time series analyses on Google search data from 2004 to 2013 to investigate: (i) whether interests in selected conservation topics have declined and (ii) the effect of news reporting and academic publishing on search volume. Although trends were sensitive to the term used as benchmark, we did not find that public interest towards conservation topics such as climate change, ecosystem services, deforestation, orangutan, invasive species and habitat loss was declining. We found, however, a robust downward trend for endangered species and an upward trend for ecosystem services. The quantity of news articles was related to patterns in Google search volume, whereas the number of research articles was not a good predictor but lagged behind Google search volume, indicating the role of news in the transfer of conservation science to the public.
Project description:PurposeTo quantify the coronavirus disease 2019 (COVID-19) pandemic's impact on public interest in sports medicine and surgery topics.MethodsThe Google Trends analysis tool (Google Search Volume Indices [GSVI]) was used to collect search information regarding orthopaedic sports medicine terms ("ACL," "meniscus," "rotator cuff") and sports surgery terms ("ACL surgery," "meniscus surgery," "rotator cuff surgery") from May 2015 to May 2020. A time series analysis was performed for these GSVIs and compared to the timing of the pandemic.ResultsInterest in both sports medicine and surgery declined following the COVID-19 outbreak. Following the World Health Organization's statement on COVID-19's pandemic status on March 11, 2020, searches for "ACL," "meniscus" and "rotator cuff" declined by 34.78%, 43.95%, and 31.37%, and search for "ACL surgery," "meniscus surgery" and "rotator cuff surgery" declined by 42.70%, 51.88%, and 53.32%, respectively.ConclusionThe COVID-19 outbreak correlated with a decline in public interest in sports medicine and sports surgery topics, as measured by Google searches.Clinical relevanceOrthopaedic sports medicine and arthroscopy patient and surgical case volumes were negatively affected by various factors after the onset of the pandemic. One factor associated with the volume decrease is a decline in public interest.
Project description:The cosmopolitan genus Fraxinus comprises about 40 species occupying several habitats in the Northern Hemisphere. With some species hybridizing and sharing genetic variants, questions remain on the species assignment of germplasm within the genus Fraxinus despite numerous species-specific assessments. A multidisciplinary approach was employed to provide a definitive insight into the genetics of an endangered Fraxinus "manna ash" collection, located in a rich plant biodiversity hotspot of the Madonie Mountains (Sicily). Although the collection size was small, genetic diversity, assessed by chloroplast (cpSSR) and nuclear (nSSR) microsatellites (SSR-Simple Sequence Repeats), allowed identifying three different chloroplast haplotypes, with one (H5) dominant, and several polymorphic loci, able to discriminate most of the local accessions studied. Molecular data were linked to cytofluorimetric and phenotypic evaluations and, contrary to popular belief that manna ash is Fraxinus ornus L., the germplasm currently used for manna production belongs to Fraxinus angustifolia Vahl. Interestingly, joint analysis of our genetic panel with a large European dataset of Fraxinus spp. suggested the presence of a possible glacial refuge in Sicily, confirming its importance as biodiversity source. Our results will be helpful for the design of long-term conservation programs for genetic resources, such as in situ and ex situ conservation, seed collection and tree reintroduction.