3,924 research outputs found

    Functional Glyconanomaterials

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    Nanotechnology provides a new array of techniques and platforms to study biological processes including glycosystems [...

    Comparative genomics of the Hedgehog loci in chordates and the origins of Shh regulatory novelties

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    The origin and evolution of the complex regulatory landscapes of some vertebrate developmental genes, often spanning hundreds of Kbp and including neighboring genes, remain poorly understood. The Sonic Hedgehog (Shh) genomic regulatory block (GRB) is one of the best functionally characterized examples, with several discrete enhancers reported within its introns, vast upstream gene-free region and neighboring genes (Lmbr1 and Rnf32). To investigate the origin and evolution of this GRB, we sequenced and characterized the Hedgehog (Hh) loci from three invertebrate chordate amphioxus species, which share several early expression domains with Shh. Using phylogenetic footprinting within and between chordate lineages, and reporter assays in zebrafish probing >30 Kbp of amphioxus Hh, we report large sequence and functional divergence between both groups. In addition, we show that the linkage of Shh to Lmbr1 and Rnf32, necessary for the unique gnatostomate-specific Shh limb expression, is a vertebrate novelty occurred between the two whole-genome duplications

    The Holocene Cedrus pollen record from Sierra Nevada (S Spain), a proxy for climate change in N Africa

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    Comprehending the effects of climate variability and disturbance on forested ecosystems is paramount to successfully managing forest environments under future climate scenarios (e.g., global warming, aridi-fication increase). Changes in fossil pollen abundance in sedimentary archives record past vegetation dynamics at regional scales, mainly related to climate changes and, in the last few millennia, to human impact. Pollen records can thus provide long databases with information on how the environment reacted to climate change before the historical record. In this study, we synthesized fossil pollen data from seven sites from the Sierra Nevada in southern Spain to investigate the response of forests in the western Mediterranean area to millennial-scale climate changes and to human impact during the Holocene. In particular, here we focused on Cedrus pollen abundances, which most-likely originated from Northern Africa and were carried to Sierra Nevada by wind. Cedrus pollen has received little attention in the Iberian Peninsula palynological records, for it occurs in low concentrations and has an African source, and thus this article explores the potential to reconstruct its past history and climate. Although Cedrus abundances are generally lower than 1% in the studied pollen samples, a comparison with North African (Moroccan) Cedrus pollen records shows similar trends at long- and short-term time-scales. Therefore, this record could be used as a proxy for changes in this forest species in North Africa. As observed in the Sierra Nevada synthetic record, the increasing trend of Cedrus pollen during the Middle and Late Holocene closely correlates with decreasing summer insolation. This would have produced overall cooler annual temperatures in Northern Africa (Middle Atlas and Rif Mountains) as well as lower summer evaporation, benefiting the growth of this cool-adapted montane tree species while increasing available moisture during the summer, which is critical for this water-demanding species. Millennial-scale variability also characterizes the Sierra Nevada Cedrus synthetic pollen record. Cedrus abundance oscillations co-vary with well-known millennial-scale climatic variability that controlled cedar abundance and altitudinal distribution in montane areas of N Africa. (C) 2020 Elsevier Ltd. All rights reserved.Peer reviewe

    Are Major Repeater Patients Addicted to Suicidal Behavior?

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    The literature provides support for the hypothesis that some major repeaters (individuals with \u3e=5 lifetime suicide attempts) are addicted to suicidal behavior (SB). This study explores whether major repeaters are addicted to SB or not using 7 criteria: tolerance (Criterion 1), withdrawal (Criterion 2), loss of control (Criterion 3), problems in quitting/cutting down (Criterion 4), much time spent using (Criterion 5), substantial reduction in activities (Criterion 6), and adverse physiological/physical consequences (Criterion 7). Total dependence on SB was indicated by the presence of 3 or more of the 7 criteria in the last 12 months. This cross-sectional study at Puerta de Hierro University Hospital (Madrid, Spain) recruited 118 suicide attempters including 8 major repeaters (7%, 8/118), who were all females. The association between each SB addiction criterion, physiological dependence and total dependence with major repeater status was tested for significance and for effect size with odds ratios (ORs) and their 95% confidence intervals. As hypothesized, major repeaters met significantly higher frequency of criteria for total dependence on SB, OR=62.9 (6.4-615). A backward stepwise logistic regression model was used to provide an OR between major repeater status and total dependence status corrected by confounding variables. Age, panic disorder without agoraphobia, borderline personality disorder, history of psychiatric inpatient admission, and total dependence on SB were introduced as independent variables with major repeater status as the dependent variable. The model selected total dependence and age as the remaining significant variables in the last step. Accordingly, major repeaters appear to be addicted to SB

    Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

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    <p>Abstract</p> <p>Background</p> <p>Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the <it>USH2A </it>gene account for 74-90% of the USH2 cases.</p> <p>Methods</p> <p>To identify the genetic cause of the disease and determine the frequency of <it>USH2A </it>mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing.</p> <p>Results</p> <p>As a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and <it>in vitro </it>experiments, 37 variants (23 of them novel) were classified as pathogenic mutations.</p> <p>Conclusions</p> <p>This report provide a wide spectrum of <it>USH2A </it>mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in <it>USH2A </it>are responsible for 76.1% of USH2 disease in patients of Spanish origin.</p

    CSA06 Computing, Software and Analysis challenge at the Spanish Tier-1 and Tier-2 sites

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    This note describes the participation of the Spanish centres PIC, CIEMAT and IFCA as Tier-1 and Tier-2 sites in the CMS CSA06 Computing, Software and Analysis challenge. A number of the facilities, services and workflows have been demonstrated at the 2008 25% scale. Very valuable experience has been gained running the complex computing system under realistic conditions at a significant scale. The focus of this note is on presenting achieved results, operational experience and lessons learnt during the challenge

    Knowledge, attitudes and preventive practices of primary health care professionals towards alcohol use: A national, cross-sectional study.

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    Introduction Primary care (PC) professionals' knowledge about alcohol use has been identified as one of the barriers PC providers face in their clinic. Both PC professionals’ level of training and attitude are crucial in the clinical practice regarding alcohol use. Objective To evaluate the knowledge, attitude, and preventive practices of Spanish PC physicians and nurses towards alcohol use. Design An observational, descriptive, cross-sectional, multi-center study. Methodology Location: PC centers of the Spanish National Health System (NHS). Participants: PC physicians and nurses selected randomly from health care centers, and by sending an e-mail to semFYC and SEMERGEN members. Healthcare providers completed an online survey on knowledge, attitude, and follow-up recommendations for reducing alcohol intake. A descriptive, bivariate, and multivariate statistical analysis was conducted (p<0.05). Results Participants: 1,760 healthcare providers completed the survey (75.6% [95% CI 73.5–77.6] family physicians; 11.4% [95% CI 9.9–12.9] medical residents; and 12.5% [95% CI 10.9–14.1] nurses), with a mean age of 44.7 (SD 11.24, range: 26–64, 95% CI: 47.2–48.2). Knowledge was higher in family physicians (p<0.001), older professionals (Spearman's r = 0.11, p<0.001), and resident trainers (p<0.001). The PC professional most likely to provide advice for reducing alcohol use was: a nurse (p <0.001), female (p = 0.010), between 46 and 55 years old (p <0.001). Conclusions PC providers’ knowledge and preventive practices regarding alcohol use are scarce, hence specific training strategies to increase their knowledge and improve their attitude and skills with regard to this health problem should be considered a healthcare policy priority.post-print507 K
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