109 research outputs found
Interactivity Improves Usability of Geographic Maps for Visually Impaired People
International audienceTactile relief maps are used by visually impaired people to acquire mental representation of space, but they retain important limitations (limited amount of information, braille text, etc.). Interactive maps may overcome these limitations. However, usability of these two types of maps had never been compared. It is then unknown whether interactive maps are equivalent or even better solutions than traditional raised-line maps. This study presents a comparison of usability of a classical raised-line map vs. an interactive map composed by a multi-touch screen, a raised-line overlay and audio output. Both maps were tested by 24 blind participants. We measured usability as efficiency, effectiveness and satisfaction. Our results show that replacing braille with simple audio-tactile interaction significantly improved efficiency and user satisfaction. Effectiveness was not related to the map type but depended on users' characteristics as well as the category of assessed spatial knowledge. Long-term evaluation of acquired spatial information revealed that maps, whether interactive or not, are useful to build robust survey-type mental representations in blind users. Altogether, these results are encouraging as they show that interactive maps are a good solution for improving map exploration and cognitive mapping in visually impaired people
Hypoxia inducible factor 1α gene (HIF-1α) splice variants: potential prognostic biomarkers in breast cancer
<p>Abstract</p> <p>Background</p> <p>Hypoxia-inducible factor 1 (HIF-1) is a master transcriptional regulator of genes regulating oxygen homeostasis. The HIF-1 protein is composed of two HIF-1α and HIF-1β/aryl hydrocarbon receptor nuclear translocator (ARNT) subunits. The prognostic relevance of HIF-1α protein overexpression has been shown in breast cancer. The impact of HIF-1α alternative splice variant expression on breast cancer prognosis in terms of metastasis risk is not well known.</p> <p>Methods</p> <p>Using real-time quantitative reverse transcription PCR assays, we measured mRNA concentrations of total <it>HIF-1α </it>and 4 variants in breast tissue specimens in a series of 29 normal tissues or benign lesions (normal/benign) and 53 primary carcinomas. In breast cancers <it>HIF-1α </it>splice variant levels were compared to clinicopathological parameters including tumour microvessel density and metastasis-free survival.</p> <p>Results</p> <p><it>HIF-1α </it>isoforms containing a three base pairs TAG insertion between exon 1 and exon 2 (designated <it>HIF-1α</it><sup><it>TAG</it></sup>) and <it>HIF-1α</it><sup><it>736 </it></sup>mRNAs were found expressed at higher levels in oestrogen receptor (OR)-negative carcinomas compared to normal/benign tissues (<it>P </it>= 0.009 and <it>P </it>= 0.004 respectively). In breast carcinoma specimens, lymph node status was significantly associated with <it>HIF-1α</it><sup><it>TAG </it></sup>mRNA levels (<it>P </it>= 0.037). Significant statistical association was found between tumour grade and <it>HIF-1α</it><sup><it>TAG </it></sup>(<it>P </it>= 0.048), and total <it>HIF-1α </it>(<it>P </it>= 0.048) mRNA levels. <it>HIF-1α</it><sup><it>TAG </it></sup>mRNA levels were also inversely correlated with both oestrogen and progesterone receptor status (<it>P </it>= 0.005 and <it>P </it>= 0.033 respectively). Univariate analysis showed that high <it>HIF-1α</it><sup><it>TAG </it></sup>mRNA levels correlated with shortened metastasis free survival (<it>P </it>= 0.01).</p> <p>Conclusions</p> <p>Our results show for the first time that mRNA expression of a <it>HIF-1α</it><sup><it>TAG </it></sup>splice variant reflects a stage of breast cancer progression and is associated with a worse prognosis.</p> <p>See commentary: <url>http://www.biomedcentral.com/1741-7015/8/45</url></p
The great melting pot. Common sole population connectivity assessed by otolith and water fingerprints
Quantifying the scale and importance of individual dispersion between populations and life stages is a key challenge in marine ecology. The common sole (Solea solea), an important commercial flatfish in the North Sea, Atlantic Ocean and the Mediterranean Sea, has a marine pelagic larval stage, a benthic juvenile stage in coastal nurseries (lagoons, estuaries or shallow marine areas) and a benthic adult stage in deeper marine waters on the continental shelf. To date, the ecological connectivity among these life stages has been little assessed in the Mediterranean. Here, such an assessment is provided for the first time for the Gulf of Lions, NW Mediterranean, based on a dataset on otolith microchemistry and stable isotopic composition as indicators of the water masses inhabited by individual fish. Specifically, otolith Ba/Ca and Sr/Ca profiles, and delta C-13 and delta O-18 values of adults collected in four areas of the Gulf of Lions were compared with those of young-of-the-year collected in different coastal nurseries. Results showed that a high proportion of adults (>46%) were influenced by river inputs during their larval stage. Furthermore Sr/Ca ratios and the otolith length at one year of age revealed that most adults (similar to 70%) spent their juvenile stage in nurseries with high salinity, whereas the remainder used brackish environments. In total, data were consistent with the use of six nursery types, three with high salinity (marine areas and two types of highly saline lagoons) and three brackish (coastal areas near river mouths, and two types of brackish environments), all of which contributed to the replenishment of adult populations. These finding implicated panmixia in sole population in the Gulf of Lions and claimed for a habitat integrated management of fisherie
Animal-borne telemetry: An integral component of the ocean observing toolkit
Animal telemetry is a powerful tool for observing marine animals and the physical environments that they inhabit, from coastal and continental shelf ecosystems to polar seas and open oceans. Satellite-linked biologgers and networks of acoustic receivers allow animals to be reliably monitored over scales of tens of meters to thousands of kilometers, giving insight into their habitat use, home range size, the phenology of migratory patterns and the biotic and abiotic factors that drive their distributions. Furthermore, physical environmental variables can be collected using animals as autonomous sampling platforms, increasing spatial and temporal coverage of global oceanographic observation systems. The use of animal telemetry, therefore, has the capacity to provide measures from a suite of essential ocean variables (EOVs) for improved monitoring of Earth's oceans. Here we outline the design features of animal telemetry systems, describe current applications and their benefits and challenges, and discuss future directions. We describe new analytical techniques that improve our ability to not only quantify animal movements but to also provide a powerful framework for comparative studies across taxa. We discuss the application of animal telemetry and its capacity to collect biotic and abiotic data, how the data collected can be incorporated into ocean observing systems, and the role these data can play in improved ocean management
Distribution and Cconnection to other Plant-Communities of Genista radiata (L.) Scop in the South Tyrol (Italy)
Es werden die Genista radiata-Bestände an der Mendel in Südtirol (Italien) beschrieben und ihr Gesellschaftsanschluß diskutiert. Das Genisto-Festucetum alpestris Peer 83 besidelt steile südexponierte Kalkhänge der hochmontanen und subalpinen Stufe und ersetzt z.T. den Zwergstrauchgürtel mit Pinus mugo. Ähnlich zusammengesetzt ist das Genisto-Festucetum alpestris pinetosum Peer 83, das in den ¡lockeren Erika-Kiefernwäldern auftritt und bis in die tiefmontane Stufe hinunterreicht. Keinerlei syntaxonomische Bedeutung besitzt Genista radiata in den thermophilen Buschwaldgesellschaften, in denen die Pflanze lediglich eine Variante zum Orno-Ostryetum seslerietosum Peer 81 darstellt und speziell in der Saumzone anzutreffen ist. Auch in den Lärchenwiesen der Kammlagen kommt Genista radiata nur sporadisch vor. Sie ist hier mit dem Festucetum nigrescentis laricetosum subass. prov. verzahnt.Istražene su vegetacijske sastojine vrste Genista radiata u južnom Tirolu i razmatrana njihova fitocenološka pripadnost. Asocijacija Genisto-Festucetum alpestris Peer 83 nastava strme, južne vapnenačke obronke visokobrdskog i subalpskog pojasa. Subasocijacija Genisto-Festucetum alpestris pinetosum Peer 83 dolazi u rijetkim borovim šumama s crnjušom i spušta se do u niži brdski pojas. Termofilne niske šume, u kojima Genista radiata nema posebno sintaksonomsko značenje, označene su samo kao varijanta zajednice Orno-Ostryetum seslerietosum Peer 81. Genista radiata dolazi također na travnjacima s arišem, ali samo sporadično i to u mješavini sa zajednicom Festucetum nigrescentis laricetosnm subass. prov.The Genista radiata-communities of the Mendel in the South Tyrol (Italy) are described and their connection to other plant-communities is discussed. Genisto-Festucetum alpestris Peer 83 settles on steep, south- exposed colcareous slopes of high-mountain and subalpine altitudes and replaces particularly the dwarf-shrub-belt with Firms mugo. Similar contents aire found in Genisto-F estucetum alpestris pinetasum Peer 83, which occurs in undensed Erico-Pinetum-communities and reaches down to the low-mountain-altitude. In the thermophilic bush-communities, in which Genista radiata is found only as a variant of Orneto-Ostryetum seslerie- tosum (Peer 81), the plant has no syntaxonomic importance. Genista radiata especially is found in the edge-zone. In the grassland of the larch- communities of the ridges Genista radiata appears only sporadically. Here the plant appeals in Festucetum nigrescentis laricetosum subass. prov
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Dispersion des plantes par les ongulés forestiers
National audienceCet article support de la fête de la Science 2013 décrit le projet de Recherche DIPLO mené en Région centre sur le rôle des ongulés forestiers dans la dispersion des plantes. Les premiers résultats montrent que les ongulés sont à l'origine de la dispersion dans leur pelage d'au moins une plante sur 7. Sachant que ces espèces animales effectuent d'importants trajets journaliers, les ongulés sauvages sont à même de disperser des plantes sur de longues distance
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