A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds

Epidermolysis bullosa (EB) is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB), is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling

A deficit of spatial remapping in constructional apraxia after right-hemisphere stroke

This Article is provided by the Brunel Open Access Publising Fund - Copyright @ 2010 Oxford University PressConstructional apraxia refers to the inability of patients to copy accurately drawings or three-dimensional constructions. It is a common disorder after right parietal stroke, often persisting after initial problems such as visuospatial neglect have resolved. However, there has been very little experimental investigation regarding mechanisms that might contribute to the syndrome. Here, we examined whether a key deficit might be failure to integrate visual information correctly from one fixation to the next. Specifically, we tested whether this deficit might concern remapping of spatial locations across saccades. Right-hemisphere stroke patients with constructional apraxia were compared to patients without constructional problems and neurologically healthy controls. Participants judged whether a pattern shifted position (spatial task) or changed in pattern (non-spatial task) across two saccades, compared to a control condition with an equivalent delay but without intervening eye movements. Patients with constructional apraxia were found to be significantly impaired in position judgements with intervening saccades, particularly when the first saccade of the sequence was to the right. The importance of these remapping deficits in constructional apraxia was confirmed through a highly significant correlation between saccade task performance and constructional impairment on standard neuropsychological tasks. A second study revealed that even single saccades to the right can impair constructional apraxia patients’ perception of location shifts. These data are consistent with the view that rightward eye movements result in loss of remembered spatial information from previous fixations, presumably due to constructional apraxia patients’ damage to the right-hemisphere regions involved in remapping locations across saccades. These findings provide the first evidence for a deficit in remapping visual information across saccades underlying right-hemisphere constructional apraxia.European Commission Marie Curie Intra-European Fellowship (011457 to C.R.) and a Wellcome Trust Senior Fellowship (to M.H.)

Coastal high-frequency radars in the Mediterranean ??? Part 2: Applications in support of science priorities and societal needs

International audienceThe Mediterranean Sea is a prominent climate-change hot spot, with many socioeconomically vital coastal areas being the most vulnerable targets for maritime safety, diverse met-ocean hazards and marine pollution. Providing an unprecedented spatial and temporal resolution at wide coastal areas, high-frequency radars (HFRs) have been steadily gaining recognition as an effective land-based remote sensing technology for continuous monitoring of the surface circulation, increasingly waves and occasionally winds. HFR measurements have boosted the thorough scientific knowledge of coastal processes, also fostering a broad range of applications, which has promoted their integration in coastal ocean observing systems worldwide, with more than half of the European sites located in the Mediterranean coastal areas. In this work, we present a review of existing HFR data multidisciplinary science-based applications in the Mediterranean Sea, primarily focused on meeting end-user and science-driven requirements, addressing regional challenges in three main topics: (i) maritime safety, (ii) extreme hazards and (iii) environmental transport process. Additionally, the HFR observing and monitoring regional capabilities in the Mediterranean coastal areas required to underpin the underlying science and the further development of applications are also analyzed. The outcome of this assessment has allowed us to provide a set of recommendations for future improvement prospects to maximize the contribution to extending science-based HFR products into societally relevant downstream services to support blue growth in the Mediterranean coastal areas, helping to meet the UN's Decade of Ocean Science for Sustainable Development and the EU's Green Deal goals

Coastal high-frequency radars in the Mediterranean ??? Part 1: Status of operations and a framework for future development

Due to the semi-enclosed nature of the Mediterranean Sea, natural disasters and anthropogenic activities impose stronger pressures on its coastal ecosystems than in any other sea of the world.With the aim of responding adequately to science priorities and societal challenges, littoral waters must be effectively monitored with high-frequency radar (HFR) systems. This land-based remote sensing technology can provide, in near-real time, fine-resolution maps of the surface circulation over broad coastal areas, along with reliable directional wave and wind information. The main goal of this work is to showcase the current status of the Mediterranean HFR network and the future roadmap for orchestrated actions. Ongoing collaborative efforts and recent progress of this regional alliance are not only described but also connected with other European initiatives and global frameworks, highlighting the advantages of this cost-effective instrument for the multi-parameter monitoring of the sea state. Coordinated endeavors between HFR operators from different multi-disciplinary institutions are mandatory to reach a mature stage at both national and regional levels, striving to do the following: (i) harmonize deployment and maintenance practices; (ii) standardize data, metadata, and quality control procedures; (iii) centralize data management, visualization, and access platforms; and (iv) develop practical applications of societal benefit that can be used for strategic planning and informed decision-making in the Mediterranean marine environment. Such fit-for-purpose applications can serve for search and rescue operations, safe vessel navigation, tracking of marine pollutants, the monitoring of extreme events, the investigation of transport processes, and the connectivity between offshore waters and coastal ecosystems. Finally, future prospects within the Mediterranean framework are discussed along with a wealth of socioeconomic, technical, and scientific challenges to be faced during the implementatio