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

Comparative diagnostic performance of rapid antigen detection tests for COVID-19 in a hospital setting

Background: The availability of accurate and rapid diagnostic tools for COVID-19 is essential for tackling the ongoing pandemic. Our study aimed to quantify the performance of available antigen-detecting rapid diagnostic tests (Ag-RDTs) in a real-world hospital setting. Methods: In this retrospective analysis, the diagnostic performance of 7 Ag-RDTs was compared with real-time reverse transcription quantitative polymerase chain reaction assay in terms of sensitivity, specificity and expected predictive values. Results: A total of 321 matched Ag-RDTreal-time reverse transcription quantitative polymerase chain reaction samples were analyzed retrospectively. The overall sensitivity and specificity of the Ag-RDTs was 78.7% and 100%, respectively. However, a wide range of sensitivity estimates by brand (66.0%–93.8%) and cycle threshold (Ct) cut-off values (Ct <25: 96.2%; Ct 30–35: 31.1%) was observed. The optimal Ct cut-off value that maximized sensitivity was 29. Conclusions: The routine use of Ag-RDTs may be convenient in moderate-to-high intensity settings when high volumes of specimens are tested every day. However, the diagnostic performance of the commercially available tests may differ substantially

To Issue or not to Issue a Visa to "Ri Toki" : A Comparative Study of the Headlines of Japanese Major Newspapers in 2001.

社会的コミュニケーションにおいて､情報はメッセージ内容だけで伝達されることはない。人間が伝達し、また受容するメッセージは、必ずその重要性と信憑性についての荷重要素（メタメッセージ）をともなう。新聞は限られた紙面への割付けと見出しの構成によって、この荷重成分つまり記事の重要性を伝達する特有のメディアである。本稿は、2001年3月～4月にかけて、李登輝元台湾総統の訪日ビザ申請をめぐって日本の4大紙がくり広げた「荷重報道」について､紙面上に展開された「記事面積」と「見出し文字の大小」を取りあげて定量化した。さらに、「見出し語」の選択性にふくまれる（暗黙の）価値評価について定性的分析を加え、これらをあわせて時系列のグラフとして表示する手法を開発した。荷重報道の「セミオグラフ(semio-graph)」と名づけたこの表示法によって、各新聞社の「報道姿勢」をより具体的に記述し、その通時的な変化の軌跡や各社間の違いを視覚的な形で（初歩的な段階ではあるが）比較・検討することが可能になった。デキゴト（ニュース）に対する強調や軽視、色づけなど選択的な「重みづけ」（荷重）のあり方に注目するこの研究法を発展させることによって、受け手にも送り手にも明確に意識されることなく生きられる「メデイアの無意識」の次元に一定の照明をあたえることができるかもしれない。In social communications, message are always communicated with a meta-message which indicates positive or negative importance of the message itself. We call the latter elements of human communication "semioweights". Newspapers express this semio-weights (implicitly or explicitly) by means of the font of letters of the headline, as well as the space of the article. We analyzed the size of headlines and keywords of articles reporting the "issuing a visa to Ri Toki", the ex-president of Taiwan, which raised a big dispute around April of 2001 in major Japanese newspapers. The strength of positive or negative semioweights were measured and plotted to visualize the correlation respective newspapers and to track the process of changing opinions. The convergence characterizes the formation process of public opinion in democratic society with plural media

Business experience and start-up size: buying more lottery tickets next time around?

This paper explores the determinants of start-up size by focusing on a cohort of 6247 businesses that started trading in 2004, using a unique dataset on customer records at Barclays Bank. Quantile regressions show that prior business experience is significantly related with start-up size, as are a number of other variables such as age, education and bank account activity. Quantile treatment effects (QTE) estimates show similar results, with the effect of business experience on (log) start-up size being roughly constant across the quantiles. Prior personal business experience leads to an increase in expected start-up size of about 50%. Instrumental variable QTE estimates are even higher, although there are concerns about the validity of the instrument

SHR overexpression induces the formation of supernumerary cell layers with cortex cell identity in rice

The number of root cortex cell layers varies among plants, and many species have several cortical cell layers. We recently demonstrated that the two rice orthologs of the Arabidopsis SHR gene, OsSHR1 and OsSHR2, could complement the A. thaliana shr mutant. Moreover, OsSHR1 and OsSHR2 expression in A. thaliana roots induced the formation of extra root cortical cell layers. In this article, we demonstrate that the overexpression of AtSHR and OsSHR2 in rice roots leads to plants with wide and short roots that contain a high number of extra cortical cell layers. We hypothesize that SHR genes share a conserved function in the control of cortical cell layer division and the number of ground tissue cell layers in land plants

Normative values of the topological metrics of the structural connectome: A multi-site reproducibility study across the Italian Neuroscience network

Purpose: The use of topological metrics to derive quantitative descriptors from structural connectomes is receiving increasing attention but deserves specific studies to investigate their reproducibility and variability in the clinical context. This work exploits the harmonization of diffusion-weighted acquisition for neuroimaging data performed by the Italian Neuroscience and Neurorehabilitation Network initiative to obtain normative values of topological metrics and to investigate their reproducibility and variability across centers. / Methods: Different topological metrics, at global and local level, were calculated on multishell diffusion-weighted data acquired at high-field (e.g. 3 T) Magnetic Resonance Imaging scanners in 13 different centers, following the harmonization of the acquisition protocol, on young and healthy adults. A “traveling brains” dataset acquired on a subgroup of subjects at 3 different centers was also analyzed as reference data. All data were processed following a common processing pipeline that includes data pre-processing, tractography, generation of structural connectomes and calculation of graph-based metrics. The results were evaluated both with statistical analysis of variability and consistency among sites with the traveling brains range. In addition, inter-site reproducibility was assessed in terms of intra-class correlation variability. / Results: The results show an inter-center and inter-subject variability of <10%, except for “clustering coefficient” (variability of 30%). Statistical analysis identifies significant differences among sites, as expected given the wide range of scanners’ hardware. / Conclusions: The results show low variability of connectivity topological metrics across sites running a harmonised protocol

Antimicrobial use and microbiological testing in district general hospital ICUs of the Veneto region of north-east Italy

International - predominantly American - studies undertaken in the ICUs of teaching centres show that inadequate antibiotic therapy increases mortality and length of stay. We sought to ascertain whether this also pertains to smaller ICUs in the Veneto region of north-east Italy. To the best of our knowledge, this is the first such survey in the Veneto area or in Italy as a whole. A retrospective, observational study was performed across five general-hospital ICUs to examine appropriateness of microbiological sampling, empirical antibiotic adequacy, and outcomes. Among 911 patients (mean age, 65.8 years ± 16.2 SD; median ICU stay, 17.0 days [IQR, 8.0–29.0]), 757 (83.1 %) were given empirical antibiotics. Treatment adequacy could be fully assessed in only 212 patients (28.0 %), who received empirical treatment and who had a relevant clinical sample collected at the initiation of this antibiotic (T0). Many other patients only had delayed microbiological investigation of their infections between day 1 and day 10 of therapy. Mortality was significantly higher among the 34.9 % of patients receiving inadequate treatment (48.6 % vs 18.80 %; p < 0.001). Only 32.5 % of combination regimens comprised a broad-spectrum Gram-negative β-lactam plus an anti-MRSA agent, and many combinations were irrational. Inadequate treatment was frequent and was strongly associated with mortality; moreover, there was delayed microbiological investigation of many infections, precluding appropriate treatment modification and de-escalation. Improvements in these aspects and in antibiotic stewardship are being sought