53 research outputs found
Managing for change: March 6, 1989
Bi-weekly newsletter of University Hospital's Change Project, provided to managers at the hospital
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
Purpose Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic variants associated with autosomal dominant inheritance of TAAD. Methods We analyzed exome sequencing data from 35 French TAAD families and performed next-generation sequencing capture panel of genes in 1114 unrelated TAAD patients. Functional effects of pathogenic variants identified were validated in cell, tissue, and mouse models. Results We identified five functional variants inTHSD4of which two heterozygous variants lead to a premature termination codon.THSD4encodes ADAMTSL6 (member of the ADAMTS/L superfamily), a microfibril-associated protein that promotes fibrillin-1 matrix assembly. TheTHSD4variants studied lead to haploinsufficiency or impaired assembly of fibrillin-1 microfibrils.Thsd4(+/-)mice showed progressive dilation of the thoracic aorta. Histologic examination of aortic samples from a patient carrying aTHSD4variant and fromThsd4(+/-)mice, revealed typical medial degeneration and diffuse disruption of extracellular matrix. Conclusion These findings highlight the role of ADAMTSL6 in aortic physiology and TAAD pathogenesis. They will improve TAAD management and help develop new targeted therapies
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Proceedings of the 13th annual conference of INEBRIA
CITATION: Watson, R., et al. 2016. Proceedings of the 13th annual conference of INEBRIA. Addiction Science & Clinical Practice, 11:13, doi:10.1186/s13722-016-0062-9.The original publication is available at https://ascpjournal.biomedcentral.comENGLISH SUMMARY : Meeting abstracts.https://ascpjournal.biomedcentral.com/articles/10.1186/s13722-016-0062-9Publisher's versio
Does land abandonment decrease species richness and abundance of plants and animals in Mediterranean pastures, arable lands and permanent croplands
The original publication is available at http://www.environmentalevidencejournal.org/content/2/1/3Abstract
Background
Obscured by the more prevalent discussion of intensification and expansion of agricultural land, the impacts of the abandonment of many grasslands and croplands of the world in recent decades have received limited attention in the literature. Land abandonment is a common phenomenon in the Mediterranean Basin, a global biodiversity hotspot, but little is known about the impacts of this process on biodiversity. To upscale existing case-study insight to a Pan-Mediterranean level, we plan to perform a systematic review of the effects of land abandonment on plant and animal richness and abundance in pastures, arable lands and permanent crops of the Mediterranean Basin. In particular, we ask (1) which taxonomic groups are most affected by land abandonment; (2) whether different spatial and temporal scales of studies influence species richness and abundance outcomes; (3) whether previous land use and current anthropogenic impacts on abandoned lands determine differences in the number and abundance of species; and (4) whether landscape context modifies the impacts.
Methods
Our review will be based on searching scientific databases as well as the internet for empirical studies on the effects of land abandonment on biodiversity in the Mediterranean Basin. Study selection follows a three-stage process and includes study quality assessment. Extracted data will be synthesized through meta-analysis. Results will be presented in the form of a quantitative (e.g. figures indicating effect sizes, tables summarizing heterogeneity statistics) and narrative synthesis. Additional aspects will be addressed through meta-regression and sub-group analyses.Publishers' Versio
The impact of land abandonment on species richness and abundance in the Mediterranean Basin : a meta-analysis
CITATION: Plieninger, T., Hui, C., Gaertner, M. & Huntsinger, L. 2014. The impact of land abandonment on species richness and abundance in the Mediterranean Basin: a meta-analysis, PLoS ONE, 9(5):e98355, doi:10.1371/journal.pone.0098355.The original publication is available at http://journals.plos.org/plosoneLand abandonment is common in the Mediterranean Basin, a global biodiversity hotspot, but little is known about its impacts on biodiversity. To upscale existing case-study insights to the Pan-Mediterranean level, we conducted a meta-analysis of the effects of land abandonment on plant and animal species richness and abundance in agroforestry, arable land, pastures, and permanent crops of the Mediterranean Basin. In particular, we investigated (1) which taxonomic groups (arthropods, birds, lichen, vascular plants) are more affected by land abandonment; (2) at which spatial and temporal scales the effect of land abandonment on species richness and abundance is pronounced; (3) whether previous land use and current protected area status affect the magnitude of changes in the number and abundance of species; and (4) how prevailing landforms and climate modify the impacts of land abandonment. After identifying 1240 potential studies, 154 cases from 51 studies that offered comparisons of species richness and abundance and had results relevant to our four areas of investigation were selected for meta-analysis. Results are that land abandonment showed slightly increased (effect size â=â0.2109, P<0.0001) plant and animal species richness and abundance overall, though results were heterogeneous, with differences in effect size between taxa, spatial-temporal scales, land uses, landforms, and climate. In conclusion, there is no âone-size-fits-allâ conservation approach that applies to the diverse contexts of land abandonment in the Mediterranean Basin. Instead, conservation policies should strive to increase awareness of this heterogeneity and the potential trade-offs after abandonment. The strong role of factors at the farm and landscape scales that was revealed by the analysis indicates that purposeful management at these scales can have a powerful impact on biodiversity.http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0098355Publisher's versio
Summary of the meta-analysis.
<p>Q â=â Q-test for heterogeneity (including P value); ES â=â effect size point estimate; SE â=â standard error; Z â=â two-tail Z-test; 95%CI Lower â=â lower confidence interval (95%); 95%CI Upper â=â upper confidence interval (95%); N â=â Number of records of each category. Categorical moderators are analyzed using mixed effect models; the last moderator âClimateâ of two continuous variables is assessed by a meta-analytic model. The cursive fonts indicate the specific variables and their Q and P values.</p
Map of ecological regions included in the analysis.
<p>Numbers in brackets specify the number of cases considered per ecological region.</p
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