Tropical Cyclone ISAAC. USA, August 2012

Tropical Cyclone ISAAC, after causing damage and deaths in Haiti, moved towards the coast of SE Louisiana (USA), where it made two landfalls. After the second landfall, it started moving inland in SE Louisiana, passing W of New Orleans on Aug 29 afternoon/evening (UTC), weakening into a tropical storm, then late on Aug 30 became a tropical depression. Tropical Cyclone ISAAC affected the southern parts of Louisiana, Mississippi and Alabama with heavy rainfall, strong winds and storm surge, causing flooding, power outages, damage to property and, according to media report, killing at least 7 people. Most of this damage has been caused by heavy rains and storm surge. The Joint Research Centre (JRC) followed the event through the information automatically collected and analysed in the Global Disasters Alerts and Coordination System (GDACS). GDACS classification, for TC ISAAC in the USA, was: Green for the wind impact, Orange for rain impact and Red for storm surge impact. On 27 August 2012, 2 days before the landfall, the JRC HyFlux2 storm surge model indicated a possible storm surge in the order of 2.5-3.5m for Aug 29 morning (UTC) in the coastal area E-SE of New Orleans, Louisiana Online observations and NOAA reports confirmed the forecasts. This report analyses and discusses the GDACS automatic impact assessments and compares the JRC HyFlux2 deterministic storm surge forecasts with the probabilistic forecasts provided by NOAA.JRC.G.2-Global security and crisis managemen

Towards an Ontological Foundation of Services Science: The General Service Model

Despite the ubiquity of services, there is still no consensus ontheir exact nature and structure. This consensus, however, isnecessary to unambiguously describe and trade servicesphysically as well as in an Internet of Service. To make someprogress towards a shared conceptualization, we present in thispaper a general service model based on the DOLCE foundationalontology. In our understanding, a service is essentially composedof a service process whose core actions (delivered by a serviceproducer to a service consumer) comply with the exposeddescription of a service provider’s commitment. Each servicebelongs to a larger service system process which obeys legal andpricing constraints. We illustrate the model’s usefulness andrelevance by the means of a continuous example

Tropical Cyclone GIOVANNA. Madagascar, February 2012

JRC has developed GDACS, an early warning system created to alert the humanitarian community about potential disasters which are under development. Tropical cyclones are some of the most damaging events, affecting the coastal population with three dangerous effects: strong wind, heavy rain and storm surge. GDACS includes the analysis of the first and the second effects, and recently also the third effect (storm surge) has been implemented. An impact assessment for all the three alerts are presented in the report. Wind alert level estimated by GDACS was Red, due to the high wind and the high vulnerability of the affected country. The wind impact assessment by BNGRC has confirmed that most of the damage due to Giovanna was caused by strong winds. The region most affected has been Antisanana. The rain impact alert level in GDACS is based on the estimation of the total accumulation of rainfall on land using NOAA eTRaP data. The applicability of the data was considered fine for alert levels at regional level, but not at local level due to spatial uncertainty. The storm surge GDACS alert level is based on the calculations of the JRC code HyFlux2. The accuracy of the estimated storm surge height could not be established because the available tide gauge was malfunctioning. We compared our results with two UNOSAT/UNITAR impact assessment maps of two damaged cities (Brickaville and Vatomadry). These maps gave a clear indication of building damages, as a result of strong winds and storm surge while the JRC calculations showed a storm surge in the order of 1 m. Overall, the GDACS models performed well. Alert levels for all hazard components were consistent with the observed impact. The location and timing of the information could accurately identify the affected provinces. GDACS information is appropriate for near real-time strategic decision making.JRC.G.2-Global security and crisis managemen

Microbial Community Structures of Novel Icelandic Hot Spring Systems Revealed by PhyloChip G3 Analysis

Microbial community profiles of recently formed hot spring systems ranging in temperatures from 57°C to 100°C and pH values from 2 to 4 in Hveragerði (Iceland) were analyzed with PhyloChip G3 technology. In total, 1173 bacterial operational taxonomic units (OTUs) spanning 576 subfamilies and 38 archaeal OTUs covering 32 subfamilies were observed. As expected, the hyperthermophilic (100°C) spring system exhibited both low microbial biomass and diversity when compared to thermophilic (60°C) springs. Ordination analysis revealed distinct bacterial and archaeal diversity in geographically distinct hot springs. Slight variations in temperature (from 57°C to 64°C) within the interconnected pools led to a marked fluctuation in microbial abundance and diversity. Correlation and PERMANOVA tests provided evidence that temperature was the key environmental factor responsible for microbial community dynamics, while pH, H_(2)S, and SO_2 influenced the abundance of specific microbial groups. When archaeal community composition was analyzed, the majority of detected OTUs correlated negatively with temperature, and few correlated positively with pH. Key Words: Microbial diversity—PhyloChip G3—Acidophilic—Thermophilic—Hot springs—Iceland. Astrobiology 14, xxx–xxx

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the TPM2 and TPM3 genes. Included are altogether 93 families: 53 with TPM2 mutations and 40 with TPM3 mutations. Thirty distinct pathogenic variants of TPM2 and 20 of TPM3 have been published or listed in the Leiden Open Variant Database (http://www.dmd.nl/). Most are heterozygous changes associated with autosomal-dominant disease. Patients with TPM2 mutations tended to present with milder symptoms than those with TPM3 mutations, DA being present only in the TPM2 group. Previous studies have shown that five of the mutations in TPM2 and one in TPM3 cause increased Ca2+ sensitivity resulting in a hypercontractile molecular phenotype. Patients with hypercontractile phenotype more often had contractures of the limb joints (18/19) and jaw (6/19) than those with nonhypercontractile ones (2/22 and 1/22), whereas patients with the non-hypercontractile molecular phenotype more often (19/22) had axial contractures than the hypercontractile group (7/19). Our in silico predictions show that most mutations affect tropomyosin–actin association or tropomyosin head-to-tail binding

Coronary collaterals and risk for restenosis after percutaneous coronary interventions: a meta-analysis

<p>Abstract</p> <p>Background</p> <p>The benefit of the coronary collateral circulation (natural bypass network) on survival is well established. However, data derived from smaller studies indicates that coronary collaterals may increase the risk for restenosis after percutaneous coronary interventions. The purpose of this systematic review and meta-analysis of observational studies was to explore the impact of the collateral circulation on the risk for restenosis.</p> <p>Methods</p> <p>We searched the MEDLINE, EMBASE and ISI Web of Science databases (2001 to 15 July 2011). Random effects models were used to calculate summary risk ratios (RR) for restenosis. The primary endpoint was angiographic restenosis > 50%.</p> <p>Results</p> <p>A total of 7 studies enrolling 1,425 subjects were integrated in this analysis. On average across studies, the presence of a good collateralization was predictive for restenosis (risk ratio (RR) 1.40 (95% CI 1.09 to 1.80); <it>P </it>= 0.009). This risk ratio was consistent in the subgroup analyses where collateralization was assessed with intracoronary pressure measurements (RR 1.37 (95% CI 1.03 to 1.83); <it>P </it>= 0.038) versus visual assessment (RR 1.41 (95% CI 1.00 to 1.99); <it>P </it>= 0.049). For the subgroup of patients with stable coronary artery disease (CAD), the RR for restenosis with 'good collaterals' was 1.64 (95% CI 1.14 to 2.35) compared to 'poor collaterals' (<it>P </it>= 0.008). For patients with acute myocardial infarction, however, the RR for restenosis with 'good collateralization' was only 1.23 (95% CI 0.89 to 1.69); <it>P </it>= 0.212.</p> <p>Conclusions</p> <p>The risk of restenosis after percutaneous coronary intervention (PCI) is increased in patients with good coronary collateralization. Assessment of the coronary collateral circulation before PCI may be useful for risk stratification and for the choice of antiproliferative measures (drug-eluting stent instead bare-metal stent, cilostazol).</p

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation in these measures in populations has become a major goal in the field. Results Leveraging DNA methylation and SNP data from more than 40,000 individuals, we identify 137 genome-wide significant loci, of which 113 are novel, from genome-wide association study (GWAS) meta-analyses of four epigenetic clocks and epigenetic surrogate markers for granulocyte proportions and plasminogen activator inhibitor 1 levels, respectively. We find evidence for shared genetic loci associated with the Horvath clock and expression of transcripts encoding genes linked to lipid metabolism and immune function. Notably, these loci are independent of those reported to regulate DNA methylation levels at constituent clock CpGs. A polygenic score for GrimAge acceleration showed strong associations with adiposity-related traits, educational attainment, parental longevity, and C-reactive protein levels. Conclusion This study illuminates the genetic architecture underlying epigenetic aging and its shared genetic contributions with lifestyle factors and longevity.Peer reviewe

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms