Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.     

The genome sequence of Bacillus anthracis Ames and comparison to closely related bacteria

Bacillus anthracis is an endospore-forming bacterium that causes inhalational anthrax. Key virulence genes are found on plasmids (extra-chromosomal, circular, double-stranded DNA molecules) pXO1 (ref. 2) and pXO2 (ref. 3). To identify additional genes that might contribute to virulence, we analysed the complete sequence of the chromosome of B. anthracis Ames (about 5.23 megabases). We found several chromosomally encoded proteins that may contribute to pathogenicity--including haemolysins, phospholipases and iron acquisition functions--and identified numerous surface proteins that might be important targets for vaccines and drugs. Almost all these putative chromosomal virulence and surface proteins have homologues in Bacillus cereus, highlighting the similarity of B. anthracis to near-neighbours that are not associated with anthrax. By performing a comparative genome hybridization of 19 B. cereus and Bacillus thuringiensis strains against a B. anthracis DNA microarray, we confirmed the general similarity of chromosomal genes among this group of close relatives. However, we found that the gene sequences of pXO1 and pXO2 were more variable between strains, suggesting plasmid mobility in the group. The complete sequence of B. anthracis is a step towards a better understanding of anthrax pathogenesis.     

HOW ARE PRODUCT-SERVICE COMBINED OFFERS PROVIDED IN GERMANY AND ITALY？ ANALYSIS WITH COMPANY SIZES AND COUNTRIES

A new business concept that offers products and services in a different way of traditional product-sales businesses is getting more attention especially in manufacturing industries. This paper investigates how this new business by means of integration of products and services is achieved in Germany and Italy. In addition, it analyzes the differences according to the company sizes. The results include that this type of business is in many cases motivated by their focus on customers and often consists of physical products and their maintenance. The Italian companies, as opposed to the German ones, often design their physical products specifically for this type of offers. From the analysis based on the size difference, small companies are found to achieve specific design for this type of offers while owning physical products. There do not seem to be any established methods or tools developed to support the development of such offers and within such methods/tools there would be room for more adaptation in form of physical product design.     

A low density of 0.8 g cm(-3) for the Trojan binary asteroid 617 Patroclus

The Trojan population consists of two swarms of asteroids following the same orbit as Jupiter and located at the L4 and L5 stable Lagrange points of the Jupiter-Sun system (leading and following Jupiter by 60 degrees ). The asteroid 617 Patroclus is the only known binary Trojan. The orbit of this double system was hitherto unknown. Here we report that the components, separated by 680 km, move around the system's centre of mass, describing a roughly circular orbit. Using this orbital information, combined with thermal measurements to estimate the size of the components, we derive a very low density of 0.8(- 0.1)+0.2 g cm(-3). The components of 617 Patroclus are therefore very porous or composed mostly of water ice, suggesting that they could have been formed in the outer part of the Solar System.     

Civic Meaningfulness ‘Revisited’: A Final Reply to Honohan and Dekker

This final reply responds to Honohan’s invitation to articulate the Arendtian tone of the key-note paper. It spells out the philosophical intuition that the political life of citizens, at least potentially, is capable of making visible what makes human life worthwhile and fully meaningful, and the philosophical curiosity to see whether traces of this deep political awareness can be retrieved in dialogues with volunteers. In response to Dekker’s critical doubts, this final reply clarifies the central stakes of Claes’s paper. The core argument was not to show that the biographical model of meaningfulness is the prevailing approach of meaning in/of volunteering, but to assess the potentials and limits of the model’s interpretive power. Moreover, the paper argues for an alternative, existential model of meaningfulness. This approach refers to deep experiences of meaning that emerge from the practice of volunteering and that shift into powerful political experiences of hope, and a lived sense of equality.