Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

Background: Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, thus ignoring the type of disease-causing mutations (dominant or recessive). In this report we present a comprehensive study of the evolutionary history of autosomal disease genes separated by mode of inheritance.Results: We examine differences in protein and coding sequence conservation between dominant and recessive human disease genes. Our analysis shows that disease genes affected by dominant mutations are more conserved than those affected by recessive mutations. This could be a consequence of the fact that recessive mutations remain hidden from selection while heterozygous. Furthermore, we employ functional annotation analysis and investigations into disease severity to support this hypothesis. Conclusion: This study elucidates important differences between dominantly- and recessively-acting disease genes in terms of protein and DNA sequence conservation, paralogy and essentiality. We propose that the division of disease genes by mode of inheritance will enhance both understanding of the disease process and prediction of candidate disease genes in the future.

A knowledge based signal processing approach to tonic identification in indian classical music

In this paper, we describe several techniques for detecting tonic pitch value in Indian classical music. In Indian music, the raga is the basic melodic framework and it is built on the tonic. Tonic detection is therefore fundamental for any melodic analysis in Indian classical music. This workexplores detection of tonic by processing the pitch histograms of Indian classic music. Processing of pitch histograms using group delay functions and its ability to amplify certain traits of Indian music in the pitch histogram, is discussed. Three different strategies to detect tonic, namely, the concert method, the template matching and segmented histogram method are proposed. The concert method exploits the fact that the tonic is constant over a piece/concert.templatematchingmethod and segmented histogrammethodsuse the properties: (i) the tonic is always present in the background, (ii) some notes are less inflected and dominant, to detect the tonic of individual pieces. All the three methods yield good results for Carnatic music (90−100% accuracy), while for Hindustanimusic, the templatemethod works best, provided the v¯adi samv¯adi notes for a given piece are known (85%).

Catheterisation. Indwelling catheters in adults. Urethral and suprapubic. Evidence-based guidelines for best practice in urological health care

The EAUN Guidelines Working Group for indwelling catheters have prepared this guideline document to help nurses assess the evidence-based management of catheter care and to incorporate the guidelines’ recommendations into their clinical practice. These guidelines are not meant to be proscriptive, nor will adherence to these guidelines guarantee a successful outcome in all cases. Ultimately, decisions regarding care must be made on a case-by-case basis by healthcare professionals after consultation with their patients using their clinical judgement, knowledge and expertise.

A wolf in sheep"s clothing: carnivory in dominant sea urchins in the Mediterranean

Arbacia lixula and Paracentrotus lividus are the dominant sea urchins in the Mediterranean sublittoral, where they are key structuring species due to their grazing activity. It has been commonly accepted that competition between both species is minimized by specializing in different algal foods. A. lixula is considered to feed mainly on encrusting coralline algae, while P. lividus prefers fleshy macroalgae. We used stable isotope analysis to test if these species occupy different trophic positions at 3 locations in the western Mediterranean and one in Macaronesia. Our results show unambiguously that A. lixula always occupies a higher trophic level than P. lividus, with a δ15N comparable in some locations to strict carnivores such as Actinia schmidti or Marthasterias glacialis. A temporal monitoring at one locality showed that this signature of a higher trophic level is consistent throughout the year. These results are incompatible with the current belief of an herbivorous diet for A. lixula and suggest that it must be considered an omnivore tending to carnivory in Mediterranean ecosystems, feeding at least partially on sessile animals such as Cirripedia, Hydrozoa or Bryozoa. A parallel analysis of gut contents showed a predominance of vegetal items in both species, although A. lixula consistently had a higher abundance of animal components than P. lividus. Our results challenge the validity of using gut content observations alone for characterizing the trophic behaviour of omnivorous marine invertebrates that feed on a variety of food sources with different digestibility.

What hurts the dominant airlines at hub airports?

This paper estimates a frequency equation to explain the determinants of network airline service levels at their hub airports. Drawing on European data for 2002 - 2013, we find that network airlines reduce frequencies when the share of low - cost airlines increases both on the route and at the hub airport. On the contrary, frequency choices of network airlines are not affected by competition from low - cost airlines operating in nearby secondary airports. We also find some evidence that mergers in Europe may result in a re - organization of the route structure in favor of the hubs of the larger airline.

What hurts the dominant airlines at hub airports?

This paper estimates a frequency equation to explain the determinants of network airline service levels at their hub airports. Drawing on European data for 2002 - 2013, we find that network airlines reduce frequencies when the share of low - cost airlines increases both on the route and at the hub airport. On the contrary, frequency choices of network airlines are not affected by competition from low - cost airlines operating in nearby secondary airports. We also find some evidence that mergers in Europe may result in a re - organization of the route structure in favor of the hubs of the larger airline.

The farthest need the best. Human capital composition and development-specific economic growth

We provide robust and compelling evidence of the marked impact of tertiary education on the economic growth of less developed countries and of its the relatively smaller impact on the growth of developed ones. Our results argue in favor of the accumulation of high skill levels especially in technologically under-developed countries and, contrary to common wisdom, independently of the fact that these economies might initially produce lower-technology goods or perform technology imitation. Our results are robust to the different measures used in proxying human capital and to the adjustments made for cross-country differences in the quality of education. Country-specific institutional quality, as well as other indicators including legal origin, religious fractionalization and openness to trade have been used to control for the robustness of the results. These factors are also shown to speed up technology convergence thereby confirming previous empirical studies. Our estimates tackle problems of endogeneity by adopting a variety of techniques, including instrumental variables -for both panel and cross-section analyses- and the two-step efficient dynamics system GMM.