Mucoviscidose: illustration de la complexité du dépistage génétique. [The example of cystic fibrosis to highlight the complexity of genetic screening].

Différentes organisations et différents pays aboutissent souvent à des conclusions différentes quant à la pertinence d'introduire un test de dépistage génétique dans la population générale. Cet article décrit la complexité du dépistage basé sur des tests génétiques. Utilisant l'exemple de la mucoviscidose - pour laquelle un groupe de travail national est en train d'évaluer la pertinence d'un dépistage génétique - les auteurs relèvent les situaions où les recommandations de dépistage sont parfois basées sur l'émergence de nouvelles technologies (par exemple, test génétique) et d'opinion publique plutôt que sur la base d'évidences. Ils présentent également les enjeux éthiques et économiques du dépistage génétique de la mucoviscidose. [Abstract] Various institutions and countries often reach different conclusions about the utility of introducing a newborn screening test in the general population. This paper highlights the complexity of population screening including genetic tests. Using the example of cystic fibrosis genetic screening, for which a Swiss Working Group for Cystic Fibrosis is currently evaluating the pertinence, we outline that screening recommendations are often based more on expert opinion and emerging new technologies rather than on evidence. We also present some ethical and economic issues related to cystic fibrosis genetic screening.

Anatomical exposure patterns of skin to sunlight: relative contributions of direct, diffuse and reflected ultraviolet radiation

Summary Background  The dose-response between ultraviolet (UV) exposure patterns and skin cancer occurrence is not fully understood. Sun-protection messages often focus on acute exposure, implicitly assuming that direct UV radiation is the key contributor to the overall UV exposure. However, little is known about the relative contribution of the direct, diffuse and reflected radiation components. Objective  To investigate solar UV exposure patterns at different body sites with respect to the relative contribution of the direct, diffuse and reflected radiation. Methods  A three-dimensional numerical model was used to assess exposure doses for various body parts and exposure scenarios of a standing individual (static and dynamic postures). The model was fed with erythemally weighted ground irradiance data for the year 2009 in Payerne, Switzerland. A year-round daily exposure (08:00-17:00 h) without protection was assumed. Results  For most anatomical sites, mean daily doses were high (typically 6·2-14·6 standard erythemal doses) and exceeded the recommended exposure values. Direct exposure was important during specific periods (e.g. midday during summer), but contributed moderately to the annual dose, ranging from 15% to 24% for vertical and horizontal body parts, respectively. Diffuse irradiation explained about 80% of the cumulative annual exposure dose. Acute diffuse exposures were also observed during cloudy summer days. Conclusions  The importance of diffuse UV radiation should not be underestimated when advocating preventive measures. Messages focused on avoiding acute direct exposures may be of limited efficiency to prevent skin cancers associated with chronic exposure.

A programming environment having three levels of complexity for mobile robotics = Entorno de programación con tres niveles de complejidad para robótica móvil

This paper presents a programming environment for supporting learning in STEM, particularly mobile robotic learning. It was designed to maintain progressive learning for people with and without previous knowledge of programming and/or robotics. The environment was multi platform and built with open source tools. Perception, mobility, communication, navigation and collaborative behaviour functionalities can be programmed for different mobile robots. A learner is able to programme robots using different programming languages and editor interfaces: graphic programming interface (basic level), XML-based meta language (intermediate level) or ANSI C language (advanced level). The environment supports programme translation transparently into different languages for learners or explicitly on learners’ demand. Learners can access proposed challenges and learning interfaces by examples. The environment was designed to allow characteristics such as extensibility, adaptive interfaces, persistence and low software/hardware coupling. Functionality tests were performed to prove programming environment specifications. UV BOT mobile robots were used in these tests

Relative Technical Efficiency of European Transportation Systems

Talouden kasvaessa myös tavarankuljetusmäärät kasvavat. Kuljetusjärjestelmät ja niiden sujuva toiminta on erittäin tärkeää taloudellisen kasvun kannalta tällä hetkellä, ja se tulee olemaan yhä tärkeämpää tulevaisuudessa. Tulevaisuudessa tarvitaan kokonaisvaltainen ja selkeästi tehokkaampi kuljetusjärjestelmä, mikäli tulevaisuuden kuljetusvirrat halutaan hoitaa kestävästi. Tässä opinnäytetyössäni tutkin kolmen eurooppalaisen kuljetusjärjestelmän (rautatiet, lentoliikenne ja konttiliikenne meritse) suhteellista teknistä tehokkuutta ja menetelmänä on data envelopment analysis (DEA). Vertailtaessa kuljetusjärjestelmiä löytyi suuria eroja kuljetusmuotojen välille. lentoyhtiöt suoriutuivat huomattavan tasaisesti eli tehokkaiden ja ei-tehokkaiden toimijoiden välillä ei ollut suuria eroja. Rautatiepuolella erot venyivät huomattavan suuriksi niin eri yritysten välillä kuin jopa saman yrityksen sisällä eri vuosina. Pikaisemmassa laivayhtiöiden tarkastelussa erot niiden välillä olivat lähes yhtä pieniä kuin lentoyhtiöiden välillä. Tarkasteltaessa omistajuuden vaikutusta lentoyhtiöiden toiminnassa huomattiin, että yksityisessä omistuksessa olevat yritykset olivat huomattavasti tehokkaampia matkustajien kuljettamisessa. Rahtipuolella merkittäviä eroja ei havaittu. Merkittävät korrelaatiot eri mallien välillä antoivat joitain viitteitä myös kuljetuspoliittiseen päätöksentekoon; investoinnit matkustajienkuljetuksiin raiteilla parantaisivat koko rautatiepuolen teokkuutta, mutta myös samalla lentopuolen matkustajakuljetuksen tehokkuutta.

Relationships of basal metabolic rate, relative testis size and cycle length of spermatogenesis in shrews (Mammalia, Soricidae).

The aim of the present study was to determinate the cycle length of spermatogenesis in three species of shrew, Suncus murinus, Sorex coronatus and Sorex minutus, and to assess the relative influence of variation in basal metabolic rate (BMR) and mating system (level of sperm competition) on the observed rate of spermatogenesis, including data of shrew species studied before (Sorex araneus, Crocidura russula and Neomys fodiens). The dynamics of sperm production were determined by tracing 5-bromodeoxyuridine in the DNA of germ cells. As a continuous scaling of mating systems is not evident, the level of sperm competition was evaluated by the significantly correlated relative testis size (RTS). The cycle durations estimated by linear regression were 14.3 days (RTS 0.3%) in Suncus murinus, 9.0 days (RTS 0.5%) in Sorex coronatus and 8.5 days (RTS 2.8%) in Sorex minutus. In regression and multiple regression analyses including all six studied species of shrew, cycle length was significantly correlated with BMR (r2=0.73) and RTS (r2=0.77). Sperm competition as an ultimate factor obviously leads to a reduction in the time of spermatogenesis in order to increase sperm production. BMR may act in the same way, independently or as a proximate factor, revealed by the covariation, but other factors (related to testes size and thus to mating system) may also be involved.

Measuring the relative effect of factors affecting species distribution model predictions

1. Species distribution models are increasingly used to address conservation questions, so their predictive capacity requires careful evaluation. Previous studies have shown how individual factors used in model construction can affect prediction. Although some factors probably have negligible effects compared to others, their relative effects are largely unknown. 2. We introduce a general "virtual ecologist" framework to study the relative importance of factors involved in the construction of species distribution models. 3. We illustrate the framework by examining the relative importance of five key factors-a missing covariate, spatial autocorrelation due to a dispersal process in presences/absences, sample size, sampling design and modeling technique-in a real study framework based on plants in a mountain landscape at regional scale, and show that, for the parameter values considered here, most of the variation in prediction accuracy is due to sample size and modeling technique. Contrary to repeatedly reported concerns, spatial autocorrelation has only comparatively small effects. 4. This study shows the importance of using a nested statistical framework to evaluate the relative effects of factors that may affect species distribution models.

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A2). The diagnosis of PSACH and MED can be difficult for the nonexpert due to various complications and similarities with other related diseases and often mutation analysis is requested to either confirm or exclude the diagnosis. Since 2003, the European Skeletal Dysplasia Network (ESDN) has used an on-line review system to efficiently diagnose cases referred to the network prior to mutation analysis. In this study, we present the molecular findings in 130 patients referred to ESDN, which includes the identification of novel and recurrent mutations in over 100 patients. Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED.

Coping with Technology: A Study on Economic Methodology and Strategic Management of Technology

There is a broad consensus among economists that technologicalchange has been a major contributor to the productivity growth and, hence, to the growth of the material welfare in western industrialized countries at least over the last century. Paradoxically, this issue has not been the focal point of theoretical economics. At the same time, we have witnessed the rise of the importance of technological issues at the strategic management level of business firms. Interestingly, the research has not accurately responded to this challenge either. The tension between the overwhelming empirical evidence of the importance of technology and its relative omission in the research offers a challenging target for a methodological endeavor. This study deals with the question of how different theories cope with technology and explain technological change. The focusis at the firm level and the analysis concentrates on metatheoretical issues, except for the last two chapters, which examine the problems of strategic management of technology. Here the aim is to build a new evolutionary-based theoreticalframework to analyze innovation processes at the firm level. The study consistsof ten chapters. Chapter 1 poses the research problem and contrasts the two basic approaches, neoclassical and evolutionary, to be analyzed. Chapter 2 introduces the methodological framework which is based on the methodology of isolation. Methodological and ontoogical commitments of the rival approaches are revealed and basic questions concerning their ways of theorizing are elaborated. Chapters 3-6 deal with the so-called substantive isolative criteria. The aim is to examine how different approaches cope with such critical issues as inherent uncertainty and complexity of innovative activities (cognitive isolations, chapter 3), theboundedness of rationality of innovating agents (behavioral isolations, chapter4), the multidimensional nature of technology (chapter 5), and governance costsrelated to technology (chapter 6). Chapters 7 and 8 put all these things together and look at the explanatory structures used by the neoclassical and evolutionary approaches in the light of substantive isolations. The last two cpahters of the study utilize the methodological framework and tools to appraise different economics-based candidates in the context of strategic management of technology. The aim is to analyze how different approaches answer the fundamental question: How can firms gain competitive advantages through innovations and how can the rents appropriated from successful innovations be sustained? The last chapter introduces a new evolutionary-based technology management framework. Also the largely omitted issues of entrepreneurship are examined.

Impacts of upland open drains upon runoff generation: a numerical assessment of catchment-scale impacts

Shallow upland drains, grips, have been hypothesized as responsible for increased downstream flow magnitudes. Observations provide counterfactual evidence, often relating to the difficulty of inferring conclusions from statistical correlation and paired catchment comparisons, and the complexity of designing field experiments to test grip impacts at the catchment scale. Drainage should provide drier antecedent moisture conditions, providing more storage at the start of an event; however, grips have higher flow velocities than overland flow, thus potentially delivering flow more rapidly to the drainage network. We develop and apply a model for assessing the impacts of grips on flow hydrographs. The model was calibrated on the gripped case, and then the gripped case was compared with the intact case by removing all grips. This comparison showed that even given parameter uncertainty, the intact case had significantly higher flood peaks and lower baseflows, mirroring field observations of the hydrological response of intact peat. The simulations suggest that this is because delivery effects may not translate into catchment-scale impacts for three reasons. First, in our case, the proportions of flow path lengths that were hillslope were not changed significantly by gripping. Second, the structure of the grip network as compared with the structure of the drainage basin mitigated against grip-related increases in the concentration of runoff in the drainage network, although it did marginally reduce the mean timing of that concentration at the catchment outlet. Third, the effect of the latter upon downstream flow magnitudes can only be assessed by reference to the peak timing of other tributary basins, emphasizing that drain effects are both relative and scale dependent. However, given the importance of hillslope flow paths, we show that if upland drainage causes significant changes in surface roughness on hillslopes, then critical and important feedbacks may impact upon the speed of hydrological response. Copyright (c) 2012 John Wiley & Sons, Ltd.