A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.

Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common variations in genomic architecture. Segmental duplications (SDs) constitute up to 5 per cent of the genome and play an important role in generating additional rearrangements and in disease aetiology. We conducted a genome-wide database search for a form of SD, palindromic segmental duplications (PSDs), which consist of paired, inverted duplications, and which predispose to inversions, duplications and deletions. The survey was complemented by a search for SDs in tandem orientation (TSDs) that can mediate duplications and deletions but not inversions. We found more than 230 distinct loci with higher-order genomic structure that can mediate genomic variation, of these about 180 contained a PSD. A number of these sites were previously identified as harbouring common inversions or as being associated with specific genomic diseases characterised by duplication, deletions or inversions. Most of the regions, however, were previously unidentified; their characterisation should identify further common rearrangements and may indicate localisations for additional genomic disorders. The widespread distribution of complex chromosomal architecture suggests a potentially high degree of plasticity of the human genome and could uncover another level of genetic variation within human populations

Towards a better understanding of the e-health user: comparing USE IT and Requirements study for an Electronic Patient Record.

This paper compares a traditional requirements study with 22 interviews for the design of an electronic patient record (EPR) and a USE IT analysis with 17 interviews trying to understand the end- user of an EPR. Developing, implementing and using information technology in organizations is a complex social activity. It is often characterized by ill-defined problems or vague goals, conflicts and disruptions that result from organizational change. Successfully implementing information systems in healthcare organizations appears to be a difficult task. Information Technology is regarded as an enabler of change in healthcare organizations but (information) technology adoption decisions in healthcare are complex, because of the uncertainty of benefits and the rate of change of technology. (Job) Relevance is recognized as an important determinant for IS success but still does not find its way into a systems design process

Self-assembly and crystallisation of indented colloids at a planar wall

We report experimental and simulation studies of the structure of a monolayer of indented ("lock and key") colloids, on a planar surface. On adding a non-absorbing polymer with prescribed radius and volume fraction, depletion interactions are induced between the colloids, with controlled range and strength. For spherical particles, this leads to crystallisation, but the indented colloids crystallise less easily than spheres, in both simulation and experiment. Nevertheless, simulations show that indented colloids do form plastic (rotator) crystals. We discuss the conditions under which this occurs, and the possibilities of lower-symmetry crystal states. We also comment on the kinetic accessibility of these states.Comment: 8 pages, 8 figure

Transmission of pillar-based photonic crystal waveguides in InP technology

Waveguides based on line defects in pillar photonic crystals have been fabricated in InP/InGaAsP/InP technology. Transmission measurements of different line defects are reported. The results can be explained by comparison with two-dimensional band diagram simulations. The losses increase substantially at mode crossings and in the slow light regime. The agreement with the band diagrams implies a good control on the dimensions of the fabricated features, which is an important step in the actual application of these devices in photonic integrated circuit

Applying a two-stage Bayesian dynamic model to a short lived species, the anchovy in the Aegean Sea (Eastern Mediterranean). Comparison with an Integrated Catch at Age stock assessment model.

Two different stock assessment models were applied to the North Aegean Sea anchovy stock (Eastern Mediterranean Sea): an Integrated Catch at age Analysis and a Bayesian two-stage biomass based model. Commercial catch data over the period 2000-2008 as well as acoustics and Daily Egg Production Method estimates over the period 2003-2008 were used. Both models results were consistent, indicating that anchovy stock is exploited sustainably in relation to an exploitation rate reference point. Further, the stock biomass appears stable or increasing. However, the limitations in age-composition data, potential problems related to misinterpretation of age readings along with the existence of missing values in the survey data seem to favour the two-stage biomass method, which is based on a simplified age structure.

Latent classes of sexual risk and corresponding STI and HIV positivity among MSM attending centres for sexual health in the Netherlands

Objectives: Continuing high STI positivity among men who have sex with men (MSM) attending centres for sexual health (CSH) indicates that high-risk behaviour is ongoing. The objective of this study was to gain a better insight into risk behaviours among MSM attending CSH and to explore STI and HIV positivity by subgroups. Methods: We used national data routinely collected during CSH consultations for this study. From September to December 2017, questions on group sex, substance use and sex with HIV-positive partners were asked at each CSH consultation. We analysed latent classes of client-related factors and sexual risk behaviour among MSM attending CSH in this period. We examined STI positivity and prevalence ratios by latent classes. Results: A total of six classes were identified in order of increasing risk: â € overall low-risk behaviour' (n=2974; 22.0%), â € Western origin and multiple sex partners' (MSP) (n=4182; 30.9%), â € Non-Western origin and MSP' (n=2496; 18.5%), â € living with HIV' (n=827; 6.1%), â € group sex and HIV-positive partners' (n=1798; 13.3%) and â € group sex and chemsex' (n=1239; 9.2%). The any STI positivity ranged from 14.0% in the overall low-risk behaviour class to 35.5% in the group sex and chemsex class. HIV positivity did not differ significantly between classes. The Western origin and MSP class was largest and accounted for the majority of STI and HIV infections. Conclusions: Although STI positivity increased with increased risky behaviours, considerable STI positivity was found in all six latent classes. Comparable HIV positivity between classes indicates risk reduction strategies among subgroups engaged in risky behaviours. The differences in risk behaviour and STI positivity require preventive strategies tailored to each subgroup

Development of fundamental motor skills between 2006 and 2016 in Dutch primary school children

Background: Fundamental Motor Skills (FMS) are important building blocks for children’s sport-participation and lifelong physical activity. In the last decade, several international studies have reported delays in the development of FMS. To get better insight into the Dutch situation and to provide future directions, this study examined the development of FMS in Dutch primary school children.Method: The main goal of this study is to compare FMS of 11–12-year-old Dutch children in 2016 with scores of similarly-aged-children in 2006. In addition, gender, age, BMI were taken into account, to see whether changes in motor performance are related to these child characteristics. FMS-test scores on seven motor competence tests (balance, swing, jump, roll, shoot, throwing and catching, and tennis) from 1939 children in 2016 were set side by side with those of 1648 children in 2006. Temporal changes in motor competence scores were analyzed using regression-analysis.Results: This cross-sectional study shows better results for the children in 2006 compared to similarly-aged-children in 2016. Lower scores were found on six out of seven tested FMS, with the largest declines on the object control skills tennis and throwing and catching. Only vaulting jump skills remained on the same level. Overall, children with a higher BMI scored lower on all tests, except for throwing and catching via the wall. On the balancing, jumping and tennis test, the gap with children with a lower BMI widened over the last decade. Girls showed a lower competence level on rolling, shooting and throwing and catchingcompared to boys. During the last decade, their performance on the tennis test decreased more than for boys. Conclusions: Results of this study are alarming as diminishing motor skills are related to lower sport participation and poorer health outcomes. For the future generation, new interventions are needed to help children reach a sufficient proficiency level in FMS, to prevent or overcome the negative effects of lowered motor skills. Targeting FMS components during physical education and outside of school hours may potentially be a valuable strategy in reverting the lowering FMS levels amongst childre

ACE Inhibition in Anti-Thy1 Glomerulonephritis Limits Proteinuria but Does Not Improve Renal Function and Structural Remodeling

www.karger.com/nne This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 3.0 License (www.karger.com/OA-license), applicable to the online version of the article only. Distribution for non-commercial purposes only.

A solution approach for deriving alternative fuel station infrastructure requirements

When an alternative fuel is introduced, the infrastructure through which that fuel is made available to the market is often underdeveloped. Transportation service providers relying on such infrastructures are unlikely to adopt alternative fuel vehicles as it may impose long detours for refueling. In this paper, we design and apply a new solution approach to derive minimum infrastructure requirements, in terms of the number of alternative fuel stations. The effectiveness of our approach is demonstrated by applying it to the case of introducing liquefied natural gas (LNG) as a transportation fuel in The Netherlands. From this case, we learn that, depending on the driving range of the LNG trucks and the size of area on which those trucks operate, a minimum of 5-12 LNG fuel stations is necessary to render LNG trucks economically and environmentally beneficial