Correlation of CAG repeat length between the maternal and paternal allele of the Huntingtin gene: evidence for assortative mating

Triplet repeats contribute to normal variation in behavioral traits and when expanded, cause brain disorders. While Huntington's Disease is known to be caused by a CAG triplet repeat in the gene Huntingtin, the effect of CAG repeats on brain function below disease threshold has not been studied. The current study shows a significant correlation between the CAG repeat length of the maternal and paternal allele in the Huntingtin gene among healthy subjects, suggesting assortative mating

Progress of the National Air Quality Cooperation Programme (NSL)

Om de luchtkwaliteit in Nederland te verbeteren is het Nationaal Samenwerkingsprogramma Luchtkwaliteit (NSL) opgezet. In dit programma werken de Rijksoverheid en decentrale overheden samen om te zorgen dat Nederland overal tijdig aan de grenswaarden voor fijnstof (2011) en stikstofdioxide (2015) zal voldoen. Om de voortgang te volgen is bij het NSL een monitoringsprogramma opgezet. Centraal onderdeel daarvan is een rekeninstrument waarvoor de overheden de brongegevens aanleveren. De daaruitvolgende rekenresultaten zijn vervolgens door het Bureau Monitoring (samenwerkingsverband RIVM en InfoMil) samengevoegd in voorliggende voortgangsrapportage. De prognoses voor 2011 en 2015 laten zien dat voor een groot deel van Nederland de resultaten onder de Europese grenswaarden voor PM10 (fijnstof) en NO2 liggen. Op een aantal plekken zijn er wel nieuwe of grotere overschrijdingen van de PM10- en NO2-grenswaarden zichtbaar. Bij de fijnstof (PM10) overschrijdingen gaat het hoofdzakelijk om locaties bij veehouderijen en een aantal industriele gebieden. Vooral nabij veehouderijen is op een aantal plekken nog sprake van grote overschrijdingen die lastig voor medio 2011 op te lossen zijn. De huidige prognose voor de concentraties stikstofdioxide in 2015 laat een minder gunstige ontwikkeling zien ten opzichte van wat is berekend in de vaststelling van het NSL. Dit komt voor een belangrijk deel door tegenvallende verkeersemissies wat heeft geleid tot een aantal nieuwe overschrijdingen. De nu in de prognoses berekende concentraties liggen op veel locaties net onder de grenswaarde. Met veel concentraties net onder de grenswaarde neemt het aantal overschrijdingen snel toe bij een tegenvaller in een van de gemaakte aannamen. In combinatie met een grote en deels onbekende onzekerheid in de rekenresultaten vormt dit een risico voor het behalen van de doelstelling van het NSL.The NSL has been put in place to improve air quality in the Netherlands and to ensure that the Netherlands meets the date of compliance with the EU limit values for particulate matter and nitrogen dioxide. Local, regional and national authorities work together within the framework of this programme to ensure that these goals are met. A monitoring programme, centred around a specially designed assessment tool, has been set up to monitor the progress. This tool uses data that the participating authorities are required to provide as part of the annual monitoring cycle. The results of the tool have been bundled by the Bureau Monitoring into this progress report. The prognosis for 2011 and 2015, based on the results obtained using the assessment tool, are that the concentrations of PM10 and NO2 fall below the EU limit values in most parts of the Netherlands. However, exceedances of the limit values do occur at specific locations. For PM10, these exceedances mostly occur close to a number of industrial sites and stock farms. Particularly high exceedances in the vicinity of these stock farms will make it difficult to meet the limit values by mid 2011 at these locations. The prognostications for NO2 show a less favourable decline in NO2 concentrations than was modelled at the establishment of the NSL. This is mostly due to the decline in traffic emissions falling short of expectations, resulting in new exceedances. At many locations, the calculated concentrations in the prognostications fall just under the limit value and, consequently, there will be a large increase in the number of exceedances when one or more of the premises become less favourable. This possibility, together with the large and partially unknown uncertainty in the calculation results, add up to a risk for not meeting the limit values by the date of compliance.VRO

Multiple locus VNTR analysis highlights that geographical clustering and distribution of Dichelobacter nodosus, the causal agent of footrot in sheep, correlates with inter-country movements

Dichelobacter nodosus is a Gram-negative, anaerobic bacterium and the causal agent of footrot in sheep. Multiple locus variable number tandem repeat (VNTR) analysis (MLVA) is a portable technique that involves the identification and enumeration of polymorphic tandem repeats across the genome. The aims of this study were to develop an MLVA scheme for D. nodosus suitable for use as a molecular typing tool, and to apply it to a global collection of isolates. Seventy-seven isolates selected from regions with a long history of footrot (GB, Australia) and regions where footrot has recently been reported (India, Scandinavia), were characterised. From an initial 61 potential VNTR regions, four loci were identified as usable and in combination had the attributes required of a typing method for use in bacterial epidemiology: high discriminatory power (D > 0.95), typeability and reproducibility. Results from the analysis indicate that D. nodosus appears to have evolved via recombinational exchanges and clonal diversification. This has resulted in some clonal complexes that contain isolates from multiple countries and continents; and others that contain isolates from a single geographic location (country or region). The distribution of alleles between countries matches historical accounts of sheep movements, suggesting that the MLVA technique is sufficiently specific and sensitive for an epidemiological investigation of the global distribution of D. nodosus

Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome

Abstract Background Autism and the fragile X syndrome (FXS) are related to each other genetically and symptomatically. A cardinal biological feature of both disorders is abnormalities of cerebral cortical brain volumes. We have previously shown that the monoamine oxidase A (MAOA) promoter polymorphism is associated with cerebral cortical volumes in children with autism, and we now sought to determine whether the association was also present in children with FXS. Methods Participants included 47 2-year-old Caucasian boys with FXS, some of whom also had autism, as well as 34 2-year-old boys with idiopathic autism analyzed in a previous study. The MAOA promoter polymorphism was genotyped and tested for relationships with gray and white matter volumes of the cerebral cortical lobes and cerebro-spinal fluid volume of the lateral ventricles. Results MAOA genotype effects in FXS children were the same as those previously observed in idiopathic autism: the low activity MAOA promoter polymorphism allele was associated with increased gray and white matter volumes in all cerebral lobes. The effect was most pronounced in frontal lobe gray matter and all three white matter regions: frontal gray, F = 4.39, P = 0.04; frontal white, F = 5.71, P = 0.02; temporal white, F = 4.73, P = 0.04; parieto-occipital white, F = 5.00, P = 0.03. Analysis of combined FXS and idiopathic autism samples produced P values for these regions <0.01 and effect sizes of approximately 0.10. Conclusions The MAOA promoter polymorphism is similarly associated with brain structure volumes in both idiopathic autism and FXS. These data illuminate a number of important aspects of autism and FXS heritability: a genetic effect on a core biological trait of illness, the specificity/generalizability of the genetic effect, and the utility of examining individual genetic effects on the background of a single gene disorder such as FXS

Estimating treatment effects for individual patients based on the results of randomised clinical trials

Objectives To predict treatment effects for individual patients based on data from randomised trials, taking rosuvastatin treatment in the primary prevention of cardiovascular disease as an example, and to evaluate the net benefit of making treatment decisions for individual patients based on a predicted absolute treatment effect

How does reviewing the evidence change veterinary surgeons' beliefs regarding the treatment of ovine footrot? A quantitative and qualitative study

Footrot is a widespread, infectious cause of lameness in sheep, with major economic and welfare costs. The aims of this research were: (i) to quantify how veterinary surgeons’ beliefs regarding the efficacy of two treatments for footrot changed following a review of the evidence (ii) to obtain a consensus opinion following group discussions (iii) to capture complementary qualitative data to place their beliefs within a broader clinical context. Grounded in a Bayesian statistical framework, probabilistic elicitation (roulette method) was used to quantify the beliefs of eleven veterinary surgeons during two one-day workshops. There was considerable heterogeneity in veterinary surgeons’ beliefs before they listened to a review of the evidence. After hearing the evidence, seven participants quantifiably changed their beliefs. In particular, two participants who initially believed that foot trimming with topical oxytetracycline was the better treatment, changed to entirely favour systemic and topical oxytetracycline instead. The results suggest that a substantial amount of the variation in beliefs related to differences in veterinary surgeons’ knowledge of the evidence. Although considerable differences in opinion still remained after the evidence review, with several participants having non-overlapping 95% credible intervals, both groups did achieve a consensus opinion. Two key findings from the qualitative data were: (i) veterinary surgeons believed that farmers are unlikely to actively seek advice on lameness, suggesting a proactive veterinary approach is required (ii) more attention could be given to improving the way in which veterinary advice is delivered to farmers. In summary this study has: (i) demonstrated a practical method for probabilistically quantifying how veterinary surgeons’ beliefs change (ii) revealed that the evidence that currently exists is capable of changing veterinary opinion (iii) suggested that improved transfer of research knowledge into veterinary practice is needed (iv) identified some potential obstacles to the implementation of veterinary advice by farmers

The low level of debris disk activity at the time of the Late Heavy Bombardment: a Spitzer study of Praesepe

We present 24 micron photometry of the intermediate-age open cluster Praesepe. We assemble a catalog of 193 probable cluster members that are detected in optical databases, the Two Micron All Sky Survey (2MASS), and at 24 micron, within an area of ~ 2.47 square degrees. Mid-IR excesses indicating debris disks are found for one early-type and for three solar-type stars. Corrections for sampling statistics yield a 24 micron excess fraction (debris disk fraction) of 6.5 +- 4.1% for luminous and 1.9 +- 1.2% for solar-type stars. The incidence of excesses is in agreement with the decay trend of debris disks as a function of age observed for other cluster and field stars. The values also agree with those for older stars, indicating that debris generation in the zones that emit at 24 micron falls to the older 1-10 Gyr field star sample value by roughly 750 Myr. We discuss our results in the context of previous observations of excess fractions for early- and solar-type stars. We show that solar-type stars lose their debris disk 24 micron excesses on a shorter timescale than early-type stars. Simplistic Monte Carlo models suggest that, during the first Gyr of their evolution, up to 15-30% of solar-type stars might undergo an orbital realignment of giant planets such as the one thought to have led to the Late Heavy Bombardment, if the length of the bombardment episode is similar to the one thought to have happened in our Solar System. In the Appendix, we determine the cluster's parameters via boostrap Monte Carlo isochrone fitting, yielding an age of 757 Myr (+- 36 Myr at 1 sigma confidence) and a distance of 179 pc (+- 2 pc at 1 sigma confidence), not allowing for systematic errors.Comment: 22 pages, 14 figures, 9 tables, emulateapj format; Accepted for publication in The Astrophysical Journa