A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

Abnormal small airways function in children with mild asthma

BACKGROUND Small airways disease is a hallmark in adults with persistent asthma, but little is known about small airways function in children with mild asthma and normal spirometry. We assessed ventilation heterogeneity, a marker of small airways function, with an easy tidal breath single-breath washout (SBW) technique in school-aged children with mild asthma and normal FEV1 and healthy age-matched control subjects. METHODS The primary outcome was the double-tracer gas phase III slope (SDTG), an index of ventilation heterogeneity in acinar airways derived from the tidal double-tracer gas SBW test. The second outcome was the nitrogen phase III slope (SN2), an index of global ventilation heterogeneity derived from the tidal nitrogen SBW test using pure oxygen. Triplicate SBW and spirometry tests were performed in healthy children (n = 35) and children with asthma (n = 31) at baseline and in children with asthma after bronchodilation. RESULTS Acinar (SDTG) but not global (SN2) ventilation heterogeneity was significantly increased in asthma despite normal FEV1. Of the 31 children with asthma, abnormal results were found for SDTG (≤ -2 z scores) in 11; forced expiratory flow, midexpiratory phase (FEF25%-75%) in three; and FEV1 in zero. After bronchodilation, SDTG, SN2, FEF25%-75%, and FEV1 significantly changed (mean [95% CI] change from baseline, 36% [15%-56%], 38% [18%-58%], 17% [9-25%], and 6% [3%-9%], respectively). CONCLUSIONS Abnormal acinar ventilation heterogeneity in one-third of the children suggests that small airways disease may be present despite rare and mild asthma symptoms and normal spirometry. The easy tidal SBW technique has considerable potential as a clinical and research outcome in children with asthma.

Temporal genetic structure and relatedness in the Tufted Duck Aythya fuligula suggests limited kin association in winter

Conspecific aggregation of waterfowl in winter is a common example of animal flocking behaviour, yet patterns of relatedness and temporal substructure in such social groups remain poorly understood even in common species. A previous study based on mark-recapture data showed that Tufted Ducks Aythya fuligula caught on the same day were re-caught together in subsequent winters more often than expected by chance, suggesting stable assortments of ‘socially familiar’ individuals between wintering periods. The genetic relationships within these social groups were not clear. Based on 191 individuals genotyped at 10 microsatellite markers, we investigated the temporal genetic structure and patterns of relatedness among wintering Tufted Ducks at Lake Sempach, Switzerland, in two consecutive winters. We found no evidence of genetic differentiation between temporal groups within or between winters. The average levels of relatedness in temporal groups were low and not higher than expected in random assortments of individuals. However, Mantel tests performed for each sex separately revealed significant negative correlations between the pairwise relatedness coefficients and the number of days between the capture dates of pairs of wintering Tufted Duck in males and females. This pattern suggests the presence of a small number of co-migrating same-sex sibling pairs in wintering flocks of Tufted Ducks. Our findings provide one of the first genetic analyses of a common duck species outside the breeding season and contribute to the understanding of social interactions in long-distance migratory birds.

Northern hemispheric winter warming pattern after tropical volcanic eruptions: Sensitivity to the ozone climatology

An important key for the understanding of the dynamic response to large tropical volcanic eruptions is the warming of the tropical lower stratosphere and the concomitant intensification of the polar vortices. Although this mechanism is reproduced by most general circulation models today, most models still fail in producing an appropriate winter warming pattern in the Northern Hemisphere. In this study ensemble sensitivity experiments were carried out with a coupled atmosphere-ocean model to assess the influence of different ozone climatologies on the atmospheric dynamics and in particular on the northern hemispheric winter warming. The ensemble experiments were perturbed by a single Tambora-like eruption. Larger meridional gradients in the lower stratospheric ozone favor the coupling of zonal wind anomalies between the stratosphere and the troposphere after the eruption. The associated sea level pressure, temperature, and precipitation patterns are more pronounced and the northern hemispheric winter warming is highly significant. Conversely, weaker meridional ozone gradients lead to a weaker response of the winter warming and the associated patterns. The differences in the number of stratosphere-troposphere coupling events between the ensembles experiments indicate a nonlinear response behavior of the dynamics with respect to the ozone and the volcanic forcing.

Are Greenhouse Gas Signals of Northern Hemisphere winter extra-tropical cyclone activity dependent on the identification and tracking algorithm?

For Northern Hemisphere extra-tropical cyclone activity, the dependency of a potential anthropogenic climate change signal on the identification method applied is analysed. This study investigates the impact of the used algorithm on the changing signal, not the robustness of the climate change signal itself. Using one single transient AOGCM simulation as standard input for eleven state-of-the-art identification methods, the patterns of model simulated present day climatologies are found to be close to those computed from re-analysis, independent of the method applied. Although differences in the total number of cyclones identified exist, the climate change signals (IPCC SRES A1B) in the model run considered are largely similar between methods for all cyclones. Taking into account all tracks, decreasing numbers are found in the Mediterranean, the Arctic in the Barents and Greenland Seas, the mid-latitude Pacific and North America. Changing patterns are even more similar, if only the most severe systems are considered: the methods reveal a coherent statistically significant increase in frequency over the eastern North Atlantic and North Pacific. We found that the differences between the methods considered are largely due to the different role of weaker systems in the specific methods.

Effects of ex vivo γ-tocopherol on airway macrophage function in healthy and mild allergic asthmatics

Elevated inflammation and altered immune responses are features found in atopic asthmatic airways. Recent studies indicate γ-tocopherol (GT) supplementation can suppress airway inflammation in allergic asthma. We studied the effects of in vitro GT supplementation on receptor-mediated phagocytosis and expression of cell surface molecules associated with innate and adaptive immunity on sputum-derived macrophages. Cells from nonsmoking healthy (n = 6) and mild house dust mite-sensitive allergic asthmatics (n = 6) were treated ex vivo with GT (300 µM) or saline (control). Phagocytosis of opsonized zymosan A bioparticles (Saccharomyces cerevisiae) and expression of surface molecules associated with innate and adaptive immunity were assessed using flow cytometry. GT caused significantly decreased (p < 0.05) internalization of attached zymosan bioparticles and decreased (p < 0.05) macrophage expression of CD206, CD36 and CD86 in allergic asthmatics but not in controls. Overall, GT caused downregulation of both innate and adaptive immune response elements, and atopic status appears to be an important factor.

Multi-proxy summer and winter precipitation reconstruction for southern Africa over the last 200 years

This study presents the first consolidation of palaeoclimate proxy records from multiple archives to develop statistical rainfall reconstructions for southern Africa covering the last two centuries. State-of-the-art ensemble reconstructions reveal multi-decadal rainfall variability in the summer and winter rainfall zones. A decrease in precipitation amount over time is identified in the summer rainfall zone. No significant change in precipitation amount occurred in the winter rainfall zone, but rainfall variability has increased over time. Generally synchronous rainfall fluctuations between the two zones are identified on decadal scales, with common wet (dry) periods reconstructed around 1890 (1930). A strong relationship between seasonal rainfall and sea surface temperatures (SSTs) in the surrounding oceans is confirmed. Coherence among decadal-scale fluctuations of southern African rainfall, regional SST, SSTs in the Pacific Ocean and rainfall in south-eastern Australia suggest SST-rainfall teleconnections across the southern hemisphere. Temporal breakdowns of the SST-rainfall relationship in the southern African regions and the connection between the two rainfall zones are observed, for example during the 1950s. Our results confirm the complex interplay between large-scale teleconnections, regional SSTs and local effects in modulating multi-decadal southern African rainfall variability over long timescales.

The quasi 16-day wave in mesospheric water vapor during boreal winter 2011/2012

This study investigates the characteristics of the quasi 16-day wave in the mesosphere during boreal winter 2011/2012 using observations of water vapor from ground-based microwave radiometers and satellite data. The ground-based microwave radiometers are located in Seoul (South Korea, 37° N), Bern (Switzerland, 47° N) and Sodankylä (Finland, 67° N). The quasi 16-day wave is observed in the mesosphere at all three locations, while the dominant period increases with latitude from 15 days at Seoul to 20 days at Sodankylä. The observed evolution of the quasi 16-day wave confirms that the wave activity is strongly decreased during a sudden stratospheric warming that occurred in mid-January 2012. Using satellite data from the Microwave Limb Sounder on the Aura satellite, we examine the zonal characteristics of the quasi 16-day wave and conclude that the observed waves above the mid-latitudinal stations Seoul and Bern are eastward-propagating s=−1 planetary waves with periods of 15 to 16 days, while the observed oscillation above the polar station Sodankylä is a standing oscillation with a period of approximately 20 days. The strongest relative wave amplitudes in water vapor during the investigated time period are approximately 15%. The wave activity varies strongly along a latitude circle. The activity of the quasi 16-day wave in mesospheric water vapor during boreal winter 2011/2012 is strongest over Northern Europe, the North Atlantic ocean and North-West Canada. The region of highest wave activity seems to be related to the position of the polar vortex. We conclude that the classic approach to characterize planetary waves zonally averaged along a latitude circle is not sufficient to explain the local observations because of the strong longitudinal dependence of the wave activity.

The response of four winter wheat (Triticum aestivum L.) varieties to field water deficit: leaf anti-oxidative protection and proteolytic activity

Introduction: Drought is one of the most significant factors that limit plant productivity. Oxidative stress is a secondary event in many unfavorable environmental conditions. Intracellular proteases have a role in the metabolism reorganisation and nutrient remobilization under stress. In order to under stand the relative significance of oxidative stress and proteolysis in the yield reduction under drought, four varieties of Triticum aestivum L. with different field drought resistance were examined. Methods: A two-year field experiment was conducted. Analyses were performed on the upper most leaf of control plants and plants under water deficitat the stages most critical for yield reduction under drought (from jointing till milk ripeness). Leaf water deficit and electrolyte leakage, malondyaldehyde level, activities and isoenzymes of superoxide dismutase, catalase and peroxidase, leaf protein content and proteolytic activity were studied. Yield components were analyzed. Results: A general trend of increasing the membrane in stability and accumulation of lipid hydroperoxides was observed with some differences among varieties, especially under drought. The anti-oxidative enzyme activities were progressively enhanced, as well as the azocaseinolytic activities. The leaf protein content decreased under drought at the last phase. Differences among varieties were observed in the parameters under study. They were compared to yield components` reduction under water deprivation.

Executive functions after pediatric mild traumatic brain injury: A prospective short-term longitudinal study

Traumatic brain injuries (TBIs) occur frequently in childhood and entail broad cognitive deficits, particularly in the domain of executive functions (EF). Concerning mild TBI (mTBI), only little empirical evidence is available on acute and postacute performance in EF. Given that EF are linked to school adaptation and achievement, even subtle deficits in performance may affect children's academic careers. The present study assessed performance in the EF components of inhibition, working memory (WM), and switching in children after mTBI. Regarding both acute and postacute consequences, performance trajectories were measured in 13 patients aged between 5 and 10 years and 13 controls who were closely matched in terms of sex, age, and education. Performance in the EF components of inhibition, switching, and WM was assessed in a short-term longitudinal design at 2, 6, and 12 weeks after the mTBI. Results indicate subtle deficits after mTBI, which became apparent in the longitudinal trajectory in the EF components of switching and WM. Compared with controls, children who sustained mTBI displayed an inferior performance enhancement across testing sessions in the first 6 weeks after the injury in switching and WM, resulting in a delayed deficit in the EF component of WM 12 weeks after the injury. Results are interpreted as mTBI-related deficits that become evident in terms of an inability to profit from previous learning opportunities, a finding that is potentially important for children's mastery of their daily lives.

The quasi 16-day wave in mesospheric water vapor during boreal winter 2011/2012

This study investigates the characteristics of the quasi 16-day wave in the mesosphere during boreal winter 2011/2012 using observations of water vapor from ground-based microwave radiometers and satellite data. The ground-based microwave radiometers are located in Seoul (South Korea, 37° N), Bern (Switzerland, 47° N) and Sodankylä (Finland, 67° N). The quasi 16-day wave is observed in the mesosphere at all three locations, while the dominant period increases with latitude from 15 days at Seoul to 20 days at Sodankylä. The observed evolution of the quasi 16-day wave confirms that the wave activity is strongly decreased during a sudden stratospheric warming that occurred in mid-January 2012. Using satellite data from the Microwave Limb Sounder on the Aura satellite, we examine the zonal characteristics of the quasi 16-day wave and conclude that the observed waves above the midlatitudinal stations Seoul and Bern are eastward-propagating s = −1 planetary waves with periods of 15 to 16 days, while the observed oscillation above the polar station Sodankylä is a standing wave with a period of approximately 20 days. The strongest relative wave amplitudes in water vapor during the investigated time period are approximately 15%. The wave activity varies strongly along a latitude circle. The activity of the quasi 16-day wave in mesospheric water vapor during boreal winter 2011/2012 is strongest over northern Europe, the North Atlantic Ocean and northwestern Canada. The region of highest wave activity seems to be related to the position of the polar vortex. We conclude that the classic approach to characterize planetary waves zonally averaged along a latitude circle is not sufficient to explain the local observations because of the strong longitudinal dependence of the wave activity.

A 13,600-year diatom oxygen isotope record from the South Carpathians (Romania): Reflection of winter conditions and possible links with North Atlantic circulation changes

This study provides a continuous lateglacial and Holocene record of diatom silica oxygen isotope changes (delta O-18(DIAT)) in a subalpine lake sediment sequence obtained from the Retezat Mts (Taul dintre Brazi, 1740 m a.s.l.). This through-flow, shallow, high-altitude lake with a surface area of only 0.4 ha has short water residence time and is predominantly fed by snowmelt and rainwater. Its delta O-18(DIAT) record principally reflects the oxygen isotope composition of the winter and spring precipitation, as diatom blooms occur mainly in the spring and early summer. Hence, changes in delta O-18(DIAT) are interpreted as seasonal scale changes: in the amount of winter precipitation. Low oxygen isotope values (27-28.5 parts per thousand) occurred during the lateglacial until 12,300 cal BP, followed by a sharp increase thereafter. In the Holocene delta O-18(DIAT) values ranged from 29 to 31 parts per thousand until 3200 cal BP, followed by generally lower values during the late Holocene (27-30 parts per thousand). Short-term decreases in the isotopic values were found between 10,140-9570, 9000-8500, 7800-7300, 6300-5800, 5500-5000 and at 8015, 4400, 4000 cal BP. After 3200 cal BP a decreasing trend was visible with the lowest values between 3100-2500 and after 2100 cal BP The general trend in the record suggests that contribution of winter precipitation was generally lower between 11,680 and 3200 cal BP, followed by increased contribution during the last millennia. The late Holocene decrease in delta O-18(DIAT) shows good agreement with the speleothem delta O-18, lake level and testate amoebae records from the Carpathian Mountains that also display gradual delta O-18 decrease and lake level/mire water table level rise after 3200 cal BR Strong positive correlation with North Atlantic circulation and solar activity proxies, such as the Austrian and Hungarian speleothem records, furthermore suggested that short-term increases in the isotopic ratios in the early and mid Holocene are likely connectable to high solar activity phases and high frequency of positive North Atlantic Oscillation indexes that may have resulted in decreased winter precipitation in this region.