Split-hand/split-foot malformation with paternal mutation in the p63 gene

We report the prenatal diagnosis at 16 weeks' gestation of bilateral split-hand/split-foot malformation (SHSFM) with severe lobster claw deformity of hands and feet in a male fetus without associated malformations. A minor manifestation of SHSFM was present in the father with only mild bilateral foot involvement (syndactyly I–II; cleft II–III; left cutaneous syndactyly III–IV). Mutation analysis of the p63 gene on chromosome 3q27 showed a missense mutation 577A→G (predicting amino acid substitution K193E) in the father. This mutation has not been reported so far in SHSFM but resembles the previously reported 580A→G (predicting amino acid substitution K194E) in a family with SHSFM. Copyright © 2001 John Wiley & Sons, Ltd.     

Recent sediment accumulation rates in contrasting lakes in the Carpathians (Romania): impacts of shifts in socio-economic regime

Longer-term environmental studies are increasingly used to better understand contemporary ecosystems conditions and for forecasting their future trajectories. Here, we use radiometric measurements and the characterisation of sediment properties from six mountain and a lowland lake in Central Eastern Europe with the aim to assess temporal and spatial variability in sediment accumulation rates (SARs) in relation to three socio-economic regimes: traditional (1840–1948), socialist (1948–1989) and post-socialist (post-1990). We also set out to determine reference conditions for these lakes i.e. conditions before significant human impact. Our results show a trend of increasing SARs from basal sediments (pre 1840) towards the present at only two sites. This contrasts with findings from Western and Central European lakes where SARs have predominantly increased from 1850 towards the top of cores. We highlight the differential impacts of the traditional, socialist and post-socialist periods on the SARs at these lakes. Lowland and mid-elevations lakes (n = 2) were most markedly impacted by the socialist period of land use regime; lakes from the southern Carpathians (n = 2) were more impacted in the traditional period (transhumance pastoral activities), whereas those from the north (n = 3) in the socialist and post-socialist periods (summer pastoralism). Results from our study show a continuous anthropogenic impact during the entire period considered, even in remote mountain areas. This suggests that a temporal frame of 100–150 years is too short to meaningfully register the reference conditions of these lakes. Furthermore, a predominantly natural state may not have existed for centuries in this region.     

Mechanistic insights into the specificity of human cytosolic sulfotransferase 2A1 (hSULT2A1) for hydroxylated polychlorinated biphenyls through the use of fluoro-tagged probes

Determining the relationships between the structures of substrates and inhibitors and their interactions with drug-metabolizing enzymes is of prime importance in predicting the toxic potential of new and legacy xenobiotics. Traditionally, quantitative structure activity relationship (QSAR) studies are performed with many distinct compounds. Based on the chemical properties of the tested compounds, complex relationships can be established so that models can be developed to predict toxicity of novel compounds. In this study, the use of fluorinated analogues as supplemental QSAR compounds was investigated. Substituting fluorine induces changes in electronic and steric properties of the substrate without substantially changing the chemical backbone of the substrate. In vitro assays were performed using purified human cytosolic sulfotransferase hSULT2A1 as a model enzyme. A mono-hydroxylated polychlorinated biphenyl (4-OH PCB 14) and its four possible mono-fluoro analogues were used as test compounds. Remarkable similarities were found between this approach and previously published QSAR studies for hSULT2A1. Both studies implicate the importance of dipole moment and dihedral angle as being important to PCB structure in respect to being substrates for hSULT2A1. We conclude that mono-fluorinated analogues of a target substrate can be a useful tool to study the structure activity relationships for enzyme specificity.     

The reproduction of Enchytraeus sp.—technical improvement for the counting of juveniles

Soil-dwelling annelids of the genus Enchytraeus are used in ecotoxicology for testing of chemicals mixed in artificial soil or for testing of wastes and soils of unknown quality. ISO 16387 describes a method for determining the effects of substances or contaminated soils on survival and reproduction of Enchytraeus albidus or of the smaller species Enchytraeus buchholzi or Enchy-traeus crypticus. After the total test duration of 6 (or 4)?weeks, the juveniles hatched in the meantime are counted. There are several possible extraction techniques, which are always followed by counting the juveniles by hand, but none of them seems easy to handle. We proposed a new modification of the worm extraction method using flotation of fixed and stained juveniles followed by taking a photograph. The digital image of the juveniles is evaluated by computer processing. It makes the counting of juveniles much easier and less labor intensive.     

Soil response to a 3-year increase in temperature and nitrogen deposition measured in a mature boreal forest using ion-exchange membranes

The projected increase in atmospheric N deposition and air/soil temperature will likely affect soil nutrient dynamics in boreal ecosystems. The potential effects of these changes on soil ion fluxes were studied in a mature balsam fir stand (Abies balsamea [L.] Mill) in Quebec, Canada that was subjected to 3 years of experimentally increased soil temperature (+4 °C) and increased inorganic N concentration in artificial precipitation (three times the current N concentrations using NH₄NO₃). Soil element fluxes (NO₃, NH₄, PO₄, K, Ca, Mg, SO₄, Al, and Fe) in the organic and upper mineral horizons were monitored using buried ion-exchange membranes (PRS? probes). While N additions did not affect soil element fluxes, 3 years of soil warming increased the cumulative fluxes of K, Mg, and SO₄ in the forest floor by 43, 44, and 79 %, respectively, and Mg, SO₄, and Al in the mineral horizon by 29, 66, and 23 %, respectively. We attribute these changes to increased rates of soil organic matter decomposition. Significant interactions of the heating treatment with time were observed for most elements although no clear seasonal patterns emerged. The increase in soil K and Mg in heated plots resulted in a significant but small K increase in balsam fir foliage while no change was observed for Mg. A 6–15 % decrease in foliar Ca content with soil warming could be related to the increase in soil-available Al in heated plots, as Al can interfere with the root uptake of Ca.     

Circumpolar status of Arctic ptarmigan: Population dynamics and trends

Rock ptarmigan (Lagopus muta) and willow ptarmigan (L. lagopus) are Arctic birds with a circumpolar distribution but there is limited knowledge about their status and trends across their circumpolar distribution. Here, we compiled information from 90 ptarmigan study sites from 7 Arctic countries, where almost half of the sites are still monitored. Rock ptarmigan showed an overall negative trend on Iceland and Greenland, while Svalbard and Newfoundland had positive trends, and no significant trends in Alaska. For willow ptarmigan, there was a negative trend in mid-Sweden and eastern Russia, while northern Fennoscandia, North America and Newfoundland had no significant trends. Both species displayed some periods with population cycles (short 3–6 years and long 9–12 years), but cyclicity changed through time for both species. We propose that simple, cost-efficient systematic surveys that capture the main feature of ptarmigan population dynamics can form the basis for citizen science efforts in order to fill knowledge gaps for the many regions that lack systematic ptarmigan monitoring programs.

     

Urinary stones as a novel matrix for human biomonitoring of toxic and essential elements

Monitoring of body burden of toxic elements is usually based on analysis of concentration of particular elements in blood, urine and/or hair. Analysis of these matrices, however, predominantly reflects short- or medium-term exposure to trace elements or pollutants. In this work, urinary stones were investigated as a matrix for monitoring long-term exposure to toxic and essential elements. A total of 431 samples of urinary calculi were subjected to mineralogical and elemental analysis by infrared spectroscopy and inductively coupled plasma mass spectrometry. The effect of mineralogical composition of the stones and other parameters such as sex, age and geographical location on contents of trace and minor elements is presented. Our results demonstrate the applicability of such approach and confirm that the analysis of urinary calculi can be helpful in providing complementary information on human exposure to trace metals and their excretion. Analysis of whewellite stones (calcium oxalate monohydrate) with content of phosphorus <0.6 % has been proved to be a promising tool for biomonitoring of trace and minor elements.