Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Wetland loss and substitution by the Section 404 permit program in southern California,USA

To test the effectiveness of the 404 permit program in preventing a net loss of wetland resources, 75 Section 404 projects permitted in the years 1987–1989 and located in a portion of southern California were evaluated. From this group of projects, 80.47 ha of wetlands were affected by Section 404 permits and the Army Corps of Engineers required 111.62 ha of wetland mitigation. To verify the successful completion of each mitigation project, all 75 project sites were visited and evaluated based on the amount of dead vegetation, growth and coverage, and the number of invasive species. Based on the field verification results, the actual amount of completed mitigation area was 77.33 ha, resulting in a net loss of 3.14 ha of wetland resources in the years 1987–1989. By comparing the types of wetlands lost to the types of wetlands mitigated, it is apparent that, in particular, freshwater wetlands are experiencing a disproportionately greater loss of area and that riparian woodland wetlands are most often used in mitigation efforts. The net result of these accumulated actions is an overall substitution of wetland types throughout the region. Results also indicate that, typically, large-scale mitigation projects are more successful compared to smaller projects and that successful compliance efforts are not evenly distributed throughout the region. We recommend that better monitoring, mitigation in-kind, mitigation banking, and planning on a regional or watershed scale could greatly improve the effectiveness of the Section 404 permitting program.     

Investigations on mobility of carbon colloid supported nanoscale zero-valent iron (nZVI) in a column experiment and a laboratory 2D-aquifer test system

Nanoscale zero-valent iron (nZVI) has recently gained great interest in the scientific community as in situ reagent for installation of permeable reactive barriers in aquifer systems, since nZVI is highly reactive with chlorinated compounds and may render them to harmless substances. However, nZVI has a high tendency to agglomerate and sediment; therefore it shows very limited transport ranges. One new approach to overcome the limited transport of nZVI in porous media is using a suited carrier colloid. In this study we tested mobility of a carbon colloid supported nZVI particle “Carbo-Iron Colloids” (CIC) with a mean size of 0.63 μm in a column experiment of 40 cm length and an experiment in a two-dimensional (2D) aquifer test system with dimensions of 110?×?40?×?5 cm. Results show a breakthrough maximum of 82 % of the input concentration in the column experiment and 58 % in the 2D-aquifer test system. Detected residuals in porous media suggest a strong particle deposition in the first centimeters and few depositions in the porous media in the further travel path. Overall, this suggests a high mobility in porous media which might be a significant enhancement compared to bare or polyanionic stabilized nZVI.     

Assessing strategies to mitigate phosphorus leaching from drained clay soils

Assessing mitigation of phosphorus (P) leaching from subsurface drainage systems is challenging due to high spatial and temporal variation in leaching. Mean measured total P leaching from a clayey soil in an eight-year study period (four replicates per treatment) was (kg ha^?1 year^?1): 1.21 from shallow autumn tillage (ShT), 0.84 from unfertilised fallow (UF), 0.81 from conventional autumn ploughing (CT) and 0.57 from structure liming (SL–CT). Treatment was not significant using Richards–Baker flow index or a distance factor as covariate (p = 0.084 and 0.057). A tendency for lower leaching was obtained comparing SL-CT with ShT (p _adjusted = 0.060 and 0.009 respectively). A combination of measures adapted to drainage conditions and clay content in different parts of the field is proposed since P leaching was approximately halved from an adjacent field (4.3 ha) in a three-year post-period compared with a three-year pre-period for structure liming the entire field and drainage system renovation plus structure lime drain backfilling.     

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.

     

Level of environmental threat posed by horticultural trade in Cactaceae

Ornamental horticulture has been identified as an important threat to plant biodiversity and is a major pathway for plant invasions worldwide. In this context, the family Cactaceae is particularly challenging because it is considered the fifth most threatened large taxonomic group in the world; several species are among the most widespread and damaging invasive species; and Cactaceae is one of the most popular horticultural plant groups. Based on the Convention on International Trade in Endangered Species of Wild Flora and Fauna and the 11 largest online auction sites selling cacti, we documented the international cactus trade. To provide an in‐depth look at the dynamics of the industry, we surveyed the businesses involved in the cactus trade in South Africa (a hotspot of cactus trade and invasions). We purchased seeds of every available species and used DNA barcoding to identify species to the genus level. Although <20% of this trade involved threatened species and <3% involved known invasive species, many species were identified by a common name. However, only 0.02% of the globally traded cacti were collected from wild populations. Despite a large commercial network, all South African imports (of which 15% and 1.5% were of species listed as threatened and invasive, respectively) came from the same source. With DNA barcoding, we identified 24% of the species to genus level. Based on our results, we believe that if trade restrictions are placed on the small proportion of cacti that are invasive and there is no major increase in harvesting of native populations, then the commercial trade in cactus poses a negligible environmental threat. However, there are currently no effective methods for easily identifying which cacti are traded, and both the illicit harvesting of cacti from the wild and the informal trade in invasive taxa pose on‐going conservation challenges.     

Hydromorphological and socio-cultural assessment of urban rivers to promote nature-based solutions in Jarabacoa,Dominican Republic

In Latin America and the Caribbean, river restoration projects are increasing, but many lack strategic planning and monitoring. We tested the applicability of a rapid visual social–ecological stream assessment method for restoration planning, complemented by a citizen survey on perceptions and uses of blue and green infrastructure. We applied the method at three urban streams in Jarabacoa (Dominican Republic) to identify and prioritize preferred areas for nature-based solutions. The method provides spatially explicit information for strategic river restoration planning, and its efficiency makes it suitable for use in data-poor contexts. It identifies well-preserved, moderately altered, and critically impaired areas regarding their hydromorphological and socio-cultural conditions, as well as demands on green and blue infrastructure. The transferability of the method can be improved by defining reference states for assessing the hydromorphology of tropical rivers, refining socio-cultural parameters to better address river services and widespread urban challenges, and balancing trade-offs between ecological and social restoration goals.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13280-021-01565-3.     

Metabolomic analysis of the selection response of Drosophila melanogaster to environmental stress: are there links to gene expression and phenotypic traits?

We investigated the global metabolite response to artificial selection for tolerance to stressful conditions such as cold, heat, starvation, and desiccation, and for longevity in Drosophila melanogaster. Our findings were compared to data from other levels of biological organization, including gene expression, physiological traits, and organismal stress tolerance phenotype. Overall, we found that selection for environmental stress tolerance changes the metabolomic ¹H NMR fingerprint largely in a similar manner independent of the trait selected for, indicating that experimental evolution led to a general stress selection response at the metabolomic level. Integrative analyses across data sets showed little similarity when general correlations between selection effects at the level of the metabolome and gene expression were compared. This is likely due to the fact that the changes caused by these selection regimes were rather mild and/or that the dominating determinants for gene expression and metabolite levels were different. However, expression of a number of genes was correlated with the metabolite data. Many of the identified genes were general stress response genes that are down-regulated in response to selection for some of the stresses in this study. Overall, the results illustrate that selection markedly alters the metabolite profile and that the coupling between different levels of biological organization indeed is present though not very strong for stress selection at this level. The results highlight the extreme complexity of environmental stress adaptation and the difficulty of extrapolating and interpreting responses across levels of biological organization.