Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

Fetal skin biopsy at 20 weeks' gestation in a woman at risk for a child with the lethal skin-blistering disorder junctional epidermolysis bullosa (Herlitz) confirmed an affected fetus. Genomic DNA from the aborted fetus was examined for mutations in laminin 5, a macromolecule involved in adhesion at the dermal-epidermal junction, and a candidate protein in this condition. Polymerase chain reaction (PCR) amplification of exon 10 and parts of the flanking introns of the gene encoding the β3 chain of laminin 5 (LAMB3) and subsequent analysis by agarose gel electrophoresis showed a more slowly migrating band in the affected fetus compared with the normal control. Nucleotide sequencing of the abnormal PCR product revealed a homozygous 77 bp duplication within the exon, resulting in a premature termination codon 250 bp downstream from the 3′ end of the duplication. Maternal DNA was heterozygous for the mutant and wild-type alleles. These findings illustrate the genetic basis of the skin disease in this case and also offer the prospects of a simple, rapid, and reliable first-trimester DNA-based prenatal, or even preimplantation, diagnostic test for future pregnancies in this family.     

Groundwater dependent ecosystems. Part I: Hydroecological status and trends

Groundwater dependent ecosystems (GDEs) include valuable ecosystems such as springs, wetlands, rivers, lakes and lagoons. The protection of these systems and services they provide is highlighted by international agreements, i.e. Ramsar convention on wetlands, and regional legislation, i.e. the European Water Framework Directive. Groundwater provides water, nutrients and a relatively stable temperature. However, the role of groundwater in surface ecosystems is not fully understood. The ecosystem can depend on groundwater directly or indirectly, and the reliance can be continuous, seasonal or occasional. This has implications for the vulnerability of ecosystems, as some may be easily affected by external pressure. Conceptual models and quantitative assessments of how groundwater interacts with the environment are needed. GDEs are also threatened by different land use activities and climate change. Hence, we need to understand how GDEs are affected by changes in groundwater quantity and quality, as severe groundwater changes have been observed in many regions. This study examines key aspects of GDEs (hydrogeology, geochemistry and biodiversity) in order to improve conceptual understanding of the role of groundwater in such ecosystems. The status and baseline of different types of GDEs are discussed, with particular emphasis on past evidence of environmental change and potential thresholds and threats in GDEs in various parts of Europe with different land use, climate and geology.     

Groundwater dependent ecosystems. Part II. Ecosystem services and management in Europe under risk of climate change and land use intensification

Groundwater in sufficient amounts and of suitable quality is essential for potable water supplies, crop irrigation and healthy habitats for plant and animal biocenoses. The groundwater resource is currently under severe pressure from land use and pollution and there is evidence of dramatic changes in aquifer resources in Europe and elsewhere, despite numerous policy measures on sustainable use and protection of groundwater. Little is known about how such changes affect groundwater dependent ecosystems (GDEs), which include various aquatic and terrestrial ecosystems above ground and inside the aquifer. Future management must take this uncertainty into account. This paper focuses on multiple aspects of groundwater science, policy and sustainable management. Examples of current management methods and practices are presented for selected aquifers in Europe and an assessment is made of the effectiveness of existing policies such as the European Water Framework Directive and the Habitat Directive in practice and of how groundwaters and GDEs are managed in various conditions. The paper highlights a number of issues that should be considered in an integrated and holistic approach to future management of groundwater and its dependent ecosystems.     

Complementary effect of natural and sexual selection against immigrants maintains differentiation between locally adapted fish

Adaptation to ecologically heterogeneous environments can drive speciation. But what mechanisms maintain reproductive isolation among locally adapted populations? Using poeciliid fishes in a system with naturally occurring toxic hydrogen sulfide, we show that (a) fish from non-sulfidic sites (Poecilia mexicana) show high mortality (95 %) after 24 h when exposed to the toxicant, while locally adapted fish from sulfidic sites (Poecilia sulphuraria) experience low mortality (13 %) when transferred to non-sulfidic water. (b) Mate choice tests revealed that P. mexicana females exhibit a preference for conspecific males in non-sulfidic water, but not in sulfidic water, whereas P. sulphuraria females never showed a preference. Increased costs of mate choice in sulfidic, hypoxic water, and the lack of selection for reinforcement due to the low survival of P. mexicana may explain the absence of a preference in P. sulphuraria females. Taken together, our study may be the first to demonstrate independent—but complementary—effects of natural and sexual selection against immigrants maintaining differentiation between locally adapted fish populations.     

The evolution of agrarian practices and its effects on the structure of enclosure landscapes in the Alt Empordà (Catalonia,Spain), 1957–2001

During the last 50 years, mechanisation of the rural environment, and, more recently, the Common Agricultural Policy have led to profound changes in agrarian landscapes throughout Europe, and in particular in the rich and diverse Mediterranean landscapes (Meeus et al., 1990). In the north-east of the Iberian Peninsula, a small area of hedgerow landscape persists as a remnant of what was once an important centre for livestock production. This paper presents the results of a study carried out in this area with the aim of clarifying the relationship between the structural change of this hedgerow landscape and the evolution of farming practices developed by its owners and workers. It also considers these farmers’ perceptions of their pastures, of their farms and of the region. Up to 61 statistically significant relationships were found between the physical landscape characteristic variables and the socio-economical variables. Results depict a hedgerow landscape determined by the combination of two management models. Here, and contrary to conclusions reported in similar literature, traditional pasture activity leads to a weaker hedgerow network than a farming model based on crop cultivation. Management guidance required to move from the current situation towards a hedgerow landscape supporting both biodiversity and agrarian activity is discussed.     

Seed and establishment limitation contribute to long-term native forb declines in California grasslands

The effects of exotic species invasions on biodiversity vary with spatial scale, and documentation of local-scale changes in biodiversity following invasion is generally lacking. Coupling long-term observations of local community dynamics with experiments to determine the role played by exotic species in recruitment limitation of native species would inform both our understanding of exotic impacts on natives at local scales and regional-scale management efforts to promote native persistence. We used field experimentation to quantify propagule and establishment limitation in a suite of native annual forbs in a California reserve, and compared these findings to species abundance trends within the same sites over the past 48 years. Observations at 11 paired sites (inside and outside the reserve) indicated that exotic annual plants have continued to increase in abundance over the past 48 years. This trend suggests the system has not reached equilibrium > 250 years after exotic species began to spread, and 70 years after livestock grazing ceased within the reserve. Long-term monitoring observations also indicated that six native annual forb species went extinct from more local populations than were colonized. To determine the potential role of exotic species in these native plant declines, we added seed of these species into plots adjacent to monitoring sites where plant litter and live grass competition were removed. Experimental results suggest both propagule and establishment limitation have contributed to local declines observed for these native forbs. Recruitment was highest at sites that had current or historical occurrences of the seeded species, and in plots where litter was removed. Grazing history (i.e., location within or outside the reserve) interacted with exotic competition removal, such that removal of live grass competition increased recruitment in more recently grazed sites. Abundance of forbs was positively related to recruitment, while abundance of exotic forbs was negatively related. Thus, exotic competition is likely only one factor contributing to local declines of native species in invaded ecosystems, with a combination of propagule limitation, site quality, and land use history also playing important and interactive roles in native plant recruitment.     

哥伦比亚的环境管理志愿举措:全国工业协会(ANDI)的参与

1990年代哥伦比亚采取了一批保护环境的举措.这些最初表现为涉及若干团体(尤其工业团体)的独立志愿运动,由全国工业协会(ANDI)、哥伦比亚塑料工业协会(Acoplastico)和哥伦比亚安全理事会(CCS)协调.这些团体支持国际环境管理发展,尤其<责任关怀计划>.自1994-1995年以来,在当局愈来愈积极--但仍有待完善--的参与支持下,签订了许多协调协议.尽管尚有不足之处,但哥伦比亚迄今为止所取得的进展依然不失为可持续发展道路上一个可以效仿的范例.     

Comment on “Use of local tidal records to identify relative sea level change: accuracy and error for decision makers” by Powell VA, McGlashan DJ, Duck RW (2012) J Coast Conserv

In this Comment we refer to our strong reservations concerning the paper by Powell et al. J Coast Conserv, (2012) recently published on the Online First web site of the Journal of Coastal Conservation. The paper makes a number of comments on data obtained from the Permanent Service for Mean Sea Level (PSMSL) and British Oceanographic Data Centre (BODC) which are incorrect or misleading. In addition, some of their comments on sea-level science in general need to be challenged and corrected.     

Linking desorption kinetics to phenanthrene biodegradation in soil

The desorption of polycyclic aromatic hydrocarbons (PAHs) often exhibits a biphasic profile similar to that observed for biodegradation whereby an initial rapid phase of degradation or desorption is followed by a phase of much slower transformation or release. Most investigations to-date have utilised a polymeric sorbent, such as Tenax, to characterise desorption, which is methodologically unsuitable for the analysis of soil. In this study, desorption kinetics of ¹⁴C-phenanthrene were measured by consecutive extraction using aqueous solutions of hydroxypropyl-β-cyclodextrin (HPCD). The data indicate that the fraction extracted after 24 h generally approximated the linearly sorbed, rapidly desorbing fraction (F_rap), calculated using a three-compartment model. A good linear correlation between phenanthrene mineralised and F_rap was observed (r² = 0.89; gradient = 0.85; intercept = 8.20). Hence HPCD extraction (24 h) and first-order three-compartment modelling appear to provide an operationally straightforward tool for estimating mass-transfer limited biodegradation in soil.     

Illicit drugs in Canadian municipal wastewater and estimates of community drug use

In this study of wastewater treatment plants in three Canadian cities, selected illicit drugs, including cocaine and its major metabolite, benzoylecgonine (BE), amphetamine, methamphetamine and ecstasy (i.e. MDMA) were detected in untreated wastewater. Cocaine was the most widely used illicit drug at a median level for the 3 cities of 15.7 doses per day per 1000 people. For the other drugs, the median doses per day per 1000 people were 1.8 for amphetamine, 4.5 for methamphetamine and 0.4 for ecstasy. Methamphetamine use was highest in the largest city and cocaine use was lowest in the smallest city. Removal of the illicit drugs by wastewater treatment was generally >50%, except in a WWTP that uses primary treatment. The community consumption estimate for ecstasy in the present study is far below published estimates of the prevalence of ecstasy use among the Canadian population, which may be due to only occasional use of ecstasy.