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.     

Antibodies Against Hepatitis E Virus (HEV) in European Moose and White-Tailed Deer in Finland

Food and Environmental Virology - The main animal reservoirs of zoonotic hepatitis E virus (HEV) are domestic pigs and wild boars, but HEV also infects cervids. In this study, we estimated the...     

Butterfly effects in mimicry? Combining signal and taste can twist the relationship of Müllerian co-mimics

Müllerian co-mimics are aposematic species that resemble each other; sharing a warning signal is thought to be mutually beneficial for the co-mimics by reducing per capita predation risk. In Batesian mimicry, edible mimics avoid predation by resembling an aposematic model species. The protection of both the model and the mimic is weakened when the mimics are abundant compared to the models. The quasi-Batesian view suggests that defended (Müllerian) co-mimics, when unequal in their defences, could also show a Batesian-like trend of increasing mortality with increasing abundance of a less defended “mimic”. We manipulated frequencies of unequally distasteful artificial co-mimics that were prey for great tits. The co-mimics had different signals (imperfect mimicry) but were equally preferred by the birds when palatable. Unexpectedly, when unpalatable, one of the signals was easier for the birds to learn to avoid. Consequently, during predator learning, the signal design of the prey strongly affected mortality of the co-mimics; there was an interaction between the signal and frequency treatments, but increasing the frequency of a less defended “mimic” did not increase co-mimic mortalities as predicted. In contrast, in a memory test that followed, the effect of signal design disappeared; if the birds had experienced high frequency of “mimics” during learning, co-mimic mortalities did subsequently increase. Since the effect of co-mimic frequencies on mortalities changed depending on the signal design of the prey and predator experience, the results suggest that mimetic relationship may be an unpredictable interplay of several factors in addition to taste and abundance.     

Leachate formation and characteristics from gasification and grate incineration bottom ash under landfill conditions

Characteristics and formation of leachates from waste gasification and grate firing bottom ash were studied using continuous field measurements from 112 m³ lysimeters embedded into landfill body for three years. In addition, the total element concentrations of the fresh ash were analysed and laboratory batch tests were performed to study leachate composition. The three-year continuous flow measurement showed that about one fifth of the leachates were formed, when the flow rate was >200 l/d, covering <3.5% of the study time. After three years, the liquid/solid-ratio for the quenched grate ash was 1 (l/kg (d.m.)) and for the initially dry gasification ash 0.4 (l/kg (d.m.)). The low initial water and residual carbon content of the gasification ash kept the leachate pH at a high level (>13) major part of the study. In the grate ash leachate pH was lower (<8) due to the presence of organic carbon and biodegradation indicated by biological oxygen demand and redox potential measurements. In the gasification ash the high pH probably delayed leaching of major elements such as Ca, therefore, raising the need for a longer after-care period. The high pH also explains the higher leaching of As from the gasification ash compared to the grate ash both in the batch test and under landfill conditions.     

Toxicity of waste gasification bottom ash leachate

Toxicity of waste gasification bottom ash leachate from landfill lysimeters (112 m(3)) was studied over three years. The leachate of grate incineration bottom ash from a parallel setup was used as reference material. Three aquatic organisms (bioluminescent bacteria, green algae and water flea) were used to study acute toxicity. In addition, an ethoxyresorufin-O-deethylase (EROD) assay was performed with mouse hepatoma cells to indicate the presence of organic contaminants. Concentrations of 14 elements and 15 PAH compounds were determined to characterise leachate. Gasification ash leachate had a high pH (9.2-12.4) and assays with and without pH adjustment to neutral were used. Gasification ash leachate was acutely toxic (EC(50) 0.09-62 vol-%) in all assays except in the algae assay with pH adjustment. The gasification ash toxicity lasted the entire study period and was at maximum after two years of disposal both in water flea (EC(50) 0.09 vol-%) and in algae assays (EC(50) 7.5 vol-%). The grate ash leachate showed decreasing toxicity during the first two years of disposal in water flea and algae assays, which then tapered off. Both in the grate ash and in the gasification ash leachates EROD-activity increased during the first two years of disposal and then tapered off, the highest inductions were observed with the gasification ash leachate. The higher toxicity of the gasification ash leachate was probably related to direct and indirect effects of high pH and to lower levels of TOC and DOC compared to the grate ash leachate. The grate ash leachate toxicity was similar to that previously reported in literature, therefore, confirming that used setup was both comparable and reliable.     

Mental Symptoms and the Use of New Technical Equipment

The aim of this paper was to present how mental symptoms are connected to the use of desktop, portable or minicomputers (communicators and hand-held computers), mobile phones, and background information such as age and gender in the Finnish working-age population. The study was carried out as a cross-sectional study by posting a questionnaire to 15 000 working-age (18-65) Finns. The mental symptoms of 6121 respondents were analysed using the model factors age, gender, the use of computers and the use of mobile phones. In all data, the use of desktop computers was related to mental symptoms. However, the results of our data are not highly reliable, because the nonresponse rate was over 50%. Nevertheless, it may be essential to take into account in the future that working with computers can increase workers’ mental symptoms, and it is important to observe their mental health.     

Intake fraction distributions for benzene from vehicles in the Helsinki metropolitan area

The intake fraction (iF) gives a measure of the portion of a source's emissions that is inhaled by an exposed population over a defined period of time. This study examines spatial and population-based iF distributions of a known human carcinogen, benzene, from a ubiquitous urban source, local vehicular traffic, in the Helsinki Metropolitan Area using three computational methods. The first method uses the EXPAND model (EXPosure to Air pollution, especially to Nitrogen Dioxide and particulate matter), which incorporates spatial and temporal information on population activity patterns as well as urban-scale and street canyon dispersion models to predict spatial population exposure distributions. The second method uses data from the personal monitoring study EXPOLIS (Air Pollution Exposure Distributions of Adult Urban Populations in Europe) to estimate the intake fractions for individuals in the study. The third method, a one-compartment box model provides estimates within an order-of-magnitude or better for non-reactive agents in an urban area. Population intake fractions are higher using the personal monitoring data method (median iF 30 per million, mean iF 39 per million) compared with the spatial model (annual mean iF 10 per million) and the box model (median iF 4 per million, mean iF 7 per million). In particular, this study presents detailed intake fraction distributions on several different levels (spatial, individual, and generic) for the same urban area.     

Ditch network maintenance in peat-dominated boreal forests: Review and analysis of water quality management options

The objective of this study was to evaluate the potential of different water management options to mitigate sediment and nutrient exports from ditch network maintenance (DNM) areas in boreal peatland forests. Available literature was reviewed, past data reanalyzed, effects of drainage intensity modeled, and major research gaps identified. The results indicate that excess downstream loads may be difficult to prevent. Water protection structures constructed to capture eroded matter are either inefficient (sedimentation ponds) or difficult to apply (wetland buffers). It may be more efficient to decrease erosion, either by limiting peak water velocity (dam structures) or by adjusting ditch depth and spacing to enable satisfactory drainage without exposing the mineral soil below peat. Future research should be directed towards the effects of ditch breaks and adjusted ditch depth and spacing in managing water quality in DNM areas.     

Variability in host plant chemistry: behavioural responses and life-history parameters of the Colorado potato beetle (Leptinotarsa decemlineata)

Summary. Many studies investigating effects of plant chemicals on herbivore performance have reported contradictory results, perhaps because of possible interaction between different chemicals. Also, a herbivore’s performance is not necessarily consistent with its food or oviposition preference. Our aim was to investigate simultaneously antibiosis (larval growth and survival) and antixenosis (oviposition and feeding preferences) responses in herbivore to three plant chemicals, of which one is expected to have positive and two are expected to have negative effects. Antibiosis was measured by correlating the nitrogen and glycoalkaloid levels in host plants to the survival and adult size of Leptinotarsa decemlineata, by rearing larvae on whole plants of three potato varieties. Although host plants differed in their glycoalkaloid levels, survival rate and adult body size did not differ among beetles reared on different potato varieties. This suggests that beetles are quite robust for differences in both foliar α-chaconine and foliar α-solanine content. However, differences in antixenosis were found although they could not be directly predicted from the leaf chemistry. Females preferred to lay their eggs on the variety with high α-solanine content (Nevsky) towards which males showed a tendency to feeding preference. Overall, our results confirm that beetles are well adapted to the chemical defences of potato plants as potato varieties did not significantly affect beetle performance, but differences in oviposition preference may still result in major differences in the amount of damage inflicted on plants in the fields.     

The Presence of Norovirus and Adenovirus on Environmental Surfaces in Relation to the Hygienic Level in Food Service Operations Associated with a Suspected Gastroenteritis Outbreak

Norovirus (NoV) gastroenteritis outbreaks appear frequently in food service operations (FSOs), such as in restaurants and canteens. In this study the presence of NoV and adenovirus (AdV) genomes was investigated on the surfaces of premises, especially in kitchens, of 30 FSOs where foodborne gastroenteritis outbreaks were suspected. The objective was to establish a possible association between the presence of virus genomes on surfaces and a visual hygienic status of the FSOs. NoV genome was found in 11 and AdV genome in 8 out of 30 FSOs. In total, 291 swabs were taken, of which 8.9% contained NoV and 5.8% AdV genome. The presence of NoV genomes on the surfaces was not found to associate with lower hygiene level of the premises when based on visual inspection; most (7/9) of the FSOs with NoV contamination on surfaces and a completed evaluation form had a good hygiene level (the best category). Restaurants had a significantly lower proportion of NoV-positive swabs compared to other FSOs (canteens, cafeteria, schools etc.) taken together (p = 0.00014). The presence of a designated break room for the workers was found to be significantly more common in AdV-negative kitchens (p = 0.046). Our findings suggest that swabbing is necessary for revealing viral contamination of surfaces and emphasis of hygiene inspections should be on the food handling procedures, and the education of food workers on virus transmission.