Agenesis of the corpus callosum: What to tell expecting parents?

Agenesis of the corpus callosum (ACC) is one of the most common brain malformations, with an incidence estimated to range from 0.5 to 70 in 10,000 among the general population. Prenatal diagnosis is made via ultrasound; however, fetal MRI is useful to confirm or exclude the presence of associated cerebral abnormalities–mostly cortical malformations–that may affect postnatal prognosis. When no additional central nervous system (CNS) or extra CNS anomalies are identified and no genetic cause is found, an isolated ACC is diagnosed. Overall, in cases of ACC, an underlying genetic cause can be identified in up to 12.5% with chromosomal microarray (CMA) and up to 47% with whole exome sequencing (WES). In cases where ACC is the only anomaly detected, the yield of WES is 30%. Postnatal outcomes are variable and depend on whether the condition is isolated or not. In truly isolated ACC, outcomes range from normal in 65% of cases through mild to severe neurodevelopmental impairments in 35% of cases. An interdisciplinary team of medical experts is key in guiding parents toward informed decision-making in pregnancies complicated by ACC. Considering current and expected advancements in genetic testing and imaging technologies in upcoming years, we herein summarize current recommendations for the management and prenatal counseling of expecting parents of fetuses with ACC. Our review pertains primarily to expecting parents of fetuses with complete ACC.     

Correction to: Identification of structural breaks in the forest product markets: how sensitive are to changes in the Nordic region?

Mitigation and Adaptation Strategies for Global Change - This paper was published on March 2017, Volume 22, Issue 3, 469–483pp, titled “Identification of structural breaks in the forest...     

A review of the contributions of Albert Einstein to Earth Sciences—in commemoration of the World Year of Physics

The World Year of Physics (2005) is an international celebration to commemorate the 100th anniversary of Einstein’s “Annus Mirabilis.” The United Nations has officially declared 2005 as the International Year of Physics. However, the impact of Einstein’s ideas was not restricted to physics. Among numerous other disciplines, Einstein also made significant and specific contributions to Earth Sciences. His geosciences-related letters, comments, and scientific articles are dispersed, not easily accessible, and are poorly known. The present review attempts to integrate them as a tribute to Einstein in commemoration of this centenary. These contributions can be classified into three basic areas: geodynamics, geological (planetary) catastrophism, and fluvial geomorphology. Regarding geodynamics, Einstein essentially supported Hapgood’s very controversial theory called Earth Crust Displacement. With respect to geological (planetary) catastrophism, it is shown how the ideas of Einstein about Velikovsky’s proposals evolved from 1946 to 1955. Finally, in relation to fluvial geodynamics, the review incorporates the elegant work in which Einstein explains the formation of meandering rivers. A general analysis of his contributions is also carried out from today’s perspective. Given the interdisciplinarity and implications of Einstein’s achievements to multiple fields of knowledge, we propose that the year 2005 serve, rather than to confine his universal figure within a specific scientific area, to broaden it for a better appreciation of this brilliant scientist in all of his dimensions.     

Coordinating ecosystem service trade-offs to achieve win–win outcomes: A review of the approaches

Ecosystem service(ES) trade-offs have been broadly recognized and studied over the past decade. However, how to coordinate the relationships among ES trade-offs to achieve win–win outcomes remains a considerable challenge for decision makers. Here, we summarize the current approaches applied to minimize ES trade-offs for win–wins and analyze the trade-offs among different ESs and their drivers. Based on a systematic review of the literature from 2005 to 2018, we identified 170 potentially relevant articles, 47 of which were selected for the review,recording 70 actual or potential trade-offs. Analysis of these case studies showed that trade-off pairs between provisioning services and regulating services/biodiversity accounted for 80% of total pairs. Furthermore, more than half of the ES trade-offs were driven by land use/land cover changes. Harvest and resource demand, natural resource management, and policy instruments were also among the main drivers. Four approaches to coordinate ES trade-offs were identified, including ecosystem, landscape-scale, multi-objective optimization, and policy intervention(and other) approaches. Based on the above, we recommend a rigorous understanding of the roles of different stakeholders, spatial scales of management, trade-off dynamics, and integrated implementation of diverse approaches to coordinate ES trade-offs in order to better achieve win–win outcomes.     

Amphimixis and the individual in evolving populations: does Weismann’s Doctrine apply to all,most or a few organisms?

The German biologist August Weismann (1834–1914) proposed that amphimixis (sexual reproduction) creates variability for natural selection to act upon, and hence he became one of the founders of the Neo-Darwinian theory of biological evolution. He is perhaps best known for what is called “Weismann’s Doctrine” or “Weismann’s Barrier” (i.e. the irreversible separation of somatic and germ cell functionalities early during ontogeny in multicellular organisms). This concept provided an unassailable argument against “soft inheritance” sensu Lamarck and informed subsequent theorists that the only “individual” in the context of evolution is the mature, reproductive organism. Herein, we review representative model organisms whose embryology conforms to Weismann’s Doctrine (e.g. flies and mammals) and those that do not (e.g. freshwater hydroids and plants) based on this survey and the Five Kingdoms of Life scheme; we point out that most species (notably bacteria, fungi, protists and plants) are “non-Weismannian” in ways that make a canonical definition of the “individual” problematic if not impossible. We also review critical life history functional traits that allow us to create a matrix of all theoretically conceivable life cycles (for eukaryotic algae, embryophytes, fungi and animals), which permits us to establish where this scheme Weismann’s Doctrine holds true and where it does not. In addition, we argue that bacteria, the dominant organisms of the biosphere, exist in super-cellular biofilms but rarely as single (planktonic) microbes. Our analysis attempts to show that competition among genomic variants in cell lineages played a critical part in the evolution of multicellularity and life cycle diversity. This feature was largely ignored during the formulation of the synthetic theory of biological evolution and its subsequent elaborations.     

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.     

Alien species: to remove or not to remove? That is the question

Invasive alien species (IAS) are universally known for being a controversial management issue. What makes IAS management a particularly thorny question is that although numerous studies document the negative effects of IAS, the potential benefits of IAS are generally underreported. This may result in wrong assessments on the real socio-economic and environmental impact of IAS. This study aimed to provide new insights to support the decision making of IAS management. In particular, the biased approach to IAS management seems to be a likely consequence of the lack of appropriate metrics able to assess the real IAS impact. A basic aspect of IAS management is to decide whether and when IAS removal is a suitable action. Specifically, this study supported the idea that IAS removal may be considered as a possible solution only after establishing a tipping point relying on economic, cultural and pragmatic evaluations. This analysis should include the identification of the ecosystem services damaged and provided by IAS, the attribution of an economic value to such ecosystem services, and when expressing the interaction between IAS and culture is not possible in monetary terms, then social values and cultural traditions should be incorporated in any management plan. Novel ecosystems are now a fact worldwide that should prompt to be realistic about the extent of efforts required for IAS removal. A significant step towards well-pondered decisions should consider that a change in host communities does not imply necessarily harm, and that the functional roles of a species matter more than its origins.     

RNA interference: from an ancient mechanism to a state of the art therapeutic application?

Now that the sequencing of many genomes has been completed, the basic challenges are finding the genes and predicting their functions. Up until now, a large information gap has existed between the knowledge of genome sequence and our knowledge of protein function. The assessment of gene function may be performed using the tools of reverse genetics, including knock-out mice, antisense oligomers, aptamers, and ribozymes. These approaches have been superseded by RNA interference (RNAi), which exhibits much more potency for the investigation of protein function than the techniques listed above. As already known some years ago, RNAi is based on an ancient anti-viral defense mechanism in lower eukaryotes. It is induced by double-stranded RNA and its processing to 21–23 nt small interfering RNAs (siRNAs), which cause the degradation of homologous endogenous mRNA. The way RNAi works has still to be determined, but it already serves as a first-choice approach to generate loss-of-function phenotypes among a broad variety of eukaryotic species, such as nematodes, flies, plants, fungi and mammals. RNAi also represents an extremely powerful tool, becoming a therapeutic approach to curing infectious diseases originated by viral or parasitic invasion. In this review we present the current view of how RNAi works in different eukaryotic species and its high potential for functional genomics and in rational drug design.     

Juvenile hormone–dopamine systems for the promotion of flight activity in males of the large carpenter bee Xylocopa appendiculata

The reproductive roles of dopamine and dopamine regulation systems are known in social hymenopterans, but the knowledge on the regulation systems in solitary species is still needed. To test the possibility that juvenile hormone (JH) and brain dopamine interact to trigger territorial flight behavior in males of a solitary bee species, the effects on biogenic amines of JH analog treatments and behavioral assays with dopamine injections in males of the large carpenter bee Xylocopa appendiculata were quantified. Brain dopamine levels were significantly higher in methoprene-treated males than in control males 4 days after treatment, but were not significantly different after 7 days. Brain octopamine and serotonin levels did not differ between methoprene-treated and control males at 4 and 7 days after treatment. Injection of dopamine caused significantly higher locomotor activities and a shorter duration for flight initiation in experimental versus control males. These results suggest that brain dopamine can be regulated by JH and enhances flight activities in males. The JH–dopamine system in males of this solitary bee species is similar to that of males of the highly eusocial honeybee Apis mellifera.     

Natural dyes in modern textile dyehouses — how to combine experiences of two centuries to meet the demands of the future?

Plant materials which are available from farming regions in the moderate Austrian climate were investigated to serve as sources for natural dyes in textile dyeing operations. The extraction of the dye components from the plant materials was performed with boiling water without addition of chemicals or solvents. Based upon a rigorous selection of possible plant sources, a selection of natural dyestuffs applicable in a one-bath dyeing step was established. A broad variation in shade and color depth can be achieved by applying mixtures of natural dyestuffs in various combinations of iron- and alum-mordants. More than 60% of tested dyeings achieved acceptable fastness properties.On the basis of the developed natural dyestuff-based dyeing procedures, a comparison was made between the effluents from processes based upon them and those based upon the current ‘state-of-the-art’ techniques utilizing synthetic dyes. The comparison revealed that a lowering of the chemical load released with waste water can be expected by shifting to the plant-based dyes.     

Application of the “Climafor” baseline to determine leakage: the case of Scolel Té

The acceptance of forestry-based project activities to mitigate greenhouse gases emissions has been subjected to a number of methodological questions to be answered, of which the most challenging are baseline establishment and identification of and measuring leakage. Here we pose hypotheses for and quantify leakage of the Scolel Té project in Chiapas, Mexico. In this project small-scale farmers are implementing forestry, agroforestry, and forest conservation activities, with carbon sequestration as one of the goals. The main leakage monitoring domain is defined as the area owned by the participating farmers or communities outside the area where the specific project activities take place. The null-hypothesis (no leakage) is that non-project land owned by the farmer or community will experience the same carbon stock changes as predicted by the regional baseline, specifically developed for the project. First we assessed the most likely causes and sources of leakage that may occur in the project. From this analysis, one type of leakage seems to be important, i.e., activity shifting. Second we estimated the leakage of a sample of participating farmers and communities. Actual land use was then compared with expected land use derived from the baseline. The Plan Vivo of each participant, complemented with readily available tools to identify the main sources and drivers of leakage are used to develop simple leakage assessment procedures, as demonstrated in this paper. Negative leakage was estimated to be negligible in this study. Incorporating these procedures already in the project planning stage will reduce the uncertainties related to the actual carbon mitigation potential of any forestry project.

Is the contribution of bacteria to terrestrial carbon budget greatly underestimated?

Some commonly found species of soil bacteria use low molecular weight organic acids as their sole source of carbon and energy. This study shows that acids such as citrate and oxalate (produced in large amounts by fungi and plants) can rapidly be consumed by these bacteria. Two strains, Ralstonia eutropha and Xanthobacter autotrophicus, were cultured on acetate- and citrate-rich media. The resulting CO₂ and/or HCO₃^- reacted with calcium ions to precipitate two polymorphs of calcium carbonate (CaCO₃), calcite and vaterite, depending on the quantity of slime produced by the strains. This production of primary calcium carbonate crystals by oxalate- and citrate-degrading bacteria from soil organic carbon sources highlights the existence of an important and underestimated potential carbon sink.     

Identification of structural breaks in the forest product markets: how sensitive are to changes in the Nordic region?

Forests play a fundamental role in the global carbon cycle and can be managed to mitigate greenhouse gas emissions and conserve or sequester carbon. Global policy and environmental changes can affect regional consumption of forest products, as well as inter-regional trade of forest goods and services. This study analyzes global and regional change impacts on the production, consumption and trade of forest products in two Nordic countries, Finland and Sweden. Annual data on removal and trade (1964–2012) for roundwood and sawnwood is used to identify structural breaks based on Chow tests. According to the analysis, the time period is divided into two periods: t1 (1964–1980) and t2 (1981–2012). In the first period, breaks occurred in 1975 and 1976 in the Finnish model and no break is found in the Swedish model. In the second period, we identify breaks in 1991 and 1992 for the Finnish model and in 2004, 2005 and 2006 for the Swedish model. Although our findings have broad empirical support, we do not identify any specific incident as a direct cause of the changes in the consumption and trade patterns of the two types of wood in these countries. The models and analysis presented here can serve as methodological tools for policymakers to better understand the effects of structural changes in the production of forest goods and services in the Nordic region and globally.     

Beauty ranking of mammalian species kept in the Prague Zoo: does beauty of animals increase the respondents’ willingness to protect them?

Aesthetic preferences for animals correspond with the species’ presence in the worldwide zoos and influence the conservation priorities. Here, we investigated the relationship between the willingness of respondents to protect mammals and some attributed characteristics such as their aesthetic beauty. Further, several methodological aspects of measuring mammalian beauty were assessed. Animal beauty was associated not only with the respondents’ willingness to protect the species but also with its attributed dangerousness and usefulness. We found that the most preferred animals were carnivores and ungulates, whilst smaller species of rodents and afrosoricids were unpopular. The main characteristics determining that an animal will be ranked as beautiful were complex fur pattern and body shape. We demonstrated that the position of mammalian species along the ‘beauty’ axis is surprisingly stable, no matter the form (illustrations vs photographs), context of stimulus presentation (several number of stimuli per family vs one randomly selected species per family), or the method of beauty evaluation (relative order vs Likert’s scale).     

Does the long-term application of calcium superphosphate lead to an increase of the soil rare earth element contents?

In order to test whether the long-term application of calcium superphosphate leads to an increase of the soil rare earth element contents, superphosphate fertilized soils were sampled and compared with superphosphate-free soils. Spectrophlame inductively coupled argon plasma atomic emission spectrophotometer （ICP-AES） was applied to quantify the rare earth elements （REEs）. The total rare earth element contents in calcium superphosphate from Zhijin County, west part of Guizhou Province, China （produced by the sulphuric acid treatment of the apatites） are about 2.54 mg/g. Between 38 and 189 gREEs/hm^2 per year （available for plants, estimated by 2% citric acid） will be introduced into the soil solution when applying 320 kg superphosphate/hm^2 per year. The long-term application of the latter will increase the REE content by about 18% in the soil surface layer in these areas. A statistically significant increase of the content of the rare earths in some cultivated soils should not be neglected.     

Contribution of industrial and developing countries to the atmospheric CO2 concentrations: — impact of the Kyoto protocol

The UN Framework Convention on Climate Change and the Kyoto protocol made under the Convention, aim at controlling the greenhouse gas emissions and their concentrations in the atmosphere. The contributions of fossil fuel use in industrial and developing countries to the atmospheric CO₂ concentration are calculated using estimates for emission developments and a simple carbon cycle model. The contribution of the industrial countries to the CO₂ concentration increase, above the preindustrial level, is estimated to be about 50 ppm in 1990 if only the emissions from fossil fuels are considered. The contribution from developing countries is about 15 ppm. The contribution from industrial countries would increase by about 20 ppm between 1990 and 2010 if no emission reductions were assumed and by about 15 ppm in the considered rather strict reduction scenario. According to the Kyoto protocol the emissions from industrial countries should be reduced by 5.2% from the 1990 level in about 20 years. This development of the emissions would cause a concentration increase of 18 ppm. The concentration increase due to developing countries between 1990 and 2010 would be about 15 ppm. In order that the present global increase rate of CO₂ concentration 1.5 ppm/a would not be exceeded, steeper reductions than those made in Kyoto should be agreed. Increasing global emissions and slow removal of CO₂ from the atmosphere makes it difficult to reach the ultimate objective of the Climate Convention, the stabilisation of the atmospheric concentration.