Ecosystem services accounts: Valuing the actual flow of nature-based recreation from ecosystems to people

Natural capital accounting aims to measure changes in the stock of natural assets (i.e., soil, air, water and all living things) and to integrate the value of ecosystem services into accounting systems that will contribute to better ecosystems management. This study develops ecosystem services accounts at the European Union level, using nature-based recreation as a case study and following the current international accounting framework: System of Environmental-Economic Accounting – Experimental Ecosystem Accounting (SEEA EEA). We adapt and integrate different biophysical and socio-economic models, illustrating the workflow necessary for ecosystem services accounts: from a biophysical assessment of nature-based recreation to an economic valuation and compilation of the accounting tables. The biophysical assessment of nature-based recreation is based on spatially explicit models for assessing different components of ecosystem services: potential, demand and actual flow. Deriving maps of ecosystem service potential and demand is a key step in quantifying the actual flow of the service used, which is determined by the spatial relationship (i.e., proximity in the case of nature-based recreation) between service potential and demand. The nature-based recreation accounts for 2012 show an actual flow of 40 million potential visits to ‘high-quality areas for daily recreation’, with a total value of EUR 50 billion. This constitutes an important contribution of ecosystems to people's lives that has increased by 26% since 2000. Practical examples of ecosystem services accounts, as shown in this study, are required to derive recommendations and further develop the conceptual and methodological framework proposed by the SEEA EEA. This paper highlights the importance of using spatially explicit models for ecosystem services accounts. Mapping the different components of ecosystem services allows proper identification of the drivers of changes in the actual service flow derived from ecosystems, socio-economic systems and/or their spatial relationship. This will contribute to achieving one of the main goals of ecosystem accounts, namely measuring changes in natural capital, but it will also support decision-making that targets the enhancement of ecosystems, their services and the benefits they provide

Genetic testing for cystic hygroma

AbstractCystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials

Genetic testing for coarctation of aorta

Abstract Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials

Genetic testing for atrial septal defect

Abstract Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000 live births. ASD may have autosomal dominant or recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials

Genetic testing for aortic valve stenosis

Abstract Aortic valve stenosis (AVS) is a congenital aortic defect in which the aortic lumen narrows due to thickening or calcification of the aortic valve without obstructing left ventricular outflow. Depending on the site of obstruction, AVS is classified as valvular, sub-valvular or supra-valvular. The prevalence of AVS is about 3% and increases with age. One in eight persons over the age of 75 years has moderate or severe AVS. AVS has autosomal dominant inheritance. It can be associated with mutations in the following genes: NOTCH1, SMAD6, SMAD4, and ELN. This Utility Gene Test was developed on the basis of the analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials, when available

Ecosystem services accounting: Part I - Outdoor recreation and crop pollination

The Knowledge Innovation Project on an Integrated system of Natural Capital and ecosystem services Accounting (KIP INCA) aims to develop the first ecosystem accounts at EU level, following the UN System of Environmental-Economic Accounting- Experimental Ecosystem Accounts (SEEA-EEA). The application of the SEEA-EEA framework is useful to illustrate ecosystem accounts with clear examples and contribute to further develop to methodology and give guidance for Natural Capital Accounting. The aim of this study is to assess and account for two ecosystem services: outdoor recreation and crop pollination. Each service was assessed biophysically within the ESTIMAP toolbox, allowing us to quantify different service components: the service potential that the ecosystems can deliver; the demand for each service; and the actual flow of the service used based on the spatial relationship between the service potential and demand. The results of the biophysical assessment were then translated into monetary units using valuation methods consistent with the System of National Accounts. Valuation methods require the integration of the key variables of the biophysical model to quantify the actual flow. In this way, changes in the value of the service are strictly linked to changes in biophysical assessment, which includes potential, demand and their spatial relationship determining the actual flow. Accounting of outdoor recreation shows that at EU level, forest ecosystems have the highest value for outdoor recreation, although this varies among countries. Households are the users of the service, with Germany being the country with the largest share of population whose demand for daily recreation is covered. As demonstrated, countries with a larger share of population living within 4 km of recreational areas present higher level of life satisfaction. EU accounting shows an overall increase in the use of the service between 2000 and 2012 (26%), mainly due to the enhancement of the recreation potential, and, to a lesser extent, to an increase in the demand (population). These results are useful to support policy decisions related to land planning, aiming at guaranteeing the equitable accessibility to outdoor recreation opportunities (citizen rights): 38% of the population at the EU have limited accessibility to recreational areas (unmet demand). We estimated for 2012 an actual flow of 40 million potential visits to recreational areas per year (daily use), with a total value of 31 billion euro. At this stage, the full accounting cannot be given for crop pollination due to the lack of connection between the available valuation methods and the biophysical model assessing the service flow. In this sense, further research is needed to develop suitable methods to link the valuation technique with the biophysical model. In spite of these limitations, the crop pollination assessment provides useful results for the EU Pollinators Initiative. The work presented in this report highlights the importance of the spatial relationship between ecosystem service potential and demand. The changes in the use of the service quite often cannot be explained solely by changes in the potential and the demand, but also by their spatial relationship. When dealing with ecosystem services the spatial component is a key driver that needs to be integrated within the accounting framework for a consistent assessment. The spatial relationship between potential and demand is different for each service. Crop pollination requires the spatial overlap between potential and demand, whereas proximity is the key spatial feature for outdoor recreation. As shown by the two examples presented here, ecosystem service accounts significantly differ depending on the service being assessed, both conceptually and methodologically. Hence, further examples of ecosystem service accounting are needed to produce accounting tables for a representative number of service. Ultimately, the availability of this information represents a key input for the analysis of synergies and trade-offs between ecosystem services.JRC.D.3-Land Resource

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

Background: Infertility affects about 7% of the general male population. The underlying cause of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of genes involved in human spermatogenesis is over two thousand. Therefore, it is essential to analyze a large number of genes that may be involved in male infertility. This study aimed to test idiopathic male infertile patients negative for a validated panel of “diagnostic” genes, for a wide panel of genes that we have defined as “pre-diagnostic.” Methods: We developed a next-generation sequencing (NGS) gene panel including 65 pre-diagnostic genes that were used in 12 patients who were negative to a diagnostic genetic test for male infertility disorders, including primary spermatogenic failure and central hypogonadism, consisting of 110 genes. Results: After NGS sequencing, variants in pre-diagnostic genes were identified in 10/12 patients who were negative to a diagnostic test for primary spermatogenic failure (n = 9) or central hypogonadism (n = 1) due to mutations of single genes. Two pathogenic variants of DNAH5 and CFTR genes and three uncertain significance variants of DNAI1, DNAH11, and CCDC40 genes were found. Moreover, three variants with high impact were found in AMELY, CATSPER 2, and ADCY10 genes. Conclusion: This study suggests that searching for pre-diagnostic genes may be of relevance to find the cause of infertility in patients with apparently idiopathic primary spermatogenic failure due to mutations of single genes and central hypogonadism

Case report: Exploring under the tip of the iceberg: A case series of “self-limiting” multisystem inflammatory syndrome in children

Multisystem inflammatory syndrome in children (MIS-C) is a serious condition triggered by SARS-COV-2 infection, characterized by persistent fever, multiorgan dysfunction, and increased inflammatory markers. It requires hospitalization and prompt treatment, with nearly 60% of the cases needing intensive care and 2% fatality rate. A wide spectrum of clinical characteristics and therapeutic approaches has been reported in MIS-C. We describe a series of four patients with MIS-C, defined according to the current case definitions, with a self-limiting course and no need for immunomodulatory treatment (“self-limiting MIS-C”). Few data about self-limiting MIS-C are available to date and no information on medium- and long-term outcome of this subset of patients has been reported. Although limited in size, our experience provides new insights into the MIS-C syndrome, highlighting an underestimated aspect of the disease that may have significant therapeutic implications

Transcriptomic Analysis of Single Isolated Myofibers Identifies miR-27a-3p and miR-142-3p as Regulators of Metabolism in Skeletal Muscle

Summary: Skeletal muscle is composed of different myofiber types that preferentially use glucose or lipids for ATP production. How fuel preference is regulated in these post-mitotic cells is largely unknown, making this issue a key question in the fields of muscle and whole-body metabolism. Here, we show that microRNAs (miRNAs) play a role in defining myofiber metabolic profiles. mRNA and miRNA signatures of all myofiber types obtained at the single-cell level unveiled fiber-specific regulatory networks and identified two master miRNAs that coordinately control myofiber fuel preference and mitochondrial morphology. Our work provides a complete and integrated mouse myofiber type-specific catalog of gene and miRNA expression and establishes miR-27a-3p and miR-142-3p as regulators of lipid use in skeletal muscle. : Chemello et al. characterize coding mRNAs and non-coding microRNAs expressed by myofibers of hindlimb mouse muscles, identifying complex interactions between these molecules that modulate mitochondrial functions and muscle metabolism. They demonstrate that specific short non-coding RNAs influence the contractile fiber composition of skeletal muscles by modulating muscle metabolism. Keywords: single myofiber, skeletal muscle metabolism, mitochondria, miRNAs, lipid

Mapping and Assessment of Ecosystems and their Services: An EU ecosystem assessment

This report presents an ecosystem assessment covering the total land area of the EU as well as the EU marine regions. The assessment is carried out by Joint Research Centre, European Environment Agency, DG Environment, and the European Topic Centres on Biological Diversity and on Urban, Land and Soil Systems. This report constitutes a knowledge base which can support the evaluation of the 2020 biodiversity targets. It also provides a data foundation for future assessments and policy developments, in particular with respect to the ecosystem restoration agenda for the next decade (2020-2030). The report presents an analysis of the pressures and condition of terrestrial, freshwater and marine ecosystems using a single, comparable methodology based on European data on trends of pressures and condition relative to the policy baseline 2010. The following main conclusions are drawn: - Pressures on ecosystems exhibit different trends. - Land take, atmospheric emissions of air pollutants and critical loads of nitrogen are decreasing but the absolute values of all these pressures remain too high. - Impacts from climate change on ecosystems are increasing. - Invasive alien species of union concern are observed in all ecosystems, but their impact is particularly high in urban ecosystems and grasslands. - Pressures from overfishing activities and marine pollution are still high. - In the long term, air and freshwater quality is improving. - In forests and agroecosystems, which represent over 80% of the EU territory, there are improvements in structural condition indicators (biomass, deadwood, area under organic farming) relative to the baseline year 2010 but some key bio-indicators such as tree-crown defoliation continue to increase. This indicates that ecosystem condition is not improving. - Species-related indicators show no progress or further declines, particularly in agroecosystems. The analysis of trends in ecosystem services concluded that the current potential of ecosystems to deliver timber, protection against floods, crop pollination, and nature-based recreation is equal to or lower than the baseline value for 2010. At the same time, the demand for these services has significantly increased. A lowered potential in combination with a higher demand risks to further decrease the condition of ecosystems and their contribution to human well-being. Despite the wide coverage of environmental legislation in the EU, there are still large gaps in the legal protection of ecosystems. On land, 76% of the area of terrestrial ecosystems, mainly forests, agroecosystems and urban ecosystems, are excluded from a legal designation under the Bird and Habitat Directives. Freshwater and marine ecosystems are subject to specific protection measures under the Water Framework and Marine Strategy Framework Directives. The condition of ecosystems that are under legal designation is unfavourable. More efforts are needed to bend the curve of biodiversity loss and ecosystem degradation and to put ecosystems on a path to recovery. The progress that is made in certain areas such as pollution reduction, increasing air and water quality, increasing share of organic farming, the expansion of forests, and the efforts to maintain marine fish stocks at sustainable levels show that a persistent implementation of policies can be effective. These successes should encourage us to act now and to put forward an ambitious plan for the restoration of Europe’s ecosystems.JRC.D.3-Land Resource