Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland

Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland.

Proposed minimal standards for the description of genera, species and subspecies of the Pasteurellaceae

Principles and guidelines are presented to ensure a solid scientific standard of papers dealing with the taxonomy of taxa of Pasteurellaceae Pohl 1981. The classification of the Pasteurellaceae is in principle based on a polyphasic approach. DNA sequencing of certain genes is very important for defining the borders of a taxon. However, the characteristics that are common to all members of the taxon and which might be helpful for separating it from related taxa must also be identified. Descriptions have to be based on as many strains as possible (inclusion of at least five strains is highly desirable), representing different sources with respect to geography and ecology, to allow proper characterization both phenotypically and genotypically, to establish the extent of diversity of the cluster to be named. A genus must be monophyletic based on 16S rRNA gene sequence-based phylogenetic analysis. Only in very rare cases is it acceptable that monophyly can not be achieved by 16S rRNA gene sequence comparison. Recently, the monophyly of genera has been confirmed by sequence comparison of housekeeping genes. In principle, a new genus should be recognized by a distinct phenotype, and characters that separate the new genus from its neighbours should be given clearly. Due to the overall importance of accurate classification of species, at least two genotypic methods are needed to show coherence and for separation at the species level. The main criterion for the classification of a novel species is that it forms a monophyletic group based on 16S rRNA gene sequence-based phylogenetic analysis. However, some groups might also include closely related species. In these cases, more sensitive tools for genetic recognition of species should be applied, such as DNA-DNA hybridizations. The comparison of housekeeping gene sequences has recently been used for genotypic definition of species. In order to separate species, phenotypic characters must also be identified to recognize them, and at least two phenotypic differences from existing species should be identified if possible. We recommend the use of the subspecies category only for subgroups associated with disease or similar biological characteristics. At the subspecies level, the genotypic groups must always be nested within the boundaries of an existing species. Phenotypic cohesion must be documented at the subspecies level and separation between subspecies and related species must be fully documented, as well as association with particular disease and host. An overview of methods previously used to characterize isolates of the Pasteurellaceae has been given. Genotypic and phenotypic methods are separated in relation to tests for investigating diversity and cohesion and to separate taxa at the level of genus as well as species and subspecies.

Effect of Pulmonary Hypertension Hemodynamic Presentation on Clinical Outcomes in Patients With Severe Symptomatic Aortic Valve Stenosis Undergoing Transcatheter Aortic Valve Implantation: Insights From the New Proposed Pulmonary Hypertension Classification.

BACKGROUND Pulmonary hypertension (PH) frequently coexists with severe aortic stenosis, and PH severity has been shown to predict outcomes after transcatheter aortic valve implantation (TAVI). The effect of PH hemodynamic presentation on clinical outcomes after TAVI is unknown. METHODS AND RESULTS Of 606 consecutive patients undergoing TAVI, 433 (71.4%) patients with severe aortic stenosis and a preprocedural right heart catheterization were assessed. Patients were dichotomized according to whether PH was present (mean pulmonary artery pressure, ≥25 mm Hg; n=325) or not (n=108). Patients with PH were further dichotomized by left ventricular end-diastolic pressure into postcapillary (left ventricular end-diastolic pressure, >15 mm Hg; n=269) and precapillary groups (left ventricular end-diastolic pressure, ≤15 mm Hg; n=56). Finally, patients with postcapillary PH were divided into isolated (n=220) and combined (n=49) subgroups according to whether the diastolic pressure difference (diastolic pulmonary artery pressure-left ventricular end-diastolic pressure) was normal (<7 mm Hg) or elevated (≥7 mm Hg). Primary end point was mortality at 1 year. PH was present in 325 of 433 (75%) patients and was predominantly postcapillary (n=269/325; 82%). Compared with baseline, systolic pulmonary artery pressure immediately improved after TAVI in patients with postcapillary combined (57.8±14.1 versus 50.4±17.3 mm Hg; P=0.015) but not in those with precapillary (49.0±12.6 versus 51.6±14.3; P=0.36). When compared with no PH, a higher 1-year mortality rate was observed in both precapillary (hazard ratio, 2.30; 95% confidence interval, 1.02-5.22; P=0.046) and combined (hazard ratio, 3.15; 95% confidence interval, 1.43-6.93; P=0.004) but not isolated PH patients (P=0.11). After adjustment, combined PH remained a strong predictor of 1-year mortality after TAVI (hazard ratio, 3.28; P=0.005). CONCLUSIONS Invasive stratification of PH according to hemodynamic presentation predicts acute response to treatment and 1-year mortality after TAVI.

A proposed framework to operationalize ESS for the mitigation of soil threats

Despite various research activities in the last decades across the world, many challenges remain to integrate the concept of ecosystem services (ESS) in decision-making, and a coherent approach to assess and value ESS is still lacking. There are a lot of different – often context-specific – ESS frameworks with their own definitions and understanding of terms. Based on a thorough review, the EU FP7 project RECARE (www.recare-project.eu) suggests an adapted framework for ecosystem services related to soils that can be used for practical application in preventing and remediating degradation of soils in Europe. This lays the foundation for the development and selection of appropriate methods to measure, evaluate, communicate and negotiate the services we obtain from soils with stakeholders in order to improve land management. Similar to many ESS frameworks, the RECARE framework distinguishes between an ecosystem and human well-being part. As the RECARE project is focused on soil threats, this is the starting point on the ecosystem part of the framework. Soil threats affect natural capital, such as soil, water, vegetation, air and animals, and are in turn influenced by those. Within the natural capital, the RECARE framework focuses especially on soil and its properties, classified in inherent and manageable properties. The natural capital then enables and underpins soil processes, while at the same time being affected by those. Soil processes, finally, are the ecosystem’s capacity to provide services, thus they support the provision of soil functions and ESS. ESS may be utilized to produce benefits for individuals and human society. Those benefits are explicitly or implicitly valued by individuals and human society. The values placed on those benefits influence policy and decision-making and thus lead to a societal response. Individual (e.g. farmers’) and societal decision making and policy determine land management and other (human) driving forces, which in turn affect soil threats and natural capital. In order to improve ESS with Sustainable Land Management (SLM) – i.e. measures aimed to prevent or remediate soil threats, the services identified in the framework need to be “manageable” (modifiable) for the stakeholders. To this end, effects of soil threats and prevention / remediation measures are captured by key soil properties as well as through bio-physical (e.g. reduced soil loss), socio-economic (e.g. reduced workload) and socio-cultural (e.g. aesthetics) impact indicators. In order to use such indicators in RECARE, it should be possible to associate the changes in soil processes to impacts of prevention / remediation measures (SLM). This requires the indicators to be sensitive enough to small changes, but still sufficiently robust to provide evidence of the change and attribute it to SLM.

Implications of proposed fibromyalgia criteria across other functional pain syndromes

OBJECTIVES In 2010, the American College of Rheumatology (ACR) proposed new criteria for the diagnosis of fibromyalgia (FM) in the context of objections to components of the criteria of 1990. The new criteria consider the Widespread Pain Index (WPI) and the Symptom Severity Score (SSS). This study evaluated the implications of the new diagnostic criteria for FM across other functional pain syndromes. METHOD A cohort of 300 consecutive in-patients with functional pain syndromes underwent a diagnostic screen according to the ACR 2010 criteria. Additionally, systematic pain assessment including algometric and psychometric data was carried out. RESULTS Twenty-five patients (8.3%) had been diagnosed with FM according to the ACR 1990 criteria. Twenty-one of them (84%) also met the new ACR 2010 criteria. In total, 130 patients (43%) fulfilled the new ACR 2010 criteria. A comparison of new vs. old cases showed a high degree of conformity in most of the pain characteristics. The new FM cases, however, revealed a pronounced heterogeneity in the anatomical pain locations, including several types of localized pain syndromes. Furthermore, patients fulfilling the ACR 2010 FM criteria differed from those with other functional pain syndromes; they had increased pain sensitivity scores and increased psychometric values for depression, anxiety, and psychological distress (p<0.01). CONCLUSIONS FM according to the ACR 2010 criteria describes the 'severe half' of the spectrum of functional pain syndromes. By dropping the requirement of 'generalized pain', these criteria result in a blurring of the distinction between FM and more localized functional pain syndromes.

Operationalizing ecosystem services for the mitigation of soil threats: A proposed framework

Despite numerous research efforts over the last decades, integrating the concept of ecosystem servicesinto land management decision-making continues to pose considerable challenges. Researchers havedeveloped many different frameworks to operationalize the concept, but these are often specific to acertain issue and each has their own definitions and understandings of particular terms. Based on acomprehensive review of the current scientific debate, the EU FP7 project RECARE proposes an adaptedframework for soil-related ecosystem services that is suited for practical application in the preventionand remediation of soil degradation across Europe. We have adapted existing frameworks by integratingcomponents from soil science while attempting to introduce a consistent terminology that is understand-able to a variety of stakeholders. RECARE aims to assess how soil threats and prevention and remediationmeasures affect ecosystem services. Changes in the natural capital’s properties influence soil processes,which support the provision of ecosystem services. The benefits produced by these ecosystem servicesare explicitly or implicitly valued by individuals and society. This can influence decision- and policymak-ing at different scales, potentially leading to a societal response, such as improved land management.The proposed ecosystem services framework will be applied by the RECARE project in a transdisciplinaryprocess. It will assist in singling out the most beneficial land management measures and in identifyingtrade-offs and win–win situations resulting from and impacted by European policies. The framework thusreflects the specific contributions soils make to ecosystem services and helps reveal changes in ecosystemservices caused by soil management and policies impacting on soil. At the same time, the framework issimple and robust enough for practical application in assessing soil threats and their management withstakeholders at various levels.