Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome

Loeys-Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course. We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys-Dietz syndrome. Copyright © 2006 John Wiley & Sons, Ltd.     

Droplet digital PCR is a cost-effective method for analyzing long cell-free DNA in maternal plasma: Application in preeclampsia

Objective

Long cell-free DNA (cfDNA) can be found in the plasma of pregnant women and cancer patients. We investigated if droplet digital PCR (ddPCR) can analyze such molecules for diagnostic purposes using preeclampsia as a model.

Method

Plasma samples from ten preeclamptic and sixteen normal pregnancies were analyzed. Two ddPCR assays targeting a single-copy gene, VCP, and one ddPCR assay targeting LINE-1 repetitive regions were used to measure the percentages of long cfDNA >533, 1001, and 170 bp, respectively. The LINE-1 assay was developed as guided by in silico PCR analyses to better differentiate preeclamptic and normal pregnancies.

Results

Preeclamptic patients had a significantly lower median percentage of long cfDNA than healthy pregnant controls, as determined by the LINE-1 170 bp assay (28.9% vs. 35.1%, p < 0.0001) and the VCP 533 bp assay (6.6% vs. 8.7%, p = 0.014). The LINE-1 assay provided a better differentiation than the VCP 533 bp assay (area under ROC curves, 0.94 vs. 0.79).

Conclusion

ddPCR is a cost-effective approach for unlocking diagnostic information carried by long cfDNA in plasma and may have applications for the detection of preeclampsia. Further longitudinal studies with larger cohorts are required to assess the clinical utility of this test.     

Prenatal diagnosis of PORCN-related developmental syndrome in a fetus: A novel phenotype

We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography. This is the first report of a prenatal phenotype involving a fetal effusion associated with variants in the PORCN gene, with skeletal findings identified later in gestation on ultrasonography. The diagnosis was confirmed on neonatal examination.     

Levels and trends of persistent organic pollutants in ringed seals (Phoca hispida) from Central West Greenland, with particular focus on polybrominated diphenyl ethers (PBDEs)

Polybrominated diphenyl ethers (PBDEs) and the organochlorine compounds polychlorinated biphenyls (PCBs), DDTs, HCB, chlordane-related pesticides, HCH and toxaphene were analysed in blubber of juvenile ringed seals from Central West Greenland collected between 1982 and 2006. The longest time series could be established for PBDEs, partly based on archived material, while PCBs and DDTs covered a study period from 1994-2006. All organochlorines showed decreasing trends, most pronounced for DDT and HCH with an annual change of 8%. BDE-47 had a significantly increasing trend of 5% annually. It was the only BDE congener consistently above the detection limit, with annual median concentrations between 0.78 ng/g lw to 3.54 ng/g lw, i.e. about 10 times lower than values from East Greenland observed in a similar time trend study on ringed seal blubber [Rigét F, Vorkamp K, Dietz R, Rastogi SC. Temporal trend studies on polybrominated diphenyl ethers (PBDEs) and polychlorinated biphenyls (PCBs) in ringed seals from East Greenland. J Environ Monit 2006; 8: 1000-5]. A clear East>West difference was also found for PCBs and DDTs, but not for chlordanes, toxaphene or HCHs. Sigma 10-PCB, Sigma DDT and Sigma Chlordanes had similar annual median concentrations, typically exceeding SigmaPBDE by two orders of magnitude. The concentrations of HCH and toxaphene were in an intermediate group, with highest annual median concentrations of 135 ng/g lw and 20 ng/g lw, respectively. For most compound groups, the circumpolar trend previously established under for example the Arctic Monitoring and Assessment Programme was confirmed, but apparently, more data are needed for chlordane-related compounds and toxaphene. Statistical analyses of the compound patterns in the ringed seal samples revealed significantly greater differences between seals from East and West than between different sampling years. Higher proportions of PCBs and DDTs and lower proportions of chlordanes and HCHs were found in seals from East Greenland than in those from West Greenland. Based on principal component analysis of individual congener and compounds, seals from East Greenland were found to contain higher proportions of the higher chlorinated CB congeners. Varying patterns between sampling locations may be caused by different exposure situations related to contaminant emissions and transport, but different feeding habits may also affect the contaminant composition.     

PFAS Experts Symposium: Statements on regulatory policy,chemistry and analytics,toxicology, transport/fate,and remediation for per‐ and polyfluoroalkyl substances (PFAS) contamination issues

Sixty leading members of the scientific, engineering, regulatory, and legal communities assembled for the PFAS Experts Symposium in Arlington, Virginia on May 20 and 21, 2019 to discuss issues related to per‐ and polyfluoroalkyl substances (PFAS) based on the quickly evolving developments of PFAS regulations, chemistry and analytics, transport and fate concepts, toxicology, and remediation technologies.  The Symposium created a venue for experts with various specialized skills to provide opinions and trade perspectives on existing and new approaches to PFAS assessment and remediation in light of lessons learned managing other contaminants encountered over the past four decades. The following summarizes several consensus points developed as an outcome of the Symposium:

• Regulatory and policy issues: The response by many states and the US Environmental Protection Agency (USEPA) to media exposure and public pressure related to PFAS contamination is to relatively quickly initiate programs to regulate PFAS sites. This includes the USEPA establishing relatively low lifetime health advisory levels for PFAS in drinking water and even more stringent guidance and standards in several states. In addition, if PFAS are designated as hazardous substances at the federal level, as proposed by several Congressional bills, there could be wide‐reaching effects including listing of new Superfund sites solely for PFAS, application of stringent state standards, additional characterization and remediation at existing sites, reopening of closed sites, and cost renegotiation among PRPs.
• Chemistry and analytics: PFAS analysis is confounded by the lack of regulatory‐approved methods for most PFAS in water and all PFAS in solid media and air, interference with current water‐based analytical methods if samples contain high levels of suspended solids, and sample collection and analytical interference due to the presence of PFAS in common consumer products, sampling equipment, and laboratory materials.
• Toxicology and risk: Uncertainties remain related to human health and ecological effects for most PFAS; however, regulatory standards and guidance are being established incorporating safety factors that result in part per trillion (ppt) cleanup objectives. Given the thousands of PFAS that may be present in the environment, a more appropriate paradigm may be to develop toxicity criteria for groups of PFAS rather than individual PFAS.
• Transport and fate: The recalcitrance of many perfluoroalkyl compounds and the capability of some fluorotelomers to transform into perfluoroalkyl compounds complicate conceptual site models at many PFAS sites, particularly those involving complex mixtures, such as firefighting foams. Research is warranted to better understand the physicochemical properties and corresponding transport and fate of most PFAS, of branched and linear isomers of the same compounds, and of the interactions of PFAS with other co‐contaminants such as nonaqueous phase liquids. Many PFAS exhibit complex transport mechanisms, particularly at the air/water interface, and it is uncertain whether traditional transport principles apply to the ppt levels important to PFAS projects. Existing analytical methods are sufficient when combined with the many advances in site characterization techniques to move rapidly forward at selected sites to develop and test process‐based conceptual site models.
• Existing remediation technologies and research: Current technologies largely focus on separation (sorption, ion exchange, or sequestration). Due to diversity in PFAS properties, effective treatment will likely require treatment trains. Monitored natural attenuation will not likely involve destructive reactions, but be driven by processes such as matrix diffusion, sorption, dispersion, and dilution.

The consensus message from the Symposium participants is that PFAS present far more complex challenges to the environmental community than prior contaminants. This is because, in contrast to chlorinated solvents, PFAS are severely complicated by their mobility, persistence, toxicological uncertainties, and technical obstacles to remediation—all under the backdrop of stringent regulatory and policy developments that vary by state and will be further driven by USEPA. Concern was expressed about the time, expense, and complexity required to remediate PFAS sites and whether the challenges of PFAS warrant alternative approaches to site cleanups, including the notion that adaptive management and technical impracticability waivers may be warranted at sites with expansive PFAS plumes. A paradigm shift towards receptor protection rather than broad scale groundwater/aquifer remediation may be appropriate.     

Evaluating the toxicity of food processing wastes as co-digestion substrates with dairy manure

Studies have shown that including food waste as a co-digestion substrate in the anaerobic digestion of livestock manure can increase energy production. However, the type and inclusion rate of food waste used for co-digestion need to be carefully considered in order to prevent adverse conditions in the digestion environment. This study determined the effect of increasing the concentration (2%, 5%, 15% and 30%, by volume) of four food-processing wastes (meatball, chicken, cranberry and ice cream processing wastes) on methane production. Anaerobic toxicity assay (ATA) and specific methanogenic activity (SMA) tests were conducted to determine the concentration at which each food waste became toxic to the digestion environment. Decreases in methane production were observed at concentrations above 5% for all four food waste substrates, with up to 99% decreases in methane production at 30% food processing wastes (by volume).     

Gendered vulnerabilities and grassroots adaptation initiatives in home gardens and small orchards in Northwest Mexico

With the retreat of the state under neoliberalism, the lack of (or negligible) government and non-governmental support reasserts grassroots initiatives as a global-change strategy. A feminist political ecology approach and the concept of adverse inclusion were used to facilitate an analysis of social differences shaping local-level adaptive responses. Adaptive responses of small farmers in the border village of San Ignacio, Sonora, Mexico, who are increasingly vulnerable to climate change, water scarcity, and changing labor markets were studied. Gender differences in production sites translate into diverse vulnerabilities and adaptive strategies. Local capacities and initiatives should be a focus of research and policy to avoid viewing women and men as passive in the face of global change. The dynamic strategies of San Ignacio women and men in home gardens and small orchards hold lessons for other regions particularly related to adaptation to climate change via agrobiodiversity, water resource management, and diversified agricultural livelihoods.     

Restoring Forest Landscapes: Important Lessons Learnt

Forest restoration at large scales, or landscapes, is an approach that is increasingly relevant to the practice of environmental conservation. However, implementation remains a challenge; poor monitoring and lesson learning lead to similar mistakes being repeated. The World Wildlife Fund (WWF), the global conservation organization, recently took stock of its 10 years of implementation of forest landscape restoration. A significant body of knowledge has emerged from the work of the WWF and its partners in the different countries, which can be of use to the wider conservation community, but for this to happen, lessons need to be systematically collected and disseminated in a coherent manner to the broader conservation and development communities and, importantly, to policy makers. We use this review of the WWF’s experiences and compare and contrast it with other relevant and recent literature to highlight 11 important lessons for future large-scale forest restoration interventions. These lessons are presented using a stepwise approach to the restoration of forested landscapes. We identify the need for long-term commitment and funding, and a concerted and collaborative effort for successful forest landscape restoration. Our review highlights that monitoring impact within landscape-scale forest restoration remains inadequate. We conclude that forest restoration within landscapes is a challenging yet important proposition that has a real but undervalued place in environmental conservation in the twenty-first century.     

The introduction of Littorina littorea to British Columbia, Canada: potential impacts and the importance of biotic resistance by native predators

Although the establishment and spread of non-indigenous species depends upon survival in the face of novel environmental conditions and novel biological interactions, relatively little attention has been focused on the specific role of native predators in limiting invasion success. The European common periwinkle, Littorina littorea, was recently introduced to the Pacific coast of Canada and provides a case study of an introduction into an area with an important predator guild (sea stars) that is functionally minor in the invader’s native habitat. Here, we assess the likelihood of establishment, spread, and negative ecological impact of this introduced gastropod, with an emphasis on the role of native sea stars as agents of biotic resistance. Size frequency distributions and local market availability suggest that L. littorea was most likely introduced via the live seafood trade. Non-native hitchhikers (e.g., the trematode Cryptocotyle lingua) were found on/in both market and field specimens. Laboratory studies and field observations confirmed that L. littorea can survive seasonal low salinity in Vancouver, British Columbia. Periwinkles also readily consumed native Ulva, suggesting that periwinkles could impact native communities via herbivory or resource competition. Unlike native gastropods, however, L. littorea lacked behavioural avoidance responses to Northeast Pacific predatory sea stars (Pisaster ochraceus and Pycnopodia helianthoides), and sea star predation rates on L. littorea were much higher than predation rates on native turban snails (Chlorostoma funebralis) in common garden experiments. We therefore expect periwinkle establishment in British Columbia to be limited to areas with low predator density, as is seen in its field distribution to date. We caution that this conclusion may understate the importance of the L. littorea introduction if it also serves as a vector for additional non-indigenous species such as C. lingua.