Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling

We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood. Copyright © 2002 John Wiley & Sons, Ltd.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Hazard property classification of waste according to the recent propositions of the EC using different methods

Hazard classification of waste is a necessity, but the hazard properties (named “H” and soon “HP”) are still not all defined in a practical and operational manner at EU level. Following discussion of subsequent draft proposals from the Commission there is still no final decision. Methods to implement the proposals have recently been proposed: tests methods for physical risks, test batteries for aquatic and terrestrial ecotoxicity, an analytical package for exhaustive determination of organic substances and mineral elements, surrogate methods for the speciation of mineral elements in mineral substances in waste, and calculation methods for human toxicity and ecotoxicity with M factors.In this paper the different proposed methods have been applied to a large assortment of solid and liquid wastes (>1 0 0).Data for 45 wastes – documented with extensive chemical analysis and flammability test – were assessed in terms of the different HP criteria and results were compared to LoW for lack of an independent classification. For most waste streams the classification matches with the designation provided in the LoW. This indicates that the criteria used by LoW are similar to the HP limit values.This data set showed HP 14 ‘Ecotoxic chronic’ is the most discriminating HP. All wastes classified as acute ecotoxic are also chronic ecotoxic and the assessment of acute ecotoxicity separately is therefore not needed. The high number of HP 14 classified wastes is due to the very low limit values when stringent M factors are applied to total concentrations (worst case method). With M factor set to 1 the classification method is not sufficiently discriminating between hazardous and non-hazardous materials. The second most frequent hazard is HP 7 ‘Carcinogenic’. The third most frequent hazard is HP 10 ‘Toxic for reproduction’ and the fourth most frequent hazard is HP 4 “Irritant – skin irritation and eye damage”. In a stepwise approach, it seems relevant to assess HP 14 first, then, if the waste is not classified as hazardous, to assess subsequently HP 7, HP 10 and HP 4, and then if still not classified as hazardous, to assess the remaining properties.The elements triggering the HP 14 classification in order of importance are Zn, Cu, Pb, Cr, Cd and Hg. Progress in the speciation of Zn and Cu is essential for HP 14. Organics were quantified by the proposed method (AFNOR XP X30-489) and need no speciation. Organics can contribute significantly to intrinsic toxicity in many waste materials, but they are only of minor importance for the assessment of HP 14 as the metal concentrations are the main HP 14 classifiers. Organic compounds are however responsible for other toxicological characteristics (hormone disturbance, genotoxicity, reprotoxicity…) and shall be taken into account when the waste is not HP 14 classified.     

Thermal and hydrometallurgical recovery methods of heavy metals from municipal solid waste fly ash

Heavy metals in fly ash from municipal solid waste incinerators are present in high concentrations. Therefore fly ash must be treated as a hazardous material. On the other hand, it may be a potential source of heavy metals. Zinc, lead, cadmium, and copper can be relatively easily removed during the thermal treatment of fly ash, e.g. in the form of chlorides. In return, wet extraction methods could provide promising results for these elements including chromium and nickel. The aim of this study was to investigate and compare thermal and hydrometallurgical treatment of municipal solid waste fly ash. Thermal treatment of fly ash was performed in a rotary reactor at temperatures between 950 and 1050 °C and in a muffle oven at temperatures from 500 to 1200 °C. The removal more than 90% was reached by easy volatile heavy metals such as cadmium and lead and also by copper, however at higher temperature in the muffle oven. The alkaline (sodium hydroxide) and acid (sulphuric acid) leaching of the fly ash was carried out while the influence of temperature, time, concentration, and liquid/solid ratio were investigated. The combination of alkaline-acidic leaching enhanced the removal of, namely, zinc, chromium and nickel.     

Oil dependency,political institutions,and urban–rural disparities in access to electricity in Africa

In line with the resource curse literature, this paper examines the effect of oil dependency on the disparities in access to electricity between urban and rural areas in Africa, conditional on the quality of political institutions. Based on data from 36 African countries over the period 2000–2017, our investigation suggests that oil rents (% of GDP) increase urban–rural disparities in access to electricity. However, the quality of institutions shapes the effect of oil dependency on these disparities. Specifically, a 10% increase in the institutional quality score reduces the adverse effects of oil rent on electricity access disparity by around 19%, and the negative impact of oil dependency on urban–rural disparities is reversed when institutional quality reaches a score of 52% on a scale from 0 to 100. The robustness tests support these results and call for strengthening the quality of institutions to overcome the resource curse in Africa.     

A mixed methodology for evaluating use of evidence in conservation planning

Conservation practitioners widely recognize the importance of making decisions based on the best available evidence. However, the effectiveness of evidence use in conservation planning is rarely assessed, which limits opportunities to improve evidence-based practice. We devised a mixed methodology for empirically evaluating use of evidence that applies social science tools to systematically appraise what kinds of evidence are used in conservation planning, to what effect, and under what limitations. We applied our approach in a case study of the Nature Conservancy of Canada (NCC), a leading land conservation organization. We conducted qualitative and quantitative analyses of 65 NCC planning documents (n = 13 in-depth) to identify patterns in evidence use, and surveyed 35 conservation planners to examine experiences of and barriers to using evidence. Although claims in plans contained a wide range of evidence types, 26% of claims were not referenced or associated with an identifiable source. Lack of evidence use was particularly apparent in claims associated with direct threats, particularly those identified as low (71% coded as insufficient or lacking evidence) or medium (45%) threats. Survey participants described relying heavily on practitioner experience and highlighted capacity limitations and disciplinary gaps in expertise among planning teams as barriers to using evidence effectively. We found that although time-intensive, this approach yielded actionable recommendations for improving evidence use in NCC conservation plans. Similar mixed-method assessments may streamline the process by including interviews and refining the document analysis frames to target issues or sections of concern. We suggest our method provides an accessible and robust point of departure for conservation practitioners to evaluate whether the use of conservation planning reflects in-house standards and more broadly recognized best practices.     

The wild ancestors of domestic animals as a neglected and threatened component of biodiversity

Domestic animals have immense economic, cultural, and practical value and have played pivotal roles in the development of human civilization. Many domesticates have, among their wild relatives, undomesticated forms representative of their ancestors. Resurgent interest in these ancestral forms has highlighted the unclear genetic status of many, and some are threatened with extinction by hybridization with domestic conspecifics. We considered the contemporary status of these ancestral forms relative to their scientific, practical, and ecological importance; the varied impacts of wild–domestic hybridization; and the challenges and potential resolutions involved in conservation efforts. Identifying and conserving ancestral forms, particularly with respect to disentangling patterns of gene flow from domesticates, is complex because of the lack of available genomic and phenotypic baselines. Comparative behavioral, ecological, and genetic studies of ancestral-type, feral, and domestic animals should be prioritized to establish the contemporary status of the former. Such baseline information will be fundamental in ensuring successful conservation efforts.     

Using ecosystem-services assessments to determine trade-offs in ecosystem-based management of marine mammals

The goal of ecosystem-based management (EBM) is to support a sustainable and holistic multisectored management approach, and is recognized in a number of international policy frameworks. However, it remains unknown how these goals should be linked to assessments and management plans for marine fauna, such as mammals and fish stocks. It appears particularly challenging to carry out trade-off analyses of various ocean uses without a framework that integrates knowledge of environmental, social, and economic benefits derived from nonstationary marine fauna. We argue this gap can be filled by applying a version of the ecosystem-service approach at the population level of marine fauna. To advance this idea, we used marine mammals as a case study to demonstrate what indicators could operationalize relevant assessments and deliver an evidence base for the presence of ecosystem services and disservices derived from marine mammals. We found indicators covering common ecosystem service categories feasible to apply; examples of indicator data are already available in the literature for several populations. We encourage further exploration of this approach for application to marina fauna and biodiversity management, with the caveat that conceptual tensions related to the use of the ecosystem service concept itself needs to be addressed to ensure acceptance by relevant stakeholders.     

An ecological framework for contextualizing carnivore–livestock conflict

Carnivore predation on livestock is a complex management and policy challenge, yet it is also intrinsically an ecological interaction between predators and prey. Human–wildlife interactions occur in socioecological systems in which human and environmental processes are closely linked. However, underlying human–wildlife conflict and key to unpacking its complexity are concrete and identifiable ecological mechanisms that lead to predation events. To better understand how ecological theory accords with interactions between wild predators and domestic prey, we developed a framework to describe ecological drivers of predation on livestock. We based this framework on foundational ecological theory and current research on interactions between predators and domestic prey. We used this framework to examine ecological mechanisms (e.g., density-mediated effects, behaviorally mediated effects, and optimal foraging theory) through which specific management interventions operate, and we analyzed the ecological determinants of failure and success of management interventions in 3 case studies: snow leopards (Panthera uncia), wolves (Canis lupus), and cougars (Puma concolor). The varied, context-dependent successes and failures of the management interventions in these case studies demonstrated the utility of using an ecological framework to ground research and management of carnivore–livestock conflict. Mitigation of human–wildlife conflict appears to require an understanding of how fundamental ecological theories work within domestic predator–prey systems.