International perspectives on the implementation of reproductive carrier screening

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.     

Beryllium natural background concentration and mobility: a reappraisal examining the case of high Be-bearing pyroclastic rocks

Beryllium is widely distributed in soils at low levels, but it can also occur naturally in higher concentrations in a variety of materials exploited for many industrial applications. Beryllium is also one of the most toxic natural elements and is known to be a human carcinogen. A concise account of the literature data on baseline concentrations of Be in soils illustrates the possibility of worldwide presence of areas with a high natural background concentration of Be (up to 300 mg/kg), the crustal abundance of which is generally estimated to be in the range 2–6 mg/kg. Nevertheless, the number of available data is rather limited in comparison with those about other toxic elements such as Pb, Cd and Cr. This has probably caused the choice of low values of concentration level as the reference for the definition of soil contamination: these values are not always realistic and are not applicable to large areas. As a case study, we report and analyse a diffuse, unusually high (up to 80 mg/kg, average approximately 20 mg/kg), natural occurrence of beryllium in loose and poorly consolidated pyroclastic layers related to the Pleistocene activity of the Vico volcano. Additionally, the analysis of Be leachability has been carried out, providing evidence of a not negligible mobility in contrast with the scarce data presented in the literature that usually indicate beryllium as an element with low mobility in oxidising surface environmental conditions. This research marks the beginning of a possible reappraisal of beryllium geochemical behaviour and background levels, providing more realistic reference values for risk assessment and land management.     

Pharmaceuticals in the Environment in Italy: Causes, Occurrence, Effects and Control

- DOI: http://dx.doi.org/10.1065/espr2006.01.004 Background, Aim and Scope Environmental contamination by pharmaceuticals is an emerging issue. Until recently, information on medicinal substances released into the environment was scant, but several studies have now been published. Data are, however, usually scattered and a systematic approach to this subject is generally lacking. Moreover, because of differences in the prevalence of diseases, treatment habits and options, or simply for market reasons, the pollution profile can differ significantly in different countries. The aim of this work is to review the papers dealing with environmental contamination by pharmaceuticals in Italy, with the aim of providing a comprehensive view on a national scale. Methods Papers related to environmental contamination by pharmaceuticals in Italy were reviewed, in order to offer a comprehensive view of this subject. Topics included analysis, occurrence, monitoring, modelling, treatment, control of the emissions, and ecotoxicological effects of pharmaceuticals in the environment. Results and Conclusion The literature suggests that pharmaceuticals are widespread contaminants, entering the environment from a myriad of scattered points. Patients, in case of drugs for human use, or animals for veterinary drugs, are the main sources of contamination. Pharmaceuticals can be ranked according to environmental loads, predicted by multiplying sales figures by the rate of metabolism in man or animals. Priority pharmaceuticals, i.e. the molecules of concern for the environment, can be measured in waste and surface water by liquid chromatography-tandem mass spectrometry, and the loads detected are generally comparable to the predicted ones. Pharmaceuticals are designed to stimulate a response in humans and animals at low doses, with a very specific target, so the implications for human health and the environment need to be assessed. In vitro and in vivo studies suggest that pharmaceutical principles, taken singularly or in combinations, and concentrations close to those detected in the environment, may have ecotoxicological effects. The sewage system is an important point in the control of contamination, but sewage treatment plants are not able efficiently to abate a substantial part of water-borne pharmaceuticals. Several variables play a role, however, in the processes of waste water treatment, and could be specifically adjusted to improve the efficiency of drug abatement, mitigating the potential environmental hazards. Recommendation and Perspective Pharmaceuticals in the environment are becoming a subject of global concern, with potential environmental consequences. Further knowledge of the causes, occurrence and effects of drugs as environmental pollutants is necessary for a better understanding of this ecological issue, as well as to improve abatement strategies, and to mitigate subtle environmental consequences.     

Risk factors associated with bus accident severity in the United States: A generalized ordered logit model

IntroductionRecent years have witnessed a growing interest in improving bus safety operations worldwide. While in the United States buses are considered relatively safe, the number of bus accidents is far from being negligible, triggering the introduction of the Motor-coach Enhanced Safety Act of 2011.MethodThe current study investigates the underlying risk factors of bus accident severity in the United States by estimating a generalized ordered logit model. Data for the analysis are retrieved from the General Estimates System (GES) database for the years 2005–2009.ResultsResults show that accident severity increases: (i) for young bus drivers under the age of 25; (ii) for drivers beyond the age of 55, and most prominently for drivers over 65 years old; (iii) for female drivers; (iv) for very high (over 65 mph) and very low (under 20 mph) speed limits; (v) at intersections; (vi) because of inattentive and risky driving.     

Reference materials for the monitoring of the aquatic environment--a review with special emphasis on organic priority pollutants

During recent years, the awareness of quality assurance and quality control in environmental analyses has constantly increased, especially due to the implementation of new guidelines and regulations at both the national and international level. Achieving comparable results by using certified reference materials is one of the primary concerns of the scientific community. As a result, there is a growing demand for certified reference materials to cover different matrices and pollutants. Moreover, these CRMs should be in close relationship to the determinants and target concentrations required by environmental bodies and European Directives as well. Supplementary information to this paper presents an inventory of reference materials available on the market from different suppliers against the priority pollutants listed in the Water Framework Directive. These CRMs cover matrices such as water, sediment and biota. The use of CRMs in relationship to appropriate analytical methods and relevant determinants is discussed and the need for matrix-CRMs, particularly for organic pollutants is emphasised. The use of proficiency testing schemes as an alternative for the lack of appropriate CRMs and future trends in the production of CRMs within the BCR framework are also discussed.