Klinefelter Syndrome: What should we tell prospective parents?

Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under-virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.     

Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.     

Use of the instream flow incremental methodology: A tool for negotiation

The resolution of conflicts arising from differing values and water uses requires technical information and negotiating skills. This article outlines the Instream Flow Incremental Methodology (IFIM), developed by the US Fish and Wildlife Service, and demonstrates that its use to quantify flows necessary to protect desired instream values aids negotiation by illustrating areas of agreement and possible compromises between conflicting water interests. Pursuant to a Section 404 permit application to the US Army Corps of Engineers made by City Utilities of Springfield, Missouri, in 1978, IFIM provided the means by which City Utilities, concerned with a secure water supply for a growing population, and those advocating instream values were satisfied that their requirements were met. In tracing the 15-month process, the authors conclude that the application of IFIM, as well as the cooperative stance adopted by the parties involved, were the key ingredients of the successful permit application.     

Measurement of organic contaminants and biological effects in Scottish waters between 1999 and 2005

Concentrations of organic contaminants were determined in sediment and fish collected annually at six sites around Scotland between 1999 and 2005, as part of the UK National Marine Monitoring Programme. Polycyclic aromatic hydrocarbons (PAHs) and chlorobiphenyls (CBs) were measured in sediment, while CBs and ethoxyresorufin-O-deethylase (EROD) activities were measured in the fish. Highest PAH concentrations in sediment were found at sites where higher coastal influences would be expected (e.g., Clyde and Solway) and four of the six sites gave PAH concentrations above OSPAR background assessment concentrations (BACs). A significant downward trend in the median total PAH concentrations, normalised to total organic carbon (TOC), was found at one of the six sites (Minches). The PAH profiles at all sites were consistent over the 6 year period, indicating that the sites are relatively stable and PAH sources are not changing. There was an indication of a greater petrogenic input on the west coast, with sediment from the Clyde, Solway and Minches having a greater proportion of 2- and 3-ring PAHs and a lower proportion of 5-ring PAHs. CB concentrations at all sites were low compared with UK estuarine sites and similar to sediment from more remote areas: however, BACs were exceeded. No significant trends were detected in either the sediment CB concentrations or patterns at any of the six sites. CB concentrations were significantly higher in fish liver collected from the Clyde. Concentrations at the other five sites were low, with the majority of samples having concentrations for the ICES7 CBs of <500 microg kg(-1) lipid weight. However, individual CB concentrations were still above the BACs. Hepatic EROD activities were measured in male plaice from 2002-2005 and were generally low (<10 pmol min(-1) mg protein(-1)). No temporal trends were detected in either CB concentrations or the EROD activity.     

Spatial Extent Of Degraded Sediment Quality In Puget Sound (Washington State, U.S.A.) Based Upon Measures Of The Sediment Quality Triad

A survey was designed and conducted to determine the severity, spatial patterns, and spatial extent of degraded sediment quality in Puget Sound (Washington State, USA). A weight of evidence compiled from results of chemical analyses, toxicity tests, and benthic infaunal analyses was used to classify the quality of sediments. Sediment samples were collected from 300 locations within a 2363 km² area extending from the US/Canada border to the inlets of southern Puget Sound and Hood Canal. Degraded conditions, as indicated with a combination of high chemical concentrations, significant toxicity, and adversely altered benthos, occurred in samples that represented about 1% of the total area. These conditions invariably occurred in samples collected within urbanized bays and industrial waterways, especially near the urban centers of Everett, Seattle, Tacoma, and Bremerton. Sediments with high quality (as indicated by no toxicity, no contamination, and the presence of a relatively abundant and diverse infauna) occurred in samples that represented a majority (68%) of the total study area. Sediments in which results of the three kinds of analyses were not in agreement were classified as intermediate in quality and represented about 31% of the total area. Relative to many other estuaries and marine bays of the USA, Puget Sound sediments ranked among those with minimal evidence of toxicant-induced degradation.     

Caste allocation in litter Pheidole: lessons from plant defense theory

The allocation to growth, defense and reproduction varies in social insects within a species' life cycle and between species. A life cycle model (Oster and Wilson 1978) generally failed to predict caste allocation in small litter-nesting colonies of Neotropical Pheidole. Two of its assumptions were often invalid: food was unlikely to be limiting in four of five populations, and sexual biomass production accelerated, not decelerated, with colony size in three of five populations. One of five Pheidole populations studied had higher caste ratios (soldiers /workers) in reproductive colonies as predicted, and in no species did caste functions conform to predictions. We also adapted three models from plant defense theory to study between-species patterns of caste allocation. Among 12 litter Pheidole the amount of sterile biomass devoted to soldiers varied from 18 to 62%. Queen size, growth rate, and soldier investment positively covaried. Only one model, the cost of replacement hypothesis (McKey 1979), correctly predicted that species with costly female alates invest more in defense. The two hypotheses linking apparency to defense may also be valid if fast-growing colonies are more likely to attract the attention of predators.     

An agenda for assessing and improving conservation impacts of sustainability standards in tropical agriculture

Sustainability standards and certification serve to differentiate and provide market recognition to goods produced in accordance with social and environmental good practices, typically including practices to protect biodiversity. Such standards have seen rapid growth, including in tropical agricultural commodities such as cocoa, coffee, palm oil, soybeans, and tea. Given the role of sustainability standards in influencing land use in hotspots of biodiversity, deforestation, and agricultural intensification, much could be gained from efforts to evaluate and increase the conservation payoff of these schemes. To this end, we devised a systematic approach for monitoring and evaluating the conservation impacts of agricultural sustainability standards and for using the resulting evidence to improve the effectiveness of such standards over time. The approach is oriented around a set of hypotheses and corresponding research questions about how sustainability standards are predicted to deliver conservation benefits. These questions are addressed through data from multiple sources, including basic common information from certification audits; field monitoring of environmental outcomes at a sample of certified sites; and rigorous impact assessment research based on experimental or quasi‐experimental methods. Integration of these sources can generate time‐series data that are comparable across sites and regions and provide detailed portraits of the effects of sustainability standards. To implement this approach, we propose new collaborations between the conservation research community and the sustainability standards community to develop common indicators and monitoring protocols, foster data sharing and synthesis, and link research and practice more effectively. As the role of sustainability standards in tropical land‐use governance continues to evolve, robust evidence on the factors contributing to effectiveness can help to ensure that such standards are designed and implemented to maximize benefits for biodiversity conservation.     

Conducting in-depth accident studies

In 1983 the Accident Research Unit at the Institute for Consumer Ergonomics began a major study, sponsored by the UK Department of Transport and three motor companies, to investigate the causes of injury to occupants in car accidents. This study has been under way for nearly ten years and the database of information is one of the most comprehensive of its kind in the world. This information plays a key role in establishing the priorities for safety research in the UK, based on real life accident data. This paper is concerned with the practical aspects of the collection and analysis of real life accident data. Issues include the establishment and maintenance of collaboration with police forces, hospital consultants and coroners; recruitment and training of staff; accident sampling; data quality control and large scale project management. The case is also made for the need to establish a coordinated European database of accident information to facilitate the development of appropriate safety requirements and to set priorities for safety research in Europe.     

The global environment: Past,present and future

The changing status of the global environment, in both developed and developing countries, and our perception of these changes since the convening of the United Nations Conference on the Human Environment in Stockholm in 1972 are reviewed. The present as well as potential future environmental issues facing mankind are discussed under three interrelated broad categories: interrelationship between people, resources, environment and development, rational use of natural resources and new patterns of development and lifestyle.     

Prenatal diagnosis of an intra-abdominal sacrococcygeal teratoma

The prenatal diagnosis of a presacral (type IV) sacrococcygeal teratoma (SCT) is described. The initial ultrasound appearance was suggestive of a lower urinary tract obstruction, but further ultrasonic examination and radiological imaging using contrast medium led to the diagnosis of SCT. This is the first prenatal diagnosis of a totally intra-abdominal SCT.