Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

A New Modus Operandi for the Agricultural Economics Profession

Agricultural economics has, until the 1990s, enjoyeda reputation for relevance and usefulness to theagri-food industry and policy-makers. Thatreputation has been jeopardized by a growinginfatuation with models and quantification, and aconcomitant underemphasis placed on many complexproblems and issues of society. An illustrativeexample is explored, using agriculturalactivity-related damage to the natural resourcebase, environment and ecology. Agriculturaleconomists are urged to respond by broadening theirterms of reference and joining forces with otherdisciplines.     

Untangling unexpected terrestrial conservation challenges arising from the historical human exploitation of marine mammals in the Atlantic sector of the Southern Ocean

Intensive human exploitation of the Antarctic fur seal (Arctocephalus gazella) in its primary population centre on sub-Antarctic South Georgia, as well as on other sub-Antarctic islands and parts of the South Shetland Islands, in the eighteenth and nineteenth centuries rapidly brought populations to the brink of extinction. The species has now recovered throughout its original distribution. Non-breeding and yearling seals, almost entirely males, from the South Georgia population now disperse in the summer months far more widely and in higher numbers than there is evidence for taking place in the pre-exploitation era. Large numbers now haul out in coastal terrestrial habitats in the South Orkney Islands and also along the north-east and west coast of the Antarctic Peninsula to at least Marguerite Bay. In these previously less- or non-visited areas, the seals cause levels of damage likely never to have been experienced previously to fragile terrestrial habitats through trampling and over-fertilisation, as well as eutrophication of sensitive freshwater ecosystems. This increased area of summer impact is likely to have further synergies with aspects of regional climate change, including reduction in extent and duration of sea ice permitting seals access farther south, and changes in krill abundance and distribution. The extent and conservation value of terrestrial habitats and biodiversity now threatened by fur seal distribution expansion, and the multiple anthropogenic factors acting in synergy both historically and to the present day, present a new and as yet unaddressed challenge to the agencies charged with ensuring the protection and conservation of Antarctica’s unique ecosystems.     

Critical review of Integrated Water Resources Management: Moving beyond polarised discourse

Integrated Water Resource Management (IWRM) emerged as a popular concept in the water sector in the 20th century. From a highly techno-centric approach in the past, it has taken a new turn embracing Habermasian communicative rationality as a place-based nexus for multiple actors to consensually and communicatively integrate decisions in a hydrological unit. The 'how to integrate' approach had remarkable appeal worldwide in promoting authentic participation of all stakeholders. However, critics argue that the domain of water resource management is a political process of contestation and negotiation; the emphasis is on complexities, contextuality, power dynamics and the importance of analysing real world situations. They demonstrate 'how integration cannot be achieved' given the power dynamics in social interactions. These apparently contradictory discourses draw on different theoretical paradigms and polarise the discourse on IWRM, without offering constructive alternatives. To this end, this paper offers an option to complement this polarised discourse by examining 'how integration actually does take place' in a strategic context thereby facilitating consensual decisions to integrate water management for a sustainable future.     

Parxit,the United States,and the world

<正>1.Introduction And now we have Parxit.On 1 June 2017,President Trump issued the highly unpopular announcement that the United States will withdraw from the 2015 Paris Agreement on Climate Change.In this brief piece,I will try to explain the reasons for this nearly unprecedented act of foreign policy folly(Ronald Reagan did pull out of the Law of the Sea