Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Effects of ocean temperature on the southern range limits of two understory kelps, <Emphasis Type="Italic">Pterygophora californica</Emphasis> and <Emphasis Type="Italic">Eisenia arborea</Emphasis>, at multiple life-stages

Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico, by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or (b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically, while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast, the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja California, as well as to the north along the California coast where both species co-occur.     

Sustainable Development and Strategic Thinking

From an economic point of view, the industrial economy is efficient to overcome situations of a scarcity of goods. From a technological point of view, the resource efficiency of the manufacturing processes of the industrial economy has been permanently improved during the last 200 years. In addition, cleaner processes have been developed. However, from an ecologic point of view, an increasing world population with increasing consumption has produced a ＂global footprint＂ which approaches the carrying capacity of the planet. A circular economy and its high-value spin-offs-a lake economy and a performance or functional service economy-can fulfil customers＇ needs with considerably less resource consumption, less environmental impairment in production and considerably less end-of-life product waste, especially in situations of affluence, when a considerable stock of physical goods and infrastructures exists. Also, in situations of a scarcity of natural resources, both energy and materials, often characterised by rapidly rising resource prices, the economic actors of a circular economy have a high competitive advantage over the actors of the industrial economy, due to much lower procurement costs for materials and energy. From a social point of view, a circular economy increases the number of skilled jobs in regional enterprises. However, the shift from a linear manufacturing economy to a circular or service economy means a change in economic thinking from flow （throughput） management to stock （asset） management： in a manufacturing economy with largely unsaturated markets, total wealth increases through accumulation as resource throughput （flow） is transformed into a higher stock of goods of better quality （but in a manufacturing economy with largely saturated markets, wealth represented by the stock of goods will no longer increase）; in a circular or service economy, total wealth increases through a smart management of existing physical assets （stock） that are adapted to changes in both technology and customer demand. This second approach not only applies to physical capital but equally to social capital, such as health and education and green GDP. To measure the social wealth of a population, it is not the amount of money spent on schools and hospitals that matters, butif this expenditure has led to a better education of the students, and a better health of the people.     

Geochemical characteristics of surficial sediments in a tropical estuary, south-west India

Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones.     

Grower reported pesticide poisonings among Florida citrus fieldworkers

In a 1981 survey of 436 Florida citrus growers, 27 pesticide related poisoning incidents were reported that were to have taken place within one year of the interview date. From these reports it is possible to estimate that there are 376 citrus fieldworker related poisonings per year in Florida. This number of estimated poisonings may be developed into an incidence rate of 113 fieldworker poisonings per 10,000 fieldworkers.     

Effects of equipment loadings on geosynthetic-lined slope behaviour.

When combined in the lining and covering of waste-containment facilities, soil and geosynthetic components protect the environment by acting as a hydraulic barrier. Equipment loading may significantly increase the tensile stress induced in geosynthetic components, leading to a potential stability problem. Large equipment loadings may also result in a localized circular slip surface during construction operations. New analytical method based on discrete element modelling is proposed for estimating the distribution of tensile force developed in the individual geosynthetic components of the lining system and for evaluating the safety factor of slope failure due to equipment loading. The analytical results of an example are presented to demonstrate the applicability of the analytical method for the lining system of a waste landfill. The analyses of the example show that equipment loading provide a substantial increase in the tensile forces of the geosynthetic components of a lining system and that the possibility of shallow failure due to equipment loading increases as the slope becomes steeper. This method is a useful tool for analysing the lining system of waste landfills with complex lining components.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.