Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

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.     

Design and validation of a practical index for trauma assessment

In the past 20 years a variety of indices have been suggested for measuring the severity of trauma, however none of them meets the requirement of being a simple and objective instrument that can be utilized efficiently by lay persons and providers of health services without previous experience in triaging. A new system has been proposed which meets this requirement and which has been validated with 197 injured persons at the emergency ward of the Valle University Hospital in Call, Colombia. The instrument showed a high level of concordance with the conventional triaging method and classifies victims into four categories: critical with recovery unlikely, critical but recoverable, moderately serious, and ambulatory. There is discussion on the reliability of this instrument and it is recommended that it be validated with victims from larger disasters. Regardless, it has the advantage of being specific and free of the subjectivity that characterizes other indices.     

Surveillance for adverse health effects following a chemical release in west virginia

On 11 August 1985, a large inadvertent release occurred from a chemical manufacturing plant in Institute, West Virginia. The emission was related to overheating of a storage tank that contained chemicals for the production of aldicarb, a cholinesterase inhibiting pesticide. As a result of this emission, 136 persons were treated in five local emergency rooms, 29 of whom were hospitalized for one or more days, mostly for observation. No fatalities resulted. Interviews with treated persons and non-treated community residents confirmed that the health effects were transient and compatible with exposure to irritating vapors rather than with exposure to methyl isocyanate (a chemical used in the process) or to aldicarb. Only 5% of the treated persons and 5% of the community residents surveyed were adequately warned of the emission by the plant siren. Because persons in the nearby community are potentially vulnerable to chemical injury, we recommend the development of an improved warning system, a formal evacuation procedure, and other measures to limit exposure of persons in this area in the event of a future release.