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.     

Lower thermal capacity limits of the common brown shrimp (Crangon crangon,L.)

Brown shrimp (Crangon crangon, L.) are subjected to a huge annual temperature range, and certain thermal conditions during winter have been identified to affect the brown shrimp population. Despite that, little is known about its thermal biology with regard to critically low temperatures. In the present study, we determined the critical thermal minima (CT_min) and the critical lethal minima (CL_min) of male and female brown shrimp of different body sizes in laboratory-based experiments. For the CT_min trials, shrimp were acclimated to 4.0, 9.0, and 14.0 °C and exposed to a cooling rate of ?0.2 °C min^?1. In the CL_min trials, brown shrimp were exposed to a cooling rate of ?1.0 °C day^?1 without prior thermal acclimation. Acclimation temperature significantly affected the temperature tolerance of brown shrimp (p < 0.001). CT_min among the experimental groups just varied slightly, and no clear effect of gender or body size was observed. In the CL_min trials, brown shrimp even tolerated the coldest temperature of ?1.7 °C that could be established in the experimental setup. However, we observed a negative relationship between temperature and reactivity within the range of 7.0 and 1.0 °C that was determined by means of the flicking response. This relationship suddenly broke between 1.0 and 0.0 °C where an abrupt drop in the reactivity of the shrimp became apparent. The results of this study revealed that brown shrimp hold a wider thermal range as originally reported and that it can cope with subzero temperatures. Implications of low-temperature tolerance are discussed in the context of the brown shrimp’s ecology as well as stock assessment.     

TEMPO-Mediated Oxidation of Norway Spruce and Eucalyptus Pulps: Preparation and Characterization of Nanofibers and Nanofiber Dispersions

This study deals with 2,2,6,6-tetramethylpiperidine-1-oxyl (TEMPO)-mediated oxidation of cellulose. Softwood and hardwood pulp fibers were suspended in water and oxidized to various extents at pH 10 and 22 °C using sodium hypochlorite in the presence of TEMPO radical and sodium bromide. This reaction system is known to be the most efficient one for the introduction of both surface carboxyl and aldehyde groups. Important relationships between formation of these functional groups and the fibrillation yield, light transmittance of the water dispersions and degree of polymerization of the oxidized softwood and hardwood pulps were established in the present study. A birefringence test confirmed the presence of nanofibers which according to atomic force microscopy analyses had diameters in the 1.6–3.8 nm range.     

Microbial reaction rates and bacterial communities in sediment surrounding burrows of two nereidid polychaetes (Nereis diversicolor and N. virens)

The effects of infaunal mode of life on sediment properties, microbial reaction rates, as well as abundance and composition of bacterial communities were studied in sediment surrounding burrows (mucus lining, oxidised wall, ambient anoxic and surface sediment) of two closely related, but behaviourally different, nereidid polychaete worms: the facultative suspension-feeder Nereis (Hediste) diversicolor and the obligate deposit-feeder Nereis (Neanthes) virens. Burrow sediment of the two species was collected from two adjacent (50 m distance) shallow sandy locations (Kertinge Nor, Denmark). The burrow lining and wall of both polychaete species were enriched in organic matter originating from mucous secretions by the inhabitants and phytoplankton trapped through irrigation. This was more evident for N. diversicolor that shows a significantly higher irrigation rate than N. virens. Both the organic matter mineralisation rates (based on anaerobic incubations) and bacterial abundance were higher along the burrow linings and walls. However, accumulation of porewater TCO₂ and dissolved organic carbon in sediments adjacent to burrows increased most rapidly in the presence of N. diversicolor, suggesting higher heterotrophic activity associated with this species. Surprisingly, bacterial abundance was lower around burrows of N. diversicolor than those from N. virens indicating that burrow environments from the first species harbour a more active bacterial community. Molecular fingerprints of the 16S rRNA gene from bacterial communities showed that the composition of the burrow linings and walls resembled the ambient anoxic sediment rather than the oxic sediment surface. On the other hand, the bacterial fingerprints of the sediment surrounding the burrows of the two polychaete species were markedly different suggesting either a site-specific difference in sediment parameters or a significant species-specific impact of the burrow inhabitants.     

Safety halls--an evaluation

PROBLEM: In most countries, drivers licensing systems usually include teaching some aspects of using safety equipment (e.g., airbags and seat belts). However, there is now evidence worldwide that such education is inadequate, as indicated by, for example, the overrepresentation of young drivers who do not use seat belts. METHOD: A randomized controlled study was conducted in Sweden to evaluate the effects of visiting a facility known as a "safety hall" in combination with the mandatory skid training. The results were assessed to determine the effects of the knowledge and attitudes of learner drivers in the following subjects: airbags, securing loads, seat belts, sitting posture, speed, and tires. An experimental group and a control group comprising 658 and 668 learners, respectively, answered identical questionnaires on three different occasions (pretest, posttest 1, and posttest 2). RESULTS: The results show that, for most of the topics considered, knowledge and attitudes in both groups were better at posttest 2 than at the pretest, and in general, the best knowledge and attitudes were found in the experimental group. The combined safety/skid training seems to have had the greatest effect on seat belts and loads. The findings also indicate that the safety halls can be further improved to achieve an even better effect. IMPACT ON TRAFFIC SAFETY: The use of safety halls has improved the knowledge and attitudes of learner drivers concerning several important areas related to traffic safety. Since knowledge and attitudes are important predictors of behavior, implementing safety halls can be expected to lead to improvements, especially regarding the use of safety belts and securing loads.     

DNA vaccines

Immunization by genes encoding immunogens, rather than with the immunogen itself, has opened up new possibilities for vaccine research and development and offers chances for new applications and indications for future vaccines. The underlying mechanisms of antigen processing, immune presentation and regulation of immune responses raise high expectations for new and more effective prophylactic or therapeutic vaccines, particularly for vaccines against chronic or persistent infectious diseases and tumors. Our current knowledge and experience of DNA vaccination is summarized and critically reviewed with particular attention to basic immunological mechanisms, the construction of plasmids, screening for protective immunogens to be encoded by these plasmids, modes of application, pharmacokinetics, safety and immunotoxicological aspects. DNA vaccines have the potential to accelerate the research phase of new vaccines and to improve the chances of success, since finding new immunogens with the desired properties is at least technically less demanding than for conventional vaccines. However, on the way to innovative vaccine products, several hurdles have to be overcome. The efficacy of DNA vaccines in humans appears to be much less than indicated by early studies in mice. Open questions remain concerning the persistence and distribution of inoculated plasmid DNA in vivo, its potential to express antigens inappropriately, or the potentially deleterious ability to insert genes into the host cell's genome. Furthermore, the possibility of inducing immunotolerance or autoimmune diseases also needs to be investigated more thoroughly, in order to arrive at a well-founded consensus, which justifies the widespread application of DNA vaccines in a healthy population.     

PROTECTING BEIJLNG'S MUNICIPAL WATER SUPPLY THROUGH WATERSHED MANAGEMEN AN ECONOMIC ASSESSMENT1

ABSTRACT: Watersheds above the Miyun reservoir, a principal source of surface water for Beijing, are designated to be managed for water production, but under the principle of multiple use. Because of the scarcity of arable land, these watersheds cannot be managed only for drinking water. Efforts are under way to reduce sediment delivery, improve the quality of water entering Miyun reservoir, and improve the welfare of watershed inhabitants. An economic appraisal of a watershed management project for the 3,298‐ha Shixia watershed above the Miyun reservoir, indicates a 24 percent economic rate of return on the investment made in the project. The net present value (NPV) of the project, calculated at a discount rate of 10 percent, is approximately US$3.49 million. Sensitivity analyses indicate that a doubling of labor costs lowers the NPV to US$2.07 million and a 10 percent decrease in benefits lowered the NPV to US$2.87. It is concluded that the implementation of conservation practices on the Shixia Demonstration Watershed represent an economically efficient use of resources.     

Rheological Studies of Microfibrillar Cellulose Water Dispersions

The rheological behaviour of microfibrillar cellulose (MFC) water dispersions has been investigated. For the first time a detailed study of shear dependent viscosity at low and high shear rate is presented. A peculiar time dependent behaviour measured in the area between 0 and 1000 s⁻¹ was identified. The study shows a hysteresis loop in the shear rate–viscosity relationship at low shear rate. Additional time dependent shear rate measurements were performed, and a hypothesis for a mechanism of interaction and formation of a fibrils network was suggested. Higher temperature caused lower viscosity values, and this difference was increased at higher shear rate values. Oscillatory measurements showed how the closeness of the fibrils helps network creations. Data obtained from high shear measurements showed that 1% MFC water dispersions had a dilatant behaviour at ultra high shear rates with values increasing from 120 to 300 Pa s in the area between 180,000 and 330,000 s⁻¹ .     

ECONOMIC EVALUATION OF WATERSHED PROJECTS - AN OVERVIEW METHODOLOGY AND APPLICATION1

ABSTRACT: Deforestation and intensive land use on a global scale has resulted in watershed deterioration and threatened municipal and irrigation reservoirs. Watershed rehabilitation programs must allocate funds to priority projects. A tool for decisionmakers is presented which provides a four-step overview economic analysis by the integration of physical and biological considerations. The overview tool is applied to a current proposed watershed project in Morocco.