Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Root penetration through sealing layers at mine deposit sites.

To prevent acid mine drainage arising from oxygen and water penetration of sulphide-rich mine tailings, the tailings are covered with layers of dry sealing material. Plant roots have a great ability to penetrate dense materials, and if the roots are able to penetrate the sealing layer of a tailings deposit, its oxygen-shielding properties could be reduced. The objective of this study was to evaluate whether plant roots are able to penetrate sealing layers covering mine tailings deposits. Root penetration into layers of various sealing materials, such as clayey moraine (clay, 8-10%; silt, 22-37%; sand, 37-55%; gravel, 15-18%), moraine (unspecified), 6-mm bentonite (kaolin clay) fabric, lime and clay, Cefyll (mixture of pulverized coal fly ash, cement and water) and a mixture containing biosludge (30-35%) and bioashes (65-70%), was investigated. In the field, roots were studied by digging trenches alongside vegetation growing in 3- and 10-year-old mine sites. In the greenhouse root growth of Betula pendula, Pinus sylvestris, Poa pratensis and Salix viminalis were studied in compartments where the plants had been growing for 22 months. The results from the field experiment indicated that roots are able to penetrate both deep down in the cover layer (1.7 m) and also into the sealing layers of various materials, and even to penetrate hard Cefyll. The addition of nutrients in the top cover reduced deep root growth and thereby also penetration through the sealing layer. Low hydraulic conductivity of the sealing layer or a thick cover layer had less effect on root penetration. In the greenhouse experiment roots did not penetrate the thin bentonite fabric, due to low pH (2.1-2.7) that was created from the underlying weathered mine tailings. The clayey moraine was penetrated by all species used in the greenhouse experiment; Pinus sylvestris had the greatest ability to penetrate. To prevent root penetration of the other sealing layer, a suitable condition for the plants should be created in the upper part of the cover layer, namely a sufficient amount of plant nutrients. However, to define such a condition is difficult since different plant species have different requirements.     

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13

We describe the first prenatally detected case of a small de novo interstitial duplication of chromosome 16q. This chromosomal aberration is extremely rare. Amniocentesis was indicated by advanced maternal age only. Ultrasound examinations of the foetus showed no abnormalities. Conventional and molecular cytogenetic analyses on cultured amniocytes by comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH) using partial chromosome paints and a locus-specific YAC clone revealed a de novo direct duplication of the chromosomal region 16q11.2-q13 leading to a partial trisomy 16q (46,XX,dup(16)(q11.2q13)). There are only five postnatal reports of comparable duplications involving this chromosomal region. These patients presented with little or no associated dysmorphic features but with significant neurodevelopmental delay and severe behavioural problems. After genetic counselling, the parents opted for termination of pregnancy. Post-mortem examination showed slight facial dysmorphic signs, minor dysgenesis of the ovaries and an atypical outflow of the arteria thyroidea ima. Copyright © 2006 John Wiley & Sons, Ltd.     

Local Agenda 21 in Four Swedish Municipalities: A Tool towards Sustainability?

Four small- to medium-sized municipalities in the south-east of Sweden were chosen for a 5-year study of their Local Agenda 21 (LA21) processes. The study shows that the LA21 processes have instigated many new ideas, brought fields together and introduced new subjects into the municipal world. In the decisions of the local governments environmental considerations are treated seriously. There are signs of an extended dialogue and of public influence, especially within fields where citizens are directly involved. LA21 does not seem to have great influence on which natural resources are dealt with, but does on how they are dealt with. New stakeholders within and outside the municipal organization have been identified through the LA21 processes, and more comprehensive ways of solving problems and a positive climate for testing new ideas have been created. In these respects LA21 has been and will be a significant support to the development of appropriate natural resource management at the local level.     

Globaler und regionaler Klimawandel

The interdependences between climate and humanity are becoming increasingly apparent, which makes climatology an upto-date and strongly discussed subject. Its task is to identify and examine relatively long-term, regional and global, natural and anthropogenic developments. A global, long-term view reveals a striking increase of surfacenear air temperature since the beginning of the industrial age. On a regional scale, trends differ considerably, but also Germany shows an apparent trend of increasing temperature and precipitation. The development of extreme events is more difficult to judge; the heat summer of 2003 in Europe, however, is among the phenomena that are likely to occur more frequently in the future. The influence of different natural and anthropogenic factors on the climate is expressed, amongst others, through their radiative forcings. Greenhouse gases emitted from anthropogenic activities are of particular significance since their concentration in the atmosphere keeps increasing. Mathematical modeling has made it possible to reconstruct the climate development of the past with increasing precision. The currently observed warming can only be comprehended by assuming anthropogenic influences. For the future development different scenarios have been calculated in order to deduce strategies for necessary action.     

The effect of nitrogen deficiency,methionine and inhibitors of methionine metabolism on the DMSP contents of Tetraselmis subcordiformis (Stein)

The unicellular alga Tetraselmis (Platymonas) subcordiformis (Prasinophyceae) displayed a two-phase increase in DMSP (dimethylsulfoniopropionate) contents in response to nitrogen deficiency. In the first phase, DMSP pools increased by 75% within 24 h. The second increase in DMSP was observed after 14 d and was accompanied by cyst formation. Methionine metabolism was involved in DMSP accumulation. A 2.6-fold increase of the DMSP pool could be induced by supplementing a complete ASP (artifical seawater Provasoli) medium with 100 M L-methionine. Inhibition of methionine utilization by T. subcordiformis caused by the addition of S-adenosylhomocystein, a competitive inhibitor of S-adenosylmethionine-dependent transmethylases, resulted in a 24% increase of DMSP contents after 7 h. DMSP accumulation after hyperosmotic shock was significantly delayed when methionine liberation from proteins was inhibited by a set of protease inhibitors. A model for the mechanism of DMSP accumulation is presented on the basis of these data and additional information from the literature. It is proposed that methionine availability in T. subcordiformis determines the rate of DMSP synthesis.