Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis

Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.     

Erdwärme und Lithosphäre im Raum Südwestdeutschland/Schweiz

A geothermal survey of the Central Alps, the Swabian volcano, and the Rhinegraben area is presented. New results from seismic surface-wave investigations are used to estimate temperatures at the base of the lithosphere. Cross sections show the high position of the 1000 °C isotherm under the Rhinegraben in relation to its surroundings.     

Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

For the last 6 years, sonographic signs for excessive fluid accumulation in the backs of 10- to 12-week-old fetuses have been looked for prior to transabdominal chorionic biopsy. In 1400 pregnancies, subsequent karyotype analyses revealed 28 cases of Down syndrome. In 15 ( = 54 per cent), a large fluid cushion over most of the back had been documented at the time of biopsy. Only a few chromosomally normal fetuses with the same peculiarity were observed. The cushion was also present in fetuses with trisomies 18 and 13 , and in Turner syndrome. Systematic first-trimester screening for nuchal fluid accumulation seems to be a recommended method for the detection of Down syndrome and other chromosome anomalies in young pregnant women at low risk. It compares favourably with current methods of maternal serum screening performed at 16–18 weeks which require a higher number of invasive procedures.     

Reconstruction of palaeosalinity using carbon isotopes and benthic associations: a comparison

Carbon and oxygen isotopes were determined on 40 recrystallized shells of Late Jurassic bivalves from the Lusitanian Basin of Portugal. In contrast with the oxygen isotopes, which exhibited considerable diagenetic distortion, the carbon isotopes are thought to preserve a record of the salinity of the Jurassic marginal marine seas in which these bivalves lived. The reconstructed palaeosalinities range from 35‰ (euhaline) to 5‰ (oligohaline). Comparing these values with the palaeosalinity reconstructed from a palaeoecological analysis of 17 stratigraphic levels within the basin, the independently derived values agree in most cases. Strongly differing values are explained as being due to biotic factors and to diagenetic distortion of the isotopic signal; they are less likely to be due to small-scale time-averaging or insufficient microstratigraphic sampling. On the whole, the carbon isotope analyses are thought to produce reasonable palaeosalinity values, although data from infaunal, originally aragonitic bivalves appear to be less reliable than those from epifaunal bivalves with a predominantly or exclusively calcitic shell. As diagenetic alteration of the carbon isotope signal is, however, unpredictable and biotic effects on the isotopic composition are insufficiently known, palaeosalinity reconstructions based on stable isotope data should be supported by palaeoecological data.     

Flüchtige organische Verbindungen in Emissionen aus dem Hausbrand von Braunkohle

Volatile organic compounds were determined in stack-gas emissions from the residential burning of brown-coal briquets using adsorptive enrichment on hydrophobic adsorbents, thermal desorption and capillary-gas chromatographic analysis. 152 compounds were identified and quantified. Quantitative emission factors of the identified individual compounds were determined in relation to the amount of the fuel used. These factors permit assessment of the pollution of the city of Leipzig with volatile organic compounds resulting from the burning of indigenous lignite.     

Anwendung der Hasse-Diagrammtechnik

Using four dynamic criteria, the following environmental changes were evaluated: Global warming; destruction, of the stratospheric ozone layer; eutrophication and acidification of aquatic ecosystems; photochemical smog; reduction of the available area of agricultural soils; loss of species diversity; consumption of resources; reduction of crop yield; forest decline; noise, and smell. These ecosystem changes, or negative effects, were characterized by four dynamic criteria: 1) Regional importance, 2) extent of alteration, 3) resilience and 4) irreversibility. A multi-criteria assessment, accounting simultaneously for all four criteria, requires a generalized concept of order. Here, the concept of partially ordered sets, visualized by Hasse diagrams, was used to derive a priority list of environmental changes. Highest priority was equally assigned to the loss of species diversity, the consumption of resources and the destruction of the ozone layer. However, these ecosystem changes are incomparable to each other concerning the four criteria used and thus require different management strategies.