Über den Einfluß der Thioglykolsäure auf Muskelatmung und Redoxpotential

The Science of Nature -     

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

Rapid fetal karyotype from cystic hygroma and pleural effusions

Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 10⁶ cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10⁶ cells/ml.     

Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty-one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

DEVELOPMENT AND TESTING OF BIOINDICATORS FOR MONITORING THE CONDITION OF ESTUARINE ECOSYSTEMS

As part of the Environmental Monitoring and Assessment Programin 1991, the field efficacy of six research indicators wasexamined in the estuarine systems of the Gulf of Mexico. Theutility of these indicators was tested by examining thoseresponses at both ends of multiple environmental gradients;namely, under minimally impacted conditions (reference) andheavily impacted conditions (by hypoxia, industrialdischarges, agricultural runoff). In addition, the geographiceffects of location (east and west of the Mississippi River)were examined. Numbers and frequencies of pathologies,abundance of splenic macrophage aggregates, and vertebralabnormalities showed response patterns that suggest widerfield testing along full gradients rather than simply theextremes of the gradient are warranted. Selected bloodproteins showed some promise but logistical constraints inestuarine environments may limit its utility. Concentrationsof selected organic compounds in bile showed no differences inthis study between references and contaminated sites.Molecular bioindicators are discussed with regard to theirpotential utility as indicators of ecosystem conditions. Ofthese potential indicators, the use of vitellogenin assays asa measure of reproductive impairment and frequency of shelldisease in selected crustaceans as an indicator ofimmunological aberrations deserve further examination.     

Seasonal changes in an intertidal community affected by sewage pollution

Seasonal changes in structure of a rocky intertidal community affected by sewage pollution at Quequén (Argentina) were studied over a period of 2 years. Most species showed a decrease in cover values in the polluted area. On the other hand, a small proportion of organisms favoured by organic enrichment predominated around the outfall during the period of study. Community structure was not significantly altered by frosts or windstorms. Desiccation is identified as the main physical stress. A combination of late spring high temperatures with extreme midday low-tides caused by northerly winds was responsible for heavy losses in dominant algae. Major seasonal changes in community structure were primarily due to variations in area covered by the chlorophyte Ulva lactuca, and crusts of blue-green algae and diatoms in the vicinity of the outfall. Highest diversity values were attained during either late winter or spring, due to increased abundances of several seasonal algae. Abundance of the dominant organism, the bivalve Brachidontes rodriguezi, remained stable, showing only slight, non-seasonal, changes. Since the absence of B. rodriguezi is an indication of heavy pollution, temporal stability of this species suggests that the intensity of sewage discharges did not vary over the period of study.     

Comparison of Soil Extraction Isotherms of Soil Samples Saturated With Nonpolar Liquids

In multiphase systems capillary pressures play a significant role on fluid movement and retention. The facility to predict the effect of different thermal remediation strategies requires the knowledge of the effect of temperature on capillary pressure-saturation relationships in the soils. The objective of recent study was (a) to develop a technique for routinely measuring the pressure-saturation curves of soil samples saturated with a nonpolar liquid at different regulated temperatures (b) to build a database using the measured pressure-saturation curves and the physical, chemical properties of the model soils (c) to establish the dependence of nonaqueous phase liquid retention on the soil properties and the temperature. The retention curves (extraction isotherms) with nonaqueous phase liquid were determined using a modified pressure plate extractor. The wetting phase was a non-aromatic hydrocarbon distillation product. Pressure plates were designed and constructed in the laboratory of our department. The temperature was held constant at 20, 40 and 60 ^∘C. Statistical analysis was performed involving selected soil parameters and the measured nonaqueous phase liquid retention data. The results show that knowing some easily measurable soil parameters (bulk density, particle size distribution, humus and lime content) we can estimate the nonaqueous phase liquid retention of the soils. The measured “extraction isotherms” provide essential information about the temperature-dependency of pressure-saturation curves.