Über den Einfluß der Thioglykolsäure auf Muskelatmung und Redoxpotential

The Science of Nature -     

Papierchromatographische Untersuchung von Thyroxin und anderen Jodthyroninen

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.     

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

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.