[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case]. / Glykogenose Typ IV (Andersen). Klinik, Pathologie und Genetik eines letalen perinatalen Falles.

Here we report the case of a newborn with glycogenosis type IV (Andersen disease), who died shortly after birth. The diagnosis was established in the first instance by light microscopy and histochemistry, and subsequently ultrastructurally. DNA could be extracted from a fibroblast cell culture by sequencing the causative GBE1 gene (glycogen branching enzyme 1). Two compound heterozygous mutations in the gene were identified. The differential diagnosis should include Lafora disease as well as polyglucosan body disease. Since there is no effective therapy for glycogenosis type IV to date, prenatal diagnosis is mandatory.

[Comparison between age-dependent (Wald alpha program) and age-independent (Ulm index) analysis program for prenatal detection of Down's syndrome with serum markers]. / Der Vergleich zwischen altersabhängigem (Alphaprogramm nach Wald) und altersunabhängigem (Ulm-Index) Analysenprogramm zur pränatalen Erfassung von Morbus Down mit Serummarkern.

An age-dependent analytic program (Alpha-Software from Wald) was compared to an age-independent Index (Ulm-Index) in order to determine effectivity of detection in prenatal screening for Down's Syndrome in 7060 pregnant women. The rate of accuracy was similar in both analytic programs (6 from 7), but, the rate of false-positive results was twice as high using the Ulm-Index (14.7 versus 7.7%). The higher rate of amniocentesis necessary using the age-independent Ulm-Index apparently does not justify this method for prenatal screening of Down's Syndrome.

[Noninvasive serum test for prenatal detection of Down syndrome, other chromosome abnormalities and open neural tube defects--a prospective study]. / Nichtinvasiver Serum-Test (NIS) zur pränatalen Erfassung von Morbus Down, anderen chromosomalen Anomalien und offenen Neuralrohrdefekten--Eine prospektive Studie.

Between September 1st 1990 and Juli 31st 1993, 5071 pregnant women were screened prospectively by the "triple-test", including maternal serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated oestriol in order to detect chromosomal anomalies and open neural tube defects. The serum samples were collected in collaboration with the obstetricians of the region of West-Mecklenburg and North-West-Brandenburg. Laboratory testing using radioimmunoassays was performed between weeks 15 and 20 of gestation, all serum specimens being investigated in only one institution. The original alpha-software from Wald et al. was the basis for calculating the statistical risk for Down's syndrome. Pregnant women with a high risk for Down's syndrome (cutoff > or = 1:250) were taken care of in a special outpatient clinic including procedures like amniocentesis and fetal blood sampling. Amongst 5071 pregnant women, 21 fetal anomalies were seen. Five cases of Down's syndrome, three of trisomy 18, one trisomy 13, two cases of triploidy and four cases of open neural tube defects, one 46 xy/45 x mosaic karyotype and one case of gastroschisis could be diagnosed correctly. One case of trisomy 21, one case of trisomy 18 and two open neural tube defects showed false negative results. Using the cutoff of 1:250 for prenatal detection of Down's syndrome and performing ultrasound routinely to determine gestational age, the sensitivity of the "triple-test" was 83.33% having a specificity of 92.68%. The predictive value of a positive test for prenatal diagnosis of Down's syndrome was 1.33%.(ABSTRACT TRUNCATED AT 250 WORDS)

[Case of XY-type gonadal dysgenesis with the development of bilateral gonadoblastomas]. / Ein Fall von reiner Gonadendysgensie des Typs XY mit Ausbildung doppelseitiger Gonadoblastome.

We report a case of bilateral gonadoblastoma caused by xy-type true gonadal dysgenesis. Specific patterns in diagnostics and therapy are discussed. Due to rare entity interdisciplinary cooperation in management is emphasized.

Biokinetic aspects of tissue-bound tritium in algae.

For the estimate of the radiation exposure of man and for the calculation of the risk of artificial tritium from nuclear power plants, organic tissue-bound tritium is of decisive importance. In model experiments, a tritium incorporation of 61 to 71% was found from tritiated water (HTO) into organic matter of planctonic algae under under reproducible conditions and this was related to the theoretical value. In further experiments the tritium release from these high tritiated algae was of interest. Kept in darkness in tritium-free, non-sterile river water, so that autolytic processes and bacterial decomposition could occur, the concentration of HTO was measured over a period of three weeks. A relatively long half-life of tissue-bound tritium was found under various temperature conditions. Therefore it must be considered that a significant retention of tritium in biological matter has to be taken into account in a natural ecosystem. In streams into which the cooling water of a nuclear reactor is released all conditions are found already for a long turnover and cycling of artificial tritium in living organisms as well as the conditions for a favourable transport of tritium by food chains to man.