Prenatal diagnosis of infantile GM 2 gangliosidosis type II (sandhoff disease) by detection of N-acetylglucosaminyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography

Prenatal diagnosis of Sandhoff disease (infantile onset) at 16 weeks gestation has been made by detection and analysis of N-acetylglucosaminyl-oligosaccharides in amniotic fluid using high performance liquid chromatography. The elution profile for the branched chain oli-gosaccharides was identical with that obtained with neonatal and infantile Sandhoff urine. The concentration of the oligosaccharides in the fluid was 1/100th that of urine but when calculated relative to creatinine the levels were similar. No oligosaccharides were detected in normal control amniotic fluids (10 patients) at a similar gestational age. Based on the levels of the amniotic fluid oligosaccharides and the sensitivity limits of the assay, prenatal diagnosis of patients with the juvenile onset form of the disease may also be possible with this technique.     

Prenatal diagnosis of cystic fibrosis using linked DNA probes

This paper presents data collected in Europe on 107 prenatal diagnoses of cystic fibrosis (CF) using linked DNA markers. To date, 38 children have been born without CF, as predicted, demonstrating the present rapid move from research to clinical genetic service.     

First-trimester prenatal diagnosis of Sanfilippo C disease

At 10 weeks' gestation, chorionic villus biopsy was obtained from a woman at risk for Sanfilippo type C disease. Acetyl-CoA: α-glucosaminide N-acetyltransferase activity was markedly deficient. The pregnancy was terminated at 12 weeks' gestation and follow-up study on fetal fibroblasts confirmed the diagnosis.     

Protozoan colonization on artificial substrates in relation to water quality in a tropical Indian harbour.

A field study was conducted to evaluate the protozoan colonization patterns on artificial substrates in relation to organic pollution within a tropical harbour. The composition of protozoans and their succession rates on artificial substrates(polyurethane foam units) were compared between two field stations(A and B), and their presence were considered with regards to the prevailing water quality conditions at the study sites. Altogether 44 genera of flagellates and ciliates were documented. The common genera of flagellates encountered included Monas, Polytoma, and Chromalina. Among the ciliates, the predominant genera were Tetrahymena, Vorticella, Lagymophyra, and Heloiphyra. These groups exhibited characteristic successional patterns in relation to ambient water quality. At Station A, located close to the sewage outfall, the water quality parameters included poor Secchi-disc transparency(0.48 m), dissolved oxygen of 1.93 mg/ml, salinity of 18 psu, and temperature 31.3 degrees C. Here, the nanoflagellates (spumella) colonized first, followed by microcilliate(Tetrahymena) and sessile form(Vorticella). Station B, located on the seaward side, was characterized by relatively less-stressed environmental conditions with transparency 1.85 m and dissolved oxygen value of 6.04 mg/ml. Salinity of 27.27 psu, and mean temperature of 30 degrees C were recorded at "B". At this station, the nanoflagellate Polytoma was first documented to colonize on the substrates, followed by microcilliate(Lagynophrya) and suctorid(Heliophyra). These findings support the use of protozoans as indicator species for evaluating the hazards posed by organic pollution to natural estuarine communities.     

Evaluation of the biodegradability of copolyesters containing aromatic compounds by investigations of model oligomers

Model oligo esters of terephthalic acid with 1,2-ethanediol, 1,3-propanediol, and 1,4-butanediol have been investigated with regard to their biodegradability in different biological environments. Well-characterized oligomers with weight-average molar masses of from 600 to 2600 g/mol exhibit biodegradation in aqueous systems, soil, and compost at 60°C. SEC investigations showed a fast biological degradation of the oligomer fraction consisting of 1 or 2 repeating units, independent of the diol component used for polycondensation, while polyester oligomers with degrees of polymerization higher than 2 were stable against microbial attack at room temperature in a time frame of 2 months. At 60°C in a compost environment chemical hydrolysis also degrades chains longer than two repeating units, resulting in enhanced degradability of the oligomers. Metabolization of the monomers and the dimers as well by the microorganisms could be confirmed by comparing SEC measurements and carbon balances in a Sturm test experiment. Based on these results degradation characteristics of potential oligomer intermediates resulting from a primary chain scission from copolyesters consisting of aromatic and aliphatic dicarbonic acids can be predicted depending on their composition. These results will have an evident influence on the evaluation of the biodegradability of commercially interesting copolyesters and lead to new ways of tailor-made designing of new biodegradable materials as well.