First-trimester maternal serum biochemical indicators in Down syndrome

A set of 21 early maternal serum samples (19 first-trimester and two at 14 weeks) from pregnancies resulting in a child with Down syndrome was matched for gestation and length of storage with 63 samples from unaffected pregnancies. The concentrations of alpha-fetoprotein (AFP), unconjugated oestriol (uE₃), human chorionic gonadotrophin (hCG), pregnancy-specific β₁–glycoprotein (SP₁), and placental alkaline phosphatase (PALP) were measured. The ratios of the medians for Down syndrome pregnancies compared with the medians for controls were AFP 0·71, uE₃ 0·67, hCG 1·43, SP₁ 0·79, and PALP 0·92. Although the differences between the medians for affected and unaffected pregnancies were not significant, the trends for AFP, uE₃, and hCG confirm earlier findings on first-trimester samples.     

Allele frequencies and molecular diagnosis in haemophilia A and B patients from russia and from some Asian Republics of the former U.S.S.R.

RFLP analysis of some intra- and extra-genic polymorphic sites of Factor VIII (FVIII) and Factor IX (FIX) genes with relevant DNA probes or by polymerase chain reaction (PCR) was carried out in Slavic populations from the European part of Russia and also in the native ethnic groups of Uzbekistan and Kazahstan. The allele frequencies for the HindIII (intron 19) and XbaI (intron 22) polymorphic sites (PSs) in the FVIII gene were very similar in the two populations studied, but different for the intron 13 (CA)n repeat. Significant variations in the TaqI (intron d) and DdeI (intron a) polymorphisms of the FIX gene were evident between the Russian and Asian populations. Two unusual alleles (4·35 and 4·2 kb) for the extragenic PS St14/TaqI were registered in Slavs and one new allele (380 bp) for the DdeI polymorphic site of FIX was discovered in both Asian populations. Altogether, 210 haemophilia A (HA) and 24 haemophilia B (HB) families were subjected to molecular studies. So far, 160 HA and 12 HB families have been found to be informative for DNA analysis. Carrier status was ascertained in 42 HA and 6 HB female relatives, and rejected in 52 and 10 of them, respectively. The origin of some HA and HB mutations was traced with relevant polymorphic markers in several at-risk families. Prenatal diagnosis was accomplished in 28 HA and three HB families, resulting in the identification of 20 affected male fetuses.     

Conservation of building materials and the future of the built environment

Building uses a combination of materials resources ranging from clay to bronze. Some of these resources are widely available, but require substantial energy resources to process and distribute them as the volumes used are so great. Other resources, like copper, are in much smaller supply. The resources used in building need to be examined against the future resource limitations in their supply and the possibilities of recycling. The links between building and waste cycles will also be critical, as wastes from other processes can often be incorporated into the building process. Design for recycling has to be balanced against the advantages of design for longer life. Reversible cementitious processes could confer enormous advantages if the reversibility was safely controllable, but this represents a very formidable scientific problem. The advantages of composite materials need to be balanced against the difficulties of effective recycling, for example reinforced concrete. The building as an energy conservation device also needs more emphasis. The final section deals with the concept of the materials conservation city in a Utopian way. It is designed to stimulate constructive thinking about resource conservation and materials recycling.     

A statistics-based system for treatment plant operation

This paper describes work toward development of a convenient computer system to improve everyday operation and control of the wastewater treatment process. The goal is to help the operator detect the problems in the process and to select appropriate control actions. The system comprises subsystems for a data base management, data analysis including several statistical methods, and an expert advisory system. The statistical methods investigated include construction of external reference distributions, computation of moving averages, graphical methods, discriminant functions for early detection of upsets, and several kinds of control charts. The latter two methods are still under development and are not built into the system. Reference distributions are used to help define the fuzzy terms such as high and low for the conditions of the variables involved in the expert system control rules. The system is written in dBase-III and Lotus-123 and has a user-friendly interface for the communication between the user and the system.     

Immunocytochemical localization of peroxisomal β-oxidation enzymes in human fetal liver

In the majority of congenital peroxisomal disorders, β-oxidation of very long chain fatty acids is deficient. We have investigated the appearance and localization of the three peroxisomal β-oxidation enzymes in normal fetal liver (fertilization age between 5 and 18 weeks) with protein A- gold immunocytochemistry and silver enhancement for light microscopic visualization. With specificity-tested polyclonal antibodies, acyl-CoA-oxidase, bifunctiooal enzyme, and 3-oxoacyl-CoA thiolase were localized in the peroxisomes of the parenchymal cells, which appear as brown or black granules. In the youngest specimen, no immunopositive reaction was obtained. A weak reaction with anti-thiolase was obtained at the age of 6–7 weeks. At a fertilization age of 8 weeks, peroxisomes could be distinctly visualized after immunostaining for all three enzymes. From a staining series with anti-thiolase on simultaneously treated slides, it appears that the amount of antigen per peroxisome and the organelle size increase between the seventh and eighteenth weeks. These data should enable a more specific diagnosis in fetal liver biopsies from pregnancies at risk and after termination of pregnancy.     

Prenatal prediction of duplication 10q24→qter by gene dosage of GOT1 on uncultured amniotic cells

Glutamic-oxaloacetic transaminase (GOT1) gene dosage studies were performed on uncultured amniotic cells from a fetus at risk for duplication/deficiency of 10q24→qter, due to maternal translocation t(9;10)(p24;q24). Previous investigations in the same pedigree had shown triplex dosage effect of GOT1 on red blood cells of a 10q24→qter trisomic fetus monitored by midtrimester amniocentesis. In the present pregnancy, the GOT1 activity of amniotic cells exhibited a triplex gene dosage, suggesting duplication of region 10q24→qter in the fetus. The biochemical prediction was confirmed two weeks later by cytogenetic analysis.