Peri- and paracentric inversions in chromosome 12: Prenatal diagnosis and family study

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1·9 per cent. The clinical implications of these findings are discussed.     

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.     

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

CO2 reaction with Ca(OH)2 during SO2 removal with convective pass sorbent injection and high temperature filtration

The Kyoto Protocol calls for greenhouse gas emission reductions which could affect the use of coal for producing electricity. Carbon credits are being explored as a method for countries to meet their reduction commitments. Carbon dioxide removal in flue gas desulfurization (FGD) systems should be considered if and when the concept of carbon credits are implemented. This paper addresses the factors affecting sulfur dioxide removal, including the reaction of carbon dioxide, occurring during convective pass sorbent injection with high temperature filtration for a typical coal-fired power plant. Significant carbonation is found to occur, and the levels are found to depend on injection/filtration temperatures and the residence time on the filter. Ca/S stoichiometry during sorbent injection is found to affect not only the sorbent conversions in the convective pass sorbent injection stage but also the final sorbent conversions in the filtration stage. Even though high sorbent carbonation hinders the sorbent utilization for SO₂ removal, slight alterations in CO₂ concentration are found to have no significant effects on the SO₂ removal of the process.     

Deriving environmental quality standards in European surface waters: when are there too few data?

Recent technical guidance has been published by the European Commission that outlines methodologies for the derivation of Environmental Quality Standards (EQS) in European surface waters under the Water Framework Directive (WFD). The guidance allows the derivation of a long-term EQS from a small dataset. Specifically an EQS can be derived from just three acute data points, although the safety factors built into such an EQS are large (e.g. up to a factor of 1,000). Large safety factors make such EQS uncertain, and often difficult to achieve in practice. We examine dataset requirements for the derivation of EQS and specifically the minimum number of tests needed for setting EQS for long-term chemical exposures that result in reduced relative uncertainty, as assessed simply through the reduction in standard deviation of the means of the values derived. Using ecotoxicity datasets for four example chemicals, for which EQS have been derived in many jurisdictions, we show that variation in the EQS is greatest when using the minimum dataset allowable under the WFD guidance, but decreases rapidly when seven or more datapoints are available. Increasing the minimum number of ecotoxicity data in deriving an EQS results in a greater understanding of ecotoxicological effects. With this knowledge, the mitigating effects of water chemistry can be accounted for in deriving an EQS, even with relatively limited datasets. The new guidance suggests “simplistic” approaches to account for chemical availability, but does not detail how this might be undertaken. We provide examples of ways by which water chemistry effects can be included in deriving implementable EQS for metals with relatively few reliable and relevant data.     

Nutrient and enzymatic changes of hydrolysed tannery solid waste treated with epigeic earthworm Eudrilus eugeniae and phytotoxicity assessment on selected commercial crops

Animal fleshing (ANFL) is the predominant proteinaceous solid waste generated during processing of leather and it is confronting disposal problems. The aim of this study was to assess the potential of epigeic earthworm Eudrilus eugeniae to utilize and transform the fermented ANFL in the solid state (SSF) and submerged state (SmF) into a value added product along a low residence period (25 days). A total of six treatment units containing different waste mixture compositions were established. Fifty healthy and non-clitellated earthworms were introduced in three different treatment containers: control, SSF, and SmF (+worm). Another set of treatment mixtures (control, SSF, SmF) was established without earthworms (?worm) to compare the results. The products were characterized for physico-chemical, enzymatic analysis and seedling growth parameters to compare the differences in the process with and without earthworms. The changes observed in the analytical parameters were in the following order: SSF > SmF > control mixtures (p?<?0.05). The vermicompost showed a significant reduction in heavy metals, total organic carbon and an increase in total Kjeldhal nitrogen as compared to the product untreated by earthworms. The maximum enzymatic activities were observed after 21 days of vermicomposting. The relative seed germination of vermicompost extracts were in the order of tomato (Lycopersicon esculentum) > green gram (Vigna radiata) > cucumber (Cucumis sativus) > bottle gourd (Lagenaria siceraria (Mol.) Standl.) and showed no phytotoxicity effects. The results indicated that the combination of both ANFL hydrolysis through fermentation and vermicomposting is a good alternative to the management of this kind of waste.