Prenatal diagnosis of the hurler syndrome: Report on 40 pregnancies at risk

In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an α-L -iduronidase deficiency and an increased level of ³⁵S-sulphate incorporation. The diagnoses were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for α-L -iduronidase, using phenyl α-L -iduronide and more recently 4–methyl-umbelliferyl α-L -iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. ³⁵S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.     

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Prenatal diagnosis of Freeman–Sheldon syndrome (whistling face)

The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.     

Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

Assessment and management of fetal agenesis of the corpus callosum

Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis until now has been so uncertain. We have reviewed the current world English literature to provide the best probabilistic information for prospective parents. In total, there are 70 cases where the diagnosis was made prenatally. The diagnosis of apparently isolated agenesis of the corpus callosum (in the absence of other sonographically detectable anomalies) appears to carry an excellent prognosis, with an 85 per cent chance of a normal developmental outcome and a 15 per cent risk of handicap. Fetal karyotyping is recommended as there is a 1 in 10 risk of aneuploidy. If other anomalies are detected prenatally, the outcome is very poor. Termination of pregnancy is advised in these circumstances.     

Attitudes to prenatal screening,diagnosis and research among pregnant women who accept or decline an alpha-fetoprotein test

The aim of the study was to describe the opinion of pregnant women who had accepted or declined an alpha-fetoprotein (AFP) test, not only on AFP screening in general, but also on whether every pregnant woman should be offered amniocentesis (AC)/chorionic villus sampling (CVS) and an ultrasound scan for fetal malformations. An additional aim was to describe pregnant women's attitudes concerning continued research in the prenatal field. The study was performed as a questionnaire study in two regions over a 1-year period from 1 October 1988 to 30 September 1989. Results are based on answers from 3331 women who had taken an AFP test and 336 women who had declined the offer of a test. A total of 79 per cent of the women thought that an AFP test, 70 per cent that an ultrasound scan for fetal malformations, and 26 per cent that AC or CVS should be offered to all pregnant women. Fifty-nine per cent of the women were positive towards continued research in the prenatal field. Women who had had an AFP test were generally much more positive towards screening and research than women who had declined, who were generally against. Women who had left school without a high school degree were on average more positive towards the screening issues than women who had this degree. In conclusion, the results obtained in this study strongly suggest that women's attitudes are very dependent on how the prenatal screening programme is already organized in their local area.     

对生活垃圾焚烧产物中重金属的探讨

以成都某生活垃圾焚烧厂为例,通过实验分别研究了焚烧产物中各主要重金属的含量和浸出毒性,由此分析了生活垃圾焚烧产物中的重金属对城市环境的危害。结果表明,该生活垃圾焚烧厂排放的飞灰和炉渣样品中,镉,铜,铅,锌的含量接近或超过国家土壤环境质量标准三级标准,其浸出液pH呈强碱性,镉和飞灰中铅量超过国家浸出液中危害成分浓度限值标准,在环境中存在潜在危害性。在此基础上探讨了生活垃圾中重金属的来源,提出了可行性建议。     

Influence of aeration intensity on the performance of A/O-type sequencing batch MBR system treating azo dye wastewater

Among the numerous parameters affecting the membrane bioreactor (MBR) performance, the aeration intensity is one of the most important factors. In the present investigation, an anoxic/aerobic-type (A/O-type) sequencing batch MBR system, added anoxic process as a pretreatment to improve the biodegradability of azo dye wastewater, was investigated under different aeration intensities and the impact of the aeration intensity on effluent quantity, sludge properties, extracellular polymeric substances (EPS) amount generated as well as the change of permeation flux were examined. Neither lower nor higher aeration intensities could improve A/O-type sequencing batch MBR performances. The results showed 0.15 m³·h⁻¹ aeration intensity was promising for treatment of azo dye wastewater under the conditions examined. Under this aeration intensity, chemical oxygen demand (COD), ammonium nitrogen and color removal as well as membrane flux amounted to 97.8%, 96.5%, 98.7% and 6.21 L·m⁻²·h⁻¹, respectively. The effluent quality, with 25.0 mg·L⁻¹COD, 0.84 mg·L⁻¹ ammonium nitrogen and 8 chroma, could directly meet the reuse standard in China. In the meantime, the sludge relative hydrophobicity, the bound EPS, soluble EPS and EPS amounts contained in the membrane fouling layer were 70.3%, 52.0 mg·g⁻¹VSS, 38.8 mg·g⁻¹VSS and 90.8 mg·g⁻¹VSS, respectively, which showed close relationships to both pollutant removals and membrane flux.     

Pastoral farmland habitat diversity in south-east Ireland

In this study, habitat surveys were undertaken on 50 grass-based farms in SE Ireland and data digitised onto aerial photography. Additional data i.e. stocking rates, and participation (or otherwise) in the Irish Rural Environment Protection Scheme (REPS) were collected and analysed as possible explanatory variables for farm habitat composition.Results indicated that approximately 14.3% of the land area of sampled farms comprised of semi-natural habitat types, a proportion substantially greater than has been reported for many other European countries. The most frequently recorded semi-natural habitats included, field boundaries, scrub, and deciduous and riparian woodlands.Multivariate analysis of farm habitat configuration showed a strong dichotomy between dairy and non-dairy farming systems. Habitats such as intensively managed grassland and built ground were closely associated with dairy-based enterprises. In contrast, the incidence of other habitat types was associated with non-dairy and/or REPS participating enterprises. The ecological quality of field boundaries as assessed by the Field Boundary Evaluation and Grading System (FBEGS) Index was significantly greater on dairy, compared with dry-stock farms.This dichotomy in farm habitat composition is not reflected within current Agri-Environment (AE) policy. Integration of locally important drivers of habitat diversity into the design and implementation of AE policy, is integral to the successful performance of AE schemes.     

Critical perspectives of sustainable development research and practice

Sustainable development has been intensely debated for more than twenty years, but real progress of our societies to become more sustainable is very slow. Therefore this special issue provides a forum for critical perspectives of Sustainable Development Research and Practice. The papers are grouped into three clusters: a. Sustainability Science, b. Economic Problems and c. Corporate Contributions to Sustainable Development.Although a single special issue cannot address the entire array of issues pertaining to progress of sustainability related research, the selected papers highlight special aspects of sustainability research either due to their theoretical contributions or because they report on valuable empirical evidence. The main goal of sustainability research should be to contribute to our understanding of sustainability problems and to develop and help to implement solutions to solve them. This can be described as the relevance of sustainability research. A precondition to gain relevance is the rigor of sustainability science: it has to be based on solid scientific principles and methods. Additionally it has to be regarded that Sustainable Development is dynamic and that it has both normative and practical aspects. It is concluded that sustainability science and practice should be based upon these four central aspects: rigor, relevance, normative aspects and dynamic