Identification of a novel β0 - thalassaemia mutation in a greek family and subsequent prenatal diagnosis

We present a case in which a Greek couple was considered not to be at risk of having children with homozygous β-thalassaemia, an assessment based largely on the father's belief that he carried α-thalassaemia. After their first child was diagnosed with homozygous β-thalassaemia, the case was re-assessed and both parents were shown to have the haematological profile of β-thalassaemia trait. Screening for the common Mediterranean mutations demonstrated that the mother carries the IVS-1 nt 110 G→A β⁺ -thalassaemia mutation. Direct nucleotide sequencing of PCR-amplified DNA revealed that the father carries a novel β⁰-thalassaemia mutation, frameshift codons 9/10 (+T). The couple's second pregnancy was terminated after prenatal testing revealed that the fetus had inherited both parental mutations. This case illustrates the need to confirm the carrier status of individuals prior to assessing their genetic risks, and highlights the importance of being able to identify rare or novel β-thalassaemia mutations.     

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.     

Fetal renal vein thrombosis,hydrops fetalis,and maternal lupus anticoagulant. A case report

Hydrops fetalis with fetal renal vein thrombosis in a mother with antiphospholipid antibody syndrome detected post-partum suggests an underlying pathogenetic association that may provide new strategies for treatment of a lethal disorder.     

人为因素对社会-生态系统脆弱性和恢复力影响的地理差异

横跨北极的地区,可更新资源和不可更新资源、人口密度、资产投资、住宅与交通基础设施的分布存在着很大差异,这些差异被公认为是研究当前和未来社会-生态系统变化的热点.由于当前政治和经济的稳定,芬诺斯堪的亚地区北部社会-生态系统呈现出相对良好的形势,而俄罗斯北部从苏联解体开始便一直经历着急速且消极的变化,这些变化反映了俄罗斯普遍存在的危机状态.北美洲虽然处在一个相对稳定有序的制度下,采取了一些措施用于防止和减轻与工业有关的环境退化,但大多即将出台的新发展计划仍将会显著扩大社会-生态系统受到潜在影响的空间范围.制度或管理条款与生态系统服务功能对环境变化的缓冲能力紧密相关.无论气候是否变暖,某些地理区域对外来破坏作用表现得特别脆弱,这有可能威胁到这些区域在将来提供产品和服务的能力.尽管某些地区的气候变化有可能会使这种形势恶化,但从长远来看,气候变化也有可能会使其恢复力得到加强.     

Effect of lipid emulsions on production and fatty acid composition of eggs of the scallop<Emphasis Type="Italic"> Argopecten purpuratus</Emphasis>

The impact of supplementing lipid emulsions rich in eicosapentaenoic acid (EmEPA), docosahexaenoic acid (EmDHA) or saturated fatty acids (EmCOCO) to a standard algal diet [3:1 mixture of Isochrysis galbana (T-iso) and Chaetoceros neogracile, St-diet] on Argopecten purpuratus broodstock was evaluated. Broodstock fecundity was compared as well as the egg quality in terms of lipid content, fatty acid composition and lipid class distribution. Fecundity was defined as the number of eggs released in the spawning process, since spawning was virtually complete. Results indicated that the total lipid content of the eggs of A. purpuratus was diet independent. A greater energy reserve was spent on a larger number of oocytes and not on bigger sized oocytes with a higher lipid content. The lipids supplied through the emulsions were at least partially allocated to the eggs, demonstrating that the fatty acid composition of the eggs could be manipulated, especially the neutral lipid fraction. Levels of EPA changed more rapidly than DHA levels, supporting the observation that they fulfilled an energetic and structural role, respectively. The St-diet supplemented with 50%EmCOCO resulted in a significantly higher fecundity compared to the algal diet supplemented with 25%EmEPA+25%EmDHA and the non-supplemented algal diet. It would seem that saturated fatty acids (SAFA) were more easily or preferentially incorporated in the female gonads of A. purpuratus. The relative content of SAFA and 18:2( n-6) in these eggs rose significantly. The relative content of the highly unsaturated fatty acids, EPA and DHA, on the other hand was substantially lower in the neutral lipid fraction, but hardly affected in the polar lipid fraction. It appeared that the maintenance of an adequate DHA/EPA ratio (approximately 1.2) was more important than the absolute levels of the two fatty acids, as long as a threshold value was reached.     

Sustainability Indicators as a Communicative Tool: Building Bridges in Pennsylvania

Sustainability is a laudable goal, but difficult to define and to implement because of the complexity of interlinked human and natural systems, and the uncertainty inherent in such complex systems. Resilience shows promise as a relevant and measurable attribute of sustainability, which itself defies measurement. Identification and assessment of conditions that are desirable, as well as those that are undesirable, are necessary in order to determine both the degree of progress toward sustainability and the removal of impediments to such progress. Communications incident to the identification and selection of indicators of resilience and sustainability are of potentially greater value than the indicators themselves and so should be given explicit consideration in the design of the indicators development process. Moving towards sustainability requires an iterative, continuing (open-ended), collaborative process. Academic institutions can assist in this process through activities that connect across political, social and discipline boundaries. Boundary organizations are those that have achieved a level of trust among the relevant constituents to management of sustainability and can help convert academic findings that are objectively neutral into options and alternatives that may be politically and economically feasible. The Sustainable Pennsylvania Program is developing demonstration projects with both state and local governmental agencies with the objective of building both capacity and will for moving towards sustainability.     

Remote measurement of NO2 in the brown cloud over Albuquerque,New Mexico

Remote measurements of nitrogen dioxide (NO₂) were recorded in the brown cloud over Albuquerque, NM, using absorption spectroscopy in the winter of 1987-88 and summer of 1989. The NO₂ burdens (optical densities) measured in this manner were found to be in excess of 100 ppm-m. These long pathlength measurements correspond to total concentrations of approximately 5–10 ppb over the integrated observation pathlengths, which ranged from 10–20 km. These concentrations compare well with single location, independent NO _x analyses. Using two correlation (absorption) spectrometers simultaneously, it was shown that the NO₂ distribution is not uniform over the city and can change on the order of minutes in the boundary layer late in the day, demonstrating the advantages of NO₂ optical measurements for assessing the location and extent of urban nitrogen dioxide levels in the boundary layer.     

EFFECT OF THE PAPER INDUSTRY ON WATER QUALITY OF THE LOWER FOX RIVER1

ABSTRACT: The Lower Fox River, Wisconsin, hosts the densest concentration of paper mills in the US., with 18 located along a 4Gde stretch between Lake Winnebago and Green Bay, Lake Michigan. Some of these companies use only primary, others also secondary, waste treatment techniques. Comparison of the quantities of wastes discharged with the legal limits indicates that all plants discharge only 40-50 percent or less of the allowable suspended solids; most discharge < 50 percent of the allowable BOD. This is equal or better than the performance of paper companies elsewhere in the state. Reductions in pollutant discharges have corresponded to improved water quality, though too much BOD is still discharged to be adequately assimilated by the Fox River. The relatively low current level of discharges means permit levels would have to be drastically cut to make any significant impact on water quality. Only a few companies might be seriously affected by such changes. Flow and temperature related permits would likely be more effective, but more difficult to comply with for the industry. Toxic substances are also a potential problem, particularly chlororganic compounds that can form in situ from the chlorine frequently used for pulp bleaching.