Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.     

Prenatal exclusion of stickler syndrome

Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3·91 at θ=0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.     

Methods for project-based mechanisms (JI/CDM)—relevance of IPCC inventory guidelines

A baseline for a project consists of estimates of annual emissions of greenhouse gases (GHG) for a given time period without implementing the project. A general three-step process for determining the baseline is suggested. The emission reduction of the project is given by the difference between the baseline and the monitored annual emissions. A preferred method, direct measurement of the emission reduction, is possible for some types of projects. Methods for estimating the annual baseline emissions are not necessary for the latter category, and a definition of this project category is suggested. IPCC Guidelines for National GHG Inventories categorise the emission sources so that only direct emissions from consumption of fuel and feedstock are calculated. There are thus no emission factors for indirect emissions (e.g. electricity consumption or km transported) or emission factors that depend on technology only, independent of consumption of fuel and feedstock. Technology-dependent emission factors may thus need to be developed for estimating indirect emissions and multi-project baselines. Consistency should be sought with the IPCC Guidelines when estimating annual baseline emissions and in monitoring project emissions to ensure comparability with the National Inventories.     

Activities of alkaline phosphatase in first trimester chorion biopsy tissue

We have determined the activity of alkaline phosphatase in chorionic villous tissue obtained in the first trimester of pregnancy, in order to obtain the normal range of values as a prerequisite for application to the prenatal diagnosis of the rare bone disease hypophosphatasia. The activities found were a combination of intestinal and liver/bone/kidney types; traces of placental type were present in only one sample.     

Mitigation and Adaptation Strategies for Global Change Editorial Policy Update

Mitigation and Adaptation Strategies for Global Change -     

博茨瓦纳欧科范果湿地1972～2000年泛滥方式

欧科范果三角洲地区泛滥范围年年在变化.这种变化与安哥拉高地集水区的区域性降水及当地降雨量有关.我们采用了1972～2000年的3000多幅卫星图像来描绘湿地的格局,其中从1985～2000年的图像几乎是NOAAAVHRR每日连续传送的,1972年以来的其它图像是从Landsat传感器上传下来的,其连续性次之.对AVHRR图像每10天为一期,用无监督分类方法分成陆地和水体.对LandsatTM和ERS2-ATSR数据进行分析的结果,与测算的淹没区域89%相吻合.结果显示欧科范果湿地近期30年期间的变化约在2450～11400km2之间.