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.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.     

一个特大城市:墨西哥城大都市区的水资源管理

引言 墨西哥城大都市区(MCMA)位于被称作"墨西哥谷(Valle deMexico)"的天然围合的盆地里,海拔2240m.它下辖联邦区和墨西哥州的34个自治市.墨西哥城是墨西哥的首都,位于联邦区(DistritoFederal,DF),四面环山,海拔高度超过5000m.墨西哥州是墨西哥人口最稠密的地区(据报道有1300万居民),人口仅次于它的是墨西哥城,大约有860万人[1].     

莫桑比克伊尼亚卡岛的珊瑚礁生长:珊瑚群落与1999/2000年南部非洲洪水对其造成的影响

引言 在过去几十年中进行的调查工作使我们对低纬度珊瑚礁的生长有了较清楚的认识.生长在这些环境(往往在温度、盐度和光照方面处于理想的条件下)中的珊瑚虫能够形成在空间上非常重要的珊瑚礁结构.在清澈的水体中,水下100m多的地方都有珊瑚生长[1,2],但据报道,在较浅的地方,碳酸盐净累积速度为0.83～0.91kg CaCO3/m2@a[3,4].     

Foreword

Mitigation and Adaptation Strategies for Global Change -     

Greenhouse Gas Inventory for Land Use Change and Forestry in Finland Based on International Guidelines

Mitigation and Adaptation Strategies for Global Change - Guidelines of the Intergovernmental Panel on Climate Change (IPCC) were used to assess a greenhouse gas inventory for land use change and...