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211.
Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.  相似文献   
212.
We report herein a de novo unbalanced chromosome translocation in a fetus resulting from in vitro fertilization technology. Prenatal diagnostic analysis of an amniotic fluid revealed a 46,XX,4p+ karyotype. The origin of the extra material on the short arm of chromosome 4 could not be identified by a variety of banding techniques. However, examination of fetal parts did reveal some dysmorphic features.  相似文献   
213.
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.  相似文献   
214.
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.  相似文献   
215.
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].  相似文献   
216.
With the advent of more stringent controls on wastewater treatment, sewage sludge production in Europe and many parts of the world is increasing. With this increase comes the problem of sludge disposal, and recycling to land arguably offers an economically and environmentally sustainable option. However, a major limitation of sewage sludge reuse is the potential release of heavy metals from the sludge and heavy metal accumulation to toxic levels in topsoils. The properties of the sludge play a crucial role in determining the initial release and subsequent availability of heavy metals in amended soils. Bioavailable forms of heavy metals in recently amended soils are most likely to be those that are bioavailable in the sewage sludge. In this paper, published research on the importance of sewage sludge characteristics on metal release and bioavailability will be reviewed and contrasted with original research. A selection of sludges from around Australia has been collected for this purpose. Through the use of incubation studies, isotope dilution techniques, ion-selective electrode measurements and 13C-NMR spectroscopy, the importance of a range of sludge properties on heavy metal behaviour in sludges and sludge-amended soils is addressed.  相似文献   
217.
Gamergates (i.e. mated reproductive workers) are mostly known from ant species within the Ponerinae. We report here the discovery of gamergates in two species of the subfamily Myrmicinae. Until now, mated reproductive females in colonies of myrmicine species have been considered morphologically distinct from the worker caste. However, in two species of the myrmicine Metapone (Metapone madagascarica and a newly discovered, not yet described Metapone species) all workers have six ovarioles and a spermatheca; and some of them are mated. There are no morphological differences between mated and non-mated workers. Field observations and laboratory studies indicate that colonies of the Metapone species can reproduce with gamergates only.  相似文献   
218.
Although amphibians are highly vocal, they generally emit only a limited number of acoustic communication signals. We report here the extraordinarily rich vocal repertoire of Amolops tormotus, a ranid species in China. These frogs produce countless vocalizations, some of which share features of birdsong or primate calls, e.g., ultrasonic frequency components, multiple upward and downward FM sweeps, and sudden onset and offset of selective harmonic components within a call note. Frame-by-frame video analysis of the frog's calling behavior suggests the presence of two pairs of vocal sacs that may contribute to the remarkable call-note complexity in this species. Electronic supplementary material to this paper can be obtained by using the Springer LINK server located at http://dx.doi.org/10.1007/s00114-002-0335-x.  相似文献   
219.
220.
In this study, an inventory of air pollutant emission estimates from major air polluting sources in Turkey for period between 1985 and 2005 with 5-year intervals were estimated. Inventory covers anthropogenic sources of five major air pollutants of particulate matter, sulfur dioxide, carbon monoxide, nitrogen oxides and non-methane volatile organic compounds. Their break-down with respect to main activity sectors were shown and their distribution by the largest industrial source categories were worked out as annual estimates. This inventory and its analysis point to serious environmental implications of air pollutants and a need to develop a policy plan for reducing these emissions.  相似文献   
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