Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.     

长江三峡地区坡地发育初步研究

坡地发育是地貌学研究的基本问题之一。三峡地区坡地发育的研究对三峡库岸稳定性的评估和三峡移民的土地开发具有十分重要的意义。首先从概括坡地发育的研究进展，阐述科学家们对坡地发育的不同看法入手，引出三峡地区坡地发育的特殊性。初步研究三峡地区的坡地发育具有分段式分进的特点，包括中山峰陡坡的剥蚀后退过程，山顶缓坡的风化剥蚀夷平的过程，上段斜坡的片流坡地侵蚀过程，下段陡坡的剥坡后退过程，山麓堆积缓坡的剥蚀过程等。通过分析三峡地区坡地的五种坡段的成因、现状、发展趋势以及它们对三峡库区的稳定性和三峡移民的土地开发的影响，预测未来的三峡库岸，大部分为剥蚀陡坡，部分为崩塌滑坡陡坡，三峡沿岸城镇开发建设的重点将是库岸有坡地的防护工程。     

In situ assessment of modification of sediment properties by burrowing invertebrates

Benthic organisms can significantly alter the physical properties of marine sediments, but it has hitherto been difficult to assess and quantify the effects of bioturbation. In situ geophysical techniques offer new methods for measuring these effects: measurement of acoustic shear-wave velocity and electrical resistivity allows nondestructive assessment of the properties of the grain framework and pore-fluid matrix, respectively, of the seabed sediment. The influence of burrowing invertebrates on the structural properties of sandy sediments at intertidal locations on the coast of Wales (UK) was investigated during the periol 1986–1987 using these techniques. Three species (Arenicola marina, Corophium arenarium and Lanice conchilega) were selected on the basis of their contrasting styles of burrow construction. All three species produced measurable and significant, although different, changes in bed properties. They modified shear-wave propagation through the bed by changing bed rigidity: while A. marina and C. arenarium decreased rigidity by creating open burrows, L. conchilega increased rigidity by building shell-lined tubes. All produced a decrease in electrical resistivity by altering porosity and/or tortuosity, which implies an increase in permeability; these changes were attributable not only to the presence of the burrows but also to modification of the between-burrow sediment texture and bed properties.     

公园游客管理概念的演变

要保护公园的生态、社会、经济和文化价值 ,游客管理具有根本的重要性 . 政府要求公园进一 步在财政上自给自足 . 正在制定一个更加完善的管理方法代替单纯地限制游客的数量 . 这种 方法鼓励公众参与公园的目标设定和游客满意度评价 ,并奖励胜任的财务管理 .     

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.