Prenatal diagnosis of spinal muscular atrophy in Russia

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.     

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.     

False-negative amniotic fluid acetylcholinesterase in a case of meningo-encephalocele

We describe a patient with a significantly elevated serum alphafetoprotein (AFP) concentration at 17 weeks of gestation, who showed only a marginally increased amniotic fluid AFP and lacked the second rapidly migrating band of acetylcholinesterase electrophoresis. Ultrasound examination revealed an encephalocele and ventriculomegaly. Autopsy showed that the encephalocele was not covered by skin.     

A Framework for Monitoring and Evaluating Carbon Mitigation by Farm Forestry Projects: Example of a Demonstration Project in Chiapas,Mexico

Mitigation and Adaptation Strategies for Global Change - In Mexico an estimated 4.5 × 106ha are available for farm forestry, while up to 6.1 × 106 ha could be saved from deforestation by...     

近期和长远时段内北极生态系统结构受到的影响

生物在物种水平上对全球气候变暖和紫外线B(UV-B)辐射增强的反应受到其群落内其他物种以及生态系统内养分循环的调节,所有的这些反应将会导致生态系统结构的变化.根据高纬度地区坏境因子的可能变化而做的控制试验表明,由夏季变暖而引起苔原植被的变化要小于增加施肥而引起的变化,试验涉及的某些环境因子对北极生态系统的结构有非常强烈地影响,但是这些影响因地区而异,观测结果表明,处于最寒冷地区的植物群落和无脊椎动物群落对全球气候变暖和紫外线B辐射的增强反应最为强烈.尽管微生物量和养分储存量相对稳定,北极无脊椎动物群落还是很可能会对全球变暖产生迅速的反应.试验结果显示,加强紫外线B辐射会改变革兰氏阴性细菌和真菌的群落组成结构,但不会对植物群落的组成产生影响.由夏季气温升高而提高的植物生产力将会控制食物网的动态变化,以苔原植被和亚极地森林植物为基础的食物网中的营养流动会明显地影响到几种优势动物种群数量的周期性波动,在某些年分这些动物的种群数量会达到峰值.小型啮齿动物和食叶昆虫如秋毛虫种群数量的周期性变化则会影响苔原和森林苔原植物的组成结构和多样性,同时也会影响到一些专性捕食者和寄生虫的变化.在暖冬,雪表形成冰壳可能会减少旅鼠的植物食物来源,然而较深的雪也可以使它们免受雪地表面上捕食者对它们的捕食.在芬诺斯堪的亚地区,已有证据表明小型啮齿类动物群落结构和种群动态的显著变化会导致专门以小型啮齿类动物为食物的捕食者的数量减少.气候还可能改变昆虫在白桦森林生态系统中的作用,因为暖冬可以增加这些昆虫卵的成活率,并且扩大其分布范围.此外,在夏季困扰驯鹿的昆虫会由于夏季气候的变暖而扩大其分布范围、增加种群数量并且种群更为活跃;同时在另一方面也会对驯鹿不利,即那些昔日驯鹿/北美驯鹿的避难场所--冰川和未融的成片的雪--在这样温暖的夏季则可能会消失.     

Pitfalls in the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.