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.     

社会和谐与可持续发展

本文运用系统科学原理阐释了社会和谐的内涵,指出社会和谐须以人与自然和谐为基础,以人与人之间的平等、友爱和同合作为表征,其构建与实现应遵从人类社会的演化规律,依赖予在把握人类社会需求演绎、协同人与自然关系的基础上推动生产力的高效有序发展和自然资源、生态环境的可持续支持.进而从可持续发展角度,提出了人与自然和谐的"双剩余理论",以揭示其间的供瓣枧理和协同准则;推导出了社会收益分配的相对公平系数,以衡量人与人公平要求下的社会和谐.针对国情和战略目标要求,提出了以加强小城镇建设为轴心的城市、小城镇与农村人流、物流、财流和信息流合理聚散的"三元结构"发展模式,以促进我国和谐社会的建设和可持续发展战略的有序实践.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

搞好生态建设,转移农村剩余劳动力

大量闲置劳动力会造成巨大生态压力,加剧生态退化,但只要转移消化得当,便能化为强大的力量和优势。本文从区域→行业→企业→家庭→生态建设联合体五个层次和角度,对各种有效的和有可能的转移消化闲置劳动力生态建设途径进行了探索。     

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

Dynamics and Causation of Environmental Equity, Locally Unwanted Land Uses, and Neighborhood Changes

/ Why are some environmental risks distributed disproportionately in the neighborhoods of the minorities and the poor? A hypothesis was proposed in a recent study that market dynamics contributed to the current environmental inequity. That is, locally unwanted land uses (LULUs) make the host communities home to more poor people and people of color. This hypothesis was allegedly supported by a Houston case study, whereby its author analyzed the postsiting changes of the socioeconomic characteristics of the neighborhoods surrounding solid waste facilities. I argue that such an analysis of postsiting changes alone is insufficient to test the causation hypothesis. Instead, I propose a conceptual framework for analysis of environmental equity dynamics and causation. I suggest that the presiting neighborhood dynamics and the characteristics of control neighborhoods be analyzed as the first test for the causation hypothesis. Furthermore, I present theories of neighborhood change and then examine alternative hypotheses that these theories offer for explaining neighborhood changes and for the roles of LULUs in neighborhood changes. These alternative hypotheses should be examined when analyzing the relationship between LULUs and neighborhood changes in a metropolitan area. Using this framework of analysis, I revisited the Houston case. First, I found no evidence that provided support for the hypothesis that the presence of LULUs made the neighborhoods home to more blacks and poor people, contrary to the conclusion made by the previous study. Second, I examined alternative hypotheses for explaining neighborhood changes-invasion-succession, other push forces, and neighborhood life-cycle; the former two might offer better explanation.KEY WORDS: Environmental equity and justice; Locally unwanted lane uses; Siting; Market dynamics; Invasion-succession; Neighborhood changes     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

Paleoecology and dynamics of forest ecosystems in Central Evenkia during the past 2400 years

New data on the composition of surface assemblages of plant macroremains from soil and swamp samples have been obtained in the study of geomorphologically different localities in the middle reaches of the Nizhnyaya Tunguska River. The results of paleocarpological analysis of forest soil sections supported by relevant palynological and geochronological data are presented. Natural changes of the forest cover over the past 2400 years and quantitative characteristics of the paleoclimate during each stage are described.Translated from Ekologiya, No. 1, 2005, pp. 3–10.Original Russian Text Copyright © 2005 by Koshkarova, Koshkarov.