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.     

Rapid fetal karyotype from cystic hygroma and pleural effusions

Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 10⁶ cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10⁶ cells/ml.     

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.     

基于生态系统服务理论内涵的山水林田湖草生态保护修复实践——以河南省南太行地区试点工程为例

科学实施山水林田湖草生态保护修复是生态文明建设的重要内容。将提升生态系统服务功能与山水林田湖草生态保护修复工程相结合,以国家第三批山水林田湖草生态保护修复试点项目——河南省南太行地区试点工程为例,探索以提高生态产品供给能力、维护生态安全为目标的南太行地区山水林田湖草生态保护与修复工程实践。地区区位特征及生态环境问题分析表明,南太行地区近年来生态系统服务价值整体呈下降趋势且生态环境破坏严重,许多矿山生态破坏和环境污染历史遗留问题亟待解决,生物多样性保护现状堪忧。以区域突出生态环境问题与主要生态功能定位为依据,按照“格局优化、系统稳定、功能提升”的目标,明确了南太行地区生态保护修复“一山一渠两流域”的总体布局与绩效目标,将其划分为5个生态功能区和7个工程治理区,根据不同功能区和治理区分别提出修复方案和工程治理措施。工程试点方案实施1年多,各项绩效目标完成进度较好,实现了生态效益、经济效益和社会效益的良好结合。     

Uncertainty-based quantitative assessment of sustainability for higher education institutions

Evaluation of sustainability in various facets of life is gaining increasing importance. Traditionally, different multi-criteria decision-making methods have been used for sustainability assessment. “Sustainability” can be a qualitative concept, and as such several researchers have attempted fuzzy logic for the quantitative assessment of sustainability. This paper outlines a new evaluation model based on fuzzy multi-criteria decision-making. The model is tested for sustainability assessment of higher education institutions (HEIs). It is based on a driving force–pressure–state–exposure–effect–action (DPSEEA) framework and is called uncertainty-based DPSEEA-Sustainability index Model (uD-SiM). The uD-SiM is a causality-based model in which the sustainability index is an outcome of nonlinear impacts of sustainability indicators in different stages of DPSEEA. The percent contribution of driving forces on the sustainability index of HEI is investigated using sensitivity analysis. The study reveals that education in sustainability and global and local research trends are the major driving forces for achieving sustainability in HEI, followed by financial and economic growth rate, social equity, energy requirements rate, and institutional enhancement, in descending order. The results of uD-SiM were found to be more realistic and rational than our earlier proposed approach, D-SiM.     

Seismic risk assessment of storage tanks in Turkish industrial facilities

In 1999, two earthquakes in northwest Turkey caused heavy damage to a large number of industrial facilities. This region is the most industrialized in the country, and heavy damage has a significant economic influence. Industrial storage tanks, ruptured by earthquakes, exascerbate damage through the spread of fire. Storage tanks are uniquely structured, tall cylindrical vessels, some supported by relatively short reinforced concrete columns. The main aim of this study is to evaluate the earthquake performance of Turkish industrial facilities, especially storage tanks in terms of earthquake resistance. Modeling a typical storage tank of an industrial facility helps to understand the structure’s seismic response. A model tank structure was modelled as a solid with lumped mass and spring systems. Performance estimation was done with 40 different earthquake data through nonlinear time history analyses. After the time history analyses, fragility analyses produced probabilistic seismic assessment for the tank model. For the model structure, analysis results were evaluated and compared. In the study, vulnerability of storage tanks in Turkey was determined and the probabilistic risk was defined with the results of the analysis.