Prenatal DNA Sequencing: Clinical,Counseling, and Diagnostic Laboratory Considerations

Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd.     

基于风险神经网络的大气能见度预测

针对空气污染导致大气能见度降低的预测研究,构建了一个风险神经网络模型,模型以6个气象因子、3种主要污染物(SO2,NO2,PM10)浓度和能见度作为输入因子,输出为24h后能见度的预测值.该模型对低能见度情况的数据给予相对较高的风险值,而对高能见度情况的数据则给予相对较低的风险值.以天津市2003~2007年的气象数据对模型进行检验,结果表明该风险神经网络模型优于传统神经网络模型和线性回归模型.     

Will Simplified Modalities and Procedures Make More Small-Scale Forestry Projects Viable Under the Clean Development Mechanism?

Simplified modalities and procedures (M&P) are expected to increase the viability of small-scale project activities under the Clean Development Mechanism (CDM). A small-scale afforestation or reforestation (AR) project is defined as a project removing less than 8 kilotons of carbon dioxide equivalent (CO₂e) per year. Depending on the project type and the method for measuring scale, 8 kilotons of CO₂e per year correspond to highly diverse areas, possibly ranging from 200 to 6000 ha. Using a model to calculate the minimum project scale above which the CDM is a positive financial incentive for eligible AR project activities, the paper analyzes whether a reduction of transaction costs under simplified M&P will be a sufficient incentive to motivate small-scale participation in the CDM. Model results show that, even under optimistic assumptions on carbon market conditions and transaction costs, small-scale project activities will not benefit from simplified M&P. Results also show that project activities removing more than 8 kilotons of CO₂e per year and registered as small-scale would be the ones that could benefit the most from simplified M&P. It is concluded that the participation of small-scale project activities to the CDM requires more than simplified M&P, the price of expiring Certified Emission Reductions being one of the most critical parameters.     

Prenatal diagnosis of the pterygium syndrome

We report two second trimester pregnancy terminations in the same woman following intrauterine ultrasonic findings of hydrops fetalis, polyhydramnios, lack of fetal movements, and short, fixed malformed limbs. One fetus also showed a cystic mass at the back of the head. Radiographic and anatomic studies of the fetuses demonstrated multiple pterygia, flexion contracture of multiple joints, abnormal facial appearance, cleft palate, pulmonary hypoplasia, and gracile bones. The cystic mass of the back of the head was found to be a cystic hygroma. These findings are consistent with the lethal variant of multiple pterygium syndrome. Early prenatal diagnosis of this condition is possible using ultrasonography.     

Prenatal exclusion of the hhh syndrome

Prenatal diagnosis of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria syndrome is described by the analysis of ornithine incorporation in second-trimester cultured amniotic fluid cells. An unaffected fetus was predicted and confirmed in the newborn child. This is the third reported prenatal diagnosis for this disorder and the second predicting an unaffected fetus.     

Prenatal diagnosis of the Klippel-Trenaunay-Weber syndrome

The Klippel-Trenaunay-Weber syndrome is a complex developmental disorder of the vascular and skeletal systems. While many features of the syndrome are congenital, it has not been diagnosed often before birth. This paper describes a case of Klippel-Trenaunay-Weber syndrome diagnosed at 19 weeks' gestation on the basis of sonographic findings and family history. The clinical variability of the syndrome is emphasized and the importance of family history in differential diagnosis is stressed.     

我国小型CDM项目开发障碍及其对策研究

2005年《京都议定书》生效以来,我国一直是全球CDM开发的重要国家之一,在CDM开发方面取得显著成就。但是由于信息流通、项目规模以及市场因素的影响,我国小型CDM项目在开发范围和深度方面都存在显著的不足。在对以上原因进行分析的基础上,本文认为采取多个小项目打包开发、以地区为单位整体开发以及促进CDM信息交流等方法可以解决以上阻碍小项目开发的因素,促进我国CDM健康发展。     

土壤污染调查加密布点优化方法构建及验证

鉴于传统调查布点方法对土壤污染物平均含量的估计精度较高,但对污染区范围的估计精度不能满足修复治理需求的问题,同时,为了准确估计土壤污染区面积及其空间位置,提出了土壤污染详查样点优化方法.在初步调查的基础上,首先利用地统计条件模拟方法预测土壤污染概率,基于污染概率和土壤污染物含量局部空间变异确定加密布点的优先区域,并根据污染物含量的空间变化趋势布设样点,然后根据优化后的土壤污染调查布点方案估计污染区面积和空间位置.最后,以某Cd污染场地为例,验证了布点优化方法的效果.结果表明,土壤污染调查加密布点方法显著提高了污染区面积及其空间位置的估计精度.案例场地土壤Cd污染区面积的预测误差为4.10%,污染区空间位置的精度为86.10%.土壤污染调查布点优化方法在保证土壤污染调查精度的同时,相比于传统调查方法可显著降低土壤污染调查的样本量.     

多菌种生物膜内各菌种生物量的动力学推定及验证

以Monod模型为基准,推导多菌种生物膜内各菌种生物量的推定模型.以东深供水原水生物预处理工程为研究对象,对生物填料进行静态、批量实验,推算生物膜内亚硝化菌（AOB）和硝化菌（NOB）在生物池内的沿程分布规律及其基质限制条件;进行生物膜内AOB和NOB的培养计数实验及反应器系统出水模拟,验证生物量推定结果.结果表明：多菌种生物膜内AOB和NOB生物量的动力学推定,方法简单、可行;生物膜内AOB和NOB的活性生物量沿池长均呈两头低中间高的特殊分布;膜内AOB和NOB的活性生物量分别占相应总生物量的68.2%～74.2%和25.0%～29.9%;以这些活性的AOB和NOB生物量推定结果进行反应器系统出水模拟效果相当理想.     

Prenatal and postnatal management of omphalocele

Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype and thoroughly assess the fetus for other malformations. Prenatal management involves serial assessment of fetal growth and prenatal testing to ensure fetal well-being. Closure of the abdominal wall and replacement of organs into the abdominal cavity can be done directly if the omphalocele is small or in a staged manner if the omphalocele is large. Successful outcomes for these neonates can be optimized with a multidisciplinary team approach to prenatal and postnatal management. Copyright © 2008 John Wiley & Sons, Ltd.     

Prenatal ultrasound diagnosis of the Holt-Oram syndrome

The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.     

放牧生态系统与尺度问题

引言 最近20年,以前许多关于非洲放牧生态系统的假设都已经被抛弃了[1～4].例如,过去一直被认为是稳定的系统,由于过度饲养和放牧而变得不再稳定了.因此,根据Hardn的著名"公共灾难"概念[5]提出了新的管理方案,并集中于改变土地使用体制与降低饲养数量相结合.但不幸的是,根据这种理念确定的放牧管理项目,几乎没有取得什么成功.     

Prenatal assessment and management of sacrococcygeal teratoma

Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21 700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to document the extent of the tumor as well as identifying the population at risk for serious fetal complications. Rapidly growing SCT and highly vascularized tumors are more likely to have hemodynamic repercussions. Fetal hydrops is usually considered as a poor prognostic marker and a potential indicator for fetal intervention. Newborns with SCT require stabilization prior to early surgical resection. In case of malignancy additional chemotherapy may be required. SCT may result in significant morbidity, either directly or as a consequence of surgical therapy. Careful postnatal follow-up is required for timely identification and treatment of complications as well as recurrence. This paper aims to review the perinatal management of this condition. Copyright © 2011 John Wiley & Sons, Ltd.     

地方环境管理信息系统的设计原则与开发程序

环境管理信息系统是为环境管理服务的环境数据的收集、传递、存贮、加工、维护的工具和手段。现代的信息系统是由人和计算机组成的复杂体系,它不仅与计算机、环境科学密切相关,还涉及计算科学、运筹学、决策科学等有关学科。     

Prenatal obstruction of the ileum diagnosed by ultrasound

A case of low atresia of the ileum, diagnosed prenatally by real-time ultrasound scanning, is presented. The ultrasound examination showed progressive distension of intestinal loops, with strong peristaltic movements. The stomach was also distended, presenting as a large cystic area in the upper left abdomen. Real-time ultrasound technique is most advantageous in the diagnosis of fetal ileus. Prenatal diagnosis of fetal intestinal obstruction is of great importance, making early and safe treatment of the newborn possible.     

Development and validation of abiotic ligand model for nickel toxicity to wheat (Triticum aestivum)

A terrestrial biotic ligand model (t-BLM) was developed to predict nickel toxicity to wheat (Triticum aestivum) root elongation in hydroponic solutions. The competitive effects of five major cations (Ca²⁺, Mg²⁺, Na⁺, K⁺ and H⁺) on Ni toxicity were investigated and Mg²⁺ was found to be a strong competitor, while H²⁺ showed less competing effect. Besides free Ni²⁺, the toxicity induced by the species NiHCO₃⁺ was non-neglect able at pH > 7 because NiHCO₃⁺ occupied a significant fraction of total Ni under such condition. Thus, a t-BLM including Ni²⁺, NiHCO₃⁺, Mg²⁺, and H⁺ could successfully predict the nickel toxicity to wheat root elongation and it performed better prediction than the conventional free ion activity model. In addition, the model was examined with two sets of independent experiments, which contained multiple cations and low-molecular-weight organic acids to mimic the rhizo-sphere condition. The developed t-BLM well predicted nickel toxicity in both experiments since it can account in both complexation and competition effects, suggesting its potential to be used in a complicated matrix like soil solution. This study provides direct evidence that the t-BLM is a reliable method for the risk assessment of nickel in terrestrial system.