Preimplantation genetic diagnosis for familial amyloidotic polyneuropathy (FAP)

Preimplantation genetic diagnosis (PGD) was developed more than a decade ago to offer an alternative to prenatal diagnosis for couples at risk of transmitting an inherited disease to their offspring. Portuguese-type familial amyloidotic polyneuropathy (FAP type I), is an autosomal dominant disease presenting an inherited mutation in the gene encoding the plasma protein transthyretin (TTR). We here report the first protocol for single-cell detection of the Met30 mutation in FAP type I and its application to PGD. A nested PCR reaction for exon 2 of the TTR gene was developed. The PCR product was then analysed by restriction enzyme analysis and SSCP allowing the detection of the point mutation. Ten clinical cycles were performed in seven couples. From the 93 metaphase II (MII) injected oocytes, 82 were normally fertilized and 78 were biopsied. A positive signal in the nested PCR reaction was obtained in 61 blastomeres, corresponding to a DNA amplification efficiency of 78.2%. No allele dropout (ADO) or contamination were detected. A biochemical pregnancy was obtained in three cases and a clinical pregnancy in one couple is actually in normal evolution. Copyright © 2001 John Wiley & Sons, Ltd.     

基于数据挖掘算法和数值模拟技术的大气污染减排效果评估

近年来,京津冀地区采取了大量污染减排措施进行大气污染治理,如何客观评估减排效果是目前大气环境领域的研究难点.为准确评估大气污染过程的减排效果,本文利用北京地区常规气象资料、国控站PM_(2.5)浓度资料,遴选了北京地区2018年3月11—14日和2013年3月14—17日两次空气污染过程,计算了大气容量系数、静稳指数,并利用KNN数据挖掘算法和WRF-Chem模式,对比分析了有无减排条件下的PM_(2.5)日均浓度.结果表明:两次空气污染过程的天气形势和局地气象条件较相似,就大气热力和动力的垂直结构来看,2018年空气污染过程比2013年空气污染过程的大气稳定性更强、边界层高度更低、环境容量更小,但PM_(2.5)峰值浓度却显著下降,平均浓度明显降低,PM_(2.5)小时浓度的增长趋势相对平缓,重污染持续时间缩短.KNN数据挖掘算法减排评估结果显示,该方法能够较好地预测PM_(2.5)日均浓度的变化趋势,2018年3月11—14日,在减排和不减排情景下PM_(2.5)日均值分别为171和229μg·m~(-3),减排使得污染过程PM_(2.5)平均浓度下降了25.3%.数值模拟结果与KNN数据分析结论吻合,进一步验证了减排措施的有效性.综合看来,2018年空气污染过程中PM_(2.5)浓度相比历史相似气象条件下的污染过程显著降低,这是长期大力度减排效果的体现.     

OBIA与RF结合的龙口市土地利用信息提取方法

为提高中分辨率遥感影像解译精度,本文提出面向对象影像分析（Object Based Image Analysis,OBIA）与随机森林（Random Forest,RF）结合的土地利用信息提取方法。采用Landsat 8 OLI影像,针对不同地物特点,阈值分割和多尺度分割结合创建影像对象,规则集和分类器协同分类,基于Relief F算法分别对光谱特征、纹理特征及所有特征降维筛选特征子集,并与全部特征一起应用RF建模,对龙口市进行土地利用信息提取与比较。结果表明：OBIA与RF结合提取土地利用信息,基于Relief F算法筛选纹理特征,保留完整光谱、几何、空间关系特征构建RF模型,建模错分率为0.0958,分类总体精度和Kappa系数分别为89.37%和0.872,取得较理想结果。该方法可应用于中分辨率遥感影像土地利用信息提取。     

气溶胶等效复折射率反演的免疫进化算法

通过Mie散射理论公式构建目标函数,利用免疫进化算法对气溶胶等效复折射率的实部和虚部进行协同优化,据此创新性地提出了气溶胶等效复折射率反演的新途径.基于成都市2017年9~12月逐时的气溶胶散射系数和吸收系数观测数据以及该时段同时次GRIMM180大气颗粒物监测仪的连续监测资料,研究结果表明,气溶胶等效复折射率反演的免疫进化算法不仅是普适的,而且还具有收敛速度快、计算稳定和求解精度高等特点.通过与其它气溶胶等效复折射率反演方法的对比分析,进一步论证了新方法的优势,这为气溶胶等效复折射率演变机理以及气溶胶吸湿性增长模型的后续研究提供了算法保障.     

TAGE:一种新的大气污染物来源及输送情况的网格化分析方法

提出了一种新的大气污染物来源及输送情况的网格化分析方法.首先,不依赖于排放源清单,而是以预设的网格化排放源来运行空气质量模型,得到排放源的污染影响因子.然后,结合污染物监测数据,构建排放源总合排放强度求解方程组,并利用遗传算法进行求解.最后,基于排放源的污染影响因子和总合排放强度,计算出排放源的污染贡献占比,从而完成对大气污染物来源及输送情况的网格化分析.这一方法的提出,为缺少准确排放源清单情况下大气污染状况的分析与治理,提供了新的思路.利用此方法,对北京市、石家庄市、保定市2017年10~12月期间PM_2.5的来源及输送情况进行了验证性实验.     

Fetal renal anomalies and genetic syndromes

Renal abnormalities are some of the commonest and most easily detectable anomalies on ultrasound. Many are an isolated finding but the prognosis may be altered considerably by the detection of other anomalies which could indicate a genetic disorder or syndrome. It is often easier to detect presupposed anomalies and the purpose of this article is to introduce and discuss those syndromes that may present with a renal abnormality on ultrasound. Common renal findings are presented with the range of additional anomalies that should be sought and suggested diagnostic tests. It should be remembered that although for many genetic conditions specific mutation analysis is now available, this usually requires pre‒pregnancy investigations. Furthermore, in some cases the definitive diagnosis may not be suspected until post mortem. By this time it may be too late to establish a cell line to confirm the suspicion using laboratory methods. It is therefore important to take tissue samples antenatally where possible, or at delivery, as postnatal samples may have a high culture failure rate. Copyright © 2001 John Wiley & Sons, Ltd.     

Personal desires of patients and social obligations of geneticists: applying preimplantation genetic diagnosis for non-medical sex selection

The arguments against the use of preimplantation genetic diagnosis (PGD) for non-medical sex selection are analysed. It is concluded that the distinction between medical and non-medical reasons is difficult to maintain, that the disproportionality of means and end is not a decisive counterargument and that the fear of damage to the reputation of PGD does not justify the refusal of controversial applications. Moreover, since non-medical sex selection does not belong to basic health care, it should not be equally accessible to all. The position defended in this article is founded on two basic principles: (1) medical reasons have priority on non-medical reasons, and (2) personal reasons do not qualify for public funding. In order to respect both principles, it is proposed that restrictions should be installed to control the number of requests for social sexing and that a tax should be imposed on these elective services. The tax should compensate the society for the investment it made in the training and education of the physician. Copyright © 2002 John Wiley & Sons, Ltd.