Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H-SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H-SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.     

K/T界面冲击层的岩石矿物特征及其对论证地外撞击事件的意义

分布在世界各地的K／T界面剖面，尽管形成环境各异，但彼此之间的岩石矿物特征却有许多共同之处。对于大多数剖面来说，界面粘土层的底都普遍存在着一个结构特别的冲击层。冲击层的厚度在全球的分布并不均匀，北美和加勒比海地区可达2～50cm，而其它地区则只有几厘米。冲击层的厚度可能反映了距离撞击坑的远近。详细的岩石与矿物学研究结果表明，在北美和加勒比海地区冲击层实际上具有双层结构特征。上面的一层称为火球层，除了富集Ir和其它地外指示元素外，还含有大量的烟灰和富Ni镁铁尖晶石。下面的溅射层则含有大量的冲击玻璃球粒（玻璃陨石）和冲击变质矿物。K／T界面冲击层的发现为Ir异常的地外撞击成因解释提供了更为直接的物理证据。     

Fetal limb constriction: A possible complication of CVS

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.     

Prenatal diagnosis of a new syndrome: Holoprosencephaly with hypokinesia

Markedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X-linked syndrome that is readily detectable by prenatal ultrasonography.     

古鄱阳湖中生代盆地充填序列和演化特征

古鄱阳湖中生代盆地的研究表明，该盆地并不是简单的白垩纪盆地，而是历经多次构造旋回的复杂盆地。盆地多次成生、萎缩、上升，均是燕山运动的结果。     

三株菲降解细菌的分离、鉴定及降解特性的研究

从石油污染土壤中分离纯化到 3株能以菲为唯一碳源和能源生长的革兰氏阴性杆菌、好氧、不形成芽孢、端生或侧生单根鞭毛 ,分别命名为菌株ZX4、ZX6和EVA17.据部分片段长度的 16SrDNA序列比对分析和生理生化试验结果 ,确认此 3株菌均为鞘氨醇单胞菌属 (Sphingomonas)细菌 ,菌株ZX4为少动鞘氨醇单胞菌 (S .paucimobilis) ,菌株ZX6为溶芳烃鞘氨醇单胞菌 (S .aromaticivorans) ,菌株EVA17尚不能确定 .分析了各菌株在系统发育中的分类地位 .菌株ZX4在 14d内对含量为 10 0 0mg·L-1的菲降解率可达 98 74%.不同底物实验结果表明 ,菌株EVA17可能同时拥有两条菲降解途径 .     

泌阳断陷下第三系核三~上段陆相层序各体系域岩石地球化学旋回性特征

泌阳断陷下第三系核三上段可划分为三个陆相层序（S4、S5和S6）．每一层序自下而上发育TST、HST和RST三个体系域。对泌阳断陷下第三水核三上段S5层岸各体系域中几类岩石地球化学标型参数的研究发现，在S5层序形成时期，由于在一个旋回性变迁的古气候（古湿度和古温度）驱动下，湖平面发生了一次完整的旋回性变化；湖泊水体的物理化学条件（古盐度、古酸碱度、古氧化还原电位等）及物源性质亦随之发生一次旋回性变化：相应地，沉积岩中岩石类型、矿物成分（主要指粘土矿物和胶结物）、化学成分（包括常量元素和微量元素及水溶性离子等）以及碳、氧同位素等皆发生了一次旋回性变化。     

Achondrogenesis type II (Langer–Saldino) in association with jugular lymphatic obstruction sequence

The prenatal diagnosis of achondrogenesis in association with cystic hygroma is described. Ultrasound findings of severe short-limbed dwarfism, decreased vertebral ossification, and normal ossification of the calvarium were all consistent with achondrogenesis type II. Although the unusual finding of associated cystic hygroma raised the suspicion of a concurrent chromosome abnormality, the karyotype of both fetal lymphocytes and fetal fibroblasts was normal. Autopsy confirmed dilated lymphatic channels in the basal endothelial layer of the skin, cystic hygroma, and coarctation of the aorta. Although previously unreported, we suggest that the features of this case of achondrogenesis indicate an association with lymphatic stasis and jugular lymphatic obstruction sequence in this syndrome.     

深度学习方法在上海市PM2.5浓度预报中的应用

为提升PM_2.5浓度预报能力,尤其是对PM_2.5重污染的预报能力,以中尺度气象-化学耦合模式系统（WRF-Chem）为基础,结合中尺度WRF气象预报数据、地面及高空气象观测数据、PM_2.5浓度观测数据,基于人工智能深度学习序列到序列的算法建立了上海市PM_2.5统计预报模型.结果表明,人工智能深度学习算法（Seq2seq）明显修正了WRF-Chem模式由于模型非客观性造成的偏差,提高了上海市PM_2.5浓度的预报能力;该算法优化和修正了WRF-Chem模式结果,并通过检验发现可以使PM_2.5浓度预报值与实况值间的相关系数由0.51上升至0.79,均方根误差由25.9μg/m³下降至15.01μg/m³.而单独使用套索法（Lasso）线性回归算法对WRF-Chem模式优化效果不理想.基于Seq2seq的PM_2.5浓度预报修正模型能够有效提升预报精度.     

川西高原甘孜黄土-古土壤容重的特征及其古环境意义

川西高原一带黄土沉积广泛分布,研究该地区黄土-古土壤序列的容重对于理解黄土沉积过程,探讨青藏高原东部地区的环境演化具有重要意义。论文详细分析了甘孜地区末次间冰期以来的典型黄土-古土壤序列的容重变化,结果表明该区土壤容重在1.63—2.53 g?cm~(-3)变化,黄土地层中容重较大,平均为2.01 g?cm~(-3);古土壤地层中容重较小,平均为1.94 g?cm~(-3)。土壤容重与磁化率、粒度2μm组分具有很好的负相关关系,而与平均粒径、粒度63μm组分呈明显正相关,可能表明了土壤化过程和沉积过程对土壤容重的影响;进一步的环境指标相关分析表明甘孜黄土-古土壤容重可以作为西风和高原冬季风变化的替代性指标。详细研究该区黄土的容重变化将有助于深入理解区域环流的演化过程和高原内部的干旱化历史。