Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

新型Fe3O4@α-MnO2活化过一硫酸盐降解水中偶氮染料

采用两步水热法制备了新型磁性纳米Fe₃O₄@α-MnO₂复合材料作为催化剂,用于活化过一硫酸盐（PMS）产生强氧化性的硫酸根自由基（SO₄^-·）氧化降解偶氮染料活性黑5（RBK5）.采用透射电子显微镜（TEM）,X射线粉末衍射仪（XRD）和振动样品磁强计（VSM）对制备的催化剂进行表征,证明成功合成了纳米α-MnO₂包覆Fe₃O₄形态的Fe₃O₄@α-MnO₂催化剂,催化剂的饱和磁化强度为39.89emu/g.Fe₃O₄@α-MnO₂催化剂活化PMS与单一的Fe₃O₄和α-MnO₂活化PMS相比,具有更高的催化效率,说明铁锰双金属存在协同作用.同时研究了催化剂的投加量、PMS的浓度和初始pH值等各种因素对RBK5的降解效率以及反应动力学的影响.实验结果表明,Fe₃O₄@α-MnO₂催化剂活化PMS降解RBK5的过程符合准一级反应动力学,在催化剂投加量为1.2g/L,PMS的浓度为4mmol/L,初始pH值为7.0,反应时间为60min的情况下,浓度为30mg/L的RBK5的降解效率可达到91%,此时RBK5的降解速率常数也达到最高值0.023min^-1.此外,通过加入自由基淬灭剂甲醇、叔丁醇和硝基苯判断了Fe₃O₄@α-MnO₂/PMS体系中起主要氧化降解作用的活性物种为SO₄^-·.     

Y5复合产絮菌及其产絮物絮凝特性试验研究

从含大量微生物菌群的土壤中筛选出了具有产絮效果的Y5菌液。比较不同培养条件下Y5菌液的絮凝率得出 :菌液絮凝性能是其中 3种复合菌株共同作用的结果 ;培养基初始pH值在 5 .0～ 9.0的范围内时 ,Y5菌液的生长量及其上清液的絮凝率都较高。     

分光光度法测定雨水中微量过氧化氢的研究

本文提出了以钛（ＩＶ） 过氧化氢 ２ （３，５ 二溴 ２ 吡啶偶氮） ５ 二乙氨基苯酚（３，５ ｄｉＢｒ ＰＡＤＡＰ）三元配合物体系光度测定雨水中微量过氧化氢的方法，该方法简便，灵敏度和选择性较高，所得结果令人满意     

治理催化超临界水氧化处理1,5-萘二磺酸

采用Mn2O3γAl2O3和V2O5γAl2O3为催化剂,在一连续流固定床反应器中进行了超临界水氧化1,5萘二磺酸实验。实验结果表明,在380～440℃,24MPa条件下,Mn2O3γAl2O3和V2O5γAl2O3催化剂对1,5萘二磺酸的氧化降解具有显著的促进作用,TOC去除率达到90%以上;催化剂的催化效果随反应温度的升高而增强,随pH值的降低而增强,随停留时间的延长先增强后趋于平缓。     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells.     

不同生长期的Pseudomonas putida 5-x细胞对工业废水中Cu~(2+)的吸附

研究了不同生长阶段的Cu2 + 吸附细菌Pseudomonasputida 5 x对Cu2 + 的吸附容量 .结果表明在低硫培养基中 ,当P putida 5 x细胞生长刚进入对数生长期时 ,单位细胞对Cu2 + 的吸附溶量最低 .而当生长进入稳定生长期的后期或死亡期的早期时 ,单位细胞对Cu2 + 的吸附量最大 .实验结果还表明 ,高浓度的Cu2 + 对对数期细胞的吸附能力有一定的抑制 ,而对死亡期的细胞影响较小 .早期研究已证明细胞对重金属离子的吸附和细胞表面某些对重金属离子具有亲和性的功能基团 (如某些膜蛋白及羰基化合物 )有关 .利用透视电子显微镜观察了不同生长阶段的细胞表面结构及对铜离子的吸附效果 ,发现生长后期细胞表面吸附有较多的Cu2 + ,这表明生长后期的细胞表面可能含有较多的这类功能基团     

中国PM_(2.5)污染状况和污染特征的研究

近１０ 余年来在中国的城市地区和清洁地区进行了ＰＭ２－５ 的采集和分析，其中包括ＰＭ２－５ 的质量浓度、离子和元素成分、酸度和酸化缓冲能力以及来源解析，研究结果表明，中国大部分地区ＰＭ２－５ 的污染较重，不论是质量浓度，还是各种主要成分浓度，在ＴＳＰ 和ＰＭ１０ 中都占有很高的比重，而ＰＭ２－５ 的酸度也远远高于ＴＳＰ 和ＰＭ１０ ，特别是近年来ＰＭ２－５ 污染还有相对加剧的趋势。