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.     

深水型湖泊底泥NH4+-N释放的环境因子影响实验研究

通过对深水型人工湖泊(以福州市山仔水库为例)底泥NH4 -N释放特性进行实验研究,该实验在厌氧状态下进行,主要是以氨态氮溶出为主,这是一个物理过程,是由于分子的扩散造成的,分析了环境因子对底泥NH4 -N释放特性的影响及其原因.得出了温度、上覆水本身NH4 -N浓度和底泥粒径对底泥NH4 -N释放影响的动力曲线.同时说明了湖泊底泥NH4 -N释放对湖泊水质存在着潜在的危险性.为城市深水湖泊底泥疏浚和富营养化治理提供依据.     

First-trimester diagnosis of Meckel–Gruber syndrome by transabdominal sonography in a low-risk case

Meckel–Gruber syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life. The condition is usually diagnosed ultrasonographically in the second trimester and earlier diagnosis has been mainly confined to high recurrence risk pregnancies. We describe the earliest non-invasive diagnosis of this condition at 12⁺² weeks' gestation in a patient with no previous history using transabdominal ultrasound. Pregnancy termination was declined. Subsequent development of anhydramnios in the mid-trimester resulted in poor fetal visualization. We propose that first-trimester diagnosis of this condition is not only possible but preferable, as normal liquor volume facilitates visualization of fetal anatomy.     

Prenatal diagnosis of Pallister–Killian syndrome: Resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization

We report a case of Pallister-Killian syndrome initially diagnosed prenatally as tetrasomy 21. A 33-year-old primiparous woman was noted at 24 weeks' gestation to have moderate polyhydramnios. Ultrasonography showed diminished fetal stomach filling, hydronephrosis, and prominence of the cisterna magna. Cytogenetic analysis of cultured amniocytes was initially interpreted as mosaic tetrasomy 21: 46,XX/47,XX,+i(21q). The patient was then referred to our centre for genetic counselling. At 34 weeks' gestation, a dysmorphic infant was delivered and died within 30 min. Physical features were consistent with the Pallister-Killian syndrome. Renal, gastrointestinal, and central nervous system anomalies were found at post-mortem examination. Analysis of peripheral lymphocytes revealed 5 per cent of cells with a marker chromosome, while 92 per cent of cultured fibroblasts had this same marker. Fluorescent in situ hybridization (FISH) using an alpha-satellite probe for chromosomes 13 and 21 failed to hybridize to the marker, while a chromosome 12 centromeric probe unequivocally identified it as an i(12p). Use of FISH can provide rapid, specific prenatal diagnosis of ambiguous marker chromosomes and improve prenatal counselling.     

地面水中痕量挥发性有机污染物的GC／MS法测定

参考美国EPA624方法,采用LSC_3吹捕富集,色谱/质谱/计算机联用技术,以特征离子峰面积内标法,对若干挥发性有机污染物作定量分析研究。在1至50ppb浓度范围内,混合标样中各化合物均获得线性良好的校准工作曲线。相对标准偏差小于12％,平均回收率在94％～105％。最小检测浓度为0.5～1.0ppb。实际测定了地面水样,测得重点控制挥发性有机物12种,浓度为0.5～279ppb。     

核电厂址事故大气弥散因子计算的实验与理论研究

在目前常用的计算核电厂事故概率大气扩散因子的模式基础上提出了考虑内边界层影响的计算模式，根据某待建滨海核电厂址大气弥散实验的实测参数，分别采用本模式和常用模式估算了厂址边界０．５ｋｍ外的最终评价用事故概率扩散因子和各途径的剂量及有效剂量。计算结果表明，无论是事故概率扩散因子还是个人有效剂量，本模式给出的值都是常用模式的５．９倍。因此，在不能忽略内边界层出现频率的滨海厂址，必须考虑内边界层对事故扩散     

杭州城市及其边缘区湿地磷化学特征的研究

对杭州城市及其边缘区湿地土壤的磷形态组成、固磷能力和释放潜力等方面进行了初步的研究。结果表明,杭州城市及边缘地区的湿地由于受人类影响的不同及所处环境的差异,性质已有很大的分异。城区的西湖、水塘和河流底泥中磷的积累、磷的饱和度和零吸附磷平衡浓度均明显高于城市边缘地区的湿地;湿地土壤中的磷主要呈不稳定、或亚稳定态,可提取态磷约占总磷的80%,62%的湿地土壤磷饱和度在25%以上。最大磷吸附量的大小主要与湿地中无定形氧化铁、铝含量有关。零吸附时磷的浓度(EPC)较高,在0.10~2.48mg·L-1之间,具有较强的释放潜力。半透膜渗析法测得的磷释放量与磷积累呈正相关,但当磷饱和度超过25%时,其磷释放量显著增加。研究表明杭州市及其边缘区湿地土壤磷已普遍达到较高水平,这在一定程度上影响磷净化功能的正常发挥。     

模拟酸雨对土壤中的铜释放与缓冲作用研究

研究了模拟酸雨淋溶过程中对南方主要土壤重金属Cu的缓冲及释放现象。结果表明，土壤的Cu释放量随淋溶模拟酸雨pH值的下降而增大，酸雨的pH值是影响土壤重金属离子释放和迁移的主要因素，当pH〈3．0时，Cu的释放量明显增加，并且增长迅速。此外，淋溶量也是影响土壤中Cu释放的重要因素。     

长江中下游浅水湖泊沉积物磷释放动力学

在室内模拟条件下,通过沉积物磷释放动力学实验,研究了长江中下游浅水湖泊13个沉积物的磷释放动力学特征,并分析了沉积物组成特征对磷释放动力学的影响,结果表明:(1)指数动力学模型可以很好地拟合长江中下游浅水湖泊沉积物磷释放动力学特征,前20h为快反应,磷释放速度较大,随后进入慢反应,逐渐达到最大释放量;(2)沉积物磷释放动力学特征与其组成有关,其中与总氮、总磷和有机质含量呈显著正相关,与沙粒含量呈显著负相关,而与粘粒含量没有达到显著水平,与Olsen-P(0.5mol·L-1NaHCO3,pH8.5提取的磷)和易解吸态磷(RDP)含量达极显著正相关水平;(3)可以根据总磷和有效磷含量来比较和预测湖泊沉积物磷释放动力学特征,且根据有效磷含量可以得到比根据总磷含量更可靠的结果。研究成果可为系统揭示浅水湖泊富营养化发生机制提供依据。     

福州山仔水库底泥磷释放规律的研究

时福州山仔水库底泥中磷的释放规律研究结果表明：影响山仔水库底泥磷释放的主要因素是上覆水中的磷浓度、温度和溶解氧。并通过对底泥样品中的各种磷形态含量与上覆水中的磷浓度进行线性相关分析，均具有良好的相关性。