Normal and abnormal fetal cardiac anatomy

The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient. Copyright © 2004 John Wiley & Sons, Ltd.     

ICP-MS法测定饮用水中金属元素

利用ICP-MS法对饮用水中的多种元素进行全定量分析,结果表明,ICP-MS法可同时测定饮用水中的多种元素;快速,一个样品仅需3～5 分钟;灵敏度和准确度高;精密度好,相对标准偏差一般小于3%;检出限低,达到ng/L-ug/L级;线性范围宽,达到8～9 个数量级.     

Prenatal detection of congenital hypospadias in the wolf-hirschhorn (4p —) syndrome

Hypospadias is one of the most prominent and characteristic midline defects in male infants with the Wolf-Hirschhorn (4p —) syndrome. In this report we present a case in which hypospadias was identified prenatally at 29 weeks' gestation in association with intrauterine growth retardation. Cytogenetic evaluation after birth confirmed a 46, XY, del(4)(p14) karyotype. The prenatal identification of hypospadias in fetuses with intrauterine growth retardation and normal amniotic fluid should suggest a diagnosis of Wolf-Hirschhorn syndrome.     

Lesch—Nyhan syndrome: Carrier and prenatal diagnosis

We report the results of carrier and prenatal diagnosis for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, Lesch—Nyhan syndrome, by carrier testing of 83 women and prenatal analysis of 26 pregnancies. Our diagnostic methodologies include mutation detection and linkage analysis for probands and their families and biochemical measurement of HPRT enzyme activity for at-risk pregnancies. Identification of the mutation in the index case of each family permits precise carrier diagnosis using polymerase chain reaction (PCR) amplification of HPRT gene sequences and automated DNA sequencing. We demonstrate 100 per cent sensitivity for the detection of mutations in the HPRT gene of affected males and highly efficient carrier testing of at-risk females. Two other molecular methods proven to have high utility include PCR-based dosage analysis and linkage analysis by PCR amplification of a short tandem repeat (STR) in intron 3 of the HPRT gene. As a result, 45 at-risk women, 56 per cent of those tested, were identified not to be carriers of their family's HPRT gene mutation. Seven of these women were the mothers of affected males and prenatal testing for future pregnancies was recommended because of the possibility of gonadal mosaicism. Thirty-eight of these women were more distant relatives of affected males, thereby eliminating the need for future prenatal procedures. These studies illustrate the utility and precision of molecular methodologies for carrier and prenatal diagnosis of Lesch—Nyhan syndrome. These studies also illustrate that molecular diagnostic studies of affected males and carrier testing prior to pregnancy can clarify genetic risk predictions and eliminate unnecessary prenatal procedures.     

利用AES法和FLAA法测定底质中的铅

:利用萃取火焰原子吸光法和石墨炉原子吸光法 (标准添加法 )共同对底质中的 Pb进行测定 ,测定结果表明此方法能减少 Pb的基体干扰 ,提高测定结果的准确度     

Monosomy 8q: Prenatal diagnosis and autopsy findings

The autopsy findings of a fetus with deletion of the long arm of chromosome 8 are described. Many of the features are similar to those of the tricho-rhino-phalangeal syndromes, types I and II, which are associated with deletions on chromosome 8q24. Other findings in this case, such as total absence of the corpus callosum and intestinal malrotation, have not been described in these syndromes. Genes involved in the development of the latter malformations may reside in adjacent regions on the long arm of chromosome 8. An elevated serum level of beta human chorionic gonadotropin (βhCG) was found during pregnancy. This aberration should be included with other chromosomal disorders which may be detected by this test.     

A new RFLP marker,SP282, at the btk locus for genetic analysis in X-linked agammaglobulinaemia families

X-linked agammaglobulinaemia is an inherited recessive disease in which the primary defect lies in the failure of pre-B cells to develop into mature circulating B cells, due to a defective B-cell cytoplasmic tyrosine kinase (btk). For this study we introduced a new RFLP marker, SP282, which is tightly linked to the XLA locus. In conjunction with the marker DXS178, SP282 was used to identify a carrier female and predict her male offspring to be normal. Subsequently the fetus was shown to have a normal number of circulating B cells, and at 2·5 years of age, the non-affected phenotype of the child was confirmed.     

电感耦合等离子体原子发射光谱法测定废气中的铅方法研究

以石英纤维滤筒采样，采用硝酸一氢氟酸消解体系，建立了电感槌合等离子体原子发射光谱法测定废气中铅分析方法。研究了仪器工作条件、方法的干扰和消除因素，探讨了空白实验对分析结果的影响；在选定的最优条件下。铅标准曲线的线性相关系数为0．9999；检出限为0．010mg／L；平均相对标准偏差为2．8％；加标回收率为97．8％～104％。与国家标准方法相比，本方法准确可靠，检测限更低，灵敏度更高，线性范围更宽，可用于废气中铅的含量测定。     

不同溶样方法测定石灰石多组分含量的研究

采用铂金坩蜗熔融、银坩埚熔融和盐酸直接溶解方法测定了石灰石中多组分的含量。并同时使用ICP测定石灰石中SiO2、Al2O3、Fe2O3的成分。研究结果表明：在测定石灰石中CaO、MgO和Fe2O3含量时，采用盐酸直接溶解方法，具有方法简单、分析快速的优点，且准确度能达到要求；在测定石灰石中CaO、MgO、SiO2、Al2O3，和Fe2O3含量时，采用银坩埚代替铂金坩埚熔样，具有成本低的优点，且准确度亦能达到要求；采用ICP测定标准石灰石样的SiO2、Al2O3和Fe2O3组分具有快速、简单和准确度高的特点。     

碱性微波提取-ICP/MS法测定土壤中六价铬

采用碱性微波提取法处理土壤样品,用电感耦合等离子体质谱（ICP/MS）法测定试样中的六价铬,以标准物质测定相对误差的绝对值作为试验指标建立正交模型,确定碱性微波消解的提取温度95 ℃、提取时间30 min、氯化镁用量005 g、提取液体积6 mL为最佳试验条件,采用He碰撞池技术和在线内标分别消除基体带来的质谱和非质谱干扰。条件优化后,方法检出限为0.10 mg/kg,实际样品6次测定结果的RSD分别为13.0%和5.7%,加标回收率为120%和106%。将该方法用于有证标准土壤样品的测定,测定结果均在标准值范围内。