Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

Is maternal alpha-fetoprotein screening still of value in a low-risk area for neural tube defects?

Estimation of maternal serum alpha-fetoprotein (AFP) was used as a screening method for the detection of neural tube defects (NTDs) in 6344 women over three years. Of 88 (1.4 per cent) who had one or more serum AFP levels equal to, or greater than, 2.5 multiples of the median (MoM) for the relevant gestational age, 43 (0.68 per cent) underwent amniocentesis. There were eight NTDs. Four of these were screened by serum AFP, and all cases of spina bifida had serum AFP levels greater than 3.0 MoM, including one small open defect which was not seen on ultrasound. The other four cases of NTD, which were not screened, were identified by ultrasound. Of 64 singleton pregnancies 32 (50 per cent) had serum AFP levels between 2.5 and 3.0 MoM, and low birthweight (⪕2500 g) occurred in 29 per cent. Because of improvements in ultrasound techniques and the apparent falling incidence of NTD, the role of serum AFP as the primary screening procedure should be regularly reviewed. Effective screening is dependent on mothers booking early.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

高浓度Cl-水样CODcr的测定

阐述了高浓度Cl-水样,以铬酸钾做指示剂,加入适量的硝酸银,形成AgCl沉淀,消除了Cl-的干扰,再用离心沉淀机充分沉淀,取上清液,用COD快速测定仪测定CODcr,有很高的准确度,符合测定要求.     

北方高纬度地区生态系统动态、生物多样性管理及社会政策

由于受到众多因素大规模作用的影响,高纬度地区生态系统的变化异常活跃.这些地区的生态系统非常脆弱,各种全球变化过程都在影响着可更新林木资源持续生产和当地社会赖以生存的动植物资源丰度.本文对于北半球高纬度地区生态系统的一些新认识及其(所包含的)意义进行了讨论,并对提高生态系统的恢复力所采取的必要管理措施进行了探讨.认为在生态系统面临各种变化和干扰时系统管理的焦点应该从系统的恢复转移到系统功能的维系上来.生物多样性的作用是确保生态系统在经历干扰和重组时能够进行重组和发展,这一作用应该在系统管理与相关的方针政策中得到重视.强调应重新考虑现在的生态保护区的概念以发展一些动态的管理方法,使生态系统在面临环境变化时能够进行可持续的管理.而高纬度地区一些土著人习惯性的生态保护区的特点与那些对保护区进行动态保护的观点往往是一致的.针对高纬度地区动态景观中的生物多样性管理我们提出了新的发展方向,并从非传统的观点方面为其提供了经验例证.这些非传统的观点与看法可能会有助于提高生物多样性可持续管理和生态系统功能发挥的潜力.     

Wood materials used as a means to reduce greenhouse gases (GHGs): An examination of wooden utility poles

There has been growing concern over the build-up of greenhouse gase(GHGs) in the atmosphere, particularly carbon dioxide (CO₂), as acause of global warming. The IPCC Third Assessment Report (2001) suggests two ways in which the choice of materials could berelevant. First, some materials, particularly wood, have the advantage thatthey continue to hold carbon (C)in their cells even after being convertedto products. The implications of this feature are well researched. Second,an area that is not well researched relates to the different energyrequirements for producing similar products made with different materials. Using the findings of recent research, this paper compares the energyrequirements and C emissions of manufacturing a product using wood withthat of other materials. The case study of utility poles demonstrates thepositive C and global warming consequences of the lower energyrequirements of wood in the U.S., compared to other materials such assteel or concrete. It demonstrates that GHG emissions associated withutility poles are a small but significant percent of total US annual emissions. Wood utility poles are associated with GHG emission reductions of 163Terragrams (Tg) of CO₂ when compared with steel poles. This isabout 2.8 percent of US annual GHG emissions, which are estimated atabout 5.28 Petragrams (Pg) of CO₂ annually. Thus, the use ofwooden utility poles rather than steel results in a small but significantreduction in total US emissions.     

Rapid fetal karyotype from cystic hygroma and pleural effusions

Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 10⁶ cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10⁶ cells/ml.     

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.