Prenatal diagnosis of hereditary tyrosinaemia: Measurement of succinylacetone in amniotic fluid

A method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia. Our data show that the forty amniotic control samples had no detectable succinylacetone, while succinylacetone was found in three out of the thirteen cases at risk. Following the parents' decision, these three fetuses were aborted. The ten other mothers who brought their pregnancies to term had normal infants. Enzymatic analysis from two of the aborted fetuses' livers revealed an absence or a low activity of fumarylaceto-acetate hydrolase (EC 3.7.1.2) compared with control fetal livers of the same age.     

Trisomy 20 mosaicism confirmed in a phenotypically normal liveborn

Prenatal diagnosis of trisomy 20 mosaicism in this case was based on cytogenetic analysis of cultured amniotic fluid cells (23/52 cells were trisomy 20 representing cells from each of four primary cultures). The pregnancy continued to term and the mosaicism was confirmed in the phenotypically normal male neonate by analysis of cultured foreskin fibroblasts (7/49 cells + 20) and placental cells 20/20 cells + 20) whereas the peripheral lymphocytes were cytogenetically normal (20/20 cells were 46,XY). This represents the first confirmation of trisomy 20 mosaicism in a phenotypically normal full-term neonate.     

Normal ultrasonic size and characteristics of the fetal adrenal glands

Utilizing real-time ultrasound we define the normal fetal adrenal glands from the 20th week of gestational age. The normal acoustic characteristics of the adrenals are described. Potential applications of the nomogram derived from this study are suggested.     

Prenatal identification of a Y-chromosome deletion by Y-specific single copy DNA probes

A sex chromosome deletion was identified in the course of prenatal diagnosis for maternal age. Ultrasound pictures revealed male fetal sex and a comparison with the father's Y chromosome suggested that the altered chromosome might be a de novo deletion of the Y chromosome. DNA hybridization with five human Y-specific probes shows that, among the Y-specific sequences recognized by the probes, only two of them are absent. The normal infant, at birth, was mosaic 46, XYq- /46,XY.     

IMPACT OF WATER CUTBACK ON SUGARCANE PRODUCTION IN THE FLORIDA EVERGLADES1

ABSTRACT: Sugarcane (Saccharum spp.) was planted in six lysimeters containing Pahokee muck (Lithic Mediaprist) where water tables were maintained at 30, 60, and 90 cm depths. The main objective was to study the impact of a 40 percent water cutback (108 mm) on sugarcane production during the period near the end of the dry season (i.e., May). The water cutback treatment was simulated through manipulation of water table depth. Due to the high available water capacity of the muck soil and selection of a sugarcane cultivar ‘CP63-588’ (which has a high tolerance of water table fluctuations), the sugarcane growth, and the yields of sugarcane biomass and sugar were not significantly different as a result of the treatments with and without 40 percent water cutback during a period of two months. This result is in good agreement with the 1981 cane yield in the Everglades Agricultural Area where a 35 percent water cutback was imposed during the 1981 drought.     

Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times

Short- and long-term cultures of chorionic villi obtained in the 11th week of pregnancy revealed trisomy 14. After induced abortion trisomy 14 mosaicism was established in fetal skin and umbilical cord tissue while a second long-term culture of chorionic villi exhibited a normal karyotype. The results of the pathological investigations are discussed with respect to the cytogenetic findings.     

Prenatal diagnosis of atypical tay-sachs disease by chorionic villi sampling

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family, The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.     

大气污染预测软件的测试

针对大气预测工作中可能出现的各种偏差,结合影响大气扩散的主要因素,对大气污染预测软件的测试方法进行了归纳,提出了测试大气预测软件的基本方案。     

线源扩散公式的实验应用及检验

本文采用不同的线源模式，对新建城区公路近，远期汽车排放污染物进行预测，并与实测验证，结果表明、采用汽车污染物扩散模式，预测新建公路对城区大气环境质量影响是可行的，预测结果与实验结构相吻合。     

DISTRIBUTIONAL ISSUES IN WESTERN MUNICIPAL AND INDUSTRIAL WATER SUPPLY1

ABSTRACT Financing and repayment provisions of western water projects effect transfers of income among federal taxpayers, electric power users, local water users, and property owners. We use the Bonneville Unit of the Central Utah Project as a case study in the distribution of municipal and industrial water costs. We examine the distribution of costs among taxpayers and water users in different political/geographical jurisdictions, and how this distribution is affected by water law, cost allocation procedures, and the choice of revenue source for local repayment of reimbursable costs. In light of the magnitude of distributional effects of present water policy, we conclude that lack of open debate on water issues is unfortunate. We conclude with speculation on the relationship of western water policy to the motivation of western water leaders who are instrumental in its formulation