Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

Amniotic fluid (AF) levels of 17-hydroxyprogesterone (17OHP) and testosterone (T) were determined at 16–17 weeks in 17 pregnancies at risk for CAH and results compared to 75 normal controls. The fetus was predicted to be unaffected in 12 cases on the findings of normal AF levels of both 17OHP and T and the latter allowed a correct prediction of fetal sex in all instances. HLA typing confirmed normality in 12 cases revealing 5 carriers, 5 homozygous normal and 2 indeterminate. Steroid levels of the 2 groups were similar. Three fetuses were predicted to be CAH affected on unambiguously high levels of 17OHP and T (in female only). HLA typing was in agreement, and the diagnosis was confirmed in 2 abortuses and a female newborn by physical and hormonal studies. In the last 2 cases AF levels of OHP and T were normal but HLA (A/B/C) genotypes were identical to the CAH affected siblings. Normal physical and hormonal findings in the 2 aborted fetuses would exclude the possibility of an in utero virilizing form of CAH. The discrepancy could be explained on the basis that the fetuses had an allelic form of 21-hydroxylase deficiency or on the basis of recombination (not fully tested). It is concluded that a fully informative prenatal diagnosis of CAH should not rely entirely on HLA typing but on hormonal studies.     

First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

Practical environmental monitoring of major construction projects

Independent teams undertook environmental monitoring of particular concentrations of major construction projects forming part of Hong Kong’s U.S. $20 billion airport infrastructure programme located in dense urban areas. The team combination of environmental specialists with experienced civil engineers enabled pragmatic mitigation measures to be developed and accepted by the construction personnel with the result that potentially significant adverse impacts were averted. The authors discuss the mechanism and success of this innovative approach.     

Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses

Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator. Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.     

Safety climate in Finnish- and Swedish-speaking companies.

The aim of this study was to compare assessments made by Finnish- and Swedish-speaking workers in Finland about the safety climate in their companies, because an earlier study showed that the accident frequency of Swedish-speaking workers was one third lower than that of Finnish-speaking workers. 148 Finnish-speaking and 138 Swedish-speaking workers from 14 small and medium-sized companies participated in this study. They filled out a Finnish safety climate questionnaire, the reliability of which was above the acceptable level. There were no differences between the language groups in the total variables of safety climate and safety action. Based on the differences in single items, we interpreted that Swedish-speaking workers stressed collective safety more, whereas Finnish-speaking workers put more emphasis on their personal responsibility for safety.     

Uptake and transport of radioactive nickel and cadmium into three vegetables after wet aerial contamination

Knowledge of radionuclide or trace element retention and translocation to plants following an aerial contamination event, for example, sprinkling with contaminated water, is necessary for the evaluation of human exposure through consumption of contaminated vegetables. The fate of 63Ni and 109Cd in all plant parts of three different vegetables after wet deposition on leaves or on fruits was studied. Lettuce (Lactuca sativa L.), radish (Raphanus sativus L.), and bean (Phaseolus vulgaris L.) grown under controlled conditions in a growth chamber were contaminated with 63Ni and 109Cd either on leaves, by means of two different contamination methods (a single early contamination and a repetitive one), or on bean husks (third contamination method: a single contamination at a late stage). Spiked and nonspiked organs were harvested at maturity and radionuclide contents were measured. The fraction retained was on average 56% of the initially administered doses of 63Ni and 87% of 109Cd. The leaf-to-other organ translocation factor was considerably higher for 63Ni (on average 43% of retained radioactivity) than for 109Cd (8%). Nickel-63 migrated throughout the whole plant following foliar contamination, and mainly toward young leaves, seeds in formation, and sink organs, whereas 109Cd migrated to a much lesser extent and only to the organs that were closest to the spiked one, and not at all into fruit. After a fruit contamination event, both radionuclides were translocated into the seeds of spiked fruits. Radionuclide retention and translocation were not affected by plant species, but principally by the type of organ contaminated.     

Can we infer avalanche–climate relations using tree-ring data? Case studies in the French Alps

Dendrogeomorphology is a powerful tool to determine past avalanche activity, but whether or not the obtained annually resolved chronologies are sufficiently detailed to infer avalanche–climate relationships (in terms of temporal resolution) remains an open question. In this work, avalanche activity is reconstructed in five paths of the French Alps and crossed with a set of snow and weather variables covering the period 1959–2009 on a monthly and annual (winter) basis. The variables which best explain avalanche activity are highlighted with an original variable selection procedure implemented within a logistic regression framework. The same approach is used for historical chronologies available for the same paths, as well as for the composite tree-ring/historical chronologies. Results suggest that dendrogeomorphic time series allow capturing the relations between snow or climate and avalanche occurrences to a certain extent. Weak links exist with annually resolved snow and weather variables and the different avalanche chronologies. On the contrary, clear statistical relations exist between these and monthly resolved snow and weather variables. In detail, tree rings seem to preferentially record avalanches triggered during cold winter storms with heavy precipitation. Conversely, historical avalanche data seem to contain a majority of events that were released later in the season and during episodes of strong positive temperature anomalies.     

Biomass yield and carbon abatement potential of banana crops (Musa spp.) in Ecuador

Environmental Science and Pollution Research - Banana is one of the most important agricultural products of Ecuador. It relies on intensive monoculture cropping systems with a large volume of...