Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a rare and severe disorder. The high frequency of sporadic cases, vertical transmission, and the excess of sibs affected via horizontal transmission suggest dominant autosomal mutation with possible germinal mosaicism. The vertical familial case detailed in the present report is a reminder of the high risk when one parent or one sibling is affected and the extreme variability of phenotype and costal ossification. Early prenatal ultrasound diagnosis is possible in a severely affected fetus. Copyright © 2001 John Wiley & Sons, Ltd.     

Integration of the recycling processes to the life cycle analysis of construction products

The life cycle analysis of a product enables one to assess its environmental quality. A simple, transparent method taking into account the processes of recycling in the life cycle is developed here. It permits dealing with all types of open loops of all sectors. The principles on which the proposed method is grounded are discussed.     

Ambient air concentrations of polychlorinated dibenzo-p-dioxins and dibenzofurans in Ohio: Sources and health risk assessment

PCDD and PCDF were measured in air samples collected in Ohio in 1987. No 2,3,7,8-TCDD was detected in any of the samples with a detection limits of less than 240 fg/m³. Using a chemical mass balance model applied to PCDD/PCDF congener group profiles, major potential sources of these compounds to the atmosphere in Ohio were determined to be municipal solid waste combustion, and sewage sludge combustion. Cancer risk calculations for inhalation of PCDD/PCDF in ambient air in Ohio are approximately 10–6. Given the current knowledge of the health effects of exposure to PCDD/PCDF in air, there is no appreciable risk to public health for the levels of these compounds found in ambient air in Ohio.     

Structure dependent induction of CYP1A by polychlorinated biphenyls in hepatocytes of male castrated pigs

Hepatocytes cultures prepared from castrated pig hepatocytes (Great Yorkshire x Dutch Landrace), as a model for human liver, were used to study the effect of twenty polychlorinated biphenyls (PCBs) on CYP1A activity, measured as the dealkylation of either ethoxyresorufin or methoxyresorufin. The selection of the PCBs was based on their differences in physico-chemical properties. The non-ortho and mono-ortho substituted PCBs were the most potent CYP1A inducers in pig hepatocytes. In addition, several multiple-ortho substituted congeners, with five or more chlorine atoms, were inducers of CYP1A activity as well. Their relative effect potencies (REP) were proximately 10,000 times lower than the most potent congener, 3,3',4,4',5 PeCB (PCB#126). Using partial least-squares (PLS) modeling, predictions of CYP1A activity could be made for all tetra to hepta substituted congeners. Several multiple-ortho substituted PCBs, which are highly abundant in the biotic and abiotic environment, have been found to induce CYP1A activity in pig hepatocytes. Because induction of CYP1A activity is used as biomarker for Ah-receptor mediated responses, it is suggested to include these congeners in future risk assessment.     

Low bone density and renal dysfunction following environmental cadmium exposure in China

This paper presents the main findings of a study on health effects of environmental cadmium pollution in China, performed in 1998, i.e. approximately 25 years after the first warnings of such effects were published in Ambio. Forearm bone mineral density (BMD) and renal dysfunction were assessed in population groups exposed to cadmium via rice. Decreased BMD was found in postmenopausal women with elevated urinary cadmium (CdU) or cadmium in blood (CdB) and among men with elevated CdB. Also, clear and statistically significant dose-effect and dose-response relationships were found between CdB or CdU and renal dysfunction (increased excretion of retinol-binding protein). This is the first report of bone effects among Cd-exposed population groups in Asia outside Japan. The report is also of interest since it demonstrates that bone effects, a comparatively severe adverse health effect of Cd, in combination with renal dysfunction, still occurs in environmentally exposed population groups in Asia. Recent reports on bone effects in Cd-exposed population groups in Europe are discussed.     

Measuring the effect of photocatalytic purifiers on indoor air hydrocarbons and carbonyl pollutants

Laboratory tests of photocatalytic air purifiers are usually performed with a single pollutant, in the parts per million by volume domain and at airflow rates < or =0.1 m3/hr. Clearly, it is necessary to probe photocatalytic materials and apparatuses under real conditions or conditions closely mimicking reality. Photocatalytic prototypes were placed in an ordinary room. To collect hydrocarbons over a shorter period (15 min) than with adsorbent-containing cartridges, solid-phase microextraction (SPME) was used. Typically, concentrations in substituted benzene hydrocarbons and tetrachloroethene were decreased to 20-35% of initial values; toluene and m- + p-xylene concentrations dropped to 2-6 parts per billion by volume, and o-xylene and benzene concentrations were still lower. In the absence of appropriate, commercialized SPME fibers, carbonyl compounds (both formed and destroyed by photocatalysis) were extracted using cartridges containing 2,4- dinitrophenylhydrazine-coated silica. The concentration ranges (in parts per billion by volume) were shifted to higher values in treated air: from 9-15.5 to 12.5-18 for methanal, from 1.5-3 to 8-11.5 for ethanal, and from 4.5-19 to 8-26.5 for propanone with the prototype used; these unprecedented results do not exclude using photocatalysis to treat air, but they illustrate that improvement is needed. Because these tests are time-consuming, preliminary tests are useful; results obtained with a 225-L closed-loop, airtight, photocatalytic reactor with an external turbine enabling the ambient air inside the reactor to be circulated through the purifier device at 15-450 m3/hr flow rates are reported.     

Development of emission factors for polycarbonate processing

Emission factors for selected volatile organic compounds (VOCs) and particulate emissions were developed while processing eight commercial grades of polycarbonate (PC) and one grade of a PC/acrylonitrile-butadiene-styrene (ABS) blend. A small commercial-type extruder was used, and the extrusion temperature was held constant at 304 degrees C. An emission factor was calculated for each substance measured and is reported as pounds released to the atmosphere/million pounds of polymer resin processed [ppm (wt/wt)]. Scaled to production volumes, these emission factors can be used by processors to estimate emission quantities from similar PC processing operations.     

Euro Chlor Risk Assessment for the Marine Environment Osparcom Region: North Sea - Tetrachloroethylene

This risk assessment on tetrachloroethylene (PER) was carried out specifically for the marine environment, according to the methodology laid down in the EU risk assessment Regulation (1488/94) and the Guidance Document of the EU New and Existing Substances Regulation (TGD, 1997). The study consists of the collection and evaluation of data on effects and environmental concentrations from analytical monitoring programs in large rivers and estuaries in the North Sea area. The risk is indicated by the ratio of the "predicted environmental concentrations" (PEC) and the "predicted no effect concentrations" (PNEC) for the marine aquatic environment. In total, 18 studies for fish, 13 studies for invertebrates and 8 studies for algae have been evaluated. Both acute and chronic toxicity studies have been taken into account and the appropriate assessment factors have been used to define a PNEC value of 51 µg/l. Most of the available monitoring data apply to rivers and estuary waters and were used to calculate PECs. The most recent data (1991-1995) support a typical PEC of 0.2 µg PER/l water and a worst case PEC of 2.5 µg PER/l water. The calculated PEC/PNEC ratios give a safety margin of 20 to 250 between the predicted no effect concentration and the exposure concentration. Additional evaluation of environmental fate and bioaccumulation characteristics showed that no concern is expected for food chain accumulation.