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61.
Atelosteogenesis type II is a lethal chondrodysplasia characterized by severe micromelia, spinal abnormalities, talipes equinovarus, and abducted thumbs and toes. We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated. The patient had a recurrence of this disorder in a subsequent pregnancy which was terminated at 15 weeks, supporting previous reports of an autosomal recessive inheritance pattern. The feasibility of diagnosing the following morphological features by prenatal ultrasonography is demonstrated: coronal clefts of the vertebral bodies, metaphyseal and epiphyseal abnormalities, spinal deviations such as cervical kyphosis and a horizontal sacrum, additional ossification centres in the pelvis, and preaxial deviation of the thumbs and toes. The differential diagnosis of this disorder from other skeletal dysplasias with similar features is discussed.  相似文献   
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Polychlorinated aromatic hydrocarbons (HAH) like 2,3,7,8-tetrachloro-p-dioxin (TCDD) elicit a multitude of toxic and biological effects. A common trait of these substances is their affinity for a cytosolic receptor protein and the subsequent induction of the synthesis of several gene products, including cytochrome P450 1A1 (CYP 1A1). In this publication we present a bioassay to determine the induction of CYP 1A1 as a sum parameter for the total toxic potential of critical halogenated compounds in complex environmental matrices. In order to eliminate compounds like polycyclic aromatic hydrocarbons (PAH) and naturally occurring substances which might interfere with the bioassay we developed a simple cleanup procedure. TEQ values derived from bioassay are in good agreement with those obtained from chemical analysis. This bioassay in combination with the simplified “single column” clean up represents a cost and time effective alternative to chemical analysis for the screening of large numbers of environmental matrices.  相似文献   
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Background, aim and scope

After the discovery of chloroform in drinking water, an extensive amount of work has been dedicated to the factors influencing the formation of halogenated disinfections by-products (DBPs). The disinfection practice can vary significantly from one country to another. Whereas no disinfectant is added to many water supplies in Switzerland or no disinfectant residual is maintained in the distribution system, high disinfectant doses are applied together with high residual concentrations in the distribution system in other countries such as the USA or some southern European countries and Romania. In the present study, several treatment plants in the Somes river basin in Romania were investigated with regard to chlorine practice and DBP formation (trihalomethanes (THMs)). Laboratory kinetic studies were also performed to investigate whether there is a relationship between raw water dissolved organic matter, residual chlorine, water temperature and THM formation.

Materials and methods

Drinking water samples were collected from different sampling points in the water treatment plant (WTP) from Gilau and the corresponding distribution system in Cluj-Napoca and also from Beclean, Dej and Jibou WTPs. The water samples were collected once a month from July 2006 to November 2007 and stored in 40-mL vials closed with Teflon lined screw caps. Water samples were preserved at 4°C until analysis after sodium thiosulfate (Na2S2O3) had been added to quench residual chlorine. All samples were analysed for THMs using headspace GC-ECD between 1 and 7 days after sampling. The sample (10 mL) was filled into 20-mL headspace vials and closed with a Teflon-lined screw cap. Thereafter, the samples were equilibrated in an oven at 60°C for 45 min. The headspace (1 mL) was then injected into the GC (Cyanopropylphenyl Polysiloxane column, 30 m × 53 mm, 3 μm film thickness, Thermo Finnigan, USA). The MDLs for THMs were determined from the standard deviation of eight standards at 1 μg/L. The MDLs for CHCl3, CHBrCl2, CHBr2Cl and CHBr3 were 0.3, 0.2, 0.3 and 0.6 μg/L, respectively. All kinetic laboratory studies were carried out only with water from the WTP Gilau. The experiments were conducted under two conditions: baseline conditions (pH 7, 21°C, 2.5 mg/L Cl2) to gain information about the change of the organic matter in the raw water and seasonally variable conditions to simulate the actual process at the treatment plant and the distribution system.

Results and discussion

This study shows that the current chlorination practice in the investigated plants complies with the THM drinking water standards of the EU. The THM concentrations in all samples taken in the four treatment plants and distributions systems were below the EU drinking water standard for TTHMs of 100 μg/L. Due to the low bromide levels in the raw waters, the main THM formed in the investigated plants is chloroform. It could also be seen that the THM levels were typically lower in water supplies with groundwater as their water resource. In one plant (Dej) with a pre-ozonation step, a significantly lower (50%) THM formation during post-chlorination was observed. Laboratory chlorination experiments revealed a good correlation between chloroform formation and the consumed chlorine dose. Also, these experiments allowed a semi-quantative prediction of the chloroform formation in the distribution system of Cluj-Napoca.

Conclusions

CHCl3 was the most important trihalomethane species observed after the chlorination of water in all of the sampled months. However, TTHM concentrations did not exceed the maximum permissible value of 100 μg/L (EU). The THM formation rates in the distribution system of Cluj-Napoca have a high seasonal variability. Kinetic laboratory experiments could be used to predict chloroform formation in the Cluj-Napoca distribution system. Furthermore, an empirical model allowed an estimation of the chloroform formation in the Gilau water treatment plant.

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Background, aim and scope  

After the discovery of chloroform in drinking water, an extensive amount of work has been dedicated to the factors influencing the formation of halogenated disinfections by-products (DBPs). The disinfection practice can vary significantly from one country to another. Whereas no disinfectant is added to many water supplies in Switzerland or no disinfectant residual is maintained in the distribution system, high disinfectant doses are applied together with high residual concentrations in the distribution system in other countries such as the USA or some southern European countries and Romania. In the present study, several treatment plants in the Somes river basin in Romania were investigated with regard to chlorine practice and DBP formation (trihalomethanes (THMs)). Laboratory kinetic studies were also performed to investigate whether there is a relationship between raw water dissolved organic matter, residual chlorine, water temperature and THM formation.  相似文献   
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