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.     

Risk of amniocentesis in women screened positive for Down syndrome with second trimester maternal serum markers

In routine obstetrical practice, prior to offering invasive prenatal diagnosis, it is crucial to weigh the risks attendant on amniocentesis against the individual's risk of aneuploidy. We took advantage of a policy of follow-up of patients undergoing Down syndrome maternal serum screening to compare the rates of fetal loss before 24 weeks and of early premature delivery at 24–28 weeks between women who underwent amniocentesis and women who did not. A total of 54 902 patients entered the study, of whom 4039 (7.35%) were lost to follow-up and 387 were excluded because of a severe fetal abnormality. Of the 50 476 remaining patients, 3472 had an amniocentesis whereas 47 004 had not and served as controls. In the amniocentesis group, the fetal loss rate before 24 weeks was 1.12% (95% CI=1.08–1.15) and the 24–28 weeks premature delivery rate was 0.40% (95% CI=0.39–0.41) which was significantly higher than in controls (0.42% with 95% CI 0.41–0.43 and 0.24% with 95% CI 0.23–0.25, respectively). The 0.86% difference in adverse outcome rates between the amniocentesis and control groups may be attributable to amniocentesis and compares favourably with the positive predictive value of maternal serum markers (1.70%) observed in the present study. Copyright © 2002 John Wiley & Sons, Ltd.     

Recurrent congenital toxoplasmosis in a woman with lupus erythematosus

We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in utero with a combination of sulfadoxine and pyrimethamine, administered to the mother, and is now well. The increasing number of immunocompromised pregnant patients with immunity to Toxoplasma gondii may lead to a higher risk of reactivation of maternal toxoplasmosis and congenital infection.     

Statistical method for the determination of the ignition energy of dust cloud-experimental validation

Powdery materials such as metallic or polymer powders play a considerable role in many industrial processes. Their use requires the introduction of preventive safeguard to control the plants safety. The mitigation of an explosion hazard, according to the ATEX 137 Directive (1999/92/EU), requires, among other things, the assessment of the dust ignition sensitivity. PRISME laboratory (University of Orléans) has developed an experimental set-up and methodology, using the Langlie test, for the quick determination of the explosion sensitivity of dusts. This method requires only 20 shots and ignition sensitivity is evaluated through the E₅₀ (energy with an ignition probability of 0.5). A Hartmann tube, with a volume of 1.3 l, was designed and built. Many results on the energy ignition thresholds of partially oxidised aluminium were obtained using this experimental device (Baudry, 2007) and compared to literature. E₅₀ evolution is the same as MIE but their respective values are different and MIE is lower than E₅₀ however the link between E₅₀ and MIE has not been elucidated.In this paper, the Langlie method is explained in detail for the determination of the parameters (mean value E₅₀ and standard deviation σ) of the associated statistic law. The ignition probability versus applied energy is firstly measured for Lycopodium in order to validate the method. A comparison between the normal and the lognormal law was achieved and the best fit was obtained with the lognormal law.In a second part, the Langlie test was performed on different dusts such as aluminium, cornstarch, lycopodium, coal, and PA12 in order to determine E₅₀ and σ for each dust. The energies E₀₅ and E₁₀ corresponding respectively to an ignition probability of 0.05 and 0.1 are determined with the lognormal law and compared to MIE find in literature. E₀₅ and E₁₀ values of ignition energy were found to be very close and were in good agreement with MIE in the literature.     

Levels and trends of PCDD/Fs and PCBs in camel milk (Camelus bactrianus and Camelus dromedarius) from Kazakhstan

To date, despite the fact it represents a very important part of the national dairy production, no data are available concerning the concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), and polychlorinated biphenyls (PCBs) in camel milk from the Republic of Kazakhstan. Selected PCDDs, PCDFs, and PCBs were measured in pools of milk from camels (n=15) located in various places of Kazakhstan (Almaty, Atyrau, Aralsk, Shymkent) and sampled at two different seasons for two different species (Camelus bactrianus and Camelus dromedarius). Non-dioxin-like (NDL-)PCB concentrations (6.3±2.7 ng g(-1) fat, median 5.1 ng g(-1) fat, range 0.6-17.4 ng g(-1) fat) were far below the maximum value of 40 ng g(-1) fat proposed by the EU. Dioxin-like (DL-)PCB concentrations (1.7±0.7 ng g(-1) fat, median 1.5 ng g(-1) fat, range 0.3-4.2 ng g(-1) fat) and the NDL-PCB to DL-PCB ratio (4.3) were similar to what is reported in EU for cow-based dairy products. PCB 52 and PCB 101 appeared to be proportionally more present in Kazakh camel milk samples (>60% of the sum of the 6 indicator NDL-PCBs) than in European cow milk samples (<10% of the sum of the 6 indicator NDL-PCBs), indicating possible differences in the route of exposure to PCBs in Kazakhstan. PCB 105 and PCB 118 appeared to be present at higher concentrations in camel milk (>80% of the sum of the 12 DL-PCBs). PCB 105, PCB 118 and PCB 156 were the major congeners for DL-PCBs, accounting for 92% of the sum of concentrations of DL-PCBs (88% for Belgian cows). In terms of TEQ, PCB 126 and PCB 118 are the major contributors and represent, respectively, 80% and 14% of the DL-PCB TEQWHO05 concentrations. No significant interracial or geographical trends were observed for NDL- and DL-PCB profiles. However, concentrations of all DL-PCBs appeared to be significantly higher for samples collected in Atyrau region. 2,3,7,8-TCDD level (mean 0.08±0.07 pg g(-1) fat, median 0.08 pg g(-1) fat, range 0.00-0.18 pg g(-1) fat, 60%>LOQs) were very low for all samples and 2,3,4,7,8-PeCDF was the major contributor (27%) to the PCDD/F TEQWHO05. Considering the total TEQWHO05 (sum of DL-PCBs and PCDD/Fs), DL-PCB and PCDD/F contributed for 73% and 27%, respectively. A decrease of only 1% of the total TEQ was observed when using the TEFWHO05 scale instead of the TEFWHO98 scale. Two samples collected in the region of Atyrau exceeded the EU maximum level value of 6.00 pg TEQWHO98 g(-1) fat (6.4 pg TEQWHO05 g(-1) fat and 6.9 pg TEQWHO05 g(-1) fat). Both samples exceeded the EU action level for the sum of DL-PCBs. Based on the fact that camel milk is used to prepare popular traditional fermented drinks like shubat, this suggests that the human exposure in the Caspian Sea region of Atyrau should be expected to be higher than in the other regions studied here.     

Modeling Past and Future Acidification of Swedish Lakes

Decades of acid deposition have caused acidification of lakes in Sweden. Here we use data for 3000 lakes to run the acidification model MAGIC and estimate historical and future acidification. The results indicate that beginning in about 1920 a progressively larger number of lakes in Sweden fell into the category of “not naturally acidified” (∆pH > 0.4). The peak in acidification was reached about 1985; since then many lakes have recovered in response to lower levels of acid deposition. Further recovery from acidification will occur by the year 2030 given implementation of agreed legislation for emissions of sulphur (S) and nitrogen (N) in Europe. But the number of catchments with soils being depleted in base cations will increase slightly. MAGIC-reconstructed history of acidification of lakes in Sweden agrees well with information on fish populations. Future acidification of Swedish lakes can be influenced by climate change as well as changes in forest harvest practices.     

The toxicity of cadmium-copper mixtures on daphnids and microalgae analyzed using the Biotic Ligand Model

For the prediction of metal mixture ecotoxicity, the BLM approach is promising since it evaluates the amount of metals accumulated on the biotic ligand on the basis of water chemistry, i.e., species (major cations) competing with metals, and related toxicity. Based on previous work by Farley et al. (2015) (MMME research project), this study aimed at modeling toxicity of Cd:Cu mixtures (0:1 - 1:1 - 1:0 - 1:2 - 1:3 - 2:1 - 3:1 - 4:1 - 5:1 - 6:1) to the crustacean Daphnia magna(48-h immobilization tests) and the microalga Pseudokirchneriella subcapitata (72-h growth inhibition tests). The 2012 version of the USGS model was chosen, assuming additivity of effects and accumulation of metals on a single site. The assumption that EDTA could contribute to toxicity through metals complexing was also tested, and potential effects due to reduction of ions Ca²⁺ absorption by metals were considered. Modeling started with parameter values of Farley et al. (2015) and some of these parameters were adjusted to fit modeled data on observed data. The results show that toxicity can be correctly predicted for the microalgae and that the hypothesis of additivity is verified. For daphnids, the prediction was roughly correct, but taking into account CuEDTA led to more realistic parameter values close to that reported by Farley et al. (2015). However, It seems that, for daphnids responses, metals interact either antagonistically or synergistically depending on the Cu:Cd ratio. Furthermore, synergy could not be explained by additional effects linked to a reduction of Ca absorption since this reduction, mainly due to Cd, increased inversely to synergy. Finally, the USGS model applied to our data was able to predict Cu:Cd mixture toxicity to microalgae and daphnids, giving rise to estimated EC50s roughly reflecting EC50s calculated from observed toxicity.