The spontaneous resolution of cystic hygromas and early fetal growth delay in fetuses with trisomy 18

The spontaneous resolution of cystic hygromas in fetuses with trisomy 18 may be due to a delay in lymphatic-vascular anastomosis. The severity of growth delay with trisomy 18 appears to be variable in time of onset and extent.     

The possibility of prenatal diagnosis by gene dosage: Confirmation of duplication 10q24→qter from Got-l activity in fetal erythrocytes

The activity of four enzymes, including GOT-1, has been investigated in the erythrocytes of a 10q→24qter trisomic fetus. Analyses have been performed on a feto-maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion. The demonstration of a 40 percent increase of GOT-1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations. Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.     

Artisanal and small-scale gold mining in Burkina Faso: Suggestion of multi-agent methodology as a complementary support in elaborating a policy

In order to better manage artisanal and small-scale gold mining, the Burkinabe authorities have planned to build a suitable methodological support as an aid to elaborating appropriate policies and actions. The developed methodology concerns (a) at a spatial level, the generation and analysis of a geological resources map needed by the artisanal miners and (b) at a socioeconomic level, analysis of the miners' activity. This paper reports and discusses the results of our suggestion to also introduce the use of an approach known as multi-agent system (MAS) as a complementary part of this initial methodology, at a downstage level to the above two analysis stages. MAS methodology could be used to develop simulation models to forecast the future of the activity. MAS is appropriate for describing the dynamics of systems where it is impossible to obtain all output data of a model from a purely mathematical or statistical transformation of input data. Our suggestion involves (i) demonstrating the capacity of the approach to simulate all parameters needed by mining policy makers and (ii) evaluating to what extent the methodology is accepted by them, as well as, at a more scientific level, the literature regarding mining system simulation.     

CSR in metallurgy sector in Greece: A content analysis

Corporate Social Responsibility (CSR) has become one of the most widespread business topics among the academic community. Various issues like environmental pollution, economic crisis, corruption, poverty are of major importance these days and besides governments and policy makers responsibility it is obvious that corporations are also part of these problems. In Europe the last 15 years, governments, NGOs, small and large enterprises are making an effort to establish in their business CSR strategies so as to become more competitive and innovative in the global market. The research presents the way 8 Greek companies from the metallurgy sector publish CSR activities and which dimensions of CSR are more common among Greek companies. The companies were selected according to a study of ICAP Group about CSR and Leading Employers in Greece. The findings reveal how Greek companies during the economic crisis make their effort to be more active especially on environmental issues, human resources, health and safety and contribution to local communities. The results of their efforts are controversial as far as their CSR strategy concerns.     

Do energy efficiency standards hurt consumers? Evidence from household appliance sales

We build novel welfare-based price indices for major household appliances that leverage changes in same-model prices and how consumers substitute between exiting, continuing and new models. We then evaluate how minimum energy efficiency requirements and changing criteria for Energy Star™ labels affected these indices in the U.S. between 2001 and 2011, a period of time when some appliances experienced standard changes while others did not. We find that prices declined while quality and consumer welfare increased, especially when standards become more stringent. We also find that much of the price index decline can be attributed to standards-induced innovation, or cannibalism, not to inter-manufacturer competition. Our results also add to a growing body of evidence that the Consumer Price Index exaggerates inflation due to inadequate account of quality and substitution to new goods.     

Pallister Killian-mosaic tetrasomy 12 p syndrome. Another prenatally diagnosed case

A new case of mosaic tetrasomy 12 p (46, XY/47, XY, + i 12 p), diagnosed during pregnancy from ultrasonographic signs, is reported. We emphasize the peculiar position of the diaphragmatic hernia in this syndrome. Its presence or absence determines the vital prognosis and the age of diagnosis. The knowledge of its possible association with tetrasomy 12 p can contribute considerably to the neonatal diagnosis by directing the work of the cytogeneticist to tissue cultures which enable him to detect the presence of the tetrasomy.     

Prospective intervention trial of a screening protocol to identify fetal trisomy 18 using maternal serum alpha-fetoprotein,unconjugated oestriol,and human chorionic gonadotropin

Two prenatal centres in New England, routinely using a screening protocol for fetal Down syndrome that included maternal serum alpha-fetoprotein (AFP), unconjugated oestriol (uE3), and human chorionic gonadotropin (hCG) measurements in combination with maternal age, adopted a separate screening protocol for trisomy 18. That protocol identified a pregnancy as being at high risk when AFP, uE3, and hCG measurements all fell at or below specified cut-offs (0.75, 0.60, and 0.55 multiples of the median, respectively), regardless of maternal age. Among the first 19 491 women screened, 98 (0.5 per cent) were found to have values which placed them in the high-risk category. Four of these women were subsequently found not to be pregnant. In two others, samples from non-pregnant individuals were found to have been incorrectly submitted for analysis in place of the samples from the pregnant women. All of the remaining 92 women were counselled and offered amniocentesis and fetal karyotyping. Eighty-eight (96 per cent) accepted. Karyotypes or birth outcomes were available on all 92 pregnancies. Six cases of trisomy 18 and one case of Turner syndrome were identified by karyotype. One case of trisomy 18 was identified for every 14 unaffected pregnancies offered amniocentesis. In the present prospective study, an estimated 85 per cent of the cases of trisomy 18 were identified. However, given the small number ofcases (six), the 95 per cent confidence interval for the detection rate is broad (40–95 per cent).