Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

Genetic counseling for prenatal diagnosis of autosomal trisomy is complex because of the uncertainty of outcome, which is important for management decisions. Compilation of cases of prenatally diagnosed autosomal trisomies in amniocytes has been done previously in an attempt to elucidate the clinical phenotype of these pregnancies. It has been greater than a decade since these studies were completed. To update this work, we reviewed cases reported in the literature since that time. These cases are correlated with the prior reports to increase knowledge about outcomes and to hopefully improve the data available for genetic counseling. The risk of abnormal outcome can be summarized as: very high risk (>60%) for 47,+2/46; 47,+9/46; 47,+16/46; 47,+20/46; and 47,+22/46; high risk (40–59%) for 47,+5/46; 47,+14/46; and 47,+15/46; moderately high risk (20–39%) for 47,+7/46 47,+12/46; and 47,+17/46; moderate risk (up to 19%) for 47,+6/46 and 47,+8/46, and none were low risk. 47,+6/46 was originally indeterminate, 47,+7/46 was originally moderate risk, 47,+9/46 was originally high risk, and 47,+17/46 was originally low risk. © 2015 John Wiley & Sons, Ltd.     

Biofiltration of gas-phase hexane and toluene mixture under intermittent loading conditions

This paper reports the performance of a compost biofilter subjected to periodic intermittent loads of gas-phase hexane and toluene. The biofilter was operated for 10 h per day, at different empty bed residence times (4, 2 and 1.3 min), and at different inlet concentrations of hexane and toluene, varying between 2 and 3.8 g m^?3, respectively. Steady-state removal efficiency profiles, reaching more than 90% for both the pollutants, was observed after 44 days of operation. Periodic operation of the compost biofilter was characterized by an adsorption step, followed by biological conversion of the pollutants by the microorganisms inherent to the compost. After resuming daily biofilter operation, the required times for biochemical reaction to dominate the initial adsorption step was observed to be 2.5 and 1 h, respectively, for toluene and hexane. The maximum elimination capacity due to the biological step was found to be 61.6 g m^?3 h^?1. The results from this study showed the effectiveness of the biofilter to handle mixtures of gas-phase pollutants, subjected to regular intermittent operations, thus proving their worthiness for industrial use.     

Ethmocephaly caused by de novo translocation 18;21—prenatal diagnosis

Ethmocephaly is a rare anomaly associated with partial failure of cleavage of the prosencephalon. Morphologically, it is closely related to cyclopia. We present an extremely rare case of ethmocephaly diagnosed in utero and caused by an unbalanced de novo translocation 18;21. Copyright © 2003 John Wiley & Sons, Ltd.     

Energy efficiency and energy rebound,intensity, and output effects in transport sector of Pakistan

Environmental Science and Pollution Research - According to Jevon’s paradox, energy efficiency leads to more energy consumption instead of low. So, calculating the size of energy rebound...     

Persistent organohalogen contaminants in plasma from groups of humans with different occupations in Bangladesh

The present study is aimed to assess persistent organic halogenated pollutants in humans living in Bangladesh. The results are compared to other similar studies in the region and globally. Human blood plasma were collected from groups of men and women with different occupations, i.e. being students, garment industry workers, employees at the Power Development Board (PDB), all groups in Dhaka, fishermen and fishermen wife's from Dhaka and another group from Barisal district. The plasma was analysed for hexachlorobenzene (HCB), the hexachlorocyclohexane isomers, alpha-HCH, beta-HCH, gamma-HCH and delta-HCH, the DDT group of chemicals, chlordane compounds, trans-chlordane, cis-chlordane, oxychlordane, trans-nonachlor, trans-heptachlorepoxide, methoxychlor and mirex. The most abundant contaminant, in all groups studied, p,p'-DDE is dominating, with p,p'-DDT/Sigma DDT ratios indicating recent and ongoing DDT exposure. Among the other pesticides analysed beta-HCH is the most abundant indicating the use of technical HCH products instead of Lindane (gamma-HCH). While the Sigma DDT is present in the low ppm range the beta-HCH is detected in up to approx. 400 ppb, lipid basis. The beta-HCH is most abundant in the groups of students. In contrast to the pesticides analysed very low concentrations of polychlorinated biphenyls (PCB) are present in all study groups, with e.g. CB-153 in the range of 5-30 ng g(-1) fat. The concentrations of the DDT group of chemical differ significantly between fishermen and fishermen's wives living and working in the Dhaka area versus those living and working in Barisal. Also, fishermen and their wives had significantly different concentrations of DDT compared to garment industry workers.     

Campylobacter coli infection causing second trimester intrauterine growth restriction (IUGR): a case report and review of the literature

Campylobacter is a gram-negative, microaerophilic, curved rod and a normal resident of the gastrointestinal flora and may be the cause of disease in animals. Transmission to humans occurs by ingestion of contaminated food or by direct contact with infected animals. In the past few decades, an increasing number of reports have implicated the presence of this organism in human abortions as well. An infectious mechanism due to primary placental inflammatory damage followed by secondary damage to the fetus following placental insufficiency and ischemia was suggested. The most common species of Campylobacter are Campylobacter jejuni and Campylobacter coli, which are classically associated with enteritis in humans. We present a rare case of mid-gestation intrauterine growth restriction (IUGR) associated with maternal bacteremia caused by C. coli infection. Our literature review focuses on Campylobacter infections occurring in the second and third trimesters of pregnancy. In all cases, mild maternal symptoms consisting of fever and weakness were presented. However, associated adverse fetal outcome, including abortions, IUGR or preterm labor may occur more frequently than anticipated. Our report strengthens the importance of awareness to this finding and focuses the need to consume properly cooked meat during pregnancy. © 2015 John Wiley & Sons, Ltd.     

Environmental policy expansion in the EU: the intriguing case of bioinvasion regulation

ABSTRACT

While bioinvasion was an issue of low political salience in Europe, a new regulation addressing it was adopted in 2014 with strong support. This article analyzes the making of the regulation as an intriguing case of policy expansion amid economic crisis. Based on theoretical literature on drivers of EU policy integration and policy dismantling, alternative plausible explanations are explored. Our main finding is that development of economic policy consensus among member states on trade-environment nexus was crucial for progress towards regulatory action. Policy consensus has been driven by a confluence of three domestic factors: trade liberalization, market disintegration, and changing ideas about the desirability of EU-level law, with the European Commission as policy entrepreneur. Low political salience has also had an important effect. It has increased the influence of transnational conservation alliances, which have played a significant catalytic role in building consensus by shifting consciousness to economic reward of policy action vs inaction, and bringing international models for legislative reform to the EU jurisdiction.     

Environmental exposure to POPs and heavy metals in urban children from Dhaka, Bangladesh

Persistent organic pollutants (POPs) and heavy metals are well known environmental pollutants. Even though numerous studies have been carried out to assess human exposures to these compounds, there is still a lack of data on humans from developing countries, especially in underprivileged children. The objective of this study was to assess the exposure to POPs and heavy metals in children from Dhaka, Bangladesh. One specific aim was to investigate whether children working at, or living close to, open waste disposal sites (WDSs) were more heavily exposed than other urban children. In 2008, blood and serum were collected from 73 children aged 7-16 from five neighbourhoods. Some of the children lived and worked at WDSs (N = 31), others lived next to a WDS (N = 17), whereas some children lived far from such sites (N = 25). Blood levels of lead (B-Pb), cadmium (B-Cd), and selenium (B-Se) were determined by ICP-MS for all subjects. The metal levels were high, with B-Pb overall mean 120 μg L(-1) (range 40-220), B-Cd 0.74 μg L(-1) (0.22-4.1), and B-Se 120 μg L(-1) (81-170). There were no marked differences between children from the different neighbourhoods, or between WDS workers and other children. PCB levels were low and with no contrast between neighbourhoods, for CB-153 the overall mean was 7.0 ng g(-1) fat (2.8-51). In contrast, high levels of DDTs were observed in all children, for 4,4'-DDE 1300 ng g(-1) fat (420-4600), and for 4,4'-DDT 326 ng g(-1) fat (44-1400), indicating ongoing exposure. PBDE levels were low, and BDE-209 was quantitated mainly in children working at or living close to WDSs. In conclusion, the high levels of DDTs, lead and cadmium observed in children from Dhaka are of concern. Many children were exposed at levels where health effects have been observed, or at levels without safety margins.