Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

A contact sex pheromone component of the emerald ash borer Agrilus planipennis Fairmaire (Coleoptera: Buprestidae)

Analyses of the elytral hydrocarbons from male and female emerald ash borer, Agrilus planipennis Fairmaire, that were freshly emerged vs. sexually mature (>10 days old) revealed a female-specific compound, 9-methyl-pentacosane (9-Me-C₂₅), only present in sexually mature females. This material was synthesized by the Wittig reaction of 2-decanone with (n-hexadecyl)-triphenylphosphonium bromide followed by catalytic reduction to yield racemic 9-Me C₂₅, which matched the natural compound by gas chromatography/mass spectrometry (retention time and EI mass spectrum). In field bioassays with freeze-killed sexually mature A. planipennis females, feral males spent significantly more time in contact and attempting copulation with unwashed females than with females that had been washed in n-hexane to remove the cuticular lipids. Hexane-washed females to which 9-Me-C₂₅ had been reapplied elicited similar contact time and percentage of time attempting copulation as unwashed females, indicating that 9-methyl-pentacosane is a contact sex pheromone component of A. planipennis. This is the first contact sex pheromone identified in the Buprestidae.     

Towards a climate change adaptation strategy for coffee communities and ecosystems in the Sierra Madre de Chiapas, Mexico

The mountain chain of the Sierra Madre de Chiapas in southern Mexico is globally significant for its biodiversity and is one of the most important coffee production areas of Mexico. It provides water for several municipalities and its biosphere reserves are important tourist attractions. Much of the forest cover outside the core protected areas is in fact coffee grown under traditional forest shade. Unless this (agro)forest cover can be sustained, the biodiversity of the Sierra Madre and the environmental services it provides are at risk. We analyzed the threats to livelihoods and environment from climate change through crop suitability modeling based on downscaled climate scenarios for the period 2040 to 2069 (referred to as 2050s) and developed adaptation options through an expert workshop. Significant areas of forest and occasionally coffee are destroyed every year by wildfires, and this problem is bound to increase in a hotter and drier future climate. Widespread landslides and inundations, including on coffee farms, have recently been caused by hurricanes whose intensity is predicted to increase. A hotter climate with more irregular rainfall will be less favorable to the production of quality coffee and lower profitability may compel farmers to abandon shade coffee and expand other land uses of less biodiversity value, probably at the expense of forest. A comprehensive strategy to sustain the biodiversity, ecosystem services and livelihoods of the Sierra Madre in the face of climate change should include the promotion of biodiversity friendly coffee growing and processing practices including complex shade which can offer some hurricane protection and product diversification; payments for forest conservation and restoration from existing government programs complemented by private initiatives; diversification of income sources to mitigate risks associated with unstable environmental conditions and coffee markets; integrated fire management; development of markets that reward sustainable land use practices and forest conservation; crop insurance programs that are accessible to smallholders; and the strengthening of local capacity for adaptive resource management.     

Integrated assessment of future CAP policies: land use changes,spatial patterns and targeting

The recent and upcoming reforms of the Common Agricultural Policies (CAPs) aim at strengthening the multifunctional role of agriculture, acknowledging the differences in economic, environmental and social potentials within European regions. This paper presents results from an integrated assessment of existing and future policies within the framework set up in the FP6 EU project MEA-Scope. Spatial explicit procedures allow for the MEA-Scope modelling tools to provide information related to regional, environmental and socio-economics settings. The impact of different policy scenarios on structural change, land abandonment and cropping pattern of typical farms has been assessed based on linked agent-based (ABM) and Linear Programming (LP) models at regional and farm scale for two study areas. For the German case study area Ostprignitz-Ruppin (OPR), the issue of policy targeting has been addressed by relating non-commodity outputs (NCOs) to soil quality and protection status. For the Italian case study area (Mugello), changes in landscape patterns in terms of increased fragmentation or homogeneity as affected by changes in agricultural intensity have been analysed using semivariance analysis. The spatial explicit approach highlighted the relevance of case study research in order to identifying response structures and explaining policy implementation patterns.     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

Fetal cholecystomegaly: A prenatal marker of aneuploidy

The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19–31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one woman underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.     

University ranking using research,educational and environmental indicators

This paper introduces a model, which is enabling a comparison between universities regarding research, educational and environmental performances; the mission of university fits the sustainability idea. The purpose of the paper is to improve the methodology and indicators of the existing ranking tables. The three dimensional index, which provides simplified information about the quality of universities, has been developed. It enables quick detection of the weaknesses, strengths and opportunities for universities. Weights of indicators were determined using the analytic hierarchy process (AHP). Results of the AHP have shown that the most important are research oriented indicators, followed by social and environmental ones.The proposed model has been tested on a sample of 35 top universities from the ARWU (Academic Ranking of World Universities) and Times ranking tables and a new ranking table – the Three dimensional University Ranking (TUR) has been developed. In addition, correlations between indicators and ranking tables have been carried out. There is only a medium correlation between the ARWU and TUR. Regarding the indicators, a high correlation with Hirsch indices and Highly Cited Researchers exists, while there is an insignificant correlation between the low student to staff ratio and the graduation rate.