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.     

Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant

A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.     

Metabolomic analysis of the selection response of Drosophila melanogaster to environmental stress: are there links to gene expression and phenotypic traits?

We investigated the global metabolite response to artificial selection for tolerance to stressful conditions such as cold, heat, starvation, and desiccation, and for longevity in Drosophila melanogaster. Our findings were compared to data from other levels of biological organization, including gene expression, physiological traits, and organismal stress tolerance phenotype. Overall, we found that selection for environmental stress tolerance changes the metabolomic ¹H NMR fingerprint largely in a similar manner independent of the trait selected for, indicating that experimental evolution led to a general stress selection response at the metabolomic level. Integrative analyses across data sets showed little similarity when general correlations between selection effects at the level of the metabolome and gene expression were compared. This is likely due to the fact that the changes caused by these selection regimes were rather mild and/or that the dominating determinants for gene expression and metabolite levels were different. However, expression of a number of genes was correlated with the metabolite data. Many of the identified genes were general stress response genes that are down-regulated in response to selection for some of the stresses in this study. Overall, the results illustrate that selection markedly alters the metabolite profile and that the coupling between different levels of biological organization indeed is present though not very strong for stress selection at this level. The results highlight the extreme complexity of environmental stress adaptation and the difficulty of extrapolating and interpreting responses across levels of biological organization.     

Climate change mitigation and international finance: the effectiveness of the Clean Development Mechanism and the Global Environment Facility in India and Brazil

This study analyzes the effectiveness and efficiency of the two principal United Nations (UN) climate change mitigation finance mechanisms, the Clean Development Mechanism (CDM) and the Global Environment Facility (GEF). The realised abatement and costs of the two mechanisms in India and Brazil (using data from 28 GEF and 233 CDM project documents) are compared with theoretical marginal abatement cost curves, based on bottom-up technology studies. We find that both mechanisms have focused on negative and low-cost abatement potential but still leave substantial theoretical potential in this cost range untapped. CDM has more effectively harvested abatement potential of industrial gases and methane emissions, whereas GEF has more successfully targeted demand-side energy efficiency (EE) and transport emission reduction opportunities. CDM has excelled at capturing abatement potential in areas with a limited understanding of abatement, highlighting the shortcomings of theoretical estimates (such as Marginal Abatement Cost Curves) and the benefits of a market mechanism. In some sectors and technologies (particularly renewable energy), the two mechanisms overlapped, which suggests a need for better coordination in the future.     

Optimizing the biodiversity gain from agri-environment schemes

How best to optimize the biodiversity gain from agri-environment schemes (AES) has recently been identified as a key policy-relevant question. Here, the effects of two features of lowland agricultural landscapes on the abundance and diversity of larger moths are contrasted. Although both features bring about positive effects, hedgerow trees have a larger impact than 6 m wide grassy field margins. Whilst AES payments are given to create and maintain grass margins, no financial reward is currently offered for the retention of hedgerow trees. Furthermore, it was only in areas where the amount of land under AES was experimentally increased, by targeting farmers, that the presence of hedgerow trees resulted in a substantially higher abundance (+60%) and diversity (+38%) of moths. Thus, by using larger moths as bio-indicators of landscape-scale quality, it is demonstrated that improvements to the cost-effectiveness of AES could be achieved, firstly, by providing more appropriate financial rewards to farmers for different landscape features, and secondly, through landscape-scale targeting of farmers to encourage participation in AES.     

The response of a mid- and high latitude peat bog to predicted climate change: methane production in a 12-month peat incubation

There are fears that global warming will lead to degradation of peatlands, higher emissions of greenhouse gases from peat, and accelerated warming. Anaerobic decomposition of organic soils produces methane (CH₄), a potent greenhouse gas. Two peat bogs differing in mean annual temperature, Velke Darko (VD, Czech Republic, 7.2 °C), and Stor Åmyran (SA, Sweden, 4.0 °C), were selected for a comparative study of how organic soils in different climatic zones will respond to warmer and drier conditions. Twenty peat cores from each bog were incubated in growth chambers. Under present-day summer conditions, VD produced 14 times more CH₄ than SA. Two different warming scenarios were used. Peat-core replicates were kept at temperatures of 11 versus 16 °C, and 11 versus 22 °C. From 11 to 16 °C, the CH₄ production slightly decreased at SA, and slightly increased at VD. From 11 to 22 °C, the CH₄ production increased 9 times at SA, but slightly decreased at VD. After an 8-month incubation, peat cores under drying conditions (water table at ?14 cm) were compared to samples with original water table (?2 cm). Drying conditions led to a steeper reduction in CH₄ production at VD, compared to SA. The CH₄ production decreased more than 100 times at VD. Then, the combined effect of simultaneous warming and drying at 11 and 22 °C was studied. We did not find any significant effect of interactions between increasing temperature and decreasing water table level. Overall, the warmer site VD responded more strongly to the simulated climate change than the colder site SA.     

First Castorid (Mammalia,Rodentia) from the Middle Miocene of Southeast Asia

Today and in the Tertiary, the geographical distribution of castorids is limited throughout all of the northern continents. Fossils of the Castoridae genus Steneofiber are abundant in many localities of Eurasia from the late Oligocene to Pliocene period. Recently, Steneofiber fossils were discovered in two localities of northern Thailand, Mae Moh and Chiang Muan coal mines, in layers of late middle Miocene age. These discoveries represent the first records of castorids from Southeast Asia and correspond to their southernmost known range. The focus of this study is to describe this new Thai species of Steneofiber and to define its wear stages from the molar occlusal surfaces by using micro-CT scan analysis. The CT scan technique permits the analysis of the virtual occlusal surface changes from wear, allowing easier comparison to related species of Steneofiber cheek teeth without destroying the teeth. The new species, Steneofiber siamensis n. sp., can be distinguished from the other species of Steneofiber by several distinct characters, longer mesostriid on p4, presence of premesostria and metastria on P4, which are smaller than most of the other known species. The occurrence of this new castorid also supports a subtropical to tropical paleoclimate for these two localities of northern Thailand.