The cerebro-hepato-renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP-AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP-AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP-AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP-AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP-AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.     

A survey of diagnostic amniocenteses in Oxford from 1974–1981

A survey was conducted of the results of mid-trimester diagnostic amniocenteses in the Oxford Region from 1974 to 1981. The survey used data relating to all 4357 singleton pregnancies in which an amniocentesis was performed during this period. Follow-up information on outcome was obtained in respect of 4284 (98 per cent) pregnancies. A cell culture to determine karyotype and an alpha-fetoprotein determination was carried out in all cases. From 1974 to 1981 amniocenteses became increasingly common, rising from 2 to 32 per 1000 births. The most common indication for amniocentesis was a high risk of a chromosome abnormality–56 per cent of all amniocenteses. Within this group advanced maternal age was responsible for 89 per cent of the cases. The next most common indication was a high risk of a neural tube defect (37 per cent of all amniocenteses)–in 1974 a raised maternal serum alpha-fetoprotein level accounted for only 4 per cent of these; by 1981 this had risen to 67 per cent. There were seven false-positive and 132 true-positive diagnoses of neural tube defect; since 1981, with the introduction of amniotic fluid acetylocholinesterase determination as a secondary diagnostic test for neural tube defects, there have been no further false-positive diagnoses. In 1981 76 per cent of women aged 35 years or more did not have an amniocentesis. It is not known to what extent this was due to not offering women in this age group amniocentesis or to women not accepting such an offer.     

The determinants mostly disclosed by companies that are members of the Carbon Disclosure Project

Concerns about climate change as a result of anthropic actions have led to an increase in the volume of information disclosed about it in the reports of companies that are members of the Carbon Disclosure Project (CDP). In this context, the factors most disclosed remain obscure due to both the complexity of climate change impacts and the stakeholders’ different interests. This study aims to identify which factors are most disclosed in the reports of companies that are members of CDP. For this purpose, it is necessary to investigate if the factors indicated by managers and experts are the main ones disclosed in the reports of Brazilian companies that are members of CDP, as well as to identify which companies stand out in climate change disclosure based on these factors. To this end, 463 reports submitted by 48 companies between 2014 and 2016 were examined and 32 factors were investigated using the NVivo® software. Some companies submitted reports with unified titles, which reduced the sample. The results indicate that certain factors—prevention of pollution, prevention of loss, management of environmental assets, volume of greenhouse gas (GHG) emissions, and climate change strategy—account for 50.03% of the total volume of information disclosed about climate change. The main lesson learned from this research is that climate change mitigation strategy is strongly supported by the evidence of corporate annual reports, and it has relation with the following determinant factors: pollution prevention, loss prevention, environmental asset management, GHG emissions, and the strategy chosen by the companies to deal with climate change. Due to the low volume of research related to loss prevention and pollution prevention, we have identified that little attention has been paid to these items. Based on our results, we recommend that climate change mitigation strategies begin to consider these determinant factors in their structure because both have a strong influence in demonstrating how companies are managing these factors for stakeholders. Therefore, companies can benefit from this data to manage their resources for the maintenance of the social contract (legitimacy) through the factors most disclosed, especially companies with lower scores on the scale of ranking presented. Hence, stakeholders can have access to more information on strategies that mitigate climate change and help companies improve the disclosure of the actions that contribute to reduction of GHG emissions.     

Climate anomalies, Indonesian vegetation fires and terrestrial carbon emissions

There was a widespread misconception about the causes of vegetation and land fires in Indonesia. At a certain point, the public perceived that fires and the associated haze pollution were primarily caused by smallholders' agricultural activities. In fact, there was a variety of land-use activities including large-scale land clearing following deforestation for further land development. El Niño events and the associated dry weather were sometimes quoted by officials and the media as the cause of fires. The fire episodes from 1980 to 2000 were analysed in connection with climate anomalies and the implementation of land-use policies related to forest conversions. The analysis employs long-term climatic and sea surface temperature data to reconstruct climate distributions and anomalies including Southern Oscillation Index (SOI), Sea Surface Temperature (SST) and Outgoing Long-wave Radiation (OLR). In this study, the terrestrial carbon emissions from vegetation fires were estimated based on official statistical data on area burnt. The possible incentives for sustainable land management were discussed in the light of fire prevention. The underlying cause neglected in the discussion of Indonesian vegetation fires was forest and land development policy. Legitimated in the early 1980s, it drove massive forest conversions and the use of fires for land clearing. El Niño Southern Oscillation (ENSO) provided dry weather suitable for biomass burning and widespread fire, but it was hardly the cause of fires. The estimate of area burnt in the big fires in 1997 was about 11.6 Mha, resulting in carbon release of 1.45 Gt, equivalent to 0.73 ppmv of CO₂, or almost half the annual global atmospheric CO₂ growth. Based on the current carbon market price such emissions by the 1997 fire episode were worth around US$ 3.6 billion.