Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.     

Perioperative fetal hemodynamic changes in twin-twin transfusion syndrome and neurodevelopmental outcome at two years of age

Objective

To investigate whether perioperative fetal hemodynamic changes in twin-to-twin transfusion syndrome (TTTS) are associated with neurodevelopmental impairment (NDI) at two years.

Methods

Doppler parameters of three sonograms (day before, first day after and 1 week after laser surgery for TTTS) were assessed for correlation with neurodevelopmental outcome at two years (2008-2016). NDI was defined as: cerebral palsy, deafness, blindness, and/or a Bayley-III cognitive/motor developmental test-score > 2SD below the mean.

Results

Long-term outcome was assessed in 492 TTTS survivors. NDI was present in 5% (24/492). After adjustment for severe cerebral injury (present in 4%), associated with NDI were: middle cerebral artery peak systolic velocity (MCA-PSV) >1.5 multiples of the median (MoM) 1 day after surgery (odds ratio [OR] 4.96; 95% confidence interval [CI]: 1.17-21.05, P = .03), a change from normal umbilical artery pulsatility index (UA-PI) presurgery to UA-PI >p95 postsurgery (OR 4.19; 95% CI: 1.04-16.87, P = .04), a change from normal to MCA-PSV >1.5MoM (OR 4.75; 95% CI: 1.43-15.77, P = .01).

Conclusion

Perioperative fetal hemodynamic changes in TTTS pregnancies treated with laser are associated with poor neurodevelopmental outcome. Prospective research on the cerebrovascular response to altered hemodynamic conditions is necessary to further understand the cerebral autoregulatory capacity of the fetus in relation to neurodevelopmental outcome.     

Forest planning across Europe: the spatial scale,tools, andinter-sectoral integration in land-use planning

New approaches to forest planning are needed to support the transition of European forests to sustainable management. The aim of this study is to review forest planning systems already in place throughout Europe by exploring a set of case-study countries reflecting the main silvicultural schools of Western Europe, including Belgium, Finland, France, Italy, Portugal, and Slovenia.

A literature review and case-study data were used to assess the scale factors (vertical logic) as well as the relationships between forest planning and other environmental/land-use planning sectors (horizontal logic). The influence of EU policy on the development of forest planning is also discussed. As assessed using the vertical logic, the multi-scale and multi-topic planning approaches adopted in the countries studied here are highly heterogeneous. The horizontal logic shows that despite the importance of an inter-sectoral and harmonic relational framework between forest planning and the planning efforts of other sectors such as landscape and urban planning, the various plans are barely consistent with each other across the European countries studied here. Although interest is growing in the multi-functionality of forests, their sustainable management calls for the development of better integrated planning approaches across Europe.     

Diverse migration strategies in hoopoes (<Emphasis Type="Italic">Upupa epops</Emphasis>) lead to weak spatial but strong temporal connectivity

The annual cycle of migrating birds is shaped by their seasonal movements between breeding and non-breeding sites. Studying how migratory populations are linked throughout the annual cycle—migratory connectivity, is crucial to understanding the population dynamics of migrating bird species. This requires the consideration not only of spatial scales as has been the main focus to date but also of temporal scales: only when both aspects are taken into account, the degree of migratory connectivity can be properly defined. We investigated the migration behaviour of hoopoes (Upupa epops) from four breeding populations across Europe and characterised migration routes to and from the breeding grounds, location of non-breeding sites and the timing of key migration events. Migration behaviour was found to vary both within and amongst populations, and even though the spatial migratory connectivity amongst the populations was weak, temporal connectivity was strong with differences in timing amongst populations, but consistent timing within populations. The combination of diverse migration routes within populations and co-occurrence on the non-breeding grounds between populations might promote exchange between breeding populations. As a result, it might make hoopoes and other migrating bird species with similar strategies more resilient to future habitat or climatic changes and stabilise population trends.     

The potential of behavioural change for climate change mitigation: a case study for the European Union

Mainstream literature on climate change concentrates overwhelmingly on technological solutions for this global long-term problem, while a change towards climate-friendly behaviour could play a role in emission reduction and has received little attention. This paper focuses on the potential climate mitigation by behavioural change in the European Union (EU) covering many behavioural options in food, mobility and housing demand which do not require any personal up-front investment. We use the Global Change Assessment Model (GCAM), capturing both their direct and indirect implications in terms of greenhouse gas emissions. Our results indicate that modest to rigorous behavioural change could reduce per capita footprint emissions by 6 to 16%, out of which one fourth will take place outside the EU, predominantly by reducing land use change. The domestic emission savings would contribute to reduce the costs of achieving the internationally agreed climate goal of the EU by 13.5 to 30%. Moreover, many of these options would also yield co-benefits such as monetary savings, positive health impacts or animal wellbeing. These results imply the need for policymakers to focus on climate education and awareness programs more seriously and strategically, making use of the multiple co-benefits related with adopting pro-environmental behaviour. Apart from that, the relevance of behavioural change in climate change mitigation implies that policy-informing models on climate change should include behavioural change as a complement or partial alternative to technological change.     

Window of opportunity of <Emphasis Type="Italic">Liparis loeselii</Emphasis> populations during vegetation succession on the Wadden Sea islands

The present study aims at assessing the life span of populations of the orchid L. loeselii during successional in dune slacks on the Wadden Sea islands. An inventory of Liparis loeselii populations was carried out on 6 islands, while the population structure was assessed in more detail on the island of Texel. The occurrence of the orchid was related to soil factors and hydrological conditions. Groundwater levels were measured in a dune area with natural dune slack formation. The groundwater composition was analyses and the freshwater lenses were modelled. Various scenarios were investigated, including sea level rise and sand nourishment. The window of opportunity for L. loeselii to colonize a new slack is relatively narrow. Under favorable management, the population can survive c. 20 years. Soil pH was positively correlated with the occurrence of L. loeselii populations, while a high organic matter content was negatively correlated. Sites with large populations of L. loeselii, were situated in young dune slacks, that functioned as flow-through lakes and has top soilsinfluenced by anoxic calcareous groundwater. Modelling showed that the freshwater lens would decrease due to sea level rise, while artificial sand nourishment could counteract this effect. The populations of the Hors area on Texel, the Netherlands, can survive for several decades due to continuous formation of new slacks. Discharge of calcareous groundwater is essential to keep the pH on a high level. The hydrological systems that supply dune slack with groundwater are relatively small and are vulnerable for changes in sea level rise.     

Assessment of anthropogenic influences on surface water quality in urban estuary, northern New Jersey: multivariate approach

Concentrations of selected heavy metals (Cd, Cr, Cu, Pb, Ni, Fe, and Zn), nutrients (NO ₃ ^? and NH₃), fecal coliform colonies, and other multiple physical–chemical parameters were measured seasonally from 12 locations in an urban New Jersey estuary between 1994 and 2008. Stepwise regression, principal component analysis, and cluster analysis were used to group water quality results and sampling locations, as well as to assess these data’s relationship to sewage treatment effluents and the distance to the mouth of the river. The BOD₅, NH₃, NO ₃ ^? and fecal coliform counts clustered as one group and positively correlated to the distances from treated effluent and the measures of magnitude at the discharge points. Dissolved solids and most metal species scored high along a single principal component axes and were significantly correlated with the proximity to the industrialized area. From these data, one can conclude that the effluent discharge has been a main source of anthropogenic input to the Hackensack River over the past 15 years. Therefore, the greatest improvement to water quality would come from eliminating the few remaining combined sewer overflows and improving the removal of nutrients from treated effluents before they are discharged into the creeks and river.