A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.     

Chemical looping with oxygen uncoupling: an advanced biomass combustion technology to avoid CO2 emissions

Mitigation and Adaptation Strategies for Global Change - Bioenergy with carbon dioxide (CO2) capture and storage (BECCS) technologies represent an interesting option to reach negative carbon...     

Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

Headwater streams: neglected ecosystems in the EU Water Framework Directive. Implications for nitrogen pollution control

The European Union Water Framework Directive (WFD) aims to achieve the “good status” of waters by 2015, through monitoring and control of human impacts on “bodies of surface water” (BSWs), discrete elements for quality diagnosis and management. Headwater streams, however, are frequently neglected as they are not usually recognised as BSW. This poses limitations for the management of river catchments, because anthropogenic impacts on headwaters can constrain the quality of downstream rivers. To illustrate this problem, we compared nitrate levels and land use pressures in a small agricultural catchment with those recorded in the catchment in which it is embedded (Ega), and in the Ebro River Basin (NE Spain) comprising both. Agriculture greatly influenced water nitrate concentration, regardless of the size of the catchments: R² = 0.91 for headwater catchments (0.1–7.3 km²), and R² = 0.82 for Ebro tributary catchments (223–3113 km²). Moreover, nitrate concentration in the outlet of a non-BSW small river catchment was similar to that of the greater downstream BSW rivers. These results are of interest since, despite representing 76% of the length of the Ega catchment hydrographical network, only 3.1% of the length of the headwater streams has been identified as BSWs. Human activities affecting headwater streams should therefore be considered if the 2015 objective of the WFD is to be achieved.     

Accumulation of mesozooplankton in a wake area as a causative mechanism of the “island-mass effect”

Mesozooplankton biomass (as displacement volume and protein content) and electron-transport system (ETS) activity have been studied in the coastal waters around the Canary Islands. Increases in biomass and ETS activity, on a unit volume basis, were observed in the wakes of the islands. The biomass values obtained in the leeward area for Gran Canaria Island were up to ten times higher than those observed for typical oceanic waters around this archipelago. Sampling was performed in May 1986 at the end of the characteristic vertical mixing period in these waters. Relatively strong winds were recorded prior to sampling. Specific ETS activity was higher at the windward stations on the island shelf. This correlates with the observation in a recent study of increased primary production on the shelf area, where turbulence produced by the northerly trade winds has a marked effect. The persistence of this turbulence during a prolonged wind-pulse results in an accumulation of organisms in the wake of the islands due to current dynamics. This process is proposed as being an important causative mechanism of the island-mass effect. Different biomass values were recorded between circular and oblong islands. The latter are oriented towards the current and the northerly trade winds, and display significantly lower biomass values than the former.