The possibility of prenatal diagnosis by gene dosage: Confirmation of duplication 10q24→qter from Got-l activity in fetal erythrocytes

The activity of four enzymes, including GOT-1, has been investigated in the erythrocytes of a 10q→24qter trisomic fetus. Analyses have been performed on a feto-maternal blood mixture sampled by fetoscopy and on red cells obtained by cardiac puncture, following therapeutic abortion. The demonstration of a 40 percent increase of GOT-1 activity, as compared to normal fetuses of similar gestational age, suggests that gene dosage studies may be a useful confirmatory technique in prenatal diagnosis of unbalanced chromosomal aberrations. Practical application of a similar diagnostic approach is conditioned by (1) precise characterization of fetal chromosome imbalance; (2) confirmed assignment of the gene locus coding for the gene product under investigation; (3) evidence of a linear proportionality between gene dose and concentration of the gene product in patients with the same chromosome imbalance detected in the fetus; (4) knowledge of the range of normal variation at different weeks of gestation of the enzyme activity to be tested in the fetus; (5) safety of fetal sampling procedure.     

Sources of carbon and dietary habits of new Lessepsian entry<Emphasis Type="Italic"> Brachidontes pharaonis</Emphasis> (Bivalvia,Mytilidae) in the western Mediterranean

The sources of carbon and the dietary habits of Brachidontes pharaonis (Mollusca, Bivalvia), a new Lessepsian entry in the western Mediterranean, living in a cooling vat of a saltworks system in western Sicily (MED), were assessed by estimating throughout a season the relative abundance of a stable carbon isotope (¹³C) in particulate organic matter (POM), sedimentary organic matter (SOM), primary organic matter sources (seagrasses, sand microflora, macroalgae), Brachidontes pharaonis and its biodeposition material. In the saltworks the most enriched primary food source potentially fuelling the saltworks food web was Cymodocea nodosa (seasonal average –7.9±0.6), Laurencia papillosa and Cystoseira sp., which represented the predominant macroalgae (seasonal average –19.0±1.0) and sand microflora ¹³C (–14.7±0.11). POM annual mean ¹³C was –17.4±0.9, and that of SOM was –17.0±2.3. The seasonal mean isotopic value of B. pharaonis was –14.7±0.7; while its faeces was more depleted (–17.7±2.4), while the pseudofaeces (–14.6±3.6) was similar to somatic B. pharaonis in composition. Our study showed that Brachidontes assimilated mostly mixed sedimentary organic carbon re-arranged via a detritus route dominated mainly by macroalgae and sand microflora and that it was able to exploit almost all the predominant carbon sources available in its colonised environment both directly (sand microflora) and indirectly via the POM/SOM detritus route. These carbon sources incorporated most of the environmental variability relative to the isotopic composition of primary producers (about –11 throughout the year).Communicated by R. Cattaneo-Vietti, Genova     

Metabolic integration between symbiotic cyanobacteria and sponges: a possible mechanism

Metabolic relationships between symbiotic cyanobacteria and host sponge have been investigated in the marine species Chondrilla nucula and Petrosia ficiformis (collected in the Ligurian Sea in 1992). DNA, RNA, total protein, cytosolic protein, total sugar, cytosolic sugar, total lipid, nonprotein sulfhydryl groups, glucose-6-phosphate dehydrogenase and 6-phosphogluconate dehydrogenase were assayed in cortex-free sponge tissue, where cyanobacteria are all but absent. For both species, biochemical parameters were determined in specimens living in illuminated habitats and in dark caves, where sponges are virtually aposymbiotic for cyanobacteria. As C. nucula is unable to colonize dark sites, specimens of this species were artificially transferred to a cave and maintained in dark conditions for 6 mo. Results showed that in the absence of light (i.e., in the absence of cyanobacteria) C. nucula undergo metabolic collapse and thiol depletion. In contrast, P. ficiformis activates heterotrophic metabolism and mechanisms which balance the loss of cell reducing power. This suggests that cyanobacteria effectively participate in controlling the redox potential of the host cells by the transfer of reducing equivalents. Only P. ficiformis is capable of counteracting, by means of heterotrophic metabolism, the loss of the contribution from symbionts which is caused by dark conditions. This explains the differences in the ecological requirements of the two species. Because cyanobacterial symbionts release fixed carbon in the form of glycerol and other small organic phosphate (Wilkinson 1979), a model based on the glycerol 3-phosphate shuttle (typically occurring in chloroplasts and mitochondria) is suggested. The mechanism proposed appears to be an ancient biochemical adaptation which arose among ancestral symbiotic systems, and further developed in the relationships between endosymbiotic organelles and cytoplasm.     

Genetic structuring of immature loggerhead sea turtles (Caretta caretta) in the Mediterranean Sea reflects water circulation patterns

The analysis of mitochondrial DNA in loggerhead sea turtles (Caretta caretta) from eight foraging grounds in the Mediterranean and the adjoining Atlantic revealed deep genetic structuring within the western Mediterranean. As a consequence, the foraging grounds off the North-African coast and the Gimnesies Islands are shown to be inhabited mainly by turtles of the Atlantic stocks, whereas the foraging grounds off the European shore of the western Mediterranean are shown to be inhabited mainly by turtles from the eastern Mediterranean rookeries. This structuring is explained by the pattern of sea surface currents and water masses and suggests that immature loggerhead sea turtles entering the western Mediterranean from the Atlantic and the eastern Mediterranean remain linked to particular water masses, with a limited exchange of turtles between water masses. As the north of the western Mediterranean comprises mostly individuals from the highly endangered eastern Mediterranean rookeries, conservation plans should make it a priority to reduce the mortality caused by incidental by-catch in these areas.     

Seasonal changes of locomotor activity patterns in ruin lizards Podarcis sicula

Seasonal differences in the locomotor activity pattern of Podarcis sicula held in constant conditions in the laboratory were found to be associated with systematic differences in both the freerunning period of locomotor rhythms () and the circadian activity time (). In order to establish whether the pineal played a role in the control of seasonal changes in circadian parameters, we examined the effects of pinealectomy in constant conditions on the locomotor behavior of lizards displaying the bimodal activity pattern typical of summer. In most lizards pinealectomy lengthened , shortened and abolished the bimodal activity pattern. Pinealectomy induced a sudden transition from the typical locomotor behavior of summer, characterized by a marked bimodal pattern, short and long , to the typical locomotor behavior of autumn, characterized by a unimodal pattern, a long and short . These results demonstrate that the pineal plays a central role in the seasonal reorganization of the circadian system that occurs in P. sicula.     

Patterns and levels of halogenated volatile compounds in Portuguese surface waters

The present study focused on monitoring the concentration of 14 halogenated volatile organic compounds in surface waters, including sea, estuarine, river water and industrial effluents in order to determine the most ubiquitous compounds and their concentration levels, which were used to establish their geographical and temporal distribution. EPA Method 502, based on purge and trap techniques, was used. In this method volatile organic pollutants are extracted (purged) from the water sample by bubbling inert gas through the aqueous sample. Purged sample components are trapped in a cartridge containing the polymeric sorbent Tenax and, thereafter, the cartridge is heated and backflushed with helium to desorb the trapped sample components directly into a gas chromatograph with electron capture detector (GC-ECD). The linearity range of the method varied from 0.1 to 4 microg L(-1) with a limit of detection at the low microg L(-1) level. The present study consisted of a monthly monitoring of 46 points throughout Portugal, during 14 months. Chloroform was found in 50% of the samples analyzed, its presence being correlated to both agricultural and industrial activities. Other compounds detected were tetrachloroethylene, trichloroethylene, carbon tetrachloride and 1,2,4 trichlorobenzene, which were present in 10-20% of the samples at concentrations up to 18 microg L(-1). 1,1,2,2-Tetrachloroethane and its degradation product 1,1,2-trichloroethane were found in 5% of the samples, the levels of the latter being higher than those of the parent compound in most samples. Sporadic high concentrations of some volatile halogenated organic compounds were attributed to local uses as solvents.     

Routine chromosome analysis on fetal blood microaliquots obtained at fetoscopy

A routine study of the fetal karyotype was performed on samples obtained at 64 fetoscopic procedures. In 13 cases only pure amniotic fluid was available for the cultures, while in the remaining 51 cases the chromosome analysis was carried out on PHA-stimulated lymphocyte microcultures set up with any excess fetal blood above the requirements for globin-chain synthesis. Karyotype could be determined on fetal lymphocytes in 44 cases (86 per cent). All the fetuses were chromosomally normal. This experience shows that cytogenetic analysis using microaliquots of fetal blood is a relatively simple technique which should be introduced into routine prenatal diagnosis by fetoscopy.     

The use of amniotic FSH levels in resolving a discrepancy between fetal chromosomal and phenotypic sex

We report a case in which a discrepancy emerged between the prenatal diagnosis of female chromosomal sex and male sex at ultrasound examination. The FSH dosage performed on an amniotic fluid sample previously stored confirmed the male phenotype of the fetus. The effectiveness of the AF-FSH level dosage in prenatal diagnosis was taken into consideration.     

Eco-design in innovation driven companies: perception, predictions and the main drivers of integration. The Spanish example

This study attempts to contribute to the scarce knowledge on how eco-design, and to broad extent sustainability, is connected to innovation driven companies. In particular, this cross sectional research verifies i) perception and knowledge of eco-design of the professionals from innovation driven companies in Spain, ii) specific eco-design strategies towards sustainability that innovation driven companies are integrating in their strategic plans and their application in the supply chain and iii) the companies’ future predictions on innovation and eco-design linkage. The methodology of this paper is based on a survey, developed defining measurable proxies for both eco-design and innovation approaches and conducted on 10,000 multidisciplinary professionals from Spanish innovation driven companies. The study shows that sustainability is a cardinal driver for innovation and that responses have specificities regarding company size, activity or respondent position. Innovation and eco-design strategies for the future aim to use materials with a lower environmental impact and to develop new concepts.