Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery.     

Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization

A case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX, + mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)—isochromosome 18p. Follow-up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18-specific alpha satellite DNA, Yac clones, and a pan-telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost.     

Apparent non-mosaic trisomy 16 in chorionic villi: Diagnostic dilemma or clinically significant finding?

A case is presented in which apparent non-mosaic trisomy 16 was found in chorionic villi (direct and culture) obtained from a patient undergoing first-trimester prenatal diagnosis. The fetal karyotype subsequently was determined to be 46,XX by follow-up amniocentesis. Serial ultrasonographic examinations revealed placental sonolucencies and intrauterine growth retardation. At 37 weeks, a small-for-gestational-age female was delivered by Caesarean section for fetal distress. Postnatal cytogenetic studies revealed a normal female karyotype in cord blood and mosaic trisomy 16 in plaental tissues. These findings suggest that in cases where aneuploidy is confined to placental tissues, it may have biological significance, as evidenced by the apparent placental dysfunction and poor fetal growth in this case.     

Biomarkers of carcinogenic contaminants in baltic flounder (Platichthys flesus)

In order to study effects of environmental contamination, a suite of biomarkers were measured over the period 1996 to 1999 in livers of flounder (Platichthys flesus) from two urban embayments and one non-urban reference site of the Gulf of Finland in the vicinity of Tallinn, Estonia. Total cytochrorne P450 (CYP) level, aryl hydrocarbon hydroxylase (AHH), 5-amino-levulinic acid synthetase (ALA-S), and heme synthetase (HEM-S) activities were quantified by means of spectrophotometry. These data were compared to results obtained in 1994 for the same biomarkers at one of the urban embayments and the non-urban site, as measured by the same protocols. For the flounder collected from the non-urban site, changes occurred in AHH activity and the total CYP level, which were significantly lower in 1996 and 1999 compared with 1994 (p< 0.05). Activity of ALA-S de-creased slightly over this same period. The activity of HEM-S increased between 1996 and 1999. In the urban site first investigated in 1994, the activities of AHH and ALA-S, as well as the total level of CYP in flounder liver were significantly higher compared with 1999 (p< 0.05). HEM-S activities did not show any significant changes over this time period. AHH activities of flounder collected in another urban site decreased slightly between 1996 and 1999, in contrast to data on the total CYP level which diminished drastically over these years (p< 0.05). Activities of HEM-S increased significantly (p< 0.05) during the period investigated, while activities of ALA-S remained unchanged. These findings suggest that contamination of the marine environments by PAHs has gone down everywhere in the Tallinn area during the last 3 to 5 years. However, the results indicate that the area is still contaminated, as indicated by elevated heme synthesis enzymes and the total CYP content, and that monitoring of contaminants and their effects should be continued in this region.     

Big projects,big problems

Our environmental concerns prompt launching large monitoring programs. Examining the history and accomplishments of similar endeavors is the best way to avoid errors. One lesson taught by the oldest and largest survey of national renewable resources in the United States, the Forest Inventory and Analysis Program, is that the program itself is not capable of learning from its errors. Among other problems that beset big programs are unrealistic promises. It is not possible to inventory every animal and plant species in the United States and their habitats as the newly created National Biological Survey vows to do. Even if it were possible, this would hardly help to attain the ultimate goal of the Survey, survival of all species. In his request to fund the Survey, Secretary of the Interior, Bruce Babbitt, compared the conflict between economic development and environmental integrity with train wrecks. This metaphor is as brilliant as it is deceitful. Its brilliance, attested by the success with the press and legislature, is in a vivid and blithe image suggesting that, given sufficient information, the conflict could be averted. After all, railroad accidents are rare and avoidable exceptions. This hopeful situation cannot be honestly compared with the plight of our environment. The crucial piece of information — that there is no spare track for economic development — is readily available. Our population and economic growth take place in the same space that has already been fully occupied by other species. To be trustworthy, monitoring programs should face the reality that development necessitates environmental degradation.     

Theoretical aspects of fluoride air contaminant formation in aluminium smelter potrooms

The amount of particulate fluorides evolved from aluminium electrolysis cells is not entirely accounted for by the fluorides entrained in the anode gas. The largest additional source of particulate fluoride formation is by direct evaporation of fluorides into the anode gas stream and subsequent condensation on the drops of electrolyte generated in the process of bubble burst. A theoretical model was used for the calculation of the main physical parameters responsible for the formation of particle nuclei when the hot anode-gas is mixed with ambient air. The results of these calculations are in agreement with experimental observations reported in the literature. In particular, the size distribution, composition and morphology of the nano-particles support the theory of a vapour condensation mechanism under conditions of extreme supersaturation, but further studies are necessary.     

Understanding Human–Landscape Interactions in the “Anthropocene”

This article summarizes the primary outcomes of an interdisciplinary workshop in 2010, sponsored by the U.S. National Science Foundation, focused on developing key questions and integrative themes for advancing the science of human–landscape systems. The workshop was a response to a grand challenge identified recently by the U.S. National Research Council (2010a)—“How will Earth’s surface evolve in the “Anthropocene?”—suggesting that new theories and methodological approaches are needed to tackle increasingly complex human–landscape interactions in the new era. A new science of human–landscape systems recognizes the interdependence of hydro-geomorphological, ecological, and human processes and functions. Advances within a range of disciplines spanning the physical, biological, and social sciences are therefore needed to contribute toward interdisciplinary research that lies at the heart of the science. Four integrative research themes were identified—thresholds/tipping points, time scales and time lags, spatial scales and boundaries, and feedback loops—serving as potential focal points around which theory can be built for human–landscape systems. Implementing the integrative themes requires that the research communities: (1) establish common metrics to describe and quantify human, biological, and geomorphological systems; (2) develop new ways to integrate diverse data and methods; and (3) focus on synthesis, generalization, and meta-analyses, as individual case studies continue to accumulate. Challenges to meeting these needs center on effective communication and collaboration across diverse disciplines spanning the natural and social scientific divide. Creating venues and mechanisms for sustained focused interdisciplinary collaborations, such as synthesis centers, becomes extraordinarily important for advancing the science.     

Heavy metal concentrations in particle size fractions from street dust of Murcia (Spain) as the basis for risk assessment

Street dust has been sampled from six different types of land use of the city of Murcia (Spain). The samples were fractionated into eleven particle size fractions (<2, 2-10, 10-20, 20-50, 50-75, 75-106, 106-150, 150-180, 180-425, 425-850 μm and 850-2000 μm) and analyzed for Pb, Cu, Zn and Cd. The concentrations of these four potentially toxic metals were assessed, as well as the effect of particle size on their distribution. A severe enrichment of all metals was observed for all land-uses (industrial, suburban, urban and highways), with the concentration of all metals affected by the type of land-use. Coarse and fine particles in all cases showed concentrations of metals higher than those found in undisturbed areas. However, the results indicated a preferential partitioning of metals in fine particle size fractions in all cases, following a logarithmic distribution. The accumulation in the fine fractions was higher when the metals had an anthropogenic origin. The strong overrepresentation of metals in particles <10 μm indicates that if the finest fractions are removed by a vacuum-assisted dry sweeper or a regenerative-air sweeper the risk of metal dispersion and its consequent risk for humans will be highly reduced. Therefore, we recommend that risk assessment programs include monitoring of metal concentrations in dust where each land-use is separately evaluated. The finest particle fractions should be examined explicitly in order to apply the most efficient measures for reducing the risk of inhalation and ingestion of dust for humans and risk for the environment.