Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 John Wiley & Sons, Ltd.     

Deep chlorophyll maximum distribution in the central Tyrrhenian Sea described by a towed undulating vehicle

The towed undulating vehicle (TUV), named SARAGO, was used for two fine-scale surveys between the Italian and the Sardinian coasts during the Astraea 2 cruise (6-7 and 26-27 September 1995), studying the deep chlorophyll maximum distribution. SARAGO sections identify a sub-surface doming with higher chlorophyll a and primary production concentrations in the upwelling area of a cyclonic gyre region, detected by sea-surface temperature images. In the first section, the cyclone presents a double doming, in density and salinity, with shallower and concentrated patches of chlorophyll a for about 2 miles. Twenty days later, the second section shows that the gyre changes shape and extension, showing a single doming with higher primary production and chlorophyll a concentrations, distributed over a large area of about 40 nautical miles. SARAGO allows analysis of this high-variability phenomenon (cyclonic gyre) and allows concentrated patches (2 nm) to be identified, thus proving the importance of TUVs in the study of mesoscale processes.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

Planktonic bioluminescence in the pack ice and the marginal ice zone of the Beaufort Sea

An icebreaker cruise into the Beaufort Sea in the fall of 1986 provided a unique opportunity for studying planktonic bioluminescence in ice fields and in the marginal ice zone. Bathyphotometer casts (bioluminescence intensity, seawater temperature, beam attenuation coefficient, and salinity) and biological collections were made to a depth of 100 m. A light budget, which describes the planktonic species responsible for the measured bioluminescence, and a dinoflagellate species budget were constructed from the mean light output from luminescent plankton and plankton counts. The vertical distribution of bioluminescence among the ice stations was similar. The maximum intensities were 2 to 8×10⁶ photons s^-1 cm^-3 in the upper 50 m of the sea-ice interface. The marginal ice zone station (MIZ) exhibited a maximum intensity of 2 to 3×10⁸ photons s^-1 cm^-3 between 5 and 30 m depth. At Ice Station 2, Metridia longa and their nauplii contributed approximately 80% of stimulable bioluminescence in the upper 10 m but, overall, Protoperidinium spp. dinoflagellates contributed most of the light to a depth of 100 m. In the MIZ, Protoperidinium spp. dinoflagellates contributed 90% of the light within the upper 10 m, decreasing to 43% of the contributed light at a depth of 40 m. Below 40 m, dinoflagellate bioluminescence decreased to a few percent of the total to a depth of 90 m. Metridia spp. copepods contributed more than 50% of the light at depths from 40 to 90 m. Ostracods, larvaceans, and euphausiid furcilia contributed <1% of all bioluminescence at all depths sampled. Correlation analyses between measured bioluminescence (photons s^-1 cm^-3), the number of bioluminescent dinoflagellates and the light budget for the MIZ indicated highly significant associations: r=0.919, p=0.001, and r=0.912, p<0.001, respectively (Student's two-tailed t-tests). Bioluminescence was negatively correlated with seawater salinity at all stations (p=0.001). Maximum bioluminescence was measured in the less saline surface waters at all stations.     

Relationships between porewater nutrients and seagrasses in a subtropical carbonate environment

The feeding, diet and egg production of the copepod Acartia tonsa were dermined during ten experiments in Los Angeles Harbor, California, between November 1986 and October 1987. Copepods were incubated in situ, in quasi-natural food environments. Water temperatures ranged from 14.6 to 21.5°C. Particulate organic carbon and nitrogen (POC and PON) were high (534 to 3710 g Cl^-1, 51 to 459 Nl^-1) but dominated by small (<8 m diam) particles. Plankton (phytoplankton and microzooplankton) C-biomass composed about 10% of the total POC and was usually dominated by particles >8 m. Plankton biomass was always low. Daily ingestion rates ranged from 3 to 96% of body C; egg production ranged from 4 to 35% of body carbon. Mean ingestion and egg production rates during spring-summer were 1.9 and 1.5 times higher than average for the entire study, respectively. The average gross efficiency of egg production for the study was 80%; the spring-summer mean was 41%. Bivariate and multiple-regression analyses revealed that the ingestion rate was dependent upon both temperature and food availability, but that, below 21°C, egg production depended more upon temperature than upon food concentration. To detect dietary preferences, the composition of diet was compared with that of the food supply. Selective feeding was infrequent, but the diet was often dominated by dinoflagellates and ciliates. It would appear that within metabolic limits governed by temperature, the feeding response of A. tonsa is dependent upon food concentration, while egg production depends more on qualitative attributes of the food supply.     

Vertical profiles of bacterial abundance,productivity and growth rates in coastal sediments of the central Great Barrier Reef lagoon

Vertical patterns of bacterial densities, productivity and specific growth rates in coastal muds, quartz sands and muddy sands of the central Great Barrier Reef lagoon were examined in summer (February) and autumn (May) 1988. Variations in these parameters with station location, sediment depth and season were complex, exhibiting significant main and interaction effects in most instances. Some trends were apparent despite the large and complex variations. Bacterial densities did not vary seasonally, ranging from 2.9 to 38.1×10⁹ cells g^-1 dry wt, averaged over sediment depth (0 to 20 cm) and seasons. Trend analysis revealed that densities decreased with increasing sediment depth. Bacterial production (tritiated thymidine incorporation into DNA) was high, ranging from 0.4 to 5.7 gCm^-2 d^-1 (integrated over 10 cm depth), as were specific growth rates (grand mean, =0.25 d^-1; range=0.004 to 1.3 d^-1). Both were generally higher in summer than in autumn. Vertical profiles of productivity and specific growth rates revealed actively growing bacterial assemblages down to 20 cm depth. Factors which may account for these very abundant and productive communities are: (1) subsurface accumulations of detritus exported from adjacent mangrove forests, and (2) physical disturbance from tidal scouring and severe climate (e.g. cyclones, wet-season floods). Disturbance events occur frequently enough to inhibit the development of highly sulphidic conditions, but stimulate production of bacterial types (aerobes, fermenters) capable of incorporating labelled thymidine into their DNA.     

Lipid content of some Caribbean corals in relation to depth and light

Three procedures for the extraction of coral lipids were compared and a rapid and effective method for future use is suggested. This method was used to measure the lipid content of the branching coral Porites porites (Pallas) and the massive corals Montastrea annularis (Ellis and Solander) and Siderastrea siderea (Ellis and Solander) during July and August 1991. P. porites and M. annularis were sampled on two fringing reefs, each characterised by different water quality affecting light transmission, and at depths of down to 30 m on a barrier reef on the west coast of the island. m. annularis contained, on average, 29% of dry weight as lipid, and there were no significant differences in lipid levels between corals sampled on either fringing reef at 3 and 6 m, or between fringing reefs and the barrier reef at 13, 20 or 30 m depth. Five samples were also taken from a single massive colony of S. siderea at 3 m on a fringing reef and at 13, 20 and 30 m depth on the barrier reef. Values for lipid ranged from 26 to 35% of dry tissue weight. P. porites from 3 and 6 m depth on both fringing reefs contained the same amount of lipid (11% of dry tissue weight). However, at 13 m depth on the barrier reef this coral contained significantly less lipid (8.5% of dry tissue weight). This difference may be attributable to a higher nutritional intake by P. porites on the fringing reefs.     

Persistent “upwelling shadows” and their influence on zooplankton distributions

Physical (temperature and salinity) and biological (zooplankton) properties were sampled over a 15 mo period in 1988 and 1989 to monitor nearshore environmental variability in northern Monterey Bay, California, USA. During the upwelling seasons of 1988 and 1989, there were two distinct bodies of water along the sampling transect. The offshore water body was characterized by recently upwelled water (typically <12°C) while the nearshore body was significantly warmer (approaching 16°C). A sharp thermal gradient (=front) separated the two water bodies. This front persisted 6.5 km from shore throughout the upwelling season of 1988 and was present again in 1989. Zooplankton-assemblage analysis confirmed the presence of two distinct regions in northern Monterey Bay. We refer to this phenomenon as an upwelling shadow, which is the result of the advection of recently upwelled water bearing nutrients and larvae past coastal recesses which are equatorward of upwelling centers.     

The evolution of sustainability

Six separate but related strains of thought have emerged prominently since 1950 in discussions of such phenomena as the interrelationships among rates of population growth, resource use, and pressure on the environment. They are the ecological/carrying capacity root, the resources/environment root, the biosphere root, the critique of technology root, the no growth/slow growth root, and the ecodevelopment root.Each of these strains of thought was fully developed before the word sustainable itself was used. Many of the roots are based on fundamentally opposing assessments of the future of mankind. Many of the roots, such as the ecology/carrying capacity root, are based on physical concepts, and they exclude normative values. Others, such as the ecodevelopment root, include such values as equity, broad participation in governance, and decentralized government.When the word sustainability was first used in 1972 in the context of man's future, in a British book,Blueprint for Survival, normative concepts were prominent. This continued to be the case when the word was first used in 1974 in the United States to justify a no growth economy.Sustainability was first used in a United Nations document in 1978. Normative concepts, encapsulated in the term ecodevelopment, were prominent in the United Nations publications.After about 1978, the term sustainability began to be used not only in technological articles and reports but also in policy documents culminating in the use of the term in the report of the summit meeting of the Group of Seven in 1989.The roots of the term sustainability are so deeply embedded in fundamentally different concepts, each of which has valid claims to validity, that a search for a single definition seems futile. The existence of multiple meaning is tolerable if each analyst describes clearly what he means by sustainability.     

Ozone in the urban southeastern United States

Ozone measurements (daily maximum values) from the Aerometric Information Retrieval System database are analyzed for selected sites, during 1980 to 1988, in southeastern USA. Frequency distributions, for most sites during most years, show a typical bell-shaped curve with the higher frequency around the yearly daily maximum ozone mean of about 100 to about 110 microg m(-3) (50-55 ppbv). Abnormal years in ozone concentration may skew the distribution as the mean shifts. A correlation of daily maximum ozone concentrations above 140 microg m(-3) (70 ppbv) between sites shows a division between the sites in the northern protion of the region and those in the southern portion of the region. Variations in ozone levels are well correlated over distances of several hundred kilometers, suggesting that high values are associated with synoptic scale episodes. An ozone exposure analysis also shows higher ozone exposures (250-300 ppm days) in the northerly sites as compared to the southerly sites (150-170 ppm days).