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.     

Loss of genetic diversity in Harpacticoida near offshore platforms

Offshore oil and gas production platforms can be a source of chronic stress that could lead to sublethal impacts on resident benthic organisms. In June 1993 and January 1994, genetic diversity of Harpacticoida (Copepoda) living proximal to operating, offshore platforms in the Gulf of Mexico was estimated to test if platforms are associated with strong selective pressures. Because harpacticoids have short generation times and direct benthic development, they are suitable organisms for examining population responses. Genetic diversity was estimated by comparing restriction fragment length polymorphisms generated from mitochondrial DNA amplified by the polymerase chain reaction on individuals of five species (Cletodes sp., Enhydrosoma pericoense, Normanella sp., Robertsonia sp., and Tachidiella sp.). Populations living at Near regions (stations<50 m from a platform) had significantly less haplotype diversity than populations of the same species living at Far regions (stations>3 km from a platform). The levels of haplotype diversity exhibited by the Far populations were similar at three different platforms located hundreds of kilometers apart. The differences in haplotype diversity between Near and Far regions were the result of a higher proportion of dominant haplotypes, and a loss of less common haplotypes. Haplotypic diversity was inversely correlated with a multivariate measurement of levels of sediment contaminants. The pattern of haplotype diversity on the Gulf of Mexico continental shelf seems to consist of a uniform level of haplotype diversity, punctuated by islands of lower diversity around oil and gas platforms. The selective pressures that lead to a loss of genetic diversity may be the result of contaminants, other differences in the physico-chemical environment, or disturbance in general.     

Oxygen and carbon isotopic composition of fish otoliths

Oxygen and carbon isotopic composition of the aragonite of fish otoliths was measured on 175 specimens comprising 24 different species in 1989 and 1990. All specimens but two came from the northern Adriatic Sea or the northern Tyrrhenian Sea (two freshwater specimens were studied for comparison with the marine fish). The data obtained confirm the results of previous research suggesting the existence of equilibrium conditions between the otolith aragonite and ambient water with respect to ·¹⁸O(CO₃ ^2-) values. Examination of one of the species indicated that the CaCO₃ of otoliths probably accumulates continuously over time, seasonal isotopic changes being clearly visible (from a set of radial spot samples) for both oxygen and carbon isotopes. The apparent isotopic equilibrium with ambient water suggests that the ¹⁸O(H₂O) of the endolymph is equal to that of seawater and considerably different from that of fish body water. In the case of ¹³C(CO₃ ^2-), isotopic equilibrium with dissolved carbon species in seawater is never reached, even though the contribution of metabolic CO₂ is variable among different species and even among different individuals of the same species. This rules out the possibility of using ¹³C(CO₃ ^2-) values obtained from fossil otoliths for paleoenvironmental and paleobiological conclusions.     

Calmodulin as a modulator of NaCl transport in the posterior salt-transporting gills of the Chinese crab Eriocheir sinensis

The possible involvement of calmodulin-dependent processes in the control of Na⁺ and Cl^- transport pathways has been investigated on isolated, perfused preparations of salt-transporting posterior gills of the euryhaline Chinese crab Eriocheir sinensis (collected near Emden, Germany in autumn 1990). The anti-calmodulin phenothiazine drugs Chlorpromazine and Trifluoperazine induced depolarization of the transepithelial potential only when added to the serosal bathing saline (socalled in). This effect is best interpreted by assuming a disturbance of the conductive Cl^- pathways located at the baso-lateral side of the epithelium. In agreement with that conclusion is the fact that Trifluoperazine inhibits the Cl^- transepithelial influx. Trifluoperazine also induces inhibition of the Na⁺ influx when added either to the incubation (out) or to the perfusion (in) medium. These results indicate inhibitory effects of the anticalmodulin drug on both the Na⁺/K⁺ pump and leak system located at the serosal side and on the Na⁺/H⁺ exchange located at the apical side of the epithelium.     

Feeding rates and diel vertical migration of copepods near South Georgia: comparison of shelf and oceanic sites

Seventeen Longhurst Hardy Plankton Recorder profiles were taken over a diel cycle in January 1990 to study the feeding of four major copepods over the South Georgia shelf. Ontogenetic changes in vertical migration were followed and feeding cycles determined by gut fluorometry for Calanoides acutus Stage CV, Calanus sinillimus CV and CVI, C. propinquus CV and Rhincalanus gigas CV and CVI. In common with a neighbouring oceanic site visited two weeks later and reported elsewhere, all four species had a diel cycle of feeding and migration. The vertical distributions of C. simillimus (all stages), R. gigas (nauplii) and Euphausia frigida (postlarvae) were similar at both sites, the night being spent within the chlorophyll maximum at 15 to 30 m. However, the biomass dominants, C. acutus and R. gigas, dwelt below the chlorophyll maximum, about 30 m deeper than their oceanic counterparts. Unlike the oceanic site, feeding at the shelf site was not restricted to darkness, but increased 6 to 10 h before nightfall and finished at dawn; the intervening period coincided with sinking and digestion. Daylight feeding may have been induced by the shorter night, lower light levels or greater food requirements at the shelf site, despite planktonic predators being over three times more abundant. Daily ration estimates for R. gigas at both sites were only 2% body carbon per day. These low values contrast with its smaller competirors, whose rations were in the range 5.6 to 27%.     

Measurement of dry deposition of ammonia on a forest

Ammonia concentration gradients above a Douglas fir canopy were measured from 16 August to 31 December 1989 by two automated high-precision thermodenuders at the location Speulderbos in The Netherlands. Concentration gradients were used to calculate the dry deposition flux of ammonia via flux-gradient theory. Meteorological data were obtained from a nearby tower. Ammonia concentrations were highly variable with highest values during the night. Concentration gradients were very small during daytime and quite large at night. Median values of the calculated deposition flux and deposition velocity were 0.1 microg m(-2) s(-1) and 3.2 cm s(-1) respectively (N=1624).     

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).