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.     

Magnetic resonance image findings of placental lake: report of two cases

Two cases with a large cystic mass within the placenta are reported. By ultrasonography, it was found that both women had a subchorionic hypoechoic lesion (11.0 × 4.8 × 4.0 cm and 6.6 × 3.7 × 2.2 cm, respectively) at 24 and 35 weeks of gestation, respectively. In both cases, turbulent blood flow generated by a pulsatile jet flow (pulse rate; 40 to 60 beats per minute) into the cystic lesion seen on real-time imaging and lesions being low intensity on T1-weighted and isointensity on T2-weighted magnetic resonance image suggested that they contained fresh maternal blood. In both cases, the sonolucency of the lesions did not change until cesarean deliveries of females, both of whom were small-for-gestational-age infants (1940 g at 37 weeks and 2195 g at 37 weeks, respectively). Biochemical analysis of the fluid in the cystic lesion sampled during the cesarean section in the latter case confirmed that the fluid had originated from the maternal blood. These lesions histologically corresponded to large avillous areas surrounded by normal villi. Thus, a huge placental lake was diagnosed in both cases. Copyright © 2005 John Wiley & Sons, Ltd.     

The importance of free amino acids to the energy metabolism of eggs and larvae of turbot (Scophthalmus maximus)

A study was undertaken to establish the role of free amino acids (FAA) in aerobic energy dissipation in embryos of turbot (Scophthalmus maximus) which contain an oil globule in the egg. Laboratory-reared developing eggs and larvae (15°C, 34 salinity) were measured for oxygen uptake, ammonia excretion, contents of FAA, protein, and ammonium, and volumes of yolksac and oil globule. Newly spawned eggs from different batches contained 55 to 90 nmol egg^–1 of FAA. Resorption of FAA occurred in parallel with the consumption of yolk. Resorption of the oil globule, however, occurred predominantly after hatching and mainly after yolk resorption. The combined data suggest that approximately 70% of the FAA are utilized as an energy substrate, while the rest are polymerized into body proteins. FAA become a significant energy substrate in the early egg stage and account for 100% of the aerobic energy dissipation 2 d after Fertilization then decrease to ca. 60% at the time of hatching. Lipids derived from the oil globule seem to be the main fuel after hatching and account for ca. 90% of the energy dissipation at the onset of first-feeding. Thus, the energetics of fish embryos which contain an oil globule seems to be different from those that depend exclusively on the nutritional reserves of the yolk.     

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.     

The concept of intrinsic value and transgenic animals

The creation of transgenic animals by means of modern techniques of genetic manipulation is evaluated in the light of different interpretations of the concept of intrinsic value. The zoocentric interpretation, emphasizing the suffering of individual, sentient animals, is described as an extension of the anthropocentric interpretation. In a biocentric or ecocentric approach the concept of intrinsic value first of all denotes independence of humans and a non-instrumental relation to animals. In the zoocentric approach of Bernard Rollin, genetic engineering is seen as a morally neutral tool, as long as the animal does not suffer as a result of it. Robert Colwell who defends an ecocentric ethic, makes a sharp distinction between wild animals and domesticated animals. Genetic manipulation of wild species is a serious moral issue, in contrast to genetic manipulation of domesticated species which is no problem at all for Colwell. Both authors do not take the species-specific nature (or telos) of domesticated animals seriously. When domestication is seen as a process between the two poles of the wild animal and the human construct (which can be patented), the technique of genetic manipulation can only be seen as a further encroachment upon the intrinsic value of animals. At the level of molecular biology, the concept of an animal's telos loses its meaning.     

Selective predation on mature male Byblis japonicus (amphipoda: Gammaridea) by the barface cardinalfish,Apogon semilineatus

Ontogenetic change of habitat depths of Nautilus pompilius in the Philippines (Tañon Strait) and Fiji is considered by comparing ¹⁸O/¹⁶O ratios in septa and cameral fluid of live-caught specimens and ambient sea-water. ¹⁸O values of cameral liquid become heavier with decreasing volume within a chamber, which may be due to isotopic fractionation during discharge across the siphuncular wall. All of the seven Philippine and Fiji specimens analyzed show a distinct change in ¹⁸O from light values in the first seven septa to heavier values in the succeeding septa. Two different isotopic temperature scales are obtained for the Fiji and Philippine populations, suggesting a differential vital effect of metabolism between them. Sightly light ¹⁸O values in Septa 1 to 7 and hatching at relatively high temperatures in aquaria both suggest that N. pompilius hatch at the shallowest depths within their inhabitable vertical range. Depths of postembryonic animals in the Philippines and Fiji waters estimated from the isotopic temperature-depth diagrams range from 120 to 160 m and from 440 to 520 m, respectively, both of which correlate well with capture records. More than several tens of small-scale ¹⁸O cycles are detected in the sequence of nacreous layers within the single septum of a submature Philippine specimen. This can be interpreted as reflecting daily vertical migration.     

Impact of atrazine-bearing agricultural tile drainage discharge on planktonic drift of a natural stream

Preliminary results are reported from a co-operative study between Agriculture Canada and Environment Canada on environmental impacts of atrazine measured in a field stream receiving agricultural drainage. Systematically, tile drained plots of known crop rotation, area, flow and pesticides use were used in the study. A maximum tile drainage concentration of 13.9 microg liter(-1) atrazine was measured while the maximum measured stream concentration was 1.89 microg liter(-1). Phytoplankton and zooplankton samples were collected on a bi-monthly basis during the growing season. The study indicated possible negative impacts of low concentrations of atrazine on planktonic drift populations, when natural stream flow was reduced, resulting in a lower dilution capacity. A 20 m section of the stream was affected by the tile drainage waters as measured by the resident biological community. Both atrazine and ambient environmental conditions were felt to be contributing to the measured results. No negative impacts on planktonic drift populations were evident beyond 50 m downstream of the tile drainage and stream confluence.