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.     

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.     

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.     

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).     

Reproductive Success of Marginal Populations of Dactylorhiza maculata (L.) Soó (Orchidaceae)

Russian Journal of Ecology - Populations at the border of ranges are considered more vulnerable than those in the center. However, some recent reviews contradict this hypothesis. We have studied...     

The Arbuscules Formation Intensity Decreased in Mycorrhizal Alien Plants of Belarusian Polesia

Russian Journal of Ecology - Abstract—We tested a hypothesis about the different abilities of alien and native plants to form arbuscular mycorrhizae. The studies were carried out in the...     

Characteristic features of body composition and metabolism in some interzonal copepods

Protein, lipid, phosphorus, and organic carbon contents, as well as electron transport system (ETS) activity, lactatedehydrogenase activity, and gut evacuation rate, were measured in four interzonal species of Pacific copepods:Calanus australis, C. pacificus, Eucalanus inermis, andE. elongatus f.hyalinus, collected at the upwelling areas off Peru (8°S) and California (27°N), and in the middle of the North Pacific (30°N), from February to April 1987. The two Eucalanidae species —E. inermis andE. elongatus — have distinctive biochemical and elemental body composition and rates of main physiological processes. Relative protein, lipid, phosphorus, and organic carbon contents (µg mg^–1 wet weight) in these species were, respectively, ca. 1/7 to 1/10, 1/5 to 1/20, 1/5 to 1/10, and 1/5 those inCalanus spp. Likewise, oxygen uptake rate per unit of wet weight (based on ETS activity) inE. inermis andE. elongatus was 5 to 10% of that in calanids; a similar difference was found in phosphorus excretion rate. In addition, gut evacuation rates inE. inermis andE. elongatus were ca. one-fifth of those inCalanus spp. Based on these data, we considered the eucalanids as belonging to a distinctive physiological group, figuratively named jelly-body copepods. In contrast with calanids, active lactatedehydrogenase has been found in the bodies ofE. inermis andE. elongatus, apparently allowing them to survive for a long time in layers of extremely low oxygen content (<0.2 ml l^–1). The adaptive value of physiological features in these eucalanids and typical calanids is compared.