The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of CADASIL, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option. Copyright © 2005 John Wiley & Sons, Ltd.     

A side-by-side comparison of two systems of sequencing coupled reactors for anaerobic digestion of the organic fraction of municipal solid waste.

The objective of this work was to compare the performance of two laboratory-scale, mesophilic systems aiming at the anaerobic digestion of the organic fraction of municipal solid wastes (OFMSW). The first system consisted of two coupled reactors packed with OFMSW (PBR1.1-PBR1.2) and the second system consisted of an upflow anaerobic sludge bed reactor (UASB) coupled to a packed reactor (UASB2.1-PBR2.2). For the start-up phase, both reactors PBR 1.1 and the UASB 2.1 (also called leading reactors) were inoculated with a mixture of non-anaerobic inocula and worked with leachate and effluent full recirculation, respectively. Once a full methanogenic regime was achieved in the leading reactors, their effluents were fed to the fresh-packed reactors PBR1.2 and PBR2.2, respectively. The leading PBR 1.1 reached its full methanogenic regime after 118 days (Tm, time to achieve methanogenesis) whereas the other leading UASB 2.1 reactor reached its full methanogenesis regime after only 34 days. After coupling the leading reactors to the corresponding packed reactors, it was found that both coupled anaerobic systems showed similar performances regarding the degradation of the OFMSW. Removal efficiencies of volatile solids and cellulose and the methane pseudo-yield were 85.95%, 80.88% and 0.109 NL CH4 g(-1) VS(fed) in the PBR-PBR system; and 88.75%, 82.61% and 0.115 NL CH4 g(-1) VS(fed0 in the UASB-PBR system [NL, normalized litre (273 degrees K, 1 ata basis)]. Yet, the second system UASB-PBR system showed a faster overall start-up.     

Heavy-metal adsorption by non-living biomass

The adsorption of some heavy metals onto the walls of harvested, washed, and dried non-living biomass cells of different Pseudomonas strains was studied at optimum experimental conditions using a simplified single component system. The Langmuir adsorption model was found to be a suitable approach to describe the system via multi-step processes. Isotherms measured at 30.0°C and pH 5.5 with [M]_total = 10-100 mM for tight, reversible Cr⁶⁺(aq), Ni²⁺(aq), Cu²⁺(aq) and Cd²⁺(aq) binding by the cell walls of the investigated biomass fit the Langmuir model and give the pH-independent stoichiometric site capacities ν_i and equilibrium constants K_i for metal binding at specific biomass sites i = A, B, C, and D. Tight binding sites A, B, and D of the non-living biomass are occupied by Cr^VI, sites A and C by Ni^II, sites A and D by Cd^II, and only site B by Cu^II. It is concluded that ν_i is a stoichiometric parameter that is independent of the magnitude of K_i for binding site i and that the studied heavy metals selectively and tightly bind at different biomass sites.     

Diagnosis of cardiac defects: where we've been,where we are and where we're going

There has been tremendous development in the field of prenatal diagnosis of cardiac disease in the last 30 years. Early work centered on the technical aspects of providing an accurate assessment of cardiac structure and function. Techniques of fetal cardiac screening have been developed and utilized throughout the world. More recently, investigators have begun to explore the ramifications of fetal cardiac diagnosis by assessing measures of outcome. In this article, the field of fetal echocardiography, as a screening tool for identifying congenital heart disease, and its impact on disease outcome is reviewed. Copyright © 2002 John Wiley & Sons, Ltd.     

Respiration and nitrogen metabolism of Atlantic halibut eggs (Hippoglossus hippoglossus)

Naturally spawned and fertilized eggs of Atlantic halibut,Hippoglossus hippoglossus L., were analysed for protein, free amino acids (FAA), ammonium ions and energy content. The chemical composition was found to be size-dependent but varied little during egg development. Ammonium ions did, however, accumulate during the late embryonic stage, and the trend in FAA content was downward during the same period. Rates of O₂ uptake and NH₃ excretion followed exponential patterns. A total of 1µmol O₂ was consumed and 120 nmol NH₃ excreted between the time intervals of fertilization and 1 d post hatch. Derived O:N ratios indicated that the dominant portion of the energy metabolism was lipid- or carbohydrate-based during the mid-development period but switched to FAA as hatch was approached.Correspondence should be addressed to: Zoological Laboratory, University of Bergen, Allégt. 41, N-5007 Bergen, Norway     

NITROGEN AND PHOSPHORUS IN SURFACE WATERS OF THE UPPER COLORADO RWER BASIN1

ABSTRACT: As part of a basinwide water-quality study, nitrogen and phosphorus data for the Upper Colorado River Basin from the Colorado-Utah State line to the Continental Divide were analyzed for spatial distributions, concentrations associated with various land uses, and temporal trends. Nitrogen and phosphorus concentrations generally increased in a downstream direction. Some nutrient concentrations were elevated at some sites in the upper parts of the basin in areas influenced by increasing urbanization. Sites were grouped according to land use and site type, and median nutrient concentrations were compared among groups. Sites within the agricultural areas of the basin generally had the highest concentrations of nitrogen and phosphorus; concentrations for main-stem, tributary, and urbanization sites were slightly lower than for the agricultural sites. Background sites, or sites with minimal land-use impacts, had very low median nutrient concentrations. Several sites with long-term data were analyzed for temporal trends in concentrations. Several statistically significant downward trends of low and moderate magnitude were observed for nitrogen and phosphorus species. No upward trends were observed in the data at any site.     

Germination,Growth, and Nodulation of Sesbania rostrata Grown in Pb/Zn Mine Tailings

Sesbania rostrata in pure and amended Pb/Zn tailings. About 90% of seeds of S. rostrata germinated in pure Pb/Zn tailings, which contained high concentrations of Pb, Zn, Cu, and Cd. Although seedling growth suffered from the adverse environment of Pb/Zn tailings, they became established on tailings stands, in the greenhouse, as well as on the actual tailings dam, and completed their life cycle in 4 months. Dry matter production and nitrogen accumulation was 3200 kg/ha and 69.4 kg/ha, respectively in the actual tailings dam. Applying inorganic fertilizer to Pb/Zn tailings led to no obvious improvement in growth and nodulation of S. rostrata, while tailings amended by river sediment or domestic refuse rich in organic matter improved the growth and nodulation of the species. Azorhizobium caulinodans survived and formed N-fixing stem and root nodules in S. rostrata grown in pure Pb/Zn tailings with a nodule biomass exceeding 300 mg fresh matter per plant.     

Molecular Genetic Consequences of a Population Bottleneck Associated with Reintroduction of the Mauna Kea Silversword (Arg yroxiphium sandwicense ssp. sandwicense [Asteraceae])

The endangered Mauna Kea silversword (Argyroxiphium sandwicense ssp. sandwicense) has experienced a severe decline in distribution and abundance because of predation by alien ungulates. By the late 1970s only a small remnant natural population persisted on the Mauna Kea volcano on the Island of Hawaii. The Hawaii Department of Land and Natural Resources, Division of Forestry and Wildlife, initiated an outplanting program in the 1970s to promote recovery of A. sandwicense ssp. sandwicense. Intermittent outplanting since 1973 has generated an outplanted population of over 450 plants on Mauna Kea, but the program has unintentionally resulted in a major population bottleneck. All plants in the outplanted population appear to be first- or subsequent-generation offspring of only two maternal founders from the natural population. Genetic variation in the natural and outplanted populations was assessed for 90 random amplified polymorphic DNA loci. Eleven loci were detectably polymorphic in the natural population, whereas only three loci were detectably polymorphic in the outplanted population. Thus, the population bottleneck has been accompanied by a 73% reduction in the level of detectable polymorphism. In addition, for eight loci, the population bottleneck has resulted in the loss of the marker allele in the outplanted population. A management strategy involving manual pollen transfer has recently been implemented to incorporate additional founders from the natural population into the outplanting program. As a supplement to the outplanting program, the strategy also includes a program promoting direct seedling establishment following manual pollen transfer. Incorporating additional founders may serve to overcome the legacy of the population bottleneck, especially if founder representation can be equalized.     

Egg production of Calanus finmarchicus : effect of temperature, food and season

The use of the egg production rate of herbivorous copepods as an important parameter for understanding population dynamics and as an index of secondary production requires knowledge of the regulatory mechanisms involved and of the response to changes in food concentrations and temperature. Furthermore, the effects of season and generation on egg production have to be studied. In this context data are presented for Calanus finmarchicus from the northern North Atlantic. Prefed and prestarved females were exposed to different concentrations of the diatom Thalassiosira antarctica over 1 to 2 wk at 0 or 5 °C, and egg deposition was controlled daily. Egg production increased with higher food concentrations, but much less when prestarved. The effect of temperatures between −1.5 and 8 °C on egg production was studied in females maintained at optimum feeding conditions. Egg production rate increased exponentially over the whole temperature range by a factor of 5.2, from 14.2 to 73.4 eggs female⁻¹ d⁻¹, and carbon-specific egg production by 4, from 2.1 to 8.5% body C d⁻¹. The response to starvation was also temperature dependent. In both the temperature and feeding experiments egg production rate was regulated mainly by changes of the spawning interval, while changes of clutch size were independent of experimental conditions. Different responses to optimum feeding conditions were observed in females collected in monthly intervals on three occasions between March and May. The March females deposited more clutches than the April and May females. In May, >50% of the females did not spawn at all. Maximum egg production rates were never >25% of the rate expected at 5 °C, indicating endogenous control of egg production in addition to food and temperature effects. Received: 4 August 1996 / Accepted: 11 September 1996