Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.     

Prenatal diagnosis with biotinylated chromosome specific probes

We have used a Y-chromosome specific DNA probe in a controlled study to determine the presence of Y-chromosome material and to detect numerical abnormalities in uncultured amniotic fluid cells by fluorescent hybridization. Using this non-radioactive method, we correctly predicted fetal sex within 48 h in all but 3 of 54 cases and identified an XYY syndrome. The technique was previously tested with no false-positive or false-negative results on cultured interphase or metaphase nuclei of fetal fibroblasts and adult T-lymphocytes. Fluorescent in situ hybridization was applied to long-term fixed cytogenetic preparations up to 44 months old and was shown to be reliable.     

The cost of being an omnivore: mandible wear from plant feeding in a true bug

Evolutionary and ecological transitions from carnivorous to omnivorous feeding may be constrained by the ability of the animal to cope with disparate types of foods, even if preadaptations for such behaviour exist. The omnivorous true bug, Dicyphus hesperus (Hemiptera: Miridae) requires both animals (small, soft-bodied insects) and plants in its diet and obtains the majority of its dietary and metabolic water from plant feeding. Serrations on the lateral margins of the mandibular stylets wear with age, and this wear is exacerbated when the insects feed on plants compared to those provided free water and no plants. D. hesperus that feed on plants attack fewer prey but consumed similar amounts of prey tissue compared to individuals that were provided free water. Although others have shown mandible wear for plant-chewing animals we show for the first time that plant feeding can impose similar wear on plant-piercing animals as well.     

Digenean trematodes infecting the tropical abalone <Emphasis Type="Italic">Haliotis asinina</Emphasis> have species-specific cercarial emergence patterns that follow daily or semilunar spawning cycles

Approximately 1–2% of the tropical abalone Haliotis asinina inhabiting Heron Island Reef are infected with opecoelid digeneans. These largely inhabit the haemocoel surrounding the cerebral ganglia and digestive gland–gonad complex, and infected abalone typically have significantly reduced or ablated gonads. Observations of infected abalone reveal two distinct cercarial emergence patterns, one which correlates tightly with the abalone’s highly regular and synchronous fortnightly spawning cycle, and the other which occurs in a circadian pattern. The former appears to be a novel emergence strategy not previously observed in digeneans. While the cercariae in all abalone are morphologically indistinguishable, comparison of sequences from the internal transcribed spacer 2 (ITS 2) region of the ribosomal DNA reveals a 5.7% difference between cercariae displaying different emergence patterns, indicating these are two distinct species that probably belong to the same genus. The ITS 2 sequences of the species with the daily emergence pattern are identical to that of an undescribed adult opecoelid from the gut of the barramundi cod, Cromileptes altivelis. Combined molecular, morphological and emergence data suggest that while these opecoelid cercariae use the same first intermediate host and are closely related species—members of the genus Allopodocotyle—they fill different ecological niches that are likely to include different definitive hosts.     

Secondary metabolite and inorganic contents in<Emphasis Type="Italic"> Cystodytes</Emphasis> sp. (Ascidiacea): temporal patterns and association with reproduction and growth

Temporal variation is one of the least known components of defence production in marine organisms. Here we examined whether there is a predictable temporal pattern in the production of chemical and structural defences by a marine invertebrate. To assess the seasonal variation in chemical defence, we measured ascididemin, the main pyridoacridine alkaloid in the blue Mediterranean morph of the ascidian Cystodytes sp. Structural defence variability was assessed on the basis of colony ash content, as it contains mainly spicules. Ascididemin concentration and the colony ash content displayed an annual cycle, reaching a minimum in spring and peaking in summer. Cross-correlation analyses with existing data on growth and reproduction suggested a significant trade-off between investment in reproduction and the other biological parameters considered (growth, inorganic content and ascididemin concentration). Our results suggest that optimization of resource allocation, probably influenced by biotic interactions and physical factors, shaped the temporal trends observed in secondary metabolite concentration and inorganic content.     

Atmospheric heavy metals in tropical South America during the past 22,000 years recorded in a high altitude ice core from Sajama, Bolivia

V, Co, Cu, Zn, As, Rb, Sr, Ag, Cd, Ba, Pb, Bi and U have been analysed by inductively coupled plasma sector field mass spectrometry in various sections of a dated snow/ice core drilled at an altitude of 6542 m on the Sajama ice cap in Bolivia. The analysed sections were dated from the Last Glacial Stage ( approximately 22,000 years ago), the Mid-Holocene and the last centuries. The observed variations of crustal enrichment factors (EFc) for the various metals show contrasting situations. For V, Co, Rb, Sr and U, EFc values close to unity are observed for all sections, then showing that these elements are mainly derived from rock and soil dust. For the other metals, clear time trends are observed, with a pronounced increase of EFc values during the 19th and 20th centuries. This increase shows evidence of metal pollution associated with human activity in South America. For Pb an important contribution was from gasoline additives. For metals such as Cu, Zn, Ag and Cd an important contribution was from metal production activities, with a continuous increase of production during the 20th century in countries such as Peru, Chile and Bolivia.     

THE AMERICAN INDIAN AND MISSOURI RIVER WATER DEVELOPMENTS1

ABSTRACT: The construction of three Missouri River main stem dams, Garrison, Oahe and Fort Randall, and the related reservoir taking caused social and economic changes on five Indian reservations, Fort Berthold, Cheyenne River, Standing Rock, Crow Creek and Lower Brute. The inundation of Missouri River riparian lands caused the loss of important cultural, social and economic environments. Ninety percent of the reservations timber, seventy-five percent of its wildlife and most of the fertile cropland were in the reservoir taking area. Urban and more fertile environments downstream and to the east received most of the projects benefits. The Indian minority on the five reservations received few economic and social benefits after bearing a disporportionate share of the social and economic costs of the developments. Relocation was forced upon those who had the longest historic and cultural claim to the land. The social costs to the American Indian occasioned by the Missouri River water developments illustrates two broad areas seldom considered during the decision process. First, the unique historic, cultural or religious values of minorities affected by developments. Second, the disproportionate spacial allocation of both benefits and costs. The second item includes social, economic and cultural considerations in not just a geographic framework but a cultural framework as well.     

Fate and potential environmental effects of methylenediphenyl diisocyanate and toluene diisocyanate released into the atmosphere

Information from a variety of sources has been collected and summarized to facilitate an overview of the atmospheric fate and potential environmental effects of emissions of methylenediphenyl diisocyanate (MDI) or toluene diisocyanate (TDI) to the atmosphere. Atmospheric emissions of both MDI and TDI are low, both in terms of concentration and mass, because of their low volatility and the need for careful control over all aspects of their lifecycle from manufacture through disposal. Typical emission losses for TDI are 25 g/t of TDI used in slabstock foam production. MDI emission losses are lower, often less than 1 g/t of MDI used. Dispersion modeling predicts that concentrations at the fenceline or beyond are very low for typical releases. Laboratory studies show that TDI (and by analogy MDI) does not react with water in the gas phase at a significant rate. The primary degradation reaction of these aromatic diisocyanates in the atmosphere is expected to be oxidation by OH radicals with an estimated half-life of one day. Laboratory studies also show that this reaction is not expected to result in increased ground-level ozone accumulation.