Prenatal diagnosis in a family with X-linked hydrocephalus

The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (H ydrocephalus as a result of S tenosis of the A queduct of S ylvius), MASA (M ental retardation, A phasia, S huffling gait, and A dducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked A genesis of the C orpus C allosum (ACC). These four disorders represent a clinical spectrum that varies both between and within families. The main clinical features of this spectrum are C orpus callosum hypoplasia, mental R etardation, A dducted thumbs, S pastic paraplegia and H ydrocephalus (CRASH syndrome). Since there is no biochemically assayed disease marker, molecular analysis of the L1CAM gene is the only means of confirming a clinical diagnosis. Most L1CAM mutations reported to date are point mutations (missense, nonsense, splice site) and only a few patients with larger rearrangements have been documented. We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. Copyright © 2005 John Wiley & Sons, Ltd.     

Diagnosing Units of Conservation Management

Species-oriented conservation programs attempt to analyze and maintain intra-specific variation in order to maximally preserve biological diversity. The "evolutionarily significant unit" has become an operational term for a group of organisms that should be the minimial unit for conservation management. No generally accepted definition for this term exists that would be the basis for the evaluation of these units in practical conservation situations. Currently, taxonomic decisions in species conservation are mostly based on the biological species concept. But the universal application of criteria of reproductive isolation or phenetic similarity to delimit conservation units is problematical. We favor a definition for evolutionarily significant units based on patterns of variation. In the theoretical framework of the phylogenetic species concept, conservation units are delimited by characters that diagnose clusters of individuals or populations to the exclusion of other such clusters. Characters are used for cladistic analysis to infer hypotheses of the phylogenetic relationships of individuals, and differentiated populations are diagnosed using population aggregation analysis. Characters can be based on genetic, morphological, ecological, or behavioral information, provided they are inferred to be heritable. The use of cladistics and population aggregation analysis has the potential to make the evaluation of evoluntionarily significant units objective and testable, an important consideration in politically controversial cases. Our cladistic approach is demonstrated by the evaluation of potential conservation units in the endangered tiger beetles Cicindela dorsalis and C. puritana .     

The ecological footprint from a systems perspective of sustainability

Summary

The Ecological Footprint (EF) is a method for estimating the biologically productive area necessary to support current consumption patterns, given prevailing technical and economic processes. By comparing human impact with the planet's limited bioproductive area. this method tests a basic ecological condition for sustainability. The ecological footprint has gained popularity for its pedagogical strength as it expresses the results of its analysis in spatial units that can easily be communicated. Many EF estimates have been performed on a global, national and sulrnationallevel. In this paper. we review the method and critically assess it from a sustainability perspective based on first order principles. We examine: ? Which aspects of sustainability are already covered by existing EF assessments;

? Which further aspects ofsustainability could be made accountable through the EF (such as areas needed to assimilate waste streams that are not yet accounted for in present assessments); and

? Those aspects ofsustainability that cannot be accountable through the EF. Thereby needing complimentary auditing tools.

Since the EF is a measure of renewable biocapacity, we argue that some dimensions of ecological sustainability should not be included in the EF. These include human activities that should be phased out to obtain sustainability, such as emissions of persistent compounds foreign to nature and qualitative aspects that represent secondary uses of ecological areas and do not, therefore, occupy a clearly identifiable additional ecological space. We also conclude that the EF is useful for documenting the overall human use or abuse of the potentially renewable functions and services of nature. Particularly, by aggregating in a consistentway a varity of human impacts, it can effectively identify the scale of the human economy by companson with the size of the biosphere.     

Techniques to Reduce the Impact of Asulam Drift from Helicopter Sprayers on Native Vegetation

Asulam is often applied from the air to control bracken. This herbicide affects other ferns and spray drift could affect their survival. This paper discusses the use of bioassays to assess drift (a) spatially around a single bracken patch, (b) downwind from sprayed areas, and (c) spatially in undulating terrain and with different vegetation cover types. The aims were to develop policies to protect sensitive habitats. It is suggested that “no-spray” buffer zones in excess of 160–180 m are needed to minimise risk. Protection of rare ferns from overstorey vegetation or from steep slopes did not occur. Although less drift was found upwind there was significant damage at the end of the helicopter runs because of errors in switching the sprayer on and off.     

Groundwater protection on Long Island,New York: a study in management capacity

Through their powers to regulate land use and their responsibilities for public water supply, local governments are critical players in groundwater protection. Unfortunately, the demands of groundwater protection are high, and many local governments do not have the ability or capacity to develop and implement appropriate management strategies. This paper analyzes groundwater protection experiences on Long Island, New York, a place where groundwater dependence is high, and threats to groundwater are serious. Long Island's experiences highlight the need to approach capacity building for groundwater protection broadly, concentrating on factors such as political commitment and citizen support; enhancement of local technical competency through linkages and support from state and federal governments; and strengthening of institutional arrangements at all levels.     

Conceptualizing Sustainability: Simulating Concrete Possibilities in an Imperfect World

This paper uses a cultural model approach to interpret and analyse the impact of an interactive computer simulation tool (GB-Quest) on the possibility of fostering dialogue about sustainability in southwestern British Columbia, Canada. We define cultural models theory, compare cultural models to mental models and illustrate some basic features of cultural models. We then describe the research process in which participants engaged in conversation, guided and facilitated by GB-Quest, about sustainability. Findings suggest that the use of cultural models frameworks reinforces participants' understanding of sustainability. In reflecting on their prior models of sustainability, we argue that study participants can elucidate how cognitive conceptual resources reflect publicly shared knowledge (Turner, 2004).     

Direct calorimetry of free-moving eels with manipulated thyroid status

In birds and mammals, the thyroid gland secretes the iodothyronine hormones of which tetraiodothyronine (T4) is less active than triiodothyronine (T3). The action of T3 and T4 is calorigenic and is involved in the control of metabolic rate. Across all vertebrates, thyroid hormones also play a major role in differentiation, development and growth. Although the fish thyroidal system has been researched extensively, its role in thermogenesis is unclear. In this study, we measured overall heat production to an accuracy of 0.1 mW by direct calorimetry in a free-moving European eel (Anguilla anguilla L.) with different thyroid status. Hyperthyroidism was induced by injection of T3 and T4, and hypothyroidism was induced with phenylthiourea. The results show for the first time at the organismal level, using direct calorimetry, that neither overall heat production nor overall oxygen consumption in eels is affected by hyperthyroidism. Therefore, we conclude that the thermogenic metabolism-stimulating effect of thyroid hormones (TH) is not present with a cold-blooded fish species like the European eel. This supports the concept that TH does not stimulate thermogenesis in poikilothermic species.     

Wastewater treatment and public health in Nunavut: a microbial risk assessment framework for the Canadian Arctic

Wastewater management in Canadian Arctic communities is influenced by several geographical factors including climate, remoteness, population size, and local food-harvesting practices. Most communities use trucked collection services and basic treatment systems, which are capable of only low-level pathogen removal. These systems are typically reliant solely on natural environmental processes for treatment and make use of existing lagoons, wetlands, and bays. They are operated in a manner such that partially treated wastewater still containing potentially hazardous microorganisms is released into the terrestrial and aquatic environment at random times. Northern communities rely heavily on their local surroundings as a source of food, drinking water, and recreation, thus creating the possibility of human exposure to wastewater effluent. Human exposure to microbial hazards present in municipal wastewater can lead to acute gastrointestinal illness or more severe disease. Although estimating the actual disease burdens associated with wastewater exposures in Arctic communities is challenging, waterborne- and sanitation-related illness is believed to be comparatively higher than in other parts of Canada. This review offers a conceptual framework and evaluation of current knowledge to enable the first microbial risk assessment of exposure scenarios associated with food-harvesting and recreational activities in Arctic communities, where simplified wastewater systems are being operated.