Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

Melatonin ameliorates chronic copper-induced lung injury

Environmental Science and Pollution Research - Copper (Cu) is an important trace element required for several biological processes. The use of copper is increasing gradually in several...     

A comparative study on the raw chitin and chitosan yields of common bio-waste from Philippine seafood

Environmental Science and Pollution Research - Bio-waste materials from aquatic species are alternative sources of chitin and chitosan—high-value natural biodegradable and biocompatible...     

Constraints to Watershed Planning: Group Structure and Process1

Floress, Kristin, Jean C. Mangun, Mae A. Davenport, and Karl W.J. Williard, 2009. Constraints to Watershed Planning: Group Structure and Process. Journal of the American Water Resources Association (JAWRA) 45(6):1352‐1360. Abstract: The roles that agencies and other partners play in collaborative watershed management are not always clearly identified. Key factors contributing to group‐level outcomes in watershed groups include both structural and procedural elements. Structural elements include membership systems, project partners, and funding, while procedural elements include leadership, shared vision, and mission development. The current research reports on a case study conducted with a Midwestern watershed group that received Clean Water Act Section 319 funds to undertake a watershed planning process. Data come from focus groups, interviews, public comments, and meeting observation, and were analyzed using grounded theory. Findings of this study indicate that homogenous skill set, discord over group and partner roles, and failed problem identification contributed to the organizational inertia experienced by the watershed group. Implications of this research for groups receiving 319 funds are provided.     

On the crucial importance of a small bird: The ecosystem services of the little auk (<Emphasis Type="Italic">Alle alle</Emphasis>) population in Northwest Greenland in a long-term perspective

The little auk is the most numerous seabird in the North Atlantic and its most important breeding area is the eastern shores of the North Water polynya. Here, a population of an estimated 33 million pairs breeds in huge colonies and significantly shapes the ecosystem. Archaeological remains in the colonies document that the little auk has been harvested over millennia. Anthropological research discloses how the little auk has a role both as social engineer and as a significant resource for the Inughuit today. The hunting can be practiced without costly equipment, and has no gender and age discrimination in contrast to the dominant hunt for marine mammals. Little auks are ecological engineers in the sense that they transport vast amounts of nutrients from sea to land, where the nutrients are deposited as guano. Here, the fertilized vegetation provides important foraging opportunities for hares, geese, fox, reindeer, and the introduced muskox. We estimate that the relative muskox density is ten times higher within 1 km of little auk fertilized vegetation hotspots.     

Detection of potential harmful algal bloom-causing microalgae from freshwater prawn farms in Central Luzon,Philippines, for bloom monitoring and prediction

Prawn aquaculture industry is one of the developing economic activities in the Philippines. Generally, a wide range of microalgae typically grow and proliferate in many aquaculture ponds. However, certain species of microalgae have the ability to form harmful algal blooms (HABs) which often bring damaging consequences to the aquaculture industry, food safety, and the environment. The study aims to identify and characterize the composition of microalgae (particularly Cyanophyta) that are capable of forming HABs in selected freshwater prawn culture ponds in Central Luzon, Philippines, using morphological, ultrastructural, and molecular characterizations. From water samples collected in ten selected ponds across Central Luzon (Bulacan, Nueva Ecija, Pampanga, Tarlac, and Zambales), potential HAB formers such as Oscillatoria agardhii, O. princeps, Microcystis aeruginosa, and M. wesenbergii were observed to have occurred mostly, while Anabaena circinalis was only observed in one site. Both morphological and ultrastructural methods brought upon some challenges and limitations while molecular methods using 16S rRNA gene and phylogenetic analysis which were optimized in this study offered better and more efficient ways of identification and were helpful in resolving genus-level and species-level relationships. The influence of physicochemical properties of pond water, especially nutrient levels (nitrate, nitrite, and orthophosphate) on the occurrence of these cyanobacteria was also analyzed. As a pioneering study on freshwater HABs in aquaculture ponds in the country, results of the study can provide information to improve the knowledge in bloom occurrence and prediction, and to develop freshwater HAB prevention and control methods.     

Copper distribution in surface and subsurface soil horizons

The horizons of four natural soils were treated with Cu²⁺ in an acid medium to study the retention capacity of Cu. The possible mineralogical changes arising because of the treatment were also studied. The soil properties and characteristics with the greatest influence on the metal retention and its distribution among the different soil fractions were determined. Crystalline phases of each horizon were determined by X-ray diffraction (XDR). The morphology, structural distribution and particle chemical composition of soil samples were investigated using field emission scanning electron microscopy. Cu distribution in the different geochemical phases of the soil was studied using a sequential extraction. The treatment led to an increase in the amorphous phases and the formation of new crystalline phases, such as rouaite (Cu₂(NO₃)(OH)₃) and nitratine (NaNO₃). Cu was also found superficially sorbed on amorphous hydroxy compounds of Fe that interact with albite, muscovite and gibbsite, and also on spherical and curved particles of aluminium clays. The largest amount of Cu retained was in an exchangeable form, and the smallest amount associated with the crystalline Fe oxides and residual fraction. In the surface horizons, the predominant Cu retention process is complexation in organomineral associations, while in the subsurface horizons it is adsorption.     

An Assessment of the Significance of Mercury Release from Coal Fly Ash

Abstract

Some mercury (Hg) naturally present in coal is retained in the fly ash remaining after combustion. Concern has been raised regarding the potential for release of this Hg to the environment. The exchange of Hg between fly ash and the atmosphere was measured in the laboratory and in situ at a fly ash landfill. All samples of fly ash used in the laboratory study, with the exception of that derived from lignite-type coal, acted as a sink for atmospheric Hg. Deposition rates were found to increase as air Hg concentrations increased and to decrease with incident light and increased temperature. Addition of water to fly ash samples resulted in re-emission of deposited atmospheric Hg. Deposition was the dominant flux measured in situ at a fly ash landfill. Atmospheric Hg was deposited to all samples collected as part of two demonstration projects using carbon injection for enhanced Hg capture. Hg concentrations of extracts derived using U.S. Environmental Protection Agency Method 1312 (Synthetic Precipitation Leaching Procedure) were ≤14.4 ng/L. Data developed demonstrate that fly ash, including that collected from Hg removal projects, will release little Hg to the air or water, and under certain conditions, absorbs Hg from the air.     

Letters to The Editor

Abstract

Since 1990, basic knowledge of the “chemical climate” of fine particles, has greatly improved from Junge’s compilation from the 1960s. A worldwide baseline distribution of fine particle concentrations on a synoptic scale of approximately 1000 km can be estimated at least qualitatively from measurements. A geographical distribution of fine particle characteristics is deduced from a synthesis of a variety of disparate data collected at ground level on all continents, especially in the northern hemisphere. On the average, the regional mass concentrations range from 1 to 80 μg/m³, with the highest concentrations in regions of high population density and industrialization. Fine particles by mass on a continental and hemispheric spatial scale are generally dominated by non-sea salt sulfate (0.2 to ～20 μg/m³, or ～25%) and organic carbon (0.2->10 μg/m³, or ～25%), with lesser contributions of ammonium, nitrate, elemental carbon, and elements found in sea salt or soil dust. The crustal and trace metal elements contribute a varied amount to fine particle mass depending on location, with a larger contribution in marine conditions or during certain events such as dust storms or volcanic disturbances. The average distribution of mass concentration and major components depends on the proximity to areal aggregations of sources, most of which are continental in origin, with contributions from sea salt emissions in the marine environment. The highest concentrations generally are within or near very large population and industrial centers, especially in Asia, including parts of China and India, as well as North America and Europe. Natural sources of blowing dust, sea salt, and wildfires contribute to large, intermittent spatial-scale particle loadings beyond these ranges. A sampling of 10 megacities illustrates a range of characteristic particle composition, dependent on local and regional sources. Long-range transport of pollution from spatially aggregated sources over hundreds of kilometers creates persistent regional- and continental-scale gradients of mass concentration, sulfate, and carbon species especially in the northern hemisphere. Data are sparse in the southern hemisphere, especially beyond 45° S, but are generally very low in mass concentrations.