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.     

Circulating ‘trophoblast’ cells in pregnancy have maternal genetic markers

A syncytiotrophoblast-associated antigen identified by the monoclonal antibody (McAb) H315 is detectable on the surface of a low proportion of peripheral blood cells in pregnant women, raising the possibility of a new approach to prenatal diagnosis of genetic disorders. We aimed at verifying the trophoblastic origin of H315⁺ cells and their use for prenatal diagnosis of β-thalassaemia. H315 ⁺ cells were separated from the peripheral blood of pregnant women: the DNA obtained from these cells in two selected cases was shown to have genetic markers indistinguishable from those of the mother and definitely different from the fetus. Our results suggest that H315 antigen is expressed by maternal cells and that prenatal diagnosis on peripheral blood of the mother using H315 McAb is not feasible.     

Business for ocean sustainability: Early responses of ocean governance in the private sector

A large sample of 1664 companies—69 directly working in the ocean economy—distributed across 19 industrial sectors was investigated to explore awareness and activation regarding direct and indirect pressures on the ocean, their responses to these pressures, and the disclosure tools used. We examined their accountability and disclosure practices on sustainable development goals (SDGs) using the drivers, pressures, state, welfare, and response accounting framework. Based on their 2019 sustainability reports, just 7% of the companies assessed disclosed on SDG14. However, 51% of these companies can be considered as aware, albeit to varying degrees, of the pressures their industries place on the oceans, 44% deploy mitigating activities, and 26% are aware and actively lead business responses to ocean challenges. Although we have seen just early responses in addressing ocean challenges, companies’ awareness and activation must converge to achieve ocean sustainability and move businesses into a truly blue economy.Supplementary InformationThe online version contains supplementary material available at 10.1007/s13280-022-01784-2.     

Change in avian functional fingerprints of a Neotropical montane forest over 100 years as an indicator of ecosystem integrity

Ecologically relevant traits of organisms in an assemblage determine an ecosystem's functional fingerprint (i.e., the shape, size, and position of multidimensional trait space). Quantifying changes in functional fingerprints can therefore provide information about the effects of diversity loss or gain through time on ecosystem condition and is a promising approach to monitoring ecological integrity. This, however, is seldom possible owing to limitations in historical surveys and a lack of data on organismal traits, particularly in diverse tropical regions. Using data from detailed bird surveys from 4 periods across more than a century, and morphological and ecological traits of 233 species, we quantified changes in the avian functional fingerprint of a tropical montane forest in the Andes of Colombia. We found that 78% of the variation in functional space, regardless of period, was described by 3 major axes summarizing body size, dispersal ability (indexed by wing shape), and habitat breadth. Changes in species composition significantly altered the functional fingerprint of the assemblage and functional richness and dispersion decreased 35–60%. Owing to species extirpations and to novel additions to the assemblage, functional space decreased over time, but at least 11% of its volume in the 2010s extended to areas of functional space that were unoccupied in the 1910s. The assemblage now includes fewer large-sized species, more species with greater dispersal ability, and fewer habitat specialists. Extirpated species had high functional uniqueness and distinctiveness, resulting in large reductions in functional richness and dispersion after their loss, which implies important consequences for ecosystem integrity. Conservation efforts aimed at maintaining ecosystem function must move beyond seeking to sustain species numbers to designing complementary strategies for the maintenance of ecological function by identifying and conserving species with traits conferring high vulnerability such as large body size, poor dispersal ability, and greater habitat specialization. Article impact statement: Changes in functional fingerprints provide a means to quantify the integrity of ecological assemblages affected by diversity loss or gain.     

Recycling-oriented characterization of plastic frames and printed circuit boards from mobile phones by electronic and chemical imaging

This study characterizes the composition of plastic frames and printed circuit boards from end-of-life mobile phones. This knowledge may help define an optimal processing strategy for using these items as potential raw materials. Correct handling of such a waste is essential for its further “sustainable” recovery, especially to maximize the extraction of base, rare and precious metals, minimizing the environmental impact of the entire process chain. A combination of electronic and chemical imaging techniques was thus examined, applied and critically evaluated in order to optimize the processing, through the identification and the topological assessment of the materials of interest and their quantitative distribution. To reach this goal, end-of-life mobile phone derived wastes have been systematically characterized adopting both “traditional” (e.g. scanning electronic microscopy combined with microanalysis and Raman spectroscopy) and innovative (e.g. hyperspectral imaging in short wave infrared field) techniques, with reference to frames and printed circuit boards. Results showed as the combination of both the approaches (i.e. traditional and classical) could dramatically improve recycling strategies set up, as well as final products recovery.     

Simultaneous removal of emerging contaminants and disinfection for municipal wastewater treatment plant effluent quality improvement: a systemic analysis of the literature

Environmental Science and Pollution Research - This work presents a bibliographic review of the literature regarding the simultaneous removal of contaminants of emerging concern (CECs) and...     

Alternative methods for the pilot-scale production and characterization of chitosan nanoparticles

Environmental Science and Pollution Research - This work describes the production/characterization of low molar mass chitosan nanoparticles derived from waste shrimp shells (SSC), as well as from a...     

Estimating the Genuine Progress Indicator (GPI) for the State of Rio de Janeiro,Brazil, from 2002 to 2016, as a tool for public policy decision making

Environment, Development and Sustainability - This paper estimates the genuine progress indicator (GPI) for the state of Rio de Janeiro (RJ), Brazil, from 2002 to 2016 as an alternative indicator...     

1,4-Dioxane removal from water and membrane fouling elimination using CuO-coated ceramic membrane coupled with ozone

Environmental Science and Pollution Research - 1,4-Dioxane is a synthetic cyclic ether traditionally used as a chlorinated solvent stabilizer. It is a small molecule and recalcitrant compound that...     

Effects of physical exercise on musculoskeletal disorders,stress and quality of life in workers

Background. The effect of physical exercise in the workplace (PEW) on health promotion of workers is contradictory. Objective. To evaluate the effects of the PEW in musculoskeletal disorders (MSDs), perception of stress and quality of life in workers. Methods. The participants were divided into two groups: control group (n?=?46) including non-participant workers of the PEW program, and PEW group (n?=?50) including workers who regularly participate in the exercise program. All workers answered the Nordic general questionnaire, the perceived stress scale and the quality-of-life questionnaire. Results. The PEW group reported a lower prevalence of MSDs for the trunk in the last 7 days and 12 months (p?=?0.021 and p?=?0.001, respectively), and for the upper limbs in the last 12 months (p?=?0.001) compared with the control group. The results for the perception of stress and quality of life showed no significant differences between the groups. Conclusion. PEW is a potential method to reduce MSDs in workers, but it was not efficient in reducing stress levels or improving the quality of life of the workers.