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.     

使用超高效液相色谱ACQUITY UPLC快速分析醛酮类化合物

醛酮类化合物是焚烧过程扩散到环境中的产物,这些化合物大部分都是已知的致癌物.因此,美国EPA和一些州开发了分析这些化合物的方法,包括US EPA TO5 (空气),方法554 (饮用水),方法8315 A选项1和2 (废水、土壤和空气),以及加利福尼亚州方法1004 (羰基化合物,机动车排放尾气中的醇类氧化物).这些方法使用二硝基苯肼(DNPH)衍生化这些化合物,然后用HPLC分离并紫外检测(吸收波长360nm),目标分析物因方法的不同而略有不同.当前使用的方法运行时间超过40min以上,需要设置多种色谱柱方可达到可接受的化合物分离度.     

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.     

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.     

Presence of Torque Teno Virus (TTV) in Tap Water in Public Schools from Southern Brazil

Torque teno virus (TTV) was surveyed in tap water collected in schools from three municipalities located in the south of Brazil. TTV genomes were found in 11.7 % (4/34) of the samples. TTV DNA was detected in 10.5 % (2/19) of the samples collected at the city of Caxias do Sul and in 25 % (2/8) of the samples from Pelotas. Those cities have a low rate of sewage treatment. All samples from Santa Cruz do Sul, which has nearly 92 % of its sewage treated, were negative. These results suggest that the amount of sewage treated may have an effect on the detection rates of TTV DNA in drinking water in a given urban area, showing a mild negative correlation (r = ?0.76), when comparing the percentage of sewage treatment to the detection of TTV genomes. The detection rate of TTV was also compared with Escherichia coli, showing a strong correlation (r = 0.97), indicating that TTV may be a suitable marker of fecal contamination.     

Double Green Process: a low environmental impact method for recycling of CdTe,a-Si and CIS/CIGS thin-film photovoltaic modules

On the basis of the method for managing the end of life of CdTe photovoltaic panels previously proposed by the authors, a new method for the recycling of all types of thin-film panels (CdTe, a-Si and CIS/CIGS) has been developed and optimised under a research project founded by Enel Foundation and CRUI Foundation. The DGP process has been developed through a feasibility study carried out from three points of view: technical, environmental and economic. The process is composed by two sub-processes matched to each other, one suitable for CdTe panels (named DGPa) and the other one for a-Si and CIS/CIGS panels (DGPb). The Double Green Panel process is based mainly on mechanical treatments with a minimum use of chemicals and it is characterised by a greater level of automation and a high flexibility in production capacity. The potential environmental impacts of various configurations of the DGP process have been extensively analysed with LCA tool in order to develop an environmentally friendly process. The economic feasibility has been assessed through the Discounted Cash Flow Analysis (DCFA) method. The revenues associated to the recovery of valuable and common materials and the recycling costs have been taken into account.     

Socioeconomic development and vulnerability to land degradation in Italy

In recent years, the surface area affected by land degradation (LD) has significantly increased in southern European regions where the socioeconomic development has been proposed as a basic factor underlying the degree of vulnerability to LD. This paper investigates the correlation between several socioeconomic indicators and the level of vulnerability to LD in Italy, expressed as changes (1990–2000) in a composite index of land vulnerability (ΔLVI). The analysis was carried out over 784 local districts. The impact of per capita value added, agricultural intensity, industrial and tourism concentration, and urban growth was separately tested on ΔLVI. Results indicate that a lower district value added, crop intensification, irrigation, and the level of land vulnerability to degradation are strongly associated with the increasing level of land vulnerability over time, highlighting the role of the socioeconomic development as a main process underlying LD. In this framework, spatially equitable sustainable development may represent the effective strategy to mitigate the detrimental effects of economic growth and regional disparities on Mediterranean LD.     

Pesticide exposure and serum organochlorine residuals among testicular cancer patients and healthy controls

The incidence of testicular cancer (TC) has been increasing worldwide during the last decades. The reasons of the increase remains unknown, but recent findings suggest that organochlorine pesticides (OPs) could influence the development of TC. A hospital-based case-control study of 50 cases and 48 controls was conducted to determine whether environmental exposure to OPs is associated with the risk of TC, and by measuring serum concentrations of OPs, including p,p'-dichlorodiphenyldichloroethylene (p,p'-DDE) isomer and hexachlorobenzene (HCB) in participants. A significant association was observed between TC and household insecticide use (odds ratio [OR] = 3.01, 95 % CI: 1.11-8.14; OR(adjusted) = 3.23, 95 % CI: 1.15-9.11). Crude and adjusted ORs for TC were also significantly associated with higher serum concentrations of total OPs (OR = 3.15, 95 % CI: 1.00-9.91; OR(adjusted) = 3.34, 95 % CI: 1.09-10.17) in cases compared with controls. These findings give additional support to the results of previous research that suggest that some environmental exposures to OPs may be implicated in the pathogenesis of TC.     

Seasonal fluctuations of DDTs and PCBs in zooplankton and fish of Lake Maggiore (Northern Italy)

Concentrations of DDTs and PCBs were determined in the zooplankton and in three different fish species (shad, whitefish and roach) collected seasonally during 2009 and 2010 in three sites in Lake Maggiore, a south-alpine lake that has been contaminated by DDT since 1996. As previously observed in 2008, even during 2009 DDTs concentrations were higher in zooplankton than in fish, probably due to the very unstable situation of the lake still influenced by local inputs. The situation changed in 2010, when all DDT compounds increased in fish to levels much higher than those measured in zooplankton. Biomagnification was statistically demonstrated for pp′DDE in all the three fish species, indicating a probable signal of recovery of the lake.Although with respect to total PCBs we observed that the contamination levels varied across time periods and across fish species, biomagnification was evident from zooplankton to fish both in 2009 and in 2010. As concern individual PCBs, biomagnification from zooplankton to all three fish species was significant for PCB 153 and PCB 138.     

Effect of modified Fenton treatment on the thermal behavior of contaminated harbor sediments

This study presents the results of experimental Fenton-like treatments conducted on marine sediment slurries (2g sediment vs. 20 ml liquid). The sediment was collected in a harbor situated in a high density industrial area, characterized by a great hydrocarbon C>12 and PAHs contamination. The investigated parameters were: the H(2)O(2) dose, the reagent's pH and the effect of a phosphate salt and ferrous iron addition. To evaluate sediment's characteristics COD, particle size, thermogravimetric and differential thermal analyses were performed under N(2) and O(2) atmosphere while dissolved organic carbon and COD analyses were performed on the filtrate. Results indicate that the treatment was able to change the organic matter to a less hydrophobic state, to destroy part of the organic carbon (up to 78% decrease of the 200-400 degrees C labile organic matter), to lower the COD of the sediment (60% COD removal maximum) and to increase the cumulated distribution undersize. In addition as the treated sediment showed easier-to-handle characteristics, reduced caking and lower aggregation capacity, the modified Fenton treatment could also be considered a pre-treatment of a successive thermal treatment.