Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

湿排法金矿尾矿库环境风险评价实例分析

环境风险评价从20世纪80年代以来就被发达国家纳入环境管理的范畴,我国目前也将其作为可能发生事故危险的建设项目环境管理的重要内容。本文以北方某湿排法金矿尾矿库为例,对其进行环境风险评价。通过风险识别,确定了最大可信事故,并在此基础上提出了风险管理措施。     

Revisiting the Life Cycle Assessment of mussels from a sectorial perspective

Mussels as a commercial product involve a range of activities which can be included within four different sub-sectors: culture, dispatch centres, canning factories and, finally, cooking plants. This paper deals with the environmental evaluation of the whole mussel sector from a Life Cycle Assessment approach. The use of exhaustive inventories led to the subsequent environmental characterization of the mussel sector in terms of the contribution observed for each of the sub-sectors. In this sense, the sub-sector associated with dispatch centres presented the largest contributions to the potential environmental impacts, clearly ahead of mussel farming. Furthermore, the sub-sectors of mussel cooking plants and canning factories showed a much lower contribution to the potential environmental impacts. Several improvement potentials were identified from the characterization results, stressing the minimization of the electric energy consumption in dispatch centres. A comparative LCA was performed in order to contrast the environmental performance of the three main commercial mussel products: fresh mussels, canned mussels and frozen mussels. The analysis showed that fresh mussels have the least favourable environmental profile.     

Environmental performance evaluation of agro-industrial innovations – Part 2: methodological approach for performing vulnerability analysis of watersheds

Environmental vulnerability analysis has been sparsely used in environmental performance evaluation (EPE) of technological innovations. The present paper proposes a methodological approach to carry out vulnerability analysis of watersheds and to integrate this analysis into methods of environmental performance evaluation of agro-industrial innovations. This approach is applied to the Ambitec-Life Cycle method, described in Part 1 (this issue) of this study. The case study of green coconut substrate compared to ripe coconut substrate, also described in Part 1 (this issue), is now presented considering the vulnerability analysis of the watersheds where the life cycle stages of these products occur. The integration of vulnerability analysis in Ambitec-Life Cycle contributes to a better understanding of the environmental aspects of agro-industrial technological innovations with potential to cause significant impacts in watersheds where these innovations are implemented.     

Variations of immune parameters in terrestrial isopods: a matter of gender, aging and Wolbachia

Ecological factors modulate animal immunocompetence and potentially shape the evolution of their immune systems. Not only environmental parameters impact on immunocompetence: Aging is one major cause of variability of immunocompetence between individuals, and sex-specific levels of immunocompetence have also been frequently described. Moreover, a growing core of data put in light that vertically transmitted symbionts can dramatically modulate the immunocompetence of their hosts. In this study, we addressed the influence of gender, age and the feminising endosymbiont Wolbachia (wVulC) on variations in haemocyte density, total PO activity and bacterial load in the haemolymph of the terrestrial isopod Armadillidium vulgare. This host–symbiont system is of particular interest to address this question since: (1) wVulC was previously shown as immunosuppressive in middle-aged females and (2) wVulC influences sex determination. We show that age, gender and Wolbachia modulate together immune parameters in A. vulgare. However, wVulC, which interacts with aging, appears to be the prominent factor interfering with both PO activity and haemocyte density. This interference with immune parameters is not the only aspect of wVulC virulence on its host, as reproduction and survival are also altered.     

Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders

Objective

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.

Method

The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.

Results

The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.

Conclusion

EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.