Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

A case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.     

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.     

Fetoscopic myelomeningocoele closure: Is the scientific evidence enough to challenge the gold standard for prenatal surgery?

Since the completion of the Management of Myelomeningocoele Study, maternal-fetal surgery for spina bifida has become a valid option for expecting parents. More recently, multiple groups are exploring a minimally invasive approach and recent outcomes have addressed many of the initial concerns with this approach. Based on a previously published framework, we attempt to delineate the developmental stage of the surgical techniques. Furthermore, we discuss the barriers of performing randomized controlled trials comparing two surgical interventions and suggest that data collection through registries is an alternative method to gather high-grade evidence.     

Speciation of arsenic in plants by HPLC-HG-AFS: extraction optimisation on CRM materials and application to cultivated samples

A recently developed method for the determination of arsenic species (arsenite, arsenate, monomethylarsonate, MMAA, and dimethylarsinate, DMAA) has been applied to the study of arsenic speciation in plants. This method uses ion-exchange liquid chromatography coupled on-line to atomic fluorescence spectrometry through continuous hydride generation. Various extraction procedures have been studied in detail using three plant certified reference materials. None of the procedures tested revealed fully satisfying results with all kinds of plant samples; microwave assisted extraction with 0.3 mol dm-3 orthophosphoric acid was found to be the most convenient for dealing with terrestrial plants. Species stability appears good. This method was applied to real world cultivated plant parts. Arsenate appears to predominate in soils, roots and leaves; unidentified species (probably arsenosugars) play an important role (60%) in rice fruits. Carrot was found to be the most contaminated edible plant part, containing 1 mg kg-1 essentially as arsenate species. MMAA was detected in all soils and some plant parts especially shallots at low levels, whereas DMAA was found only in one soil sample and in hot pepper leaves. Arsenite is a minor component of all soils; it is also present in some plant parts at low levels. However, no evident relationships were found between As speciation in the various plant parts and much more detailed studies will be necessary to elucidate As behaviour in plants.     

Defending the scientific integrity of conservation‐policy processes

Government agencies faced with politically controversial decisions often discount or ignore scientific information, whether from agency staff or nongovernmental scientists. Recent developments in scientific integrity (the ability to perform, use, communicate, and publish science free from censorship or political interference) in Canada, Australia, and the United States demonstrate a similar trajectory. A perceived increase in scientific‐integrity abuses provokes concerted pressure by the scientific community, leading to efforts to improve scientific‐integrity protections under a new administration. However, protections are often inconsistently applied and are at risk of reversal under administrations publicly hostile to evidence‐based policy. We compared recent challenges to scientific integrity to determine what aspects of scientific input into conservation policy are most at risk of political distortion and what can be done to strengthen safeguards against such abuses. To ensure the integrity of outbound communications from government scientists to the public, we suggest governments strengthen scientific integrity policies, include scientists’ right to speak freely in collective‐bargaining agreements, guarantee public access to scientific information, and strengthen agency culture supporting scientific integrity. To ensure the transparency and integrity with which information from nongovernmental scientists (e.g., submitted comments or formal policy reviews) informs the policy process, we suggest governments broaden the scope of independent reviews, ensure greater diversity of expert input and transparency regarding conflicts of interest, require a substantive response to input from agencies, and engage proactively with scientific societies. For their part, scientists and scientific societies have a responsibility to engage with the public to affirm that science is a crucial resource for developing evidence‐based policy and regulations in the public interest.     

Accumulation of trace metals in the muscle and liver tissues of five fish species from the Persian Gulf

In this study, concentrations of 16 elements were quantified in muscles and livers of 141 fishes belonging to five commercially species. It was also our intention to evaluate potential risks to human health associated with seafood consumption. The grunt, flathead, greasy grouper, tiger-tooth croaker and silver pomfret fish species were obtained from Abadan, Deylam, Bushehr-Nirogah, Dayyer port, Lengeh port and Abbas port in Hormozgan, Bushehr and Khozesran provinces at the Iranian waters of the Persian Gulf. The contents of Al, As, Be, Cd, Cr, Co, Cu, Fe, Pb, Mn, Mo, Ni, Sb, Tl, V and Zn in fish muscles and livers were determined by Inductively Coupled Plasma Mass Spectrometry (ICP MS), after digestion in a CEM (Mars 5) microwave oven using nitric acid and hydrogen peroxide. Our results indicated that almost all metals were more accumulated in younger flathead, greasy grouper and tiger-tooth fishes. Contrary to the other fish species, grunt seems to stronger accumulating elements in the older fishes. Strong and positive correlations were observed in three or more of the fish species between V, Al, Fe, Tl, Co and Pb. The results confirmed that fish muscle and liver tissues appeared to be good bio-indicators for identification of coastal areas exposed to metallic contaminants. The results also showed that the element levels in the muscles of all fishes in our study were lower than the maximum allowable concentrations and pose no threat to public health, except for arsenic.     

Isolation and characterization of mesotrione-degrading Bacillus sp. from soil

Dissipation kinetics of mesotrione, a new triketone herbicide, sprayed on soil from Limagne (Puy-de-Dôme, France) showed that the soil microflora were able to biotransform it.Bacteria from this soil were cultured in mineral salt solution supplemented with mesotrione as sole source of carbon for the isolation of mesotrione-degrading bacteria. The bacterial community structure of the enrichment cultures was analyzed by temporal temperature gradient gel electrophoresis (TTGE). The TTGE fingerprints revealed that mesotrione had an impact on bacterial community structure only at its highest concentrations and showed mesotrione-sensitive and mesotrione-adapted strains. Two adapted strains, identified as Bacillus sp. and Arthrobacter sp., were isolated by colony hybridization methods.Biodegradation assays showed that only the Bacillus sp. strain was able to completely and rapidly biotransform mesotrione. Among several metabolites formed, 2-amino-4-methylsulfonylbenzoic acid (AMBA) accumulated in the medium. Although sulcotrione has a chemical structure closely resembling that of mesotrione, the isolates were unable to degrade it.     

Radiofrequency exposure in the French general population: Band, time, location and activity variability

Information on the exposure of individual persons to radiofrequency (RF) fields is scarce, although such data are crucial in order to develop a suitable exposure assessment method, and frame the hypothesis and design of future epidemiological studies. The main goal of this survey is to assess individual RF exposure on a population basis, while clarifying the relative contribution of different sources to the total exposure. A total of 377 randomly selected people were analyzed. Each participant was supplied with a personal exposure meter for 24-hour measurements (weekday), and kept a time–location–activity diary. Electric field strengths were recorded in 12 different RF bands every 13 s. Summary statistics were calculated with the robust regression on order statistics method. Most of the time, recorded field strengths were not detectable with the exposure meter. Total field, cordless phones, WiFi-microwave, and FM transmitters stood apart with a proportion above the detection threshold of 46.6%, 17.2%, 14.1%, and 11.0%, respectively. The total field mean value was 0.201 V/m, higher in urban areas, during daytime, among adults, and when moving. When focusing on specific channels, the highest mean exposure resulted from FM sources (0.044 V/m), followed by WiFi-microwaves (0.038 V/m), cordless phones (0.037 V/m), and mobile phones (UMTS: 0.036 V/m, UMTS: 0.037 V/m). Various factors, however, contributed to a high variability in RF exposure assessment. These population-based estimates should therefore be confirmed by further surveys to better characterize the exposure situation in different microenvironments.