All-in-one whole exome sequencing strategy with simultaneous copy number variant,single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience

Objective

We performed a 1-year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and copy-number-neutral Absence-of-Heterozygosity from Whole Exome Sequencing (WES) data for prenatal diagnosis of fetuses with ultrasound (US) anomalies and a non-causative QF-PCR result.

Methods

After invasive diagnostics, whole exome parent-offspring trio-sequencing with exome-wide CNV analysis was performed in pregnancies with fetal US anomalies and a non-causative QF-PCR result (WES-CNV). On request, additional SNV-analysis, restricted to (the) requested gene panel(s) only (with the option of whole exome SNV-analysis afterward) was performed simultaneously (WES-CNV/SNV) or as rapid SNV-re-analysis, following a normal CNV analysis.

Results

In total, 415 prenatal samples were included. Following a non-causative QF-PCR result, WES-CNV analysis was initially requested for 74.3% of the chorionic villus (CV) samples and 45% of the amniotic fluid (AF) samples. In case WES-CNV analysis did not reveal a causative aberration, SNV-re-analysis was requested in 41.7% of the CV samples and 17.5% of the AF samples. All initial analyses could be finished within 2 weeks after sampling. For SNV-re-analysis during pregnancy, turn-around-times (TATs) varied between one and 8 days.

Conclusion

We show a highly efficient all-in-one WES-based strategy, with short TATs, and the option of rapid SNV-re-analysis after a normal CNV result.     

Repetitive Strain in Nonrepetitive Work: A Case Study

In a Québec factory, a woman in a nontraditional job suffered from epicondylitis whereas her male coworkers were unaffected. A study was undertaken in order to enumerate the operations at risk for epicondylitis. Workers were interviewed in order to identify difficult operations and systematic observations were done over 4 work days. Although tasks were extremely varied, certain movements at risk for epicondylitis were repeated many times. Fifty-three valves were turned against resistance as part of this job, and one valve requiring a particularly difficult movement was turned 20 times in one day. There were at least 61 operations at risk for epicondylitis per day over a 4-day period. Strain on the elbow joint was particularly intense for the woman worker because the design of the workplace gave an advantage to taller workers with larger hands. Although this case study does not permit us to conclude that the worker’s epicondylitis was due to her job, it enables us to suggest that it would be wise to adapt the dimensions of relevant equipment and worksites to a wider range of potential worker sizes. We also raise some questions about the definition of repetitive strain in epidemiological studies. We suggest that it may be necessary to consider not only the cycle time but also the total of forces exerted on a joint in order to study workplace injuries to the musculoskeletal system.     

In utero sonographic diagnosis of a communicating enteric duplication cyst in a giant omphalocele

Enteric duplications are rare lesions, and relatively few cases have been diagnosed prenatally. We present, to our knowledge, the first case of an associated communicating ileal duplication cyst in a huge omphalocele diagnosed prenatally. The prenatal ultrasound findings revealed four features of the cystic lesion including peristaltic movements of the cystic wall, communication between the cyst and normal bowel lumen, intra-cystic echogenic contents, and echogenic mesenteric tissue (fat) close to the cyst. These distinct characteristics helped us to make a firm in utero diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

Balance of NH3 and behavior of polychlorinated dioxins and furans in the course of the selective non-catalytic reduction of nitric oxide at the TAMARA waste incineration plant

Investigations were performed on the selective non-catalytic reduction (SNCR) of nitric oxide (NO) at TAMARA, the pilot-scale waste incineration plant of the Karlsruhe Research Center. Aqueous ammonia (NH₃) was injected into the combustion chamber as reductant. The influence of NH₃ on various inorganic and organic compounds in the flue gas was investigated. The concentrations of NO were reduced by up to about 90% by NH₃ injection. The concentrations of most of the other inorganic and organic compounds, including in particular PCDD and PCDF, did not change significantly.     

The influence of lipid and lifestyle factors upon correlations between highly prevalent organochlorine compounds in patients with exocrine pancreatic cancer

We aimed to analyse the influence of cholesterol and triglycerides, and of tobacco, coffee and alcohol consumption upon correlations between serum concentrations of organochlorine compounds (OCs) in patients with exocrine pancreatic cancer (EPC). Incident cases of EPC diagnosed in eastern Spain were prospectively identified (N=144). OCs were analysed by high-resolution gas chromatography with electron-capture detection. A strong correlation was observed between hexachlorobenzene (HCB) and beta-hexachlorocyclohexane (beta-HCH) (Spearman's rho=0.758). beta-HCH showed rho>0.4 with p,p'-DDT, p,p'-DDE, PCB138 and PCB153 (all p<0.001). Some correlations among compounds were slightly affected by tobacco, coffee or alcohol consumption. We observed a striking diversity of correlation patterns by strata of cholesterol and triglycerides. Most correlations were higher in the lowest category of triglycerides than in the lowest category of cholesterol. Most coefficients above 0.7 were seen in the lowest category of triglycerides (e.g., OC pairs p,p'-DDT and HCB, p,p'-DDT and beta-HCH, p,p'-DDE and beta-HCH, or HCB and beta-HCH). Correlations among OCs may be stronger when concentrations of triglycerides are low than when they are high. This is compatible with a dilution in the early phases of cancer and with a concentration effect as triglycerides become lower in the advanced phases of the disease.     

The multifunctional pygidial gland secretion of the Steninae (Coleoptera: staphylinidae): ecological significance and evolution

The pygidial gland secretion of the rove beetle genera Stenus Latreille and Dianous Leach is composed of pyridine and piperidine-derived alkaloids and several terpene compounds. Two-choice bioassays with ants and fish, as well as agar diffusion assays, revealed that the secretion compounds are capable of deterring predators and protecting the beetles from infestation with microorganisms. In addition, the beetles use the secretion for rapid movements on the water surface, a process called skimming. Thus, originally developed to chemically defend the sensitive unprotected abdomen from predator attacks, the secretion of recent Steninae can be designated as multifunctional. Four of the alkaloid compounds occur as different configurational isomers in the secretion. Two-choice tests showed that ants discriminate between stereoisomers of stenusine, while there was no effect visible on bacteria in agar diffusion assays. Furthermore, there are evolutionary trends within the Steninae concerning the secretion composition, as some of the alkaloids primarily occur in phylogenetically basal species, while others are mainly restricted to derived species.     

The anti-predator behaviour of wild white-handed gibbons (<Emphasis Type="Italic">Hylobates lar</Emphasis>)

Predation on gibbons is rarely observed in the wild. However, the gibbons' moderate body size and relatively small social groups suggest high vulnerability to predation. To assess the role of predation and to study their anti-predator behaviour, we presented visual predator models to nine groups of wild white-handed gibbons at Khao Yai National Park, Thailand. We measured subjects' immediate and delayed responses to four potential predators: tiger, clouded leopard, crested serpent eagle and reticulated python. Subjects reliably approached all four predators. In response to tigers and leopards, they additionally produced predator-specific songs and defecated copiously. In terms of delayed responses, distance between mated adults decreased, but only after exposure to the tiger model. In response to eagles and pythons, gibbons consistently vocalised, but this did not always include predator singing, and we found no long-term effects in overall activity or strata use. However, during 6 of 26 predator encounters, the gibbons produced songs with a structure that was intermediate between a duet song and a predator song more than 20 min after the predator encounter, indicating a long-term effect on their vocal behaviour. This study demonstrates that gibbons discriminate between different potential predators and respond to them with adaptive anti-predator behaviour, which include predator-specific vocal responses. We conclude that gibbons are not immune to predation and that terrestrial predators elicit consistent immediate and delayed anti-predation responses.     

The influence of subordinate age on managerial actions: An attributional analysis

The present research examined the effects of employee age on managers attributions and actions toward subordinates. The major prediction was that managers attributions would mediate the effects of age on managerial actions. One-hundred and twenty-four undergraduate management students participated in a laboratory experiment in which subordinate age (30 versus 60 years) and performance (high versus low) were manipulated. A laboratory study was conducted so that subordinate credentials and performance levels could be controlled. Analyses indicated that poor performance by older subordinates was attributed more to stable factors than similar performance by younger subordinates. In addition, job simplification was rated as more appropriate and training was recommended as less appropriate for older subordinates. A series of hierarchical regression analyses indicated that the differences in managerial actions were a function of subjects' attributional patterns. Implications of the findings for practice and future research are discussed.