Prenatal findings on ultrasound and X-ray in a case of overgrowth syndrome associated with increased nuchal translucency

A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gestation is reported. The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non-lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright © 2001 John Wiley & Sons, Ltd.     

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Objective

Conventional genetic tests (quantitative fluorescent-PCR [QF-PCR] and single nucleotide polymorphism-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study, we implemented rES in prenatal care to increase diagnostic yield.

Methods

We prospectively studied 55 fetuses. Inclusion criteria were: (a) two or more independent major fetal anomalies, (b) hydrops fetalis or bilateral renal cysts alone, or (c) one major fetal anomaly and a first-degree relative with the same anomaly. In addition to conventional genetic tests, we performed trio rES analysis using a custom virtual gene panel of ~3850 Online Mendelian Inheritance in Man (OMIM) genes.

Results

We established a genetic rES-based diagnosis in 8 out of 23 fetuses (35%) without QF-PCR or array abnormalities. Diagnoses included MIRAGE (SAMD9), Zellweger (PEX1), Walker-Warburg (POMGNT1), Noonan (PTNP11), Kabuki (KMT2D), and CHARGE (CHD7) syndrome and two cases of Osteogenesis Imperfecta type 2 (COL1A1). In six cases, rES diagnosis aided perinatal management. The median turnaround time was 14 (range 8-20) days.

Conclusion

Implementing rES as a routine test in the prenatal setting is challenging but technically feasible, with a promising diagnostic yield and significant clinical relevance.     

Population dynamics of beech scale (Cryptococcus fagisuga) (Coccina,Pseudococcidae) related to physiological defence reactions of attacked beech trees (Fagus sylvatica)

Summary Changes in the density of beech scale infestation (Cryptococcus fagisuga) of a mature beech stand (Fagus sylvatica) were investigated after gap-cutting in limed and unlimed areas bordering on the gaps and in untreated areas over a 5-year period. Parallelly the concentrations of sucrose, protein amino acids, and procyanidins were examined in the inner and outer bark of non-infested beech trees and beeches infested by beech scale.Irrespective of liming in the areas bordering on the gaps the proportion of beech trees with increasing beech scale infestation was significantly higher, the proportion of beeches with diminishing infestation was significantly lower than in the untreated control areas. Trees with the same infestation tendency occurred in clusters.Physiological defence reactions in the inner and outer bark of the infested beech trees were registrated as an increase in the procyanidin content and a decrease in the protein amino acid content. A change in the outer bark—inner bark—ratio of the infested beech trees showed a transfer of compounds between the inner and outer bark. During the period of observation long-lasting shifts occurred in the pattern of compounds of the bark irrespective of actual infestation intensity.     

Assessing the net atmospheric impacts of wood production and utilization

The main objective of the study was to calculate net atmospheric impacts for wood production and utilization in Finnish boreal forest conditions. Net atmospheric impacts were calculated by comparing net CO₂ exchanges of the wood production and utilization to the reference management regime. Net CO₂ exchanges were simulated with a life cycle assessment (LCA) tool for a Scots pine (Pinus sylvestris L.) stand (MT, Myrtillys-type) in central Finland (Joensuu region, 62°39 N, 29°37 E) over two consecutive rotation periods (100?+?100 years/200 years). Net atmospheric impacts were calculated both for sawn timber and pulpwood, and expressed in kgCO₂m^?3. According to the results, the production of pulp and sawn timber produced emissions of 0.20 and 0.59 kgCO₂m^?3 over the 200-year period, respectively, when the unmanagement regime was used as the reference management regime. When 50 % of the processing waste of timber was accounted as an instant emission to the atmosphere, the atmospheric impact increased to 0.55 kgCO₂m^?3 in pulpwood and to 1.27 kgCO₂m^?3 in sawn timber over the 200 year period. When turnover rates of sawn timber in the technosystem were decreased by 30 % and the share of energy use was decreased to 30 %, the atmospheric impact decreased by 17 % and 4 % for pulpwood and sawn timber, respectively, compared to the default wood degradation and energy use of 50 %. The utilized LCA approach provided an effective tool for approaching net atmospheric impacts originating from the ecosystem carbon (C) flows and variable wood utilization. Taking the ecosystem production and utilization of wood (i.e. degradation of technosystem C stock) into account, in terms of net CO₂ exchange, the mitigation possibilities of wood compared to other products can be accounted for more precisely in the future and C sequestration credited more specifically for a certain wood product.     

Modeling of the influence of sample preparation sequences when measuring selectively induced residual stress depth profiles

The selective introduction of compressive residual stresses is gaining increasing importance as design tool in today's manufacturing process chains. Manufacturing processes such as shot peening or hydraulic autofrettage are used to improve the surface integrity, and hence the fatigue life of the components. However, measuring the corresponding residual stress depth profiles is a challenging task as the results will always include the manufacturing and preparation history of the components. In this paper, results of residual stress measurements with X-ray diffraction and optical hole-drilling after autofrettage and sample preparation are presented and compared to a finite element analysis for two representative geometries. The presented approach can be used to predict the influence of the mandatory sample preparation procedure. As a consequence, the effectiveness of the manufacturing process to improve the surface integrity can be predicted more precisely and wrong interpretations of the measured residual stress depth profiles can be avoided.     

Managers’ conceptions regarding human factors in air traffic management and in airport operations

Human factors (HF) in creating and managing safety in complex systems is a continuous topic of research and discussion. In the aviation organisation under study here, an HF expert had started work in a newly created position one and a half years prior to the study. The aim of the study was to find out if HF was seen as a safety creating factor and what the conceptions of HF were in regard to the theoretical developments in the field. These topics were studied in order to determine the most effective means of implementing HF-work within the organisation. Two manager groups (upper and middle management) were targeted as subjects of the study due to their crucial role in developing working culture. Twenty-one managers were interviewed from nine units that represented three operational environments (radar units with heavy traffic, combined civil/military units and procedural air traffic control units, including airport operations. Managers were found to have disjointed and vague conceptions of HF and a lack of shared vision or strategy regarding HF. Some managers lacked an appropriate conception of HF. The present situation can prevent the organisation from utilizing HF competence in maintaining and developing the safety of services. Conceptions were most up-to-date at units, where outside pressures for change had forced managers to take HF issues into account in their operational environments. While the long-term implementation of HF faces considerable challenges, the article gives several proposals for organisational structures that support a more effective realization of HF.     

Designing sustainable and economically attractive brownfield revitalization options using an integrated assessment model

We describe the development of an integrated assessment model which evaluates redevelopment options of large contaminated brownfields and we present the application of the model in a case study. Aiming to support efficient and sustainable revitalization and communication between stakeholders, the presented assessment model integrates three pinnacles of brownfield revitalization: (i) subsurface remediation and site preparation costs, (ii) market-oriented economic appraisal, and (iii) the expected contribution of planned future land use to sustainable community and regional development. For the assessment, focus is set on the early stage of the brownfield redevelopment process, which is characterized by limited data availability and by flexibility in land use planning and development scope. At this stage, revealing the consequences of adjustments and alterations in planning options can foster efficiency in communication between the involved parties and thereby facilitates the brownfield revitalization process. Results from the case-study application indicate that the integrated assessment provides help in the identification of land use options beneficial in both a sustainable and an economical sense. For the study site it is shown on one hand that brownfield redevelopment is not automatically in line with sustainable regional development, and on the other hand it is demonstrated that additional contributions to sustainability are not intrinsically tied to increased costs.