Applying semantic web technologies to knowledge sharing in aerospace engineering

This paper details an integrated methodology to optimise Knowledge reuse and sharing, illustrated with a use case in the aeronautics domain. It uses Ontologies as a central modelling strategy for the Capture of Knowledge from legacy docu-ments via automated means, or directly in systems interfacing with Knowledge workers, via user-defined, web-based forms. The domain ontologies used for Knowledge Capture also guide the retrieval of the Knowledge extracted from the data using a Semantic Search System that provides support for multiple modalities during search. This approach has been applied and evaluated successfully within the aerospace domain, and is currently being extended for use in other domains on an increasingly large scale

Transport properties of dense fluid argon

We calculate using molecular dynamics simulations the transport properties of realistically modeled fluid argon at pressures up to $\simeq 50GPa$ and temperatures up to $3000K$. In this context we provide a critique of some newer theoretical predictions for the diffusion coefficients of liquids and a discussion of the Enskog theory relevance under two different adaptations: modified Enskog theory (MET) and effective diameter Enskog theory. We also analyze a number of experimental data for the thermal conductivity of monoatomic and small diatomic dense fluids.Comment: 8 pages, 6 figure

Which mechanism underlies the water-like anomalies in core-softened potentials?

Using molecular dynamics simulations we investigate the thermodynamic of particles interacting with a continuous and a discrete versions of a core-softened (CS) intermolecular potential composed by a repulsive shoulder. Dynamic and structural properties are also analyzed by the simulations. We show that in the continuous version of the CS potential the density at constant pressure has a maximum for a certain temperature. Similarly the diffusion constant, $D$, at a constant temperature has a maximum at a density $\rho_{\mathrm{max}}$ and a minimum at a density $\rho_{\mathrm{min}}<\rho_{\mathrm{max}}$, and structural properties are also anomalous. For the discrete CS potential none of these anomalies are observed. The absence of anomalies in the discrete case and its presence in the continuous CS potential are discussed in the framework of the excess entropy.Comment: 8 page

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia

Background: OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson-Golabi-Behmel syndrome type 2 (SGBS2), and retinitis pigmentosa. Recently, OFD1 pathogenic variants have been implicated in primary ciliary dyskinesia (PCD), a disorder of the motile cilia with a phenotype that includes recurrent oto-sino-pulmonary infections, situs abnormalities, and decreased fertility. Methods: We describe three male patients with PCD who were found to have hemizygous pathogenic variants in OFD1, further supporting that PCD is part of a clinical spectrum of OFD1-related disorders. In addition, we provide a review of the available clinical literature describing patients with OFD1 variants and highlight the phenotypic variability of OFD1-related disease. Results: Some individuals with hemizygous OFD1 variants have PCD, either apparently isolated or in combination with other features of OFD1-related disorders. Conclusion: As clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae

The Extended Coupled Cluster Treatment of Correlations in Quantum Magnets

The spin-half XXZ model on the linear chain and the square lattice are examined with the extended coupled cluster method (ECCM) of quantum many-body theory. We are able to describe both the Ising-Heisenberg phase and the XY-Heisenberg phase, starting from known wave functions in the Ising limit and at the phase transition point between the XY-Heisenberg and ferromagnetic phases, respectively, and by systematically incorporating correlations on top of them. The ECCM yields good numerical results via a diagrammatic approach, which makes the numerical implementation of higher-order truncation schemes feasible. In particular, the best non-extrapolated coupled cluster result for the sublattice magnetization is obtained, which indicates the employment of an improved wave function. Furthermore, the ECCM finds the expected qualitatively different behaviours of the linear chain and the square lattice cases.Comment: 22 pages, 3 tables, and 15 figure

Primary ciliary dyskinesia: Longitudinal study of lung disease by ultrastructure defect and genotype

Rationale: In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood. Objectives: To describe early lung disease progression in primary ciliary dyskinesia and identify associations between ultrastructural defects and genotypes with clinical phenotype. Methods: This was a prospective, longitudinal (5 yr), multicenter, observational study. Inclusion criteria were less than 19 years at enrollment and greater than or equal to two annual study visits. Linear mixed effects models including random slope and random intercept were used to evaluate longitudinal associations between the ciliary defect group (or genotype group) and clinical features (percent predicted FEV 1 and weight and height z-scores). Measurements and Main Results: A total of 137 participants completed 732 visits. The group with absent inner dynein arm, central apparatus defects, and microtubular disorganization (IDA/CA/MTD) (n = 41) were significantly younger at diagnosis and in mixed effects models had significantly lower percent predicted FEV 1 and weight and height z-scores than the isolated outer dynein arm defect (n = 55) group. Participants with CCDC39 or CCDC40 mutations (n = 34) had lower percent predicted FEV 1 and weight and height z-scores than those with DNAH5 mutations (n = 36). For the entire cohort, percent predicted FEV 1 decline was heterogeneous with a mean (SE) decline of 0.57 (0.25) percent predicted/yr. Rate of decline was different from zero only in the IDA/MTD/CA group (mean [SE], 21.11 [0.48] percent predicted/yr; P = 0.02). Conclusions: Participants with IDA/MTD/CA defects, which included individuals with CCDC39 or CCDC40 mutations, had worse lung function and growth indices compared with those with outer dynein arm defects and DNAH5 mutations, respectively. The only group with a significant lung function decline over time were participants with IDA/MTD/CA defects

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Rationale: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To delineate clinical features of childhood PCD and their associations with ultrastructural defects and genotype. Methods: A total of 118 participants younger than 19 years old with PCD were evaluated prospectively at six centers in North America using standardized procedures for diagnostic testing, spirometry, chest computed tomography, respiratory cultures, and clinical phenotyping. Measurements and Main Results: Clinical features included neonatal respiratory distress (82%), chronic cough (99%), and chronic nasal congestion (97%). There were no differences in clinical features or respiratory pathogens in subjects with outer dynein arm (ODA) defects (ODA alone; n = 54) and ODA plus inner dynein arm (IDA) defects (ODA 1 IDA; n = 18) versus subjects with IDA and central apparatus defects with microtubular disorganization (IDA/ CA/MTD; n = 40). Median FEV 1 was worse in the IDA/CA/MTD group (72% predicted) versus the combined ODA groups (92% predicted; P = 0.003). Median body mass index was lower in the IDA/ CA/MTD group (46th percentile) versus the ODA groups (70th percentile; P = 0.003). For all 118 subjects, median number of lobes with bronchiectasis was three and alveolar consolidation was two. However, the 5- to 11-year-old IDA/CA/MTD group had more lobes of bronchiectasis (median, 5; P = 0.0008) and consolidation (median, 3; P = 0.0001) compared with the ODA groups (median, 3 and 2, respectively). Similar findings were observed when limited to participants with biallelic mutations. Conclusions: Lung disease was heterogeneous across all ultrastructural and genotype groups, but worse in those with IDA/ CA/MTD ultrastructural defects, most of whom had biallelic mutations in CCDC39 or CCDC40

First-order formalism for dark energy and dust

This work deals with first-order formalism for dark energy and dust in standard cosmology, for models described by real scalar field in the presence of dust in spatially flat space. The field dynamics may be standard or tachyonic, and we show how the equations of motion can be solved by first-order differential equations. We investigate a model to illustrate how the dustlike matter may affect the cosmic evolution using this framework.Comment: 5 pages, 1 figure; title changed, new author included, discussions extended, references added, version to appear in EPJ

Unitarity and Interfering Resonances in pipi Scattering and in Pion Production piN->pipiN

Additivity of Breit-Wigner phases has been proposed to describe interfering resonances in partial waves in $\pi\pi$ scattering. This assumption leads to an expression for partial wave amplitudes that involves products of Breit-Wigner amplitudes. We show that this expression is equivalent to a coherent sum of Breit-Wigner amplitudes with specific complex coefficients which depend on the resonance parameters of all contributing resonances. We use analyticity of $\pi\pi$ partial wave amplitudes to show that they must have the form of a coherent sum of Breit-Wigner amplitudes with complex coefficients and a complex coherent background. The assumption of additivity of Breit-Wigner phases restricts the partial waves to analytical functions with very specific form of residues of Breit-Wigner poles. We argue that the general form provided by the analyticity is more appropriate in fits to data to determine resonance parameters. The partial wave unitarity can be imposed using the modern methods of constrained optimization. We discuss unitarity and the production amplitudes in $\pi N\to\pi\pi N$ and use analyticity in the dipion mass variable to justify the common practice of writing the production amplitudes as a coherent sum of Breit-Wigner amplitudes with free complex coefficients and a complex coherent background in fits to mass spectra with interfering resonances.Comment: 31 page

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia

Rationale: Several studies suggest that nasal nitric oxide (nNO) measurement could be a test for primary ciliary dyskinesia (PCD), but the procedure and interpretation have not been standardized. Objectives: Touse a standard protocol formeasuringnNOtoestablishadiseasespecific cutoff value at one site, and then validate at six other sites. Methods: At the lead site, nNO was prospectively measured in individuals later confirmed to have PCD by ciliary ultrastructural defects (n = 143) or DNAH11 mutations (n = 6); and in 78 healthy and 146 disease control subjects, including individuals with asthma (n = 37), cystic fibrosis (n = 77), and chronic obstructive pulmonary disease (n = 32). A disease-specific cutoff value was determined, using generalized estimating equations (GEEs). Six other sites prospectively measured nNO in 155 consecutive individuals enrolled for evaluation for possible PCD. Measurements and Main Results: At the lead site, nNO values in PCD (mean6standard deviation, 20.7624.1 nl/min; range, 1.5-207.3 nl/min) only rarely overlapped with the nNO values of healthy control subjects (304.6 6 118.8; 125.5-867.0 nl/min), asthma (267.8 6 103.2; 125.0-589.7 nl/min), or chronic obstructive pulmonary disease (223.7 6 87.1; 109.7-449.1 nl/min); however, therewas overlapwith cystic fibrosis (134.0673.5; 15.6-386.1 nl/min). The disease-specific nNOcutoff valuewas defined at 77 nl/minute (sensitivity, 0.98; specificity, .0.999). At six other sites, this cutoff identified 70 of the 71 (98.6%) participants with confirmed PCD. Conclusions: Using a standardized protocol in multicenter studies, nNO measurement accurately identifies individuals with PCD, and supports its usefulness as a test to support the clinical diagnosis of PCD