bluuebunny/crossref_metadata_2025 huggingface dataset:
Cause-and-effect study of the structural failure of the historic complex of the St. Anna‘s Church in Warsaw
Authors: Chmielewski Ryszard , Kruszka Leopold
Published: July 2019

Repairs of historic buildings require the selection of such the design solutions to achieve the intended effects while ensuring the effectiveness of these repairs. This is particularly important in case of the structural failures of these facilities. Most of the conservation recommendations for renovations of cultural heritage buildings and monuments in Poland concern the preservation of the original building material, construction as well as the shape and appearance of the repaired facility [1]. The basic tasks for the designer who specifies the scope, methods and technology of the repair works is to ensure the building‘s safety of use and safety of its users while maintaining the conservation recommendations. The technical failure of the observation tower of the St. Anna’s Church, which took place after a relatively short period of time from the major overhaul of this facility, is presented in this paper. The scope of expert and design works as well as the scope for the contractor of the repair works, that are necessary to select the proper technological solutions for this case, are given. The diagnostics of the building carried out by the authors of the article allowed to properly determine the degree of damage. This ensured the suitable selection of the design solution and further replacement of the damaged cornice of the supporting structure of this historic church.
Contractor errors as the cause of emergency conditions of a timber roof rafter framing
Authors: Dybeł Piotr , Jaskowska-Lemańska Justyna , Kucharska Milena
Published: July 2019

The paper presents results of an analysis conducted in order to determine a cause of an emergency state of a timber roof rafter framing of a central nave ceiling in a church. The article showed an assessment of the current technical conditions, a description of the diagnostic tests performed and the results of the static strength analysis. Based on that information, the causes of this emergency state are described as the consequence of contractor’s errors during the execution and significant derogations from the construction design. Moreover, an implementation of a repair programme in order to restore the full value in use of the building is recommended.
Leakproofness of the reinforced concrete tank for water with a capacity of 45000 m3
Authors: Maciej Y. Minch , Kmita Andrzej
Published: July 2019

The clean water tank discussed consists of four reinforced concrete tanks. The structure is symmetrical for each of the tank pairs, which consist of two storage tanks and two water transfer tanks for the water supply network. All chambers are technologically connected with each other. The tanks are partially recessed in the ground, monolithic, and completely roofed. The projection of chambers within external walls is 96 x 96 m = 9,216 m2. The total capacity of internal chambers and external chambers is about 45,000 m3. The clean water tank was made as a reinforced concrete structure, monolithic. The owner of the facility observed significant losses of stored water, which translated into large financial losses of the company. In order to determine the current technical condition of the reservoir and the causes of its leakage, a comprehensive, multi-level analysis was carried out in terms of strength, stability and durability of the structure. A few dozens of samples were taken at random, and the compressive strength of the concrete, modulus of longitudinal deformation and degree of carbonatization were evaluated. For the assessment of the technical condition of the expansion joints, boreholes were also drilled through them. On the basis of the results obtained from the tests, numerical analysis of the stress on the structure and its deformations was performed in order to select the most stressed areas as well as to assess expansion deformations as potential spots of the largest leaks. The results of the analysis were used to prepare the concept of sealing repairs of the tank chambers.
The on-site example of influence of selected factors on the quality of monolithic reinforced concrete elements
Authors: Owczarska Kamila , Szmigiera Elżbieta , Woyciechowski Piotr
Published: July 2019

The subject of the article is the analysis of the influence of factors related to the course of concreting on the quality of the reinforced concrete element. The problem was discussed on the example of columns with an unusual narrow cross-section (18x80 cm). The characteristics of the surface defects of tested columns are presented and their causes are discussed. The basis of discussion were observations and in-situ tests of concrete mix performed during concreting similar elements in similar conditions. The potential effects of defects in terms of component durability were also considered.
Modelling failure pressure of pipeline composite repair design using finite element analysis incorporating putty’s contribution
Authors: Jiang Xiaoxia , Sim Yu Ling , Doh Shu Ing , Chin Siew Choo , Lim Kar Sing
Published: July 2019

A composite repair system which consists of Fibre Reinforced Polymer (FRP) and putty as infill material has been proven effective in repairing pipeline system as it can structurally reinforce the damaged steel pipes and potentially prevent external corrosion. However, previous studies including the design codes are neglecting the contribution of putty as they assume putty is only functioned to fill the corroded section. A recent study has pointed out that putty is not only limited to transfer the load, but it can serve as a load bearing component. Thus, the purpose of this research is to model the contribution of putty in terms of load bearing capacity through finite element analysis (FEA) and mathematical modelling. Two finite elements models were utilized to study the performance of two different material properties of putties used to repair externally corroded pipeline followed by regression analysis. It was found that by incorporating the strength contribution of putty, there are potential to increase the burst pressure by about 5%. The finding of this research is significant as it can serve as a stepping stone towards design optimization of pipeline rehabilitation.
The TLS technique as a way of identification and measurement of damaged elements of a historic sacral building
Authors: Pawłowicz Joanna A.
Published: July 2019

3D terrestrial laser scanning (TLS) is a modern measurement technique which enables to obtain a large amount of data in short time. The gathered data is very detailed, thus the scope of its use is vast. Therefore scanners other measurement devices which results in considerable acceleration of stock-taking work. This approach enables to prepare a documentation of a building or to make an assessment of its technical condition using only a 3D cloud of points. Additionally, flexibility of data and advanced computer programmes make it possible to use such data in many sectors, not only in the building trade. The paper shows the issue of using a 3D terrestrial laser scanner ant the TLS (Terrestrial Laser Scanning) technique for identification and measurement of damaged elements on the example of a historical sacral building.
Deviation inequalities for Banach space valued martingales differences sequences and random fields
Authors: Giraudo Davide
Published: July 2019

We establish deviation inequalities for the maxima of partial sums of a martingale differences sequence, and of an orthomartingale differences random field. These inequalities can be used to give rates for linear regression and the law of large numbers.
Orthotic Care Based on the Ferrari Concept for Children and Adults with Meningomyelocele
Authors: Schmid Tim , Strehl Elisabeth , Trollmann Regina , Forst Raimund , Fujak Albert
Published: July 2019

Background Even today, myelomeningocele (MMC) is still encountered in clinical medicine and its incidence has not decreased over the last 20 years despite a known reduction in risk due to the use of folic acid supplements. The spectrum of clinical symptoms is extremely broad and, depending on the level of the defect, varies from mild to severe. Subject to the degree of paralysis, patients are reliant on the use of orthopaedic aids and orthoses for the treatment of primary contractures and deformities and the prevention of secondary ones. This forms the basis for attaining or maintaining mobility in many patients. The objective of the study was to determine the practical application of the proposed Ferrari concept for the provision of orthoses for children and adults.

Patients and Material The retrospective study comprised medical records of 180 patients (97 m) with an average age of 19.44 years (3 – 52 years, SD 9.3) at the time of investigation. The average duration of treatment was 15.34 years (1 – 38 years, SD 8.96). Data relating to deformities of the vertebral column and lower limbs, provision of hydrocephalus shunts and orthoses, and patient mobility was evaluated.

Results Most patients were given systematic treatment with orthoses at an early stage. In 58,9% of cases, it was possible to implement the proposed concept for providing patients with dynamic orthoses, whereby the treatment concept was more difficult to implement with high lumbar lesions than with lower lesions. Moreover, a decrease in the patientsʼ mobility with increasing age was noticeable. Some 42.3% of adult patients were able to walk with marked variations in mobility in relation to the different levels of lesions.

Conclusion Taking into consideration the complexity of both the clinical picture and therefore the provision of orthopaedic devices, the result of the implementation of the proposed orthotic concept can be considered positive. Similarly, early commencement of provision of orthoses and hence the possibility of achieving a positive influence on later mobility can be considered a success. The need for individual concepts and further development in order to increase mobility particularly in the case of patients with thoracic or high lumbar lesions is evident. A more comprehensive provision of information to patients regarding orthotic treatment options and their consequences for prophylaxis and quality of life should be an important component of interdisciplinary long-term patient care.
Coagulation Biomarkers in Women with Recurrent Miscarriage and Polycystic Ovarian Syndrome: Systematic Review and Meta-Analysis
Authors: Cavalcante Marcelo Borges , Sarno Manoel , Cavalcante Candice Torres de Melo Bezerra , Araujo Júnior Edward , Barini Ricardo
Published: July 2019

Introduction Pregnant women with polycystic ovarian syndrome (PCOS) have high risk of pregnancy loss. Pathophysiological mechanisms appear to be associated with obesity, hormonal factors, or blood clotting disorders. Our aim is to perform a systematic review and meta-analysis on the relationship between coagulation disorders and risk of recurrent miscarriage (RM) in patients with PCOS and to identify coagulation biomarkers for this condition.

Material and Methods PubMed and MEDLINE databases were searched for publications in English language. The search terms used included “RM”, “polycystic ovary syndrome”, “coagulation disorders”, and “thrombophilia”. Odds ratios (ORs) and 95% confidence intervals (CIs) for miscarriage in different RM groups (with and without PCOS).

Results A total of 575 publications including the search terms were identified. Six studies were included for qualitative analysis, and five were included for quantitative analysis (meta-analysis). We found no association between RM and inherited thrombophilias in patients with PCOS: (1) Factor V Leiden (OR, 0.74; 95% CI, 0.38 – 1.45; p = 0.38); (2) C677T methylenetetrahydrofolate reductase polymorphism (MTHFR) (OR, 1.01; 95% CI, 0.64 – 1.59; p = 0.97); and (3) A1297C MTHFR polymorphism (OR, 1.08; 95% CI, 0.62 – 1.89; p = 0.77). Other potential biomarkers were identified, with emphasis on plasminogen activator inhibitor type 1.

Conclusion Data available in the current literature revealed that there was no association between RM and inherited thrombophilias in patients with PCOS. RM patients with PCOS have a high risk of thromboembolic events.
Neuropsychologische Prädiktoren für den Erfolg beruflicher Wiedereingliederung
Authors: Watzke Stefan , Brieger Peter
Published: July 2019

Kognitive Leistungseinschränkungen stellen zentrale Erkrankungsmerkmale der Schizophrenie und wichtige Prognosefaktoren für den funktionalen Outcome Betroffener dar. In der beruflichen Rehabilitation werden sie daher als Zielgrößen für Trainings einerseits und als Erfolgsprädiktoren andererseits genutzt. Bei zunehmender Diversifizierung der rehabilitativen Angebote und der angesprochenen Klientel stellt sich die Frage, ob kognitive Defizite zielgruppen- und maßnahmenübergreifend ihre wichtige Funktion beibehalten können.

Eine Durchsicht der Literatur legt nahe, dass die zentralen Aussagen zu prognostischer Validität und Adressierbarkeit mittels kognitiver Trainings auf Patienten mit affektiven Störungen grundsätzlich ausgeweitet werden kann. Für Rehabilitanden anderer diagnostischer Gruppen liegen kaum Studien zur Erfolgsprognose vor. Es muss aber davon ausgegangen werden, dass bei nur geringen kognitiven Beeinträchtigungen andere Merkmale – z. B. Angst, Metakognitionen und Fähigkeiten der sozialen Kognition – zur Prognoseabschätzung herangezogen werden müssen.
Gefährdungsbeurteilung psychischer Belastung am Arbeitsplatz – (k)ein Thema für Krankenhäuser?
Authors: Parchmann Anna-Mareike , Hamann Johannes , Kissling Werner
Published: July 2019

Einleitung: Im Arbeitsschutzgesetz wurde 2013 explizit der Begriff „Psychische Belastung“ den möglichen Gefährdungen der Gesundheit, hinzugefügt, die der Arbeitgeber im Rahmen einer Gefährdungsbeurteilung erfassen muss. Mitarbeiter im Krankenhaus sind besonderen psychischen Belastungen ausgesetzt.

Methode: Es wurde eine narrative thematische Analyse durchgeführt.

Ergebnisse: Eine Gefährdungsbeurteilung psychischer Belastungen am Arbeitsplatz findet in Deutschland selten statt, sowohl auf dem allgemeinen Arbeitsmarkt als auch im Krankenhaus. Gründe für die seltene Durchführung sind vor allem fehlende Qualifikation der beteiligten Akteure.

Diskussion: Speziell vor dem Hintergrund der hohen arbeitsbedingten Belastungen von Krankenhausmitarbeitern ist zu hoffen, dass in Zukunft häufiger eine Gefährdungsbeurteilung psychischer Belastung durchgeführt wird.
„Under allen Dornen ist kaum ein lieblicher Gewächs“
Authors: Mayer Johannes Gottfried , Niedenthal Tobias
Published: July 2019

Der Weißdorn widersetzt sich sowohl bei den aktuellen wie auch bei den historischen Aspekten gern einer eindeutigen Beurteilung. Ist er ein Strauch oder doch eher ein Baum? Welche Arten sind medizinisch relevant und welche weniger (in Europa werden wenigstens fünf Arten genutzt)? Hinter welchen Namen und Beschreibungen verbergen sich aktuelle Weißdornarten in den historischen Quellen und welche Anwendungen waren wirklich am Weißdorn erprobt? Für welche Erkrankungen kann Weißdorn heute empfohlen werden?
Computing spectral bounds of the Heisenberg ferromagnet from geometric considerations
Authors: Ouyang Yingkai
Published: July 2019

We give a polynomial-time algorithm for computing upper bounds on some of the smaller energy eigenvalues in a spin-1/2 ferromagnetic Heisenberg model with any graph G for the underlying interactions. An important ingredient is the connection between Heisenberg models and the symmetric products of G. Our algorithms for computing upper bounds are based on generalized diameters of graphs. Computing the upper bounds amounts to solving the minimum assignment problem on G, which has well-known polynomial-time algorithms from the field of combinatorial optimization. We also study the possibility of computing the lower bounds on some of the smaller energy eigenvalues of Heisenberg models. This amounts to estimating the isoperimetric inequalities of the symmetric product of graphs. By using connections with discrete Sobolev inequalities, we show that this can be performed by considering just the vertex-induced subgraphs of G. If our conjecture for a polynomial time approximation algorithm to solve the edge-isoperimetric problem holds, then our proposed method of estimating the energy eigenvalues via approximating the edge-isoperimetric properties of vertex-induced subgraphs will yield a polynomial time algorithm for estimating the smaller energy eigenvalues of the Heisenberg ferromagnet.
10.6 μm heterodyne receiver based on a superconducting hot-electron bolometer mixer and a quantum cascade laser
Authors: Ren Yuan , Zhang DaiXi , Zhou KangMin , Miao Wei , Zhang Wen , Shi ShengCai , Seleznev Vitaly , Pentin Ivan , Vakhtomin Yury , Smirnov Konstantin
Published: July 2019

We report on the development of a heterodyne receiver at mid-infrared wavelength for high-resolution spectroscopy applications. The receiver employs a superconducting NbN hot electron bolometer as a mixer and a room temperature distributed feedback quantum cascade laser operating at 10.6 μm (28.2 THz) as a local oscillator. The stabilization of the heterodyne receiver has been achieved using a feedback loop controlling the output power of the laser. Improved Allan variance times as well as a double sideband receiver noise temperature of 5000 K and a noise bandwidth of 2.8 GHz of the receiver system are demonstrated.
Electrically thin metasurface for broadband transmission enhancement by manipulating the amplitude and phase of the reflection coefficients
Authors: Hao Tong , Zheng Wuan , Wang Wenqin , Zhou Yukun , Bai Jie , Lin Kaiqiang , Yu Zhouwei
Published: July 2019

We present a broadband and electrically thin antireflective metasurface for enhanced electromagnetic transmission in the low gigahertz range. In this design, an electrically thin sandwich structure (∼λ/8) is proposed and studied numerically and experimentally. The destructive interference theory is used to elucidate the designing principle, and by simply tailoring the structural geometrical parameters, the interference conditions at two resonator-spacer interfaces can be tuned to satisfy over a broad frequency range. Measurement results show that transmittance is higher than 85% over a range with a relative bandwidth of 32%, reaching 95% at the maximum, comparing with the transmittance of 65% if no such metasurface is in place. A corresponding low reflectance can also be achieved over a wide range of incidence angles for transverse electric and transverse magnetic polarizations. More importantly, we find that this type of antireflective transmission enhancement is insensitive to the choice of resonators as long as the “spacer-substrate” interface is coated by split ring resonators. It thereby eases the design for a variety of transmission enhancement applications such as nondestructive testing applications and ultrathin detectors in the future.
Nanoscale thermal transport in amorphous and crystalline GeTe thin-films
Authors: Warzoha Ronald J. , Donovan Brian F. , Vu Nicholas T. , Champlain James G. , Mack Shawn , Ruppalt Laura B.
Published: July 2019

We use frequency-domain thermoreflectance to determine the predominant phonon scattering mechanisms in thin films of GeTe. Thickness-dependent thermal conductivity is measured at room temperature to determine an effective mean free path for heat energy carriers in both amorphous and polycrystalline GeTe thin films and to subsequently compare intrinsic defect scattering with the magnitude of boundary scattering that occurs due to nanostructuring. Similarities in the effective mean free paths of amorphous and polycrystalline GeTe suggest that the crystalline alloy's microstructure results in a magnitude of intrinsic scattering between phonons comparable to that experienced by the amorphous phase. Variability in thermal conductivity between phases at comparable thicknesses is attributed to differences in volumetric heat capacity and phonon group velocity. These results are critical for the design of next-generation nanophotonic and optoelectronic devices that utilize nanostructured chalcogenide glasses.
Neutron diffraction study on martensitic transformation under compressive stress in an ordered Fe3Pt
Authors: Fukuda Takashi , Yamaguchi Takashi , Kakeshita Tomoyuki , Harjo Stefanus , Nakamoto Tatsushi
Published: July 2019

We have studied the structure change of an ordered Fe3Pt (degree of order ∼0.75) under a compressive stress applied in the [001] direction by neutron diffraction. In the absence of the stress, the alloy exhibits a weak first order martensitic transformation at 90 K from the L12-type cubic structure to the L60-type tetragonal structure. Under the compressive stress of 100 MPa, the first order nature of the thermally-induced martensitic transformation was undetectable in the temperature range of between 70 K and 270 K. The first order nature of the stress-induced martensitic transformation was also undetectable in the stress range of between 6 MPa and 300 MPa when tested at 120 K and higher temperatures. Under these conditions, the lattice parameters change continuously both in the cooling process and in the stress-applying process. Despite the disappearance of the first order nature of martensitic transformation, a significant stress-induced softening of lattice, which is regarded as a precursor phenomenon of martensitic transformation, was observed between 120 K and 265 K but not at 93 K and 295 K.
Accurate and precise dew-point control system based on active pressure control in two-pressure humidity generator
Authors: Ishiwata Naoya , Niwa Tamio , Abe Hisashi
Published: July 2019

We developed an accurate and precise system for controlling dew points by using an active pressure control system in a primary standard humidity generator. By using this system, an adjustment capability to a target value of 0.0008 °C was attained for dew-point generation, compared with the previous value of approximately 0.01 °C. In a two-pressure humidity generator, the drift in the dew point with time owing to a rapid drop in the water level in the presaturator and to fluctuations in atmospheric pressure was greatly suppressed. The standard deviation of the dew point obtained with our dew-point control system was 10 times smaller than the drift observed in the absence of the system. This dew-point control system makes it possible to calibrate humidity sensors at target values with greater efficiency.
Nonequilibrium atomistic molecular dynamics simulation of tubular nanomotor propelled by bubble propulsion
Authors: Man Viet Hoang , Li Mai Suan , Wang Junmei , Derreumaux Philippe , Nguyen Phuong H.
Published: July 2019

We develop a molecular nanoscaled model for tubular motors propelled by bubble propulsion. The motor is modeled by a carbon nanotube, and the bubble is represented by a particle interacting with water by a time-dependent potential. Effects of liquid viscosity, fuel concentration, geometry, and size of the tube on the performance of the motor are effectively encoded into two parameters: time scales of the bubble expansion and bubble formation. Our results are qualitatively consistent with experimental data of much larger motors. Simulations suggest that (i) the displacement of the tube is optimized if two time scales are as short as possible, (ii) the compromise between the performance and fuel consumption is achieved if the bubble formation time is shorter than the velocity correlation time of the tube, (iii) the motor efficiency is higher with slow expansion, short formation of the bubble than fast growth but long formation time, and (iv) the tube is propelled by strong forces on the order of mN, reaching high speeds up to ∼60 m/s. Our simulation may be useful for refining and encouraging future experimental work on nanomotors having the size of a few nanometers. The tiny size and high speed motors could have great potential applications in real life.
A tensorial shear stress sensor based on light-emitting GaN nanopillars
Authors: Sui Jingyang , Chung Kunook , Tian Feng , Ku Pei-Cheng
Published: July 2019

A force sensor capable of detecting both the magnitude and direction of the shear stress is proposed and demonstrated. The structure is based on an array of gallium nitride (GaN) light-emitting nanostructures and an off-the-shelf imager. The directional sensitivity originates from symmetry breaking of the nanostructures. Only a common bias is required for all GaN elements, making two-dimensional mapping of the stress relatively simple. As the stress sensing relies only on differential measurements, no stringent uniformity requirement across the sensor array is necessary.
An evaluation of general practice nurses' knowledge of chronic kidney disease risk factors and screening practices following completion of a case study-based asynchronous e-learning module
Authors: Sinclair Peter M. , Kable Ashley , Levett-Jones Tracy , Holder Carl , Oldmeadow Christopher J.
Published: July 2019

National and international guidelines recommend opportunistic screening for chronic kidney disease to allow for early detection and management. Despite these guidelines, screening for chronic kidney disease in general practice settings is often suboptimal. This paper reports the results of a study that evaluated: (a) the effect of an asynchronous web-based e-learning module on general practice nurses’ knowledge about chronic kidney disease risk factors and screening practices; and (b) general practice nurses’ perceived satisfaction with the e-learning module. Changes in chronic kidney disease knowledge were assessed using a pre-test and post-test evaluative design, and satisfaction scores were measured on completion of the module. Participants’ baseline knowledge scores were poor, with mean pre-test scores of 3.77 (s.d. 1.66) out of 10. Post-test scores revealed a significant improvement (mean difference 1.81, (95% CI: 1.53 – 2.09), P < 0.01); however, overall final scores remained inadequate. Participants highly rated their satisfaction with the design of the module. Our results suggest that an asynchronous web-based e-learning module can improve general practice nurses’ knowledge about chronic kidney disease risk factors and screening practice. Efforts are required to increase practice nurses’ access to educational opportunities designed to improve knowledge in this area with the aim of increasing opportunistic screening for chronic kidney disease in the general practice setting.
Protein synthesis rates and ribosome occupancies reveal determinants of translation elongation rates
Authors: Riba Andrea , Di Nanni Noemi , Mittal Nitish , Arhné Erik , Schmidt Alexander , Zavolan Mihaela
Published: July 2019

Although protein synthesis dynamics has been studied both with theoretical models and by profiling ribosome footprints, the determinants of ribosome flux along open reading frames (ORFs) are not fully understood. Combining measurements of protein synthesis rate with ribosome footprinting data, we here inferred translation initiation and elongation rates for over a 1,000 ORFs in exponentially growing wild-type yeast cells. We found that the amino acid composition of synthesized proteins is as important a determinant of translation elongation rate as parameters related to codon and transfer RNA (tRNA) adaptation. We did not find evidence of ribosome collisions curbing the protein output of yeast transcripts, either in high translation conditions associated with exponential growth, or in strains in which deletion of individual ribosomal protein (RP) genes leads to globally increased or decreased translation. Slow translation elongation is characteristic of RP-encoding transcripts, which have markedly lower protein output compared with other transcripts with equally high ribosome densities.
Homeorhesis and ecological succession quantified in synthetic microbial ecosystems
Authors: Chuang John S. , Frentz Zak , Leibler Stanislas
Published: July 2019

The dynamics of ecological change following a major perturbation, known as succession, are influenced by random processes. Direct quantitation of the degree of contingency in succession requires chronological study of replicate ecosystems. We previously found that population dynamics in carefully controlled, replicated synthetic microbial ecosystems were strongly deterministic over several months. Here, we present simplified, two-species microbial ecosystems consisting of algae and ciliates, imaged in toto at single-cell resolution with fluorescence microscopy over a period of 1 to 2 weeks. To directly study succession in these ecosystems, we deliberately varied the initial cell abundances over replicates and quantified the ensuing dynamics. The distribution of abundance trajectories rapidly converged to a nearly deterministic path, with small fluctuations, despite variations in initial conditions, environmental perturbations, and intrinsic noise, indicative of homeorhesis. Homeorhesis was also observed for certain phenotypic variables, such as partitioning of the ciliates into distinct size classes and clumping of the algae. Although the mechanism of homeorhesis observed in these synthetic ecosystems remains to be elucidated, it is clear that it must emerge from the ways each species controls its own internal states, with respect to a diverse set of environmental conditions and ecological interactions.
Mutations in
TFAP2B
and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis
Authors: Timberlake Andrew T. , Jin Sheng Chih , Nelson-Williams Carol , Wu Robin , Furey Charuta G. , Islam Barira , Haider Shozeb , Loring Erin , Galm Amy ,   Yale Center for Genome Analysis, Steinbacher Derek M. , Larysz Dawid , Staffenberg David A. , Flores Roberto L. , Rodriguez Eduardo D. , Boggon Titus J. , Persing John A. , Lifton Richard P. , Lifton Richard P. , Gunel Murat , Mane Shrikant , Bilguvar Kaya , Gerstein Mark , Loring Erin , Nelson-Williams Carol , Lopez Francesc , Knight Jim
Published: July 2019

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (
P
= 4.0 × 10
−8
); additionally, a rare damaging mutation in
SOX11
, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in
TFAP2B
, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (
P
= 8.2 × 10
−12
). Three probands had rare damaging mutations in
GLI2
,
SOX11
, or
GPC4
, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier
KAT6A
, and
CTNNA1
, encoding catenin α-1. These findings establish
TFAP2B
as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.
Microfluidic protein isolation and sample preparation for high-resolution cryo-EM
Authors: Schmidli Claudio , Albiez Stefan , Rima Luca , Righetto Ricardo , Mohammed Inayatulla , Oliva Paolo , Kovacik Lubomir , Stahlberg Henning , Braun Thomas
Published: July 2019

High-resolution structural information is essential to understand protein function. Protein-structure determination needs a considerable amount of protein, which can be challenging to produce, often involving harsh and lengthy procedures. In contrast, the several thousand to a few million protein particles required for structure determination by cryogenic electron microscopy (cryo-EM) can be provided by miniaturized systems. Here, we present a microfluidic method for the rapid isolation of a target protein and its direct preparation for cryo-EM. Less than 1 μL of cell lysate is required as starting material to solve the atomic structure of the untagged, endogenous human 20S proteasome. Our work paves the way for high-throughput structure determination of proteins from minimal amounts of cell lysate and opens more opportunities for the isolation of sensitive, endogenous protein complexes.
Differential object marking and object scrambling in the Guaraní
language cluster
Authors: Roessler Eva-Maria
Published: July 2019

The parallel data discussed in this article suggest that in
Guaraní languages differential objects seem far from being exclusively
highlighted in morphology. Instead, the Guaraní dom systems exhibit a
differential treatment of certain direct objects within narrow syntax. Focusing
on [+animate] direct objects, I supply evidence that [+dom] direct
objects scramble out of their base position into a higher,
vP-internal, projection, namely αP (following López 2012). This
short DO scrambling is derived including data from simple
transitive, ditransitive, and applicative constructions as well as from object
conjunction. The short scrambling within vP is followed by
further direct object dislocation into a higher functional domain, an operation
described in literature as triggered by φ-feature under T° and targeting a
specifier in an expanded functional domain (Freitas 2011b). DOs that move out of their base position may be marked with the overt case marker, homophonous with dat case. The homophony between dat and dom is conceived as morphological opacity in the Guaraní case. Syntactically, however, [+dom] DOs pattern together with their zero-marked acc counterparts, rather than
with indirect objects.
dom as a syntax-pragmatics interface marker
Authors: Khouja Marta
Published: July 2019

Building on the display ofdomin Catalan and focusing on the Balearic variety, this paper explores this phenomenon arguing for a discourse-driven marking, showing that the assumption that semantic hierarchies as crucial triggers fordomcannot be assumed anymore. We aim to present some ideas to address the correlation between prepositional markings and peripheral positions and to provide arguments for a syntax-pragmatics approach todomin Clitic Dislocation. Our data shed light on the link between information structure – in particular, anaphoricity- and marked objects. This analysis would also account for other markers (i.e.de) available as a mechanism for signalling the same [+anaphoric] feature.
Individual and institutional influences on EU labour market returns to education: a comparison of the effect of the 2008 economic crisis on eight EU countries
Authors: Robert Peter , Saar Ellu , Kazjulja Margarita
Published: July 2019

This paper explores cross-national variations in the impact of education on labour market outcomes using the risk of unemployment and occupational status as the key dependent variables. The study applies a comparative perspective on eight EU countries (three from CEE), representing different relationships between the education system and the labour market with various degrees of inequality, welfare provisions and labour market flexibility. A temporal comparison investigates the influence of the 2008 economic crisis. The study employs data from the European Union Labour Force Survey 2007, 2009 and 2014. Binary and ordinary least squares regressions are the main analytical methods. Models are fitted to the pooled data and interactions are applied to elaborate on country and temporal variations. The analysis reveals the persistence of returns to school investments; the crisis exerts bigger risk and loss for the less educated. However, this impact is markedly shadowed by the institutional variation at the country level. High flexibility and low inequality could provide some defence, while corporatist features and employment protection decreased the crisis effects. Post-communist countries were hit harder but with a characteristic variance: Slovenia was less affected, Estonia recovered the crisis faster and Hungary was affected at most.
Optical study of composite material with nanosized fullerenol inclusions
Authors: Karpunin A E , Pleshakov I V , Proskurina O V , Gerasimov V I , Nechitailov A A , Glebova N V , Varlamov A V , Parfenov M V
Published: July 2019

A composed material in the form of polymer matrix (polyvinyl alcohol) with imbedded nanoparticles of polyhydroxylated fullerene (fullerenol) was studied by optical methods. The host material was selected as a convenient media with such properties as flexibility, optical transparency and water solubility, which was utilized for films fabrication. The samples obtained were investigated by visible and infrared spectroscopy, and also the light scattering was examined at different wavelengths. It was shown that at high concentration of filler it forms clusters with sizes of about tens of nanometers, which is consistent with the data of other works.
2D electron gas density of states at the Fermi level in silicon nanosandwich
Authors: Romanov V V , Bagraev N T , Kozhevnikov V A , Sizykh G K
Published: July 2019

The two-dimensional density of states at the Fermi level for integer filling factors was calculated based on the results of observation of the de Haas-van Alphen effect on a silicon nanostructure at room temperature and according to the equilibrium thermodynamics relations.
Advances in the application of electrohydrodynamic fabrication for tissue engineering
Authors: Gryshkov O , Müller M , Leal-Marin S , Mutsenko V , Suresh S , Kapralova V M , Glasmacher B
Published: July 2019

Tissue engineering and cell-based therapy approaches require artificial scaffolds as extracellular matrix (ECM) and three-dimensional (3D) environment for clinically relevant cells to attach, be metabolically active and proliferate. Moreover, these constructs must possess mechanical and physical-chemical properties matched with certain implantation site. If all the required conditions are met, a tissue-engineered construct is considered as functional and will regenerate or replace the damaged tissue after implantation. In this work, we give a short overview of so-called electrohydrodynamic approach (EHD), e.g. with an application of electric field, to fabricate nano- and microstructured porous polymeric networks. This includes the application of electrospinning (networks) and electrospraying (micro- and macrospheres) to produce scaffolds and semipermeable hydrogel structures as a basis for tissue engineering and cell-based therapies.
Gas laser energy characteristics with different active element cross section geometry
Authors: Kozhevnikov V A , Privalov V E , Shemanin V G
Published: July 2019

The models for estimating the contribution of the cross section geometry to the active medium gain of the gas laser have been considered. A testing of our method for the solving of the Helmholtz equation with different boundary conditions have been fulfilled. The next step is the complication of the model taking into account the distribution of the field intensity in the resonator.
Computer simulation of the fiber optic electric field sensor
Authors: Temkina V , Medvedev A , Mayzel A
Published: July 2019

The article describes an approach for simulating the fiber optic electric field sensor with a sensitive element operating on the Pockels effect arising in an optical waveguide recorded in a lithium niobate crystal. The sensor simulating was implemented in the NI LabVIEW programming environment and built using a mathematical apparatus based on the formalism of Jones matrices, which allowed to describe the polarization state of the light beam at the output of the sensor and to calculate the intensity of the interference signal at the photodetector input. Besides, additional modulation with a sawtooth signal and digital phase detection were used in the simulation. The sensor model described in the article can be easily modified and complicated, which makes it possible to use it for research and analysis of both parasitic effects and different optical sensor configurations.
Device for wideband ratio pyrometry
Authors: Kneschaurek E V , Pavlov A V , Rjabow R W , Ustinov A B
Published: July 2019

In this article we present procedures of creation, verification, and application of a device for contactless measurement of object’s temperature in vacuum. In contrast to conventional dual-wavelength pyrometers, it does not rely on spectral filtering and makes use of the intrinsic bandwidth parameters of photodetectors. In theory the device is capable of measuring values of temperature ranging from room temperature to several thousands kelvins. The verification was performed using a reference thermometer. Also, in-field measurements of the sample’s temperature in vacuum were conducted, which show efficiency of the proposed system.
Infrared versus white light sources for polarimetric imaging setup
Authors: Putintseva M V , Nepomnyashchaya E K
Published: July 2019

The results of the experimental investigation of polarized backscattered light from a biological tissue using cross-polarization imaging technique are presented. A new approach for detecting different morphological abnormalities of the cutaneous structure caused by various diseases and aberrations (pathologies) irradiating the exact sector of the object under study with incoherent infrared light is proposed. The obtained results are compared with results of our previous experiments of illuminating the skin sector with incoherent white light source. Such proposed technique provides the possibility to get the comprehensive information on the structure of the object containing scar structures and other abnormalities and skin illnesses. This method can be used to develop medical devices that are applicable for diagnosing diseases, which are hardly distinguishable at early stages and for monitoring the patient’s condition.
On approximation and experimental accuracy in dynamic light scattering
Authors: Nepomnyashchaya E K
Published: July 2019

The work is dedicated to estimation of accuracy of calculations in dynamic light scattering experiments, in particular approximation and size determination of nanoparticles in polydisperse solutions. In dynamic light scattering the proper approximation is crucial to final accuracy of sizes calculations, especially if we consider polydisperse solutions, such as biological fluids. Calculated and experimental errors have been compared.
Frictional self-oscillations of the one - two degree of freedom systems
Authors: Chernysheva N V , Platovskikh M J , Vetyukov M M
Published: July 2019

The problem of frictional self-oscillations (FSO) appears for devices and mechanisms, friction units of which operate in conditions of the friction process instability at rather small speeds of slippage. Such oscillations arise at operation of arresting arrangement, friction engagement mechanisms, drilling machines, etc. In the paper, FSO have been analyzed in terms of existence and attraction areas of different conditions on parameter plane both for one- and two-mass models.
Construction of adequate mathematical model of physical object from merit function
Authors: Amosov V V , Petrov A V , Tyshkevich A I
Published: July 2019

Methodology for construction of adequate mathematical model of the object from merit function is proposed. Characteristics which determine degree of acceptability of the model are introduced: acceptable disagreement between modelling results and experimental data, required number of states of the object of study, significance thresholds of independent variables. Software package for construction of adequate mathematical model has been designed which allows us to automate the construction process. Proposed methodology and software package allow for transition to mathematical model with given in advance disagreement between modelling result and experimental data. The degree of acceptability of already existent mathematical models can also be improved.
Finite-element modeling of ferroelectric material behavior at morphotropic phase boundaries between tetragonal, rhombohedric and orthorhombic phases
Authors: Lobanov S M , Semenov A S
Published: July 2019

The nonlinear response of ferroelectric/ferroelastic material below the Curie temperature is analyzed at morphotropic phase boundaries with account of tetragonal, rhombohedric and orthorombic phases. The results are obtained by means of finite-element homogenization with using the micromechanical model taking into account the dissipative nature of the domain wall motion. The results of simulation have revealed the extremal values of spontaneous polarization and remanent strain at morphotropic phase boundaries for the tetragonal/rhombohedral and tetragonal/orthorhombic compositions.
Compact microwave frequency standard on Hg-199 ions for navigation systems
Authors: Lukashev N A , Moroz A V , Davydov V V
Published: July 2019

The design of a magnetic trap for low mass-dimensional microwave frequency standards is presented. The dependencies of the number of photons registered by PMT on magnetic field values are established. The new algorithm for optical processing has been developed. The comparison of experimental Allan deviation for different designs of microwave frequency standards on 199Hg+ ions has been performed.
Role of different scattering orders in the formation of intensity of light scattered by a cold atomic ensemble placed into static electric or magnetic field
Authors: Larionov N V
Published: July 2019

The scattering of light by an optically dense cold atomic ensemble placed into the static electric or magnetic field is studied theoretically. The total intensity of light scattered into the given direction is considered. Analysis of the angular distributions of intensity of light for different scattering orders allows one to understand the formation of the total intensity.
Comparison of orientational error of an optically pumped quantum sensor in on-board equipment of Galileo and GPS satellite systems
Authors: Lozov R K , Baranov A A , Ermak S V , Semenov V V
Published: July 2019

A comparison of the hypothetical orientational shift of the rubidium frequency standards on gas cell used in the on-board equipment of the Galileo and GPS satellites navigation systems is presented. The calculated dependences of the orientational error of the rubidium atomic clock as a function of the time of movement of the Galileo and GPS satellites in orbit are given. The calculated values of the correlation coefficients of the dependences of the orientational shift of the atomic clocks and the experimental data of the temporal dependence of the orientational error of the satellites are presented. There is a significant excess of the correlation coefficients in the GPS satellite system in comparison with the Galileo system. This may be due to the difference in the contribution of the orientational error of atomic clocks to the total error of the satellite ephemeris.
Analytical model of the single emitter laser with modulated coupling constant
Authors: Khachatrian R , Popov E
Published: July 2019

Using the master equation for the density operator of the laser field, we constructed an analytic model of a single emitter laser under a strong atom-field coupling in the non-stationary regime, that is obtained by coupling constant modulation at the defined frequency. The model demonstrated the emergence of a harmonic force, that partially compensates for relaxation processes in the quantum system. The mechanism of force occurrence, is described by changing the coupling constant.
A highly linear 25 MHz bandwidth Gm-C SOI complex filter
Authors: Ivanov N V , Korotkov A S
Published: July 2019

In this paper, a highly linear complex filter in SOI X-FAB 180 nm technology is proposed for 25 MHz bandwidth with 25 MHz center frequency. Third harmonic compensation technique is used for transconductance amplifier design. Reactance transform is used for the filter synthesis. Layout design is discussed. Simulations show THD better than -75 dB @ 25 MHz 1 Vpp for temperature range of -40 to +200 °C.