Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

Introduction: Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of metabolic disorders caused by abnormal protein or lpid glycosylation. DPM2 is one subunit of a heterotrimeric complex for dolichol-phosphatemannose synthase (DPMS), a key enzyme in glycosylation, and only four patients with DPM2-CDG have been reported.Methods: Whole-exome sequencing (WES) was performed in a Chinese family having two siblings with a mild form of DPM2-CDG with developmental delay, mild intellectual disability, hypotonia, and increased serum creatine kinase. Sanger sequencing was used to validate the variants identified in the siblings and their parents. In vitro functional study was performed.Results: A homozygous mutation, c.197G>A (p.Gly66Glu) in exon 4 of DPM2 (NM_003863) was identified by whole exome sequencing (WES). In vitro functional analysis demonstrated that this variant increased the expression level of DPM2 protein and western blot revealed a significant decrease in ICAM1, a universal biomarker for hypoglycosylation in patients with CDG, suggesting abnormal N-linked glycosylation. We also reviewed the 4 previously reported patients carrying homozygous or compound heterozygous variants of DMP2 gene, and found that patients with variants within the region encoding the first domain had more severe clinical symptoms than those with variants within the second domain. However, the actual genotype-phenotype relationship needs more study.Discussion: Overall, our study broadens the variant spectrum of DPM2 gene, attempts to explain the different phenotypes in patients with different DPM2 variants, and emphasizes the need of further functional studies to understand the underlying pathophysiology of the phenotypic heterogeneity

¿Herramienta metodológica o metodología? Más allá de la instrumentalidad y la eficiencia con el software de análisis de datos cualitativos

Qualitative Analysesoftware (QAS) erfreut sich einer sehr breiten Nutzung, obwohl die Frage der Effekte von QAS für die Validität qualitativer Analysen kaum diskutiert wird. Dies ist jedoch erforderlich, da die aktuelle Zunahme an Validitätskonzepten die zumeist als selbstverständlich angenommene "neutrale" Beziehung zwischen Validität und QAS mindestens herausfordert, in einiger Hinsicht sogar unterminiert. Mit diesem Artikel stellen wir ein alternatives Konzept zur Bewertung der Beziehung zwischen Validität und Softwarenutzung vor. Indem wir den Blick weg von Fragen der Nützlichkeit und Effizienz von Software und hin zur Forschungspraxis selbst richten, schlagen wir vor, dass qualitativ Forschende einen "reflexiven Zwischenraum" definieren: Dieser ist zwischen dem je gewählten methodologischen Ansatz, der der jeweiligen QAS immanenten Validitätsstruktur und dem spezifischen Forschungskontext angesiedelt, um von hier aus zu reflektierten methodologischen Entscheidungen zu kommen. Wir veranschaulichen dieses Konzept am Beispiel eines kollaborativen Handlungsforschungsprojekts.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1602160Qualitative data analysis software (QDAS) has become increasingly popular among researchers. However, very few discussions have developed regarding the effect of QDAS on the validity of qualitative data analysis. It is a pressing issue, especially because the recent proliferation of conceptualizations of validity has challenged, and to some degree undermined, the taken-for-granted connection between the methodologically neutral understanding of validity and QDAS. This article suggests an alternative framework for examining the relationship between validity and the use of QDAS. Shifting the analytic focus from instrumentality and efficiency of QDAS to the research practice itself, we propose that qualitative researchers should formulate a "reflective space" at the intersection of their methodological approach, the built-in validity structure of QDAS and the specific research context, in order to make deliberative and reflective methodological decisions. We illustrate this new framework through discussion of a collaborative action research project.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1602160El software para análisis de datos cualitativos (SADC) se ha vuelto cada vez más popular entre los investigadores. No obstante, se han desarrollado escasas discusiones relativas al efecto del SADC en la validez del análisis de datos cualitativos. Se trata de una cuestión apremiante, especialmente debido a  que la reciente proliferación de conceptualizaciones de validez ha desafiado, y hasta cierto punto desautorizado, la conexión dada por hecho entre la concepción metodológicamente neutra de validez y SADC. Este artículo sugiere un marco alternativo para examinar la relación entre validez y el uso de SADC. Desplazando el foco analítico desde la instrumentalidad y la eficiencia del SADC a la práctica investigativa en sí misma, proponemos que los investigadores cualitativos deberían generar un "espacio de reflexión" en la intersección entre su enfoque metodológico, la estructura de validez incorporada del SADC y el contexto específico de investigación, con la finalidad de tomar decisiones metodológicas deliberativas y reflexivas. Explicitamos este nuevo marco a través de la discusión de un proyecto de investigación de acción colaborativa.URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs160216

Methodological tool or methodology? Beyond instrumentality and efficiency with qualitative data analysis software

Qualitative data analysis software (QDAS) has become increasingly popular among researchers. However, very few discussions have developed regarding the effect of QDAS on the validity of qualitative data analysis. It is a pressing issue, especially because the recent proliferation of conceptualizations of validity has challenged, and to some degree undermined, the taken-for-granted connection between the methodologically neutral understanding of validity and QDAS. This article suggests an alternative framework for examining the relationship between validity and the use of QDAS. Shifting the analytic focus from instrumentality and efficiency of QDAS to the research practice itself, we propose that qualitative researchers should formulate a "reflective space" at the intersection of their methodological approach, the built-in validity structure of QDAS and the specific research context, in order to make deliberative and reflective methodological decisions. We illustrate this new framework through discussion of a collaborative action research project. (author's abstract)Qualitative Analysesoftware (QAS) erfreut sich einer sehr breiten Nutzung, obwohl die Frage der Effekte von QAS für die Validität qualitativer Analysen kaum diskutiert wird. Dies ist jedoch erforderlich, da die aktuelle Zunahme an Validitätskonzepten die zumeist als selbstverständlich angenommene "neutrale" Beziehung zwischen Validität und QAS mindestens herausfordert, in einiger Hinsicht sogar unterminiert. Mit diesem Artikel stellen wir ein alternatives Konzept zur Bewertung der Beziehung zwischen Validität und Softwarenutzung vor. Indem wir den Blick weg von Fragen der Nützlichkeit und Effizienz von Software und hin zur Forschungspraxis selbst richten, schlagen wir vor, dass qualitativ Forschende einen "reflexiven Zwischenraum" definieren: Dieser ist zwischen dem je gewählten methodologischen Ansatz, der der jeweiligen QAS immanenten Validitätsstruktur und dem spezifischen Forschungskontext angesiedelt, um von hier aus zu reflektierten methodologischen Entscheidungen zu kommen. Wir veranschaulichen dieses Konzept am Beispiel eines kollaborativen Handlungsforschungsprojekts. (Autorenreferat

Reconceptualizing the Link Between Validity and Translation in Qualitative Research: Extending the Conversation Beyond Equivalence

Qualitative researchers often take for granted that the process of translation involves finding in the target language an equivalent linguistic expression to the one used in the source language. The validity of translation in qualitative research is thus based on the equivalence between the original and the translated texts, and correspondingly, uncertainty and differences between the two are treated as threats to validity and trustworthiness. Integrating insights from critical translational theories and Phil Carspecken’s critical reconstructive analysis, we demonstrate that a series of possible meanings always co-exists in the interpretation of a single speech act in both an original text and its translation. These nuanced meanings carry both foregrounded and backgrounded historical, inter-, and intra-cultural references. Through the application of critical reconstructive analyses to original and translated texts, we use examples to demonstrate an approach to achieve reflexivity and criticality through embracing, dialoguing about, and reflecting upon the uncertainty and difference in the meaning-making process of translation. Under this new approach, equivalence is not the sole criterion to evaluate the validity and trustworthiness of translation-related work in qualitative research; uncertainty and difference are not merely threats to the validity of qualitative research. We argue that, if addressed appropriately, uncertainty and difference can catalyze researchers’ interrogation of their own positionality as well as various forms of power dynamics, and thus enhance the validity of qualitative research

Design and Experimentation of a Residual-Input Tube-End Cutting System for Plasma Bags Based on Machine Vision

In response to the lack of plasma bag-breaking equipment and time-consuming manual recovery of plasma in China, this study focuses on the distal end cutting of a plasma bag residual-input tube and designs a machine-vision-based plasma bag residual-input tube cutting system. The system comprises a plasma bag rotation device, a bottom disc, an image acquisition device, a cutting device, and a device control system. The image acquisition device captures images of the rotating plasma bag and calculates the Euclidean distance from the end of the plasma bag input-tube distal end to the outer edge of the bottom support plate and the distance from the input-tube distal end to the centerline of the plasma bag. Two distinct value acquisition algorithms are designed for the two types of input tubes. The screw slide moves accordingly. When the plasma bag is above the cutting part, the cutting part cuts the end of the residual-input tube of the plasma bag. The prototype performance tests reveal that the cutting error is within 10% of the end of the plasma bag input tube distal end, the cutting success rate is 100%, and the processing time for each bag is 2.5 s, which meets the time requirements of the plasma bag breaker

Comparison of X-ray Radiant Power Absolute Measurement between a Free-Air Ionization Chamber and a Cryogenic Electrical Substitution Radiometer

Absolute measurement of radiant power in the X-ray region is essential for many applications in astrophysics, spectroscopy, and X-ray diagnostics. Comparison between different measuring methods is an effective way to check their reliability. In the present work, a comparison of X-ray radiant power absolute measurement between a free-air ionization chamber and a cryogenic electrical substitution radiometer was performed at Beijing Synchrotron Radiation Facility. The absolute radiant power obtained by these two methods were mutually compared via a transfer standard detector’s spectral responsivity at a photon energy of 10 keV. The result of the comparison showed that the difference was 0.47%. A conclusion was reached that the free-air ionization chamber and the cryogenic electrical substitution radiometer agreed within the combined relative uncertainty of 3.35%

Experimental Study on the Mechanical Properties and Compression Size Effect of Recycled Aggregate Concrete

To explore the basic mechanical properties and size effects of recycled aggregate concrete (RAC) with different substitution ratios of coarse recycled concrete aggregates (CRCAs) to replace natural coarse aggregates (NCA), the failure modes and mechanical parameters of RAC under different loading conditions including compression, splitting tensile resistance and direct shear were compared and analyzed. The conclusions drawn are as follows: the failure mechanisms of concrete with different substitution ratios of CRCAs are similar; with the increase in substitution ratio, the peak compressive stress and peak tensile stress of RAC decrease gradually, the splitting limit displacement decreases, and the splitting tensile modulus slightly increases; with the increase in the concrete cube’s side length, the peak compressive stress of RAC declines gradually, but the integrity after compression is gradually improved; and the increase in the substitution ratio of the recycled aggregate reduces the impact of the size effect on the peak compressive stress of RAC. Furthermore, an influence equation of the coupling effect of the substitution ratio and size effect on the peak compressive stress of RAC was quantitatively established. The research results are of great significance for the engineering application of RAC and the strength selection of RAC structure design

Pore Structure, Morphology, and Strength of Self-Compacting Foam Material Backfilled Behind the Underground Pipe-Wall of Yellow River

The backfill material for the underground pipe wall of Yellow River embankment was developed to avoid the high settlement and environmental damage caused by high filling and excavation. The interrelation between microstructure and compressive strength of the self-compacting foam backfill material with different water–binder ratios and density grades was investigated. The results indicated that the average pores size of the foam backfill material increased with increasing the water–binder ratio. Moreover, the compressive strength of the foam backfill material first increased and then decreased with continuously increasing the water–binder ratio. Based on the observation and the analysis of the computed tomography (CT) image, it can be found that the pore size of the foam backfill material decreased with the increment of the density grade. The overall findings demonstrated that the pore size and volume played an important role in affecting the performance of the foam backfill material used for the construction of the underground pipe wall of Yellow River embankment

As-Built Inventory and Deformation Analysis of a High Rockfill Dam under Construction with Terrestrial Laser Scanning

The construction of large earth/rock fill dams, albeit its remarkable progress, still relies largely on past experiences. Therefore, a comprehensive yet dependable monitoring program is particularly beneficial for guiding the practice. However, conventional measurements can only produce limited discrete data. This paper exploits the potential of the terrestrial laser scanning (TLS) for an accurate inventory of as-built states of a concrete-faced rockfill dam under construction and for a full-field analysis of the 3D deformation pattern over its upstream face. For the former, a well-designed 3D geodetic system, with a particular consideration of the topography, promises a regulated acquisition of high-quality and blind-zone-free point cloud at field and also eases the cumbersome data registration process while maintaining its precision in house. For the latter, a problem-tailored processing pipeline is proposed for deformation extraction. Its core idea is to achieve a highly precise alignment of the point clouds with Iterative Closed Point algorithms from different epochs in datum areas that displays a featured, undeformed geometry at stable positions across epochs. Then, the alignment transformation matrix is applied to the point clouds of respective upstream face for each epoch, followed by pairwise comparisons of multiple adjusted point clouds for deformation evaluation. A processing pipeline is used to exploit the peal scene data redundancy of the GLQ dam acquired at six different epochs. Statistical analysis shows that satisfactory accuracy for deformation detection can be repeatably achieved, regardless of the scanner’s positioning uncertainties. The obtained 3D deformation patterns are characterised by three different zones: practically undeformed, outward and inward deformed zones. Their evolutions comply well with real construction stages and unique 3D valley topography. Abundant deformation results highlight the potential of TLS combined with the proposed data processing pipeline for cost-efficient monitoring of huge infrastructures compared to conventional labor-intense measurements

Effect of Multi-Component on Crack Resistance of High-Performance Concrete on Subway Underground Station Floor

In view of the easy cracking of the high-performance concrete (HPC) of the subway underground station floor, the effects of fly ash, basalt fiber, expansive agent, and water reducer on the compressive strength, initial crack time, through-crack time, and crack area of the HPC on a subway underground station floor at different ages by orthogonal experiment are examined. Scanning electron microscopy (SEM), X-ray diffraction (XRD), and mercury intrusion porosimetry (MIP) are used to further analyze the microstructure and product composition of the optimal ratio HPC and reference concrete. The results show that with the increase in the content of fly ash and expander, the 7 d and 28 d compressive strength of the HPC gradually decreased. However, as the content of basalt fiber increased, the 7 d and 28 d compressive strength of the HPC gradually increased. The 7 d and 28 d compressive strength of the HPC increased and then decreased with the increase in water-reducer content. When the content of fly ash, basalt fiber and expander increased, the initial crack and through-crack time of the HPC delayed gradually, and the crack area gradually decreased. When the fly-ash content reached 30%, the cracking area accounted for 65.1% of the concrete with 15% fly-ash content. When the basalt fiber content reached 0.4%, the cracking area accounted for 56.5% of the concrete with 0.1% basalt fiber content. When the expander content reached 10%, the cracking area accounted for 60.5% of the concrete with 4% expander content. With the increase in the content of water reducer, the initial crack and through-crack time of the HPC gradually advanced, and the crack area gradually increased. When the water-reducer content reached 1.3%, the cracking area accounted for 105.7% of the concrete with 1.0% water-reducer content. The addition of fly ash and expander can produce a large number of crystalline products to fill the pores, and the disordered distribution of the added basalt fibers increases the compactness of the structure; moreover, the internal micro-pores increase, and the macro-pores decrease, thus improving the crack resistance