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PURPOSE: To investigate the potential genetic cause in a primary infertility patient with multiple morphological abnormalities of sperm flagella (MMAF). METHODS: The patient’s sperm was observed by light and electron microscopy. Whole-exome sequencing (WES) was carried out to identify candidate genes. Then, the mutation found by WES was verified by Sanger sequencing. The proteins interacting with ARMC2 were revealed by co-immunoprecipitation (co-IP) and mass spectrometry. Intracytoplasmic sperm injection (ICSI) was carried out to achieve successful pregnancy. RESULTS: Typical MMAF phenotype (absent, short, coiled, bent irregular flagella) was shown in the patient’s sperm. A novel homozygous mutation in ARMC2 (c.1264C > T) was identified. The proteins interacting with ARMC2 we found were CEP78, PGAM5, RHOA, FXR1, and SKIV2L2. The ICSI therapy was successful, and boy-girl twins were given birth. CONCLUSION: We found a novel mutation in ARMC2 which led to MMAF and male infertility. This is the first report of ICSI outcome of patient harboring ARMC2 mutation. The interacting proteins indicated that ARMC2 might be involved in multiple processes of spermatogenesis.

Electric arc furnace (EAF) slag aggregate, a waste by-product of the steel industry, exhibited a high potential for phosphorus (P) removal and had attracted considerable attention. The main objectives of this study were to evaluate the performance of using EAF slag aggregate as an adsorbent for P removal and identify its P removal capacity. A series of batch tests showed that P removal capacity of EAF slag increases gradually with the increase of pH with a range of 2-10, while the highest P removal capacity (1.94 mg/g) can be obtained at pH 12. The adsorption kinetics of P on EAF slag can be described by pseudo-second-order kinetic equations. Isothermal adsorption simulations showed that the best fitted model was the Freundlich model with a correlation coefficient of 0.9825. A continuous flow column experiment feeding a synthetic influent containing 15 mg P/L was operated for 60 days and the P removal efficiency was greater than 95% with a P removal capacity of 1.6 mg P/g slag. The results obtained in this study showed that EAF slag could act as an efficient adsorbent for P removal. Calcium phosphate precipitation depends on the release of Ca

The aim of the present study was to determine whether hyaluronic acid (HA) or physical therapy agents (PTA) can improve functional parameters in patients with knee Kashin-Beck disease (KBD). For 2 years, patients (n=55) were treated with HA weekly for 5 weeks, then received 6th and 7th injections on the 3rd and 6th month, respectively, for 7 injections in total. Patients (n=53) were treated with PTA five times a week for 3 weeks every month for 6 months. The patients were evaluated with the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) and the visual analog pain scale (VAS). Trial registration, ChiCTR-TRC-12002189 (http://www.chictr.org/). During the study, following treatment interruption, pain increased in the PTA group (from a mean value of 85.7±83.8 mm at month 12 to 145.2±128.8 mm at month 18 and 201.3±150.5 mm at month 24), while it remained stable in the HA group (from a mean value of 80.7±70.6 mm at month 12 to 90.1±95.2 mm at month 18 and 82.6±85.3 mm at month 24), with a statistically significant difference in favor of HA at month 18 (P

3'-Phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) has been shown to be important in the development of normal skeletal structure. The aim of the present study was to evaluate the role of PAPSS2 in the differentiation of chondrocytes as well as their mechanisms. Using RNA interference-mediated via a lentivirus and a retrovirus, PAPSS2 gene silence and overexpression in ATDC5 chondrogenic cells were performed. Chondrocyte differentiation and chondrogenic-related gene markers associated with extracellular matrix formation were noted. The mRNA and protein expression for Wnt4, β-catenin and SOX9 genes were observed. The PAPSS2 transcript expression levels progressively decline in ATDC5-induced chondrocyte-like cells during differentiation. Silencing of PAPSS2 expression had a significantly attenuating effect on cell differentiation and decreased expression of collagen II and X. In contrast, over-expression of PAPSS2 promoted the differentiation of ATDC5 chondrogenic cells. The mRNA expression levels of Wnt4 and SOX9 decreased significantly in PAPSS2 knock down cells vs. control cells. However, this expression was increased in the cells over-expressing PAPSS2. These data indicate that PAPSS2 regulates aggrecan activity as well as cell differentiation. The findings favor a mechanism by which PAPSS2 induces differentiation in ATDC5 cells via direct regulation of early signaling events that promote formation of collagenous matrix components. This control is probably mediated via extracellular matrix formation Wnt/β-catenin signaling pathways.

Kashin-Beck disease (KBD) is an endemic, chronic, and degenerative osteoarthropathy. Selenium (Se) deficiency plays important role in the pathogenesis of KBD. We aimed to screen Se-related gene from chondrocytes of patients with KBD. Whole-genome oligonucleotide microarrays were used to detect differentially expressed genes. qRT-PCR was used to confirm the microarray results. Comparative Toxicogenomics Database (CTD) was used to screen Se-related genes from differentially expressed genes. Gene Ontology (GO) classifications and network analysis of Se-related genes were constituted by STRING online system. Three hundred ninety-nine differentially expressed genes were obtained from microarray. Among them, 54 Se-related genes were identified by CTD. The qRT-PCR validation showed that four genes expressed similarly with the ones in the microarray transcriptional profiles. The Se-related genes were categorized into 6 cellular components, 8 molecular functions, 44 biological processes, 10 pathways, and 1 network by STRING. The Se-related gene insulin-like growth factor binding protein 2 (IGFBP2), insulin-like growth factor binding protein 3 (IGFBP3), interleukin 6 (IL6), BCL2, apoptosis regulator (BCL2), and BCL2-associated X, apoptosis regulator (BAX), which involved in many molecular functions, biological processes, and apoptosis pathway may play important roles in the pathogenesis of KBD.

© 2017 The Authors. Published by Elsevier Ltd. Operational modal analysis has become the focus of much research attention in the last two decades. Instead of an artificial force, the ambient excitation is considered as white-noise input to the structure and modal properties are calculated only from measured responses. In terms of the measurement technique, full-field optical methods, for example: electronic speckle pattern interferometry and digital image correlation have become popular and there is now much interest in applying these methods in structural dynamics. In this case the generated data is a full displacement map of the object, therefore there is no necessity to select specific measurement locations in order to visualise the deformation. However, there are generally large volumes of data to be processed, which makes the computation expensive and time-consuming, especially for engineering structures with large surface areas. Thanks to image decomposition techniques, huge amounts of data can be compressed into tens of shape descriptors with acceptably small distortion. In this paper, operational modal analysis and full-field methods are combined together, and the analysis is done in the shape descriptor domain to reduce the required computation time. Simulated responses from a finite element model of a clamped plate (under random excitation) serve to illustrate the methodology. Several different operational modal analysis methods are applied to analyse the data, and results are provided for purposes of comparison.

For the analysis of vibrations and mode shape extraction in particular the use of optical full-field measurement techniques has grown during the last years. Beside techniques like Digital Speckle Pattern Interferometry, Moiré, Thermography or Photoelasticity the Digital Image Correlation techniques have already been successfully proven to be an accurate displacement analysis tool for a wide range of applications.

Recent advances in measurement techniques, including digital image correlation, automated photoelasticity, electronic speckle pattern interferometry and thermoelastic stress analysis, permit full-field maps of displacement or strain to be obtained easily. They provide large volumes of mostly redundant data, which should be condensed to the essential information to permit straightforward processes such as validations of computational models or damage assessments. A way to do this is by image processing, an important aspect of which is the definition of an orthogonal basis (orthogonal kernel functions). Generally, this is problem dependent and requires some skill from the analyst if the number of image features (the coefficients of the orthogonal basis) is to be restricted to a suitably small number. Advantage may be taken of patterns of symmetry, for example cyclically symmetric patterns are well-suited to treatment by Zernike polynomials and rectangular patterns are well-suited to treatment by Fourier series. The Zernike and Fourier kernels are continuous polynomials with orthogonality properties that require integration and must be discretised. The discrete Tchebichef polynomials are ideal for the treatment of full-field information at multiple discrete data points. In many cases the data field is localised around a particular feature, such as local strain around a hole in a tension-test specimen. In this case, the polynomial basis should similarly be localised by various forms of scaling – this requires the application of the Gram-Schmidt procedure to maintain orthogonality. The image features (sometimes called shape features) are meaningful and may be used to identify particular patterns in the data – e.g. for detecting cracks or other forms of damage. When assembled in a feature vector, the distance between feature vectors from measured and numerical results are useful for refining numerical models. In this paper the principles of image analysis, as applied to full-field displacement/strain data are explained and experimental examples are used to illustrate the practical usefulness of the method. The applications include (i) vibration mode shapes of laminated honeycomb structures and, (ii) strain in an aluminium plate with a central hole in tension.

The term damage can be generally defined as a change introduced into a system that affects its performance. Its identification and characterization is a valid help in deciding amongst continuing the operation or performing a repair or replacement of the system. A valid support to this decision is based on the use of well-known measurement techniques from Non-Destructive Testing and Evaluation (NDT&E). A well-established correlation between damage and features extracted from the measured data makes these techniques capable of providing information about the extent of the damage. However the prediction of the remaining useful life of a system by comparing full-filed measurements techniques and FEM analysis results is the challenge of an increasing number of research studies. The need of a guide for enumerating the extent of the damage has been the thrust to perform this work. A common methodology developed for both numerical and experimental studies will be presented. It consists of three main parts: proper selection of the parameter capable of describing the damage in a quantitative manner; several approaches to obtain results from measurement techniques and FEM analysis; and damage assessment making use of a quantitative comparison of FEM results only, full-field experimental results only, or comparison of FEM to experimental results. A different approach in damage assessment will be also presented making use of Zernike moment descriptors from which the severity of the damage is inferred. An example to illustrate the methodology will be shown.

In order to explore whether the apoptosis in ischemia-reperfusion injury could be affected by Ginkgo biloba extract (GBE) and the free radical scavenger GBE could suppress this affection. Rabbits were randomly divided into sham group, ischemia group, ischemia-reperfusion group (1, 6, 24, 48 h), the drug group (1, 6, 24, 48 h). Measure the rate of apoptosis by flow cytometry, the caspase 9 and apoptosis-inducing factor (AIF) in the cytoplasm and serum by ELISA. Compared with the sham group and ischemia group, the reperfusion group increased the rate of apoptosis, the caspase 9 and AIF in serum have a peak at 24 h after reperfusion, in the cytoplasm the peak at 6 h.GBE inhibit performance has the systemic and local aspects. The apoptosis of nerve cells after spinal cord ischemia-reperfusion has the relationship with the mitochondrial caspase-dependent and caspase-independent pathways and both the local and systemic role. GBE inhibits nerve cell apoptosis by these ways.

The achievement of high levels of confidence in finite element models involves their validation using measured responses such as static strains or vibration mode shapes. A huge amount of data with a high level of information redundancy is usually obtained in both the detailed finite element prediction and the full-field measurements so that achieving a meaningful validation becomes a challenging problem. In order to extract useful shape features from such data, image processing and pattern recognition techniques may be used. One of the most commonly adopted shape feature extraction procedures is the Fourier transform in which the original data may be expressed as a set of coefficients (coordinates) of the decomposition kernels (bases) in the feature space. Localised effects can be detected by the wavelet transform. The acquired shape features are succinct and therefore simplify the model validation, based on the full-field data, allowing it to be achieved in a more effective and efficient way. In this paper, full-field finite element strain patterns of a plate with a centred circular hole are considered. A special set of orthonormal shape decomposition kernels based on the circular Zernike polynomials are constructed by the Gram-Schmidt orthonormalization process. It is found that the strain patterns can suitably be represented by only a very small number of shape features from the derived kernels.

Finite element model updating of a Westland Lynx XZ649 helicopter tail is presented. Eigenvalue sensitivities with respect to Young’s modulus and mass density are used. Large groups based on material input data were divided to form smaller subgroups so that those parts of the model responsible for errors in the predicted eigenvalues were located. A particular new development was the use of parameter clustering based on the similarity of different columns of the sensitivity matrix. Finally the finite element model was updated successfully with regard to the lower frequency tail-bending modes.

Total Panax notoginseng saponin (PNS) has been extensively used to treat a variety of diseases, such as bone fractures, soft tissue injuries, etc. In this study, mouse calvaria-original osteoblastic MC3T3-E1 cells were cultured in various concentrations of PNS (0.005–5 mg/mL) during the period (1, 5, 14, and 23 d). At the endpoint, the osteogenic capacity of MC3T3-E1 cells was investigated by measuring the alkaline phosphatase (ALP) activity, the deposited calcium, and the expression of osteogenic-related markers, including bone collagen type 1 (Col1) and osteocalcin (OCN). Compared with all groups in each period, the most pronounced effect was observed at the concentration range between 0.05 and 0.5 mg/mL (P

Kashin-Beck disease (KBD) is a special type of endemic osteoarthritis. It has been suggested that alterations in selenium metabolism and apoptosis play a role in KBD. However, the underlying molecular mechanism remains largely unclear. We performed a microarray analysis using RNA isolated from cartilages of KBD patients and healthy controls, through Significance Analysis of Microarray (SAM) software. Functional gene networks and crucial molecules associated with differentially expressed genes were investigated via Ingenuity Pathway Analysis (IPA) and hub gene analysis. Quantitative real-time PCR was used to check the validation of chip test. We identified 52 up-regulated apoptosis-related genes and 26 down-regulated selenium-related genes between KBD and controls, and these genes associated with the "MYC-mediated apoptosis signaling pathway". We confirmed the results from array studies with quantitative real-time PCR analysis. Our results suggest that abnormal regulation of selenium metabolism and apoptosis through the MYC mediated signaling pathway contributes to the pathogenesis of KBD, but the relationship between apoptosis gene and selenium gene was not found.