Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

[[abstract]]Background: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disease induced by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB). The deficiency of ARSB leads to an accumulation of dermatan sulfate (DS) in lysosomes and gross excretion in the urine. The prevalence of these mutations in Asian MPS VI patients has not vet been thoroughly investigated. We studied the ARSB gene profile of 9 Taiwanese MPS VI patients. Methods: To validate the patients' type of MPS, urine mucopolysaccharide was defined by 2-dimensional electrophoresis and leukocyte ARSB activity was determined by fluorogenic assay. Direct sequencing was used to identify any mutation in the patients' ARSB gene. Results: Abnormal excretion of DS and low leukocyte ARSB activity was observed in the urine samples of all 9 patients studied. A total of 8 mutations within the ARSB gene were revealed by molecular analysis. Four mutations, c.574T>C (p.Cys192Arg) and c.943C>T (p.Arg315Stop) mutations had been observed in other populations and c.716A>G (p.Gln239Arg) and c.1197C>G (p.Phe399Leu) were previously reported by our group. The other 4 mutations c.395T>C (p.Leu132Pro), c.908G>A (p.Gly3030u), c.1228 C>A (p.His430Asn) and c.1394C>G (p.Ser465X), had not been reported before. The c.1197C>G (p.Phe399Leu) and c.395T>C (p. Leu132Pro) mutations were the most common missense mutation in the patients studied (9 in 18 mutant alleles). According to statistical data, the incidence of MPS VI in Taiwan is approximately I in 833,000 in live birth. Conclusion: The ARSB gene mutation profile in Taiwanese MPS VI patients may be different from MPS VI patients from other countries. (C) 2008 Elsevier B.V. All rights reserved

Roles of TRPV1 and neuropeptidergic receptors in dorsal root reflex-mediated neurogenic inflammation induced by intradermal injection of capsaicin

<p>Abstract</p> <p>Background</p> <p>Acute cutaneous neurogenic inflammation initiated by activation of transient receptor potential vanilloid-1 (TRPV₁) receptors following intradermal injection of capsaicin is mediated mainly by dorsal root reflexes (DRRs). Inflammatory neuropeptides are suggested to be released from primary afferent nociceptors participating in inflammation. However, no direct evidence demonstrates that the release of inflammatory substances is due to the triggering of DRRs and how activation of TRPV₁receptors initiates neurogenic inflammation via triggering DRRs.</p> <p>Results</p> <p>Here we used pharmacological manipulations to analyze the roles of TRPV₁and neuropeptidergic receptors in the DRR-mediated neurogenic inflammation induced by intradermal injection of capsaicin. The degree of cutaneous inflammation in the hindpaw that followed capsaicin injection was assessed by measurements of local blood flow (vasodilation) and paw-thickness (edema) of the foot skin in anesthetized rats. Local injection of capsaicin, calcitonin gene-related peptide (CGRP) or substance P (SP) resulted in cutaneous vasodilation and edema. Removal of DRRs by either spinal dorsal rhizotomy or intrathecal administration of the GABA_Areceptor antagonist, bicuculline, reduced dramatically the capsaicin-induced vasodilation and edema. In contrast, CGRP- or SP-induced inflammation was not significantly affected after DRR removal. Dose-response analysis of the antagonistic effect of the TRPV₁receptor antagonist, capsazepine administered peripherally, shows that the capsaicin-evoked inflammation was inhibited in a dose-dependent manner, and nearly completely abolished by capsazepine at doses between 30–150 μg. In contrast, pretreatment of the periphery with different doses of CGRP_8–37(a CGRP receptor antagonist) or spantide I (a neurokinin 1 receptor antagonist) only reduced the inflammation. If both CGRP and NK₁receptors were blocked by co-administration of CGRP_8–37and spantide I, a stronger reduction in the capsaicin-initiated inflammation was produced.</p> <p>Conclusion</p> <p>Our data suggest that 1) the generation of DRRs is critical for driving the release of neuropeptides antidromically from primary afferent nociceptors; 2) activation of TRPV₁receptors in primary afferent nociceptors following intradermal capsaicin injection initiates this process; 3) the released CGRP and SP participate in neurogenic inflammation.</p

New flexible silicone-based EEG dry sensor material compositions exhibiting improvements in lifespan, conductivity, and reliability

© 2016 by the authors; licensee MDPI, Basel, Switzerland. This study investigates alternative material compositions for flexible silicone-based dry electroencephalography (EEG) electrodes to improve the performance lifespan while maintaining high-fidelity transmission of EEG signals. Electrode materials were fabricated with varying concentrations of silver-coated silica and silver flakes to evaluate their electrical, mechanical, and EEG transmission performance. Scanning electron microscope (SEM) analysis of the initial electrode development identified some weak points in the sensors’ construction, including particle pull-out and ablation of the silver coating on the silica filler. The newly-developed sensor materials achieved significant improvement in EEG measurements while maintaining the advantages of previous silicone-based electrodes, including flexibility and non-toxicity. The experimental results indicated that the proposed electrodes maintained suitable performance even after exposure to temperature fluctuations, 85% relative humidity, and enhanced corrosion conditions demonstrating improvements in the environmental stability. Fabricated flat (forehead) and acicular (hairy sites) electrodes composed of the optimum identified formulation exhibited low impedance and reliable EEG measurement; some initial human experiments demonstrate the feasibility of using these silicone-based electrodes for typical lab data collection applications

RePAD: Real-time Proactive Anomaly Detection for Time Series

During the past decade, many anomaly detection approaches have been introduced in different fields such as network monitoring, fraud detection, and intrusion detection. However, they require understanding of data pattern and often need a long off-line period to build a model or network for the target data. Providing real-time and proactive anomaly detection for streaming time series without human intervention and domain knowledge is highly valuable since it greatly reduces human effort and enables appropriate countermeasures to be undertaken before a disastrous damage, failure, or other harmful event occurs. However, this issue has not been well studied yet. To address it, this paper proposes RePAD, which is a Real-time Proactive Anomaly Detection algorithm for streaming time series based on Long Short-Term Memory (LSTM). RePAD utilizes short-term historic data points to predict and determine whether or not the upcoming data point is a sign that an anomaly is likely to happen in the near future. By dynamically adjusting the detection threshold over time, RePAD is able to tolerate minor pattern change in time series and detect anomalies either proactively or on time. Experiments based on two time series datasets collected from the Numenta Anomaly Benchmark demonstrate that RePAD is able to proactively detect anomalies and provide early warnings in real time without human intervention and domain knowledge.Comment: 12 pages, 8 figures, the 34th International Conference on Advanced Information Networking and Applications (AINA 2020

(pi,pi)-electronic order in iron arsenide superconductors

The distribution of valence electrons in metals usually follows the symmetry of an ionic lattice. Modulations of this distribution often occur when those electrons are not stable with respect to a new electronic order, such as spin or charge density waves. Electron density waves have been observed in many families of superconductors[1-3], and are often considered to be essential for superconductivity to exist[4]. Recent measurements[5-9] seem to show that the properties of the iron pnictides[10, 11] are in good agreement with band structure calculations that do not include additional ordering, implying no relation between density waves and superconductivity in those materials[12-15]. Here we report that the electronic structure of Ba1-xKxFe2As2 is in sharp disagreement with those band structure calculations[12-15], instead revealing a reconstruction characterized by a (pi,pi) wave vector. This electronic order coexists with superconductivity and persists up to room temperature

Allocating the fixed cost:an approach based on data envelopment analysis and cooperative game

Allocating the fixed cost among a set of users in a fair way is an important issue both in management and economic research. Recently, Du et al. (Eur J Oper Res 235(1): 206–214, 2014) proposed a novel approach for allocating the fixed cost based on the game cross-efficiency method by taking the game relations among users in efficiency evaluation. This paper proves that the novel approach of Du et al. (Eur J Oper Res 235(1): 206–214, 2014) is equivalent to the efficiency maximization approach of Li et al. (Omega 41(1): 55–60, 2013), and may exist multiple optimal cost allocation plans. Taking into account the game relations in the allocation process, this paper proposes a cooperative game approach, and uses the nucleolus as a solution to the proposed cooperative game. The proposed approach in this paper is illustrated with a dataset from the prior literature and a real dataset of a steel and iron enterprise in China

Structure of hadron resonances with a nearby zero of the amplitude

We discuss the relation between the analytic structure of the scattering amplitude and the origin of an eigenstate represented by a pole of the amplitude.If the eigenstate is not dynamically generated by the interaction in the channel of interest, the residue of the pole vanishes in the zero coupling limit. Based on the topological nature of the phase of the scattering amplitude, we show that the pole must encounter with the Castillejo-Dalitz-Dyson (CDD) zero in this limit. It is concluded that the dynamical component of the eigenstate is small if a CDD zero exists near the eigenstate pole. We show that the line shape of the resonance is distorted from the Breit-Wigner form as an observable consequence of the nearby CDD zero. Finally, studying the positions of poles and CDD zeros of the KbarN-piSigma amplitude, we discuss the origin of the eigenstates in the Lambda(1405) region.Comment: 7 pages, 3 figures, v2: published versio

A test-proven As-grown-Generation (A-G) model for predicting NBTI under use-bias

For the first time, we demonstrate that A-G model extracted from short Vg-accelerated stresses can predict both long term DC and AC NBTI under low and dynamic operation Vg. This is achieved by successfully separating non-saturating defects from the saturating ones, allowing reliable extraction of power exponents needed for long term prediction. Unlike R-D model, A-G model does not require solving differential equations for AC NBTI. This saves computation time significantly, especially for high-frequency that needs small time-step, and makes it readily implementable in SPICE-like simulators

Three-dimensional heterostructure of metallic nanoparticles and carbon nanotubes as potential nanofiller

The effect of the dimensionality of metallic nanoparticle-and carbon nanotube-based fillers on the mechanical properties of an acrylonitrile butadiene styrene (ABS) polymer matrix was examined. ABS composite films, reinforced with low dimensional metallic nanoparticles (MNPs, 0-D) and carbon nanotubes (CNTs, 1-D) as nanofillers, were fabricated by a combination of wet phase inversion and hot pressing. The tensile strength and elongation of the ABS composite were increased by 39% and 6%, respectively, by adding a mixture of MNPs and CNTs with a total concentration of 2 wt%. However, the tensile strength and elongation of the ABS composite were found to be significantly increased by 62% and 55%, respectively, upon addition of 3-D heterostructures with a total concentration of 2 wt%. The 3-D heterostructures were composed of multiple CNTs grown radially on the surface of MNP cores, resembling a sea urchin. The mechanical properties of the ABS/3-D heterostructured nanofiller composite films were much improved compared to those of an ABS/mixture of 0-D and 1-D nanofillers composite films at various filler concentrations. This suggests that the 3-D heterostructure of the MNPs and CNTs plays a key role as a strong reinforcing agent in supporting the polymer matrix and simultaneously serves as a discrete force-transfer medium to transfer the loaded tension throughout the polymer matrix