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Background Wilson disease (WD) is an autosomal-recessive metabolic disorder characterized by excess copper accumulation predominantly in the liver, brain, and cornea. Clinical diagnosis of WD remains a challenge because of its phenotypic heterogeneity. Here we describe the novel mutation (p. K838N) in the ATP7B gene of a child with WD. The mutation affects a conserved ATP-binding domain that is involved in the catalytic cycle. We also describe the clinical outcome of this patient. Case presentation: We reported a successful early diagnosis and treatment of WD in a 5-year-old boy who presented with unexplained liver dysfunction and hepatitis. Using whole-exome sequencing (WES), we identified a novel ATP7B mutation, K838N, which is valuable for early diagnosis of WD. After combination therapy with penicillamine, zinc supplement, low-copper diet, and supportive treatments for infections, liver problems, and jaundice, the patient’s medical condition gradually improved and stabilized in a clinical follow-up. We suggested that the novel K838N mutation in the case of WD might impair protein function and contribute to WD progression. Conclusions This case emphasizes the importance of WD diagnostic tests during clinical evaluation for patients presenting with an unexplained liver disorder in childhood for better outcomes and genetic counseling.

Donkey in China is well known for its draft purpose and transportation; however, donkey meat has attracted more and more consumers in recent years, yet it lacks sufficient information on its flavor components compared to other main meats. Therefore, in this study, volatile flavor compounds in neck meat of donkey, swine, bovine, and sheep were classified by electronic nose, then confirmed and quantified by gas chromatography-mass spectrometry. High-performance liquid chromatography (HPLC) and gas chromatography were used to quantify free fatty acid, amino acid, and flavor nucleotide. A total of 73 volatile compounds were identified, and aldehydes were identified as the characteristic flavor compounds in neck meat of donkey, bovine, swine and sheep in proportion of 76.39%, 46.62%, 31.64%, and 35.83%, respectively. Particularly, hexanal was the most abundant volatile flavor. Compared with other neck meat, much higher unsaturated free fatty acids were present in donkeys. Furthermore, neck meat of donkeys showed essential amino acid with highest content. Thus, special flavor and nutrition in donkey neck meat make it probably a candidate for consumers in other regions besides Asia.

All known riboswitches use their aptamer to senese one metabolite signal and their expression platform to regulate gene expression. Here, we characterize a SAM-I riboswitch (SAM-IXcc) from the Xanthomonas campestris that regulates methionine synthesis via the met operon. In vitro and in vivo experiments show that SAM-IXcc controls the met operon primarily at the translational level in response to cellular S-adenosylmethionine (SAM) levels. Biochemical and genetic data demonstrate that SAM-IXcc expression platform not only can repress gene expression in response to SAM binding to SAM-IXcc aptamer but also can sense and bind uncharged initiator Met tRNA, resulting in the sequestering of the anti-Shine-Dalgarno (SD) sequence and freeing the SD for translation initiation. These findings identify a SAM-I riboswitch with a dual functioning expression platform that regulates methionine synthesis through a previously unrecognized mechanism and discover a natural tRNA-sensing RNA element. This SAM-I riboswitch appears to be highly conserved in Xanthomonas species., Riboswitches consist of an aptamer domain and expression platform, which senses a signal and regulates gene expression, respectively. Here the authors show that the expression platform of a SAM-I riboswitch from the Gram-negative bacteria can sense and bind uncharged an initiator Met tRNA to control the met operon.

The synthesis of methionine is critical for most bacteria. It is known that cellular methionine has a feedback effect on the expression of met genes involved in de novo methionine biosynthesis. Previous studies revealed that Gram-negative bacteria control met gene expression at the transcriptional level by regulator proteins, while most Gram-positive bacteria regulate met genes at post-transcriptional level by RNA regulators (riboregulators) located in the 5′UTR of met genes. However, despite its importance, the methionine biosynthesis pathway in the Gram-negative Xanthomonas genus that includes many important plant pathogens is completely uncharacterized. Here, we address this issue using the crucifer black rot pathogen Xanthomonas campestris pv. campestris (Xcc), a model bacterium in microbe–plant interaction studies. The work identified an operon (met) involved in de novo methionine biosynthesis in Xcc. Disruption of the operon resulted in defective growth in methionine-limited media and in planta. Western blot analysis revealed that the expression of the operon is dependent on methionine levels. Further molecular analyses demonstrated that the 5′UTR, but not the promoter of the operon, is involved in feedback regulation on operon expression in response to methionine availability, providing an example of a Gram-negative bacterium utilizing a 5′UTR region to control the expression of the genes involved in methionine biosynthesis.

The Internet has obtained an incredible success since its birth. But some inconsiderate designs are limiting its further development to meet the demands for explosively increasing new users and devices. Besides this, some new services, such as security, multicast, mobility, QoS, etc, are also more or less influenced by current Internet due to lack of deliberate design. To address these problems, the next generation Internet Protocol, IPv6, has been proposed by IETF. However, due to IPv4 based Internet’s complicated infrastructure and IPv6’s poor backward compatibility, migration from IPv4 to IPv6 will be a long-term process that cannot be achieved over one night. To conduct a smooth transition to IPv6 and to reduce the negative influence to users and ISPs, many transition mechanisms have been proposed. Unfortunately, most proposed transition mechanisms were designed for unicast intercommunication, leaving the multicast intercommunication problem aside. Moreover, these unicast transition mechanisms are not suited for multicast transition since its one-to-many communication mode is different from unicast. MASTER OF ENGINEERING (SCE)

Biodiesel, derived from vegetable oil via hydrotreating, is becoming a promising alternative energy. Novel Ni-Mo-W/gamma-Al2O3-ZSM-5 catalysts were developed and firstly applied in palm oil hydrogenation process. The catalysts were prepared by extrusion method and characterized by XRD, SEM, TEM, BET, NH3-TPD, and H-2-TPR The influences of acidity on the activity, selectivity, and stability of catalysts were systematically studied. The mechanisms of deoxygenation and isomerization were discussed. The catalyst Ni-Mo-W (5 wt.%-5 wt.%-15 wt.%)/gamma-Al2O3-ZSM-5 (85 wt.% 15 wt.%) was confirmed as the optimum one. Finally, the key reaction parameters such as reaction temperature, pressure, liquid hourly space velocity and H-2/oil volume ratio were optimized. The hydrogenation reaction path of palm oil was also proposed. (C) 2015 Elsevier B.V. All rights reserved.

The spectral responsivity of the filter radiometer（FR）is an essential parameter which needs to be measured accurately in the radiometric determination of the thermodynamic temperature. In this paper the facility of the spectral responsivity measurement and a 900 nm centered FR are studied. The influence issues of the facility and the FR, including the central region, wings and the wavelength step, are discussed. The measurement repeatability of the integration of spectral responsivity is estimated 0.03%, which is suitable for the requirement.

Nanotechnology has the potential to stimulate scientific innovation, promote traditional material industry chain to develop towards high-end direction and greatly benefit the society. In the process of value chain formation and operation, the value chain risks of high-end oriented nanomaterial industry associated with ecological and social environment, health, and safety issues cannot be ignored, however. Value chain formation and risks in high-end oriented nanomaterial industry are studied, and value chain risk management process for risk mitigation and loss prevention has also been put forward.

Growing concern in China has arisen about risks and risk management. China's iron and steel industry has been of primary importance in Chinese national economy. Studies on risks and risk management in Chinese iron and steel enterprises are rare, however. A model of risk sources based on resource ecological economics and eco-industry theory is built up, and the risk factors are analyzed in this paper. Measures contain a circular and dynamic risk management process model, a risk management integration model, and creating a risk management culture, which will help seize potential risk opportunities, take precautions against risks and mitigate risk losses. The enterprises’ performance would benefit from the new ERM process model and measures.

Mechanistic target of rapamycin (MTOR) plays a critical role in the regulation of cell growth and in the response to energy state changes. Drugs inhibiting MTOR are increasingly used in antineoplastic therapies. Myocardial MTOR activity changes during hypertrophy and heart failure (HF). However, whether MTOR exerts a positive or a negative effect on myocardial function remains to be fully elucidated. Here, we show that ablation of Mtor in the adult mouse myocardium results in a fatal, dilated cardiomyopathy that is characterized by apoptosis, autophagy, altered mitochondrial structure, and accumulation of eukaryotic translation initiation factor 4E–binding protein 1 (4E-BP1). 4E-BP1 is an MTOR-containing multiprotein complex-1 (MTORC1) substrate that inhibits translation initiation. When subjected to pressure overload, Mtor-ablated mice demonstrated an impaired hypertrophic response and accelerated HF progression. When the gene encoding 4E-BP1 was ablated together with Mtor, marked improvements were observed in apoptosis, heart function, and survival. Our results demonstrate a role for the MTORC1 signaling network in the myocardial response to stress. In particular, they highlight the role of 4E-BP1 in regulating cardiomyocyte viability and in HF. Because the effects of reduced MTOR activity were mediated through increased 4E-BP1 inhibitory activity, blunting this mechanism may represent a novel therapeutic strategy for improving cardiac function in clinical HF.

Objective: To observe the influences of mental health promotion and mental intervention on mental health status of professionals. Method: 2878 professionals for physical examination were selected and randomly divided into treatment group and control group, with 1443 professionals and 1435 professionals, respectively. Then, the difference of mental health status before and after mental intervention between two groups was compared. Results: In treatment group, the proportion of people with healthy mental and modest pressure after mental intervention was higher than that before mental intervention and that in control group after mental intervention (P0.05). Mental health consciousness, health status, self pressure-relief capability, job satisfaction, and happiness index of professionals were up to 63.3%~78.8%. Conclusions: Mental health promotion and mental intervention may significantly improve mental health status of professionals.

The solid–liquid phase transitions in lauric acid, palmitic acid, stearic acid and their binary systems have been studied by differential scanning calorimetry (DSC) and infrared spectroscopy at various temperatures. The temperatures of the solid–liquid phase transitions in binary systems are 32.84±0.71°C with Δ H values of 146.5–195.1 J g −1 . The spectra shifts in the temperature range corresponding to the solid–liquid phase transition showed that the solid–liquid phase transition of fatty acids is related to intermolecular hydrogen bonds.

This letter develops a simple analytic approach to model the throughput for a bulk transfer of TCP Veno flow. Both simulation and live Internet experiment results demonstrate that such an equation is able to accurately predict TCP Veno throughput over LAN as well as WAN scenarios, with wired links and/or wireless links embedded.

To investigate the relationship between the gene polymorphism of the endothelial nitric oxide synthase enzyme (eNOSG894T) with pulmonary hypertension of Chinese patient with chronic obstructive pulmonary disease (COPD).Fifty normal volunteers (29 male, 21 female, mean age 67 +/- 3) and 50 patients with COPD complicated by pulmonary hypertension (31 male, 19 female, mean age 69 +/- 10) were included in the study. Lung function, arterial blood gases, and echocardiographic examination were performed. The genotype of eNOSG894T was determined with PCR.The frequencies of GT + FT genotype and T allele were significantly greater in the patients compared to the controls. The levels of NOx and NOx/ET were lower in the GT + T genotype [(48 +/- 8) micromol/L, (0.51 +/- 0.20)] than in the GG genotype [(60 +/- 24) micromol/L, (1.43 +/- 0.64)] of COPD. The level of ET was higher in the GT + TT genotype [(104 +/- 38) microg/L] than in the GG genotype [(50 +/- 26) microg/L] of COPD patients. The mean systolic pulmonary artery pressure was higher in the GT + TT genotype [(57 +/- 15) mm Hg, 1 mm Hg = 0.133 kPa] than in the GG genotype [(47 +/- 10) mm Hg] of COPD patients. In stepwise logistic regression analysis for predicting pulmonary artery pressure, the polymorphism of eNOS gene, the level of Nox and smoking were found to be independent variables.The G894T polymorphism of eNOS gene is associated with pulmonary hypertension of COPD in a Chinese population. T allele may be involved in the etiology of pulmonary hypertension with COPD by reducing NO release of the endothelium.

This paper makes use of the fluid-based approach to model the throughput of TCP Veno flow over wired/wireless networks. A generalized formula is derived between Veno's throughput and its window evolution parameters, packet loss rate and round-trip time. Simulation experiments and real network measurements are conducted to validate the accuracy of this model.

Gonadotropin-releasing hormone agonist (GnRHa) is widely used for the treatment of precocious puberty, but there was no identical regime for the dosage and the interval of administration. The aim of this study was to assess the feasibility of subcutaneous administration of Triptorelin with a prolonged interval (six weeks) for the suppression of pituitary-gonadal axis and clinical signs in girls with idiopathic central precocious puberty (ICPP).Forty-six girls with ICPP were enrolled in this trial and were divided into two groups at random, with 26 patients in group A and 20 in group B. There were no significantly differences in chronological age, height, weight, age at clinical onset of puberty and bone age between the two groups before treatment. Triptorelin (Decapeptyl, 3.75 mg) was administered subcutaneously (SC) at 6 weeks intervals in group A or intramuscularly (IM) at 4 weeks intervals in group B. Both forms were given for more than 12 months consecutively. During the period of treatment, the clinical parameters including height, weight, pubertal stage, bone age, uterine volume and ovarian size were documented. The serum levels of luteinizing hormone (LH), follicle stimulating hormone (FSH) and estradiol (E(2)) were monitored using immunoenzymometric assay.Both treatment regimes can completely suppressed the pituitary-gonadal axis. The clinical signs of pubertal development regressed or stabilized in all patients. Breast developments, as reflected by Tanner staging, were regressed. Uterine volume decreased after treatment, however, this decrease did not reach statistical significance. Mean ovarian volume did not change significantly during treatment. The height velocity was significantly decreased from a pretreatment value of 6.3 +/- 1.4 cm/year to 5.8 +/- 1.2 cm/year in group A and 6.7 +/- 1.3 cm/year to 5.4 +/- 1.0 cm/year in group B, respectively. The rate of skeletal maturation was reduced significantly during treatment. The ratio of bone age/chronological age was 1.2 +/- 0.2 or 1.3 +/- 0.3 at the onset of therapy and decreased significantly after the treatment to 0.7 +/- 0.2 or 0.9 +/- 0.1, respectively. The predicted adult height increased significantly and progressively during therapy. The levels of serum LH, FSH and E(2) were returned to the prepubertal condition after 6 - 8 weeks treatment and remained suppressed for the duration of treatment. No significantly side effects of therapy were noted. The most common adverse event during SC treatment was that a non-irritating, 1 cm in diameter mass can be palpated at the site of subcutaneous injection in the abdominal wall of group A patients. It gradually decreased in size, and disappeared after 8 - 12 weeks. Two girls had minimal withdrawal virginal bleeding episodes after the first injection.Both IM and SC triptorelin administration were clinically effective. They can induce profound suppression of hypothalamic-pituitary-gonadal axis while stabilizing height velocity, slowing bone maturation and increasing predicted adult height. These results suggest that subcutaneous injection of triptorelin in 6 weeks intervals at a dosage of 3.75 mg was a safe and acceptable regime for ICPP with good efficacy.

Hydroxyurea (HU), as an inhibitor of ribonucleotide reductase (RR) through interaction with the R2 component, has been used in the treatment of malignancies. Recently, therapeutic strategies in Epstein-Barr Virus (EBV)-targeted lymphoma have been reported. In order to study the effect of HU on EBV, infected Burkitt's lymphoma (BL) Raji cells were passaged in medium containing 50 microM HU for more than 2 months. EBV DNA was eliminated in about 40% of the cells in the HU-treated cultures. The cells were cloned from such cultures, and only EBV-positive clones could be isolated in 102 examined clones. No differences were observed in the EBV-latent state, EBV-gene expression, or cell growth between HU-untreated Raji cells and HU-treated clones. However, relative to parental Raji cells, the HU-treated Raji clones were almost eight times resistant to growth inhibition by HU according to the ID50 value, and the expression of the R2 component of RR increased more than two to three times. These results indicate that HU not only efficiently eliminates the EBV genome from Raji cells but also induces HU resistance. HU resistance was accompanied by over-expression of the R2 component of RR. However, the HU-resistant clones were sensitive to gemcitabine, another inhibitor of RR, and this seems highly relevant to chemotherapeutic combination in the use of these drugs.

T-cell activation and alteration of cytokines are involved in the pathogenesis of atopic asthma. However, the profile of circulating T-lymphocyte subsets, related cytokines, and plasma IgE during acute asthma attacks is still unclear.In an attempt to illustrate the dynamics of these parameters in asthma attacks, we investigated the changes of T-cell subsets, lymphocyte activation, soluble IL-2R, and IgE in peripheral blood in children during and after acute asthma attacks.This study was carried out in a cohort of Chinese children (n = 59) with acute asthma attacks. Immunoassays were performed when the patients had acute attacks before treatment, and the patients were reexamined in the 4 weeks after the resolution of acute attacks with therapy. Paired t tests were used for the statistical analysis of these patients to compare the data obtained during and after the acute attacks. Twenty healthy, age-matched subjects were used as normal control subjects. Nine children with long-term stable asthma were used as control subjects with stable asthma.CD3+, CD4+, CD8+, and IL-2R+ (CD25+) cells; plasma soluble IL-2 receptor; and IgE were significantly higher in patients with acute attacks than in control subjects. (P.05, P.05, P.001, P.05, P.0001, and P.0001, respectively). Immunoelectron microscopy exhibited an increased expression of IL-2R on lymphocytes in acute attacks as compared to control subjects. The abnormalities returned to normal, with the exception of IgE, when clinical remission was achieved after treatment. Correlation analyses revealed a positive relationship between plasma IgE and soluble IL-2R in asthma attacks (r = 0.83, P =.0001). Plasma IgE and soluble IL-2R of those who were in remission positively correlated with their production in acute attacks (r = 0.58, P =.001 and r = 0.71, P =.0001, respectively).This study suggests that (1) the percentage of CD4+, CD8+, or IL-2R+ lymphocytes in peripheral blood was significantly elevated during acute attacks and returned to normal ranges after complete remission was achieved; (2) plasma soluble IL-2R is a sensitive marker for asthma activity; and (3) atopic asthmatic children seem to have a hereditary predisposition of having higher levels of soluble IL-2R in asthma attacks, coinherited with the trait of IgE.