[Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study]. / ç½•è§ç— ç ”ç©¶ï¼šGPAA1åŸºå› çªå˜å¯¼è‡´ç³–åŸºç£·è„‚é °è‚Œé†‡ç”Ÿç‰©åˆæˆç¼ºé™·15型.

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the GPAA1 gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by GPAA1 gene mutation in China and summarizes the genetic features, clinical features, diagnosis, and treatment of this disease, which provides a reference for the early diagnosis and treatment of GPIBD15.

An Improved Network Time Protocol for Industrial Internet of Things.

In the industrial Internet of Things, the network time protocol (NTP) can be used for time synchronization, allowing machines to run in sync so that machines can take critical actions within 1 ms. However, the commonly used NTP mechanism does not take into account that the network packet travel time over a link is time-varying, which causes the NTP to make incorrect synchronization decisions. Therefore, this paper proposed a low-cost modification to NTP with clock skew compensation and adaptive clock adjustment, so that the clock difference between the NTP client and NTP server can be controlled within 1 ms in the wired network environment. The adaptive clock adjustment skips the clock offset calculation when the NTP packet run trip time (RTT) exceeds a certain threshold. The clock skew compensation addresses the inherent issue that different clocks (or oscillators) naturally drift away from each other. Both adaptive clock adjustment and clock skew compensation are environment dependent and device dependent. The measurement result in our experimental environment shows that the when the RTT threshold is set at 1.7 ms, the best synchronization accuracy is achieved.

Design and Implementation of Machine Tool Life Inspection System Based on Sound Sensing.

The main causes of damage to industrial machinery are aging, corrosion, and the wear of parts, which affect the accuracy of machinery and product precision. Identifying problems early and predicting the life cycle of a machine for early maintenance can avoid costly plant failures. Compared with other sensing and monitoring instruments, sound sensors are inexpensive, portable, and have less computational data. This paper proposed a machine tool life cycle model with noise reduction. The life cycle model uses Mel-Frequency Cepstral Coefficients (MFCC) to extract audio features. A Deep Neural Network (DNN) is used to understand the relationship between audio features and life cycle, and then determine the audio signal corresponding to the aging degree. The noise reduction model simulates the actual environment by adding noise and extracts features by Power Normalized Cepstral Coefficients (PNCC), and designs Mask as the DNN's learning target to eliminate the effect of noise. The effect of the denoising model is improved by 6.8% under Short-Time Objective Intelligibility (STOI). There is a 3.9% improvement under Perceptual Evaluation of Speech Quality (PESQ). The life cycle model accuracy before denoising is 76%. After adding the noise reduction system, the accuracy of the life cycle model is increased to 80%.

[Fingerprint analysis and Q-marker prediction of processed liquorice products].

Licorice has long been regarded as one of the most popular herbs, with a very wide clinical application range. Whether being used alone or as an ingredient in prescription, it has an important role which cannot be ignored. However, the efficacy and chemical constituents of licorice will change after honey-processing. Therefore, it is necessary to find quality markers before and after honey-processing to lay the foundation for a comprehensive evaluation of the differences between raw and processed licorice pieces. HPLC-DAD was employed to establish fingerprints of raw and processed licorice. Multivariate statistical analysis methods including principal component analysis(PCA) and orthogonal partial least squares discrimination analysis(OPLS-DA) were applied to screen out the differential components before and after processing of licorice. Based on network pharmacology, the targets and pathways corresponding to the differential components were analyzed with databases such as Swiss Target Prediction and Metascape, and the "component-target-pathway" diagram was constructed with Cytoscape 3.6.0 software to predict the potential quality markers. A total of 17 common peaks were successfully identified in the established fingerprint, and seven differential components were selected as potential quality markers(licoricesaponin G2, glycyrrhizic acid, liquiritigenin, liquiritin, isoliquiritin, liquiritin apioside and isoliquiritigenin). The HPLC fingerprint method proposed in this study was efficient and feasible. The above seven differential chemical components screened out as potential quality markers of licorice can help to improve and promote the overall quality. These researches offer more sufficient theoretical basis for scientific application of licorice and its corresponding products.

Feasible temperature of percutaneous microwave ablation of dog liver abutting the bowel.

PURPOSE: This study used a dog model to determine the optimal temperature of percutaneous microwave ablation that causes complete necrosis of liver but not the adjacent bowel, supporting the use of this method to specifically and effectively treat liver tumour abutting the bowel. MATERIALS AND METHODS: Ultrasound-guided percutaneous microwave ablation of liver abutting the bowel was performed on healthy adult dogs. Temperature of the ablation margin was monitored and controlled through inserted thermal monitoring needles. Dogs were divided into three groups and received microwave ablation at 75-95°C, 65-75°C, or 55-65°C. Imaging and histological examination were used to evaluate the damage of the bowel adjacent to the ablated liver. RESULTS: Within one hour of treatment, the bowel adjacent to the ablated liver was seriously burned in the group receiving 75-95°C microwave ablation. Inflammation and congestion were found in the submucosa of the bowel in the group receiving 65-75°C microwave ablation. Minor inflammation was found in the mucosa of the bowel in the group receiving 55-65°C microwave ablation. Moreover, in the group receiving 55-65°C microwave ablation, ablated liver areas were covered with omenta, and histological examination revealed inflammatory reaction of the omenta 28 days after ablation. CONCLUSIONS: Microwave ablation at 55-65°C for 6 min is preferred for ablation of liver tissue abutting the bowel in dogs. These findings may provide some valuable reference for percutaneous microwave ablation of human liver tumour adjacent to the bowel.

Immune responses in mice vaccinated with a DNA vaccine expressing a new elastase from Trichinella spiralis.

The elastase, which belongs to the serine protease family, hydrolyses various proteins and may be involved in the parasite invasion. In this study, complete sequence of elastase-1 (TsE) the nematode Trichinella spiralis (Owen, 1835) was cloned into the plasmid pcDNA3.1 as TsE DNA vaccine. After intramuscular vaccination, serum anti-Trichinella antibodies (IgG and subclass IgG1/IgG2a, and IgA), total and specific intestinal mucosal sIgA in mice vaccinated with pcDNA3.1/TsE were measured by ELISA. The results showed that vaccination with pcDNA3.1/TsE induced a systemic humoral immune response (high levels of serum IgG and subclass IgG1/IgG2a and IgA) and local intestinal mucosal immune responses (high levels of TsE-specific sIgA). Vaccination of mice with TsE DNA vaccine also triggered a systemic and local concomitant Th1/Th2 response, as demonstrated by significant elevation of Th1 (IFN-γ and IL-2) / Th2 (IL-4 and IL-10) cytokine levels after the spleen, mesenteric lymph node and Peyer's patch cells from vaccinated mice were stimulated with recombinant TsE (rTsE). The vaccination of mice with pcDNA3.1/TsE displayed a 17% reduction of intestinal adult worms and a 39% reduction of muscle larvae. Our results indicated that TsE DNA vaccine elicited a systemic concomitant Th1/Th2 response and an enteral local sIgA response, and produced a partial protection against infection with T. spiralis. The TsE may be regarded as a potential candidate vaccine target against Trichinella infection. The oral polyvalent vaccines should be developed to improve the protective efficacy of anti-Trichinella vaccines.

Low-Voltage OTA-C Filter With an Area- and Power-Efficient OTA for Biosignal Sensor Applications.

This paper presents a systematic method for decreasing the amount of transconductors used by an operational transconductance amplifier-capacitor (OTA-C) filter to decrease the power consumption and the active area. An OTA with a local-feedback linearized technique and a transconductance booster is proposed based on the presented method. The proposed OTA combines current division with source degeneration to enhance linearity and implement low transconductance. This topology enables the proposed OTA to drive multiple integration capacitors without an additional output stage. The OTA-based circuit realizes low power consumption by operating under a weak inversion at a supply voltage of 1 V. Thus, a fifth-order ladder-type low-pass Butterworth OTA-C filter is implemented for the acquisition of electrocardiograph signals. The proposed method is validated using a prototype fabricated through a 1P6M 0.18-µm CMOS process. Results show that in ECG signal acquisition, the proposed filter has a signal bandwidth located within 250 Hz, a dynamic range of 61.2 dB, and a power consumption of 41 nW to achieve a figure-of-merit of 5.4 × 10-13. The active area of the filter is 0.24 mm2.

Advanced glycosylation end products induce NF-kappaB dependent iNOS expression in RAW 264.7 cells.

Advanced glycosylation end products (AGEs) have been implicated in the pathogenesis of diabetic complications. Treatment of RAW 264.7 macrophages with bovine serum albumin (BSA)-derived AGEs caused dose- and time-dependent increases in nitrite production and inducible nitric oxide synthase (iNOS) expression. These effects were blocked by the nuclear factor-kappa B (NF-kappaB) inhibitor, pyrrolidone dithiocarbamate (PDTC). BSA-AGEs also stimulated the translocation of p65 NF-kappaB from cytosol to the nucleus. Electrophoretic mobility shift assay revealed that the NF-kappaB DNA-protein-binding activity was enhanced by AGEs. The tyrosine kinase inhibitor, genistein, the phosphatidylinositol-3-kinase (PI 3-K) inhibitor, LY 294002, the protein kinase C (PKC) inhibitor, Ro 31-8220, and the p38 mitogen-activated protein kinase (MAPK) inhibitor, SB 203580, all inhibited AGEs-stimulated iNOS expression, NO release, NF-kappaB translocation and NF-kappaB DNA binding activity. These results suggest that AGEs may activate NF-kappaB via an upstream signaling cascade composed of tyrosine kinase, PI 3-K, PKC, and p38 MAPK, resulting in the induction of iNOS expression in RAW 264.7 macrophages.

Involvement of p38 mitogen-activated protein kinase in PLL-AGE-induced cyclooxgenase-2 expression.

In the present study, murine RAW 264.7 macrophages were incubated with poly-L-lysine-derived advanced glycosylation end products (PLL-AGEs) to examine cyclooxygenase-2 protein expression. Treatment of RAW 264.7 cells with PLL-AGEs caused the dose-dependent expression of cylooxygenase-2 but not cylooxygenase-1 and an increase in cylooxygenase activity. Increased cylooxygenase-2 expression was seen at 6 h and reached a maximum at 24 h. The tyrosine kinase inhibitor, genistein, and the p38 mitogen-activated protein kinase (MAPK) inhibitor, [4-(4-fluorophenyl)-2-(4-methylsulfinylphenyl)-5-(4-pyridyl)1H-imidazole] (SB 203580), inhibited PLL-AGE-induced cylooxygenase-2 expression, while the Ras inhibitor, FPT inhibitor II, and the MAP kinase kinase inhibitor, (2'-amino-3'-methoxyflavone) (PD 98059), had no effect on PLL-AGE-induced cylooxygenase-2 expression. Incubation of RAW 264.7 cells with PLL-AGEs resulted in activation of p38 MAPK, and this activation was suppressed by genistein and SB 203580. Taken together, our results suggest that activation of protein tyrosine kinase and p38 MAPK is involved in AGE-induced cyclooxygenase-2 expression in RAW 264.7 macrophages.

A simple high-performance liquid chromatographic method for the determination of brazilin and its application to a pharmacokinetic study in rats.

ETHNOPHARMACOLOGICAL RELEVANCE: Caesalpinia sappan is a medicinal plant native to China popularly used to treat chronic pelvic inflammation, dysmenorrhea and hysteromyoma. Its main bioactive component is brazilin which had presented antibacterial, anti-inflammatory and anti-platelet aggregation activities. To establish a sensitive, selective, reproducible, and accurate high performance liquid chromatographic (HPLC) method for the quantitative determination of brazilin in plasma, and study the pharmacokinetics of brazilin in rats after intravenous administration of brazilin. MATERIALS AND METHODS: Rats received intravenous injection of 25, 50 and 100mg/kg of brazilin. Concentrations of brazilin in plasma were determined by HPLC method at different time points and all pharmacokinetic parameters were estimated by non-compartmental analysis with WinNonLin 6.2 software. RESULTS: After single intravenous doses of 25, 50 and 100mg/kg brazilin in rats, the main PK parameters were as follows: Cmax were 18.1 ± 4.1, 46.7 ± 8.7 and 82.2 ± 9.6 µg/mL; AUC0-24 were 20.4 ± 4.3, 48.7 ± 6.8 and 90.4 ± 10.3 µgh/mL; and t1/2 were 5.4 ± 1.5, 5.8 ± 0.9 and 6.2 ± 1.2h, respectively. CONCLUSION: It showed that the brazilin was eliminated moderately in rat by intravenous injection route with t1/2 of 6h and showed a dose-dependence profile of Cmax and AUC0-24 at the doses of 25~100mg/kg of brazilin for injection in rats.

Online teaching tool simplifies faculty use of multimedia and improves student interest and knowledge in science.

Digital technologies can improve student interest and knowledge in science. However, researching the vast number of websites devoted to science education and integrating them into undergraduate curricula is time-consuming. We developed an Adobe ColdFusion- and Adobe Flash-based system for simplifying the construction, use, and delivery of electronic educational materials in science. The Online Multimedia Teaching Tool (OMTT) in Neuroscience was constructed from a ColdFusion-based online interface, which reduced the need for programming skills and the time for curriculum development. The OMTT in Neuroscience was used by faculty to enhance their lectures in existing curricula. Students had unlimited online access to encourage user-centered exploration. We found the OMTT was rapidly adapted by multiple professors, and its use by undergraduate students was consistent with the interpretation that the OMTT improved performance on exams and increased interest in the field of neuroscience.

Diplectanids infesting the gills of the barramundi Lates calcarifer (Bloch) (Perciformes: Centropomidae), with the proposal of Laticola n. g. (Monogenoidea: Diplectanidae).

Four species of the Monogenoidea, Laticola lingaoensis n. sp., L. latesi (Tripathi, 1957) n. comb. [previously Pseudorhabdosynochus latesi (Tripathi, 1957) Kritsky & Beverley-Burton, 1986], L. paralatesi (Nagibina, 1976) n. comb. [previously Diplectanum paralatesi Nagibina, 1976] and Diplectanum penangi Liang & Leong, 1991, are reported from the gills of Lates calcarifer (Centropomidae) from the South China Sea (new geographical records for L. latesi and D. penangi). Collections from off Bathurst Island, Northern Territory, Australia, represent a new geographic record for L. paralatesi; Chilka Lake, Orissa, India, is established as the type-locality for L. latesi. Laticola n. g. (Diplectanidae) is proposed for species with a spoon-shaped copulatory organ with two to four concentric incomplete ridges in the base. Laticola lingaoensis, the type-species of Laticola, is described, and L. latesi and L. paralatesi are redescribed based on specimens from the South China Sea. Pseudorhabdosynochus monosquamodiscusi Balasuriya & Leong, 1995 and Pseudorhabdosynochus yangjiangenesis Wu & Li, 2005 are considered junior subjective synonyms of L. latesi and L. paralatesi, respectively.

Revision of Allobenedenia Yamaguti, 1963 (Monogenoidea: Capsalidae) with the description of A. zhangi n. sp. from Epinephelus fasciatus (Teleostei: Serranidae) in the South China Sea.

Allobenedenia Yamaguti, 1963 is revised to include capsalid species with five radial septa in the haptor. Megalocotyloides Bychowsky & Nagibina, 1967 and Allosprostonia Lawler & Hargis, 1968 are considered junior synonyms of Allobenedenia. Eight described species comprise the genus: A. convoluta (Yamaguti, 1937) Yamaguti, 1963 (type-species), A. epinepheli (Bychowsky & Nagibina, 1967) n. comb., A. patagonica (Evdokimova, 1969) n. comb., A. pedunculata Raju & Rao, 1980, A. pseudomarginata (Bravo-Hollis, 1958) n. comb., A. sebastodi (Egorova, 1994) n. comb., A. yamagutii (Egorova, 1994) n. comb. and A. zhangi n. sp. A. ishikawae (Goto, 1894) Yamaguti, 1963 is considered a species inquirenda; Megalocotyloides hongkongensis Wu, Lu & Woo, 2002 is placed in synonymy with A. yamagutii; M. grandiloba (Paperna & Kohn, 1964) Egorova & Aleshkina, 1984 is provisionally returned to Megalocotyle as M. grandiloba Paperna & Kohn, 1964; and specimens identified as M. grandiloba from Serranus cabrilla (Serranidae) by Buhrnheim et al. (1973) are considered an undescribed species of Allobenedenia. A. zhangi n. sp. is described from the external surface of Epinephelus fasciatus (Serranidae) of Allobenedenia. A. zhangi n. sp. is described from the external surface of Epinephelus fasciatus (Serranidae) in the South China Sea and is characterised by having an elongtate proximally uncoiled male copulatory organ extending to near the level of the anterior margin of the ovary, a large prostatic reservoir apparently external to the male copulatory canal, and a submedial protuberance on the dorsal surface of the accessory sclerite of the haptor.