A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family

Purpose: To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). Methods: It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were determined by sequencing PCR products. Results: We identified a previously unreported 4 bp deletion in FRMD7 (c.1486-1489 del TTTT) in a Chinese family. The mutation co-segregated with the disease phenotype in patients and female carriers, while it was not detected in other relatives or in the 100 normal controls. Conclusions: Our results expand the spectrum of FRMD7 mutations causing ICN, and further confirm the role of FRMD7 in the pathogenesis of ICN. Direct sequencing of FRMD7 could be used as a diagnostic testing of idiopathic congenital nystagmus.Biochemistry & Molecular BiologyOphthalmologySCI(E)PubMed4ARTICLE297-992765-27681

A New Form of the Polarimetric Notch Filter

Ship detection using polarimetric synthetic radar (PolSAR) imagery attracts a lot of attention in recent years. Most notably, the detector polarimetric notch filter (PNF) has been demonstrated to be effective for ship detection in PolSAR imagery, which gives excellent performances. In this work, a mathematical form of one new PNF (NPNF) based on physical mechanisms of targets and clutter is further developed for partial targets. The different mechanisms have been revealed based on the projection matrix. The experimental results including simulated and measured data demonstrate that the NPNF exhibits a better performance than the original PNF

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

Purpose: Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods: It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was dertermined with an ABI 3100 Genetic Analyzer. Results: A previously unreported the missense mutation G214S (caused by a 640 A -> G heterozygous change) in FBN1 was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected in their relatives or in the 100 normal controls. Conclusions: This is the first report of molecular characterization of FBN1 in the MFS family of Chinese origin. Our results expand the spectrum of FBN1 mutations causing MFS and further confirm the role of FBN1 in the pathogenesis of MFS. Direct sequencing of the mutation in FBN1 may be used for diagnosis of MFS.http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000301238300001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701Biochemistry & Molecular BiologyOphthalmologySCI(E)PubMed10ARTICLE10-1181-861

Regression of Gastric Cancer by Systemic Injection of RNA Nanoparticles Carrying Both Ligand and siRNA

Gastric cancer is the second leading cause of cancer-related death worldwide. RNA nanotechnology has recently emerged as an important field due to recent finding of its high thermodynamic stability, favorable and distinctive in vivo attributes. Here we reported the use of the thermostable three-way junction (3WJ) of bacteriophage phi29 motor pRNA to escort folic acid, a fluorescent image marker and BRCAA1 siRNA for targeting, imaging, delivery, gene silencing and regression of gastric cancer in animal models. In vitro assay revealed that the RNA nanoparticles specifically bind to gastric cancer cells, and knock-down the BRCAA1 gene. Apoptosis of gastric cancer cells was observed. Animal trials confirmed that these RNA nanoparticles could be used to image gastric cancer in vivo, while showing little accumulation in crucial organs and tissues. The volume of gastric tumors noticeably decreased during the course of treatment. No damage to important organs by RNA nanoparticles was detectible. All the results indicated that this novel RNA nanotechnology can overcome conventional cancer therapeutic limitations and opens new opportunities for specific delivery of therapeutics to stomach cancer without damaging normal cells and tissues, reduce the toxicity and side effect, improve the therapeutic effect, and exhibit great potential in clinical tumor therapy

Pathological Features of Enterovirus 71-Associated Brain and Lung Damage in Mice Based on Quantitative Proteomic Analysis

The outbreaks of enterovirus 71 (EV71)-associated hand, foot, and mouth disease (HFMD) have emerged as an emergency of global health due to its association with fatal encephalitis and subsequent neurogenic pulmonary edema; however, the molecular characteristics and pathological features underlying EV71-associated encephalitis and pulmonary edema remain largely unknown. In this study, we performed a proteomic analysis of fresh brain and lung tissues from EV71-infected mice at 7 days post infection. We detected a perturbed expression of 148 proteins in the brain and 78 proteins in the lung after EV71 expression. Further analysis showed that the dysregulated proteins in the brain are involved in a variety of fundamental biological pathways, including complement and coagulation cascades, innate and adaptive immune responses, platelet activation, and nitrogen metabolism, and those proteins in the lung participate in innate and adaptive immune responses, phagosome, arginine biosynthesis, and hypoxia-inducible factor 1 signaling pathway. Our results suggested that immune activation, complement and coagulation dysfunction, platelet activation, imbalance of nitrogen metabolism, and hypoxia could be involved in the pathogenesis of EV71, which explains the major clinical manifestation of hyperinflammatory status of severe HFMD cases. Our study provides further understanding of the molecular basis of EV71 pathogenesis

Microbial Intervention as a Novel Target in Treatment of Non-Alcoholic Fatty Liver Disease Progression

Background/Aims: Emerging evidence suggests a close link between gut microbiota and non-alcoholic fatty liver disease (NAFLD). In this study, we aimed to investigate the association between gut microbiota and the DNA methylation of adiponectin (an adipocyte-specific adipocytokine) in rats, following diet-induced NAFLD. Methods: 50 male SD rats were randomly divided into five groups with or without a high fat diet (HFD), antibiotics, and probiotics, in order to establish an imbalanced gut microbiota and probiotic treatment model in NAFLD rats. After 13 weeks of treatment, blood, liver, and cecal tissue samples were collected. Serum lipids, liver function indexes by biochemical analyzers, and changes in liver pathology with hematoxylin-eosin (HE) and masson staining were detected. Furthermore, the serum adiponectin by enzyme-linked immunosorbent assay (ELISA) and liver adiponectin methylation levels in the promoter regions by pyrophosphate sequencing were determined. High throughput Illumina sequencing targeted microbial 16S genes, bioinformatics and statistical analysis identified cecal-associated gut microbiota. Results: HFD with antibiotic exposure showed the most severe steatohepatitis and a severe gut microbiota alteration. Reduced bacterial diversity was also seen and the abundances of Firmicutes, Lactobacillus, Cyanobacteria, Acidobacteria, Chlamydiae, Chlamydiales, Rubrobacteria, Verrucomicrobia, Blautia, Shewanella, Bacteroides, Bacteroides acidifaciens, and Bacteroides uniformis, were shown to be partly reversed by probiotic treatment. Decreased serum adiponectin levels and increased DNA methylation levels of adiponectin promoter regions were also markedly associated with the NAFLD progression during gut microbiota alteration. Conclusion: Our results suggested that both gut microbiota alteration and adiponectin variability may be drivers of NAFLD progression and that targeting the gut microbiota, such as via administration of a probiotic, may delay NAFLD progression via adiponectin

A Color Restoration Algorithm for Diffractive Optical Images of Membrane Camera

In order to verify the technology of the membrane diffractive imaging system for Chinese next generation geo-stationary earth orbit (GEO) satellite, a series of ground experiments have been carried out using a membrane optical camera with 80 mm aperture (Φ80) lens. The inherent chromatic aberration due to diffractive imaging appears in the obtained data. To address the issue, an effective color restoration algorithm framework by matching, tailoring, and non-linearly stretching the image histograms is proposed in this letter. Experimental results show the proposed approach has good performances in color restoration of the diffractive optical images than previous methods. The effectiveness and robustness of the algorithm are also quantitatively assessed using various color deviation indexes. The results indicate that the chromatic aberration of diffractive images can be effectively removed by about 85%. Also, the proposed method presents reasonable computational efficiency

A Color Restoration Algorithm for Diffractive Optical Images of Membrane Camera

In order to verify the technology of the membrane diffractive imaging system for Chinese next generation geo-stationary earth orbit (GEO) satellite, a series of ground experiments have been carried out using a membrane optical camera with 80 mm aperture (Φ80) lens. The inherent chromatic aberration due to diffractive imaging appears in the obtained data. To address the issue, an effective color restoration algorithm framework by matching, tailoring, and non-linearly stretching the image histograms is proposed in this letter. Experimental results show the proposed approach has good performances in color restoration of the diffractive optical images than previous methods. The effectiveness and robustness of the algorithm are also quantitatively assessed using various color deviation indexes. The results indicate that the chromatic aberration of diffractive images can be effectively removed by about 85%. Also, the proposed method presents reasonable computational efficiency

Key Technologies and Economic Analysis of Decentralized Wind Power Consumption: A Case Study in B City, China

Wind power technology is developing rapidly in China. Especially in the north of China, decentralized wind power (DWP) has developed rapidly. However, wind curtailment exceeds 4% of the gross generation, which has become an important obstacle restricting the development of DWP in 2019. Technical schemes are effective solutions to promote decentralized wind power consumption (DWPC). Moreover, there are few economic analyses of DWP projects with key technologies. This paper summarizes the typical technical schemes and analyzes the economy of a DWP grid-connected project with typical technical schemes by combining methods of the net present value (NPV) and real options (RO). It appears that the DWP project can be profitable with an NPV of about CNY 4.3721 million and an option value of CNY 16.6022 million in the case of a feed-in tariff of 0.34 CNY/kWh. Feed-in tariff and equipment investment costs are the most relevant parameters for economic feasibility according to the sensitivity analysis. Furthermore, 30.73 million kWh connects to the Mengxi grid each year. The project has an annual maximum CO2 emission reduction of about 31 thousand tons and an SO2 of about 0.1 thousand tons. In addition, it also realizes fine social benefits, including the support of local residents and the improvement of local new urbanization levels. Finally, this paper puts forward policy suggestions for the development of DWP mainly from an economic point of view