Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene

Purpose: To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene. Methods: Complete ophthalmic examinations were carried out in 29 affected males (12 probands), 38 heterozygous females carriers, and 100 controls. The coding regions of the RS1 gene that encodes retinoschisin were amplified by polymerase chain reaction and directly sequenced. Results: Of the 29 male participants, 28 (96.6%) displayed typical foveal schisis. Eleven different RS1 mutations were identified in 12 families; four of these mutations, two frameshift mutations (26 del T of exon 1 and 488 del G of exon 5), and two missense mutations (Asp145His and Arg156Gly) of exon 5, had not been previously described. One non-disease-related polymorphism (NSP): 576C to T (Pro192Pro) change was also newly reported herein. We compared genotypes and observed more severe clinical features in families with the following mutations: frameshift mutation (26 del T) of exon 1, the splice donor site mutation (IVS1+2T to C),or Arg102Gln, Arg209His, and Arg213Gln mutations. Conclusions: Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. The wide variability in the phenotype in Chinese patients with XLRS and different mutations in the RS1 gene is described. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.Biochemistry & Molecular BiologyOphthalmologySCI(E)PubMed12ARTICLE88804-8121

Design of gate-tunable graphene electro-optical reflectors based on an optical slot-antenna coupled cavity

The unique properties of graphene offer an exciting opportunity towards tunable photonic surfaces for flexible devices. In this paper, we design a gate-tunable, free-space graphene electro-optical reflector based on cavity resonator structures. We firstly calculate the graphene refractive index n and k as a function of Fermi level and external gating voltage. Then, we designed the structure of the single-layer graphene reflective resonator by carefully selecting suitable materials and device parameters to maximize the reflectance differences before and after electro-optical tuning. We also developed a theoretical model to discuss this system based on the optical transition matrix method. Moreover, we used field enhancement to further increase the reflectance differences by incorporating Sn nanodots based optical slot-antenna coupled cavities. The maximum broadband, incident angle insensitive reflectance differences could reach 28% with an extinction ratio of 1.62 dB at a low insertion loss of 0.45 dB, and the spectral range is tunable by changing the optical cavity length. We also used an indium tin oxide layer as part of the optical cavity and the electrode simultaneously to reduce the voltage applied. To our best knowledge, this work is the first one on tunable two-dimensional (2D) material reflectors for free-space applications, apart from using liquid crystals or magnetic metasurfaces. This new design of tunable 2D electro-optical reflectors also reduces the complexity of fabrication steps, having promising applications in tunable flexible photonic surfaces and devices for variable optical attenuators and light detection and ranging systems

Few-femtosecond Electron Beam with THz-frequency Wakefield-driven Compression

We propose and demonstrate a novel method to produce few-femtosecond electron beam with relatively low timing jitter. In this method a relativistic electron beam is compressed from about 150 fs (rms) to about 7 fs (rms, upper limit) with the wakefield at THz frequency produced by a leading drive beam in a dielectric tube. By imprinting the energy chirp in a passive way, we demonstrate through laser-driven THz streaking technique that no additional timing jitter with respect to an external laser is introduced in this bunch compression process, a prominent advantage over the conventional method using radio-frequency bunchers. We expect that this passive bunching technique may enable new opportunities in many ultrashort-beam based advanced applications such as ultrafast electron diffraction and plasma wakefield acceleration.Comment: 5 pages, 4 figure

Sensitivity of simulated crop yield and nitrate leaching of the wheat-maize cropping system in the North China Plain to model parameters

Process-based crop simulation models are often over-parameterised and are therefore difficult to calibrate properly. Following this rationale, the Morris screening sensitivity method was carried out on the DAISY model to identify the most influential input parameters operating on selected model outputs, i.e. crop yield, grain nitrogen (N), evapotranspiration and N leaching. The results obtained refer to the winter wheat-summer maize cropping system in the North China Plain. In this study, four different N fertiliser treatments over six years were considered based on a randomised field experiment at Luancheng Experimental Station to elucidate the impact of weather and nitrogen inputs on model sensitivity. A total of 128 parameters were considered for the sensitivity analysis. The ratios [output changes/parameter increments] demonstrated high standard deviations for the most relevant parameters, indicating high parameter non-linearity/interactions. In general, about 34 parameters influenced the outputs of the DAISY model for both crops. The most influential parameters depended on the output considered with sensitivity patterns consistent with the expected dominant processes. Interestingly, some parameters related to the previous crop were found to affect output variables of the following crop, illustrating the importance of considering crop sequences for model calibration. The developed RDAISY toolbox used in this study can serve as a basis for following sensitivity analysis of the DAISY model, thus enabling the selection of the most influential parameters to be considered with model calibration

Extracellular histones cause intestinal epithelium injury and disrupt its barrier function in vitro and in vivo.

Extracellular histones are cytotoxic to various cells and have been extensively proven a vital mediator of multiple organ injuries. However, the effect of extracellular histones on the intestine remains largely unknown. This study aimed to clarify the effect of extracellular histones on the intestine. IEC-6, a cell line of rat small intestinal epithelial crypt, and C57BL/6 or ICR mice were treated with histones. The IEC-6 cells treated with histones from 20 μg/mL to 200 μg/mL for 0-24 h displayed a decline of cell viability and an increase of cell death in a concentration- and time-dependent manner. Moreover, histones (100 μg/mL) induced IEC-6 apoptosis through activating caspase 3 and necroptosis through up-regulation of receptor-interacting serine/threonine protein kinase 1 and 3 (RIPK1 and RIPK3), phosphorylated mixed-lineage kinase domain-like protein (p-MLKL) along with the decrease of caspase-8. Histones treatment disturbed zonular occludens 1 (ZO-1) expression and increased permeability of IEC-6 cell monolayer. In vivo, histones 50 mg/kg injection caused mice intestinal edema, loss apex of villus, epithelial lifting down the sides of the villi, and increased neutrophil infiltration. Elevation of serum intestinal fatty acid binding protein (I-FABP), d-lactate, or Diamine oxidase (DAO) and loss of tight junction protein, ZO-1, at 3 h and 6 h after histones injection strongly indicated severe intestinal epithelium injury, which led to increased permeability of the intestine. In conclusion, extracellular histones cause intestinal epithelial damage via direct cytotoxicity. Consequently, intestinal epithelial tight junction and barrier integrity are disrupted, which may play pivotal roles in diverse diseases

Fault-Tolerant Control for Actuator Faults of Wind Energy Conversion System

The problem of robust fault-tolerant control for actuators of nonlinear systems with uncertain parameters is studied in this paper. Takagi–Sugeno (T-S) fuzzy model is used to describe the wind energy conversion system (WECS). Fuzzy dedicated observer (FDO) and fuzzy proportional integral observer (FPIO) are established to reconstruct the system state and actuator fault, respectively. Fuzzy Robust Scheduling Fault-Tolerant Controller (FRSFTC) is designed by parallel distributed compensation (PDC) method, so as to realize the purpose of active fault tolerance for actuator faults and ensure the robust stability of the system. The stability of the closed-loop system is proved by Taylor series, Lyapunov function, and Linear Matrix Inequalities (LMIs). Finally, the simulation results verify that the proposed method is feasible and effective applied to WECS with doubly fed induction generators (DFIG)