SPEN基因变异致Radio-Tartaglia综合征一例报告并文献复习

目的分析Radio-Tartaglia综合征(OMIM#619312)的临床表现及遗传学特征。方法回顾分析1例确诊为Radio-Tartaglia综合征患儿(OMIM#619312)的临床和分子遗传学检测资料。并以“Radio-Tartaglia syndrome”或“Radio-Tartaglia综合征”或“SPEN gene”或“SPEN基因”为关键词在PUBMED、万方数据库、维普检索平台进行文献复习。结果患儿,男,4岁,主要表现为全面发育迟缓,语言延迟。头围较小,窄额头,高低眉,睑裂倾斜,高弓腭。全外显子基因测序显示患儿SPEN基因(Chr1:15932638)新发(De novo)可解释患者表型的致病性变异NM_015001.3:exon11:c.6398T>A(p.Leu2133*),结合临床表现和基因检测结果,确诊为Radio-Tartaglia综合征。检索到相关文献16篇,SPEN变异88例,涉及错位变异、缺失变异、重复变异和插入变异。结论本例研究发现了Radio-Tartaglia综合征的新的SPEN基因变异点c.6398T>A(p.Leu2133*)。临床诊疗中,全身发育迟缓伴有智力障碍、言语迟缓和各种行为异常伴颅面部畸形的情况,可考虑此病,应建议家属早日进行基因检测以明确诊断,以便及时进行多学科综合干预,以促进患儿全面发育。

Congenital Bilateral Proximal Radio-Ulnar Synostosis in a Nigerian Child

Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries.

煤矿井下基于虚拟Radio-map及Markov链的定位算法

为了在煤矿井下获得更高的定位精度,提出一种基于虚拟Radio-map及Markov链的定位方法。结合井下复杂环境,采用信道衰减模型及线性插值法实现了动态衰减因子,建立虚拟Radio-map的同时降低了工作量;考虑到每处采样点接收信号强度分布先验假设和统计特征,在线阶段采用基于贝叶斯准则框架的加权核函数算法,为每个样本数据赋予一个以自身为"核心"的函数,构建的概率密度分布避免了确定模型带来的误差,从而提高了定位精度;为进一步优化定位结果,考虑先验概率对贝叶斯后验概率的影响,提出了基于高斯模型的Markov链定位算法,抑制了运动目标位置的大幅度跳变,使目标定位更加精确。实验表明,所提算法可以通过较低数据采集工作量达到一定的定位精度,满足井下目标定位需求。

Designing shielded radio-frequency phased-array coils for magnetic resonance imaging

In this paper, an approach to the design of shielded radio-frequency （RF） phased-array coils for magnetic resonance imaging （MRI） is proposed. The target field method is used to find current densities distributed on primary and shield coils. The stream function technique is used to discretize current densities and to obtain the winding patterns of the coils. The corresponding highly ill-conditioned integral equation is solved by the Tikhonov regularization with a penalty function related to the minimum curvature. To balance the simplicity and smoothness with the homogeneity of the magnetic field of the coll＇s winding pattern, the selection of a penalty factor is discussed in detail.

Numerical research of a 2D axial symmetry hybrid model for the radio-frequency ion thruster

Since the high efficiency discharge is critical to the radio-frequency ion thruster(RIT), a 2D axial symmetry hybrid model has been developed to study the plasma evolution of RIT. The fluid method and the drift energy correction of the electron energy distribution function(EEDF) are applied to the analysis of the RIT discharge. In the meantime, the PIC-MCC method is used to investigate the ion beam current extraction character for the plasma plume region. The beam current simulation results, with the hybrid model, agree well with the experimental results, and the error is lower than 11%, which shows the validity of the model. The further study shows there is an optimal ratio for the radio-frequency(RF) power and the beam current extraction power under the fixed RIT configuration. And the beam extraction efficiency will decrease when the discharge efficiency beyond a certain threshold(about 87 W). As the input parameters of the hybrid model are all the design values, it can be directly used to the optimum design for other kinds of RITs and radio-frequency ion sources.

Numerical study on characteristics of radio-frequency discharge at atmospheric pressure in argon with small admixtures of oxygen

In this paper, a 1D fluid model is developed to study the characteristics of a discharge in argon with small admixtures of oxygen at atmospheric pressure. This model consists of a series of equations, including continuity equations for electrons, positive ions, negative ions and neutral particles, the energy equation, and the Poisson equation for electric potential. Special attention has been paid to the electron energy dissipation and the mechanisms of electron heating, while the admixture of oxygen is in the range of 0.1%-0.6%. It is found that when the oxygen-to-argon ratio grows, the discharge is obviously divided into three stages： electron growth, electron reduction and the electron remaining unchanged. Furthermore, the cycle-averaged electric field, electron temperature, electron Ohmic heating, electron collisionless heating, electron energy dissipation and the net electron production are also studied in detail, and when the oxygen-to- argon ratio is relatively larger （R = 0.6%）, double value peaks of electron Ohmic heating appear in the sheath. According to the results of the numerical simulation, various oxygen-to-argon ratios result in different amounts of electron energy dissipation and electron heating.

Applications of cold atmospheric plasmas(CAPs)in agriculture:a brief review and the novel development of a radio-frequency CAP jet generator for plant mutation

Cold atmospheric plasmas(CAPs)have shown great applicability in agriculture.Many kinds of CAP sources have been studied in agricultural applications to promote plant growth and cure plant diseases.We briefly review the state-of-the-art stimulating effects of atmospheric-pressure dielectricbarrier-discharge(AP-DBD)plasmas,after the direct or indirect treatment of plants for growth promotion and disease control.We then discuss the special demands on the characteristics of the CAP sources for their applications in plant mutation breeding.An atmospheric and room temperature plasma(ARTP)jet generator with a large plasma irradiation area,a high enough concentration of chemically reactive species and a low gas temperature is designed for direct plant mutagenesis.Experimental measurements of the electrical,thermal and optical features of the ARTP generator are conducted.Then,an ARTP-P(ARTP for plant mutagenesis)mutation breeding machine is developed,and a typical case of plant mutation breeding by the ARTP-P mutation machine is presented using Coreopsis tinctoria Nutt.seeds.Physical and agricultural experiments show that the newly-developed ARTP-P mutation breeding machine with a large irradiation area can generate uniform CAP jets with high concentrations of chemically reactive species and mild gas temperatures,and have signiflcant mutagenesis effects on the Coreopsis tinctoria Nutt.seeds.The ARTP-P mutation breeding machine may provide a platform for systematic studies on mutation mechanisms and results for various plant seeds under different operating conditions in future research.

Hemodynamic changes in hepatic cancer before and after cluster electrode radio-frequency ablation

Objective: To evaluate the hemodynamic changes of hepatic artery (HA), portal vein (PV) and tumors in hepatic cancer patients treated by cluster electrode radio-frequency ablation with the aid of color Doppler flow imaging (CDFI). Methods: The hemodynamic changes of HA, PV and 42 tumors in 30 cases of hepatic cancer were investi- gated by CDFI one week before and after cluster e- lectrode radio-frequency ablation. Results: One week after radio-frequency ablation, the velocity of HA decreased (P<0.05), but the dia- meter and velocity of PV unchanged. Before radio- frequency ablation, blood signals were observed in 35 cancer nodes (83.0 % of all 42 nodes). After radio- frequency ablation, blood signals were reduced in 15 nodes and disappeared in 14 nodes. Early investiga- tion implied that the decrease of blood supply was parallel with the reduction of node size. However, the outcome in case of huge nodes with double blood supply was not as promising as those small nodes. Conclusion: CDFI is useful to assess blood supply in ablation of hepatic cancer by using cluster electrode radio-frequency therapy.

Preparation of Indium Tin Oxide Films on Polycarbonate substrates by Radio-frequency Magnetron Sputtering

Indium tin oxide（ITO）thin films（100±10nm）were deposited on PC（polycarbonate）and glass substrates by rf（radio-frequency）mannetron spuutering.The oxygen content of the ITO films was changed by variation of the sputtering gas composition.All the other deposition parameters were kept constant.The sheet resistance.optical transmittance and microstructure of ITO films were investigated using a four-point probe.spectrophotometer,X-ray diffractometer（XRD）and atomic force microscope（AFM）.Sheet resistances for the ITO films with optical transmittance more than 75% on PC substrates varied from 40Ω/cm^2 to more than 104 Ω/cm^2 with increasing oxygen partial pressure from O to about 2%.The same tendeney of sheet resistances increasing with increasing oxygen partial pressure was observed on glass substrates.The X-ray diffraction data indicated polycrystalline filns with grain orientations predominantly along（440）and （422）directions.The intensities of （440）and （422）peaks increased slightly with the increase of oxygen partial pressure both on PC and glass substrates.The AFM images show that the ITO films on PC substrates were dense and uniform.The average grain size of the films was about 40nm.

Simulation of radio-frequency atmospheric pressure glow discharge in γ mode

The existence of two diffe1：ent discharge modes has been verified in an rf （radio-frequency） atmospheric pressure glow discharge （APGD） by Shi [J. Appl. Phys. 97, 023306 （2005）]. In the first mode, referred to as a mode, the discharge current density is relatively low and the bulk plasma electrons acquire the energy due to the sheath expansion. In the second mode, termed γ mode, the discharge current density is relatively high, the secondary electrons emitted by cathodc under ion bombardment in the cathode sheath region play an important role in sustaining the discharge. In this paper, a one-dimensional self-consistent fluid model for rf APGDs is used to simulate the discharge mechanisms in the mode in helium discharge between two parallel metallic planar electrodes. The results show that as the applied voltage increases, the discharge current becomes greater and the plasma density correspondingly increases, consequentially the discharge transits from the a mode into the γ mode. The high collisionality of the APGD plasma results in significant drop of discharge potential across the sheath region, and the electron Joule heating and the electron collisional energy loss reach their maxima in the region. The validity of the simulation is checked with the available experimental and numerical data.

Rydberg electromagnetically induced transparency and Autler–Townes splitting in a weak radio-frequency electric field

We utilize an electromagnetically induced transparency(EIT) of a three-level cascade system involving Rydberg state in a room-temperature cell, formed with a cesium 6 S_(1/2)–6 P_(3/2)–66 S_(1/2) scheme, to investigate the Autler–Townes(AT)splitting resulting from a 15.21-GHz radio-frequency(RF) field that couples the |66 S_(1/2) → |65 P_(1/2) Rydberg transition.The radio-frequency electric field induced AT splitting, γAT, is defined as the peak-to-peak distance of an EIT-AT spectrum.The dependence of AT splitting γAT on the probe and coupling Rabi frequency, ?_p and ?_c, is investigated. It is found that the EIT-AT splitting strongly depends on the EIT linewidth that is related to the probe and coupling Rabi frequency in a weak RF-field regime. Using a narrow linewidth EIT spectrum would decrease the uncertainty of the RF field measurements.This work provides new experimental evidence for the theoretical framework in [J. Appl. Phys. 121, 233106(2017)].

Comparison of Hsps Expression after Radio-frequency Field Exposure in Three Human Glioma Cell Lines

Objective To investigate and compare the effect of radio-frequency （RF） field exposure on expression of heat shock proteins （Hsps） in three human glioma cell lines （MO54, A172, and T98）. Methods Cells were exposed to sham or 1950 MHz continuous-wave for 1 h. Specific absorption rates （SARs） were 1 and 10 W/kg. Localization and expression of Hsp27 and phosphorylated Hsp27 （（78） Ser） （p-Hsp27） were examined by immunocytochemistry. Expression levels of Hsp27, p-Hs27, and Hsp70 were determined by Western blotting. Results The Hsp27 was primarily located within the cytoplasm, p-Hsp27 in both cytoplasm and nuclei of MO54, A172, and T98 cells. RF field exposure did not affect the distribution or expression of Hsp27. In addition, Western blotting showed no significant differences in protein expression of Hsp27 or HspT0 between sham- and RF field-exposed cells at a SAR of 1 W/kg and 10 W/kg for 1 h in three cells lines. Exposure to RF field at a SAR of 10 W/kg for 1 h slightly decreased the protein level of phosphorylated Hsp27 in MO54 cells. Conclusion The 1950 MHz RF field has only little or no apparent effect on Hsp70 and Hsp27 expression in MO54, A172, and T98 cells.

一种改进的数字Ultra-Wide Bandwidth Radio-on-Fiber系统模型的性能分析

为了充分利用超宽带的特点,对数字光载无线系统进行了改进,并给出了系统模型.理论分析和仿真结果表明,跳时序列构造不同,系统性能(信噪比)也不同;相同构造下,激活用户数不同引起的时隙平均干扰也不同.这种改进使得数字光载无线系统降低了复杂度,提高了光纤利用率,同时也改善了系统的性能.

Optimization of Maturation of Radio-Cephalic Arteriovenous Fistula Using a Model Relating Energy Loss Rate and Vascular Geometric Parameters

The main reason for the early failure of radio-cephalic arteriovenous fistula (RCAVF) is non-maturity, which means that the blood flow rate in the fistula cannot increase to the expected value for dialysis. From a mechanical perspective, the vascular resistance at the artificially designed anastomosis causes an energy loss that affects blood flow rate growth and leads to early failure. This research studied how to maximize the RCAVF maturity and primary patency by controlling the energy loss rate. We theoretically analyzed and derived a model that evaluates the energy loss rate Eavf in RCAVF as a function of its blood vessel geometric parameters (GPs) for given flow rates. There was an aggregate of five controllable GPs in RCAVF: radial artery diameter (Dra), cephalic vein diameter (Dcv), blood vessel distance between artery and vein (h), anastomotic diameter (Da), and anastomotic angle (θ). Through this analysis, it was found that Eavf was inversely proportional to Dra, Dcv, Da, and θ, whereas proportional to h. Therefore, we recommended surgeons choose the vessels with large diameters, close distance, and increase the diameter and angle of the anastomosis to decrease the early failure of RCAVF. Simultaneously, we could explain the results of many clinical empiricisms with our formula. We found that increasing Dcv and θ was more significant in reducing Eavf than increasing Dra and Da. Based on our model, we could define two critical energy loss rates (CELa, CELb) to help surgeons evaluate the blood vessels and choose the ideal range of θ, and help them design the preoperative RCAVF plan for each patient to increase the maturity and the primary patency of RCAVF.

Preparation and Characterization of Transparent Conductive Zinc Doped Tin Oxide Thin Films Prepared by Radio-frequency Magnetron Sputtering

High transparent and conductive thin films of zinc doped tin oxide （ZTO） were deposited on quartz substrates by the radio-frequency （RF） magnetron sputtering using a 12 wt% ZnO doped with 88 wt% SnO2 ceramic target.The effect of substrate temperature on the structural,electrical and optical performances of ZTO films has been studied.X-ray diffraction （XRD） results show that ZTO films possess tetragonal rutile structure with the preferred orientation of （101）.The surface morphology and roughness of the films was investigated by the atomic force microscope （AFM）.The electrical characteristic （including carrier concentration,Hall mobility and resistivity） and optical transmittance were studied by the Hall tester and UV- VIS,respectively.The highest carrier concentration of -1.144×1020 cm-3 and the Hall mobility of 7.018 cm2（V ·sec）-1 for the film with an average transmittance of about 80.0% in the visible region and the lowest resistivity of 1.116×10-2 Ω·cm were obtained when the ZTO films deposited at 250 oC.

Enhanced removal of X-ray-induced carbon contamination using radio-frequency Ar/H_2 plasma

Removal of X-ray-induced carbon contamination on beamline optics was studied using radio-frequency plasma with an argon/hydrogen(Ar/H_2) mixture. Experiments demonstrated that the carbon removal rate with Ar/H_2 plasma was higher than that with pure hydrogen or argon. The possible mechanism for this enhanced removal was discussed. The key working parameters for Ar/H_2 plasma removal were determined, including the optimal vacuum pressure, gas mixing ratio, and source power. The optimal process was performed on a carbon-coated multilayer, and the reflectivity was recovered.

Energy Distribution of Ions Incident on Radio-Frequency Biased Electrodes in External Magnetic Field

A radio-frequency （rf） plasma sheath model in an oblique magnetic field is established and the energy distribution of ions （IED） incident on the rf sheath biased electrodes is numerically investigated. The simulation results reveal that the external magnetic field can have a decisive impact on the ion flux and energy distribution of the sheath. The ion energy can be transferred between the perpendicular and parallel components under the action of a magnetic field.

Ultraviolet discharges from a radio-frequency system for potential biological/chemical applications

In this work, we describe a new electrode-less radio-frequency（RF） excitation technique for generating excimers in the vacuum ultraviolet（VUV） and ultraviolet（UV） spectral regions for potential biological/chemical applications. Spectra data of Xe~＊_2, XeI~＊, and KrI~＊ generated by this new technique are presented. Optical efficiency of the lamp system ranges from 3% to 6% for KrI~＊, 7% to 13% for XeI~＊, and 15% to 20% for Xe~＊_2. Also, results of irradiating E-coli with XeI~＊discharge from this lamp system is presented to show one of the promising applications of such electrode-less apparatus.This new RF lamp system offers an interesting addition to the already existing technologies for generating VUV and UV light for various biological, physical, and chemical processes especially those requiring large area for high productivity.

Intrusion Detection System with Remote Signalling for Vehicles Using an Arduino Controller and Radio-Frequency Technology

Malicious activities or policy violations have been a concern for the past years. For example, many people have been victims of robbery on vehicles. A conceptual diagram of an Intrusion Detection System (IDS) [1] [2] for vehicles with remote signaling using an Arduino controller and radio-frequency technology is proposed in this paper. To address malicious activities on vehicles, two aspects are considered here, namely: notifier and detector. Firstly, an object-oriented C module that puts on and off a controller (installed inside the vehicle) and an anti-theft electronic editing that powered using an alternator and supported by a back-up battery are implemented. Secondly, a magnetic intrusion sensor, controlled by a proximity detector using radio-frequency technology, has been installed on each vehicle door. To enable IDS, a user needs to activate the monitoring system when leaving their vehicle. This is done using a remote system. In case the user does not activate the monitoring system while leaving the vehicle, a 5-meter-proximity detector will automatically lock the system and set off the monitoring system whenever the user is outside the detection zone. The detection zone is a 5-meter radius area centered at the controller. Here, monitoring consists of geolocating any intruders within the detection zone. This means, if any of the vehicle doors is opened while the system is still locked, the controller will activate the vehicle alarm for a few seconds, thereafter send an SMS notification to the owner. The system automatically unlocks as soon as the proximity detector is within the detection zone. The contribution of this paper, as compared to other similar work, is to reinforce the electronic implementation of IDS.

Aerodynamic actuation characteristics of radio-frequency discharge plasma and control of supersonic flow

In this paper, aerodynamic actuation characteristics of radio-frequency(RF) discharge plasma are studied and a method is proposed for shock wave control based on RF discharge. Under the static condition, a RF diffuse glow discharge can be observed; under the supersonic inflow, the plasma is blown downstream but remains continuous and stable.Time-resolved schlieren is used for flow field visualization. It is found that RF discharge not only leads to continuous energy deposition on the electrode surface but also induces a compression wave. Under the supersonic inflow condition, a weak oblique shock wave is induced by discharge. Experimental results of the shock wave control indicate that the applied actuation can disperse the bottom structure of the ramp-induced oblique shock wave, which is also observed in the extracted shock wave structure after image processing. More importantly, this control effect can be maintained steadily due to the continuous high-frequency(MHz) discharge. Finally, correlations for schlieren images and numerical simulations are employed to further explore the flow control mechanism. It is observed that the vortex in the boundary layer increases after the application of actuation, meaning that the boundary layer in the downstream of the actuation position is thickened. This is equivalent to covering a layer of low-density smooth wall around the compression corner and on the ramp surface, thereby weakening the compressibility at the compression corner. Our results demonstrate the ability of RF plasma aerodynamic actuation to control the supersonic airflow.