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。

基于GNU Radio的软件化雷达中心机设计与实现

基于开源式软件无线电平台GNU Radio设计软件化雷达中心机架构,实现相控阵搜跟一体雷达中心机的快速开发和组件可重构。介绍了中心机接口、任务组成和工作流程,通过多线程并行处理多任务提高系统实时性,通过时序控制及优化保证仿真准确性,采用Message实现各分机通信。半实物测试表明设计的中心机满足雷达仿真要求,且能复用和重构。

Ambulatory Radio Iodine Therapy in the Management of Hyperthyroidism in Africa: African Systematic Review and Perspectives in Burkina Faso

Introduction: In hyperthyroidism, selective irradiation of the thyroid gland with radioactive iodine is a radical treatment and an alternative to surgery. The aim of this review is to assess the medium-term efficacy of outpatient treatment of hyperthyroidism with iodine-131 in Africa. Methods: We identified the studies carried out in Africa on outpatient radiation therapy between 2016 and 2020. For each article included, we noted the country concerned and the year of publication, the numbers studied, the socio-demographic characteristics of the patients, the indications for radio iodine therapy, the dose administered, the results of the hormonal dosage 6 months after radiation. Results: 13 retrospective studies were included to constitute a total population of 925 patients. The average age was 40.77 years, the sex ratio of 1/5.4 with a clear female predominance. The 3 main etiologies of hyperthyroidism justifying outpatient radio iodine therapy were Graves’ disease (55.89%), toxic multinodular goiter (22.70%) and toxic adenoma (21.40%). The average dose of iodine 131 administered per course is 13.7 mCi. No short-and medium-term complications were reported. The radio iodine therapy was effective in 86.08% (n = 796) of the patients with extremes of 72% and 100%. Conclusion: Radio iodine therapy is effective in Africa. It is simple, inexpensive on an outpatient basis and well tolerated. The introduction of outpatient radio iodine therapy could improve the management of patients with hyperthyroidism in Burkina Faso.

In Vitro Antioxidant and Radio Protective Activities of Lycopene from Tomato Extract against Radiation—Induced DNA Aberration

Background: The accumulation of free radicals is linked to a number of diseases. Free radicals can be scavenged by antioxidants and reduce their harmful effects. It is therefore essential to look for naturally occurring antioxidants that come from plants, as synthetic antioxidants are toxic, carcinogenic and problematic for the environment. Lycopene is one of the carotenoids, a pigment that dissolves in fat and has antioxidant properties. Materials and Methods: The antioxidant and free radical scavenging activity were assessed using the 2,2-diphenyl-1-picrylhydrazyl (DPPH) assay. The impact of lycopene on bacteria (E. coli) susceptibility to γ-radiation was examined by radio sensitivity assay. The study also examined the induction of strand breaks in plasmid pUC19 DNA and how lycopene extract protected the DNA from γ-radiation in vitro. Results: At varying concentrations, lycopene demonstrated its ability to scavenge free radicals such as 2, 2-diphenyl-1-picrylhydrazyl (DPPH). IC50 for lycopene was determined at 112 μg/mL which was almost partial to IC50 of standard antioxidant L-ascorbic acid. The D10 value 180 Gy of E. coli was found to be >2-fold higher in the extract-containing lycopene sample than in the extract-free controls. The lycopene extracts inhibited the radiation-induced deterioration of the plasmid pUC19 DNA. At an IC50 concentration, lycopene provided the highest level of protection. Conclusion: Lycopene functions as an efficient free radical scavenger and possible natural antioxidant source. For cancer patients and others who frequently expose themselves to radiation, lycopene may be a useful plant-based pharmaceutical product for treating a variety of diseases caused by free radicals.

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.

The Science of Radio Astronomy: An Investigation of Crab Nebula

The science of radio astronomy focuses on the observation and study of celestial objects by reading their radio waves. The 5 meter radio-telescope is able to observe different radio sources using a C-band LNB. This research was essentially focused on Crab Nebula, also known as Taurus A. The study led to interesting observations, which were validated numerically using various scientific computing software. The radio waves emitted by Taurus A are readable by the RTL-SDR, a software defined radio receiver. This device is capable of reading radio frequencies in the range of 0.5 MHZ to 1700 MHZ.

Variations of Atmospheric ELF/VLF Radio Noise Due to Seismogenic Modifications in Tropospheric Conductivity

We suggest a possible explanation of the influence of pre-seismic activity on the registration rate of natural ELF(extremely low frequency)/VLF(very low frequency) pulses and the changes of their characteristics. The main idea is as follows. The distribution of the electric field around a thundercloud depends on the conductivity profile of the atmosphere. Quasi-static electric fields of a thundercloud decrease in those tropospheric regions where an increase of air conductivity is generated by pre-seismic activities due to emanation of radioactive gas and water into the lower atmosphere. The electric field becomes reduced in the lower troposphere, and the probability decreases of the cloud-to-ground (CG) strokes in such “contaminated” areas. Simultaneously, the electric field grows inside and above the thunderclouds, and hence, we anticipate a growth in the number of horizontal and tilted inter-cloud (or intra-cloud) (both termed as IC discharges) strokes. Spatial orientation of lightning strokes reduces vertical projection of their individual amplitudes, while the rate (median number strokes per a unit time) of discharges grows. We demonstrate that channel tilt of strokes modifies the spectral content of ELF/VLF radio noise and changes the rate of detected pulses during the earthquake preparation phase.

Radio-Acoustic Study of Thunderstorms

The observation, in the past, that a thunderstorm perturbed the transmissions of an old vacuum tubes radio with noise discharges in correspondence with lightnings, suggested the possibility of radio-acoustic study of thunderstorms. The noise discharges appeared to convey not only information about lightnings, but also about any other thunderstorm electromagnetic phenomena generating noise discharges. The low-cost instrumentation involved in the radio-acoustic study, comprised a radio Telefunken mod. T33B, a 15 m long indoor wire antenna, a mobile telephone Samsung Galaxy S20 FE 5G provided with the recorder App Enregistreur vocal, a computer HP Pavillion dv5-1254eg and the s/w audio analyser Audacity. A first thunderstorm on 20 June 2023 and a second thunderstorm on 22 June 2023, both above Munich, were radio-acoustic studied. The second thunderstorm was more active than the first and released much more energy.

矿井无线电波防爆安全发射功率研究

5G,5.5G,WiFi6,WiFi7,UWB,ZigBee等矿井移动通信系统及人员和车辆定位系统等发射的大功率无线电波有点燃瓦斯和煤尘的风险。因此,需要合理设置防爆无线电设备发射的无线电波防爆安全功率阈值,限制防爆无线电设备发射的无线电波功率。欧洲标准CLC/TR 50427:2004《Assessment of inadvertent ignition of flammable atmospheres by radio-frequency radiation-Guide》规定了爆炸性气体环境中无线电波防爆安全接收点火功率阈值,但缺少无线电波防爆安全发射功率阈值的内容。国家标准GB/T 3836.1—2021《爆炸性环境第1部分:设备通用要求》和国际标准IEC 60079-0:2017《Explosive atmospheres-Part 0:Equipment-General requirements》虽然有无线电波防爆安全发射功率阈值的相关规定,但错误地将欧洲标准CLC/TR 50427:2004中的无线电波防爆安全接收点火功率阈值修改为无线电波防爆安全发射功率阈值,大大降低了爆炸性环境中无线电设备所能允许的最大发射功率。由于煤矿井下没有能作为接收天线的起重机这类细长结构物体,且现有矿井无线通信及定位系统工作频率均远大于30 MHz,所以,无线电波防爆安全接收点火功率阈值应为8 W,而不是国家标准GB/T 3836.1—2021和国际标准IEC 60079-0:2017规定的无线电波防爆安全发射功率阈值6 W。在发射天线发射的无线电波能量全部被等效天线吸收的最不利于无线电防爆的传输和耦合情况下,无线电设备工作频率为等效天线谐振频率时,接收点火功率达到最大,为等效天线接收的总功率的一半,即发射功率的一半。在实际工程中,无线传输效率和耦合效率均不会为1,因此,无线电波防爆安全发射功率阈值应是无线电波防爆安全接收点火功率阈值2倍以上。煤矿井下无线电波防爆安全接收点火功率阈值为8 W,因此,煤矿井下无线电波防爆安全发射功率阈值应大于16 W。

基于过零点斜率加窗解调的ACARS信号接收方法

飞机通信寻址与报告系统(ACARS)允许飞机和地面站之间发送和接收报文,在保障飞行安全、实现空中交通管制等方面具有重要意义。通信链路的噪声和频偏是影响ACARS信号接收性能的关键因素。针对ACARS信号接收过程中的失真等问题,深入研究频偏、噪声等因素与ACARS报文接收性能之间的关系;在充分考虑噪声与多普勒频移等因素的基础上,提出基于过零点斜率加窗解调的ACARS信号接收方法,并从理论和仿真分析2方面探讨不同方法的抗频偏抗噪声能力;设计并搭建基于软件无线电平台的ACARS信号接收系统。通过对ACARS报文接收性能的仿真分析和真实报文接收性能的对比分析,表明所提方法在提升抗噪声和频偏能力、降低误码率等方面均具有优势。

电大山区地物环境中电波传播的电磁计算

在无人驾驶与无人机等新兴行业中,信号覆盖范围的要求较高,不仅仅在城市,在人迹罕至的山地、沙漠、森林中也需要无线信号的覆盖才能真正完成远程操控,这些地区更多需要考虑的是地势变化对电磁传播所带来的影响。计算电磁学中的一致性几何绕射理论方法是分析电大环境电磁问题的有效方法,使用计算电磁学的方法研究电磁波在山区地物环境中的传播规律。给出了一种建立不规则地形模型的新方法,可以通过数字高程的网格数据生成电磁算法可用的三次多项式曲面,使用多个立方曲面对不规则地形进行拼接,使用平均均方根误差验证模型数据的准确性。基于所得的地形数据,完成了并行的几何光学算法,并对区域电磁场的分布进行了仿真计算。选取了实际山区地物环境进行了实地测量,测量结果与仿真结果对比趋势一致,验证了该方法在非规则地形中电磁波传播分析中的有效性。考虑环境电磁计算的规模,建立了相应的并行策略,100核测试的并行效率可以保持在80%以上。

A Cooperative Cognitive Radio Spectrum Sensing Based on Correlation Sum Method with Linear Equalization

For moving forward toward the next generations of information technology and wireless communication, it is becoming necessary to find new resources of spectrum to fulfill the requirements of next generations from higher data rates and more capacity. Increasing efficiency of the spectrum usage is an urgent need as an intrinsic result of the rapidly increasing number of wireless users and the conversion of voice-oriented applications to multimedia applications. Spectrum sensing techniques in cognitive radio technology work upon an optimal usage of the available spectrum determined by the Federal Communication Commission (FCC). In this paper, the performance of a cooperative cognitive radio spectrum sensing detection based on the correlation sum method by utilizing the multiuser multiple input multiple output (MU_MIMO) technique over fading and Additive White Gaussian Noise (AWGN) channel is analyzed. Equalization is used at the receiver to compensate the effect of fading channels and improve the reliability of spectrum sensing. The performance is compared with the performance of Energy detection technique. The simulation results show that the detection performance of cooperative correlation sum method is more efficient than that obtained for the cooperative Energy detection technique.

Radio Frequency Gluing Technique for Wood-to-Wood Bonding: Review

White glues, also referred to as polyvinyl acetate (PVAc) adhesives, are thermoplastics that soften when heated to a specific degree and re-harden when cooled. For general assembly tasks in the joinery business, such as edge gluing, wood veneer, and edge bonding, white glues have been used. White glue requires a prolonged setting time to achieve adequate handling strength as it solidifies through evaporation or absorption of water by the wood. Cold press and hot press techniques are used to bond wood substrates. Recently, white glue is frequently used as a wood adhesive with dielectric heating systems to prevent this and enhance production speeds. Radio frequency (RF) curing is merely a technique for heating glue lines in wood-to-wood joints. It considered a source of heat, like steam and electricity. In order to bond wood substrates with the least amount of clamping time, the RF produces a very rapid, uniform rise in temperature. In this review paper, we discussed the radio frequency curing technique, their mechanism and troubleshooting to achieve perfect wood bond in joinery segment.

Optimization of Mobile Network Radio Coverage by Automating Radio Parameter Updates Using Parsing

The present work aims is to propose a solution for automating updates (MAJ) of the radio parameters of the ATOLL database from the OSS NetAct using Parsing. Indeed, this solution will be operated by the RAN (Radio Access Network) service of mobile operators, which ensures the planning and optimization of network coverage. The overall objective of this study is to make synchronous physical data of the sites deployed in the field with the ATOLL database which contains all the data of the coverage of the mobile networks of the operators. We have made an application that automates, updates with the following functionalities: import of radio parameters with the parsing method we have defined, visualization of data and its export to the Template of the ATOLL database. The results of the tests and validations of our application developed for a 4G network have made it possible to have a solution that performs updates with a constraint on the size of data to be imported. Our solution is a reliable resource for updating the databases containing the radio parameters of the network at all mobile operators, subject to a limitation in terms of the volume of data to be imported.

A Spectrum Occupancy Model for Primary Users in Cognitive Radio Systems

There are abundant research results related to cognitive radio systems (CR systems), but using queueing models to portray CR systems is a new research trend. In this paper, a single-server retrial cognitive radio system with a linear retrial rate has been considered. The system has two types of users: primary users and secondary users. Secondary users have no effect on primary users because primary users have preemptive precedence. As a result, our purpose is to examine some performance indicators such as the expected queue length for primary users, the probability of the system being idle or occupied by a secondary user, and the probability of the system being busy. This paper begins by deriving the expressions for the generating functions based on the balance equations, so that we can calculate our goal conveniently.

Research on User Pairing Techniques Based on NOMA in Cognitive Radio Networks

This paper outlined a Non-Orthogonal Multiple Access (NOMA) grouping transmission scheme for cognitive radio networks. To address the problems of small channel gain difference of the middle part users caused by the traditional far-near pairing algorithm, and the low transmission rate of the traditional Orthogonal Multiple Access (OMA) transmission, a joint pairing algorithm was proposed, which provided multiple pairing schemes according to the actual scene. Firstly, the secondary users were sorted according to their channel gain, and then different secondary user groups were divided, and the far-near pairing combined with (Uniform Channel Gain Difference (UCGD) algorithm was used to group the secondary users. After completing the user pairing, the power allocation problem was solved. Finally, the simulation data results showed that the proposed algorithm can effectively improve the system transmission rate.

Intra-Articular Distal Radius Fracture with Lunate Fossa Rotated and Associated Lesions: Radiologic Analysis

Introduction: Intra-articular distal radial fractures in young patients occur in high energy trauma which can lead to a combination of bone and ligaments lesions. An articular step superior to 2 mm is pejorative, for that an adequate radiologic analysis is necessary accessing to the best surgical treatment. The purpose of our study was to investigate this type of fracture and expose radiologic analysis (radiograph and CT-scan) of bone and ligamentous associated lesions of this specific twisted lunate facet fracture for recognizing it and accessing to the best surgical treatment. Patients and Methods: Seven patients with severely displaced type 4 articular fractures of the distal radius whose wrists had been exposed to violent compression are reported in our series, they are required open treatment for the reduction and fixation of disrupted articular surfaces by using an antero-medial approach which allows direct access to the fragment of the lunate facet and easier visualization of the distal radio-ulnar joint. Results: All the patients were clinically examined with antero-posterior and lateral X ray, completed by a CT scan, all the fractures were type IV according to Melone classification. In all of our seven cases there was a lesion of the distal radioulnar joint (DRUJ) identified in the CT scan. The CT scan allowed us to individualize well the void of the lunate fossa and calculate his exact degree of rotation, which is very important for planning therapeutic management. Discussion: In all of our cases the CT scan was to expose all of the osseous and ligamentous injuries;in the sagittal reconstruction we were able to objectify and calculate the exact degree of the rotation of the lunate fossa fragment;in the frontal reconstruction the void of the lunate fossa is visible and in the axial reconstruction we can determine the incongruence of the distal radio-ulnar joint (DRUJ). Intra-articular involvement has long been recognized as a poor prognostic factor in fractures of the distal radius. However, despite early studies reporting poor results with non operative treatment for these injuries, most authors opposed operative intervention, due to lack of a good radiological analysis and the CT scan;knowledge that a number of studies have shown that inadequate reduction of intra-articular distal radius fractures leads to the development of arthritis.

快速射电暴观测数据干扰缓解方法研究

从海量的天文观测数据中快速搜寻罕见的快速射电暴(Fast Radio Burst,FRB)事件,干扰缓解是其中一项关键而具有挑战的工作.射频干扰(Radio Frequency Interference,RFI)会淹没真实的天文事件,还会导致搜寻管线输出大量的假阳性候选体.由于干扰来源及其种类的复杂性,目前并没有一种通用的方法可以解决这个问题.为了降低干扰对FRB观测搜寻的影响,分析和研究了南山26m射电望远镜L波段观测数据中的干扰情况,针对主要的窄带干扰和宽带干扰建立了3层次的干扰缓解处理流程,从而有效缓解了观测数据的干扰污染情况.将该流程嵌入到FRB色散动态谱搜寻(Dispersed Dynamic Spectra Search,DDSS)管线中,实验结果表明,搜寻管线的检测率和检测精度得到了进一步的提高.该方法为FRB观测数据干扰缓解处理提供了有价值的参考.

A Computational Analysis of the Influence of Anastomosis Angle on Stenosis-Prone Locations during Radio-Cephalic Arteriovenous Fistula Maturation

In dialysis treatment, the radio-cephalic arteriovenous fistula (RCAVF) is a commonly used fistula, yet its low maturation rate remains a challenge. To enhance surgical outcomes, the relationship between stenosis-prone locations and RCAVF anastomosis angle is studied during maturation by developing two sets of RCAVF models for early (non-mature) and mature RCAVFs at five anastomosis angles. The impact of hemodynamics and wall shear stress (WSS) is examined to determine optimal anastomotic angles. Results indicate that acute angles produce more physiological WSS distributions and fewer disturbed regions, with early stenosis-prone regions located near the anastomosis that shift to the bending venous segment during remodeling. A pilot study comparing clinical and numerical results is conducted for validation.

基于改进卷积神经网络和射频指纹的无人机检测与识别

针对无人机(UAV)在图像识别时易受环境干扰,而传统信号识别难以准确提取特征且实时性较差的问题,提出一种基于改进卷积神经网络(CNN)和射频(RF)指纹的无人机检测识别方法。首先,使用通用软件无线电外设(USRP)捕获环境中的无线电信号,经过多分辨率分析获取偏差值,检测是否为无人机射频信号;其次,将检测到的无人机射频信号经过小波变换和主成分分析(PCA)处理,获得射频信号频谱,作为神经网络的输入;最后,构建轻量级残差神经网络(LRCNN),输入射频频谱进行网络训练,进行无人机的分类识别。实验结果表明,所提方法可以有效检测并识别无人机信号,平均识别精度可达84%;在信噪比(SNR)大于20 dB时,LRCNN的识别精度达到了88%,相较于支持向量机(SVM)、原始OracleCNN分别提高31和7个百分点,在识别精度和鲁棒性方面比这两种方法均有所提升。