Search

INTRODUCTION: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a rare disease with an early onset and severe phenotype. The pathogenic mechanism associated with mutations in the gene COL7A1 has been widely studied and many related cases have been reported, but prenatal cases are rare. Here, we report the prenatal diagnosis of a sporadic case of RDEB. METHODS: In this study, the fetus with abnormal skin manifestations, which were determined during a prenatal ultrasound, was evaluated based on the ultrasound and autopsy findings and the results of molecular diagnostic analyses. Samples of the fetus and the parents were subjected to trio whole-exome sequencing, and in vitro functional analyses were conducted to analyze the pathogenicity of the detected mutation. RESULTS: During the conventional prenatal ultrasound, the fetus showed abnormal epidermal lines on both lower limbs and the plantar skin as well as an interruption of the continuity of the lateral epidermal line below the ankle of the right lower limb. Gene testing revealed a homozygous nonsense mutation in COL7A1 (c.7411C>T, p.Arg2471Ter), which gave rise to RDEB in the fetus. Further, the results of the in vitro functional experiments confirmed that the mutation might lead to protein degradation. CONCLUSION: Most prenatal diagnoses of RDEB are the result of targeted molecular analyses carried out based on family history, and prenatal ultrasound reports of severe RDEB phenotypes are extremely rare. Our case suggests that the observation of abnormal epidermal lines should be given due consideration during prenatal diagnosis, as they may be a sign of possible epidermolysis bullosa.

Ion pump control system of HIRFL is designed based on the real-time distributed control software, EPICS. The hardware architecture, communication principle, database design and interlock design are introduced and elaborated in the paper. PLC has been adopted to realize functions such as control monitoring and data communication. Interlock protect ion has been designed for ion pump control system to prevent damaging from high voltage. The test results show that the system has fast response function and high-speed data processing during the beam running and tuning. The response time of the system could reach 100 ms, the rate of data acquisition reaches to 10 time/s and the interlock protection time less than 40 ms. The reliable and stable long-term operation of the vacuum system indicates that the performance has been constantly improved with the continuous optimization of the ion pump control system.

Status monitoring is a crucial part of the accelerator control and operating system and real-time performance of status monitoring control system is claimed higher and higher. Therefore, many special designed methods are proposed for the different status monitoring systems. The purpose of this paper is to classify and assess the system of vacuum control, temperature control and radiation dose monitoring which are based on EPICS used for many large scientific equipments. The water leakage detection and alarm system developed based on EPICS by the author is introduced in the last of this paper. The result manifests that the stability and accuracy of these monitoring system could meet design requirements exactly.

A novel method was proposed for transforming the ischemic information in the 12-lead electrocardiogram (ECG) into the pseudo-color pattern displayed on a 3D heart model based on the projection of a ST injury vector in this study. The projection of the ST injury vector at a point on the heart surface was used for identifying the presence of myocardial ischemia by the difference between the projection value and the detection threshold. Supposing that myocardial ischemia was uniform and continuous, the location and range of myocardial ischemia could be accurately calculated and visually displayed in a color-encoding way. The diagnoses of the same patient were highly consistent (kappa coefficientk=0.9030) between the proposed method used by ordinary people lacking medical knowledge and the standard 12-lead ECG used by experienced cardiologists. In addition, the diagnostic accuracy of the proposed method was further confirmed by the coronary angiography. The results of this study provide a new way to promote the development of the 3D visualization of the standard 12-lead ECG, which has a great help for inexperienced doctors or ordinary family members in their diagnosis of patients with myocardial ischemia.

Recognition methods of Chinese characters and similar characters are the main factors which affect the rate of license plate character recognition system. In this paper, a hybrid method based on wavelet transform and generalized regression neural network (GRNN) is proposed. For Chinese characters, a block projection with wavelet packet transform is adopted to extract the feature and a clustering algorithm is presented to reduce the dimension of feature vector. Moreover, the method of the characteristic regional recognition is introduced to recognition the similar characters. Besides, the clustering method based on wavelet transform is used to extract the feature of letter and digital characters. Furthermore, GRNN with powerful non-linear mapping capability and high fault-tolerant ability is designed as character classifier in the multi-network character recognition system. Finally, the result shows that the recognition rate of whole network could reach up to 91% and the classification algorithm has better robustness.

License plate character segmentation is a crucial process of license plate recognition. During the process of image acquisition, because of light condition and the change of shooting distance and the diversity of the plate's format, the task become very challenging. Therefore, many algorithms are proposed under certain conditions, such as a fixed shooting distance or no illumination change. The purpose of this paper is to classify and assess the technique which has been developed for license plate character segmentation. Execution time, accuracy of segmentation, the robustness of algorithm will be reported. At last, the technique based on the connected component correction is proposed in the thesis. The result manifests that the accuracy of character segmentation could reach 84.4%.