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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Menglin Wang,Hao Wang,Haiying Zhao,Ling Li,Min Liu,Fujia Liu,Fansen Meng,Caini Fan 대한고혈압학회 2020 Clinical Hypertension Vol.26 No.1
Background: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia, male pseudohermaphroditism and female gonadal dysplasia. Hundreds of pathogenic variants have been reported in this disorder, and some common mutations were found to be race-specific. Case presentation: In this study, we reported 5 Chinese girls with 17α-hydroxylase deficiency from Henan Province. The patients all came to the hospital for hypertension, and they also presented with sexual infantilism. The average age of the patients was 14 years old, ranging from 12 to 17 years old. They all had reduced blood cortisol, estradiol (E2), and testosterone (TESTO) and increased adrenocorticotropic hormone (ACTH), follicle-stimulating hormone (FSH), and luteinizing hormone (LH). They all had the appearance of females; however, three of the chromosome karyotypes were 46XX, and two were 46XY. Conclusions: All of the patients carried a mutation on the 329 amino acid of CYP17A1 exon 6. By summarizing the currently known pathogenic mutations of 17α-hydroxylase deficiency, we demonstrated the prevalence of these gene mutations in Chinese Han and non-Chinese populations.
Bearing Fault Diagnosis of Single-Channel Data by a 3D DCN with Bilinear LBP and Modified KPCA
Zhao Yunji,Zhou Menglin,Wang Li,Xu Xiaozhuo,Zhang Nannan 대한전기학회 2023 Journal of Electrical Engineering & Technology Vol.18 No.5
The vibration signal has the characteristics of nonlinear and non-stationary, and the distribution of fault feature information contained in it is not concentrated. In addition, the nonlinear coupling of fault-adjacent features in space is strong, resulting in poor spatial separability of fault information. At the same time, the fault diagnosis algorithm based on a convolutional neural network, cannot fully obtain the spatial distribution information of fault data due to its fixed geometric structure of convolution kernel. In order to solve the above problems, a novel fault diagnosis method for single-channel bearing fault data is proposed. First, the improved bilinear local binary pattern algorithm is used to extract time series constraint information between different points of the original fault data. Then, considering the strong nonlinear coupling of fault data adjacent features in space, this paper proposes the modified kernel principal component analysis. It obtains information on fault data in high-dimensional space by calculating the kernel space mapping matrix of different fault categories, kernelizing the sample matrix, and mapping the kernel space mapping matrix. Finally, based on this information, a 3D deformable convolution network (DCN) is introduced to obtain the spatial distribution information of fault data. DCN can adaptively adjust the shape of its own convolution kernel according to the input, which can obtain more comprehensive information and further improve the spatial separability of fault data. Experiments on CWRU and XJTU-SY both achieved 100% diagnostic accuracy, which shows the superiority of the proposed method.
Meng Lin,Renyong Jia,Mingshu Wang,Xinghong Gao,Dekang Zhu,Shun Chen,Mafeng Liu,Zhongqiong Yin,Yin Wang,Xiaoyue Chen,Anchun Cheng 대한수의학회 2014 JOURNAL OF VETERINARY SCIENCE Vol.15 No.3
The UL49.5 gene of most herpesviruses is conserved andencodes glycoprotein N. However, the UL49.5 protein ofduck enteritis virus (DEV) (pUL49.5) has not been reported. In the current study, the DEV pUL49.5 gene was firstsubjected to molecular characterization. To verify thepredicted intracellular localization of gene expression, therecombinant plasmid pEGFP-C1/pUL49.5 was constructedand used to transfect duck embryo fibroblasts. Next, therecombinant plasmid pDsRed1-N1/ glycoprotein M (gM)was produced and used for co-transfection with thepEGFP-C1/pUL49.5 plasmid to determine whether DEVpUL49.5 and gM (a conserved protein in herpesviruses)colocalize. DEV pUL49.5 was thought to be an envelopeglycoprotein with a signal peptide and two transmembranedomains. This protein was also predicted to localize in thecytoplasm and endoplasmic reticulum with a probability of66.7%. Images taken by a fluorescence microscope atdifferent time points revealed that the DEV pUL49.5 andgM proteins were both expressed in the cytoplasm. Overlapof the two different fluorescence signals appeared 12 h aftertransfection and continued to persist until the end of theexperiment. These data indicate a possible interaction between DEV pUL49.5 and gM.