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Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient:A case report

World Journal of Clinical Cases 2024年第19期12卷 3961-3970页

作者： Ling-Ding Xie xiao-Mu Kong jing-xia shen Tai-Ling Wang jing Ma Yun-Fen Zhang xiao-Ping Chen Department of Endocrinology China-Japan Friendship HospitalBeijing 100029China Department of Tumor Radiotherapy and Chemotherapy Qian’an People’s HospitalQian’an 064400Hebei ProvinceChina Department of Pathology China-Japan Friendship HospitalBeijing 100029China Department of Endocrinology Aksu First People's HospitalAksu Region 843000Xinjiang Uygur Autonomous RegionChina Department of Metabolic Diseases Qian’an Traditional Chinese Medical HospitalQian’an 064400Hebei ProvinceChina

BACKGROUND Juvenile hemochromatosis(JH)is an early-onset,rare autosomal recessive disorder of iron overload observed worldwide that leads to damage in multiple *** mutations in the hemojuvelin(HJV)gene are the major cause of *** SUMMARY A 34-year-old male Chinese patient presented with liver fibrosis,diabetes,hypogonadotropic hypogonadism,hypophysis hypothyroidism,and skin *** test revealed a markedly elevated serum ferritin level of 4329μg/L and a transferrin saturation rate of 95.4%.Targeted exome sequencing and Sanger sequencing revealed that the proband had a novel mutation c.863G>A(p.R288Q)in the HJV gene which was transmitted from his father,and two known mutations,c.18G>C(p.Q6H)and c.962_963delGCinsAA(p.C321*)in cis,which were inherited from his *** p.R288W mutation was previously reported to be pathogenic for hemochromatosis,which strongly supported the pathogenicity of p.R288Q reported for the first time in this *** 72 wk of intensive phlebotomy therapy,the patient achieved a reduction in serum ferritin to 160.5μg/*** patient's clinical symptoms demonstrated a notable *** This study highlights the importance of screening for hemochromatosis in patients with diabetes and hypogonadotropic *** also suggests that long-term active phlebotomy could efficiently improve the prognosis in severe JH.

关键词： Juvenile hemochromatosis Liver cirrhosis Diabetes Iron overload Phlebotomy Case report

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Relationship between testosterone and indexes indicating endothelial function in male coronary heart disease patients

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Asian Journal of Andrology 2008年第2期10卷 214-218页

作者： Lu Fu Qian-Ping Gao jing-xia shen Cardiovascular Department the First Affiliated Hospital of Harbin Medical University Harbin 150001 China

Aim： To investigate the relationship between androgen level and the indexes indicating endothelial function in male patients with coronary heart disease （CHD）. Methods： We registered the following data for 106 50-70-year-old men： age, weight, blood lipid, including total cholesterol, low density lipoprotein cholesterol, high density lipoprotein cholesterol and triglyceride, whether a smoker, sugar levels, blood pressure, free testosterone （FT）, vascular cell adhesion molecule- 1 （VCAM- 1） and the intima-media thickness （IMT） of common carotid artery, common carotid diameter, maximum velocity in systolic phase, minimum velocity in diastolic phase and resistent index. Among the 106 men, 51 were patients with CHD. The relationships between FT level, VCAM-1 concentration and IMT were examined, respectively, using a stepwise linear regression technique among all the 106 men. Results： There was no statistical difference in terms of age, blood pressure, whether a smoker, sugar levels, HDL-C, minimum velocity in diastolic phase, resistent index between male CHD patients and controls; whereas results for weight, total cholesterol, low density lipoprotein cholesterol, triglyceride, VCAM- 1 and IMT of male CHD patients were higher than those of controls; FT level and maximum velocity in systolic phase were lower. It was found that among all the objects, FT level was inversely correlated with IMT and VCAM-1 concentration. Condusion： FT level was inversely correlated with VCAM-I concentration and IMT which are indicators of endothelial function. （Asian JAndro12008 Mar; 10： 214-218）

关键词： testosterone coronary heart disease endothelial function

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A Probing Model of Secret Key Generation Based on Channel Autocorrelation Function

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China Communications 2024年第6期21卷 163-175页

作者： xia Enjun Hu Binjie shen Qiaoqiao School of Electronic and Information Engineering South China University of TechnologyGuangzhou 510641China

Secret key generation(SKG)is a promising solution to the problem of wireless communications *** the first step of SKG,channel probing affects it *** there have been some probing schemes,there is a lack of research on the optimization of the probing *** study investigates how to optimize correlated parameters to maximize the SKG rate(SKGR)in the time-division duplex(TDD)***,we build a probing model which includes the effects of transmitting power,the probing period,and the dimension of sample *** on the model,the analytical expression of the SKGR is ***,we formulate an optimization problem for maximizing the SKGR and give an algorithm to solve *** conclude the SKGR monotonically increases as the transmitting power *** mathematical proofs are given in this *** the simulation results,increasing appropriately the probing period and the dimension of the sample vector could increase the SKGR dramatically compared to a yardstick,which indicates the importance of optimizing the parameters related to the channel probing phase.

关键词： channel autocorrelation function channel probing optimization problem physical layer security secret key generation

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Transient Characteristics and Accommodative Current Limiting Strategy for Bidirectional Interlinking Converters in Hybrid AC/DC Microgrids

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CSEE Journal of Power and Energy Systems 2024年第4期10卷 1575-1588页

作者： xia shen Zhikang Shuai Wen Huang Chao shen Yang shen Z.John shen College of Electrical and Information Engineering Hunan UniversityChangsha 410082China Department of Electrical and Computer Engineering Illinois Institute of TechnologyChicagoIL 60616 USA

Bidirectional interlinking converter(BIC)is the core equipment in a hybrid AC/DC microgrid connected between AC and DC ***,the variety of control modes and flexible bidirectional power flow complicate the influence of AC faults on BIC itself and on DC sub-grid,which potentially threaten both converter safety and system *** study first investigates AC fault influence on the BIC and DC bus voltage under different BIC control modes and different pre-fault operation states,by developing a mathematical model and equivalent sequence ***,based on the analysis results,a general accommodative current limiting strategy is proposed for BIC without limitations to specific mode or operation *** amplitude is predicted and constrained according to the critical requirements to protect the BIC and relieving the AC fault influence on the DC bus *** with conventional methods,potential current limit failure and distortions under asymmetric faults can also be ***,experiments verify feasibility of the proposed method.

关键词： Bidirectional interlinking converter current limiting fault characteristic hybrid AC/DC microgrid variation/oscillation of DC bus voltage

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A scoping review of methodologies for applying artificial intelligence to physical activity interventions

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Journal of Sport and Health Science 2024年第3期13卷 428-441页

作者： Ruopeng An jing shen Junjie Wang Yuyi Yang Brown School Washington UniversitySt.LouisMO 63130USA Department of Physical Education China University of Geosciences BeijingBeijing 100083China School of Kinesiology and Health Promotion Dalian University of TechnologyDalian 116024China Division of Computational and Data Sciences Washington UniversitySt.LouisMO 63130USA

Purpose This scoping review aimed to offer researchers and practitioners an understanding of artificial intelligence(AI)applications in physical activity(PA)interventions;introduce them to prevalent machine learning(ML),deep learning(DL),and reinforcement learning(RL)algorithms;and encourage the adoption of AI *** A scoping review was performed in PubMed,Web of Science,Cochrane Library,and EBSCO focusing on AI applications for promoting PA or predicting related behavioral or health *** methodologies were summarized and categorized to identify synergies,patterns,and trends informing future ***,a concise primer on predominant AI methodologies within the realm of PA was provided to bolster understanding and broader *** The review included 24 studies that met the predetermined eligibility *** models were found effective in detecting significant patterns of PA behavior and associations between specific factors and intervention *** studies comparing AI models to traditional statistical approaches reported higher prediction accuracy for AI models on test *** of different AI models yielded mixed results,likely due to model performance being highly dependent on the dataset and *** increasing trend of adopting state-of-the-art DL and RL models over standard ML was observed,addressing complex human–machine communication,behavior modification,and decision-making *** key areas for future AI adoption in PA interventions emerged:personalized PA interventions,real-time monitoring and adaptation,integration of multimodal data sources,evaluation of intervention effectiveness,expanding access to PA interventions,and predicting and preventing *** The scoping review highlights the potential of AI methodologies for advancing PA *** the field progresses,staying informed and exploring emerging AI-driven strategies is essential for achieving significant improveme

关键词： Artificial intelligence Intervention Machine learning Neural network Physical activity

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Intelligent Reflecting Surface-Aided Secure and Covert Communications

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China Communications 2024年第9期21卷 1-10页

作者： Zhou xiaobo Jiang Yong xia Tingting xia Guiyang shen Tong School of Information and Artificial Intelligence Anhui Agricultural UniversityAnhui 230036China

This work employs intelligent reflecting surface(IRS)to enhance secure and covert communication *** formulate an optimization problem to jointly design both the reflection beamformer at IRS and transmit power at transmitter Alice in order to optimize the achievable secrecy rate at Bob subject to a covertness *** first develop a Dinkelbach-based algorithm to achieve an upper bound performance and a high-quality *** reducing the overhead and computational complexity of the Dinkelbach-based scheme,we further conceive a low-complexity algorithm in which analytical expression for the IRS reflection beamforming is derived at each *** result shows that the devised low-complexity algorithm is able to achieve similar secrecy rate performance as the Dinkelbach-based *** examination also shows that introducing an IRS into the considered system can significantly improve the secure and covert communication performance relative to the scheme without IRS.

关键词： covert communications intelligent reflecting surface physical layer security reflection beamforming

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Amino acids in piglet diarrhea: Effects, mechanisms and insights

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Animal Nutrition 2024年第1期16卷 267-274页

作者： Xihong Zhou jing Liang xia Xiong Yulong Yin Key Laboratory of Agro-ecological Processes in Subtropical Region Institute of Subtropical Agriculture The Chinese Academy of Sciences College of Advanced Agricultural Sciences University of Chinese Academy of Sciences

Piglet diarrhea is among one of the most serious health problems faced by the pig industry, resulting in significant economic losses. Diarrheal disease in piglets has a multifactorial etiology that is affected by physiology, environment, and management strategy. Diarrhea is the most apparent symptom of intestinal dysfunction. As a key class of essential nutrients in the piglet diet, amino acids confer a variety of beneficial effects on piglets in addition to being used as a substrate for protein synthesis, including maintaining appropriate intestinal integrity, permeability and epithelial renewal, and alleviating morphological damage and inflammatory and oxidative stress. Thus, provision of appropriate levels of amino acids could alleviate piglet diarrhea. Most amino acid effects are mediated by metabolites, gut microbes, and related signaling pathways. In this review, we summarize the current understanding of dietary amino acid effects on gut health and diarrhea incidence in piglets, and reveal the mechanisms involved. We also provide ideas for using amino acid blends and emphasize the importance of amino acid balance in the diet to prevent diarrhea in piglets.

关键词： Piglet Amino acid Diarrhea Gut microbe Immune

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Bortezomib depended on PRDM1 and TP53 to exert therapeutic effect in activated B-cell-like diffuse large B-cell lymphoma

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Genes & Diseases 2024年第2期11卷 550-553页

作者： jing Tang Yue Li Jiazhu Wu Haorui shen Hua Yin Jinhua Liang Li Wang Jianyong Li Yi xia Wei Xu Department of Hematology The First Affiliated Hospital of Nanjing Medical UniversityJiangsu Province HospitalNanjingJiangsu 210029China Key Laboratory of Hematology of Nanjing Medical University NanjingJiangsu 210029China Collaborative Innovation Center for Cancer Personalized Medicine NanjingJiangsu 210029China

PR/SET domain 1(PRDM1)gene is located on chromosome 6q21,encoding the B lymphocyte-induced maturation protein 1(BLIMP1).1 It is reported that loss of PRDM1 function is exacerbated in activated B-cell-like(ABC)-diffuse large B cell lymphoma(DLBCL)and associated with inferior ***,it remains unclear what leads to PRDM1 inactivation and the drug resistance mechanism caused by abnormal inactivation of *** investigated the contribution of PRDM1 gene as a prognosis and potential therapeutic target for ABC-DLBCL patients and further clarified the possible mechanism of PRDM1 abnormal *** first proposed that TP53 could regulate PRDM1 by histone ubiquitination modification at the post-transcriptional level.

关键词： PRDM1 TP53 therapeutic

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Stability Investigation and Improvement for DC Cascade Systems with Simplified Impedance-based Stability Criterion

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CSEE Journal of Power and Energy Systems 2024年第3期10卷 1044-1052页

作者： Junbin Fang Zhikang Shuai Yang Li Zhibing Wang xiangyang Wu xia shen Z.John shen College of Electrical and Information Engineering Hunan UniversityChangsha 410082China Renewable Energy Department of China Electric Power Research Institute Beijing 100192China Department of Electrical and Computer Engineering Illinois Institute of TechnologyChicagoIL 60616USA IEEE

In DC distributed power systems(DPSs),the complex impedance interactions possibly lead to DC bus voltage oscillation or *** previous research,the stability analysis of DPSs is implemented based on mathematical analysis in control *** specific mechanisms of the instability of the cascade system have not been intuitively *** this paper,the stability analysis of DPSs based on the traditional Nyquist criterion is simplified to the resonance analysis of the seriesconnected port impedance(Z=R+jX)of source and load *** reveals that the essential reason for impedance instability of a DC cascade system is that the negative damping characteristic(R<0)of the port the overall impedance amplifies the internal resonance source at reactance zero-crossing *** simplified stability criterion for DC cascade systems can be concluded as:in the negative damping frequency ranges(R<0),there exists no zero-crossing point of the reactance component(i.e.,X=0).According to the proposed stability criterion,the oscillation modes of cascade systems are classified.A typical one is the internal impedance instability excited by the negative damping,and the other one is that the external disturbance amplified by negativity in a low stability ***,the impedance reshaping method for stability improvement of the system can be further *** validity of the simplified criterion is verified theoretically and experimentally by a positive damping reshaping method.

关键词： DC cascaded system,impedance model impedance reconstruction stability criterion

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Local saliency consistency-based label inference for weakly supervised salient object detection using scribble annotations

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CAAI Transactions on Intelligence Technology 2024年第1期9卷 239-249页

作者： Shuo Zhao Peng Cui jing shen Haibo Liu School of Computer Science and Technology Harbin University of Science and TechnologyHarbinChina School of Computer Science and Technology Harbin Engineering UniversityHarbinChina

Recently,weak supervision has received growing attention in the field of salient object detection due to the convenience of ***,there is a large performance gap between weakly supervised and fully supervised salient object detectors because the scribble annotation can only provide very limited foreground/background ***,an intuitive idea is to infer annotations that cover more complete object and background regions for *** this end,a label inference strategy is proposed based on the assumption that pixels with similar colours and close positions should have consistent ***,k-means clustering algorithm was first performed on both colours and coordinates of original annotations,and then assigned the same labels to points having similar colours with colour cluster centres and near coordinate cluster ***,the same annotations for pixels with similar colours within each kernel neighbourhood was set *** experiments on six benchmarks demonstrate that our method can significantly improve the performance and achieve the state-of-the-art results.

关键词： label inference salient object detection weak supervision

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