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A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases

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International Journal of Ophthalmology(English edition) 2023年第12期16卷 1962-1970页

作者： Hong-Dou Luo Shao-Nan Pei Ai-Jia Wang xue-qing yu Hai-Jian Hu Ling Zeng Fei-Fei Wang Ming Jin Xu Zhang Affiliated Eye Hospital of Nanchang University Jiangxi Research Institute of Ophthalmology&Visual Science/Jiangxi Provincial Key Laboratory for OphthalmologyNanchang 330006Jiangxi ProvinceChina

AIM:To characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa(RP)and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family.METHODS:Ophthalmic clinic performance was examined in detail in 8 enrolled family members.Genomic DNA was extracted from the peripheral blood of 4 family members for whole-exome sequencing(WES)to select potential genetic mutations whose structures were identified by bioinformatics analysis.Then,Sanger sequencing was used in 12 family members and control group members to validate and confirm the disease-causing mutation loci,and we analyzed the genotype-phenotype relationships.RESULTS:The known c.512C>T(p.P171L)mutation in the rhodopsin(RHO)gene was only found in afflicted family members and was confirmed by WES and Sanger sequencing as the pathogenic mutation in this family.In addition to being diagnosed with RP,family member III:4 was found to have bilateral closed-angle glaucoma,high myopia,and concurrent cataracts,and family members II:2 and II:4 had pathological changes of anterior chamber angle narrowing.Family members IV:3 and IV:4 were found to have retinoschisis.CONCLUSION:Glaucoma and related pathological changes,such as retinoschisis,in family members are preliminarily considered RP complications caused by RHO mutation.

关键词： retinitis pigmentosa glaucoma wholeexome sequencing RHO

Long non-coding RNAs as novel diagnostic and therapeutic targets in kidney disease

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Chronic Diseases and Translational Medicine 2019年第4期5卷 252-257页

作者： Qin Zhou Wei Chen xue-qing yu Department of Nephrology The First Affiliated HospitalSun Yat-sen UniversityGuangzhouGuangdong 510080China National Health Commission Key Laboratory of Nephrology The First Affiliated HospitalSun Yat-sen UniversityGuangzhouGuangdong 510080China Guangdong Provincial Key Laboratory of Nephrology The First Affiliated HospitalSun Yat-sen UniversityGuangzhouGuangdong 510080China Guangdong General Hospital GuangzhouGuangdong510080China

Long non-coding RNAs(IncRNAs)have critical roles in the development of many diseases including kidney disease.An increasing number of studies have shown that IncRNAs are involved in kidney development and that their dysregulation can result in distinct disease processes,including acute kidney injury(AKI),chronic kidney disease(CKD),and renal cell carcinoma(RCC).Understanding the roles of IncRNAs in kidney disease may provide new diagnostic and therapeutic opportunities in the clinic.This review provides an overview of IncRNA characteristics,biological function and discusses specific studies that provide insight into the function and potential application of IncRNAs in kidney disease treatment.

关键词： Long non-coding RNAs Kidney disease Renal inflammation Renal fibrosis Diabetic nephritis Renal cell carcinoma

Traditional Chinese medicine in the treatment of idiopathic pulmonary fibrosis based on syndrome differentiation:Study protocol of an exploratory trial

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Journal of Integrative Medicine 2020年第2期18卷 163-168页

作者： xue-qing yu Shu-guang Yang Yang Xie Jian-sheng Li Department of Respiratory Diseases The First Affiliated Hospital of Henan University of Chinese MedicineZhengzhouHenan Province 450000China Co-construction Collaborative Innovation Center for Chinese Medicine and Respiratory Diseases by Henan&Education Ministry of P.R.China Henan University of Chinese MedicineZhengzhouHenan Province 450046China Henan Key Laboratory of Chinese Medicine for Respiratory Diseases Henan University of Chinese MedicineZhengzhouHenan Province 450046China

Background: Idiopathic pulmonary fibrosis(IPF) has a poor prognosis and is often a kind of heavy financial burden to patients. Currently, few treatments are available for IPF. Clinical practice of traditional Chinese medicine(TCM), using a syndrome differentiation approach, offers some treatment success in IPF. However, there is no sufficient evidence-based study of the role of TCM in IPF management to make strong conclusions. This study evaluates the efficacy and safety of TCM in the treatment of IPF.Methods and design: A multicenter, exploratory, randomized, double-blind and placebo-controlled trial is planned. A total of 80 patients will be enrolled in the study, which will include 26 weeks of treatment.Participants will be randomly assigned into TCM group or control group in a 1:1 ratio. The TCM group will be given TCM granules based on syndrome differentiation. Formulae include Bao-fei Hua-xian granule for lung qi deficiency, Jin-shui Huan-xian granule for lung-kidney qi deficiency and Yang-qing Kang-xian granule for yin deficiency and inner heat. The control group will be given a corresponding TCM granule placebo. The efficacy and safety of interventions will be evaluated by the outcome variables,including frequencies of acute exacerbations, pulmonary function, clinical symptoms, dyspnea, healthrelated quality of life(HRQo L), 6-minute walk distance and safety indicators.Discussion: It is hypothesized that TCM will decrease the frequency of adverse events, improve pulmonary function and HRQo L, based on our clinical experience. This trial is the first study of TCM treatment in IPF that is based on syndrome differentiation and will evaluate the efficacy and safety of TCM in IPF.

关键词： Idiopathic pulmonary fibrosis Traditional Chinese medicine Syndrome differentiation Protocol

A Predictive Model for Estimation Risk of Proliferative Lupus Nephritis

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Chinese Medical Journal 2018年第11期131卷 1275-1281页

作者： Dong-Ni Chen Li Fan yu-Xi Wu Qian Zhou Wei Chen xue-qing yu Department of Nephrology The First Affiliated Hospital Sun Yat-sen University Key Laboratory of Nephrology Ministry of Health and Guangdong Province Guangzhou Guangdong 510080 China Clinical Trials Unit The First Affiliated Hospital Sun Yat-sen University Guangzhou Guangdong 510080 China Department of Nephrology The First Affiliated Hospital Sun Yat-sen University Guangdong 510080 Key Laboratory of Nephrology Ministry of Health and Guangdong Province Guangzhou Guangdong 510080 Guangdong Medical University Zhanjiang Guangdong 524023 China

Background： Lupus nephritis （LN） is classified by renal biopsy into proliferative and nonproliferative forms, with distinct prognoses, but renal biopsy is not available for every LN patient. The present study aimed to establish an alternate tool by building a predictive model to evaluate the probability of proliferative LN. Methods： In this retrospective cohort with biopsy-proven LN, 382 patients in development cohort, 193 in internal validation cohort, and 164 newly diagnosed patients in external validation cohort were selected. Logistic regression model was established, and the concordance statistics （C-statistics）, Akaike information criterion （AIC）, integrated discrimination improvement, Hosmer-Lemeshow test, and net reclassification improvement were calculated to evaluate the performance and validation of models. Results： The prevalence of proliferative LN was 77.7% in the whole cohort. A model, including age, gender, systolic blood pressure, hemoglobin, proteinuria, hematuria, and serum C3, performed well on good-of-fit and discrimination in the development chohort to predict the risk of proliferative LN （291 for AIC and 0.84 for C-statistics）. In the internal and external validation cohorts, this model showed good capability for discrimination and calibration （0.84 and 0.82 for C-statistics, and 0.99 and 0.75 for P values, respectively）. Conclusion： This study developed and validated a model including demographic and clinical indices to evaluate the probability of presenting proliferative LN to guide therapeutic decisions and outcomes.

关键词： Biopsy Lupus Nephritis Nomogram Predictive Value of Tests Risk Factors

Association between timing of peritoneal dialysis initiation and mortality in end-stage renal disease

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Chronic Diseases and Translational Medicine 2019年第1期5卷 37-43页

作者： yuan Peng Xiao Yang Wei Chen xue-qing yu Department of Nephrology The First Affiliated Hospital Sun Yat-sen University Guangzhou Guangdong 510080 China Key Laboratory of Nephrology National Health Commission and Guangdong Province Guangzhou Guangdong 510080 China

Despite the widespread use of chronic dialysis for end-stage renal disease (ESRD), there is no consensus on the optimal timing of initiating renal replacement therapy. Over the past decade, a worldwide trend toward increasing glomerular filtration rate at the initiation of dialysis has been noted. However, available data indicate that early dialysis has no survival benefit or is harmful. Peritoneal dialysis (PD) is one alternative for ESRD and has potential survival factors different from those of hemodialysis. The association between the timing of PD initiation and survival is unclear. This review examines the effect of the timing of dialysis on clinical outcomes in PD patients.

关键词： Peritoneal dialysis (PD) Initiation Mortality Glomerular filtration rate (GFR)

K_(3)C_(60)表面量子自旋诱导的YSR多重态和量子相变

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Science Bulletin 2024年第10期69卷 1392-1399页

作者：王树泽于雪晴韦力瑄王利程强军彭坤程方君刘宇李坊森马旭村薛其坤宋灿立 State Key Laboratory of Low-Dimensional Quantum Physics Department of PhysicsTsinghua UniversityBeijing 100084China Vacuum Interconnected Nanotech Workstation Suzhou Institute of Nano-Tech and Nano-BionicsChinese Academy of SciencesSuzhou 215123China Frontier Science Center for Quantum Information Beijing 100084China Beijing Academy of Quantum Information Sciences Beijing 100193China Southern University of Science and Technology Shenzhen 518055China

Magnetic impurities in superconductors are of increasing interest due to emergent yu-Shiba-Rusinov(YSR)states and Majorana zero modes for fault-tolerant quantum computation.However,a direct relationship between the YSR multiple states and magnetic anisotropy splitting of quantum impurity spins remains poorly characterized.By using scanning tunneling microscopy,we systematically resolve individual transition-metal(Fe,Cr,and Ni)impurities induced YSR multiplets as well as their Zeeman effects in the K_(3)C_(60)superconductor.The YSR multiplets show identical d orbital-like wave functions that are symmetry-mismatched to the threefold K_(3)C_(60)(111)host surface,breaking point-group symmetries of the spatial distribution of YSR bound states in real space.Remarkably,we identify an unprecedented fermion-parity-preserving quantum phase transition between ground states with opposite signs of the uniaxial magnetic anisotropy that can be manipulated by an external magnetic field.These findings can be readily understood in terms of anisotropy splitting of quantum impurity spins,and thus elucidate the intricate interplay between the magnetic anisotropy and YSR multiplets.

关键词： Magnetic anisotropy YSR multiplets Quantum spin Quantum phase transition Identical wave functions Zeeman effects

Age differences in associations of serum alkaline phosphatase and mortality among peritoneal dialysis patients

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Chinese Medical Journal 2019年第2期132卷 232-236页

作者： Juan Wu Xin-Hui Liu Rong Huang Hai-Shan Wu Qun-Ying GUO Chun-Yan Yi xue-qing yu Xiao Yang Department of Nephrology The First Affiliated HospitalSun Yat-sen UniversityGuangzhouGuangdong 510080China Key Laboratory of Nephrology Nationa[Health Commission and Guangdong ProvinceGuangzhouGuangdong 510080China Department of Nephrology Zhejiang Provincial People's HospitalHangzhouZhejiang 310014China

To the Editor:Serum alkaline phosphatase (ALP) is an important bone turnover marker in chronic kidney disease (CKD) patients, with studies indicating that higher serum ALP levels are associated with increased mortality in hemodialysis (HD) patients.[1] Our previous study also showed that higher serum ALP levels were independently associated with all-cause and cardiovascular mortality in peritoneal dialysis (PD) patients.

关键词： Serum alkaline phosphatase turnover chronic kidney

Functional and psychosocial effects of pulmonary Daoyin on patients with COPD in China:study protocol of a multicenter randomized controlled trial

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Journal of Integrative Medicine 2013年第2期11卷 140-146页

作者： xue-qing yu Jian-sheng Li Su-yun Li Yang Xie Ming-hang Wang Hai-long Zhang Hai-feng Wang Zhi-wan Wang Department of Respiratory Diseases the First Affiliated Hospital Henan University of Traditional Chinese Medicine Institute of Geriatric Medicine Henan University of Traditional Chinese Medicine

BACKGROUND： Chronic obstructive pulmonary disease （COPD） is a major public health problem worldwide. Pulmonary rehabilitation （PR） is an established intervention for the management of patients with COPD. Exercise training is an important part of PR, and its effectiveness in patients with COPD is well established. However, alternative methods of PR training such as Daoyin have not been appropriately studied. Hence, alternative forms of exercise training that require less exercise equipment and no specific training place should be evaluated. This paper describes the study protocol of a clinical trial that aims to determine if pulmonary Daoyin training will improve the exercise capacity and psychosocial function of patients with COPD in China. METHODS AND DESIGN： A multicenter, randomized, controlled trial will be conducted. A total of 464 patients meeting the inclusion criteria will be enrolled into this study with 232 patients in each of the trial group and the control group. Based on patient education, patients in the trial group will receive pulmonary Daoyin and continue with their usual therapy for three months. In the control group, patients will continue with their usual therapy. The primary outcome measures are exercise capacity assessed by the six-minute walking distance test and lung function. Secondary outcomes include dyspnea and quality of life. Measurements will be taken at baseline （month 0） and after the study period （month 3）. DISCUSSION： It is hypothesized that pulmonary Daoyin will have beneficial effects in improving exercise capacity and psychosocial function of patients with stable COPD, and will provide an alternative form of exercise training that is accessible for the large number of people with COPD. TRIAL REGISTRATION： This trial has been registered in ClinicalTrials.gov. The identifier is NCT01482000.

关键词： chronic obstructive pulmonary disease Daoyin randomized controlled trial study protocol

CDK7抑制剂THZ1对膀胱癌5637细胞系增殖和凋亡的影响

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牡丹江医学院学报 2024年第1期45卷 11-15页

作者：薛雨晴王子瑞赵奇牡丹江医学院黑龙江牡丹江157011 大连医科大学辽宁大连116000 黑龙江森工牡丹江林业中心医院黑龙江牡丹江157000

目的探究细胞周期依赖性激酶7(cyclin-dependent kinase 7,CDK7)抑制剂THZ1对膀胱癌5637细胞系增殖和凋亡的影响。方法采用CCK8实验检测细胞的药物毒性情况,筛选有效药物浓度。采用平板克隆实验评估其在体外的抗肿瘤活性,研究其在一... 详细信息

目的探究细胞周期依赖性激酶7(cyclin-dependent kinase 7,CDK7)抑制剂THZ1对膀胱癌5637细胞系增殖和凋亡的影响。方法采用CCK8实验检测细胞的药物毒性情况,筛选有效药物浓度。采用平板克隆实验评估其在体外的抗肿瘤活性,研究其在一定剂量浓度内对肿瘤细胞的增殖能力的抑制作用。采用划痕实验测定药物对肿瘤细胞迁移能力的影响。采用Western blot实验检测凋亡蛋白的表达水平。结果 CCK8结果显示CDK7抑制剂THZ1对膀胱癌5637细胞系增殖能力具有抑制作用(P<0.05)。平板克隆实验显示CDK7抑制剂THZ1对膀胱癌5637细胞系的增殖能力有抑制作用(P均<0.05)。划痕实验显示CDK7抑制剂THZ1对膀胱癌5637细胞系的迁移能力有抑制作用(P均<0.05)。Western blot实验显示CDK7抑制剂THZ1对膀胱癌5637细胞系的蛋白表达水平有抑制作用(P均<0.05)。结论 CDK7抑制剂THZ1对膀胱癌5637细胞系增殖有抑制作用、促进凋亡作用,该项研究结果提示CDK7抑制剂THZ1对膀胱癌有治疗效果。

关键词：膀胱癌膀胱癌5637细胞 CDK7 THZ1