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Both gain-and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

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Journal of Genetics and Genomics 2024年第8期51卷 801-810页

作者： Wan-Bing Sun Jing-Xin Fu Yu-Lan Chen Hong-Fu Li zhi-ying Wu Dian-Fu Chen Department of Medical Genetics and Center for Rare Diseases and Department of Neurologyand Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation in Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Nanhu Brain-computer Interface Institute HangzhouZhejiang 314050China MOE Frontier Science Center for Brain Science and Brain-machine Integration School of Brain Science and Brain MedicineZhejiang UniversityHangzhouZhejiang 310012China

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channelα*** variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia(PKD),but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD *** the whole exome sequencing followed by Sanger sequencing,we screen for potential pathogenic KCNA1 variants in patients clinically diagnosed with paroxysmal movement disorders and identify three previously unreported missense variants of KCNA1 in three unrelated Chinese *** proband of one family(c.496G>A,p.A166T)manifests as episodic ataxia type 1,and the other two(c.877G>A,p.V293I and c.1112C>A,p.T371A)manifest as *** pathogenicity of these variants is confirmed by functional studies,suggesting that p.A166T and p.T371A cause a loss-of-function of the channel,while p.V293I leads to a gain-of-function with the property of voltage-dependent gating and activation kinetic *** reviewing the locations of PKD-manifested KCNA1 variants in Kv1.1 protein,we find that these variants tend to cluster around the pore domain,which is similar to ***,our study strengthens the correlation between KCNA1 variants and PKD and provides more information on genotype–phenotype correlations of KCNA1 channelopathy.

关键词： Paroxysmal kinesigenic dyskinesia KCNA1 Loss-of-function Gain-of-function Channelopathy Episodicataxiatype1

Amplified circularly polarized luminescence of chiral metal-organic frameworks via post-synthetic installing pillars

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Chinese Chemical Letters 2024年第10期35卷 485-489页

作者： Xue-zhi Wang Yi-Tong Liu Chuang-Wei Zhou Bei Wang Dong Luo Mo Xie Meng-ying Sun Yong-liang Huang jie Luo Yan Wu Shuixing Zhang Xiao-Ping Zhou Dan Li Department of Radiology The First Afliated HospitalJinan UniversityGuangzhou 510632China College of Chemistry and Materials Science and Guangdong Provincial Key Laboratory of Functional Supramolecular Coordination Materials and ApplicationsJinanUniversityGuangzhou510632China Department of Medicinal Chemistry Shantou University Medical CollegeShantou 515041China Department of Anesthesiology.The First Afliated Hospital of Sun Yat-sen University Guangzhou 50080China

Post-synthetic installation strategy is an effective approach to improve the functions of metal-organic frameworks(MOFs).Herein,a pair of chiral MOFs is successfully constructed through solvothermal subcomponent self-assembly and exhibit circularly polarized luminescence(CPL).These MOFs contain coordinatively unsaturated Zn sites and channels,which allow the installation of pyridyl-terminated pillars into the original *** a post-synthetic installation process reinforces the MOFs'rigidity and increases the photoluminescence quantum yields(PLQYs).Furthermore,the luminescence dissymmetry factors(glum)of these post-modified MOFs are amplified after installing the *** work provides an appealing strategy for boosting the CPL performance of chiral MOFs.

关键词： Chiral metal-organic frameworks Circularlypolarized luminescence Post-synthetic installation Pyridyl-terminated pillars Chirality transfer

Strengthening Organizational Support Is Essential for the High-Quality Development of Disease Prevention and Control Initiatives

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China CDC weekly 2024年第38期6卷 982-985页

作者： ying Cui Qingfeng Chen Hao Chen Kaixuan Liu Yuan Wang Chengyu Lai zhi Zeng Jun Yan Office of Policy and Planning Research Chinese Center for Disease Control and PreventionBeijingChina Chinese Center for Disease Control and Prevention BeijingChina

Organizational security in public health encompasses structural and supportive measures designed to ensure public health security and effectively prevent and control disease *** measures include organizational leadership,investment mechanisms,information technology support,scientific research,and international exchange and *** prevention and control is often described as an“invisible war”,emphasizing the need for preparedness and proactive measures(1).As the adage states,“Before soldiers and horses move,food and grass go first,”highlighting the critical role of a robust organizational security foundation for successful disease prevention and control *** foundation is essential for promoting high-quality development within the *** its 14th Five-Year Plan period,the Chinese government has implemented policies to bolster organizational *** this commitment,on December 25,2023,the State Council issued the“Guiding Opinions on Promoting the High-Quality Development of Disease Prevention and Control.”

关键词： prevention measures foundation

Dynamics of information diffusion and disease transmission in time-varying multiplex networks with asymmetric activity levels

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Chinese Physics B 2024年第3期33卷 690-699页

作者：谢笑笑霍良安董雅芳程英英 Business School University of Shanghai for Science and TechnologyShanghai 200093China School of Intelligent Emergency Management University of Shanghai for Science and TechnologyShanghai 200093China School of Management Henan University of Science and TechnologyLuoyang 471023China

While the interaction between information and disease in static networks has been extensively investigated,many studies have ignored the characteristics of network *** this study,we construct a new two-layer coupling model to explore the interactions between information and *** upper layer describes the diffusion of disease-related information,and the lower layer represents the disease *** then use power-law distributions to examine the influence of asymmetric activity levels on dynamic propagation,revealing a mapping relationship characterizing the interconnected propagation of information and diseases among partial nodes within the ***,we derive the disease outbreak threshold by using the microscopic Markov-chain approach(MMCA).Finally,we perform extensive Monte Carlo(MC)numerical simulations to verify the accuracy of our theoretical *** findings indicate that the activity levels of individuals in the disease transmission layer have a more significant influence on disease transmission compared with the individual activity levels in the information diffusion ***,reducing the damping factor can delay disease outbreaks and suppress disease transmission,while improving individual quarantine measures can contribute positively to disease *** study provides valuable insights into policymakers for developing outbreak prevention and control strategies.

关键词： information diffusion disease transmission asymmetric activity levels quarantine strength

OsNAC120 balances plant growth and drought tolerance by integrating GA and ABA signaling in rice

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Plant Communications 2024年第3期5卷 197-215页

作者： Zizhao Xie liang Jin ying Sun Chenghang Zhan Siqi Tang Tian Qin Nian Liu Junli Huang Key Laboratory of Biorheological Science and Technology of Ministry of Education Bioengineering College of Chongqing UniversityChongqingChina

The crosstalk between gibberellin(GA)and abscisic acid(ABA)signaling is crucial for balancing plant growth and adaption to environmental ***,the molecular mechanism of their mutual antagonism still remains to be fully *** this study,we found that knockout of the rice NAC(NAM,ATAF1/2,CUC2)tran-scription factor gene OsNAC120 inhibits plant growth but enhances drought tolerance,whereas OsNAC120 overexpression produces the opposite *** GA can rescue the semi-dwarf phenotype of osnac120 mutants,and further study showed that OsNAC120 promotes GA biosynthesis by transcriptionally activating the GA biosynthetic genes OsGA20ox1 and *** DELLA protein SLENDER RICE1(SLR1)interacts with OsNAC120 and impedes its transactivation ability,and GA treatment can remove the inhi-bition of transactivation activity caused by *** the other hand,OsNAC120 negatively regulates rice drought tolerance by repressing ABA-induced stomatal *** investigation revealed that OsNAC120 inhibits ABA biosynthesis via transcriptional repression of the ABA biosynthetic genes OsNCED3 and *** OSMOTIC STRESS/ABA-ACTIVATED PROTEIN KINASE 9(OsSAPK9)physically interacts with OsNAC120 and mediates its phosphorylation,which results in OsNAC120 *** treatment ac-celerates OsNAC120 degradation and reduces its transactivation ***,ourndings provide evi-dencethatOsNAC120playscriticalrolesinbalancingGA-mediatedgrowthandABA-induceddroughttolerance in *** research will help us to understand the mechanisms underlying the trade-off between plant growth and stress tolerance and to engineer stress-resistant,high-yielding crops.

关键词： abscisic acid ABA drought stress gibberellin GA OsNAC120 OsSAPK9 rice Oryza sativa L. SLR1

Highly Thermally Conductive Polydimethylsiloxane Composites with Controllable 3D GO@f-CNTs Networks via Self-sacrificing Template Method

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Chinese Journal of Polymer Science 2024年第7期42卷 897-906,I0005页

作者： Shuang-Shuang Wang Dian-ying Feng zhi-Ming Zhang Xia Liu Kun-Peng Ruan Yong-Qiang Guo Jun-Wei Gu Shaanxi Key Laboratory of Macromolecular Science and Technology School of Chemistry and Chemical EngineeringNorthwestern Polytechnical UniversityXi’an710072China Shandong Institute of Nonmetallic Materials Jinan250031China Queen Mary University of London Engineering School Northwestern Polytechnical UniversityXi’an710072China

Constructing controllable thermal conduction networks is the key to efficiently improve thermal conductivities of polymer *** this work,graphite oxide(GO)and functionalized carbon nanotubes(f-CNTs)are combined to prepare“Line-Plane”-like hetero-structured thermally conductive GO@f-CNTs fillers,which are then performed to construct controllable 3D GO@f-CNTs thermal conduction networks via selfsacrificing template method based on oxalic ***,thermally conductive GO@f-CNTs/polydimethylsiloxane(PDMS)composites are fabricated via casting *** the size of oxalic acid is 0.24 mm and the volume fraction of GO@f-CNTs is 60 vol%,GO@f-CNTs/PDMS composites present the optimal thermal conductivity coefficient(λ,4.00 W·m^(-1)·K^(-1)),about 20 times that of theλof neat PDMS(0.20 W·m^(-1)·K^(-1)),also much higher than theλ(2.44 W·m^(-1)·K^(-1))of GO/f-CNTs/PDMS composites with the same amount of randomly dispersed ***,the obtained GO@f-CNTs/PDMS composites have excellent thermal stability,whoseλdeviation is only about 3%after 500 thermal cycles(20-200℃).

关键词： Polydimethylsiloxane Hetero-structured thermally conductive fillers Self-sacrificing template Thermal conduction networks

Dry eye disease in systemic lupus erythematosus: a cross sectional study

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International Journal of Ophthalmology(English edition) 2024年第7期17卷 1255-1261页

作者： Sui-Fang Kang ying-Xue Wang Qi-Chen Zhang zhi-Lun Wang Guo-Ling Chen Department of Ophthalmology the Second Hospital of Shandong UniversityJinan 250033Shandong ProvinceChina Department of Rheumatology the Second Hospital of Shandong UniversityJinan 250033Shandong ProvinceChina

AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)***:Ophthalmological examinations were conducted in SLE patients(n=43)and controls(n=41),including Ocular Surface Disease Index(OSDI),objective scatter index(OSI),tear meniscus height(TMH),lipid layer thickness(LLT),non-invasive Keratograph tear breakup time(NIKBUT),corneal fluorescein score(CFS),Schirmer I *** was diagnosed according to the Tear Film and Ocular Surface Society Dry Eye Workshop II *** patients were further divided into DED group and non-DED group,the disease activity,clinical manifestations and laboratory investigations were compared between the two *** disease activity was evaluated by Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI-2K).Receiver operative characteristic(ROC)curve and multiplefactor binary logistic regression were ***:SLE patients showed higher OSDI[9.1(2.8-15.9)vs 6.3(2.2-7.5),P=0.035],higher OSI[1.67(1.09-2.60)vs 0.96(0.87-1.60),P=0.001],higher CFS[1(0-2)vs 0(0-1),P=0.001],lower LLT[65(42-100)vs 100(79.5-100),P=0.010],and lower NIKBUT[8.03(4.02-9.73)vs 9.67(5.26-12.71),P=0.030]than *** 32.6%of SLE patients had DED,which was higher than 12.2%of healthy *** group showed higher SLEDAI-2K score[9.7±6.1 vs 5.4±3.4,P=0.025],higher anti-cardiolipin antibody(ACL)[8.7(3.5-13.2)vs 3.6(2.0-6.9),P=0.035],and higher proportion of patients with cutaneous eruption[42.9%vs 6.9%,P=0.015]than non-DED *** to multiple-factor binary logistic regression analysis,the SLEDAI-2K score(OR=1.194,P=0.041)and cutaneous eruption(OR=7.094,P=0.045)could be consider as risk factors for DED in SLE *** ROC curve of the combined factors including age,disease duration,SLEDAI-2K score,ACL,and cutaneous eruption was analyzed,with a sensitivity of 0.786,a specificity of 0.793,and an area under curve of ***:Ocular surface affec

关键词： autoimmune disease systemic lupus erythematosus dry eye disease

Association between Serum Ferritin Levels and Metabolic-associated Fatty Liver Disease in Adults:a Cross-sectional Study Based on the NHANES

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Current Medical Science 2024年第3期44卷 494-502页

作者： Jiang-hui LI Xue-yao MA Yun YI Lu-rao LI zhi-yong XU ying CHANG Department of Gastroenterology Zhongnan Hospital of Wuhan UniversityWuhan430071China Hubei Clinical Center and Key Laboratory of Intestinal and Colorectal Diseases Wuhan430071China Endoscopy Center The People’s Hospital of YingshanHuanggang438799China

Objective Ferritin,initially acting as an iron-storage protein,was found to be associated with metabolic *** study was designed to investigate the association between serum ferritin and metabolic-associated fatty liver disease(MAFLD)using data from the National Health and Nutrition Examination Survey(NHANES)of the United State of *** A cross-sectional study was conducted,enrolling a total of 2145 participants from the NHANES in the 2017–2018 *** steatosis and liver fibrosis were assessed by ultrasound images and several non-invasive *** regression analysis was conducted to determine the associations between serum ferritin concentration and MAFLD and liver *** The analysis revealed that participants with higher serum ferritin levels(Q3 and Q4 groups)had a higher prevalence of MAFLD than those with the lowest serum ferritin levels[Q3 vs.Q1:OR=2.17(1.33,3.53),P<0.05 in fatty liver index(FLI);Q4 vs.Q1:OR=3.13(1.91,5.13),P<0.05 in FLI].Additionally,participants with the highest serum ferritin levels(Q4 group)displayed a higher prevalence of liver fibrosis[Q4 vs.Q1:OR=2.59(1.19,5.62),P<0.05 in liver stiffness measurement;OR=5.06(1.12,22.94),P<0.05 in fibrosis-4 index],with significantly increased risk observed in participants with concomitant diabetes[OR=7.45(1.55,35.72),P=0.012].Conclusion Our study revealed that elevated serum ferritin levels are associated with a higher prevalence of MAFLD and advanced liver fibrosis in *** serum ferritin levels combined with diabetes are important risk factors for liver fibrosis.

关键词： serum ferritin liver fibrosis metabolic-associated fatty liver disease National Health and Nutrition Examination Survey

Intrahepatic portal venous systems in adult patients with cavernous transformation of portal vein: Imaging features and a new classification

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Hepatobiliary & Pancreatic Diseases International 2024年第5期23卷 481-486页

作者： Xin Huang Qian Lu Yue-Wei Zhang Lin Zhang zhi-Zhong Ren Xiao-Wei Yang ying Liu Rui Tang Hepatopancreatobiliary Center Beijing Tsinghua Changgung HospitalSchool of Clinical MedicineTsinghua UniversityBeijing 102218China

Background: Cavernous transformation of the portal vein(CTPV) due to portal vein obstruction is a rare vascular anomaly defined as the formation of multiple collateral vessels in the hepatic hilum. This study aimed to investigate the imaging features of intrahepatic portal vein in adult patients with CTPV and establish the relationship between the manifestations of intrahepatic portal vein and the progression of CTPV. Methods: We retrospectively analyzed 14 CTPV patients in Beijing Tsinghua Changgung Hospital. All patients underwent both direct portal venography(DPV) and computed tomography angiography(CTA) to reveal the manifestations of the portal venous system. The vessels measured included the left portal vein(LPV), right portal vein(RPV), main portal vein(MPV) and the portal vein bifurcation(PVB). Results: Nine males and 5 females, with a median age of 40.5 years, were included in the study. No significant difference was found in the diameters of the LPV or RPV measured by DPV and CTA. The visualization in terms of LPV, RPV and PVB measured by DPV was higher than that by CTA. There was a significant association between LPV/RPV and PVB/MPV in term of visibility revealed with DPV( P = 0.01), while this association was not observed with CTA. According to the imaging features of the portal vein measured by DPV, CTPV was classified into three categories to facilitate the diagnosis and treatment. Conclusions: DPV was more accurate than CTA for revealing the course of the intrahepatic portal vein in patients with CTPV. The classification of CTPV, that originated from the imaging features of the portal vein revealed by DPV, may provide a new perspective for the diagnosis and treatment of CTPV.

关键词： Cavernous transformation of the portal vein Classification Direct portal venography Intrahepatic portal venous system