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Proteolipidprotein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease

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Chinese Medical Journal 2008年第17期121卷 1638-1642页

作者： WANG Jing-min WU Ye WANG Hui-fang deng yan-hua yanG yan-ling QIN Jiong LI Xin-yi WU Xi-ru JIANG Yu-wu Department of Pediatrics Peking University First Hospital Beijing 100034 China Department of Neurology First Hospital Affiliated to Shanxi Medical University Taiyuan Shanxi 030001 China

Background Pelizaeus-Merzbacher disease （PMD） is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, ataxia, and progressive spasticity. The proteolipidprotein 1 （PLP1） gene is the only pathogenic gene of PMD. Duplication of the PLP1 gene is the most frequent gene defect, accounting for 50%-70% of PMD cases, whereas point mutations in the coding sequence or the splice sites account for 10%-25% of PMD cases. This study aimed to identify PLP1 mutations in nine unrelated Chinese patients （P1-9） with PMD, and 14 subjects from the family of patient 2 were also described. Methods Genomic DNA was extracted from peripheral multiplex ligation-dependent probe amplification （MLPA）. AI amplified and analyzed using direct DNA sequencing. blood samples. Gene dosage was determined using the 7 exons and exon-intron boundaries of the PLP1 gene were Results Of these nine patients, there were four transitional, four classical, and one connatal PMD according to their clinical and radiological presentations. PLP1 duplications were identified in patients 1-7 with PMD. Their mothers were PLPI duplications carriers as well. Both duplication carriers and normal genotypes of PLP1 were identified in the family members of patient 2. A c.517C〉T （p. P173S） hemizygous missense mutation in exon 4 was found in patient 8 with PMD, and his mother was shown to be a heterozygote of this mutation. Conclusions We identified seven genomic duplications and one missense mutation （p. P173S） of the PLP1 gene in eight Chinese patients with PMD. This is the report about PLP1 mutations in PMD patients from the mainland of China.

关键词： Pelizaeus-Merzbacher disease proteolipid protein 1 gene multiplex ligation-dependent probeamplification mutation

Strong light–matter interactions based on excitons and the abnormal all-dielectric anapole mode with both large field enhancement and low loss

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Photonics Research 2024年第4期12卷 854-864页

作者： yan-HUI deng YU-WEI LU HOU-JIAO ZHANG ZHONG-HONG SHI ZHANG-KAI ZHOU XUE-hua WANG State Key Laboratory of Optoelectronic Materials and Technologies School of PhysicsSun Yat-sen UniversityGuangzhou 510275China Quantum Science Center of Guangdong–Hong Kong–Macao Greater Bay Area(Guangdong) Shenzhen 518045China

The room temperature strong coupling between the photonic modes of micro/nanocavities and quantum emitters(QEs) can bring about promising advantages for fundamental and applied physics.Improving the electric fields(EFs) by using plasmonic modes and reducing their losses by applying dielectric nanocavities are widely employed approaches to achieve room temperature strong coupling.However,ideal photonic modes with both large EFs and low loss have been lacking.Herein,we propose the abnormal anapole mode (AAM),showing both a strong EF enhancement of~70-fold (comparable to plasmonic modes) and a low loss of 34 meV,which is much smaller than previous records of isolated all-dielectric nanocavities.Besides realizing strong coupling,we further show that by replacing the normal anapole mode with the AAM,the lasing threshold of the AAM-coupled QEs can be reduced by one order of magnitude,implying a vital step toward on-chip integration of nanophotonic devices.

关键词： dielectric mode coupling

HHO optimized support vector machine classifier for traditional Chinese medicine syndrome differentiation of diabetic retinopathy

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International Journal of Ophthalmology(English edition) 2024年第6期17卷 991-1000页

作者： Li Xiao Cheng-Wu Wang Ying deng Yi-Jing yang Jing Lu Jun-Feng yan Qing-hua Peng School of Chinese Medicine Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina School of Informatics Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina Hunan Provincial Key Laboratory for Prevention and Treatment of Ophthalmology and Otolaryngology Diseases with Chinese Medicine Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina Hunan Provincial Engineering and Technological Research Center for Prevention and Treatment of Ophthalmology and Otolaryngology Diseases with Chinese Medicine and Protecting Visual Function Hunan University of Chinese MedicineChangsha 410208Hunan ProvinceChina

AIM:To develop a classifier for traditional Chinese medicine(TCM)syndrome differentiation of diabetic retinopathy(DR),using optimized machine learning algorithms,which can provide the basis for TCM objective and intelligent syndrome differentiation.METHODS:Collated data on real-world DR cases were collected.A variety of machine learning methods were used to construct TCM syndrome classification model,and the best performance was selected as the basic model.Genetic Algorithm(GA)was used for feature selection to obtain the optimal feature combination.Harris Hawk Optimization(HHO)was used for parameter optimization,and a classification model based on feature selection and parameter optimization was constructed.The performance of the model was compared with other optimization algorithms.The models were evaluated with accuracy,precision,recall,and F1 score as indicators.RESULTS:Data on 970 cases that met screening requirements were collected.Support Vector Machine(SVM)was the best basic classification model.The accuracy rate of the model was 82.05%,the precision rate was 82.34%,the recall rate was 81.81%,and the F1 value was 81.76%.After GA screening,the optimal feature combination contained 37 feature values,which was consistent with TCM clinical practice.The model based on optimal combination and SVM(GA_SVM)had an accuracy improvement of 1.92%compared to the basic classifier.SVM model based on HHO and GA optimization(HHO_GA_SVM)had the best performance and convergence speed compared with other optimization algorithms.Compared with the basic classification model,the accuracy was improved by 3.51%.CONCLUSION:HHO and GA optimization can improve the model performance of SVM in TCM syndrome differentiation of DR.It provides a new method and research idea for TCM intelligent assisted syndrome differentiation.

关键词： traditional Chinese medicine diabetic retinopathy Harris Hawk Optimization Support Vector Machine syndrome differentiation

Adsorptive interaction between typical VOCs and various topological zeolites:Mixture effect and mechanism

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Journal of Environmental Sciences 2024年第2期136卷 626-636页

作者： Bo Yu hua deng Yuqin Lu Tingting Pan Wenpo Shan Hong He Center for Excellence in Regional Atmospheric Environment and Key Laboratory of Urban Pollutant Conversion Institute of Urban EnvironmentChinese Academy of SciencesXiamen 361021China University of Chinese Academy of Sciences Beijing 100049China State Key Joint Laboratory of Environment Simulation and Pollution Control Research Center for Eco-Environmental SciencesChinese Academy of SciencesBeijing 100085China

Adsorption is one of the most feasible and effective methods to alleviate the volatile organic compounds(VOCs)pollution.However,the mixture effect and mechanism for competitive adsorption of VOCs on zeolites are barely addressed.In this study,toluene,acetone,and ethyl acetate as prevalent VOCs species were removed by four potential zeolites(13X,USY,Beta,ZSM-5)in both single-and multi-component systems.The structure-property relationship between adsorbate-adsorbent pairs was revealed by X-ray diffraction,scanning electron microscopy,energy dispersive spectrometer,X-ray fluorescence,N_(2) adsorption and density function theory calculation.The molecular polarity and volatility of VOCs species played key roles in adsorption and the dynamic uptakes were generally listed as follows:ethyl acetate>toluene>acetone.As for the above VOCs mixtures,13X zeolite selectively adsorbed oxygenated VOCs rather than toluene.In contrast,USY exhibited a preference to trap toluene.Ethyl acetate could be readily enriched by ZSM-5 and Beta selectively.The possible explanations and implications are discussed based on the subtle change in electron density.The results obtained are vital for understanding the mixture effect of VOCs adsorption and may guide the selection of proper adsorbent for real applications.

关键词： Adsorption Zeolites VOCs Mixture effect DFT

Significant risk factors for intensive care unit-acquired weakness:A processing strategy based on repeated machine learning

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World Journal of Clinical Cases 2024年第7期12卷 1235-1242页

作者： Ling Wang deng-yan Long Intensive Care Unit People's Hospital of Qiandongnan Miao and Dong Autonomous PrefectureKaili 556000Guizhou ProvinceChina

BACKGROUND Intensive care unit-acquired weakness(ICU-AW)is a common complication that significantly impacts the patient's recovery process,even leading to adverse outcomes.Currently,there is a lack of effective preventive measures.AIM To identify significant risk factors for ICU-AW through iterative machine learning techniques and offer recommendations for its prevention and treatment.METHODS Patients were categorized into ICU-AW and non-ICU-AW groups on the 14th day post-ICU admission.Relevant data from the initial 14 d of ICU stay,such as age,comorbidities,sedative dosage,vasopressor dosage,duration of mechanical ventilation,length of ICU stay,and rehabilitation therapy,were gathered.The relationships between these variables and ICU-AW were examined.Utilizing iterative machine learning techniques,a multilayer perceptron neural network model was developed,and its predictive performance for ICU-AW was assessed using the receiver operating characteristic curve.RESULTS Within the ICU-AW group,age,duration of mechanical ventilation,lorazepam dosage,adrenaline dosage,and length of ICU stay were significantly higher than in the non-ICU-AW group.Additionally,sepsis,multiple organ dysfunction syndrome,hypoalbuminemia,acute heart failure,respiratory failure,acute kidney injury,anemia,stress-related gastrointestinal bleeding,shock,hypertension,coronary artery disease,malignant tumors,and rehabilitation therapy ratios were significantly higher in the ICU-AW group,demonstrating statistical significance.The most influential factors contributing to ICU-AW were identified as the length of ICU stay(100.0%)and the duration of mechanical ventilation(54.9%).The neural network model predicted ICU-AW with an area under the curve of 0.941,sensitivity of 92.2%,and specificity of 82.7%.CONCLUSION The main factors influencing ICU-AW are the length of ICU stay and the duration of mechanical ventilation.A primary preventive strategy,when feasible,involves minimizing both ICU stay and mechanical ventilation duration.

关键词： Intensive care unit-acquired weakness Risk factors Machine learning Prevention Strategies

Scattering of Water Waves by Dual Symmetric Inclined Floating Porous Barriers Using the DBEM

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China Ocean Engineering 2024年第1期38卷 156-168页

作者： WANG Li-xian deng yan-wen YE yang-sha deng Zheng-zhi Key Laboratory of High Performance Ship Technology(Wuhan University of Technology) Ministry of EducationWuhan 430063China School of Naval Architecture Ocean and Energy Power EngineeringWuhan University of TechnologyWuhan 430063China Key Laboratory of Water-Sediment Sciences and Water Disaster Prevention of Hunan Province Changsha 410114China Institute of Port Coastal and Offshore EngineeringZhejiang UniversityZhoushan 316021China

The scattering of normally incident water waves by two surface-piercing inclined perforated barriers in water with a uniform finite depth is investigated within the framework of linear water wave theory.Considering that thin barriers are zero-thickness,a novel numerical method involving the the coupling of the dual boundary element method(DBEM)with damping layers is applied.In order to effectively damp out the reflected waves,two damping layers,instead of pseudoboundaries are implemented near the two side boundaries of the computational domain.Thus,the modified linearized free surface boundary conditions are formulated and used for solving both the ordinary boundary integral equation as well as the hypersingular boundary integral equation for degenerate boundaries.The newly developed numerical method is validated against analytical methods using the matched eigenfunction expansion method for the special case of two vertical barriers or the inclined angle to the vertical being zero.The influence of the length of the two damping layers has been discussed.Moreover,these findings are also validated against previous results for several cases.After validation,the numerical results for the reflection coefficient,transmission coefficient and dissipation coefficient are obtained by varying the inclination angle and porosity-effect parameter.The effects of both the inclination angle and the porosity on the amplitudes of wave forces acting on both the front and rear barriers are also investigated.It is found that the effect of the inclination angle mainly shifts the location of the extremal values of the reflection and the transmission coefficients.Additionally,a moderate value of the porosity-parameter is quite effective at dissipating wave energy and mitigating the wave loads on dual barriers.

关键词： dual boundary element method inclined perforated floating breakwater reflection coefficient transmission coefficient damping layer

Barley Protein LFBEP-C1 from Lactiplantibacillus plantarum dy-1 Fermented Barley Extracts by Inhibiting Lipid Accumulation in a Caenorhabditis elegans Model

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Biomedical and Environmental Sciences 2024年第4期37卷 377-386页

作者： ZHANG Jia yan LIU Meng Ting LIU Yu Hao deng huan BAI Juan XIE Jian hua XIAO Xiang School of Food and Biological Engineering Jiangsu UniversityZhenjiang 212013JiangsuChina State Key Laboratory of Food Science and Technology Nanchang UniversityNanchang 330047JiangxiChina

Objective This study aimed to investigate the lipid-lowering activity of LFBEP-C1 in high glucose-fed Caenorhabditis elegans(C.elegans).Methods In this study,the fermented barley protein LFBEP-C1 was prepared and tested for its potential anti-obesity effects on C.elegans.The worms were fed Escherichia coli OP50(E.coli OP50),glucose,and different concentrations of LFBEP-C1.Body size,lifespan,movement,triglyceride content,and gene expression were analyzed.The results were analyzed using ANOVA and Tukey's multiple comparison test.Results Compared with the model group,the head-swing frequency of C.elegans in the group of LFBEP-C1 at 20μg/mL increased by 33.88%,and the body-bending frequency increased by 27.09%.This indicated that LFBEP-C1 improved the locomotive ability of C.elegans.The average lifespan of C.elegans reached 13.55 days,and the body length and width of the C.elegans decreased after LFBEP-C1 intake.Additionally,LFBEP-C1 reduced the content of lipid accumulation and triglyceride levels.The expression levels of sbp-1,daf-2,and mdt-15 significantly decreased,while those of daf-16,tph-1,mod-1,and ser-4 significantly increased after LFBEP-C1 intake.Changes in these genes explain the signaling pathways that regulate lipid metabolism.Conclusion LFBEP-C1 significantly reduced lipid deposition in C.elegans fed a high-glucose diet and alleviated the adverse effects of a high-glucose diet on the development,lifespan,and exercise behavior of C.elegans.In addition,LFBEP-C1 regulated lipid metabolism mainly by mediating the expression of genes in the sterol regulatory element-binding protein,insulin,and 5-hydroxytryptamine signaling pathways.

关键词： LFBEP-C1 Fermentation Protein Caenorhabditis elegans Lipid accumulation Signaling pathway

Transcatheter arterial chemoembolization combined with PD-1 inhibitors and Lenvatinib for hepatocellular carcinoma with portal vein tumor thrombus

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World Journal of Gastroenterology 2024年第8期30卷 843-854页

作者： Hong-Xiao Wu Xiao-yan Ding Ya-Wen Xu Ming-hua Yu Xiao-Mi Li Na deng Jing-Long Chen Cancer Center Beijing Ditan HospitalCapital Medical UniversityBeijing 100015China

BACKGROUND Hepatocellular carcinoma(HCC)patients complicated with portal vein tumor thrombus(PVTT)exhibit poor prognoses and treatment responses.AIM To investigate efficacies and safety of the combination of PD-1 inhibitor,transcatheter arterial chemoembolization(TACE)and Lenvatinib in HCC subjects comorbid with PVTT.METHODS From January 2019 to December 2020,HCC patients with PVTT types Ⅰ-Ⅳ were retrospectively enrolled at Beijing Ditan Hospital.They were distributed to either the PTL or TACE/Lenvatinib(TL)group.The median progression-free survival(mPFS)was set as the primary endpoint,while parameters like median overall survival,objective response rate,disease control rate(DCR),and toxicity level served as secondary endpoints.RESULTS Forty-one eligible patients were finally recruited for this study and divided into the PTL(n=18)and TL(n=23)groups.For a median follow-up of 21.8 months,the DCRs were 88.9%and 60.9%in the PTL and TL groups(P=0.046),res-pectively.Moreover,mPFS indicated significant improvement(HR=0.25;P<0.001)in PTL-treated patients(5.4 months)compared to TL-treated(2.7 months)patients.There were no treatment-related deaths or differences in adverse events in either group.CONCLUSION A triplet regimen of PTL was safe and well-tolerated as well as exhibited favorable efficacy over the TL regimen for advanced-stage HCC patients with PVTT types Ⅰ-Ⅳ.

关键词： Hepatocellular carcinoma Transcatheter arterial chemoembolization Lenvatinib PD-1 inhibitor Portal vein tumor thrombus

HIF-1α signaling: Essential roles in tumorigenesis and implications in targeted therapies

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Genes & Diseases 2024年第1期11卷 234-251页

作者： yan Zhao Cheng Xing Yating deng Can Ye Hongling Peng Department of Hematology The Second Xiangya HospitalCentral South UniversityChangshaHunan 410011China Hunan Key Laboratory of Tumor Models and Individualized Medicine The Second Xiangya HospitalCentral South UniversityChangshaHunan 410011China Hunan Engineering Research Center of Cell Immunotherapy for Hematopoietic Malignancies The Second Xiangya HospitalCentral South UniversityChangshaHunan 410011China

The hypoxic microenvironment is an essential characteristic of most malignant tu-mors.Notably,hypoxia-inducible factor-1 alpha(HIF-1a)is a key regulatory factor of cellular adaptation to hypoxia,and many critical pathways are correlated with the biological activity of organisms via HIF-1a.In the intra-tumoral hypoxic environment,HIF-1αis highly expressed and contributes to the malignant progression of tumors,which in turn results in a poor prog-nosis in patients.Recently,it has been indicated that HiF-1αinvolves in various critical pro-cesses of life events and tumor development via regulating the expression of HiF-1a target genes,such as cell proliferation and apoptosis,angiogenesis,glucose metabolism,immune response,therapeutic resistance,etc.Apart from solid tumors,accumulating evidence has re-vealed that HiF-1αis also closely associated with the development and progression of hemato-logical malignancies,such as leukemia,lymphoma,and multiple myeloma.Targeted inhibition of HiF-1a can facilitate an increased sensitivity of patients with malignancies to relevant ther-apeutic agents.In the review,we elaborated on the basic structure and biological functions of HIF-1a and summarized their current role in various malignancies.It is expected that they will have future potential fortargeted therapy.

关键词： Angiogenesis Hematological malignancies Hypoxia-inducible factor-1 alpha(HIF-1α) Immune escape Targeted therapy