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New recessive compound heterozygous variants of RP1l1 in RP1l1 maculopathy

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 107-112页

作者： Wen-Chao Cao Qing-Shan Chen Run Gan Tao Huang Xiao-He yan The Second Clinical Medical College Jinan UniversityShenzhen 518040Guangdong ProvinceChina Shenzhen Eye Hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChin

AIM:To identify a maculopathy patient caused by new recessive compound heterozygous variants in ***:Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1l1 *** sequence capture array technique was used to screen potential pathologic *** chain reaction and Sanger sequencing were used to confirm the screening ***:Fundus examination showed round macular lesions appeared in both *** coherence tomography showed that the inner segment/outer segment continuity was disorganized and disruptive in the left eye,but it was uneven and slightly elevated in the right *** autofluorescence showed patchy hyper-autofluorescence in the *** field examination indicates central defects in both ***(ERG)and multifocal ERG showed no obvious *** fluorescein angiography in the macula showed obviously irregular hyper-fluorescence in the right eye and slightly hyper-fluorescence in the left *** found that the proband carried a missense variant(c.1972C>T)and a deletion variant(c.4717_4718del)of RP1l1,which were originated from the parents and formed compound heterozygous *** variants are likely pathogenic according to the ACMG *** imaging,ERG and detailed medical history are important diagnostic tools for differentiating between acquired and inherited retinal ***:A maculopathy case with detailed retinal phenotype and new recessive compound heterozygous variants of RP1l1 is identified in a Chinese family,which expands the understanding of phenotype and genotype in RP1l1 maculopathy.

关键词： maculopathy recessive compound heterozygous variants RP1l1

Enhancing XRF sensor-based sorting of porphyritic copper ore using particle swarm optimization-support vector machine(PSO-SVM)algorithm

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International Journal of Mining Science and Technology 2024年第4期34卷 545-556页

作者： Zhengyu liu Jue Kou Zengxin yan Peilong Wang Chang liu Chunbao Sun Anlin Shao Bern Klein School of Civil and Resources Engineering University of Science and TechnologyBeijing 100083China Institute of Minerals Research University of Science and TechnologyBeijing 100083China State Key laboratory of Mineral Processing Beijing 102628China Ansteel Group Mining Co.ltd. Anshan 114000China Norman B.Keevil Institute of Mining Engineering University of British ColumbiaVancouverBC V6T 1Z4Canada

X-ray fluorescence(XRF)sensor-based ore sorting enables efficient beneficiation of heterogeneous ores,while intraparticle heterogeneity can cause significant grade detection errors,leading to misclassifications and hindering widespread technology *** classification models are crucial to determine if actual grade exceeds the sorting threshold using localized XRF *** studies mainly used linear regression(lR)algorithms including simple linear regression(SlR),multivariable linear regression(MlR),and multivariable linear regression with interaction(MlRI)but often fell short attaining satisfactory *** study employed the particle swarm optimization support vector machine(PSO-SVM)algorithm for sorting porphyritic copper ore ***-scale results showed PSO-SVM out-performed lR and raw data(RD)models and the significant interaction effects among input features was *** poor input data quality,PSO-SVM demonstrated exceptional ***-scale sorting achieved 93.0%accuracy,0.24%grade increase,84.94%recovery rate,57.02%discard rate,and a remarkable 39.62 yuan/t net smelter return(NSR)increase compared to no *** improvements were achieved by the PSO-SVM model with optimized input combinations and highest data quality(T=10,T is XRF testing times).The unsuitability of lR methods for XRF sensor-based sorting of investigated sample is *** element selection and mineral association analysis elucidate element importance and influence mechanisms.

关键词： XRF sensor-based sorting PSO-SVM algorithm Copper ore pebble Receiver operating curve(ROC) Net smelter return(NSR)

Insights into plant salt stress signaling and tolerance

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Journal of Genetics and Genomics 2024年第1期51卷 16-34页

作者： Huapeng Zhou Haifan Shi Yongqing yang Xixian Feng Xi Chen Fei Xiao Honghui lin yan Guo Key laboratory of Bio-Resource and Eco-Environment of Ministry of Education College of Life SciencesSichuan UniversityChengduSichuan 610064China State Key laboratory of Plant Environmental Resilience China Agricultural UniversityBeijing 100193China College of Grassland Science Nanjing Agricultural UniversityNanjingJiangsu 210095China Xinjiang Key laboratory of Biological Resources and Genetic Engineering College of Life Science and TechnologyXinjiang UniversityUrumqiXinjiang 830046China

Soil salinization is an essential environmental stressor,threatening agricultural yield and ecological security *** soils accumulate excessive soluble salts which are detrimental to most plants by limiting plant growth and *** is of great necessity for plants to efficiently deal with the adverse effects caused by salt stress for survival and successful *** determinants of salt tolerance have been identified in plants,and the cellular and physiological mechanisms of plant salt response and adaption have been intensely *** respond to salt stress signals and rapidly initiate signaling pathways to re-establish cellular homeostasis with adjusted growth and cellular *** review summarizes the advances in salt stress perception,signaling,and response in plants.A better under-standing of plant salt resistance will contribute to improving crop performance under saline conditions using multiple engineering *** rhizosphere microbiome-mediated plant salt tolerance as well as chemical priming for enhanced plant salt resistance are also discussed in this review.

关键词： Salt stress Salt perception Salt response and signaling Plant salt tolerance Chemical priming Rhizosphere microbiome

Impacts of Integrated Multi-Trophic Aquaculture on Phytoplankton in Sanggou Bay

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Journal of Ocean University of China 2024年第3期23卷 835-843页

作者： HAN Jichang lIU Xing PAN Kehou lIU Jiaojiao SUN yan JIN Guiyong lI Yun lI Yuhang College of Food Science and Engineering Ningbo UniversityNingbo 315832China Key laboratory of Mariculture(Ocean University of China) Ministry of EducationQingdao 266003China Function laboratory for Marine Fisheries Science and Food Production Processes Qingdao National Laboratory for Marine Science and TechnologyQingdao 266100China laboratory of Marine Organism Taxonomy and Phylogeny Institute of OceanologyChinese Academy of SciencesQingdao 266071China

Integrated multi-trophic aquaculture(IMTA)has been considered as an ecofriendly culture system providing a potential solution to environmental risks caused by intensive monoculture ***,the impact of IMTA on phytoplankton remains *** this study,the spatial and temporal variations of phytoplankton in Sanggou Bay were investigated seasonally based on 21 sampling sites covering three cultivation zones(bivalve zone,IMTA zone,and kelp zone)and one control zone(without aquatic cultivation).In total,128 phytoplankton species,with diatoms and dinoflagellates as the dominant groups,were obtained across the whole year,and the mean Shannon diversity index(H')and species richness(SR)were determined as 1.39 and 9.39,*** maximum chlorophyll a(Chl-a)(6.32μg l^(-1))and plankton diversity(H'of 1.97)occurred in summer and autumn,*** to other zones,the bivalve zone displayed significantly higher Chl-a and lower H'in majority of *** PERMANOVA analysis indicated that the phytoplankton assemblage in the bivalve zone was significantly different with the control and kelp zones,while the IMTA zone maintained close to other three *** on generalized additive models,temperature,NO_(2)^(-)-N,N/P ratio,SiO_(3)^(2-)-Si,and salinity were determined as the key factors underlying Chl-a and phytoplankton ***-tionally,the results of redundancy analysis further indicated that the phytoplankton assemblage in the bivalve zone is positively re-lated with nutrients such as NO_(3)^(-)-N and NH_(4)^(+)-N as well as water depth,while the phytoplankton assemblages in the kelp,control,and IMTA zones are associated with NO_(2)^(-)-N,SiO_(3)^(2-)-Si,and *** all observations into consideration together,it can be inferred that IMTA can effectively reduce Chl-a level compared to bivalve monoculture by reducing the ***,the SR,H’,and species composition of phytoplankton are primarily determined by local environment fa

关键词： phytoplankton diversity Sanggou Bay integrated multi-trophic aquaculture

MMP-9 deficiency accelerates the progress of periodontitis

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Genes & Diseases 2024年第5期11卷 117-121页

作者： Chun-yan Wan Yixin Yin Xiaoyan li Meng Meng liu Graham Goldman li-An Wu Feng Wang Dao-Shu luo Zhuo Chen Wen-An Xu Stephen Chen Mary MacDougall Merry l.lindsey Zhi Chen Shuo Chen Department of Endodontics The Affiliated Hospital of Qingdao UniversitySchool of StomatologyQingdao UniversityQingdaoShandong 266003China Department of Developmental Dentistry School of DentistryThe University of Texas Health Science Center at San AntonioSan AntonioTX 78229USA Oral Implantology Center Jinan Stomatological HospitalJinanShandong 250001China Department of Endodontics School and Hospital of StomatologyCheeloo College of MedicineShandong Key Laboratory of Oral Tissue RegenerationShandong Engineering Laboratory for Dental Materials and Oral Tissue RegenerationShandong UniversityJinanShandong 250012China Department of Pediatric Dentistry School of StomatologyThe Fourth Military Medical UniversityXi’anShaanxi 710032China laboratory of Clinical Applied Anatomy Department of Human AnatomySchool of Basic Medical SciencesFujian Medical UniversityFuzhouFujian 350108China Key laboratory for Oral Biomedical Research of Zhejiang Province Affiliated Hospital of StomatologyMedical CollegeZhejiang UniversityHangzhouZhejiang 310027China Department of Stomatology Nanfang HospitalSouthern Medical UniversityGuangzhouGuangdong 510515China UBC Faculty of Dentistry University of British ColumbiaVancouverBC V6T 1Z3Canada School of Graduate Studies and Research Meharry Medical College and Research BiologistResearch Service Nashville VA Medical CenterNashvilleTN 37208USA State Key laboratory Breeding Base of Basic Science of Stomatology(Hubei-MOST) Key Laboratory for Oral Biomedicine of Ministry of Education(KLOBM)School and Hospital of StomatologyWuhan UniversityWuhanHubei 430079China

Periodontitis is a chronic inflammatory disease caused by periodontopathic bacteria that affects periodontal support tissues.1 If left untreated,it results in loss of periodontal attachment and alveolar bone *** one-half of adults in the United States older than 30 years have periodontal disease.2 Though the disease is initiated by bacterial infection,it activates host defense systems that eventually lead to the degradation of the *** periodontitis,the disease progress involves further production of pro-inflammatory mediators such as cytokines,proteolytic enzymes like matrix metalloproteinases(MMPs),and their inhibitors.

关键词： period eventually untreated

Simultaneous enhanced ammonia and nitrate removal from secondary effluent in constructed wetlands using a new manganese-containing substrate

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Frontiers of Environmental Science & Engineering 2024年第4期18卷 91-102页

作者： Zhihao Xian Jun yan Jingyi Dai Hao Wu Xin Zhang Wenbo Nie Fucheng Guo Yi Chen Key laboratory of the Three Gorges Reservoir Region’s Eco-Environment(Ministry of Education) Chongqing UniversityChongqing 400044China College of Environment and Ecology Chongqing UniversityChongqing 400044China

Constructed wetlands(CWs)are widely used to treat secondary ***,simultaneously removing ammonia(NH_(4)^(+)-N)and nitrate(NO_(3)^(–)–N)is challenging because of insufficient oxygen and carbon *** this study,a novel composite material(MPCM)comprising MnO_(2) and polycaprolactone was developed as a substrate for CWs to enhance the synchronous removal of NH_(4)^(+)–N and NO_(3)^(–)–*** CWs with a higher MPCM content(H-CW),lower MPCM content(lCW),and controlled CW(C-CW)exhibited average NH_(4)^(+)–N removal efficiencies of 75.69%,70.49%,and 52.40%,*** 15N isotope tracking technique showed that NH_(4)^(+)–N removal was attributed to anaerobic ammonia oxidation mediated by MnO2 reduction(Mnammox),which accounted for 17.16%–27.24%of the NH_(4)^(+)–N removal in the composite material layers(0–20 cm)of the H-CW and *** richness of ammonia oxidizers in the upper layers(40–50 cm)of the HCW and l-CW further facilitated NH_(4)^(+)–N ***,the average total nitrogen(TN)removal efficiencies of the H-CW and l-CW were 1.99 and 1.59 times that of C-CW,respectively,owing to enhanced denitrification by ***,N_(2)O emissions were reduced by 81.31%and 70.83%in the H-CW and l-CW,*** study provides an effective approach for improving nitrogen removal and reducing N2O emissions during the treatment of secondary effluent by CWs.

关键词： Constructed wetland Nitrogen removal Manganese redox Polycaprolactone Nitrous oxide

Evaluating new biomarkers for diabetic nephropathy:Role ofα2-macroglobulin,podocalyxin,α-l-fucosidase,retinol-binding protein-4,and cystatin C

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World Journal of Diabetes 2024年第6期15卷 1212-1225页

作者： Jing-Jing li Ru-la Sa Yu Zhang Zhao-li yan Department of Infectious Diseases Inner Mongolia Medical UniversityHohhot First HospitalHohhot 010000Inner Mongolia Autonomous RegionChina Department of Endocrinology The Affiliated Hospital of Inner Mongolia Medical UniversityHohhot 010000Inner Mongolia Autonomous RegionChina Department of Dermatology Inner Mongolia Autonomous Region People’s HospitalHohhot 010000Inner Mongolia Autonomous RegionChina

BACKGROUND The intricate relationship between type 2 diabetes mellitus(T2DM)and diabetic nephropathy(DN)presents a challenge in understanding the significance of various biomarkers in *** To elucidate the roles and diagnostic values ofα2-macroglobulin(α2-MG),podocalyxin(PCX),α-l-fucosidase(AFU),retinol-binding protein-4(RBP-4),and cystatin C(CysC)in *** From December 2018 to December 2020,203 T2DM patients were enrolled in the *** these,115 were diagnosed with DN(115 patients),while the remaining 88 patients were classified as *** urinary levels ofα2-MG,PCX,and AFU and the serum concentrations RBP-4 and CysC were measured in conjunction with other relevant clinical indicators to evaluate their potential correlations and diagnostic *** After adjustments for age and gender,significant positive correlations were observed between the biomarkers CysC,RBP-4,α2-MG/urinary creatinine(UCr),PCX/UCr,and AFU/UCr,and clinical indicators such as urinary albumin-to-creatinine ratio(UACR),serum creatinine,urea,24-h total urine protein,and neutrophil-to-lymphocyte ratio(NlR).Conversely,these biomarkers exhibited negative correlations with the estimated glomerular filtration rate(Plysis further demonstrated the diagnostic performance of these biomarkers,with UACR showcasing the highest area under the ROC curve(AUC^(ROC))at *** This study underscores the diagnostic significance ofα2-MG,PCX,and AFU in the development of *** biomarkers RBP-4,CysC,PCX,AFU,andα2-MG provide promising diagnostic insights,while UACR is the most potent diagnostic biomarker in assessing DN.

关键词： α2-macroglobulin Podocalysin α-l-fucosidase Retinol binding protein-4 Cystatin C Diabetic nephropathy

单级固定床生物膜反应器主流厌氧氨氧化快速启动性能

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化工进展 2024年第4期43卷 2201-2209页

作者：海岩周鑫李艳太原理工大学环境科学与工程学院山西晋中030600 山西省市政工程研究生教育创新中心山西晋中030600

主流厌氧氨氧化(Anammox)是城市污水脱氮的热点和难点问题。本研究采用单级固定床生物膜反应器(SFBR)处理模拟城市污水,通过间歇运行切换和微氧(DO:0.4~0.7mg/l)控制,65天后成功启动Anammox。系统对氨氮和总氮去除率分别达98.8%和92.6%... 详细信息

主流厌氧氨氧化(Anammox)是城市污水脱氮的热点和难点问题。本研究采用单级固定床生物膜反应器(SFBR)处理模拟城市污水,通过间歇运行切换和微氧(DO:0.4~0.7mg/l)控制,65天后成功启动Anammox。系统对氨氮和总氮去除率分别达98.8%和92.6%。此时生物膜结构致密,呈现红色。微生物活性测试发现,厌氧氨氧化菌活性在所有功能菌活性中最高。高通量测序证实厌氧氨氧化菌(Candidatus Brocadia)、短程反硝化菌(Thauera)和硝化菌(Nitrospira)共存,而未检测到氨氧化菌。amoA功能基因扩增子测序进一步分析表明,Nitrospira实际为全程氨氧化菌(Comammox)。因此,系统是在具有氧分层的生物膜内通过全程硝化/短程反硝化/厌氧氨氧化途径耦合实现城市污水脱氮。研究结果为主流Anammox快速实现提供了一种新的工艺思路。

关键词：生物膜固定床反应器主流厌氧氨氧化快速启动脱氮

Metastatic stomach lymphoepithelioma-like carcinoma and immune checkpoint inhibitor therapy:A case report

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World Journal of Gastrointestinal Surgery 2024年第5期16卷 1436-1442页

作者： Guo-Feng Chen Jun Wang Yu yan Song Xu Jian Chen Department of Gastroenterology Surgery The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina Cancer Center Zhejiang UniversityHangzhou 310000Zhejiang ProvinceChina Department of Pathology The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina Department of Gastroenterology The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Pulmonary lymphoepithelioma-like carcinoma(PlElC)is a rare type of nonsmall-cell lung *** lymphoepithelioma-like carcinoma(lElC)metastasis secondary to PlElC has not been reported *** SUMMARY A 64-year-old female was admitted to our hospital for a regular gastroscopy examination with a 6-year history of surgical resection for left *** emission tomography/computed tomography suggested high accumulation of 18F-fludeoxyglucose in the gastric cardia *** gastrointestinal endoscopy confirmed a large mass at the stomach ***(IHC)of the biopsy suggested metastatic stomach *** gastrectomy showed that this 6.5 cm×5.0 cm mass was located in the stomach fundus near the *** examination showed a poorly differentiated carcinoma with prominent lymphoplasmacytic *** demonstrated that the tumor was positive for CK(AE1/AE3),p63,p40,p53,Ki-67(70%),and EGFR(3+)and negative for CK7,CK20,Her2,and *** situ hybridization analysis showed positive staining Epstein-Barr virus-encoded *** programmed cell death ligand 1(PD-l1)expression score was 98%,and the combined positive score was 100,with no evidence of microsatellite ***,the patient was unequivocally diagnosed with metastatic stomach lElC secondary to pulmonary *** discharge,this patient underwent PD-1 inhibitor treatment(toripalimab,240 mg)every 3 wk for ten cycles,and she has had no tumor *** For gastric lElC metastasis,PD-1 inhibitor therapy could become a new therapeutic approach,though there is still no evidence from large data sets to support this.

关键词： Stomach neoplasm Pulmonary lymphoepithelioma-like carcinoma Metastasis Immune checkpoint inhibitor Case report