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Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract

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International Journal of Ophthalmology(English edition) 2018年第10期11卷 1577-1582页

作者： Peng Chen Hao Chen xiao-jing pan Su-Zhen Tang Yu-Jun Xia Hui Zhang Qingdao University Qingdao 266071 Shandong ProvinceChina Shandong Eye Institute Qingdao 266071 Shandong ProvinceChina Jinan Second People's Hospital Jinan 250022 ShandongProvince China

AIM：To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese ***：Detailed family histories and clinical data were collected from patients during an ophthalmologic examination. Of 523 inheritable genetic vision systemrelated genes were captured and sequenced by targeted next-generation sequencing,and the results were confirmed by Sanger sequencing. The possible functional impacts of an amino acid substitution were performed with Poly Phen-2 and SIFT ***：The patients in the two families were affected with congenital cataract. Sixty-five （FAMILY-1） and sixty two （FAMILY-2） single-nucleotide polymorphisms and indels were selected by recommended filtering *** was then analyzed by applying Sanger sequencing with the family members. A heterozygous CRYBB1 mutation in exon 4 （c.347T〉C, p.L116P） was identified in sixteen patients in FAMILY-1. A heterozygous CRYBB2 mutation in exon 5 （c.355G〉A, p.G119R） was identified in three patients in FAMILY-2. Each mutation cosegregated with the affected individuals and did not exist in unaffected family members and 200 unrelated normal *** mutation was predicted to be highly conservative and to be deleterious by both PolyPhen-2 and ***：TheCRYBB1 mutation（c.347T〉C）and CRYBB2 mutation （c.355G〉A） are novel in patients with congenital cataract. We summarize the variable phenotypes among the patients, which expanded the phenotypic spectrum of congenital cataract in a different ethnic background.

关键词： CRYBB1 CRYBB2 next-generation sequencing congenital cataract

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A Chinese family with Axenfeld-Rieger syndrome:report of the clinical and genetic findings

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International Journal of Ophthalmology(English edition) 2017年第6期10卷 847-853页

作者： Da-Peng Sun Yun-Hai Dai xiao-jing pan Tao Shan Dian-Qiang Wang Peng Chen Qingdao University Qingdao 266071 Shandong Province China State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of Ophthalmology Shandong Eye Institute Shandong Academy of Medical Sciences Qingdao 266071 Shandong Province China

AIM： To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome （ARS） and characterize the molecular defect in PITX2 in the family. METHODS： Patients presented with typical ARS from a Chinese family were investigated. We performed genome- wide linkage scan and exome sequencing to identify the pathogenic mutations, Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing, Real-time polymerase chain reaction （RT- PCR） and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS： Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A〉G substitution at position -11 of 3＇ss of exon 5 （IVS5- 11A〉G） that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family, CONCLUSION： Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.

关键词： Axenfeld-Rieger syndrome exome sequencing linkage analysis PITX2 intronic mutation

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Associations of lens thickness and axial length with outcomes of laser peripheral iridotomy

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International Journal of Ophthalmology(English edition) 2021年第5期14卷 714-718页

作者： Ya-Meng Liu Die Hu Long-Fang Zhou Jie Lan Cheng-Cheng Feng xiao-Yun Wang xiao-jing pan Weifang Medical University Weifang 261021Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyShandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina Qingdao Eye Hospital of Shandong First Medical University Qingdao 266071Shandong ProvinceChina

AIM:To investigate the association of axial length(AL),lens thickness(LT),and lens vault(LV)with postoperative anterior chamber angle metrics after laser peripheral iridotomy(LPI).METHODS:Prospective observational study of 69 patients(97 eyes)were diagnosed as primary angle-closure suspect(PACS),primary angle closure(PAC)or primary angle-closure glaucoma(PACG).AL,LT,anterior central chamber depth(ACD),angle opening distance(AOD),trabecular iris angle(TIA),and angle recess area(ARA)were measured before and 1 wk after *** association between AL,LT,LV with ACD,AOD,TIA,ARA were analyzed by comparing the differences between preoperative and postoperative measurements for anterior segment biometric ***:ACD,AOD,TIA,and ARA were significantly increased after LPI(all P<0.05).Greater LT was significantly associated with greater postoperative increases in ACD,AOD,TIA,and ARA(all P<0.05).AL was not significantly associated with changes of anterior segment biometric *** LV was significantly associated with greater postoperative increases in ACD,AOD,and TIA(all P<0.05),but was not significantly associated with changes of ***:Greater baseline LT and LV measurements are associated with greater increases in anterior segment biometric parameters after laser peripheral *** are not associated with the change of anterior segment biometric parameters.

关键词： laser peripheral iridotomy primary angleclosure glaucoma lens thickness axial length anterior chamber angle metrics

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Corneal infection in Shandong peninsula of China: a10-year retrospective study on 578 cases

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International Journal of Ophthalmology(English edition) 2016年第1期9卷 53-57页

作者： xiao-jing pan Tao Jiang Hai Zhu Peng-Peng Liu Zhan-Yu Zhou Alexander J.Mao Department of Ophthalmology the Affiliated Hospital of Qingdao University Department of Ophthalmology Qingdao Municipal Hospital Department of Ophthalmology Ivey Eye Institute St Joseph's Hospital Lawson Health Research InstituteUniversity of Western Ontario

AIM：To determine the epidemiological characteristics,clinical signs,laboratory findings,and outcomes in patients with corneal infection in Shandong peninsula of China.·METHODS：The medical records of 578 inpatients（578eyes）with corneal infection were reviewed retrospectively for demographic characteristics,risk factors,seasonal variation,clinical signs,laboratory findings,and treatment *** history,ocular examination findings using slit-lamp biomicroscopy,laboratory findings resulted from microbiological cultures,and treatment.·RESULTS：Fungal keratitis constituted 58.48%of cases of infectious keratitis among the inpatients,followed by herpes simplex keratitis（20.76%）,bacterial keratitis（19.03%）and acanthamoeba keratitis（1.73%）.The most common risk factor was corneal trauma（71.80%）.The direct microscopic examination（338 cases）using potassium hydroxide（KOH）wet mounts was positive in296 cases（87.57%）.Among the 298 fungal culturepositive cases,Fusarium species were the most common isolates（70.47%）.A total of 517 cases（89.45%）received surgical intervention,including 255（44.12%）cases of penetrating keratoplasty,74（12.80%）cases of lamellar keratoplasty which has become increasingly popular,and77 cases（13.32%）of evisceration or enucleation.·CONCLUSION：At present,infectious keratitis is a primary corneal disease causing blindness in *** Fusarium species being the most commonly identified pathogens,fungal keratitis is the leading cause of severe infectious corneal ulcers in Shandong peninsula of China.

关键词： keratitis epidemiology etiology retrospectivestudy

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Assessment of iris volume in glaucoma patients with type 2 diabetes mellitus by AS-OCT

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International Journal of Ophthalmology(English edition) 2023年第5期16卷 743-747页

作者： Ying Su Qing-Shu Ge Zong-Yi Li Qian-Wen Bu Die Hu Long-Fang Zhou xiao-jing pan School of Clinical Medicine Weifang Medical UniversityWeifang 261021Shandong ProvinceChina Eye Institute of Shandong First Medical University Qingdao Eye Hospital of Shandong First Medical UniversityQingdao 266071Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyQingdao 266071Shandong ProvinceChina School of Ophthalmology Shandong First Medical UniversityQingdao 266071Shandong ProvinceChina

AIM:To examine the change of iris volume measured by CASIA2 anterior segment optical coherence tomography(ASOCT)in glaucoma patients with or without type 2 diabetes mellitus(T2DM)and explore if there is a correlation between hemoglobin A1c(HbA1c)level and iris ***:In a cross-sectional study,72 patients(115 eyes)were divided into two groups:primary open angle glaucoma(POAG)group(55 eyes)and primary angle-closure glaucoma(PACG)group(60 eyes).Patients in each group were separately classified into patients with or without *** volume and glycosylated HbA1c level were measured and ***:In the PACG group,diabetic patients'iris volume was significantly lower than those of non-diabetics(P=0.02),and there was a significant correlation between iris volume and HbA1c level in the PACG group(r=-0.26,P=0.04).However,diabetic POAG patients'iris volume was noticeably higher than those of non-diabetics(P=0.01),and there was a significant correlation between HbA1c level and iris volume(r=0.32,P=0.02).CONCLUSION:Diabetes mellitus impact iris volume size,as seen by increased iris volume in the POAG group and decreased iris volume in the PACG *** addition,iris volume is significantly correlated with HbA1c level in glaucoma *** findings imply that T2DM may compromise iris ultrastructure in glaucoma patients.

关键词： glaucoma diabetes mellitus iris volume glycosylated hemoglobin optical coherence tomography

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Ocular bacterial infections at a tertiary eye center in China: a 5-year review of pathogen distribution and antibiotic sensitivity

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International Journal of Ophthalmology(English edition) 2020年第1期13卷 54-60页

作者： Wen Gao Tian Xia Hua-Bo Chen xiao-jing pan Yu-Sen Huang Xin Wang Yan-Ling Dong Li-Xin Xie School of Medicine Shandong UniversityJinan 250012Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyShandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina Anhui No.2 Provincial People’s Hospital Hefei 230041Anhui ProvinceChina

AIM: To provide statistical evidence for the use of antibiotics in ophthalmology by assessing the distribution and antibiotic sensitivity of bacterial isolates from ocular specimens with suspected microbial ***: This study applied a retrospective analysis of 3690 bacterial isolates from ocular specimens, which were obtained from the conjunctiva, cornea, aqueous humor, vitreous body, and other ocular sites of the patients at Shandong Eye Institute in northern China from January 2013 to December 2017. The parameters assessed mainly included the distribution of isolated bacteria and the results of susceptibility tests for antibiotics. In the analysis of antibiotic sensitivities, the bacteria were divided into four groups according to gram staining, and statistical methods were used to compare their antibiotic sensitivities. RESULTS: Among the 3690 isolated bacterial strains, Staphylococcus epidermidis(2007, 54.39%) accounted for the highest proportion. As for the total isolates, their sensitivity rate to gatifloxacin was up to 90.01%, with four types of gram-stained bacteria being all highly sensitive to it, but their sensitivity rate to levofloxacin was only 51.91%. The sensitivity rate of gram-negative bacilli(G-B) to levofloxacin was 83.66%, significantly higher than the other three types of gram-stained bacteria(P<0.05). Gram-positive cocci (G+C, 97.95%) and gram-positive bacilli(G+B, 97.54%) were more sensitive to vancomycin than gram-negative cocci(G-C, 70.59%) and G-B(68.57%;P<0.05). For fusidic acid, the sensitivity rates of G+C(89.83%) and G+B(73.37%) were significantly higher than that of G-B(29.83%;P<0.05). The gram-negative bacteria's sensitivity rate to cefuroxime was as low as 59.25%, but only G-B was less sensitive to cefuroxime(57.28%), while G-C was still highly sensitive(89.29%). The sensitivity rate of gram-positive bacteria to moxifloxacin was as high as 80.28%, but only G+C was highly sensitive to moxifloxacin(81.21%), while G+B was

关键词： bacteria ocular infections pathogen antibiotic sensitivity

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Mutation analysis of FBN1 gene in two Chinese families with congenital ectopia lentis in northern China

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International Journal of Ophthalmology(English edition) 2019年第11期12卷 1674-1679页

作者： Su-Zhen Tang Ya-Ning Liu Shao-Hua Hu Hao Chen Hui Zhao Xue-Mei Feng xiao-jing pan Peng Chen Department of Human Anatomy Histology and EmbryologySchool of Basic MedicineQingdao UniversityQingdao 266071Shandong ProvinceChina The 971 Hospital of the Chinese People’s Liberation Army Navy Qingdao 266071Shandong ProvinceChina Qingdao Eye Hospital Shandong Eye InstituteShandong First Medical University&Shandong Academy of Medical SciencesQingdao 266071Shandong ProvinceChina

AIM: To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1(FBN1) gene responsible for congenital ectopia lentis(EL) in two Chinese families in northern ***: A detailed family history and clinical data from all participants were collected by clinical examination. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. Haplotyping was used to confirm the mutation sequence. Real-time PCR was used to determine the FBN1 messenger ribonucleic acid(m RNA) levels in patients with EL and in unaffected family ***: The probands and other patients in the two families were affected with congenital isolated EL. A heterozygous FBN1 mutation in exon 21(c.2420_IVS20-8 del TCTGAAACAins CGAAAG) was identified in FAMILY-1. A heterozygous FBN1 mutation in exon 14(c.1633 C>T, p.R545 C) was identified in FAMILY-2. Each mutation cosegregated with the affected individuals in the family and did not exist in unaffected family members and 200 unrelated normal ***: The insertion-deletion mutation(c.2420 IVS20-8 del TCTGAAACA ins CGAAAG) in the FBN1 gene is first identified in isolated EL. The mutation(c.1633 C>T) in the FBN1 gene was a known mutation in EL patient. The variable phenotypes among the patients expand the phenotypic spectrum of EL in a different ethnic background.

关键词： congenital ectopia lentis autosomal dominant targeted next-generation sequencing FBN1 fibrillin-1

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Corneal nerve changes by anti-glaucoma medications examined by in vivo confocal microscopy

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International Journal of Ophthalmology(English edition) 2024年第9期17卷 1645-1653页

作者： Xin-Yuan Zhu Qing-Shu Ge Zong-Yi Li Long-Fang Zhou Qian-Wen Bu Ying Su Xin-Jie Wang Qing-Jun Zhou xiao-jing pan Die Hu School of Clinical Medicine Shandong Second Medical UniversityWeifang 261053Shandong ProvinceChina Eye Institute of Shandong First Medical University Qingdao Eye Hospital of Shandong First Medical UniversityQingdao 266071Shandong ProvinceChina State Key Laboratory Cultivation Base Shandong Provincial Key Laboratory of OphthalmologyQingdao 266071Shandong ProvinceChina School of Ophthalmology Shandong First Medical UniversityQingdao 266071Shandong ProvinceChina

AIM:To evaluate the effects of antiglaucoma eye drops on corneal nerves by in vivo confocal microscopy(IVCM).METHODS:This study comprised 79 patients diagnosed with glaucoma and 16 healthy control *** the glaucoma patients,54 were treated with medication,while 25 remained *** corneal images were evaluated by IVCM,and then ACCMetrics was used to calculate the following parameters:corneal nerve fiber density(CNFD),branch density(CNBD),fiber length(CNFL),total branch density(CTBD),fiber area(CNFA),fiber width(CNFW),and fractal dimension(CNFrD).The correlation between IVCM parameters and drugs was evaluated using non-parametric measurements of Spearman’s rank correlation ***:The CNFD was reduced in glaucoma groups compared to healthy subjects(P<0.01).Patients using anti-glaucoma medications exhibited poorer confocal parameters compared to untreated *** the number of medications and usage count increased,CNFD,CNBD,CNFL,CTBD,CNFA,and CNFrD experienced a decline,while CNFW increased(all P<0.01).For the brinzolamide-therapy group,there was a significant decrease in CNFD and CNFL compared to the other monotherapy groups(P<0.001).In the absence of medication,CNFD in males was lower than that in females(P<0.05).Among patients under medication therapy,CNFD remained consistent between males and ***:Antiglaucoma eye drops affect the microstructure of corneal *** and ACCMetrics are useful tools that could be used to evaluate the corneal nerve changes.

关键词： glaucoma therapy corneal nerve fibers in vivo confocal microscopy ACCMetrics

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Highly conductive and stable iodine doped argyrodite electrolyte for all-solid-state lithium batteries

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Journal of Energy Chemistry 2025年第1期100卷 50-58页

作者： Gaozhan Liu jing Zhang jing Yang jinghui Chen Xingyue xiao Xiayin Yao Ningbo Institute of Materials Technology and Engineering Chinese Academy of Sciences Center of Materials Science and Optoelectronics Engineering University of Chinese Academy of Sciences

Lithium argyrodites with high ionic conductivity and low cost are considered as one of the most prospective solid electrolytes for all-solid-state lithium ***,the poor chemical stability and compatibility with lithium metal limit their ***,Li5.4PS4.4Cl1.4I0.2solid electrolyte with high ionic conductivity of 11.49 m S cm-1and improved chemical stability is synthesized by iodine *** ultra-thin Li5.4PS4.4Cl1.4I0.2membrane with thickness of 10μm can be obtained by wet coating process,exhibiting a high ionic conductivity of 2.09 mS cm-1and low areal resistance of 1.17Ω***,iodine doping could in-situ form LiI at the lithium/electrolyte interface and improve the critical current density of Li5.4PS4.4Cl1.6from 0.8 to 1.35 mA *** resultant LiCoO2/Li5.4PS4.4Cl1.4I0.2/Li battery shows excellent cycling stability at 1 C,with a reversible specific capacity of 110.1 mA h g-1and a retention of 80.5% after 1000 *** addition,the assembled LiCoO2/Li5.4PS4.4Cl1.4I0.2membrane/Li pouch cell delivers an initial discharge capacity of 110.4 mA h g-1and 80.5% capacity retention after 100 cycles.

关键词： Argyrodite electrolytes Iodine doping Ionic conductivity Stability All-solid-state lithium battery

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Co-production of hydrogen, oxygen, and electricity via an integrated solar-driven system with decoupled water electrolyzer and Na-Zn ion battery

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Journal of Energy Chemistry 2025年第1期100卷 621-627页

作者： Fei Lv Longjie Liu Jiazhe Wu Pengfei Wang Lixia pan Dengwei jing Yubin Chen International Research Center for Renewable Energy State Key Laboratory of Multiphase Flow in Power Engineering Xi'an Jiaotong University

Combining water electrolysis and rechargeable battery technologies into a single system holds great promise for the co-production of hydrogen （H2） and ***,the design and development of such systems is still in its ***,an integrated hydrogen-oxygen （O2）-electricity co-production system featuring a bipolar membrane-assisted decoupled electrolyzer and a Na-Zn ion battery was established with sodium nickelhexacyanoferrate （NaNiHCF） and Zn2+/Zn as dual redox *** decoupled electrolyzer enables to produce H2and O2in different time and space with almost 100%Faradaic efficiency at 100 mA ***,the charged NaNiHCF and Zn electrodes after the electrolysis processes formed a Na-Zn ion battery,which can generate electricity with an average cell voltage of 1.75 V at 10 m A *** connecting Si photovoltaics with the modular electrochemical device,a well-matched solar driven system was built to convert the intermittent solar energy into hydrogen and electric energy with a solar to hydrogen-electricity efficiency of 16.7%,demonstrating the flexible storage and conversion of renewables.

关键词： Hydrogen Electricity Decoupled water electrolyzer Na-Zn ion battery Solar energy

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