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Novel MIP gene mutation causes autosomal-dominant congenital cataract

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International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： Jing-lan Ni Hua-Ming Wen xiao-Sheng Huang Qian-Wen Li Jia-Min Cai Bao-Jian fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

Multidisciplinary comprehensive treatment of massive hepatocellular carcinoma with hemorrhage:A case report and review of literature

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World Journal of Gastrointestinal Oncology 2024年第5期16卷 2225-2232页

作者： Xian-Shuai Kou fan-fan Li Yun Meng Jian-Ming Zhao Sheng-Fen Liu lan Zhang The First Clinical Medical College Gansu University of Chinese MedicineLanzhou 730000Gansu ProvinceChina Department of Thoracic Surgery The First Hospital of Lanzhou UniversityLanzhou 730000Gansu ProvinceChina Department of Surgery Gansu Provincial HospitalLanzhou 730000Gansu ProvinceChina Department of Orthopedics Gansu Provincial HospitalLanzhou 730000Gansu ProvinceChina

BACKGROUND Hepatocellular carcinoma(HCC),a major contributor to cancer-related deaths,is particularly prevalent in Asia,largely due to hepatitis B virus infection.Its prognosis is generally poor.This case report contributes to the medical literature by detailing a unique approach in treating a large HCC through multidisciplinary collaboration,particularly in patients with massive HCC complicated by ruptured bleeding,a scenario not extensively documented previously.CASE SUMMARY The patient presented with large HCC complicated by intratumoral bleeding.Treatment involved a multidisciplinary approach,providing individualized care.The strategy included drug-eluting bead transarterial chemoembolization,sorafenib-targeted therapy,laparoscopic partial hepatectomy,and standardized sintilimab monoclonal antibody therapy.Six months after treatment,the patient achieved complete radiological remission,with significant symptom relief.Imaging studies showed no lesions or recurrence,and clinical assessments confirmed complete remission.This report is notable as possibly the first docu-mented case of successfully treating such complex HCC conditions through integrated multidisciplinary efforts,offering new insights and a reference for future similar cases.CONCLUSION This study demonstrated effective multidisciplinary treatment for massive HCC with intratumoral bleeding,providing insights for future similar cases.

关键词： Hepatocellular carcinoma Transarterial chemoembolization Sintilimab Sorafenib Translational therapy Multidisciplinary team Case report

Frequency and associated factors of accommodation and non-strabismic binocular vision dysfunction among medical university students

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 374-379页

作者： Jie Cai Wen-Wen fan Yun-Hui Zhong Cai-lan Wen xiao-Dan Wei Wan-Chen Wei Wan-Yan Xiang Jin-Mao Chen Department of Ophthalmology First Affiliated Hospital of Guangxi Medical UniversityNanning 530021Guangxi Zhuang Autonomous RegionChina Digital and Intelligent Technology Transformation and Application Research Institute of Visual Function Tianjin 300000China Guangxi Medical University Nanning 530021Guangxi Zhuang Autonomous RegionChina

AIM:To investigate the frequency and associated factors of accommodation and non-strabismic binocular vision dysfunction among medical university students.METHODS:Totally 158 student volunteers underwent routine vision examination in the optometry clinic of Guangxi Medical University.Their data were used to identify the different types of accommodation and nonstrabismic binocular vision dysfunction and to determine their frequency.Correlation analysis and logistic regression were used to examine the factors associated with these abnormalities.RESULTS:The results showed that 36.71%of the subjects had accommodation and non-strabismic binocular vision issues,with 8.86%being attributed to accommodation dysfunction and 27.85%to binocular abnormalities.Convergence insufficiency(CI)was the most common abnormality,accounting for 13.29%.Those with these abnormalities experienced higher levels of eyestrain(χ2=69.518,P<0.001).The linear correlations were observed between the difference of binocular spherical equivalent(SE)and the index of horizontal esotropia at a distance(r=0.231,P=0.004)and the asthenopia survey scale(ASS)score(r=0.346,P<0.001).Furthermore,the right eye's SE was inversely correlated with the convergence of positive and negative fusion images at close range(r=-0.321,P<0.001),the convergence of negative fusion images at close range(r=-0.294,P<0.001),the vergence facility(VF;r=-0.234,P=0.003),and the set of negative fusion images at far range(r=-0.237,P=0.003).Logistic regression analysis indicated that gender,age,and the difference in right and binocular SE did not influence the emergence of these abnormalities.CONCLUSION:Binocular vision abnormalities are more prevalent than accommodation dysfunction,with CI being the most frequent type.Greater binocular refractive disparity leads to more severe eyestrain symptoms.

关键词： optometry clinic non-strabismic binocular vision dysfunction college students convergence insufficiency

Fast spreading of surface ozone in both temporal and spatial scale in Pearl River Delta

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Journal of Environmental Sciences 2024年第3期137卷 540-552页

作者： Tianhui Cao Haichao Wang Lei Li xiao Lu Yiming Liu Shaojia fan School of Atmospheric Sciences Sun Yat-sen University and Southern Marine Science and Engineering Guangdong Laboratory(Zhuhai)Zhuhai 519082China Guangdong Provincial Observation and Research Station for Climate Environment and Air Quality Change in the Pearl River Estuary Key Laboratory of Tropical Atmosphere-Ocean SystemMinistry of EducationZhuhai 519082China

Surface ozone(O_(3))is a major air pollutant and draw increasing attention in the Pearl River Delta(PRD),China.Here,we characterize the spatial-temporal variability of ozone based on a dataset obtained from 57 national monitoring sites during 2013-2019.Our results show that:(1)the seasonal difference of ozone distribution in the inland and coastal areas was significant,which was largely affected by the wind pattern reversals related to the East Asian monsoon,and local ozone production and destruction;(2)the daily maximum 8hr average(MDA8 O_(3))showed an overall upward trend by 1.11 ppbv/year.While the trends in the nine cities varied differently by ranging from-0.12 to 2.51 ppbv/year.The hot spots of ozone were spreading to southwestern areas from the central areas since 2016.And ozone is becoming a year-round air pollution problem with the pollution season extending to winter and spring in PRD region.(3)at the central and southwestern PRD cities,the percentage of exceedance days from the continuous type(defined as≥3 days)was increasing.Furthermore,the ozone concentration of continuous type was much higher than that of scattered exceedance type(<3 days).In addition,although the occurrence of continuous type starts to decline since2017,the total number of exceedance days during the continuous type is increasing.These results indicate that it is more difficult to eliminate the continuous exceedance than the scatter pollution days and highlight the great challenge in mitigation of O_(3)pollution in these cities.

关键词： Surface ozone pollution Ozone trend Spatial and temporal variability Pearl River Delta Pollution mitigation

The CBL-interacting protein kinase OsCIPK1 phosphorylated by SAPK10 positively regulates responses to ABA and osmotic stress in rice

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The Crop Journal 2024年第2期12卷 364-374页

作者： Caihua Qin Xing fan Qianqian fang lan Ni Mingyi Jiang College of Life Sciences State Key Laboratory of Crop Genetics&Germplasm Enhancement and UtilizationKey Laboratory of Crop Physiology Ecology and Production ManagementMinistry of AgricultureNanjing Agricultural UniversityNanjing 210095JiangsuChina

SubclassⅢsucrose nonfermenting1-related protein kinase 2s(SnRK2s)function in ABA and abiotic stress responses by unknown mechanisms.We found that osmotic stress/ABA-activated protein kinase 10(SAPK10),a member of rice SnRK2s,physically interacted with CBL-interacting protein kinase 1(OsCIPK1).OsCIPK1 expression was up-regulated by ABA and PEG treatment,and overexpression increased the ABA sensitivity of seed germination and root growth and plant osmotic stress tolerance.Osmotic stress or ABA-induced activation of OsCIPK1 is dependent on SAPK10.SAPK10 phosphorylates Thr-24 of OsCIPK1 in vitro,and this phosphorylation increases the activity of OsCIPK1 and positively regulates the function of OsCIPK1 in ABA responses and plant osmotic stress tolerance.This study suggests that OsCIPK1 is a direct phosphorylated substrate of SAPK10,and SAPK10-mediated phosphorylation of OsCIPK1 functions in ABA signaling and increases rice osmotic stress tolerance.

关键词： Rice ABA Osmotic stress OsCIPK1 SAPK10

Cell metabolism pathways involved in the pathophysiological changes of diabetic peripheral neuropathy

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Neural Regeneration Research 2024年第3期19卷 598-605页

作者： Yaowei Lv Xiangyun Yao xiao Li Yuanming Ouyang Cunyi fan Yun Qian Department of Orthopedics Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Shanghai Engineering Research Center for Orthopaedic Material Innovation and Tissue Regeneration ShanghaiChina Youth Science and Technology Innovation Studio of Shanghai Jiao Tong University School of Medicine ShanghaiChina College of Fisheries and Life Science Shanghai Ocean UniversityShanghaiChina

Diabetic peripheral neuropathy is a common complication of diabetes mellitus.Elucidating the pathophysiological metabolic mechanism impels the generation of ideal therapies.However,existing limited treatments for diabetic peripheral neuropathy expose the urgent need for cell metabolism research.Given the lack of comprehensive understanding of energy metabolism changes and related signaling pathways in diabetic peripheral neuropathy,it is essential to explore energy changes and metabolic changes in diabetic peripheral neuropathy to develop suitable treatment methods.This review summarizes the pathophysiological mechanism of diabetic peripheral neuropathy from the perspective of cellular metabolism and the specific interventions for different metabolic pathways to develop effective treatment methods.Various metabolic mechanisms(e.g.,polyol,hexosamine,protein kinase C pathway)are associated with diabetic peripheral neuropathy,and researchers are looking for more effective treatments through these pathways.

关键词： cell metabolism diabetic peripheral neuropathy peripheral nerve injury protein kinase C pathway reactive oxygen species.

Predictive value of NLR, Fib4, and APRI in the occurrence of liver failure after hepatectomy in patients with hepatocellular carcinoma

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World Journal of Gastrointestinal Surgery 2024年第1期16卷 155-165页

作者： Tian-Zuo Kuang Meng xiao Yong-fan Liu Department of Hepatobiliary Surgery Ji’an Central People’s HospitalJi’an 343000Jiangxi ProvinceChina

BACKGROUND Neutrophil-lymphocyte ratio(NLR),fibrosis index based on four factors(Fib4),aspartate aminotransferase-to-platelet ratio index(APRI)can be used for prognostic evaluation of hepatocellular carcinoma.However,no study has established an individualized prediction model for the prognosis of hepatocellular carcinoma based on these factors.AIM To screen the factors that affect the prognosis of hepatocellular carcinoma and establish a nomogram model that predicts postoperative liver failure after hepatic resection in patients with hepatocellular carcinoma.METHODS In total,220 patients with hepatocellular carcinoma treated in our hospital from January 2022 to January 2023 were selected.They were divided into 154 participants in the modeling cohort,and 66 in the validation cohort.Comparative analysis of the changes in NLR,Fib4,and APRI levels in 154 patients with hepatocellular carcinoma before liver resection and at 3 mo,6 mo,and 12 mo postoperatively was conducted.Binary logistic regression to analyze the influencing factors on the occurrence of liver failure in hepatocellular carcinoma patients,roadmap prediction modeling,and validation,patient work characteristic curves(ROCs)to evaluate the predictive efficacy of the model,calibration curves to assess the consistency,and decision curve analysis(DCA)to evaluate the model’s validity were also conducted.RESULTS Binary logistic regression showed that Child-Pugh grading,Surgical site,NLR,Fib4,and APRI were all risk factors for liver failure after hepatic resection in patients with hepatocellular carcinoma.The modeling cohort built a column-line graph model,and the area under the ROC curve was 0.986[95%confidence in terval(CI):0.963-1.000].The patients in the validation cohort utilized the column-line graph to predict the probability of survival in the validation cohort and plotted the ROC curve with an area under the curve of the model of 0.692(95%CI:0.548-0.837).The deviation of the actual outcome curves from the calibration curves of the column-line plots gener

关键词： Hepatocellular carcinoma Hepatic resection Liver failure Influencing factors Columnar graphs

Current landscape of preoperative neoadjuvant therapies for initial resectable colorectal cancer liver metastasis

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World Journal of Gastroenterology 2024年第7期30卷 663-672页

作者： xiao-Fei Cheng Feng Zhao Dong Chen fan-Long Liu Department of Colorectal Surgery The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina Department of Radiation Oncology The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310003Zhejiang ProvinceChina

Colorectal cancer liver metastasis(CRLM)presents a clinical challenge,and optimizing treatment strategies is crucial for improving patient outcomes.Surgical resection,a key element in achieving prolonged survival,is often linked to a heightened risk of recurrence.Acknowledging the potential benefits of preoperative neoadjuvant chemotherapy in managing resectable liver metastases,this approach has gained attention for its role in tumor downsizing,assessing biological behavior,and reducing the risk of postoperative recurrence.However,the use of neoadjuvant chemotherapy in initially resectable CRLM sparks ongoing debates.The balance between tumor reduction and the risk of hepatic injury,coupled with concerns about delaying surgery,necessitates a nuanced approach.This article explores recent research insights and draws upon the practical experiences at our center to address critical issues regarding considerations for initially resectable cases.Examining the criteria for patient selection and the judicious choice of neoadjuvant regimens are pivotal areas of discussion.Striking the right balance between maximizing treatment efficacy and minimizing adverse effects is imperative.The dynamic landscape of precision medicine is also reflected in the evolving role of gene testing,such as RAS/BRAF and PIK3CA,in tailoring neoadjuvant regimens.Furthermore,the review emphasizes the need for a multidisciplinary approach to navigate the comp-lexities of CRLM.Integrating technical expertise and biological insights is crucial in refining neoadjuvant strategies.The management of progression following neoadjuvant chemotherapy requires a tailored approach,acknowledging the diverse biological behaviors that may emerge.In conclusion,this review aims to provide a comprehensive perspective on the considerations,challenges,and advancements in the use of neoadjuvant chemotherapy for initially resectable CRLM.By combining evidencebased insights with practical experiences,we aspire to contribute to the ongoing discourse on refining treatment

关键词： Neoadjuvant therapy Colorectal cancer liver metastasis Multidisciplinary teams Chemotherapeutic regimens Resectability criteria

Methods,Mechanisms,and Application Prospects for Enhancing Extracellular Vesicle Uptake

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Current Medical Science 2024年第2期44卷 247-260页

作者： Ying-peng XU Tao JIANG xiao-fan YANG Zhen-bing CHEN Department of Hand Surgery Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430022China

Extracellular vesicles(EVs)are considered to be a new generation of bioinspired nanoscale drug delivery systems due to their low immunogenicity,natural functionality,and excellent biocompatibility.However,limitations such as low uptake efficiency,insufficient production,and inhomogeneous performance undermine their potential.To address these issues,numerous researchers have put forward various methods and applications for enhancing EV uptake in recent decades.In this review,we introduce various methods for the cellular uptake of EVs and summarize recent advances on the methods and mechanisms for enhancing EV uptake.In addition,we provide further understanding regarding enhancing EV uptake and put forward prospects and challenges for the development of EV-based therapy in the future.

关键词： extracellular vesicles exosomes extracellular vesicle uptake extracellular vesiclebased therapy