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The gut-eye axis:from brain neurodegenerative diseases to age-related macular degeneration
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作者 Qianzi Jin Suyu Wang +2 位作者 Yujia Yao Qin Jiang Keran Li 《Neural Regeneration Research》 SCIE CAS 2025年第10期2741-2757,共17页
Age-related macular degeneration is a serious neurodegenerative disease of the retina that significantly impacts vision.Unfortunately,the specific pathogenesis remains unclear,and effective early treatment options are... Age-related macular degeneration is a serious neurodegenerative disease of the retina that significantly impacts vision.Unfortunately,the specific pathogenesis remains unclear,and effective early treatment options are consequently lacking.The microbiome is defined as a large ecosystem of microorganisms living within and coexisting with a host.The intestinal microbiome undergoes dynamic changes owing to age,diet,genetics,and other factors.Such dysregulation of the intestinal flora can disrupt the microecological balance,resulting in immunological and metabolic dysfunction in the host,and affecting the development of many diseases.In recent decades,significant evidence has indicated that the intestinal flora also influences systems outside of the digestive tract,including the brain.Indeed,several studies have demonstrated the critical role of the gut-brain axis in the development of brain neurodegenerative diseases,including Alzheimer’s disease and Parkinson’s disease.Similarly,the role of the“gut-eye axis”has been confirmed to play a role in the pathogenesis of many ocular disorders.Moreover,age-related macular degeneration and many brain neurodegenerative diseases have been shown to share several risk factors and to exhibit comparable etiologies.As such,the intestinal flora may play an important role in age-related macular degeneration.Given the above context,the present review aims to clarify the gut-brain and gut-eye connections,assess the effect of intestinal flora and metabolites on age-related macular degeneration,and identify potential diagnostic markers and therapeutic strategies.Currently,direct research on the role of intestinal flora in age-related macular degeneration is still relatively limited,while studies focusing solely on intestinal flora are insufficient to fully elucidate its functional role in age-related macular degeneration.Organ-on-a-chip technology has shown promise in clarifying the gut-eye interactions,while integrating analysis of the intestinal flora with research on metabolites through metabolomics and other techniques is crucial for understanding their potential mechanisms. 展开更多
关键词 age-related macular degeneration biological agents blinding eye disease dietary nutrition fecal microbial transplantation gut-eye axis intestinal flora METABOLITE MICROECOLOGY neurodegenerative disease
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Exploring the role of N-acetyltransferases in diseases:a focus on N-acetyltransferase 9 in neurodegeneration
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作者 Prajakta Deshpande Anuradha Venkatakrishnan Chimata Amit Singh 《Neural Regeneration Research》 SCIE CAS 2025年第10期2862-2871,共10页
Acetyltransferases,required to transfer an acetyl group on protein are highly conserved proteins that play a crucial role in development and disease.Protein acetylation is a common post-translational modification pivo... Acetyltransferases,required to transfer an acetyl group on protein are highly conserved proteins that play a crucial role in development and disease.Protein acetylation is a common post-translational modification pivotal to basic cellular processes.Close to 80%-90%of proteins are acetylated during translation,which is an irreversible process that affects protein structure,function,life,and localization.In this review,we have discussed the various N-acetyltransferases present in humans,their function,and how they might play a role in diseases.Furthermore,we have focused on N-acetyltransferase 9 and its role in microtubule stability.We have shed light on how N-acetyltransferase 9 and acetylation of proteins can potentially play a role in neurodegenerative diseases.We have specifically discussed the N-acetyltransferase 9-acetylation independent function and regulation of c-Jun N-terminal kinase signaling and microtubule stability during development and neurodegeneration. 展开更多
关键词 acetyl-coenzyme A Alzheimer’s disease animal models cell death DROSOPHILA eye human disease c-Jun N-terminal kinase signaling N-Acetyltransferases N-acetyltransferase 9 NEURODEGENERATION
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Interaction between diet and genetics in patients with inflammatory bowel disease
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作者 Daniéla Oliveira Magro Ligia Yukie Sassaki Júlio Maria Fonseca Chebli 《World Journal of Gastroenterology》 SCIE CAS 2024年第12期1644-1650,共7页
In this editorial,we comment on the article by Marangoni et al,published in the recent issue of the World Journal of Gastroenterology 2023;29:5618-5629,about“Diet as an epigenetic factor in inflammatory bowel disease... In this editorial,we comment on the article by Marangoni et al,published in the recent issue of the World Journal of Gastroenterology 2023;29:5618-5629,about“Diet as an epigenetic factor in inflammatory bowel disease”.The authors emphasized the role of diet,especially the interaction with genetics,in promoting the inflam-matory process in inflammatory bowel disease(IBD)patients,focusing on DNA methylation,histone modifications,and the influence of microRNAs.In this editorial,we explore the interaction between genetics,gut microbiota,and diet,in an only way.Furthermore,we provided dietary recommendations for patients with IBD.The Western diet,characterized by a low fiber content and deficiency the micronutrients,impacts short-chain fatty acids production and may be related to the pathogenesis of IBD.On the other hand,the consumption of the Mediter-ranean diet and dietary fibers are associated with reduced risk of IBD flares,particularly in Crohn’s disease(CD)patients.According to the dietary guidance from the International Organization for the Study of Inflammatory Bowel Diseases(IOIBD),the regular consumption of fruits and vegetables while reducing the consumption of saturated,trans,dairy fat,additives,processed foods rich in maltodextrins,and artificial sweeteners containing sucralose or saccharine is recommended to CD patients.For patients with ulcerative colitis,the IOIBD recommends the increased intake of natural sources of omega-3 fatty acids and follows the same restrictive recommendations aimed at CD patients,with the possible inclusion of red meats.In conclusion,IBD is a complex and hetero-geneous disease,and future studies are needed to elucidate the influence of epigenetics on diet and microbiota in IBD patients. 展开更多
关键词 DIET genetics MICRORNAS Gastrointestinal microbiome Inflammatory bowel diseases Crohn’s disease
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Pattern of Eye Diseases among Tea Workers
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作者 Rifat Binth Rezayee Md. Showkat Kabir +4 位作者 Mohammed Moinul Hoque Nirupam Chowdhury Mohammad Shish Rahman Nawreen Binte Anwar Shah-Noor Hassan 《Open Journal of Ophthalmology》 2024年第2期117-127,共11页
Background: Bangladesh’s tea industry is essential to the country’s economic expansion. Since tea workers in Bangladesh are marginalized within our community, they have limited access to comprehensive eye care servi... Background: Bangladesh’s tea industry is essential to the country’s economic expansion. Since tea workers in Bangladesh are marginalized within our community, they have limited access to comprehensive eye care services. Productivity and well-being are cornerstones of comprehensive health care strategy. Ocular disorders are influenced by life expectancy, sociodemographic status, and the epidemiological transition. In this context, the state of ocular health and the many eye illnesses remain to be significantly addressed. Purpose: To evaluate the pattern of eye diseases among tea workers in a tea estate of Bangladesh. Methods: This cross-sectional observational study was carried out in Halda Valley Tea Estate, Nazirhat, Fatickchari, Chattogram, Bangladesh, under the supervision of the Department of Community Ophthalmology, BSMMU, following ethical clearance and approval by the IRB board of BSMMU. With informed written consent and approval from the authority of the tea estate, a total of 110 tea workers were recruited. Socio-demographic characteristics, ocular findings, and patterns of eye diseases were determined and recorded. Results: The mean age of the study participants was 39.60 ± 11.63 years. The maximum (58.1%) study participants were 31 - 50 years old, female (64.5%), illiterate (82.7%), and tribal (71.8%) indigenes. Eye diseases were found in 94.5% of workers. Presbyopia (28.2%), cataracts (27.3%), and refractive error (26.4%) were the most common. Tea workers with eye diseases were significantly older than those who did not have any eye diseases (40.20 ± 11.57 vs. 29.17 ± 7.31 years, p Conclusion: A significant number of tea workers had eye diseases, of which presbyopia, cataracts, and refractive error were the most common. 展开更多
关键词 Tea Workers eye diseases PRESBYOPIA CATARACT Refractive Errors
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Microbiome as an endocrine organ and its relationship with eye diseases:Effective factors and new targeted approaches
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作者 Leila Haghshenas Sara Banihashemi +3 位作者 Yalda Malekzadegan Roberto Catanzaro Amir Moghadam Ahmadi Francesco Marotta 《World Journal of Gastrointestinal Pathophysiology》 2024年第5期1-18,共18页
Microbiome is an endocrine organ that refers to both the complicated biological system of microbial species that colonize our bodies and their genomes and surroundings.Recent studies confirm the connection between the... Microbiome is an endocrine organ that refers to both the complicated biological system of microbial species that colonize our bodies and their genomes and surroundings.Recent studies confirm the connection between the microbiome and eye diseases,which are involved in the pathogenesis of eye diseases,including age-related macular disorders,diabetic retinopathy,glaucoma,retinitis pigmentosa,dry eye,and uveitis.The aim of this review is to investigate the microbiome in relation to eye health.First,a brief introduction of the characteristics of the gut microorganisms terms of composition and work,the role of dysbiosis,the gut microbiome and the eye microbiome in the progression of eye illnesses are highlighted,then the relationship among the microbiome and the function of the immune system and eye diseases,the role of inflammation and aging and the immune system,It has been reviewed and finally,the control and treatment goals of microbiome and eye diseases,the role of food factors and supplements,biotherapy and antibiotics in relation to microbiome and eye health have been reviewed. 展开更多
关键词 DYSBIOSIS Gut microbiome eye diseases Inflammation Diabetic retinopatyhy Aging Nutrient supplementation
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Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
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作者 Jin-Ying You Ling-Yun Xiong +3 位作者 Min-Fang Wu Jun-Song Fan Qi-Hua Fu Ming-Hua Qiu 《World Journal of Clinical Pediatrics》 2024年第4期5-14,共10页
BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation wit... BACKGROUND Genetic factors play an important role in neonatal hyperbilirubinemia(NH)caused by genetic diseases.AIM To explore the characteristics of genetic mutations associated with NH and analyze the correlation with genetic diseases.METHODS This was a retrospective cohort study.One hundred and five newborn patients diagnosed with NH caused by genetic diseases were enrolled in this study between September 2020 and June 2023 at the Second Affiliated Hospital of Xiamen Medical College.A 24-gene panel was used for gene sequencing to analyze gene mutations in patients.The data were analyzed via Statistical Package for the Social Sciences 20.0 software.RESULTS Seventeen frequently mutated genes were found in the 105 patients.Uridine 5'-diphospho-glucuronosyltransferase 1A1(UGT1A1)variants were identified among the 68 cases of neonatal Gilbert syndrome.In patients with sodium taurocholate cotransporting polypeptide deficiency,the primary mutation identified was Na+/taurocholate cotransporting polypeptide Ntcp(SLC10A1).Adenosine triphosphatase 7B(ATP7B)mutations primarily occur in patients with hepatolenticular degeneration(Wilson's disease).In addition,we found that UGT1A1 and glucose-6-phosphate dehydrogenase mutations were more common in the high-risk group than in the low-risk group,whereas mutations in SLC10A1,ATP7B,and heterozygous 851del4 mutation were more common in the low-risk group.CONCLUSION Genetic mutations are associated with NH and significantly increase the risk of disease in affected newborns. 展开更多
关键词 HYPERBILIRUBINEMIA Gene mutation NEONATES genetic polymorphisms Inherited diseases
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Mendelian randomization analysis:the causal relationship between statins and eye diseases
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作者 Lian-Tai Song Jia-Meng Wei +5 位作者 Hao-Ting Jia Feng-Yi Zhang Qing-Fang Deng Yi-Xiao Wang Huai-Zhi Qin Qian Xu 《Medical Data Mining》 2024年第4期34-40,共7页
Background:The specific role of statins in the field of ophthalmology is not clear.Statins have the advantages of pleiotropic,relatively safety and low cost,and are a promising choice for the prevention and management... Background:The specific role of statins in the field of ophthalmology is not clear.Statins have the advantages of pleiotropic,relatively safety and low cost,and are a promising choice for the prevention and management of eye diseases.Nevertheless,there is a divergence of findings regarding the correlation between statin treatment and ocular conditions.Hence,our intention is to investigate the impact of statins on eye conditions through the utilization of Mendelian randomization(MR).Methods:The UK Biobank provided data on five statins,while the FinnGen database provided data on six eye diseases,including age-related macular degeneration,glaucoma,diabetic retinopathy,senile cataract,drug-induced cataract,and other cataracts.Causality exploration involved the utilization of various methods including inverse variance weighted(IVW),weighted median,weighted multivariate(weighted mode),and MR-Egger regression.To assess the reliability of the findings,funnel analysis,MR-Egger regression,leave-one-out method,and Cochran’s Q test were employed.Additionally,reverse MR analysis was performed to evaluate the potential for reverse causality between statin use and eye diseases.Results:Based on IVW analysis,there were three pairs of positive results with significant(P<0.05)causal relationship,including atorvastatin and drug-induced cataract(odds ratio(OR)=1.65E-05,95%confidence interval(CI):2.24E-09–0.12;P_(IVW)=0.02),rosuvastatin and drug-induced cataract(OR=2.77E-18,95%CI:7.53E-35–0.1;P_(IVW)=0.04)and fluvastatin with senile cataract(OR=0.5,95%CI:0.25–0.99;P_(IVW)=0.05).No significant causal relationship was observed between other types of statins and eye diseases.Sensitivity analysis found that the results were robust.Reverse MR analysis indicated no evidence of reverse causality between statin use and the examined eye diseases.Conclusion:Our study finally verified the strong causal relationship between three drugs and two diseases(atorvastatin and rosuvastatin and drug cataract,fluvastatin and senile cataract).This study confirms that statins may reduce the risk of certain eye diseases and provides new insights into the prevention and treatment of eye diseases.Furthermore,the lack of reverse causality reinforces the reliability of these associations. 展开更多
关键词 Mendel randomization STATINS eye diseases
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Genome-edited rabbits:Unleashing the potential of a promising experimental animal model across diverse diseases 被引量:1
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作者 Yang Han Jiale Zhou +3 位作者 Renquan Zhang Yuru Liang Liangxue Lai Zhanjun Li 《Zoological Research》 SCIE CSCD 2024年第2期253-262,共10页
Animal models are extensively used in all aspects of biomedical research,with substantial contributions to our understanding of diseases,the development of pharmaceuticals,and the exploration of gene functions.The fie... Animal models are extensively used in all aspects of biomedical research,with substantial contributions to our understanding of diseases,the development of pharmaceuticals,and the exploration of gene functions.The field of genome modification in rabbits has progressed slowly.However,recent advancements,particularly in CRISPR/Cas9-related technologies,have catalyzed the successful development of various genome-edited rabbit models to mimic diverse diseases,including cardiovascular disorders,immunodeficiencies,agingrelated ailments,neurological diseases,and ophthalmic pathologies.These models hold great promise in advancing biomedical research due to their closer physiological and biochemical resemblance to humans compared to mice.This review aims to summarize the novel gene-editing approaches currently available for rabbits and present the applications and prospects of such models in biomedicine,underscoring their impact and future potential in translational medicine. 展开更多
关键词 Genome editing Animal model RABBIT CRISPR/Cas9 genetic diseases
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Genetics of coronary artery disease and myocardial infarction 被引量:16
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作者 Xuming Dai Szymon Wiernek +1 位作者 James P Evans Marschall S Runge 《World Journal of Cardiology》 CAS 2016年第1期1-23,共23页
Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial in... Atherosclerotic coronary artery disease(CAD) comprises a broad spectrum of clinical entities that include asymptomatic subclinical atherosclerosis and its clinical complications, such as angina pectoris, myocardial infarction(MI) and sudden cardiac death. CAD continues to be the leading cause of death in industrialized society. The long-recognized familial clustering of CAD suggests that genetics plays a central role in its development, with the heritability of CAD and MI estimated at approximately 50% to 60%. Understanding the genetic architecture of CAD and MI has proven to be difficult and costly due to the heterogeneity of clinical CAD and the underlying multi-decade complex pathophysiological processes that involve both genetic and environmental interactions. This review describes the clinical heterogeneity of CAD and MI to clarify the disease spectrum in genetic studies, provides a brief overview of the historical understanding and estimation of the heritability of CAD and MI, recounts major gene discoveries of potential causal mutations in familial CAD and MI, summarizes CAD and MIassociated genetic variants identified using candidate gene approaches and genome-wide association studies(GWAS), and summarizes the current status of the construction and validations of genetic risk scores for lifetime risk prediction and guidance for preventive strategies. Potential protective genetic factors against the development of CAD and MI are also discussed. Finally, GWAS have identified multiple genetic factors associated with an increased risk of in-stent restenosis following stent placement for obstructive CAD. This review will also address genetic factors associated with in-stent restenosis, which may ultimately guide clinical decision-making regarding revascularization strategies for patients with CAD and MI. 展开更多
关键词 Coronary artery disease Myocardial INFARCTION In-stent RESTENOSIS genetics HERITABILITY GENOME-WIDE association study Atherosclerosis
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Prevalence and risk factors for eye diseases, blindness, and low vision in Lhasa, Tibet 被引量:12
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作者 Gui-Qin Wang Zong-Xi Bai +3 位作者 Jing Shi Sang Luo Hong-Fa Chang Xiao-Yong Sai 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2013年第2期237-241,共5页
AIM: To determine the prevalence and risk factors for eye diseases, blindness, and low vision in Tibet, and to assist the development of eye disease prevention and treatment schemes.METHODS: We carried out a survey of... AIM: To determine the prevalence and risk factors for eye diseases, blindness, and low vision in Tibet, and to assist the development of eye disease prevention and treatment schemes.METHODS: We carried out a survey of eye diseases among a population living at high altitude. A total of 1 115 Tibetan permanent residents aged 40 years or older from the towns and villages of Qushui County, Lhasa Prefecture, Tibet Autonomous Region, participated in this study. All participants completed a detailed questio-nnaire, and underwent presenting and pinhole visual acuity tests,and a comprehensive ophthalmic examination.RESULTS: There were 187 blind eyes (8.43%), 231 eyes with low vision (10.41% ). The leading cause of visual impairment was cataract of 55.0% (101/187) blindness and of 50.2% (116/231) low vision, followed by fundus lesions of 22.9% blindness and 23.8% low vision, while only a low prevalence of glaucoma of 9.6% blindness and 1.7% low vision was observed. The analysis of 2 219 eyes showed that the most common external eye disease was pterygium (27.2%) in Tibet.CONCLUSION: The high prevalence of blindness and low vision in the Tibetan population at high altitude is a serious public health issue. There is a need to establish and maintain an appropriate effective eye care program in Tibet. 展开更多
关键词 TIBET eye diseases BLINDNESS low vision risk factors
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Role of genetics in the diagnosis and prognosis of Crohn's disease 被引量:8
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作者 Epameinondas V Tsianos Konstantinos H Katantions Vasileios E Tsianos 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第48期5246-5259,共14页
Considering the epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multifactorial etiology in which hereditability and environment inte... Considering the epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multifactorial etiology in which hereditability and environment interact to produce the disease. It is probable that patients have a genetic predisposition for the development of the disease coupled with disturbances in immunoregulation. Several genes have so far been related to the diagnosis of Crohn's disease. These genes are related to innate pattern recognition receptors, to epithelial barrier homeostasis and maintenance of epithelial barrier integrity, to autophagy and to lymphocyte differentiation. So far, the strongest and most replicated associations with Crohn's disease have been demonstrated with NOD2 , IL23R and ATG16L1 genes. Many genes have so far been implicated in the prognosis of Crohn's disease and many attempts have been made for classification of genetic profiles in Crohn's disease.CARD15 seems to be not only a susceptibility gene, but also a disease-modifier gene for Crohn's disease. Enriching our understanding of Crohn's disease genetics is of value, but when combining genetic data with functional data the outcome could be of major importance to clinicians. 展开更多
关键词 Crohn's disease genetics POLYMORPHISM Diagnosis PROGNOSIS Genome-wide scan genetic consortium
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Genetics of inflammatory bowel disease: The role of the HLA complex 被引量:10
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作者 Tariq Ahmad Sara E Marshall Derek Jewell 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第23期3628-3635,共8页
The human leucocyte antigen (HLA) complex on chromosome 6p21.3 is the most extensively studied genetic region in Inflammatory bowel disease (IBD). Consistent evidence of linkage to IBD3 (6p21.1-23), an area whic... The human leucocyte antigen (HLA) complex on chromosome 6p21.3 is the most extensively studied genetic region in Inflammatory bowel disease (IBD). Consistent evidence of linkage to IBD3 (6p21.1-23), an area which encompasses the HLA complex, has been demonstrated for both Crohn's disease and ulcerative colitis, and a number of replicated associations with disease susceptibility and phenotype have recently emerged. However, despite these efforts the HLA susceptibility gene (s) for IBD remain elusive, a consequence of strong linkage disequilibrium, extensive polymorphism and high gene density across this region. This article reviews current knowledge of the role of HLA complex genes in IBD susceptibility and phenotype, and discusses the factors currently limiting the translation of this knowledge to clinical practice. 展开更多
关键词 Inflammatory bowel disease Human leucocyte antigen complex Crohn's disease Ulcerative colitis genetics
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Therapeutic effect of Keap1-Nrf2-ARE pathway-related drugs on age-related eye diseases through anti-oxidative stress 被引量:18
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作者 Zi-Yan Cai Meng-Die Fu +1 位作者 Ke Liu Xuan-Chu Duan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2021年第8期1260-1273,共14页
Age-related eye diseases,including cataract,glaucoma,diabetic retinopathy(DR),and age-related macular degeneration(AMD),are the leading causes of vision loss in the world.Several studies have shown that the occurrence... Age-related eye diseases,including cataract,glaucoma,diabetic retinopathy(DR),and age-related macular degeneration(AMD),are the leading causes of vision loss in the world.Several studies have shown that the occurrence and development of these diseases have an important relationship with oxidative stress in the eye.The Keap1-Nrf2-ARE pathway is a classical pathway that resists oxidative stress and inflammation in the body.This pathway is also active in the development of age-related eye diseases.A variety of drugs have been shown to treat agerelated eye diseases through the Keap1-Nrf2-ARE(Kelch-like ECH-Associating protein 1-nuclear factor erythroid 2 related factor 2-antioxidant response element)pathway.This review describes the role of oxidative stress in the development of age-related eye diseases,the function and regulation of the Keap1-Nrf2-ARE pathway,and the therapeutic effects of drugs associated with this pathway on age-related eye diseases. 展开更多
关键词 oxidative stress Keap1-Nrf2-ARE pathway age-related eye diseases
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Role of genetics in prediction of disease course and response to therapy 被引量:3
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作者 Severine Vermeire Gert Van Assche Paul Rutgeerts 《World Journal of Gastroenterology》 SCIE CAS CSCD 2010年第21期2609-2615,共7页
The clinical course of Crohn's disease and ulcerative colitis is highly variable between patients,and this has therapeutic implications.A number of clinical features have been identified,which predict a mild or mo... The clinical course of Crohn's disease and ulcerative colitis is highly variable between patients,and this has therapeutic implications.A number of clinical features have been identified,which predict a mild or more severe outcome.However,several of these are subjective and/or not persistent over time.With the progress in genetics research in inflammatory bowel disease(IBD),genetic markers are increasingly being proposed to improve stratification of patients.Genetics have the major advantage of being stable over time and not prone to subjective interpretation.Nevertheless,none of the genetic variants associated with particular outcomes have shown sufficient sensitivity or specificity to have been implemented in daily management.Along the same line of thinking,pharmacogenetics or the study of association between variability in drug response and genetic variation has also received more attention as part of the endeavor for personalized medicine.The ultimate goal in this area of medicine is to adapt medication to a patient's specific genetic background and therefore improve on efficacy and safety rates.Although pharmacogenetic studies have been performed for all classes of drugs applied in IBD,few have generated consistent findings or have been replicated.The only genetic test approved for clinical practice is thiopurine S-methyltransferase testing prior to starting treatment with thiopurine analogues.The other reported associations have suffered from lack of confirmation or still need replication efforts.Nevertheless,the importance and necessity of pharmacogenetic studies will increase further as more therapeutic classes are being developed. 展开更多
关键词 genetics Inflammatory bowel diseases PHARMACOgenetics
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Applications and developments of gene therapy drug delivery systems for genetic diseases 被引量:6
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作者 Xiuhua Pan Hanitrarimalala Veroniaina +4 位作者 Nan Su Kang Sha Fenglin Jiang Zhenghong Wu Xiaole Qi 《Asian Journal of Pharmaceutical Sciences》 SCIE CAS 2021年第6期687-703,共17页
Genetic diseases seriously threaten human health and have always been one of the refractory conditions facing humanity.Currently,gene therapy drugs such as siRNA,shRNA,antisense oligonucleotide,CRISPR/Cas9 system,plas... Genetic diseases seriously threaten human health and have always been one of the refractory conditions facing humanity.Currently,gene therapy drugs such as siRNA,shRNA,antisense oligonucleotide,CRISPR/Cas9 system,plasmid DNA and miRNA have shown great potential in biomedical applications.To avoid the degradation of gene therapy drugs in the body and effectively deliver them to target tissues,cells and organelles,the development of excellent drug delivery vehicles is of utmost importance.Viral vectors are the most widely used delivery vehicles for gene therapy in vivo and in vitro due to their high transfection efficiency and stable transgene expression.With the development of nanotechnology,novel nanocarriers are gradually replacing viral vectors,emerging superior performance.This review mainly illuminates the current widely used gene therapy drugs,summarizes the viral vectors and non-viral vectors that deliver gene therapy drugs,and sums up the application of gene therapy to treat genetic diseases.Additionally,the challenges and opportunities of the field are discussed from the perspective of developing an effective nano-delivery system. 展开更多
关键词 Gene therapy drugs Viral vectors Non-viral vectors genetic diseases Nano-delivery system
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Genetic Variations and Nonalcoholic Fatty Liver Disease:Field Synopsis,Systematic Meta-Analysis,and Epidemiological Evidence
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作者 Yamei Li Xiang Xiao +5 位作者 Jie Wang Yixu Liu Xiongfeng Pan Haibin Yu Jiayou Luo Miyang Luo 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2024年第7期762-773,共12页
Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1... Objective To systematically summarize the published literature on the genetic variants associated with nonalcoholic fatty liver disease(NAFLD).Methods Literature from Web of Science,PubMed,and Embase between January 1980 and September 2022 was systematically searched.Meta-analyses of the genetic variants were conducted using at least five data sources.The epidemiologic credibility of the significant associations was graded using the Venice criteria.Results Based on literature screening,399 eligible studies were included,comprising 381 candidate gene association,16 genome-wide association,and 2 whole-exome sequencing studies.We identified 465 genetic variants in 173 genes in candidate gene association studies,and 25 genetic variants in 17 genes were included in the meta-analysis.The meta-analysis identified 11 variants in 10 genes that were significantly associated with NAFLD,with cumulative epidemiological evidence of an association graded as strong for two variants in two genes(HFE,TNF),moderate for four variants in three genes(TM6SF2,GCKR,and ADIPOQ),and weak for five variants in five genes(MBOAT7,PEMT,PNPLA3,LEPR,and MTHFR).Conclusion This study identified six variants in five genes that had moderate to strong evidence of an association with NAFLD,which may help understand the genetic architecture of NAFLD risk. 展开更多
关键词 Nonalcoholic fatty liver disease genetic association study genetic variant Systematic review META-ANALYSIS
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Dry eye disease in systemic lupus erythematosus: a cross sectional study
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作者 Sui-Fang Kang Ying-Xue Wang +2 位作者 Qi-Chen Zhang Zhi-Lun Wang Guo-Ling Chen 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第7期1255-1261,共7页
AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)patients.METHODS:Ophthalmological examinations were conducted in SLE patients(n=43)an... AIM:To explore ocular surface manifestations of dry eye disease(DED)and its influencing factors in systemic lupus erythematosus(SLE)patients.METHODS: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 test.DED was diagnosed according to the Tear Film and Ocular Surface Society Dry Eye Workshop II Criteria.SLE patients were further divided into DED group and non-DED group,the disease activity,clinical manifestations and laboratory investigations were compared between the two groups.The 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 performed.RESULTS: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 controls.The 32.6%of SLE patients had DED,which was higher than 12.2%of healthy controls.DED 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 group.According 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 patients.The 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 0.820.CONCLUSION:Ocular surface affection is frequent in SLE patients,and patients with high disease activity and cutaneous eruption show increased risk of DED. 展开更多
关键词 autoimmune disease systemic lupus erythematosus dry eye disease
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Dual‑Atom Nanozyme Eye Drops Attenuate Inflammation and Break the Vicious Cycle in Dry Eye Disease
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作者 Dandan Chu Mengyang Zhao +8 位作者 Shisong Rong Wonho Jhe Xiaolu Cai Yi Xiao Wei Zhang Xingchen Geng Zhanrong Li Xingcai Zhang Jingguo Li 《Nano-Micro Letters》 SCIE EI CAS CSCD 2024年第6期439-457,共19页
Dry eye disease(DED)is a major ocular pathology worldwide,causing serious ocular discomfort and even visual impairment.The incidence of DED is gradually increasing with the highfrequency use of electronic products.Alt... Dry eye disease(DED)is a major ocular pathology worldwide,causing serious ocular discomfort and even visual impairment.The incidence of DED is gradually increasing with the highfrequency use of electronic products.Although inflammation is core cause of the DED vicious cycle,reactive oxygen species(ROS)play a pivotal role in the vicious cycle by regulating inflammation from upstream.Therefore,current therapies merely targeting inflammation show the failure of DED treatment.Here,a novel dual-atom nanozymes(DAN)-based eye drops are developed.The antioxidative DAN is successfully prepared by embedding Fe and Mn bimetallic single-atoms in N-doped carbon material and modifying it with a hydrophilic polymer.The in vitro and in vivo results demonstrate the DAN is endowed with superior biological activity in scavenging excessive ROS,inhibiting NLRP3 inflammasome activation,decreasing proinflammatory cytokines expression,and suppressing cell apoptosis.Consequently,the DAN effectively alleviate ocular inflammation,promote corneal epithelial repair,recover goblet cell density and tear secretion,thus breaking the DED vicious cycle.Our findings open an avenue to make the DAN as an intervention form to DED and ROSmediated inflammatory diseases. 展开更多
关键词 Dry eye disease DAN Dual-atom nanozyme Vicious cycle NLRP3 inflammasome NANOMEDICINE
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Evaluation of dry eye disease symptomatology and mental health status among patients with different COVID-19 statuses
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作者 Fang Ruan Wen-Jun Kong +4 位作者 Qian Fan Hong-Wei Dong Wei Zhang Wen-Bin Wei Ying Jie 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第5期822-830,共9页
AIM:To evaluate dry eye disease(DED)symptomatology and mental health status in different COVID-19 patients.METHODS:A cross-sectional observational design was used.Totally 123 eligible adults(46.34%of men,age range,18-... AIM:To evaluate dry eye disease(DED)symptomatology and mental health status in different COVID-19 patients.METHODS:A cross-sectional observational design was used.Totally 123 eligible adults(46.34%of men,age range,18-59y)with COVID-19 included in the study from August to November,2022.Ocular Surface Disease Index(OSDI),Five-item Dry Eye Questionnaire(DEQ-5),Hospital Anxiety and Depression Scale(HADS),and Pittsburgh Sleep Quality Index(PSQI)were used in this study.RESULTS:OSDI scores were 6.82(1.25,15.91)in asymptomatic carriers,7.35(2.50,18.38)in mild cases,and 16.67(4.43,28.04)in recurrent cases,with 30.00%,35.56%,and 57.89%,respectively evaluated as having DED symptoms(χ2=7.049,P=0.029).DEQ-5 score varied from 2.00(0,6.00)in asymptomatic carriers,3.00(0,8.00)in mild cases,and 8.00(5.00,10.00)in recurrent cases,with 27.50%,33.33%,and 55.26%,respectively assessed as having DED symptoms(χ2=8.532,P=0.014).The prevalence of clinical anxiety(50.00%)and depression(47.37%)symptoms were also significantly higher in patients with recurrent infection(χ2=24.541,P<0.001;χ2=30.871,P<0.001).Recurrent infection was a risk factor for high OSDI scores[odds ratio,2.562;95%confidence interval(CI),1.631-7.979;P=0.033]and DEQ-5 scores(odds ratio,3.353;95%CI,1.038-8.834;P=0.043),whereas having a fixed occupation was a protective factor for OSDI scores(odds ratio,0.088;95%CI,0.022-0.360;P=0.001)and DEQ-5 scores(odds ratio,0.126;95%CI,0.039-0.405;P=0.001).CONCLUSION:Patients with recurrent COVID-19 have more severe symptoms of DED,anxiety,and depression. 展开更多
关键词 COVID-19 dry eye disease recurrent infection mental health
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Influencing factors of ocular pain in dry eye disease patients at high altitude
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作者 Peng-Cheng Zhang Wen-Shan Jiang +4 位作者 Ya-Zhen Wu Han-Jing Dai Dan Wang Yu-Meng Bao Hong Yan 《International Journal of Ophthalmology(English edition)》 SCIE CAS 2024年第12期2214-2220,共7页
AIM:To quantify the severity and frequency of ocular pain in Tibetan plateau patients with dry eye,and to evaluate the related factors affecting ocular pain.METHODS:A retrospective study included 160 cases of dry eye ... AIM:To quantify the severity and frequency of ocular pain in Tibetan plateau patients with dry eye,and to evaluate the related factors affecting ocular pain.METHODS:A retrospective study included 160 cases of dry eye disease(DED)patients who were treated from July 2022 to June 2023.Age,gender,occupation,illness course,anxiety,plateau duration,plateau protection,ocular surface disease index scale(OSDI),break-up time(BUT),Schirmer I test(SIT),conjunctivitis,history of ophthalmic medication,autoimmune disease,the workload of daily near vision range,smoking and overnight stay were obtained via comprehensive ophthalmic assessment,and their duration was followed up.Logistic regression analysis was used to determine the related factors affecting ocular pain.RESULTS:Totally 77.5%(124/160)of DED patients had ocular pain,of which the severity of ocular pain was mild,moderate,and severe in 30.0%,36.3%,and 11.3%of patients,respectively.Frequency of ocular pain was reported occasional,half the time,frequent,and persistent pain in 19.4%,36.9%,16.9%,and 4.4%.OSDI score was 19.67±5.70(13 to 36),and the level of pain was lowly correlated with OSDI(rs=0.316,P<0.001).Logistic regression showed that in plateau DED patients,increased anxiety led to increased severity and frequency of ocular pain[odds ratio(OR)=3.662,5.613,2.387,and 4.870;all P<0.05],professional eye protection and improvement of daily sleep quantity decreased pain(OR=0.307,0.572,0.418,and 0.789;all P<0.05),while smoking and general protection of plateau did not affect the severity and frequency of ocular pain(all P>0.05).CONCLUSION:Ocular pain is a common complaint in high-altitude DED patients during the pandemic.Anxiety,eye protection,and adequate sleep during the epidemic period are significantly associated with the severity and frequency of ocular pain in patients with plateau DED,while symptoms of DED have relatively little influence on them. 展开更多
关键词 dry eye disease ocular pain high plateau
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