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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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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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Targeting cholesterol trafficking to mitigate axonal degeneration in hereditary spastic paraplegia
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作者 Zhenyu Chen Xue-Jun Li 《Neural Regeneration Research》 SCIE CAS 2025年第5期1397-1398,共2页
Axonal degeneration underlies many debilitating diseases including hereditary spastic paraplegia(HSP),a genetically and clinically diverse group of disorders characterized by spasticity and weakness of the lower extre... Axonal degeneration underlies many debilitating diseases including hereditary spastic paraplegia(HSP),a genetically and clinically diverse group of disorders characterized by spasticity and weakness of the lower extremities.HSP is one significant cause of chronic neurodisability due to the lack of effective treatments and a wide range of onset ages from early childhood to 70 years. 展开更多
关键词 DEGENERATION diseases hereditary
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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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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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Potential therapeutic applications of mesenchymal stem cells for the treatment of eye diseases 被引量:2
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作者 Giuliana Mannino Cristina Russo +5 位作者 Anna Longo Carmelina Daniela Anfuso Gabriella Lupo Debora Lo Furno Rosario Giuffrida Giovanni Giurdanella 《World Journal of Stem Cells》 SCIE 2021年第6期632-644,共13页
Stem cell-based treatments have been extensively explored in the last few decades to develop therapeutic strategies aimed at providing effective alternatives for those human pathologies in which surgical or pharmacolo... Stem cell-based treatments have been extensively explored in the last few decades to develop therapeutic strategies aimed at providing effective alternatives for those human pathologies in which surgical or pharmacological therapies produce limited effects.Among stem cells of different sources,mesenchymal stem cells(MSCs)offer several advantages,such as the absence of ethical concerns,easy harvesting,low immunogenicity and reduced tumorigenesis risks.Other than a multipotent differentiation ability,MSCs can release extracellular vesicles conveying proteins,mRNA and microRNA.Thanks to these properties,new therapeutic approaches have been designed for the treatment of various pathologies,including ocular diseases.In this review,the use of different MSCs and different administration strategies are described for the treatment of diabetic retinopathy,glaucoma,and retinitis pigmentosa.In a large number of investigations,positive results have been obtained by in vitro experiments and by MSC administration in animal models.Most authors agree that beneficial effects are likely related to MSC paracrine activity.Based on these considerations,many clinical trials have already been carried out.Overall,although some adverse effects have been described,promising outcomes are reported.It can be assumed that in the near future,safer and more effective protocols will be developed for more numerous clinical applications to improve the quality of life of patients affected by eye diseases. 展开更多
关键词 Mesenchymal stem cells eye diseases Diabetic retinopathy GLAUCOMA Retinitis pigmentosa Regenerative medicine
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Ocular herpes:the pathophysiology,management and treatment of herpetic eye diseases 被引量:2
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作者 Lucy Zhu Hua Zhu 《Virologica Sinica》 SCIE CAS CSCD 2014年第6期327-342,共16页
Herpesviruses are a prominent cause of human viral disease, second only to the cold and influenza viruses. Most herpesvirus infections are mild or asymptomatic. However, when the virus invades the eye, a number of pat... Herpesviruses are a prominent cause of human viral disease, second only to the cold and influenza viruses. Most herpesvirus infections are mild or asymptomatic. However, when the virus invades the eye, a number of pathologies can develop and its associated sequelae have become a considerable source of ocular morbidity. The most common culprits of herpetic eye disease are the herpes simplex virus(HSV), varicella zoster virus(VZV), and cytomegalovirus(CMV). While primary infection can produce ocular disease, the most destructive manifestations tend to arise from recurrent infection. These recurrent infections can wreck devastating effects and lead to irreversible vision loss accompanied by a decreased quality of life, increased healthcare usage, and significant cost burden. Unfortunately, no method currently exists to eradicate herpesviruses from the body after infection. Treatment and management of herpes-related eye conditions continue to revolve around antiviral drugs, although corticosteroids, interferons, and other newer therapies may also be appropriate depending on the disease presentation. Ultimately, the advent of effective vaccines will be crucial to preventing herpesvirus diseases altogether and cutting the incidence of ocular complications. 展开更多
关键词 OCULAR HERPES herpetic eye diseases VARICELLA ZOSTER virus(VZV) cytomegalovirus(CMV) HERPES simplex virus(HSV)
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Distribution of Eye Diseases in Kasungu District, Malawi, Central Africa—A Retrospective Cross-Sectional Study
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作者 Richard Kang Jae Jun Kim +5 位作者 Paul Chung Gyuri Hwang Jung Sung Kim Seunghan Baek Eun Jung Im George Talama 《Advances in Infectious Diseases》 2018年第2期64-69,共6页
Analysis of eye diseases of patients at Kasungu District Hospital in Malawi was made. Malawi is one of the poorest countries in the world and the health system faces a lot challenges in terms of resources. The study w... Analysis of eye diseases of patients at Kasungu District Hospital in Malawi was made. Malawi is one of the poorest countries in the world and the health system faces a lot challenges in terms of resources. The study was, therefore, done to understand the burden and distribution of eye diseases in this resource-limited setting. A retrospective study was conducted by extracting data from data registers in the outpatient eye department for the period of May 2015 to June 2016. The data of the reported eye diseases analyzed with variables such as patient gender, eye disease type, patient age and times of the year. There was no association between eye diseases and gender nor with times of the year. However, it was noted that the commonest type of eye disease was conjunctivitis. And, there was strong association of some disease type with age, for example, conjunctivitis was common in young age group while cataract was common in the elderly. It was shown in this study that many of the eye diseases endemic in Africa do generally occur in this selected district as well. However, the analysis presents the possibility of reducing the incidences of many diseases by preventive measures and access to health facilities on time. 展开更多
关键词 eye diseases Kasungu DISTRICT Malawi
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Chlorinated Polyfluoroalkyl Ether Sulfonic Acids(Cl-PFESAs)Are Associated with Eye Diseases in Humans and Eye Toxicity in Zebrafish
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作者 Lu-Yin Wu Li-Xia Liang +11 位作者 Yang Zhou Zeeshan Mohammed Zhengmin Min Qian Stephen Edward McMillin Maya Tabet Chu Chu Yuan-Yuan Fan Jia-Xin Zhou Jing-Wen Huang Wei-Hong Tan Guang-Hui Dong Li-Zi Lin 《Environment & Health》 2024年第6期390-400,共11页
Evidence from animal experiments has shown that chlorinated polyfluoroalkyl ether sulfonic acids(Cl-PFESAs)can induce vision dysfunction in zebrafish.However,environmental epidemiological evidence supporting this hypo... Evidence from animal experiments has shown that chlorinated polyfluoroalkyl ether sulfonic acids(Cl-PFESAs)can induce vision dysfunction in zebrafish.However,environmental epidemiological evidence supporting this hypothesis remains limited.In our case−control study,samples collected from 270 individuals(135 controls and 135 cases)from the Isomers of C8 Health Project data were analyzed for Cl-PFESAs.We also repeated our analysis on zebrafish to support our findings in humans and to decipher the mechanism underlying Cl-PFESA eye toxicity.The serum levels of per-and polyfluoroalkyl substances(PFASs)and alternatives were significantly higher in the cases than in the controls.Higher serum Cl-PFESA levels were associated with greater odds of eye diseases,and the trend showed a statistically significant dose-dependent relationship.The Shapley additive explanations(SHAP)value indicated that 8:2 Cl-PFESA was the dominant eye disease risk factor among the 13 studied PFASs.In zebrafish experiments,Cl-PFESAs induced eye toxicity in adult zebrafish by oxidative damage and cell apoptosis.Compared to the control group,there was significantly reduced thicknesses of the inner plexiform layer(IPL),outer plexiform layer(OPL),and retinal tissue in the zebrafish exposed to Cl-PFESAs.Our study provides human clinical and animal experimental data,showing that exposure to PFASs increases the odds of the development of eye toxicity. 展开更多
关键词 eye diseases chlorinated polyfluoroalkyl ether sulfonic acids(Cl-PFESAs) case−control study shapley additive explanations(SHAP) zebrafish experiment
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Advances in single-cell sequencing technology and its application in eye diseases
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作者 Zheyao Chen Youjin Hu 《Eye Science》 2024年第2期128-144,共17页
Vision serves as the cornerstone of rountine human life activities,wherein approximately 80%of information is perceived visually.Eye diseases,however,frequently culminate in vision impairment or blindness,severely aff... Vision serves as the cornerstone of rountine human life activities,wherein approximately 80%of information is perceived visually.Eye diseases,however,frequently culminate in vision impairment or blindness,severely affecting the quality of life.Due to the obscurity of the underlying molecular mechanisms,therapeutic outcomes for various blinding eye diseases remain suboptimal.Over the past decade,the development of single-cell genomics technology has made it possible to obtain multi-dimensional insights into genomes,epigenomes,transcriptomes,and proteomes of tissues and organs at the single-cell level,providing a potent tool for elucidating the molecular mechanisms of eye diseases and advancing precision diagnosis.Meanwhile,single-cell genomics technology has also been harnessed in drug discovery and screening,promising to transform traditional drug development paradigm that is often characterized by high cost[1],time-consuming[2],and substantial failure rate.This review aims to describe the cutting-edge advances in single-cell omics technology and its applications in precision diagnosis of eye diseases as well as drug discovery and screening. 展开更多
关键词 SINGLE-CELL multi-omics eye diseases drug discovery
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Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow-derived stem cells in the treatment of Leber's hereditary optic neuropathy 被引量:10
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作者 Jeffrey N. Weiss Steven Levy Susan C. Benes 《Neural Regeneration Research》 SCIE CAS CSCD 2016年第10期1685-1694,共10页
The Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthal- mology trial registered at ClinicalTrials.gov (identifier: NCT01920867). SCOTS utilizes autologous bone marrow... The Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthal- mology trial registered at ClinicalTrials.gov (identifier: NCT01920867). SCOTS utilizes autologous bone marrow-derived stem cells (BMSCs) to treat optic nerve and retinal diseases. Treatment approaches include a combination of retrobulbar, subtenon, intravitreal, intra-optic nerve, subretinal, and intravenous injection of autologous BMSCs according to the nature of the disease, the degree of visual loss, and any risk factors related to the treatments. Patients with Leber's hereditary optic neuropathy had visual acuity gains on the Early Treatment Diabetic Retinopathy Study (ETDRS) of up to 35 letters and Snellen acuity improvements from hand motion to 20/200 and from counting fingers to 20/100. Visual field improvements were noted. Macular and optic nerve head nerve fiber layer typically thickened. No serious complications were seen. The increases in visual acuity obtained in our study were encouraging and suggest that the use of autolo- gous BMSCs as provided in SCOTS for ophthalmologic mitochondrial diseases including Leber's hereditary optic neuropathy may be a viable treatment option. 展开更多
关键词 nerve regeneration Leber's hereditary optic neuropathy mitochondrial disease optic neuropathy bone marrow derived stem cells BLINDNESS visual loss neural regeneration
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The Mitochondrial DNA Mutation at Position 11778 in Chinese Families with Leber's Hereditary Optic Neuropathy 被引量:6
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作者 Lishan Zhang, Ying Huang, Fangyuan Li, ShijunWang, Bin Zhu Ziping Zhang, Yi Tong, Jinjuan GaoDepartment of Biology, Nanjing Railway Medical College Nanjing 210009, ChinaDepartment of Opthahalmology, Fujian Medical College Fuzhou 350005, China 《眼科学报》 1994年第3期151-156,共6页
We amplified the 340 bp of mitochondrial DMA (mtDNA) by PCR including the recognized sequence of restriction enzyme of SfaN I . After amplification and digestion of SfaN I , two bands of 190 bp and 150 bp appeared in ... We amplified the 340 bp of mitochondrial DMA (mtDNA) by PCR including the recognized sequence of restriction enzyme of SfaN I . After amplification and digestion of SfaN I , two bands of 190 bp and 150 bp appeared in the mtDNA of four normal individuals but only one band of 340 bp appeared in the mtDNA with the mutation of G to A at the site of the nucleotide 11778 because such mutation destroyed the recognized sequence of SfaN I . We studied the mtDNAs of the patients with Leber's hereditary optic neur... 展开更多
关键词 mitochondrial disease mitochondrial DNA Leber’s hereditary optic neuropathy (LHON) gene mutation
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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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Induced pluripotent stem cells:Landscape for studying and treating hereditary hearing loss 被引量:2
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作者 Tao Peng Yunpeng Dong +1 位作者 Ganghua Zhu Dinghua Xie 《Journal of Otology》 2014年第4期151-155,共5页
Hearing loss(HL) is one of the most widespread sensory disorders,affecting approximately 1 in 500 newborns.Heritable diseases of the inner ear are the leading causes of prelingual HL.Treating of hereditary HL and unde... Hearing loss(HL) is one of the most widespread sensory disorders,affecting approximately 1 in 500 newborns.Heritable diseases of the inner ear are the leading causes of prelingual HL.Treating of hereditary HL and understanding its underlying mechanisms remain difficult challenges to otolaryngologists.As stem cells are capable of self-renewal and differentiation,they are ideally suited both for disease modeling and regenerative medicine.Recently,description of induced pluripotent stem cells(iPSCs) has allowed the field of disease modeling and personalized therapy to become far more accessible and physiologically relevant,as iPSCs can be generated from patients of any genetic background.This review briefly describes the advantages of iPSCs technology and discusses potential applications of this powerful biological tool in studying and treating hereditary HL. 展开更多
关键词 IPSCS hereditary hearing loss Disease modeling Genetic correction
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Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center 被引量:2
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作者 Silvia De Pauli Sara Lega +5 位作者 Serena Pastore Domenico Leonardo Grasso Anna Monica Rosaria Bianco Giovanni Maria Severini Alberto Tommasini Andrea Taddio 《World Journal of Clinical Pediatrics》 2018年第1期49-55,共7页
AIM To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever(UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help... AIM To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever(UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help predicting the response to treatment and the outcome at follow-up.METHODS Clinical and therapeutic information of patients with recurrent fever who presented at a single pediatric rheumatology center from January 2006 through April 2016 were retrospectively collected. Patients with a clinical suspicion of hereditary periodic fever(HPF) syndrome and patients with clinical picture of periodic fever, aphthae, pharingitis, adenitis(PFAPA) who were refractory to tonsillectomy underwent molecular analysis of five HPF-related genes: MEFV(NM_000243.2), MVK(NM_000431.3), TNFRSF1 A(NM_001065.3), NLRP3(NM_001079821.2), NLRP12(NM_001277126.1). All patients who had a negative genetic result were defined as UPF and further investigated. PRINTO-Eurofever score for clinical diagnosis of HPF was calculated in all cases. RESULTS Of the 221 patients evaluated for periodic fever, twelve subjects with a clinical picture of PFAPA who were refractory to tonsillectomy and 22 subjects with a clinical suspicion of HPF underwent genetic analysis. Twenty-three patients(10.4%) resulted negative and were classified as UPF. The median age at presentation of patients with UPF was 9.5 mo(IQR 4-24). Patients with UPF had a higher frequency of aphthae(52.2% vs 0%, P = 0.0026) and musculoskeletal pain(65.2% vs 18.2%, P = 0.0255) than patients with genetic confirmed HPF. Also, patients with UPF had a higher frequency of aphthous stomatitis(52.2% vs 10.7%, P < 0.0001), musculoskeletal pain(65.2% vs 8,0%, P < 0.0001), and abdominal pain(52.2% vs 4.8%, P < 0.0001) and a lower frequency of pharyngitis(56.6% vs 81.3%, P = 0.0127) compared with typical PFAPA in the same cohort. Twenty-one of 23 patients with UPF(91.3%) received steroids, being effective in 16; 13(56.2%) were given colchicine, which was effective in 6. Symptoms resolution occurred in 2 patients with UPF at last follow-up. Classification according to the PRINTOEurofever score did not correlate with treatment response and prognosis. CONCLUSION UPF is not a rare diagnosis among patients with periodic fever. Clinical presentation place UPF half way on a clinical spectrum between PFAPA and HPF. The PRINTOEurofever score is not useful to predict clinical outcome and treatment response in these patients. 展开更多
关键词 hereditary PERIODIC FEVER syndromes Therapy Genetics AUTOINFLAMMATORY diseases UNDIFFERENTIATED PERIODIC FEVER
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Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients
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作者 Xiaobo Li Xiaohong Zi +9 位作者 Lin Li Yajing Zhan Shunxiang Huang Jin Li Xuning Li Xigui Li Zhengmao Hu Kun Xia Beisha Tang Ruxu Zhang 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第32期2522-2527,共6页
We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Toot... We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure palsies. The proband and one subclinical family member from the Charcot-Marie-Tooth disease type 1 family had a PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22 gene deletion. Electron microscopic analysis of ultrathin sections of the superficial peroneal nerve from the two probands demonstrated demyelination and myelin sheath hyperplasia, as well as an 'onion-like' structure in the Charcot-Marie-Tooth disease type 1A patient. We observed an irregular thickened myelin sheath and 'mouse-nibbled'-Iike changes in the patient with hereditary neuropathy with liability to pressure palsies. In the Charcot-Marie-Tooth disease type 1A patient, nerve electrophysiological examination revealed moderate-to-severe reductions in the motor and sensory conduction velocities of the bilateral median nerve, ulnar nerve, tibial nerve, and sural nerve. Moreover, the compound muscle action potential amplitude was decreased. In the patient with hereditary neuropathy with liability to pressure palsies, the nerve conduction velocity of the bilateral tibial nerve and sural nerve was moderately reduced, and the nerve conduction velocity of the median nerve and ulnar nerve of both upper extremities was slightly reduced. 展开更多
关键词 Charcot-Marie-Tooth disease hereditary neuropathy with liability to pressure palsies peripheral myelin protein 22 gene mutation PCR-double digestion method myelin sheath action potentia neuropathology neural regeneration
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Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly
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作者 Neal J. Weinreb Barry E. Rosenbloom 《Open Journal of Genetics》 2013年第1期24-43,共20页
Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disord... Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were the correct diagnosis suspected. In this review article, we discuss the definition and clinical ramifications of “massive” splenomegaly and describe several rare genetic disorders that are sometimes associated with marked splenic enlargement as well as four additional hereditary “splenomegalic” lysosomal storage diseases (cholesterol esterase storage disease, Niemann-Pick C disease, acid sphingomyelinase deficiency disease, Gaucher disease) in which approved or promising experimental treatments should generally obviate the need for palliative splenectomy. We also summarize current concepts about the appropriate use of splenectomy in patients with β-thalassemia, hereditary spherocytosis and Gaucher disease and discuss surgical alternatives to classical total splenectomy for these disorders. 展开更多
关键词 SPLENOMEGALY hereditary Metabolic DISORDERS Splenectomy Lysosomal Storage diseases GAUCHER Disease SPHEROCYTOSIS Thalassemia
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The essential role of N6-methyladenosine RNA methylation in complex eye diseases 被引量:1
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作者 Xiaohua Li Binyun Ma +9 位作者 Wenfang Zhang Zongming Song Xiaodan Zhang Mengyu Liao Xue Li Xueru Zhao Mei Du Jinguo Yu Shikun He Hua Yan 《Genes & Diseases》 SCIE CSCD 2023年第2期505-520,共16页
There are many complex eye diseases which are the leading causes of blindness,however,the pathogenesis of the complex eye diseases is not fully understood,especially the underlying molecular mechanisms of N6-methylade... There are many complex eye diseases which are the leading causes of blindness,however,the pathogenesis of the complex eye diseases is not fully understood,especially the underlying molecular mechanisms of N6-methyladenosine(m6A)RNA methylation in the eye diseases have not been extensive clarified.Our review summarizes the latest advances in the studies of m6A modification in the pathogenesis of the complex eye diseases,including cornea disease,cataract,diabetic retinopathy,age-related macular degeneration,proliferative vitreoretinopathy,Graves’disease,uveal melanoma,retinoblastoma,and traumatic optic neuropathy.We further discuss the possibility of developing m6A modification signatures as biomarkers for the diagnosis of the eye diseases,as well as potential therapeutic approaches. 展开更多
关键词 DEGENERATION eye diseases FIBROSIS INFLAMMATION m6A RNA methylation Tumor
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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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