To perform a meta-analysis of single nucleotide polymorphism needs to calculate gene frequency. This paper employs allele model as an example to introduce how to calculate gene frequency and display the process of a meta-analysis of single nucleotide polymorphism data using Review Manager 5.3 software.
Epigenetic modifications such as DNA methylation, histone post-translational modifications, non-coding RNA are reversible, heritable alterations which are induced by environmental stimuli. Major risk factors of diabetes and diabetic complications including hyperglycemia, oxidative stress and advanced glycation end products, can lead to abnormal epigenetic modifications in retinal vascular endothelial cells and retinal pigment epithelium cells. Epigenetic mechanisms are involved in the pathogenesis of macular edema and neovascularization of diabetic retinopathy (DR), as well as diabetic metabolic memory. The heritable nature of epigenetic marks also playsakey role in familial diabetes mellitus. Further elucidation of epigenetic mechanisms in DR can open the way for the discovery of novel therapeutic targets to prevent DR progression.
Central serous chorioretinopathy (CSC) is one of the representative pachychoroid spectrum disease. Although fundus fluorescein angiography and indocyanine green angiography can be used as the gold standard for the diagnosis of CSC, they are invasive examinations, which may bring certain risks in clinical application and cannot help us obtain quantitative parameters. Optical coherence tomography angiography (OCTA), as a non-invasive and quantitative examination, is an important imaging tool for understanding the pathogenesis, diagnosis and treatment of CSC. With the advancement of OCTA, the swept-source OCTA has a satisfying scanning depth, a wider scanning range and a higher resolution. The development of OCTA broadens the horizons of the pathogenesis of CSC, promotes the understanding of the pathophysiology of CSC, and sheds new light for its clinical diagnosis and treatment. Based on OCTA, the choroid and retina in eyes with CSC are presented with qualitative and quantitative changes in vascular system. OCTA-guided CSC treatment and the discovery of prognostic markers based on OCTA challenge the application of traditional imaging techniques in CSC. With the continuous improvement and progress of OCTA technology, traditional angiography combined with OCTA will bring great benefits to the diagnosis and treatment of CSC. This review summarizes the quantitative application of OCTA in the pathogenesis, diagnosis and treatment of CSC.
The suprachoroidal space (SCS) is the potential space between the sclera and choroid. Drugs delivered through SCS can bypass the sclera, avoiding clearance by conjunctival and scleral blood vessels and lymphatic circulation, so that more drugs can reach the disease tissues such as choroid and retina. SCS drug delivery does not disrupt the ocular integrity, is safer than the intravitreal drug injection and more effective than trans-scleral drug delivery. In addition, SCS delivery only needs a very small volume of drug, which makes it possible to be carried out in multiple parts of the sclera, and the specific disease area can be more precisely targeted. SCS drug delivery is suitable for the treatment of choroidal and retinal diseases. However, currently SCS drug delivery is still a novel field and many aspects need to be more in-depth studied, including its safety, delivery methods, drug formulation and effectiveness.
Objective To introduce the latest advances of research on repair of the degenerative intervertebral disc with gene transduction.Methods The recentlypublished articles about the treatment of degenerative disc with gene transduction were reviewed, especially the articles published during the recent 5 years about the application of this therapy to regulating the synthesisand degradation of the extracellular matrix of the degenerative intervertebral disc.Results The shape and function of the normal intervertebral disc were reported to be closely related to the synthesis and degradation of the extracellular matrix of the intervertebral disc. The extracellular matrix of the intervertebral disc was a target for the gene transduction to repair the degenerative intervertebral disc. There was a great development of the treatment with gene transduction, especially in vector choice, target gene transduction, and transgene regulation and safety. Conclusion The advances of the research have indicated that repair of the degenerative intervertebral disc with gene transduction is a keyto curing the disease of the degenerative intervertebral disc.
Cryptogenic stroke (CS) accounts for 25% of ischemic stroke. The etiology of undetermined stroke is unclear leading to untargeted secondary prevention, high recurrence rate, so the clinical burden of cryptogenic stroke is substantial. Cardiac magnetic resonance (CMR) imaging can identify more occult cardiac embolism that cannot be identified by standard cardiac assessment based on its excellent spatial resolution and contrast, three-dimensional imaging capacity and ability to depict soft tissues, to accelerate the initiation of optimal secondary prevention and improve the prognosis of patients. This review summarizes the application of CMR in the field of CS in recent years. Based on the latest evidence of diagnosis and management strategies, this paper proposes a cardiac diagnostic examination plan for CS patients, thereby improving the secondary prevention strategy of CS patients and improving their quality of life.
Age-related macular degeneration (AMD) involves dysregulation of the innate immune response of complement and mononuclear phagocytes and abnormalities of local microglia. When microglia transition from a resting state to an active state, their metabolic pathway also changes, known as "metabolic reprogramming", and their glucose metabolic reprogramming is a key factor in the pathogenesis of AMD, involving multiple signaling pathways. Including phosphatidylinositol 3-kinase-serine threonine kinase-rapamycin target, adenylate activated protein kinase and hypoxia-inducing factor 1 pathway. These metabolic changes regulate the inflammatory response, energy supply, and neuroprotective functions of microglia. Therapeutic strategies to regulate the reprogramming of glucose metabolism in microglia have achieved initial results. Future studies should further explore the mechanisms of microglia metabolic regulation to develop new targeted drugs and intervene in the treatment of AMD through anti-cellular aging pathways.
The fundus lesions caused by high myopia (HM) often lead to irreversible visual impairment or even blindness. However, the pathogenesis of HM and its fundus lesions is still unclear, the intraocular fluid detection technology of micro samples has brought new prospects for the early diagnosis, monitoring and intervention of the fundus lesions. The molecules associated with HM are various and functionally diverse, intermolecular interactions are staggered and the specific mechanism is complex. With the development of intraocular fluid detection technology, while gradually revealing the role of each molecule in the pathogenesis of HM, it is expected to successfully assist clinical work in the future, providing outpost markers for the progress of myopia and targets for early intervention, or providing a new therapy choice for HM fundus lesions at the molecular level targeting pathogenesis, which is expected to provide more accurate and effective treatment for HM patients in the future.
According to different experimental methods of induced diabetic retinopathy (DR) and different characteristics of the observed retinopathy, DR animal models can be divided into drug or dietary-induced models, oxygen-induced retinopathy (OIR) models, spontaneous inheritance models, and transgenic models. At present, induced model is one of the most commonly used animal model for DR study, which has the advantages of short modeling cycle, low cost, simple experimental operation and good repeatability. However, the drugs have certain side effects on various organs of animals and the risk of animal death is higher. OIR model has good repeatability, good stability and relatively low cost. However, due to the lack of metabolic changes of hyperglycemia in OIR mice, this model cannot accurately reflect the effects of metabolism on retina under hyperglycemia. The pathological changes of the spontaneous model are relatively stable, however, the application of this model is limited because the genetic homogeneity of diabetes differs from that of human and the cost is high. Transgenic model has definite etiology, however, its application is limited owing to the high cost and the high requirements of technology, operation and equipment. Therefore, researchers should comprehensively consider characteristics and limitations of different models while choosing suitable DR model based on research objectives, observation indicators, experimental conditions, and funds. In addition, animal models that can more accurately simulate DR need to be developed to provide more effective tools for studying the mechanism of DR and developing feasible prevention and treatment approaches.
High myopia is a disease with a high incidence rate and an increasing trend, which could lead to irreversible visual impairment worldwide. Myopia traction maculopathy (MTM), belonging to one of the pathological changes of high myopia, could cause vision damage and even blindness in patients. Recently, a new classification of MTM based on optical coherence tomography can effectively evaluate the condition of patients and is helpful for the diagnosis and treatment of MTM. Moreover, the improvement of internal limiting membrane peeling method and the innovation of macular buckle material provide new ideas for the treatment of MTM based on traditional surgery. New treatment such as vitreal traction release laser surgery, enzymatic vitreolysis and posterior scleral crosslinking have gained increasing attention. By combining these new treatments with artificial intelligence, 3D printing technology and advanced vitrectomy equipment, it is hoped that a safer and more effective treatment for MTM will be found in the future.