Identification of novel drug targets for diabetic retinopathy: proteome-wide mendelian randomization and colocalization analyses

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Aims: To identify plasma proteins with causal links to diabetic retinopathy (DR) for potential therapeutic targets. Materials and methods: Summary statistics of plasma protein quantitative trait loci (pQTL) were derived from two extensive GWAS datasets and one systematic review, with over 100 thousand participants covering thousands of plasma proteins. DR data were sourced from the largest FinnGen study, comprising 10,413 DR cases and 30,863 European controls. Two-sample MR approach was utilized to investigate the causality of plasma proteins with DR, followed by bidirectional MR, Bayesian Co-localization analysis, and phenotype scanning to ensure robustness of the MR results. Druggability of the identified proteins were systematically evaluated. Results: Genetically predicted levels of 24 proteins were significantly associated with DR risk after multiple testing correction. For each standard deviation increase in plasm protein levels, the odds ratio (OR) for DR varied from 0.51 (95% CI: 0.36-0.73; P=2.22×10-5) for Tubulin Polymerization-Promoting Protein Family Member 3 (TPPP3) to 2.02 (95% CI: 1.44-2.83; P=5.01×10-5) for Olfactomedin like 3 (OLFML3). Four proteins exhibited strong co-localization evidence (PH4 ≥0.8): WARS, ACRBP, and ICAM1 were negatively associated with DR risk, while NOTCH2 showed a positive association. Drugability assessments highlighted these 24 proteins as potential DR targets, with two of them currently in phase I clinical trials. Conclusions: Twenty-four promising drug targets for DR were identified, including four plasma proteins with particularly promise. These findings offer new insights into DR's etiology and therapeutic targeting, exemplifying the value of genomic and proteomic data in drug target discovery.
论著

Study on the application of integrated medical and nursing group cooperation model in the management of day surgery patients in fundus surgery

:608-616
 
Objective: To investigate the practical effect of the integrated group cooperation model in managing patients with fundus diseases in day surgery. Methods: 582 patients with fundus disease who underwent day surgery from January to June in 2022 were included as the control group, and 633 patients with fundus disease who underwent day surgery from January to June in 2023 were selected as the study group. The control group implemented the overall responsibility nursing system, while the study group carried out the collaborative management model, integrating medical and nursing for the entire process of patient management. Chi-square test and T-test were used to compare the differences of perioperative nursing knowledge, health education awareness, satisfaction, emergency ophthalmological consultation rate within 24 hours of discharge, follow-up rate within 24 hours of discharge, and nurses' sense of professional benefit between the two groups. Results: The awareness of health education in the study group was higher than that in the control group, and there was significant statistically difference between two groups (t=–18.47, P<0.05). The satisfaction of patients in the study group was higher than that in the control group, and there was significant statistically difference between two groups (t=–4.005, P < 0.05). The follow-up rate within 24 hours after discharge was 100% in the study group and 98.1% in the control group, and the difference was statistically significant (χ2=12.073, P<0.05). The incidence of ophthalmic emergencies within 24 hours of discharge in the study group was 0.94%, while in the control group it was 1.89%. There was no statistically significant difference between the two groups (χ2= 1.951, P=0.222). The perceived benefit score of nurses after implementation was higher than that before implementation, and there was statistically significant between two groups (t=–6.637, P<0.05). Conclusions: The medical and nursing integrated group cooperation management model is used to manage the entire perioperative process of patients undergoing day surgery in fundus surgery. This model can improve patients' medical experience, enhance their compliance with ophthalmic surgery, ensure their safety. At the same time, it can enhance the senses of professional benefits for nurses.

Repositioning of the complete prolapsed silicone tube with modified suture-probe and silk thread traction method

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The whole lacrimal passage intubation is widely used in lacrimal surgery. However, one of the most frequent complications is the prolapse of the silicone tube from the medial canthus. In cases where the bicanalicular silicone tube after whole lacrimal duct intubation has completely prolapsed from the medial canthus before the time of extubation and cannot be found in the opening of the nasolacrimal duct, repositioning or removal can pose a challenge. A novel method employing a modified suture-probe and silk thread traction technique has been developed. This approach is both secure and effective, as well as being cost-effective.

Two cases of microphthalmia caused by MAB21L2 gene variation and systematic retrospective study of genotype-phenotype of MAB21L1 and MAB21L2

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Objective To summarize the variations and clinical characteristics of the MAB21L2 gene and compare it with the highly homologous MAB21L1 gene. Methods The pathogenic variants and clinical characteristics of MAB21L2 were analyzed based on data from Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective analysis was conducted on the phenotype-genotype relationship between the highly homologous MAB21L1 gene and the MAB21L2 gene in the reported literature. Results Two heterozygous variants in the MAB21L2 gene were identified in two families with microphthalmia. Proband 1 carried the reported variant c.151C>G/p.(Arg51Gly), manifesting with bilateral microphthalmia, iridochoroidal coloboma, along with bone and joint contractures. Her mother carried the same heterozygous variant but manifested with normal phenotypes. Proband 2 carried a novel pathogenic heterozygous variation, c.1042G>T/p.(Glu348*), manifesting with microphthalmia in the left and normal right eye without noticeable systemic abnormalities. Through a literature review, it has been observed that 80% of MAB21L2 variations (20/25) and 100% of MAB21L1 variations (25/25) occur in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC) in a dominant inheritance pattern. In addition to MAC, patients carrying variants in this region of the MAB21L2 gene were often accompanied by abnormalities in skeletal and joint development (12/24, 50%). Heterozygous truncating variants in the MAB21L2 gene could lead to MAC (5/5, 100%), while heterozygous truncating variants in MAB21L1 were non-pathogenic. Conclusions This study reported two families with MAB21L2 variants. Through a literature review, we provided a basis for the diagnosis and differential diagnosis of genetic diseases caused by defects in MAB21L1 and MAB21L2 from the molecular genetics’ perspective.

An ophthalmic examination light device for different heights and distances is provided

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In order to make the ophthalmic strabismus examination process convenient, standardized and accurate, our research team designed and developed a multifunctional, intelligent, and space-using examination module for strabismus examination, and invented an ophthalmic examination light device that met different heights and distances [Patent number: National Utility Model Patent (ZL 202320451307.8)]. The special examination light for strabismus in ophthalmology includes an intelligent fixation device, which can automatically move the fixation light to the accurate position, and has an intelligent voice prompt function to realize the voice prompt of the patient. It adopts a sliding rail lifting arm and a removable installation method to make reasonable use of space. It can better meet the requirements of ophthalmic medical and diagnostic processes.
综述

Research progress of subretinal fibrosis in wet age-related macular degeneration

:633-640
 
Age-related macular degeneration (AMD) is a degenerative disease of the macular, and wet age-related macular degeneration(wAMD) is mainly characterized by macular neovascularization, which is an important reason of visual impairment or even blindness in the elderly. Subretinal fibrosis is the most common natural sequelae of wAMD, which can lead to irreversible central vision loss by damaging photoreceptors, RPE, and choroidal capillaries. Multiple baseline features have been identified as the risk factors for subretinal fibrosis, which can be used to predict the early subretinal fibrosis. Heretofore, no anti fibrotic treatment method is effective. Anti vascular endothelial growth factor (anti VEGF) treatment is the first-line treatment for wAMD. This therapy cannot improve subretinal fibrosis, but timely initiation of treatment may help prevent or delay the progression of fibrosis. Currently, multiple targeted molecular drugs are being developed for anti fibrotic treatment. This article reviews the clinical manifestations and significance of subretinal fibrosis in wet age-related macular degeneration, baseline features for predicting the formation of fibrosis, basic pathogenesis, and potential anti-fibrosis treatment methods,aiming to provide reference for clinical diagnosis and treatment.
论著

Research on self-care ability of patients with dry eye disease and analysis of its influencing factors

:1-7
 
Objective: To understand the self-care ability of patients with dry eye and analyze its infuencing factors. Methods:total of 293 patients with dry eye were selected from Zhongshan University Zhongshan Ophthalmology Center from February 2022 to June 2022, the general data Questionnaire the general self-efcacy Scale and the self-care ability Scale survey were collected. Results: A total of 293 patients with dry eye were surveyed, and the self-care ability score was 113.34±9.98, which was at the medium level. The total score of self-care ability, the scores of self-concept, self-care responsibility, health knowledge level and self-care skills of patients with dry eye were positively correlated with the scores of self-efcacy (r=0.421, allP<0.001). Multiple linear regression analysis showed that cumulative screen usage time>10 hours/day, comorbid systemic diseases, and low self-efficacy scores were risk factors for self-care ability in patients with dry eye (P<0.05). Conclusions: Te self-care ability of patients with dry eye disease is at a medium level, and still needs to be strengthened. Medical workers should focus on patients with prolonged screen usage, comorbid systemic diseases, and low self-efficacy in their work, and tailor relevant nursing strategies to improve their self-care abilities.
论著

A survey on satisfaction with clerkship teaching among clinical medicine undergraduates

:601-607
 
Objective: To investigate the satisfaction of 5-year undergraduate students in clinical medicine with clerkship teaching and analyze its influencing factors. Methods: Anonymous online questionnaire survey was conducted. Satisfaction questionnaires were distributed to undergraduate students in the 4th year of the 5-year clinical medicine at Sun Yat- sen University who had completed clerkship in all clinical departments. Results: A total of 75 students completed the questionnaire survey. Among the most satisfactory clerkship courses, ophthalmology had the highest satisfaction rate (39 votes, 52%), followed by surgery (18 votes, 24%) and internal medicine (7 votes, 9.33%). Te top 5 options in terms of comprehensive scores for infuencing factors of teaching satisfaction are "A. Reasonable curriculum with prominent focuses", "B. High clerkship class teaching level", "C. Strong teaching staf", "D. Abundant clinical resources ", and "E. Advanced teaching methods ". When selecting the infuencing factors that rank frst (B 33.33%, A 25.86%, E 21.15%) and second (E 26.92%, B 24.56%, A 24.14%), the top three options are A, B, and E. Students atach great importance to the seting of clerkship courses, the level of clerkship courses, and the teaching methods. In terms of students' willingness to engage in ophthalmology, 5 students (6.67%) expressed great willingness, and 32 students (42.67%) expressed the possibility. Conclusions: Te seting of clerkship courses, the level of small class teaching, and the clerkship teaching method are important infuencing factors of clerkship satisfaction. Te satisfaction of clerkship has a certain impact on students' career selection.

A case of congenital cataract trifocal intraocular lens implantation combined with ICL surgery in the contralateral eye

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Abstract: Congenital cataract has a place in diseases that impair visual function in children. Although there have been huge advances in surgical techniques, most patients with congenital cataracts are younger and tend to have higher expectations for near, medium and distance vision. The production of multifocal intraocular lenses enables patients with congenital cataract to achieve satisfactory postoperative visual quality. However, trifocal intraocular lenses are usually used in patients with cataracts in one or both eyes, and there have been no literature reports of trifocal intraocular lenses and phakic posterior chamber intraocular lenses (ICL) applied to the same patient, and the postoperative visual quality of patients is unclear. Therefore, this study reported the case of "ICL implantation in the right eye + phacoemulsification combined with trifocal intraocular lens implantation in the left eye for cataract in a patient with high myopia in the right eye and congenital cataract in the left eye".

A case of congenital cataract trifocal intraocular lens implantation combined with ICL surgery in the contralateral eye

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Abstract: Congenital cataract is one of the main diseases that cause severe vision loss in children, although there has been a great leap in surgical technology, most patients with congenital cataract are young, and patients often have high expectations for near, medium and distance vision. In order to improve the visual quality of patients with congenital cataract after surgery, multifocal intraocular lenses came into being, and the application of multifocal intraocular lenses in young patients has achieved good results. However, trifocal intraocular lenses are usually used in patients with cataract in one or both eyes, and there have been no literature reports of trifocal intraocular lenses and phakic posterior chamber intraocular lenses (ICL) applied to the same patient, and the postoperative visual quality of patients is unclear. Therefore, this study reported a case of ICL implantation in the right eye with high myopia and congenital cataract in the left eye using a trifocal intraocular lens.
其他期刊
  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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