Usher syndrome (USH) is an autosomal recessive hereditary disease, characterized as retinitis pigmentosa and deafness. According to the severity of hearing loss, presence or absence of vestibular dysfunction, Usher syndrome is divided into 3 clinical subtypes: USH1, USH2 and USH3. Due to the genetically heterogeneous, it is important and valuable to find out the gene mutations in USH patients, which will be helpful to prenatal diagnosis, early intervention and gene therapy. Till now, the following 13 USH-related chromosomal loci were reported in the literature: USH1B, USH1C, USH1D (CDH23 gene), USH1F (PCDH15 gene), USH1G (SANS gene), USH1E, USH1H, USH1J and USH1K, USH2A, USH2C, USH2D and USH3 (CLRN1 gene). Ten out of all 13 loci have been located and identified. But more mechanisms should be further investigated, such as the relationship between the locus of gene mutations and clinical symptoms, how the modified protein structures and functions trigger clinical symptoms.
Objective To observe the axial length and anterior chamber depth in eyes with branch retinal vein occlusion (BRVO). Methods Randomly selected 90 eyes of forty-five patients with BRVO were enrolled in this study. There were 25 males and 20 females. The mean age was (46.22±13.45) years. All the patients were underwent examination of visual acuity, slit-lamp microscope, indiophthalmoscope, fundus color photography and fundus fluorescence angiography (FFA). Randomly selected 45 healthy individuals for control group, including 28 males and 17 females. The mean age was (48.24±15.77) years. The axial lengths and anterior chamber depths of affected and fellow eyes of BRVO patients and the eyes of controls were measured using IOL Master. The data were compared by the two sample paired t test. Results The mean axial length of the affected eyes in the BRVO group was (22.69±0.99) mm, and that of the fellow eyes group was (22.78±1.24) mm. The difference in axial length between the affected eyes and fellow eyes in the BRVO group was not significant (t=0.355, P＞0.05). The mean axial length of the right eyes in the control group was (23.38±1.32) mm, and that of the left eyes in the control group was (23.37±1.27) mm. The difference in axial length between the left eyes and right eyes in the control group was not significant (t=0.017, P＞0.05), while the difference in axial length between the affected eyes in the BRVO group and the right, left eyes in the control group was significant (t=−2.563, −2.663; P＜0.05). The mean anterior chamber depth of the affected eyes in the BRVO group was (2.66±0.26) mm, and that of the fellow eyes was (2.65±0.30) mm. The difference in anterior chamber depth between the affected eyes and fellow eyes in the BRVO group was not significant (t=0.089, P＞0.05). The mean anterior chamber depth of the right eyes in the control group was (2.56±0.29) mm, and that of the left eyes was (2.59±0.30) mm. The difference in anterior chamber depth between the left eyes and right eyes in the control group was not significant (t=−0.592, P＞0.05). The difference in anterior chamber depth between the affected eyes in the BRVO group and the right, left eyes in the control group was not significant (t=1.779, 1.778, P＞0.05). Conclusion In the affected eyes of BRVO, the axial length is shorter and anterior chamber depth is normal.
Vogt-Koyanagi-Harada syndrome (VKH) is an autoimmune disorder primarily characterized by bilateral granulomatous uveitis, which can lead to severe visual impairment and related complications. Traditional treatment typically involves glucocorticoid combined with immunosuppressants, but these therapies are associated with significant side effects, limited efficacy, and poor long-term prognosis. In recent years, biologic agents have emerged as a promising treatment for refractory VKH due to their targeted action, high efficacy, and low toxicity. Tumor necrosis factor-alpha (TNF-α) inhibitors, such as infliximab and adalimumab, have shown significant benefits in controlling inflammation, improving vision, and reducing steroid dependence, making them a key option for difficult-to-treat VKH. Among interleukin (IL) blockers, tocilizumab has demonstrated potential in patients who do not respond to traditional treatments. Rituximab, a B-cell targeting agent, has shown good efficacy and safety in patients resistant to TNF-α inhibitors. Additionally, research into novel biologics targeting the IL-23/IL-17 axis and IL-33 offers new directions for VKH therapy. While biologics provide clear advantages in VKH treatment, further research is needed to explore their long-term safety, cost-effectiveness, and optimal treatment regimens. Large-scale randomized controlled trials are required to validate their efficacy and identify personalized treatment strategies to improve long-term patient outcomes.
Objective To investigate the mutations of the gene in Chinese patients with X linked juvenile retinoschisis (XLRS), and to provide the genetic diagnosis and consultation of heredity for the patients and their families. Methods Genomic DNA was isolated from leukocytes of 29 male patients with XLRS, 38 female carriers and 100 normal controls (the patients and the carriers were from 12 families). All 6 exons of XLRS1 gene were amplified by polhism (SSCP) assay. The positions and types of XLRS1 gene mutations were determined by direct sequencing. Results Eleven different XLRS1 mutations were identified in these 12 families, including one frameshift mutation due to base loss of the first exon: c.22delT（L9CfsX20）, one nonsense mutation due to base loss of the first exon (Trp163X), one splice donor site mutation(c.52+2 Trarr;C; IVS1+2T to C), and eight missense mutation due to base replacement（Ser73Pro, Arg102Gln, Asp145His, Arg156Gly, Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg). No gene mutation was detected in the control group. Four new mutations included frmaeshift mutation（L9CfsX20）and mutations of Asp145His, Arg156Gly, and Trp163X at the fifth exon. A newly discovered non-disease-related polymorphism (NSP) was the c.576C to T (Pro192Pro) change at the sixth exon. Conclusion Eleven different XLRS1 mutations were detected, which is the cause of XLRS in Chinese people. The detection of gene mutations may provide the guidance of genetic diagnosis and the consultation of family heredity for the patients and their families. (Chin J Ocul Fundus Dis, 2006, 22: 77-81)
Vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF) and complements play key roles in the pathogenesis of age-related macular degeneration (AMD). Pegaptanib, the first therapeutic aptamer against VEGF165, has been approved by the Food and Drug Administration (FDA) of US for the treatment of exudative AMD. Another two aptamers E10030 and ARC1905, each target PDGF-B and complement C5 respectively, are undergoing clinical trials. Recent trends to treat AMD are combined therapies targeting multiple key molecules in the pathogenesis of AMD; aptamers against multiple targets may become the preferred drug for AMD.
ObjectiveTo explore the echocardiography characteristics of aortic valve disease (AVD) among different ethnic groups in Xinjiang.MethodsThe data of a large sample (n=130 358) of different ethnic groups in Xinjiang based on the results of echocardiography were analyzed between January 2011 and December 2016, and the echocardiography characteristics of AVD among the Han nationality and different ethnic minorities in Xinjiang were summarized.ResultsThe study recruited 130 358 patients, involving Han nationality (58.49%) and 33 ethnic minorities. The ethnic minorities included the Uygur (27.42%), Kazak (7.47%), Hui nationality (3.48%) and other minorities (3.13%). Apart from Uygur, Kazak and Hui nationality, no description was given due to the small sample sizes of other minorities (3.13%). In the total study population, the prevalence of aortic valve stenosis (AS) was 0.44%, and the prevalence of severe AS was 0.10%; the prevalence of aortic valve regurgitation (AR) was 0.37%, and the prevalence of severe AR was 0.02%; the prevalence of aortic valve calcification (AVC) was 6.51%, and the highest AVC prevalence existed in ≥75 years old age group (24.45%); the prevalence of bicuspid aortic valve (BAV) was 0.54%, and the highest BAV prevalence existed in 18-44 years old age group (0.86%). Among different ethnic groups, the Uygur had the highest prevalence in terms of AS (0.60%), AR (0.63%) and BAV (0.88%), while the Han had the lowest prevalence in terms of AS (0.37%) and AR (0.24%), but the highest AVC prevalence existed in the Han nationality (7.83%). The etiology of AVD showed that the degenerative valve changes was the main cause of AS with the largest proportion of 61.97%. While the aorta root diseases (35.97%) and BAV (22.87%) were the main etiology of AR.ConclusionsIn Xinjiang the overall prevalence of AVD is low. In the elderly population, the Uygur, Kazak and Hui nationality have the higher AS prevalence than the Han nationality does. Different ethnic groups have different AVD characteristics based on the echocardiography. In the Uygur group, AVD presents the younger age of onset; the prevalence of BAV is the highest in the Uygur population, while the lowest in the Hui nationality.
Objective To screen pyroptosis-related miRNAs of acute aortic dissection (AAD) from the GEO database, and analyze and verify their functions. MethodsThe microarray data set based on the miRNA chip in the GEO database was downloaded, the differentially expressed miRNAs were screened, and the target genes were predicted by the miRWalk database. Pyroptosis-related genes (PRGs) were searched in the PubMed database with "pyroptosis" as the keyword, and the intersection of PRGs and differential miRNAs predicting target genes were taken as AAD PRGs by Venn diagram. GO and KEGG enrichment analyses were performed. CytoHubba was used to screen the critical AAD PRGs and then the AAD pyroptosis-related miRNAs were identified. Aortic tissues were collected from gender- and age-matched AAD patients and healthy people, and the critical PRGs and miRNAs were verified by Western blotting and RT-qPCR. ResultsA total of 46 AAD differentially expressed miRNAs were screened, and 49 AAD PRGs were obtained by Venn diagram. GO enrichment analysis showed that the genes played a vital role in apoptosis regulated by cysteine endopeptidases. KEGG analysis showed that the genes enriched in Salmonella infection, necroptosis, and Nod-like receptor signaling pathways. CytoHubba screened the critical AAD PRGs such as cysteine aspartase-1 (Caspase-1), tumor necrosis factor (IL)-1β, and tumor necrosis factor (TNF), then obtained 12 AAD pyroptosis-related miRNAs. Aortic tissues were collected from 6 AAD patients and 6 healthy people. There were 5 males and 1 females in the AAD group with an average age of 48.70±6.35 years, and 4 males and 2 females in the healty control group with an average age of 45.30±4.58 years. There was no statistical difference between the two groups in terms of gender, age, smoking history, hypertension, diabetes, or coronary heart disease (P>0.05). Western blotting and RT-qPCR results showed that Caspase-1 was up-regulated in the AAD patients' aortic tissues compared with the healthy aorta, and the corresponding miRNAs were miR-198, miR-3202, and miR-514b-5p, which were all down-regulated. Conclusion Through bioinformatics analysis and verification, the critical AAD PRGs are Caspase-1, IL-1β, and TNF, and Caspase-1 is up-regulated and 3 corresponding pyroptosis-related miRNAs are down-regulated, which provides new ideas for the molecular mechanism and targeted therapy of AAD cell pyroptosis.