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Objective:To investigate the expression levels of serum miR-126 and miR-9 in patients with wet age-related macular degeneration (wAMD) and their relationship with vascular endothelial growth factor (VEGF) and central macular thickness (CMT).Methods:A total of 73 wAMD patients(observation group) admitted to the ophthalmology department of Taizhou Municipal Hospital from May 2020 to May 2021 and 60 healthy subjects (control group) who underwent physical examination during the same period were selected. Real-time quantitative polymerase chain reaction (qRT-PCR) was used to detect the expression levels of miR-126 and miR-9 in serum of the two groups. Serum angiogenesis regulatory factors [VEGF, tissue inhibitor of melalloproteinuses-1 (TIMP-1), endostatin (ES), platelet-derived growth factor (PDGF)] were detected by enzyme-linked immunosorbent assay (ELISA), and CMT and intraocular pressure (IOP) were measured. Pearson correlation analysis was performed to determine the correlation between miR-126 and miR-9 and serum angiogenesis regulatory factor levels, CMT and IOP. The diagnostic value of miR-126 and miR-9 in wAMD was analyzed by receiver operating characteristic (ROC) curve.Results:The relative expression level of serum miR-126 in observation group was significantly lower than that in control group ( P<0.05) , while the relative expression level of serum miR-9 was significantly higher than that in control group ( P<0.05). The levels of serum VEGF and PDGF in observation group were significantly higher than those in control group (all P<0.05), while the levels of serum TIMP-1 and ES were significantly lower than those in control group (all P<0.05). CMT and IOP in observation group were significantly higher than those in control group (all P<0.05). The expression level of serum miR-126 in observation group was negatively correlated with serum VEGF, PDGF, CMT and IOP ( r=-0.275, -0.523, -0.302, -0.542, all P<0.05), and was positively correlated with TIMP-1 and ES ( r=0.460, 0.263, all P<0.05). Serum miR-9 expression level was positively correlated with serum VEGF, PDGF, CMT and IOP ( r=0.434, 0.438, 0.396, 0.307, all P<0.05), and was negatively correlated with TIMP-1 and ES ( r=-0.256, -0.310, all P<0.05). The area under curve (AUC) values of serum miR-126 and miR-9 in diagnosing wAMD were 0.713 and 0.847 respectively. Conclusions:The expression level of serum miR-126 is significantly decreased while the expression level of miR-9 is significantly increased in patients with wAMD. miR-126 is negatively correlated with VEGF and CMT, and miR-9 is positively correlated with VEGF and CMT, which may aggravate the disease by promoting the inflammatory response. The detection of expression levels of serum miR-126 and miR-9 is helpful to provide the reference basis for early diagnosis of wAMD and early prevention and treatment.
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<p><b>OBJECTIVE</b>To explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD).</p><p><b>METHODS</b>Genomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. The products were directly sequenced and compared with GenBank database to identify potential mutation. Bioinformatic analysis was carried out to predict the effect of mutation on proteins.</p><p><b>RESULTS</b>A heterozygous mutation (p.R124C) was found in exon 4 of the TGFBI gene in all patients from the pedigree but not among unaffected members. The mode of inheritance of corneal dystrophy in this pedigree was identified as autosomal dominant. Bioinformatics analysis predicted that the p.R124C mutation may be functionally deleterious. The phenotype of corneal dystrophy in the pedigree was determined to be LCD I type.</p><p><b>CONCLUSION</b>The p.R124C mutation of the TGFBI gene probably underlies the pathogenesis of LCD in this Chinese pedigree. Genetic testing can facilitate proper diagnosis of this type of corneal dystrophy.</p>
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Objective To compare the dose distribution between volumetric-modulated arc therapy ( VMAT ) and intensity-modulated radiotherapy ( IMRT ) in patients with brain metastases receiving hippocampus-sparing whole brain radiotherapy. Methods Forty-six patients with brain metastases admitted to our hospital from 2013 to 2016 were recruited in this study. After fusing the CT and MRI images, the hippocampus was delineated on the fusion images. The three-grade hippocampal avoidance regions were created by using a volumetric expansion of 3,5 and 10 mm surrounding the hippocampus. The planning target volume ( PTV) was calculated by subtracting the 5-mm expansion surrounding the hippocampus from the whole brain. The prescription dose was 30 Gy/10 fractions. The 7-field IMRT and single arc VMAT were designed for each case. The dose distribution of PTV,hippocampus and other organs at risk ( OARs) were evaluated in both plans. Results The PTV was statistically compared between VMAT and IMRT:V95:95. 90％ and 94. 97％( P=0. 000 );V90:98. 17％ and 97. 48％( P=0. 000 );CI:0. 825 and 0. 813 ( P=0. 013);HI:0. 277 and 0. 289(P=0. 025).The hippocampal dose was also compared between VMAT and IMRT:the Dmax of hippocampus was 1698. 9 cGy for VMAT and 1784. 9 cGy for IMRT (P=0. 002).TheDmean of hippocampus was 1183. 8 cGy for VMAT and 1112. 7 cGy for IMRT (P=0. 000).No statistical significance was observed between IMRT and VMAT in protecting the OARs except the chiasma opticum ( 3262. 6 cGy and 3529. 3 cGy,P=0. 000).The MU and treatment time of VMAT and IMRT were 651 and 2768( P=0. 000) ,and 188 s and 504 s ( P=0. 000) . Conclusions The dose distribution of PTV in VMAT is significantly better than that in IMRT. VMAT is advantageous in protecting the hippocampus than IMRT. VMAT can significantly shorten treatment time and MU and enhance the equipment utilization. Besides, VMAT can achieve the goal of protecting the hippocampus and meet the prescription dose requirement of PTV.
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<p><b>OBJECTIVE</b>To analyze the clinical features and TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy.</p><p><b>METHODS</b>Genomic DNA was extracted from 53 members including 9 patients from the family. The 17 exons and splice region of introns of the TGFBI gene were amplified by PCR and directly sequenced. All family members were subjected to ophthalmologic examination.</p><p><b>RESULTS</b>A heterozygous mutation (R124L) was found in exon 4 of the TGFBI gene among all patients from the family. The same mutation was not found among unaffected family members. The inheritance pattern of the family was identified as autosomal dominant, and the Reis-Bucklers corneal dystrophy in the family was diagnosed as the geographic type.</p><p><b>CONCLUSION</b>The R124L mutation of the TGFBI gene probably underlies the pathogenesis of Reis-Bucklers corneal dystrophy in this Chinese family. Molecular genetic approach is useful for the proper diagnosis of this type of corneal dystrophy.</p>