AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma(PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features.METHODS: The DNA ...AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma(PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features.METHODS: The DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL software.RESULTS: Two missense mutations, including A330 F caused by c.988 G>T&c.989 C>T, and R390H caused by c.1169 G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this patient.CONCLUSION: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.展开更多
AIM:To compare the efficacy between two different silicone hydrogel bandage contact lenses after transepithelial photorefractive keratectomy(T-PRK).METHODS:In this randomized controlled trial,a total of 89 patients(17...AIM:To compare the efficacy between two different silicone hydrogel bandage contact lenses after transepithelial photorefractive keratectomy(T-PRK).METHODS:In this randomized controlled trial,a total of 89 patients(178 eyes) who underwent T-PRK at the Qingdao Eye Hospital from October to December 2019 were selected.One random eye wore a Senofilcon A bandage contact lens after surgery,and the other eye a Balafilcon A bandage contact lens.Pain scores,uncorrected visual acuity(UCVA),spherical equivalent(SE),corneal epithelial healing status,epithelial thickness,bandage lenses deposits,lenses movement,and ocular surface conditions were measured and compared.RESULTS:There were no differences between the two groups in UCVA,SE,corneal epithelial healing status,corneal epithelial thickness,tear river heights and tear film rupture time at each follow-up visit.However,postoperative pain scores in the Senofilcon A group were significantly lower than those of the Balafilcon A group(F_(intergroups)=67.833,P<0.001;F_(time)=383.773,P<0.001;F_(interaction)=57.344,P<0.001).The duration of pain in eyes in the Senofilcon A group was shorter than that of the Balafilcon A group(t=-3.326,P=0.001).The surface deposition scores and movement scores of Senofilcon A bandage lenses on the first and fourth days after surgery were lower than those of Balafilcon A bandage lenses(Z=-5.385,-6.782,P<0.001;Z=-8.336,-8.906,P<0.001).CONCLUSION:Both Senofilcon A and Balafilcon A bandage lenses have good efficacy after T-PRK.Senofilcon A lenses are associated with less pain and more comfort compared to Balafilcon A.展开更多
基金Supported by “Clinical medical+X” Project from Department of Medicine of Qingdao University
文摘AIM: To identify the novel mutation alleles in the CYP1B1 gene of primary congenital glaucoma(PCG) patients at Shandong Province of China, and investigate their correlation with glaucomatous features.METHODS: The DNA from the peripheral blood of 13 congenital glaucoma patients and 50 ethnically matched healthy controls from the affiliated hospital of Qingdao University were extracted. The coding region of the CYP1B1 gene was amplified by PCR and direct DNA sequencing was performed. Disease causing-variants were analyzed by comparing the sequences and the structures of wild type and mutant CYP1B1 proteins by PyMOL software.RESULTS: Two missense mutations, including A330 F caused by c.988 G>T&c.989 C>T, and R390H caused by c.1169 G>A, were identified in one of the 13 PCG patients analyzed in our study. A330F mutation was observed to be novel in the Chinese Han population, which dramatically altered the protein structure of CYP1B1 gene, including the changes in the ligand-binding pocket. Furthermore, R390H mutation caused the changes in heme-protein binding site of this gene. In addition, the clinical phenotype displayed by PCG patient with these mutations was more pronounced than other PCG patients without these mutations. Multiple surgeries and combined drug treatment were not effective in reducing the elevated intraocular pressure in this patient.CONCLUSION: A novel A330F mutation is identified in the CYP1B1 gene of Chinese PCG patient. Moreover, in combination with other mutation R390H, this PCG patient shows significant difference in the CYP1B1 protein structure, which may specifically contribute to severe glaucomatous phenotype.
基金Supported by the Medical and Health Development Grant of Shandong Province,China (No.2017WS180)。
文摘AIM:To compare the efficacy between two different silicone hydrogel bandage contact lenses after transepithelial photorefractive keratectomy(T-PRK).METHODS:In this randomized controlled trial,a total of 89 patients(178 eyes) who underwent T-PRK at the Qingdao Eye Hospital from October to December 2019 were selected.One random eye wore a Senofilcon A bandage contact lens after surgery,and the other eye a Balafilcon A bandage contact lens.Pain scores,uncorrected visual acuity(UCVA),spherical equivalent(SE),corneal epithelial healing status,epithelial thickness,bandage lenses deposits,lenses movement,and ocular surface conditions were measured and compared.RESULTS:There were no differences between the two groups in UCVA,SE,corneal epithelial healing status,corneal epithelial thickness,tear river heights and tear film rupture time at each follow-up visit.However,postoperative pain scores in the Senofilcon A group were significantly lower than those of the Balafilcon A group(F_(intergroups)=67.833,P<0.001;F_(time)=383.773,P<0.001;F_(interaction)=57.344,P<0.001).The duration of pain in eyes in the Senofilcon A group was shorter than that of the Balafilcon A group(t=-3.326,P=0.001).The surface deposition scores and movement scores of Senofilcon A bandage lenses on the first and fourth days after surgery were lower than those of Balafilcon A bandage lenses(Z=-5.385,-6.782,P<0.001;Z=-8.336,-8.906,P<0.001).CONCLUSION:Both Senofilcon A and Balafilcon A bandage lenses have good efficacy after T-PRK.Senofilcon A lenses are associated with less pain and more comfort compared to Balafilcon A.
