检索结果-南通市图书馆

Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma

International Journal of Ophthalmology(English edition) 2019年第4期12卷 607-614页

作者： Mohamed M.Khafagy Nadia El-Guendy marwa A tantawy Mohamed A.Eldaly Hala M.Elhilali Abdel Hady A.Abdel Wahab Ophthalmology Department Faculty of Medicine Cairo University Cancer Biology Department National Cancer Institute Cairo University Research Department Children's Cancer Hospital

AIM: To identify CYP1B1 gene mutations and evaluate their possible role as a prognostic factor for success rates in the surgical management of Egyptian congenital glaucoma ***: Totally 42 eyes of 29 primary congenital glaucoma patients were operated on with combined trabeculotomy/trabeculectomy with mitomycin-C and followed up at 1 d, 1 wk, 1, 6 and 12 mo postoperatively. Genomic DNA was extracted from peripheral blood leukocytes. Coding regions of CYP1B1 gene were amplified using 13 pairs of primers, screened for mutations using single-strand conformation polymorphism followed by sequencing of both strands. Efficacy of the operation was graded as either a success [maintaining intraocular pressure(IOP) less than 21 mm Hg with or without antiglaucoma medication], or a failure(IOP more than 21 mm Hg with topical antiglaucoma medications). RESULTS: Seven novel mutations out of a total of 15 different mutations were found in the CYP1B1 genes of 14 patients(48.2%). The presence of CYP1B1 gene mutations did not correlate with the failure of the surgery(P=0.156, odds ratio=3.611, 95%CI, 0.56 to 22.89); while the positive consanguinity strongly correlated with failure of the initial procedure(P=0.016, odds ratio=11.25, 95%CI, 1.57 to 80.30). However, the Kaplan-Meier survival analysis revealed a significantly lower time of IOP control in the subgroup with mutations in CYP1B1 versus the congenital primary glaucoma group without mutations(log rank test, P=0.015).CONCLUSION: Seven new CYP1B1 mutations are identified in Egyptian patients. Patients harboring confirmed mutations suffered from early failure of the initial surgery. CYP1B1 mutations could be considered as a prognostic factor for surgery in primary congenital glaucoma.

关键词： CYP1B1 mutations primary congenital glaucoma intraocular pressure trabeculotomy/trabeculectomy with mitomycin-C.

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Hepatoblastoma in Developing Countries;Eight Years of Single Centre Experience

引用

Journal of Cancer Therapy 2018年第10期9卷 793-806页

作者： Sayed Abdelahamid Reham Abdelaziz Khedr Madeeha El Wakeel Alaa Younes Gehad Ahmed Naglaa Elkinaai marwa tantawy Hanafy Ahmed Hafez Department of Pediatric Hematology/Oncology National Cancer Institute Cairo University CCHE Cairo Egypt Department of Radiodiagnosis National Cancer Institute Cairo University CCHE Cairo Egypt Department of Surgical Oncology National Cancer Institute Cairo University CCHE Cairo Egypt Department of Surgery Faculty of Medicine Helwan University Cairo Egypt Department of Surgical Pathology National Cancer Institute Cairo University Cairo Egypt Department of Clinical Research CCHE Cairo Egypt

Background and objectives: Although hepatoblastoma (HB) is a rare childhood tumor and constitutes only 0.9% of all pediatric cancers, there was an obvious improvement in risk stratification and prognosis over the last two decades. This study aimed to assess the outcome of HB patients treated in our center and to investigate the impact of different prognostic factors on the survival of these patients. Patients and methods: This was a retrospective study included newly diagnosed patients with HB presented to the Children Cancer Hospital Egypt (CCHE 57357), from July 2007 to June 2015. Patient’s data were analyzed for the clinical characteristics and survival outcome of the included patients. Results: One hundred twenty-four children were included during the study period with a median age of 14 months. The tumor was found occupying the entire liver in 25 patients (20%);while it was confined to one lobe in 80% of them, portal vein thrombosis was diagnosed in 10 patients, and there were 30 patients (24%) had metastatic disease at presentation. Only five patients (4%) underwent primary surgical excision, and all of them were grossly excised (stage I);77/119 (64.7%) experienced delayed surgery after two to six courses (median, four courses) of C5VD and the overall resection rate was 66%. There were 42 patients (35.3%) failed to do surgical excision either because they still had evident metastatic disease with poor chemotherapy response, or because their tumor remained unresectable after six courses of chemotherapy. The 3-year event-free and overall survivals for the whole studied patients were 45.7% (95% CI, 36.9% - 56.7%), and 66.7% (95% CI, 57.1% - 77.8%) respectively. The 3-year EFS and OS were significantly better in those who underwent surgical excision (68.63% and 80.74% respectively, P-value 0.001). Also, the survival rates were significantly affected by the presence of metastatic disease at presentation, tumor stage and initial risk grouping of the studied patients

关键词： Hepatoblastoma Risk Factors Survival

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：