亚甲基四氢叶酸还原酶C677T多态性与非综合征性唇腭裂的关系

目的研究亚甲基四氢叶酸还原酶基因C677T多态性与非综合征性唇腭裂的关系。方法利用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）,在168例非综合征性唇腭裂患者和192名正常对照中,对MTHFR基因C677T单核苷酸多态性（SNP,rs1801133）进行检测。利用拟合优度卡方检验,分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用UNPHASED软件包分析多态性位点与非综合征性唇腭裂的相关性。结果MTHFRC677T多态性基因型频率分布符合Hardy-Weinberg平衡;MTHFR C677T等位基因分布在NSCL／P组与对照组之间有显著性差异（P〈0.05）,正常组中T等位基因的频率明显高于NSCL／P组。结论MTHFR C677T多态性位点在中国人群中与非综合征性唇腭裂形成的发生相关联。     

非综合征性唇腭裂与亚甲基四氢叶酸还原酶基因A1298C相关性的研究

目的 研究亚甲基四氢叶酸还原酶基因(methylenetetrahydrofolate reductase,MTHFR)A1298C多态性与中国华北人群非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的关系.方法 通过聚合酶链反应-限制性片段长度多态性,在158例NSCL/P患者和192名健康对照中,对MTHFR基因A1298C单核苷酸多态性(single nucleotide polymorphism,SNP)rs1801131进行检测.利用拟合优度卡方检验分析基因型分布频率是否符合Hardy-Weinberg平衡定律;应用Unphased软件分析等位基因频率与NSCL/P的相关性.结果 MTHFR基因A1298C多态性基因型频率分布符合Hardy-Weinberg平衡;等位基因和基因型频率在唇裂合并或不合并腭裂组和健康对照组之间差异无统计学意义;基因型分布单纯腭裂(AA 78%、AC+CC 22%)与健康对照组(AA 74%、AC+CC 26%)比较,差异有统计学意义(χ2＝4.256,P=0.039),AC+CC基因型频率健康对照组(26%)高于单纯腭裂组(22%)(OR=0.8,95%CI=0.381～1.683).结论 MTHFR A1298C多态性位点可能与中国人群非综合征性单纯腭裂的发生有关.

Abstract：

Objective To investigate the association between a polymorphism of methylenetetrahydrofolate reductase with Non-syndromic cleft lip with or without cleft palate(NSCL/P)in Chinese population. Methods The polymerase chain reaction (PCR)-based restriction fragment length polymorphism(RFLP)technique was used to detect a single nucleotide polymorphism(SNP), rs1801131, at the methylenetetrahydrofolate reductase(MTHFR)gene in both 158 patients with NSCL/P and 192 healthy individuals. The Hardy-Weinberg equilibrium for genotypic distributions was estimated by the goodness-of-fit test. The UNPHASED program was applied to perform the association analysis. Results The genotypic distribution of A1298C was not deviated from the Hardy-Weinberg equilibrium in both controls and patients. No association was found between cleft lip with or without palate(CL/P)and controls. There was significant difference of cleft palate only(CPO)and the healthy individuals(χ2＝4.256, P=0.039). The frequency of AC+CC genotype was higher in control group than that in CPO group(OR=0.8, 95%CI=0.381-1.683),26 among 100 healthy individuals carried AC+CC genetypes,which were carried by 22% of CPO patients. Conclusions The polymorphism of MTHFR A1298C may be involved in the occurrence of non-syndromic cleft palate only in Chinese population.     

MTR基因Rs1805087多态性与非综合征性唇腭裂的相关性研究

目的研究5-甲基四氢叶酸-高半胱氨酸甲基转移酶（5-methyltetrahydrofolate-homocysteine methyltransferase,MTR）SNPs位点Rs1805087多态性与非综合征性唇腭裂的关系。方法采用聚合酶链反应-限制性片段长度多态性方法,检测174例非综合征性唇腭裂患者和169例正常对照组的MTR基因Rs1805087的多态性。结果 MTR基因Rs1805087位点基因型频率分布符合Hardy-Weinberg平衡;MTR基因Rs1805087位点基因型及等位基因的分布在NSCL/P组与对照组之间均无统计学意义（P〉0.05）。结论结果未显示MTR基因Rs1805087多态性与非综合征性唇腭裂的发生有关。     

Robotic compared with open operations for cancers of the head and neck: a systematic review and meta-analysis

To compare the effectiveness and safety of robotic surgery with that of open operations for patients with cancers of the head and neck we made an electronic search of the CENTRAL, MEDLINE, EMBASE, CNKI, CBM, Opengray and Sciencepaper Online databases, and then made a manual search of specific online databases and the reference lists of relevant papers. Our most recent searches were made on 18 July 2018, and we included randomised controlled trials (RCT), case-control studies, cohort studies, and cross-sectional surveys in which robotic was compared with open surgery for cancer of the head and neck. Data from all the studies included were extracted by two independent workers. The risk ratio was chosen to measure dichotomous effects of treatment for prospective studies including RCT or cohort studies, while the odds ratio was chosen for case-control or cross-sectional studies. The weighted mean difference or standard mean difference was chosen to summarise continuous effects. A random-effects model was used for all data analyses. Thirteen studies were included: one RCT, nine cohort studies, and three cross-sectional studies. Robotic surgery was associated with fewer invaded resection margins, lower recurrence, less need for intraoperative tracheostomy, and less need and shorter duration of postoperative nasal feeding than open operations. Robotic surgery is a safe and feasible approach with remarkable superiority over open surgery for the treatment of cancers of the head and neck.