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目的 :探讨临床收治的先天性肛门直肠畸形患儿在基因表达、胚胎发育、远期生活质量方面的特征及表现。方法 :选取先天性肛门直肠畸形患儿20例,均为我院2010年5月至2016年5月收治,年龄2d-3岁。9例参与随访的患者为我科30年前通过手术方案治疗的病发肛门直肠畸形病例。行基因表达、胚胎发育方面的试验,并调查远期生活质量。结果 :无畸形儿直肠末端Hoxd13基因m RNA的表达水平为(0.73±0.11),先天性无肛畸形患者直肠末端为(0.32±0.25),前者高于后者,有统计差异(P<0.05)。生活质量评分对照组(33.2±3.2)分,患者组为(29.5±4.3)分,有统计差异(P<0.05)。结论 :针对先天性肛门直肠畸形疾病,从胚胎发育、基因表达及随访所示的远期生活质量展开分析,需重视手术疗效,进行康复治疗,以促进生活质量提高。
Objective: To investigate the clinical features and manifestations of congenital anorectal malformations in children with gene expression, embryo development and long-term quality of life. Methods: 20 cases of children with congenital anorectal malformation were selected, all from May 2010 to May 2016 in our hospital, aged 2d-3 years. Nine patients who participated in the follow-up were cases of anorectal malformations that were treated by our surgical program 30 years ago. Line gene expression, embryonic development tests, and to investigate long-term quality of life. Results: The mRNA level of moxRNA in Hoxd13 gene was (0.73 ± 0.11) in rectum without rectum and (0.32 ± 0.25) in rectum with congenital absence of anal rectum. The former was higher than the latter (P <0.05) . The quality of life score was 33.2 ± 3.2 in the control group and 29.5 ± 4.3 in the patient group, with statistical difference (P <0.05). Conclusion: To analyze the long-term quality of life of embryogenesis, gene expression and follow-up for congenital anorectal malformations, we need to pay attention to the curative effect and rehabilitation treatment to improve the quality of life.