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本文引用的文献

1
Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.RET和NRG1基因多态性对印度尼西亚先天性巨结肠症患者的影响。
J Pediatr Surg. 2014 Nov;49(11):1614-8. doi: 10.1016/j.jpedsurg.2014.04.011. Epub 2014 Aug 28.
2
Transanal pullthrough for Hirschsprung disease: matched case-control comparison of Soave and Swenson techniques.先天性巨结肠经肛门拖出术:Soave术式与Swenson术式的配对病例对照比较
J Pediatr Surg. 2014 May;49(5):774-6. doi: 10.1016/j.jpedsurg.2014.02.073. Epub 2014 Feb 22.
3
RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis.RET和PHOX2B基因多态性与先天性巨结肠症易感性:一项荟萃分析。
PLoS One. 2014 Mar 20;9(3):e90091. doi: 10.1371/journal.pone.0090091. eCollection 2014.
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Transanal, full-thickness, Swenson-like approach for Hirschsprung disease.经肛门全层、Swenson 样手术治疗先天性巨结肠。
J Pediatr Surg. 2013 Nov;48(11):2289-95. doi: 10.1016/j.jpedsurg.2013.03.002.
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Genetic risk score does not predict the outcome of obesity surgery.遗传风险评分不能预测肥胖症手术的结果。
Obes Surg. 2014 Jan;24(1):128-33. doi: 10.1007/s11695-013-1080-2.
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Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis.经肛门直肠内拖出术与经腹腔途径治疗先天性巨结肠症的比较:系统评价和荟萃分析。
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Comparative review of functional outcomes post surgery for Hirschsprung's disease utilizing the paediatric incontinence and constipation scoring system.利用小儿失禁和便秘评分系统对先天性巨结肠症术后功能结局的比较性综述。
Pediatr Surg Int. 2012 Nov;28(11):1071-8. doi: 10.1007/s00383-012-3170-y. Epub 2012 Sep 22.
8
Duhamel pull-through for Hirschsprung disease: a comparison of open and laparoscopic techniques.先天性巨结肠 Duhamel 拖出术:开放与腹腔镜技术的比较。
J Pediatr Surg. 2012 Feb;47(2):308-12. doi: 10.1016/j.jpedsurg.2011.11.025.
9
A map of human genome variation from population-scale sequencing.人类基因组变异的图谱来自于基于人群的测序。
Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.
10
Associations of markers in 11 obesity candidate genes with maximal weight loss and weight regain in the SOS bariatric surgery cases.11 个肥胖候选基因标志物与 SOS 减重手术病例最大减重和体重反弹的相关性。
Int J Obes (Lond). 2011 May;35(5):676-83. doi: 10.1038/ijo.2010.166. Epub 2010 Aug 24.

RET基因c.2307T>G多态性对印度尼西亚人群先天性巨结肠症后矢状入路神经切除术结局的影响。

Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population.

作者信息

Haryana Sophia Mubarika, Sadewa Ahmad Hamim

机构信息

1 Pediatric Surgery Division, Department of Surgery.

出版信息

Int Surg. 2014 Nov-Dec;99(6):802-6. doi: 10.9738/INTSURG-D-14-00082.1.

DOI:10.9738/INTSURG-D-14-00082.1
PMID:25437590
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4254243/
Abstract

We investigated the effect of RET c.2307T>G polymorphism on the outcomes of posterior sagittal neurectomy for Hirschsprung disease (PSNHD) procedure in Indonesia. Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of enteric ganglia along variable lengths of the intestine in neonates. The RET c.2307T>G polymorphism has been shown to be associated with HSCR. Many surgical techniques with some advantage and disadvantage were established for HSCR. We have conducted PSNHD in short-segment HSCR patients.Thirty-one nonsyndromic HSCR patients underwent PSNHD. The polymorphism was determined using PCR-RFLP in genomic DNA. The rate of enterocolitis and constipation outcomes following PSNHD were 6 (19%) and 4 (13%) patients, respectively. The RET c.2307T>G polymorphism did not influence either enterocolitis or constipation outcome following PSNHD at P value of 0.07 (OR = 0.28; 95% CI = 0.08-1.05) and 0.67 (OR = 0.58; 95% CI = 0.12-2.76), respectively. Our study suggested that RET c.2307T>G polymorphism may not affect outcomes of PSNHD procedure in Indonesia. Furthermore, a multicenter study with a larger sample size is necessary to clarify this result.

摘要

我们研究了RET基因c.2307T>G多态性对印度尼西亚先天性巨结肠症(HSCR)后矢状入路神经切除术(PSNHD)手术结局的影响。先天性巨结肠症(HSCR)是一种神经嵴病,其特征是新生儿肠道不同长度段缺乏肠神经节。RET基因c.2307T>G多态性已被证明与HSCR有关。针对HSCR建立了许多各有优缺点的手术技术。我们对短段型HSCR患者进行了PSNHD手术。31例非综合征性HSCR患者接受了PSNHD手术。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测基因组DNA中的多态性。PSNHD术后发生小肠结肠炎和便秘的患者分别为6例(19%)和4例(13%)。RET基因c.2307T>G多态性对PSNHD术后小肠结肠炎和便秘结局均无影响,P值分别为0.07(比值比[OR]=0.28;95%置信区间[CI]=0.08 - 1.05)和0.67(OR = 0.58;95% CI = 0.12 - 2.76)。我们的研究表明,RET基因c.2307T>G多态性可能不会影响印度尼西亚PSNHD手术的结局。此外,有必要进行一项更大样本量的多中心研究来阐明这一结果。