DSCAM和CNTNAP2基因多态性与青少年特发性脊柱侧凸的相关性研究
发布时间：2018-04-02 16:46
本文选题：特发性脊柱侧凸 切入点：DSCAM和CNTNAP2 出处：《南京大学》2013年硕士论文
【摘要】：第一部分：DSCAM和CNTNAP2基因多态性与青少年特发性脊柱侧凸患者相关性研究目的：探讨轴突蛋白Ⅳ(contactin-associated protein 2, CNTNAP2)和唐氏综合征分子(Down syndrome cell adhesion molecule, DSCAM)基因与青少年特发性脊柱侧凸(adolescent idiopathic scoliosis, AIS)疾病易感性和严重程度的相关性。材料与方法：选取本研究中心2007年07月到2009年12月脊柱外科门诊或病房诊治的AIS患者648例,年龄10-18岁,平均年龄14.2岁,主弯Cobb角20°-86°,平均38.9°。正常对照组为2005年03月至2006年08月在门诊健康体检的青少年,年龄11-17岁,平均年龄13.9岁。由于本研究为验证性研究,因此,选取先前报道的两个SNPs (single nucleotide polymorphisms)位点(rs1177084,rs2222973)进行研究.通过运用聚合酶链限制性片段长度多态性(PCR-RFLP)技术对正常青少年和AIS患者的SNPrs1177084,rs2222973基因型进行检测分析。结果：在AIS患者组中,DSCAM基因rs2222973多态性位点的三个基因型TT,CC,CT分别占50.0%,9.9%,40.1%,正常对照组分别占46.9%,8.6%,44.5%,两组比较差异无统计学意义(p=0.280)。而CNTNAP2基因rs11770843在中国人群中无多态性,100例AIS患者和100例正常青少年均携带T/T基因型。另外,在AIS患者组中,多态性位点rs2222973不同基因型所对应最大Cobb角分别是：T/T,31.3°±10.1°；C/T,28.4°+9.8°；C/C,30.5°+13.6°,三者比较无统计学差异(p=0.178)。结论：汉族人群的DSCAM基因rs2222973位点及CNTNAP2基因rs11770843位点多态性与AIS的发生发展没有明显关系。第二部分：女性青少年特发性脊柱侧凸严重程度和弯型与SRS-22问卷评分的相关性分析目的：探讨青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS) Cobb角和弯型与SRS-22问卷各维度评分的相关性。方法：对2010年6月-2011年7月在我科就诊且填写SRS-22简体中文版问卷的272例未经任何治疗的女性AIS患者进行回顾性分析。根据冠状面Cobb角将所有患者分为小Cobb角(20°-39°)(A组)和大Cobb角(40°-75°)(B组)两组,并根据弯型特征将每组患者分为单胸弯、单胸腰弯/腰弯、双胸弯、胸腰双弯四个亚组。同一Cobb角组内不同弯型亚组间和不同Cobb角组间同一弯型患者的SRS-22问卷各维度评分差异均采用Kruskal-Wallis检验。结果：在A组中,单胸弯和单胸腰弯/腰弯患者的功能活动、自我形象、精神健康评分明显高于大Cobb角组的患者(P0.05);双胸弯患者的功能活动评分和总均分显著优于B组的患者(P0.05)。在A组中,单胸弯患者的功能活动评分显著高于单胸腰弯/腰弯和胸腰双弯患者(P0.05)；在自我形象评分方面,双胸弯患者明显低于单胸弯患者和单胸腰弯/腰弯患者(P0.05)。在B组中,胸腰双弯患者的疼痛评分明显低于单胸弯患者(P=0.04)；在自我形象维度方面,双胸弯患者的评分明显低于其它三个弯型患者(P0.05)。结论：在轻中度AIS中,Cobb角大小及弯型特征均对患者的SRS-22问卷评分造成一定程度的影响,其中双胸弯对患者的自我形象评分的影响尤为明显。第三部分：脊柱侧凸患者徒手克氏针与电钻驱动法胸椎弓根螺钉置入的精确性研究目的：评估和比较徒手法与电钻驱动法制备胸椎椎弓根钉道后螺钉置入的准确性与安全性是否存在差异?方法：选取2008年04月至2011年10月行胸椎侧凸矫形的脊柱侧凸患者248例,记录所有患者的性别、手术时年龄、术前主胸弯Cobb角和螺钉误置相关并发症。根据术中钉道制备方法,将所有病例分为徒手组和电钻组。根据术后CT平扫,比较不同胸椎节段、凹凸侧及两组间螺钉置入精确性的差异。根据螺钉穿破椎弓根内侧皮质、外侧或前外侧皮质和椎体前缘的距离(d)将其分为四级：Ⅰ级(d2mm),Ⅱ级(d：2.1-4.0mm),Ⅲ级(d：4.1-6.Omm),Ⅵ级(d6.0mm)。结果：徒手组130例,共置入螺钉1319枚；电钻组118例,共置钉1242枚。两组间术前平均Cobb角无显著性差异。电钻组共有221枚螺钉(17.8%)穿破皮质,徒手组232枚螺钉(17.6%)穿破皮质,两组间螺钉精确性无统计学差异(P=0.89)。无论在电钻组还是在徒手组,T5皮质穿破率最高,而T12最低；凹侧皮质穿破率明显高于凸侧(徒手组P=0.03,电钻组P=0.00),但两组间凸侧或凹侧皮质穿破率均无显著差异(凸侧P=0.78,凹侧P=0.67)。本组所有患者均未出现螺钉误置导致的神经血管等相关并发症。结论：电钻与徒手制备的椎弓根通道的螺钉的精确性无明显差异,且两种置钉方法均具有可靠的安全性。因此,外科医师可以根据自己的习惯选择合适的钉道制备方法。
[Abstract]:The first part: the DSCAM and CNTNAP2 gene polymorphisms with adolescent idiopathic scoliosis patients objective to study the correlation between spinal axons: To investigate protein 4 (contactin-associated protein 2, CNTNAP2) and Down syndrome (Down syndrome cell adhesion molecule molecule, DSCAM) gene with adolescent idiopathic scoliosis (adolescent idiopathic, scoliosis, AIS) correlation disease susceptibility and severity. Materials and methods: the research center in 2007 07 months to December 2009 648 AIS patients with spinal surgery clinic or ward in the diagnosis and treatment of patients, age 10-18 years old, the average age of 14.2 years, the main bending angle of 20 degrees Cobb degrees -86, an average of 38.9 degrees. The normal control group in 2005 03 to 2006 08 in healthy adolescents, age 11-17 years old, the average age of 13.9 years. Because of this study to verify the research, therefore, a total of two SNPs previously reported (single nucleo Tide polymorphisms) (rs1177084, rs2222973) were studied. By using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique of SNPrs1177084 and AIS in patients with normal adolescents, detection of rs2222973 genotype analysis. Results: in AIS group, three TT genotypes, DSCAM gene rs2222973 polymorphism CC CT, respectively 50%, 9.9%, 40.1%, normal control group accounted for 46.9%, 8.6%, 44.5%, two groups had no statistically significant difference (p=0.280). CNTNAP2 gene rs11770843 in China population without polymorphism, 100 AIS patients and 100 normal adolescents were carrying T/T genotype. In addition, in patients with AIS in the group of polymorphic loci of different genotypes of rs2222973 corresponding to the maximum Cobb angle were T/T, 31.3 degrees - 10.1 degrees; C/T, 28.4 degrees +9.8 degrees; C/C, 30.5 degrees +13.6, the three is no statistically significant difference (p=0.178). Conclusion: the Han nationality The occurrence and development of DSCAM rs2222973 gene and CNTNAP2 gene polymorphism of rs11770843 and AIS group had no obvious relationship. The second part: the correlation of female adolescent idiopathic scoliosis severity and bending type and SRS-22 questionnaire score analysis objective: To investigate adolescent idiopathic scoliosis (adolescent idiopathic, scoliosis, AIS) Cobb angle correlation score and bending type of SRS-22 and the various dimensions of the questionnaire. Methods: June 2010 -2011 year in July 272 cases in our department and fill out the questionnaire Chinese SRS-22 simplified version without any treatment of female patients with AIS were retrospectively analyzed. According to the coronal Cobb angle of all patients were divided into Cobb small angle (20 degrees -39) (A group) and Cobb angle (40 degrees -75) (B group) two groups, and according to the characteristics of each type of bending were divided into single thoracic, lumbar, thoracic and thoracolumbar double bend, double bend four sub groups. The same Cobb angle group The dimensions of the SRS-22 questionnaire in different groups and different bending angle Cobb between groups with a score between patients with type Kruskal-Wallis test was used. Results: in group A, single thoracic and lumbar function in patients with activities, self-image, mental health scores were significantly higher than those of large Cobb angle groups. Patients (P0.05); the functional activity of double thoracic patients score and total score was significantly higher than B group (P0.05). The patients in the A group, the functional activity of the thoracic patients were significantly higher than that of single lumbar and thoracolumbar double bend patients (P0.05); in the self image score, double breasted scoliosis patients was significantly lower than that of single thoracic scoliosis patients and single thoracolumbar / lumbar scoliosis patients (P0.05). In group B, patients with double curved pain score was significantly lower than that of patients with single thoracic curve (P=0.04); in the self image dimension, double thoracic patients were significantly lower than the other three patients (P0.05 type bending) . conclusion: in mild and moderate AIS, Cobb angle and the bending characteristics of the SRS-22 questionnaire score of patients have a certain effect, the effect of double thoracic curve in patients with self image score is particularly obvious. The third part: scoliosis patients using Kirschner wire and electric drive to study accurate method of thoracic pedicle root screw placement: To evaluate and compare the methods and preparation of driving electric drill and thoracic pedicle screw after the accuracy and safety of screw placement whether differences exist? Methods: from 2008 to October 2011 04 for thoracic scoliosis scoliosis in 248 cases, records of all patients with sex, age at the time of surgery, preoperative main thoracic Cobb angle and screw misplacement related complications. According to the preparation method of screw surgery, all patients were divided into group and group. According to the manual electric drill of postoperative CT scan, comparing different thoracic segments, and the convex side 涓ょ粍闂磋灪閽夌疆鍏ョ簿纭，
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