本文選題：特發(fā)性脊柱側(cè)凸　切入點：DSCAM和CNTNAP2　出處：《南京大學》2013年碩士論文

【摘要】：第一部分：DSCAM和CNTNAP2基因多態(tài)性與青少年特發(fā)性脊柱側(cè)凸患者相關(guān)性研究目的：探討軸突蛋白Ⅳ(contactin-associated protein 2, CNTNAP2)和唐氏綜合征分子(Down syndrome cell adhesion molecule, DSCAM)基因與青少年特發(fā)性脊柱側(cè)凸(adolescent idiopathic scoliosis, AIS)疾病易感性和嚴重程度的相關(guān)性。材料與方法：選取本研究中心2007年07月到2009年12月脊柱外科門診或病房診治的AIS患者648例,年齡10-18歲,平均年齡14.2歲,主彎Cobb角20°-86°,平均38.9°。正常對照組為2005年03月至2006年08月在門診健康體檢的青少年,年齡11-17歲,平均年齡13.9歲。由于本研究為驗證性研究,因此,選取先前報道的兩個SNPs (single nucleotide polymorphisms)位點(rs1177084,rs2222973)進行研究.通過運用聚合酶鏈限制性片段長度多態(tài)性(PCR-RFLP)技術(shù)對正常青少年和AIS患者的SNPrs1177084,rs2222973基因型進行檢測分析。結(jié)果：在AIS患者組中,DSCAM基因rs2222973多態(tài)性位點的三個基因型TT,CC,CT分別占50.0%,9.9%,40.1%,正常對照組分別占46.9%,8.6%,44.5%,兩組比較差異無統(tǒng)計學意義(p=0.280)。而CNTNAP2基因rs11770843在中國人群中無多態(tài)性,100例AIS患者和100例正常青少年均攜帶T/T基因型。另外,在AIS患者組中,多態(tài)性位點rs2222973不同基因型所對應最大Cobb角分別是：T/T,31.3°±10.1°；C/T,28.4°+9.8°；C/C,30.5°+13.6°,三者比較無統(tǒng)計學差異(p=0.178)。結(jié)論：漢族人群的DSCAM基因rs2222973位點及CNTNAP2基因rs11770843位點多態(tài)性與AIS的發(fā)生發(fā)展沒有明顯關(guān)系。第二部分：女性青少年特發(fā)性脊柱側(cè)凸嚴重程度和彎型與SRS-22問卷評分的相關(guān)性分析目的：探討青少年特發(fā)性脊柱側(cè)凸(adolescent idiopathic scoliosis,AIS) Cobb角和彎型與SRS-22問卷各維度評分的相關(guān)性。方法：對2010年6月-2011年7月在我科就診且填寫SRS-22簡體中文版問卷的272例未經(jīng)任何治療的女性AIS患者進行回顧性分析。根據(jù)冠狀面Cobb角將所有患者分為小Cobb角(20°-39°)(A組)和大Cobb角(40°-75°)(B組)兩組,并根據(jù)彎型特征將每組患者分為單胸彎、單胸腰彎/腰彎、雙胸彎、胸腰雙彎四個亞組。同一Cobb角組內(nèi)不同彎型亞組間和不同Cobb角組間同一彎型患者的SRS-22問卷各維度評分差異均采用Kruskal-Wallis檢驗。結(jié)果：在A組中,單胸彎和單胸腰彎/腰彎患者的功能活動、自我形象、精神健康評分明顯高于大Cobb角組的患者(P0.05);雙胸彎患者的功能活動評分和總均分顯著優(yōu)于B組的患者(P0.05)。在A組中,單胸彎患者的功能活動評分顯著高于單胸腰彎/腰彎和胸腰雙彎患者(P0.05)；在自我形象評分方面,雙胸彎患者明顯低于單胸彎患者和單胸腰彎/腰彎患者(P0.05)。在B組中,胸腰雙彎患者的疼痛評分明顯低于單胸彎患者(P=0.04)；在自我形象維度方面,雙胸彎患者的評分明顯低于其它三個彎型患者(P0.05)。結(jié)論：在輕中度AIS中,Cobb角大小及彎型特征均對患者的SRS-22問卷評分造成一定程度的影響,其中雙胸彎對患者的自我形象評分的影響尤為明顯。第三部分：脊柱側(cè)凸患者徒手克氏針與電鉆驅(qū)動法胸椎弓根螺釘置入的精確性研究目的：評估和比較徒手法與電鉆驅(qū)動法制備胸椎椎弓根釘?shù)篮舐葆斨萌氲臏蚀_性與安全性是否存在差異?方法：選取2008年04月至2011年10月行胸椎側(cè)凸矯形的脊柱側(cè)凸患者248例,記錄所有患者的性別、手術(shù)時年齡、術(shù)前主胸彎Cobb角和螺釘誤置相關(guān)并發(fā)癥。根據(jù)術(shù)中釘?shù)乐苽浞椒?將所有病例分為徒手組和電鉆組。根據(jù)術(shù)后CT平掃,比較不同胸椎節(jié)段、凹凸側(cè)及兩組間螺釘置入精確性的差異。根據(jù)螺釘穿破椎弓根內(nèi)側(cè)皮質(zhì)、外側(cè)或前外側(cè)皮質(zhì)和椎體前緣的距離(d)將其分為四級：Ⅰ級(d2mm),Ⅱ級(d：2.1-4.0mm),Ⅲ級(d：4.1-6.Omm),Ⅵ級(d6.0mm)。結(jié)果：徒手組130例,共置入螺釘1319枚；電鉆組118例,共置釘1242枚。兩組間術(shù)前平均Cobb角無顯著性差異。電鉆組共有221枚螺釘(17.8%)穿破皮質(zhì),徒手組232枚螺釘(17.6%)穿破皮質(zhì),兩組間螺釘精確性無統(tǒng)計學差異(P=0.89)。無論在電鉆組還是在徒手組,T5皮質(zhì)穿破率最高,而T12最低；凹側(cè)皮質(zhì)穿破率明顯高于凸側(cè)(徒手組P=0.03,電鉆組P=0.00),但兩組間凸側(cè)或凹側(cè)皮質(zhì)穿破率均無顯著差異(凸側(cè)P=0.78,凹側(cè)P=0.67)。本組所有患者均未出現(xiàn)螺釘誤置導致的神經(jīng)血管等相關(guān)并發(fā)癥。結(jié)論：電鉆與徒手制備的椎弓根通道的螺釘?shù)木_性無明顯差異,且兩種置釘方法均具有可靠的安全性。因此,外科醫(yī)師可以根據(jù)自己的習慣選擇合適的釘?shù)乐苽浞椒ā?br/>[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紜，

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