Replication Study Of Association Between The New Susceptibility Loci For Adolescent Idiopathic Scoliosis And Clinical Investigation Of Sequential Correction Technique In The Treatment Of Complex Spinal Deformities

Chapter ? Replication of Association between the New Susceptibility Loci for Adolescent Idiopathic Scoliosis in Chinese Han PopulationObjective:To investigate the association of the novel identified susceptible loci with adolescent idiopathic scoliosis(AIS)in Chinese Han population,and to better define the functional role of the genes related to the validated single-nucleotide polymorphisms(SNPs)in the development and progression of AIS.Methods: Rs141903557 ? rs11205303 ? rs12029076 ? rs1978060 ? rs2467146 ?rs11787412?rs188915802?rs658839?rs160335?rs482012?rs17011903?rs397948882?rs12149832?rs11341092 were genotyped in 1210 AIS female patients and 2500 controls.Paraspinal muscle samples were collected from 36 AIS patients and 36 agematched lumbar disc herniation(LDH)patients for the analysis of tissue expression.The differences of genotype and allele distributions between the patients and the controls were calculated using the Chi-square test.The Pearson correlation analysis was carried out to investigate the relation between the expression of the genes and the clinical characteristics of AIS.Results: Rs141903557(LOC101928978)? rs1978060(TBX1)? rs2467146(LINC02378/MIR3974)?rs658839(BCKDHB/FAM46A)and rs482012(NT5DC1)were significantly associated with the susceptibility of AIS in this study.Both expression of TBX1(0.003803±0.00095 vs.0.00499±0.00113,p < 0.001)and FAM46A(0.00146±0.00065 vs.0.00193±0.000638,p = 0.003)in the AIS patients was significantly lower compared with the controls.While there was no significant difference between the two groups regarding the expression of NT5DC1(0.00346±0.0009 vs 0.00381±0.00114,p = 0.155).There was a remarkable correlation between the curve magnitude and the TBX1 expression(r=-0.514,p=0.001).Conclusion: Rs141903557,rs1978060,rs2467146,rs658839 and rs482012 were associated with AIS in the Chinese Han population.Rs1978060 may be a functional variant regulating the expression of TBX1 which may play a functional role in the development or progression of AIS.Chapter ?(Section 1)Sequential correction technique in degenerative scoliosis with Type C coronal imbalance: a comparison with traditional 2-rod techniqueObjective.To compare the radiographic and clinical outcomes in degenerative scoliosis(DS)patients with Type C coronal imbalance undergoing sequential correction technique and traditional 2-rod technique during a minimum of 2 years follow-up.Methods.DS patients with Type C coronal imbalance undergoing posterior correction surgery from February 2014 to January 2018 were divided into SC group(sequential correction technique)and TC group(traditional 2-rod correction technique).Radiographic parameters including Cobb angle,coronal balance distance(CBD),global kyphosis(GK),thoracic kyphosis(TK),lumbar lordosis(LL),sagittal vertical axis(SVA),pelvic incidence(PI),pelvic tilt(PT)and sacral slope(SS)were assessed pre-and post-operatively.The Short Form 36 questionnaire was fulfilled to evaluate the quality of life.Results.A total of 34 patients were included including 14 in SC group and 20 in TC group.Significant post-operative improvement in Cobb angle of main curve,CBD,GK,TK,LL,SVA and PT were revealed in both groups(p<0.05).At post-operation,the coronal balance was Type A in 13 patients(92.9%)of SC group and 16 patients(80.0%)of TC group(P=0.298).In TC group,there was 1 patient with deteriorative coronal imbalance at immediate post-operation and coronal imbalance deteriorated from Type A to Type C in 2 patients during follow-up.The scores of physical functioning,rolephysical,bodily pain,vitality,social functioning,role-emotional and mental health were statistically improved at post-operation(P<0.05)in both groups,while patients with Type C coronal imbalance at the last follow-up were associated with relatively lower quality of life.There were no implant-related complications during follow-up in SC group while rod fracture was observed in 3 patients of TC group.Conclusions.Compared with traditional 2-rod technique,the sequential correction technique can simplify rod installation procedure,enhance internal instrumentation and reduce risk of implant failures.Sequential correction technique could be routinely recommended for DS patients with Type C coronal imbalance.Chapter ?(Section 2)Ponte Osteotomy Followed by Sequential Correction Technique with Satellite Rods for the Treatment of Severe Idiopathic Thoracic ScoliosisObjective.To compare the radiographic and clinical outcomes between sequential correction technique(SC)and traditional 2-rod correction technique(TC)in patients with severe thoracic idiopathic scoliosis(STIS)undergoing posterior-only correction surgery.Methods.This study reviewed a consecutive series of STIS patients undergoing posterior-only correction surgery between October 2013 and October 2017 with over 2-years follow-up.The radiographic parameters were assessed at preoperation,postoperation,and last follow-up.The radiographic parameters,operation time,blood loss,and complications were compared between two groups.Results.A total of 33 patients were enrolled into SC group while 21 patients into TC group.There was no significant difference in age,gender and deformity magnitude(93.6±7.8° vs.89.8±6.6°,p=0.070)at pre-operation between groups.The operation time was shorter in SC group than TC group(251.5±42.8min verse 275.4±39.8min,p=0.020),while both blood loss(1284.6±483.3 verse 1398.0±558.4 ml,p=0.432)and fused levels(13.1±2.8 verse 13.6±2.4,p=0.503)were similar between two groups.Compared with TC group,patients in SC group had higher correction rate(55.8±9.2% vs.45.7±8.8%,p=0.000),less coronal(1.1±0.81° vs.2.9±0.93°,p=0.000)and sagittal(1.5±0.96° vs.2.1±0.64°,p=0.015)correction loss at 2-years follow-up,and lower incidence of intraoperative pedicle screw pull-out(3.0% vs.23.8%,p=0.026).Conclusion.The sequential correction technique could significantly and practically reduce the difficulty of rod installation with better deformity correction outcomes than traditional 2-rod technique.The sequential correction technique was an effective alternative for patients with severe thoracic idiopathic scoliosis.Chapter ?(Section 3)The preliminary results of sequential correction technique in congenital cervicothoracic scoliosisObjective: To evaluate the radiographic and clinical outcomes of sequential correction technique in congenital cervicothoracic scoliosis,and to illustrate the advantage of this technique.Methods: Twelve patients(4 males and 8 females)with congenital cervicothoracic scoliosis applying sequential correction technique from January 2018 to March 2020 were reviewed,of whom the mean age was 8.1±2.8 years.The radiographic parameters for analysis included local scoliosis,T1 tilt,clavicle angle,neck tilt,and head shift.The SRS-22 questionnaire was evaluated at preoperation and the last follow-up.The paired t test was used for the statistical analysis.Results: The mean operation time was 212.2±28.9 min,and the average blood loss was 349.3±58.7ml.The mean post-operative follow-up period was 20.4±3.7 months.Local scoliosis was significantly corrected from 40.3±4.1° preoperatively to 9.4±1.7° postoperatively(p<0.001)and 9.6±1.9° at last follow-up with no significant correction loss(p=0.788).Significant improvement in T1 tilt,clavicle angle,neck tilt,and head shift was obtained at postoperation(p<0.05 for all).The scores of SRS-22 were significantly improved in appearance,mental,and total satisfaction domains at last follow-up(p<0.05).There was no implant-related complications during follow-up.Conclusion: The sequential correction technique could be well used in congenital cervicothoracic scoliosis,which can simplify the surgical procedure,maximize deformity correction,and reduce the incidence of implant-related complications.