| Chapter 2(section 1)Pathogenic gene candidate from a congenital scoliosis pedigreeObjective To identify the pathogenic gene by whole-exon sequencing in a rare congenital scoliosis pedigreeMethods We collected the clinical data and peripheral blood samples of the proband and her sibling(Ⅲ-1,Ⅲ-2,Ⅲ-3),proband’s parent(Ⅱ-1,Ⅱ-2),proband’s cousin(Ⅲ>4,Ⅲ-5)and cousin’s parent(Ⅱ-3,Ⅱ-4).DNA samples were isolated from the peripheral blood.We perform the whole exon sequence using Illumina Hiseq series to identify the pathogenic gene.Three models were considered and was applied to analyze our candidates including(1)recessive model,(2)Compound heterozygous model and(3)De novo mutation model.Result Proband and her sibling(Ⅲ-1,Ⅲ-2,Ⅲ-3)were diagnosed as congenital scoliosis with vertebral segmentation defects.These three affected individuals exhibit identical and severe clinical phenotypes.According to our analysis we have identified 6 candidates,including recessive model:(1)DOCK5,(2)KRTAP5-7,(3)HRCT1;Compound heterozygous model:(4)PRIM2,(5)MUC3A,(6)SNAPC3.Conclusion We have identified 6 candidate including DOCK5,KRTAP5-7,HRCT1,PRIM2,MUC3A,SNAPC3 from these pedigree with congenital scoliosis with vertebral segmentation defects.Among these candidates,we speculate that DOCK5 may play an important role in pathogenesis of CS with vertebral segmentation defects.Chapter 3(section 1)Long fusion to the pelvis with S2-alar-iliac screws can induce changes in pelvic incidence in adult spinal deformity patientObjective To verify whether pelvic incidence(PI)would change in adult spinal deformity(ASD)patients who underwent long instrumentation using S2-alar-iliac(S2AI)screws and to identify factors associated with the change in PI.Methods We retrospectively reviewed all patients who underwent spinal surgery using S2AI screws between November 2014 and January 2017 at our institution.Patients aged 20 years or above with available radiographs were included.According to the change in PI,patients were divided into two groups,group C:PI variance reached 5 or more degrees postoperatively,group NC:PI changed less than 5 degrees.Results:A total of 47 patients(3 males,44 females;mean age,52.47±15.80 years)were included in this study.PI significantly decreased from 51.25°±14.80°to 40.43°±14.23°in group C(n=26),with a mean change of 11.520±6.17°(P<0.05),but changed from 47.000±13.18°to 46.570±13.71° in group NC without statistical significance.Intergroup analysis showed that change in PI,preoperative PI-LL,preoperative LL,preoperative SVA,and postoperative PT were significantly different between both groups.Correlation analysis showed that the change in PI and preoperative LL and PI were significantly associated.The formula provided by the regression analysis was API=-3.108-0.11PreLL+0.211PrePI.Conclusions:Our study showed that PI decreased in 55%of ASD patients after spinal surgery using S2AI screws.Greater preoperative PI-LL mismatch and PI,as well as lumbar kyphosis,were associated with postoperative change in PI.Chapter 3(section 2)The natural evolution of pelvic incidence in degenerative scoliosis patientsObjective The purpose of this study is to verify whether PI would change in degenerative scoliosis(DS)patients during the natural evolution and identify possible factors associated with the change in PI.Method Patients over age 50 who came to our clinic between January 2010 and January 2017 were retrospectively reviewed.Inclusion criteria include:Patients(1)who were diagnosed as degenerative scoliosis at last follow-up,(2)Follow-up period longer than two years.Patients with a prior history of spinal or pelvic surgery and nonambulatory patients were excluded from the study.A total of 15 DS patients with follow-up more than two years were included in this study.The following sagittal radiographic parameters were measured:PI,pelvic tilt(PT),sacral slope(SS),sagittal vertical axis(SVA),Lumbar lordosis(LL),T1 pelvic angle.Meanwhile,Changes in PI,PT,SS,LL’and SVA,were calculated by subtracting the initial values from the last visit values.Results In this study,15 DS patients(15 females;mean age,61.93±6.20 years)were ultimately included in our study with the minimum follow up of two years.Of these patients,the mean follow-up period was 37.47 ± 18.57 months,range from 24 to 96 months.PI significantly increased from 44.47°±5.96° initially to 52.07°± 7.42°at last follow-up,with a mean change of 7.60°±2.19°(P<0.05).Meanwhile,PT,SVA,TPA,were increased significantly while LL was decreased significantly at last follow-up indicating patients at last follow-up(P<0.05).In contrast,SS changed from 22.00 ±8.06 to 23.86 ± 8.67 without statistical significance(P=0.103)and PT/PI changed from 0.51 ± 0.14 to 0.54 ± 0.15 without statistical significance(P=0.236).The correlation analysis showed that the change in PT(P=0.08)and the change in TPA(P=0.012)were significantly associated with the increase in DS patient.Conclusion In conclusion,our study showed that PI significantly increased in DS patients during the natural evolution.The anterior malalignment and pelvic retroversion might destabilize the sacroiliac joint which may lead to an increase in PI.Chapter 4(section 1)Would use of S2-alar-iliac screws promote sacroiliac joint fusion and limit the improvement of health related quality of life?Objective This study was designed to evaluate wlicther there was sacroiliac joint fusion and health-related quality of life after pelvic fixation utilizing S2AI.Method We retrospectively review all patients who undervent placement of S2AI screws at our institution between January 2010 and July 2016.52 patients underwent spinal fusion with S2AI pelvic fixation who had complete radiographic data including Computed Tomography scan of sacroiliac joint were enrolled in this study.All patients have received CT scans preoperatively and at last follow-up.CT scans were reviewed to determine whether there was sacroiliac joint fusion.SF-36,ODI,VAS and LSDI were also collected at preoperative and at last follow-up to evaluate patients’improvement in quality of life.According to the previous study,we chose and applied five tests with high sensitivity and specificity to diagnose sacroiliac joint dysfunction.These tests were administered to all patient at the last follow-up.Three tests resulting positive was regarded as dysfunction.Results 52 patients were enrolled(female 45,male 7,mean age,48.13±18.20 years).The mean follow up period is 35.85±13.36 months.101 S2AI screws were used in this study,among these patients,49 patients were inserted bilaterally,3 patients were inserted unilaterally.There were no instances of osseous fusion across the sacroiliac joint on the last follow-up CT.All patients resulted negative in the physical exam.SF-36,ODI and VAS were improved at last follow up,SF-36 PCS(33.40±13.73 vs 66.78±15.70;P<0.001),SF-36 MCS(37.98 ± 12.17 vs 72.76 ± 14.10;P<0.001).ODI(48.31± 13.44 vs 18.69 ± 11.60;P<0.001),VAS(4.64±1.37 vs 1.36 ±1.01;P<0.001).Conclusion Patient utilizing S2AI screws improved in HRQoL without augmenting lumbar stiffness.During the follow-up period,sacroiliac joint remains normal function and no observation of osseous fusion across this jointChapter 4(section 2)Comparison of the clinical outcome between degenerative spinal deformity patient utilizing second sacral alar-iliac and iliac screwObjective This study was designed to compare the clinical outcome between degenerative spinal deformity patient utilizing S2AI and IS.Method We retrospectively review all patient who underwent pelvic fixation utilizing S2AI screws or IS screws.Inclusion criteria is as followed:(I)degenerative spinal deformity patient who underwent pelvic fixation utilizing S2AI or IS screws,(2)patients’ follow up period more than 12months,(3)radiographic data were collected preoperatively,postoperatively and at last follow up.(4)HRQoL questionnaire were collected from the patient including SF-36,ODI and VAS.Cobb’s angle,coronal balance distance(CBD),regional kyphosis(RK),sagittal vertical axis(SVA)were recorded.Results A total of 22 patients were recruit in this study.14 patients utilizing S2AI screw and 8 patients were utilized iliac screw.There were no significant difference in age,gender,follow up time between two groups.The Cobb’s angle,CBD,RK,SVA showed no significant difference between two groups preoperative,postoperative and at last follow up.SF-36,ODI,VAS showed no significant difference between two groups preoperative and at last follow up.Compared with baseline,the Cobb’s angle(44.4°±14.0°vs 20.2°±7.2°vs 18.3°±7.1°),C7PL-CSVL(25.3±16.0mm vs 10.3±5.7mm vs9.2±4.2mm),RK(33.0°(-12°,50°)vs-20°(-33°,8.75°)vs-19°(-29°,9°),SVA(31.5±34.4mm vs12.1±8.4mmvs10.9±7.2mm),SF36-PCS(39.8±14.3vs68.2±21.5),SF36-MCS(44.9±14.8vs73.9±19.9),ODI(37.7±16.9 vs 19.8±15.8),VAS(4.8±2.1 vs 1.8±0.9 were significantly improved at the last follow up in S2AI group(P<0.05).In IS group,compared with baseline,the Cobb’s angle(54.3°±18.3°vs 26.1°±13.2° vs 25.57°±18.25°),C7PL-CSVL(31.0±16.0mm vs 13.9±7.0mmvs12.4±6.6mm),RK(380±20.4°vs3,3°±16.9°vs 1.4°±14.0°),SVA(27.1 ±23.9mm vs 13.1 =7.5mm vs 13.6±6.0mm),SF36-PCS(29.7±7.1 vs 61.1±11.2),SF36-MCS(35.9±7.1 vs 64.0±11.1),ODI(48.6±13.4 vs 19.0± 10.7),VAS(4.86±1.8 vs 2.6±1.3)were also significantly improved at the last follow-up(P<0.05).Conclusion Spinopelvic fixation utilizing S2AI screw can provide similar correction rate to iliac screw and the sacroiliac joint penetration due to S2AI won’t affect the HRQoL in patient with degenerative deformity who utilized S2AI. |
