Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B,TPH1, and IGF1 in a Japanese population

Adolescent idiopathic scoliosis (AIS) is a spinal deformity most commonly arising in apparently healthy girls around puberty. AIS has a strong genetic predisposition. Several genetic associations between AIS and single nucleotide polymorphisms (SNPs) have been reported; common SNPs in the genes for matrilin 1 (MATN1), melatonin receptor 1B (MTNR1B), tryptophan hydroxylase 1 (TPH1), and insulin‐like growth factor 1 (IGF1) are reported to be associated with AIS in Chinese. However, these associations have not been replicated so far. To confirm the associations, we compared these SNPs with AIS predisposition and curve severity in a population of Japanese females consisting of 798 AIS patients and 1,239 controls. All the subjects were genotyped using the PCR‐based Invader assay. We found no association of any of the SNPs with AIS predisposition or curve severity. Considering the statistical power and sample size of the present study, we concluded that these SNPs are not associated with either AIS predisposition or curve severity in Japanese. © 2011 Orthopaedic Research Society Published by Wiley Periodicals, Inc. J Orthop Res 29: 1055–1058, 2011     

青少年特发性脊柱侧凸患者骨组织中雌激素受体的表达

目的:探讨青少年特发性脊柱侧凸(AIS)患者骨组织中雌激素受体的表达情况。方法:28例志愿者分为两组,其中AIS组患者18例,男3例,女15例,年龄12～18岁,平均(14.4±1.4)岁,Cobb角40°～125°,平均60.1°;先天性脊柱侧凸(CS)组患者10例,男6例,女4例,年龄11～19岁,平均(15.4±2.6)岁,Cobb角37°～120°,平均63.3°。术中取髂骨,用逆转录聚合酶链反应(RT-PCR)方法检测骨组织中雌激素受体α(ERα)和β(ERβ)的表达情况。结果:AIS组和CS组患者骨组织中ERα mRNA和ERβ mRNA的阳性表达率均无显著性差异(P>0.05);AIS组中ERα mRNA和ERβ mRNA表达阳性患者中的相对含量分别为1.24±0.08和1.07±0.10,CS组为1.24±0.09和1.08±0.10,两组比较无显著性差异(P>0.05);但两组患者ERβ mRNA的阳性表达率与其Cobb角大小呈明显负相关(AIS组r=-0.613,P=0.007;CS组r=-0.648,P=0.043)、与Risser分级无关,ERα mRNA的阳性表达率与Cobb角、Risser分级无关,AIS患者的ERα mRNA和ERβ mRNA的阳性表达率与其Lenke分型无关。结论:AIS患者骨组织中ERα mRNA和ERβ mRNA的表达可能不是引起AIS的主要原因,但ERβ mRNA的表达可能对骨生长的调控作用较大,值得进一步研究。     

青少年特发性脊柱侧凸支具治疗研究分析

[目的]探讨胸腰骶支具治疗青少年特发性脊柱侧凸的临床疗效,为开展青少年特发性脊柱侧凸的筛查和临床治疗提供参考依据。[方法]对2004年10月~2012年2月在云南部分地区筛查中确诊为青少年特发性脊柱侧凸的132例患者进行Lenke分型,并予胸腰骶支具治疗,比较治疗前后Cobb角。[结果]Lenke1型治疗前后Cobb角平均减小9°,差异具有统计学意义(P0.05),Lenke3型治疗前后胸弯Cobb角平均减小5.2°,胸腰弯Cobb角平均减小6.4°,差异均具有统计学意义(P0.05),Lenke5型治疗前后Cobb角平均减小12.7°,差异具有统计学意义(P0.05),Lenke6型治疗前后胸弯Cobb角平均减小2.0°,胸腰弯Cobb角平均减小6.8°,差异没有统计学意义(P0.05)。[结论]12~16岁是青少年特发性脊柱侧凸重点普查对象,胸腰骶支具对减缓或阻止Lenke1型、Lenke3型和Lenke5型畸形具有显著作用,而对Lenke6型没有明显效果,支具治疗对阻止或减缓病情发展不受年龄、性别和分型的影响。     

青少年特发性脊柱侧凸患者雌激素受体基因多态性与骨密度的关系

目的探讨青少年特发性脊柱侧凸患者雌激素受体基因多态性与骨密度的关系。方法取青少年特发性脊柱侧凸女性患者92例,年龄10～19岁,Cobb角25°～134°,应用聚合酶链反应限制性片段长度多态(PCRRFLPs)的方法分析雌激素受体基因型,同时用双能X线骨密度吸收仪分别对其腰椎(L24)和股骨近端(股骨颈、大转子、Wards三角)的骨密度进行测量。结果特发性脊柱侧凸患者雌激素受体基因型PvuⅡ多态性PP,Pp,pp型分别为19.6%,46.7%,33.7%,XbaⅠ多态性XX,Xx,xx型分别为22.8%,33.7%,43.5%;XX型的腰椎、股骨大转子和Wards三角的骨密度明显低于xx型(P<0.05),而PvuⅡ基因的各基因型与骨密度无关;联合分析PvuⅡ和XbaⅠ位点,PPXX基因型的腰椎、股骨大转子和Wards三角的骨密度明显低于Ppxx和ppxx型(P<0.05)。结论雌激素受体XbaⅠ基因多态性与特发性脊柱侧凸患者的骨密度有关,PPXX基因型的骨密度较低,有助于较早发现特发性脊柱侧凸的低骨量者。     

骨移植在青少年特发性脊柱侧凸后路矫形术的应用研究

[目的]通过不同植骨在青少年特发性脊柱侧凸后路矫形植骨融合术中的应用比较,探讨其临床应用效果.[方法]回顾性分析2000年～2005年行后路钉-棒系统矫形手术的71例青少年特发性脊柱侧凸患者,其中自体骨移植21例(A组),同种异体骨移植23例(B组),自体骨混合同种异体骨移植27例(C组),比较随访第3、9、15、36个月的融合率、Cobb's角丢失率及假关节发生率.[结果]A组平均融合节段7个,B组平均融合节段7.6个,C组平均融合节段8个.随访的第3个月,融合率、Cobb's角丢失率及假关节发牛率A组、B组、C组无显著性差异(P＞0.05).第9个月,A组融合率高于B、C两组,A组与B、C组有显著性差异(P＜0.05),B、C组间无显著性差异(P＞0.05),Cobb's角丢失率及假关节发生率A、B、C组无显著性差异(P＞0.05).第15、36个月,融合率、Cobb's角丢失率及假关节发牛率A、B、C组无显著性差异(P＞0.05).[结论]同种异体骨移植、自体骨混合同种异体骨移植与自体骨移植在青少年特发性脊柱侧凸后路矫形手术中对维持矫形效果可取得相近的近远期临床效果.     

Lenke1BN型青少年特发性脊柱侧凸后路三维矫形有限元模拟研究

[目的]利用建立的Lenke1BN型青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)三维有限元模型,模拟后路三维矫形手术,并探讨选择不同下固定椎对矫形效果的影响.[方法]应用建立的Lenke1BN型AIS有限元模型,模拟后路全椎弓根螺钉固定三维矫形手术.具体约束加载如下:约束骶骨整体水平固定,参照文献在T1～L5各椎节分别施加模拟自身重力和肌肉因素的向下载荷,在固定节段凹侧模拟植入"椎弓根螺钉",并放入"预弯"矫形钛棒,在棒末端施加向凹侧的旋转力矩,使棒向凹侧旋转90°,模拟旋棒矫形;旋棒同时在顶椎区(T7～10)固定螺钉施加10 Nm的扭矩,模拟椎体直接去旋转矫形.上固定椎选择T4(上端椎+2),下固定椎分别选择T12(中立椎)、L1(稳定椎)和L2(稳定椎+1),比较三种固定方案的矫形效果.[结果]顺利完成加载模拟矫形,选择T12(中立椎)、L1(稳定椎)和L2(稳定椎+1)作为下固定椎模拟矫形后,上胸弯、主胸弯和腰分别矫正为:7.1°、7.4°、9.2°,6.4°、6.8°、8.3°和6.5°、7.2°、8.6°;矢状面胸椎后凸(T5～12)分别为21.3°、20.7°和20.5°;三种矫形方案,矫形效果无显著差异.[结论]首次通过有限元模拟研究表明:对于中度Lenke1BN型AIS,选择性融合主胸弯可获得满意的腰弯自发矫正;应用全椎弓根螺钉固定结合顶椎区椎体去旋转技术,可将下固定椎从稳定椎上移至中立椎,减少远端融合节段.     

The association of disproportionate skeletal growth and abnormal radius dimension ratio with curve severity in adolescent idiopathic scoliosis

Abnormal anthropometric measurements during the peripubertal growth spurt have been documented in adolescent idiopathic scoliosis (AIS). Magnetic resonance (MR) imaging studies of the spine have suggested a disproportionate endochondral and membranous ossification in AIS. The present study aimed at investigating whether disproportional ossification and skeletal growth occurred in the peripheral bone of AIS patients using the radius as the target bone. Skeletally mature AIS girls with different severity (n = 290) and age-matched control healthy girls (n = 80) were recruited. The anthropometric parameters were recorded. The midshaft of non-dominant radius was scanned with peripheral quantitative computed tomography (pQCT) and the radius diameter was calculated from the cross-sectional area. Radius dimension ratio was derived from the ratio of radius diameter to radius length. The anthropometric parameters were compared between AIS and control with adjustment for age. The radius dimension ratio was further correlated with curve severity in AIS girls using Pearson’s correlation test. The analysis showed that the arm span and radius length were slightly longer in AIS girls. The BMI of AIS girls was significantly lower than the controls. The radius dimension ratio in severe AIS girls was significantly lower than the controls and the ratio of AIS girls correlated with the curve severity (r = −0.120; p = 0.039). The abnormal radius dimension ratio supported the presence of systemic growth abnormalities in AIS. Disproportional endochondral-membranous ossification could explain for the observation. The observation of the association of radius dimension ratio with curve severity provides an important potentially clinically measurable parameter for further longitudinal studies on the prognostication of curve progression in AIS.     

The association between arterial blood supply to the anterior chest and juxta-apical thorax-asymmetry-associated right thoracic female adolescent idiopathic scoliosis

This cross-sectional study was carried out to investigate the role of arterial blood supply to the anterior chest wall in the pathogenesis of idiopathic scoliosis in adolescent females. Previous investigations have postulated that there is some asymmetry of the breasts in female adolescents with thoracic scoliosis that may be linked with anatomic and functional asymmetry of the internal mammary (IMA) artery that is the main supplier to the mammary gland. For this reason the present study investigated several anatomic and hemodynamic flow parameters of the IMA with color Doppler ultrasonography (CDU). Twenty female adolescents with right convex thoracic scoliosis were examined with roentgenograms to measure scoliosis curve, vertebral rotation, and concave and convex rib-vertebra angle at three vertebrae (apical, and one level above and one below the apical vertebra). Sixteen comparable nonscoliotic females were used as controls. CDU measured the IMA lumen diameter, its cross-sectional area, time average mean flow, and flow volume per minute. In scoliotics the obtained roentgenographic and ultrasonographic parameters were compared with each other to disclose any relationship. The reliability of CDU was high and the intraobserver variability low (ANOVA, P=0.92–0.94). There was no statistically significant difference in the ultrasonographic parameters of the IMA between right and left side in each individual or between scoliotics and controls. In scoliotics significant (P<0.05–0.01) correlations were shown between anatomic and hemodynamic parameters of internal mammary artery and juxta-apical convex and concave rib-vertebra angle. This study showed that the blood supply to the anterior chest wall in female adolescent scoliotics suffering from right-convex thoracic scoliosis is significantly correlated with juxta-apical convex and concave rib-vertebra angles. Thus, although this study found no correlation between scoliosis characteristics and anterior wall blood supply, it theoretically supports the hypothesis of a possible correlation between juxta-apical thorax asymmetry and anterior chest-wall blood supply in idiopathic scoliosis.

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Possible rôle de la vascularisation artérielle dans l'étiologie des scolioses

Résumé Cette étude a eu lieu afin d'évaluer le rôle de la circulation pariétale thoracique antérieure sur le développement de la scoliose idiopathique chez les jeunes filles. Des investigations précédentes ont fait penser que le disproportion des seins chez les jeunes filles ayant une scoliose dorsale (thoracique) idiopathique pouvait être en relation avec une disproportion anatomique et fonctionnelle de l'artère mammaire interne. Cette artère assure l'alimentation artérielle prépondérante de la glande mammaire. C'est pour cette raison que cette étude recherche les divers flux, paramètres anatomiques et fonctionnels de l'artère mammaire interne à l'aide de l'ultra-sonographie Doppler en couleur (U.D.C.). Vingt jeunes filles ayant une scoliose thoracique dextro-convexe ont été examinées par radiographie afin de mesurer la courbure, la torsion et aussi l'angle entre la vertèbre thoracique et la côte (rib-vertebra-angle RVA) au niveau de trois vertèbres, au niveau de la vertèbre sommet, le niveau supérieur et aussi le niveau inférieur de la vertèbre sommet. Seize jeunes filles comparables sans scoliose ont été choisies comme groupe témoin. L'artère mammaire interne a été examinée par U.D.C. non seulement pour le groupe avec scoliose mais aussi pour le groupe témoin. Les mesures ont concerné le diamètre du tronc artériel, la surface de l'artère, le temps moyen du flux et le volume du flux par minute. Les mesures radiographiques et ultrasonographiques qui ont été obtenues parmi le groupe de scoliose ont été comparées à celle du groupe témoin. La crédibilité de l'U.D.C.. a été grande et la variabilité intra-observateur petite.(ANOVA P=0.92–0.94). Il n'y avait pas de différence statistique importante entre les deux côtés, gauche et droite, aux mesures des paramètres ultasonographiques de l'artère mammaire interne pour chaque individu et parmi les deux groupes d'étude. Cette étude a démontré que l'alimentation artérielle de la paroi thoracique antérieure des jeunes filles du groupe de scoliose est remarquablement en relation avec l'angle entre la vertèbre et la côte du coté droit et gauche au niveau supérieur de la vertèbre sommet. Par conséquent, bien que cette étude n'ait trouvé aucune corrélation entre les paramètres de scoliose mesurés et l'alimentation artérielle de la paroi thoracique antérieure, elle supporte l'hypothèse d'une relation possible entre l'alimentation artérielle de la paroi thoracique et l'asymétrie du thorax au dessus de la vertèbre sommet dans la scoliose idiopathique.

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CALM2基因多态性与青少年特发性脊柱侧凸遗传易感性的关联性研究

目的探讨钙调蛋白2基因（CALM2基因）与青少年特发性脊柱侧凸遗传易感性的相关性。方法采集北京协和医院骨科确诊的汉族青少年特发性脊柱侧凸患者107例,对照组107例,病例组按照PUMC分型进行分组。采外周血试剂盒提取DNA。根据国际人类基因组单倍体型图计划提供的基因型数据,选取CALM2基因的SNPs位点,应用VeraCode GoldenGate Genotyping Assay基因芯片进行SNPs基因型鉴定。用关联分析法探索CALM2基因与患者发病及临床表型之间的关系。结果 CALM2的rs10153674等位基因在病例组和对照组中的分布频率统计学上存在显著差异（P=0.003）,rs10153674位点等位基因G与AIS的易感性升高有关。结合PUMC分型,rs10153674和rs1027478基因型在PUMCI型和对照组中的分布频率统计学上存在显著差异（P值分别为0.038,0.006）,rs10153674基因型G/G、rs1027478基因型A/G与PUMCI型的发生有关。结论 CALM2基因遗传变异可能与青少年特发性脊柱侧凸发生相关,有可能是影响AIS易感性的重要因素。PUMCI型AIS的发生可能与rs10153674和rs1027478基因型多态性有关。     

带气囊色努矫形器治疗青少年特发性脊柱侧弯

目的观察带气囊色努矫形器治疗中度青少年特发性脊柱侧弯(AIS)患者的临床疗效。方法将2012-10-2013-06期间收集的30例中度AIS患者随机分成两组。治疗组15例,采用带气囊的色努矫形器治疗;对照组15例,采用不带气囊的色努矫形器治疗。比较两组患者治疗前后主弯的侧弯度数(Cobb angle)和顶椎椎体旋转(AVR)等级,依照2005年SRS年会统一的矫形器治疗脊柱侧弯的有效性标准评价其临床疗效[1]。结果在主弯角度及顶椎椎体旋转度等级改善方面,治疗组优于对照组,且差异有统计学意义(P0.05);在有效性方面,虽然治疗组优于对照组,但两组数据差异无统计学意义(P0.05)。结论与普通色努矫形器相比,采用带气囊的色努矫形器治疗中度AIS可能会更有效的抗脊柱侧弯及抗椎体旋转。     

Discrepancy between radiographic shoulder balance and cosmetic shoulder balance in adolescent idiopathic scoliosis patients with double thoracic curve

Shoulder balance is one of the key components to the body deformity in adolescent idiopathic scoliosis (AIS) patients with double thoracic curve and shoulder cosmesis plays an important role in patients’ satisfaction of surgical outcomes. Up to now, only radiographic parameters were used to evaluate the shoulder balance in literatures; no corresponding cosmetic parameters have been developed to evaluate the cosmetic shoulder balance. Meanwhile, we often confronted that perfect radiographic shoulder balance was achieved, but the patients complained about the residual cosmetic deformity. This phenomenon implied that discrepancy may exist between radiographic shoulder balance and cosmetic shoulder balance. The present study was carried out to investigate the correlation between radiographic and clinical cosmetic shoulder balance in AIS patients with double thoracic curve. Thirty-four AIS patients were recruited for this study. All the patients had a double thoracic curve. Six cosmetic parameters––inner shoulder height (SHi), outer shoulder height (SHo), shoulder area index 1 (SAI1), shoulder area index 2 (SAI2), shoulder angle (α1) and axilla angle (α2) were developed and measured on the standing photographs. Also, seven radiographic parameters––T1 tilting (T1), first rib angle (FRA), clavicle angle (CA), coracoid process height (CPH), clavicle-rib cage intersection (CRCI), first rib–clavicle height (FRCH), trapezius length (TL) were measured on the standing posterior–anterior radiographs. Correlation analysis was made between cosmetic parameters and radiographic parameters. SHi was found to be significantly correlated with T1, FRA, CA, CPH, CRCI (P < 0.05), among which FRA had the highest correlation coefficient. SHo was found to be significantly correlated with T1, FRA, CA, CPH, CRCI, FRCH (P < 0.05), among which CRCI had the highest correlation coefficient. However, none of the correlation coefficient was greater than 0.8. The correlation coefficients between radiographic parameters and SAI1, SAI2, α1, α2 were also below 0.8 that were similar with SH. The results indicated that radiographic parameters could only partially reflect the shoulder cosmetic appearances. However, none of the existing parameters can accurately reflect the shoulder cosmetic appearance. As cosmesis is critical important to patients’ satisfaction, spine surgeons should pay more attention to the cosmetic shoulder balance rather than radiographic shoulder balance.     

Comparison of somatosensory evoked potentials between adolescent idiopathic scoliosis and congenital scoliosis without neural axis abnormalities

Background contextAbnormal somatosensory evoked potentials (SEPs) have been documented in patients with adolescent idiopathic scoliosis (AIS) with different cure severity. However, few studies investigated whether abnormal SEPs were the cause or effect of idiopathic scoliosis.PurposeThe purpose of this study was to investigate the significance of abnormal SEPs in patients with AIS, and to explore its effect on the etiopathogenesis of AIS.Study design/SettingThis study evaluated SEPs in patients with AIS and congenital scoliosis (CS) with similar curve pattern and severity both in coronal and sagittal planes.Patient sampleFemale patients with AIS and CS in our spine surgery center from 2000 to 2009 were recruited for this study.Outcome measuresRate of abnormal SEPs.MethodsPosterior tibial nerve SEPs (PTN-SEPs) were performed on female patients with AIS and CS. The inclusion criteria were patients with AIS with a Lenke type 1 curve and patients with CS with right thoracic curve (apex between T5 and T12) and normal sagittal profile (kyphosis less than 50° measured from T2 to T12). All patients were evaluated with total spine magnetic resonance imaging, and those with neural axis abnormalities were excluded. The patients with neurological deficits on detailed physical examination were also excluded. Absence of SEPs waveforms or prolongation of peak latency or asymmetrical peak latency were defined as pathological change. The incidence of pathological SEPs and clinical characteristics were compared between patients with AIS and patients with CS.ResultsForty-six patients with AIS and 33 patients with CS were included in this study. There was no significant difference in coronal and sagittal Cobb angle between the two groups. The rate of abnormal SEPs was 32.6% (15/46) and 12.1% (4/33) in AIS and CS groups, respectively, and the difference was statistically significant (p<.05).ConclusionSomatosensory pathway dysfunction could be found in both AIS and CS without neural axis abnormalities, and the patients with AIS tended to have higher rates of somatosensory disorders than patients with CS with similar scoliosis curve, which indicates that both scoliosis curve and primary etiopathogenic factor contribute to the sensory deficit in patients with AIS.     

Evaluation of postoperative change in lung volume in adolescent idiopathic scoliosis: Measured by computed tomography

Background:

Change in total lung volume after surgical correction in adolescent idiopathic scoliosis (AIS), measured by computed tomography (CT), has not been studied previously. The primary objective of this study was to measure the change in lung volume between pre and postoperative AIS using low-dose CT and secondary objective was to investigate its relationship to postoperative pulmonary complications.

Materials and Methods:

55 AIS patients underwent surgery for correction and fusion using a posterior only approach and pedicle screws. Pre and postoperative lung volumes were measured using a 3-dimensional (3D) whole spine CT (low dose protocol: Tube current, 60 mA; tube voltage 120 kV). Postoperative low dose CT was undertaken at 4 weeks after operation to evaluate the acute changes of postoperative lung volumes and pulmonary complications. The software that was used recognizes the “air density shade” of the lung and the volume of every section of the lung. The software then automatically calculates total lung volume by summation of all section volumes. The relationships between postoperative pulmonary complications and changes in lung volume on low dose CT as well as preoperative forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV₁) were calculated using logistic regression analysis.

Results:

There was a decrease of 12% ± 23.2% in total lung volume postoperatively on 3D low dose CT (P < 0.001). Thirteen patients had increased lung volume while 42 had decreased lung volume postoperatively. Pulmonary complications were treated without severe sequale. Lung volume increased by 19.65% ± 19.84% in 13 patients and decreased by 21.85% ± 13.32% in 42 patients (P = 0.647). Lung volume was increased in patients whose preoperative lung volume, FEV₁ and FVC were lower than in patients whose values were higher (r = −0.273, −0.291 and − 0.348; P = 0.044, 0.045 and 0.015, respectively). Postoperative lung volume was also increased when intraoperative fluid administration was larger and operative time was longer (r = 0.354, 0.417 and P = 0.008, 0.002, respectively). There was a statistically significant negative correlation in the change of lung volume in female patients when compared with male patients (r = −0.294, P = 0.03).

Conclusion:

Patients with AIS who have preoperative reduced lung volumes or lung functions can achieve further increased lung volume after surgical correction. Pulmonary complications during perioperative period were mostly treated with proper management without severe sequale. Therefore, although surgery for AIS is considered to be a high risk procedure, we can recommend to correct spine deformity in patients with severe AIS in order to improve lung function and long term prognosis.     

易感基因CELSR2与汉族青少年特发性脊柱侧凸的相关性研究

目的 :在中国汉族人群中验证易感基因CELSR2与青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)发病的相关性。方法:利用等位基因特异性多重连接酶检测反应在1794例AIS患者和1040例正常对照人群中对既往报道的CELSR2基因的易感位点rs141489111、rs6698843和rs2281894进行基因分型。同时在本中心全基因组数据库中分析CELSR2基因其他单核苷酸多态性位点(SNP)的基因分型信息。术中收集45例AIS患者(AIS组)和10例年龄匹配的脊柱外伤患者(对照组)的椎旁肌,比较两组椎旁肌中基因表达水平的差异。利用卡方检验分析组间SNP位点最小等位基因频率差异,采用T检验对组间的基因表达水平进行统计分析。结果:1794例AIS患者和1040例正常对照人群中,rs141489111位点未检测到突变,所有研究对象基因型均为GG。SNP位点rs6698843和rs2281894的基因型及等位基因频率在AIS和正常对照人群间未见显著性差异(P0.05)。GWAS数据库显示其他7个位于CELSR2基因上的SNP位点与AIS亦无显著相关性(P0.05)。CELSR2基因在AIS组和对照组椎旁肌的表达水平无显著性差异(P0.05)。结论:既往报道的易感基因CELSR2上的突变位点和多态性位点均未在中国汉族人群中得到验证,AIS患者椎旁肌组织中CELSR2表达未见明显异常。CELSR2可能与汉族AIS的发生无关。     

青少年特发性脊柱侧凸患者脊柱前后柱骨骺软骨的组织形态学对比研究

目的：探讨青少年特发性脊柱侧凸（adolescentid iopathic scoliosis，AIS）患者脊柱前后柱软骨组织学和软骨细胞的增殖与凋亡有无差异及其对脊柱侧凸发生、进展的影响。方法：26例11～16岁AIS患者随机分为2组．A组12例行前路松解术或前路矫形内固定术；B组14例行后路矫形内固定术。A组取胸弯上端椎、顶椎和下端椎椎体生长板，B组取下关节突软骨．进行组织学观察及免疫组织化学测定其软骨细胞的细胞增殖核抗原（proliferation cell nuclear antigen，PCNA）指数和聚腺苷二磷酸-核糖聚合酶（poly ADP-ribose polymerase，PARP）指数。采用组织学分级作为生长潜能的指标，PCNA指数和PARP指数分别代表细胞增殖指数和凋亡指数作为软骨内成骨活跃度的指标。结果：A组AIS患者前柱椎体生长板组织学分级、增殖-肥大层软骨细胞的增殖指数（PCNA）和凋亡指数（PARP）均明显高于B组AIS患者后柱下关节突软骨．且有统计学差异（P〈0．05）。结论：相同年龄段AIS患者脊柱前、后柱生长潜能和软骨内成骨活跃程度存在差异．可能导致前柱生长过快、后柱生长缓慢，从而可能对脊柱侧凸的发生和进展发挥重要作用。     

先天性脊柱侧凸与青少年特发性脊柱侧凸矫形术中神经电生理监测对比分析

目的:对比分析先天性脊柱侧凸(congenital scoliosis,CS)和青少年特发性脊柱侧凸(adolescence idio-pathic scoliosis,AIS)患者脊柱后路矫形术中神经电生理监测(intraoperative neurophysiological monitoring,IONM)的结果...     

Runx2在青少年特发性脊柱侧凸患者骨髓间质干细胞中的表达及意义

目的：从骨髓间质干细胞（MSCs）水平探讨青少年特发性脊柱侧凸（AIS）发病的机制。方法：40例12～18岁志愿者，AIS患者20例，先天性脊柱侧凸（CS）患者10例，正常对照组10例。分别从髂前上棘处穿刺抽取10ml骨髓，肝素抗凝。采用密度梯度离心法分离MSCs，体外培养并传至P3代时行表型鉴定，采用RT-PCR法检测3组MSCs中核心结合因子α1（Runx2）mRNA的表达强度。结果：分离所得单个核细胞传至P3代经流式细胞仪鉴定表型与MSCs表面标记相符。AIS组Runx2的mRNA表达强度与CS组及正常对照组相比有显著统计学差异（P〈0．01），CS组与正常对照组相比无统计学差异（P〉0．05）。结论：转录因子Runx2在MSCs水平表达强度的异常可能与AIS发病有关。     

汉族人群白介素17受体C基因单核苷酸多态性与青少年特发性脊柱侧凸的相关性

【摘要】　目的：探讨白介素17受体C（IL-17RC）基因单核苷酸多态性与中国汉族人群青少年特发性脊柱侧凸（adolescent idiopathic scoliosis,AIS）易感性之间的相关性。方法：收集529例AIS女性患者及512例正常同龄女性青少年的静脉血标本,采用聚合酶链反应－限制性片段长度多态性（PCR-RFLP）方法鉴定和统计两组人群IL-17RC基因rs708567和rs279545多态性位点的基因型及等位基因分布频率;比较两组间不同多态性位点各基因型及等位基因分布频率的差异。结果：研究Power值（81%）大于80%,AIS患者组及正常对照组各多态性位点的基因型分布均符合Hardy-Weinberg遗传平衡定律。AIS组rs708567多态性位点GG基因型和G等位基因的分布频率显著高于对照组GG基因型（90.17% vs. 85.55%,P=0.023）和G等位基因（95.1% vs. 92.8%,P=0.028）的分布频率;携带GG基因型青少年中AIS的发病率约为携带AG基因型青少年的1.5倍（OR值=1.55;95% CI:1.45~3.11）。rs279545多态性位点各基因型及等位基因的分布频率在两组间均无统计学差异。结论：中国汉族人群中IL-17RC基因单核苷酸多态性与AIS的发生相关。     

Reproducibility and reliability analysis of the Luk Distal Radius and Ulna Classification for European patients with adolescent idiopathic scoliosis

PurposeCurrent clinical and radiological methods of predicting a patient’s growth potential are limited in terms of practicality, accuracy and known to differ in different races. This information influences optimal timing of bracing and surgical intervention in adolescent idiopathic scoliosis (AIS). The Luk classification was developed to mitigate limitations of existing tools. Few reliability studies are available and are limited to certain geographical regions with varying results. This study was performed to analyze reproducibility and reliability of the Luk Distal Radius and Ulna Classification in European patients.MethodsThis is a radiological study of 50 randomly selected left hand and wrist radiographs of patients with AIS referred to a tertiary referral centre. They were assessed for bone maturity using the Luk Distal Radius and Ulna Classification. Assessment was performed twice by four examiners at an interval of one month. Statistical analysis was performed using the intraclass correlation (ICC) method to determine the reliabilities within and between the examiners.ResultsIn total, 50 radiographs (M:F = 13:37) with a mean age of 13.7 years (10 to 18) were assessed for reliability. The inter-rater ICC value was 0.918 for radius assessment and 0.939 for ulna assessment. The intra-rater ICC values for radius assessment ranged between 0.897 and 0.769 and between 0.948 and 0.786 for ulna assessment. There was near perfect correlation for both assessments.ConclusionThis study provides independent evidence that the Luk Distal Radius and Ulna Classification is a reliable tool for assessment of skeletal maturity for European patients. Minimal clinical experience is required to reliably utilize it.Level of evidenceIV