Curve characteristics in monozygotic twins with adolescent idiopathic scoliosis: 3 new twin pairs and a review of the literature

Most authors state that there is strong evidence for a genetic origin of adolescent idiopathic scoliosis (AIS). This conclusion is mainly based on the fact that the rate of concordance for AIS in monozygotic twins is significantly higher than that in dizygotic twins. However, it is of interest to determine whether all elements of scoliosis formation are genetically predetermined. If this were the case, there would perhaps be less place for closed treatment. We surveyed the literature for monozygotic twin pairs in which both members suffered from idiopathic scoliosis and added 3 pairs from our own patient group. The total group consisted of 32 twin pairs. We found that gender, direction of the convexity, the level of the apex and the kyphotic angle were determined more by genetic factors than the lateral Cobb angle of the scoliotic curve. This suggests that variations in the environment may affect the curve patterns in monozygotic twins.     

Curve characteristics in monozygotic twins with adolescent idiopathic scoliosis: 3 new twin pairs and a review of the literature

Most authors state that there is strong evidence for a genetic origin of adolescent idiopathic scoliosis (AIS). This conclusion is mainly based on the fact that the rate of concordance for AIS in monozygotic twins is significantly higher than that in dizygotic twins. However, it is of interest to determine whether all elements of scoliosis formation are genetically predetermined. If this were the case, there would perhaps be less place for closed treatment.

We surveyed the literature for monozygotic twin pairs in which both members suffered from idiopathic scoliosis and added 3 pairs from our own patient group. The total group consisted of 32 twin pairs.

We found that gender, direction of the convexity, the level of the apex and the kyphotic angle were determined more by genetic factors than the lateral Cobb angle of the scoliotic curve. This suggests that variations in the environment may affect the curve patterns in monozygotic twins.     

Non-genetic expression of adolescent idiopathic scoliosis: a case report and review of the literature

Treating children with idiopathic scoliosis can amaze someone at the many different ways in which the deformity can present. Most authors state that genetics stipulates the course of adolescent idiopathic scoliosis. This is mainly based on the high concordance in monozygotic twins. However, there is indication that environmental factors have influences on adolescent idiopathic scoliosis. This is the first report in which a monozygotic twin pair is described concordant for idiopathic scoliosis but with different apical levels, magnitudes and age at detection of scoliosis which stresses the importance of environmental factors.

     

基因组学在青少年特发性脊柱侧凸病因学研究中的应用进展

<正>青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)是最常见的脊柱三维畸形,在青少年人群中发病率为1%～4%,女性多于男性[1]。AIS的发病机制至今仍不明确,学者们针对AIS病因提出了众多假说,其中遗传学因素在疾病发生发展中的重要作用受到学者广泛关注。传统AIS遗传学研究主要依赖小样本的家系连锁分析和候选基因关联研究,近年来基因组学的迅速发展为传统遗传学研究做了重要补充。基因组学是指利用大样本、高通量的测序技术在全基因组范围研究基因的结构、功能及其调控,全基因组关联分析、外显子测序以及DNA甲基化测     

Efficacy of exercise therapy for the treatment of adolescent idiopathic scoliosis: a review of the literature

Purpose  

Current evidence regarding the use of exercise therapy in the treatment of adolescent idiopathic scoliosis (AIS) was assessed with a review of published literature.     

Timing of menarche in Chinese girls with and without adolescent idiopathic scoliosis: current results and review of the literature

Age at menarche is closely related to scoliosis progression during adolescence. Current data concerning the timing of menarche between scoliotic and non-scoliotic girls in the literature are conflicting, with inconclusive results. The aim of this study was to investigate the distribution difference of age at menarche for adolescent idiopathic scoliosis (AIS) girls and normal control population and to subsequently elucidate the menarche age difference through literature reviewing. Moreover, menarche age of AIS girls with Cobb angle <40°, 40–60°, >60° were compared to estimate its association with curve severity. Menstrual status data were available for 6,376 healthy female adolescents and 2,196 AIS girls. We notice that less than 10% of healthy Chinese girls experienced onset of menses before 11.38 years, and approximately 90% of healthy Chinese girls were menstruating by 13.88 years, with a median age of 12.63 years. As for AIS girls, less than 10% started to menstruate before 11.27 years, and approximately 90% were menstruating by 14.38 years, with a median age of 12.83 years. Average menarche age in AIS (12.83 ± 1.22 years) was significantly later than that of normal control girls (12.63 ± 0.98 years) (p < 0.001). Age at menarche for AIS affected girls was significantly greater than that of normal control girls at 75%, 90% of whom had attained menarche (p = 0.001, p < 0.001). Proportion of girls starting to menstruate after 14 years was significantly higher in AIS population compared with normal controls (16.3 vs. 8.1%, p < 0.001). In addition, AIS girls with Cobb angle >60° experienced onset of menses at an average age of 13.25 years, which was significantly later than AIS girls with Cobb angle <40° (12.81 years, p < 0.05) and marginally significantly later than AIS girls with Cobb angle between 40 and 60° (12.86 years, p = 0.053). In conclusion, a tendency of delayed onset of menarche was observed in Chinese idiopathic scoliotic girls in this large sample study, especially for girls with Cobb angle >60°, which is supported by multiple previously established positive linkages on AIS etiology studies. Accordingly it is believed that late menarche may contribute importantly to abnormal pubertal growth and subsequently modulate curve behavior in AIS.     

Congenital scoliosis in non-identical twins: case reports and literature review

Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environment and in utero events during embryologic development. Case reports of fraternal (non-identical) juvenile male twins with congenital scoliosis associated with differing congenital vertebral anomalies are presented. Both children were asymptomatic at the time of the initial consultation and showed no signs of neurologic compromise. Rapidly progressive, severe genetic scoliosis requires prudent observation and referral to a pediatric orthopedic surgeon to determine appropriate options for care and to screen for potentially life threatening disorders. Chiropractors may be seen as gatekeepers for scoliosis and a thorough understanding of appropriate standards of care is required.     

Concordance for neuroblastoma in monozygotic twins: case report and review of the literature

The patients were infant male twins born by cesarean delivery following a healthy pregnancy at 36 weeks' gestation to unrelated parents. At 4 months of age, twin 2 presented with hepatomegaly and a right suprarenal mass. Resection of an adrenal tumor and a liver tumor biopsy were performed. Twin 1 had no symptoms at 4 months of age. Screening by abdominal ultrasonography showed multiple masses in the liver but no adrenal mass. Metaiodobenzylguanidine scintigraphy showed positive findings in multiple liver masses. A laparoscopic biopsy for a liver tumor was performed. All primary tumor and liver tumor specimens from twin 2 and the liver tumor of twin 1 had the same histologic classification of neuroblastoma and nearly identical genetic aberrations, including a chromosome gain or loss using array-comparative genomic hybridization. From these clinical and pathologic findings and genetic analyses, we strongly demonstrate the transplacental metastatic spread from twin 2 to twin 1. In the literature, 9 pairs of concordant twin neuroblastomas, including the current twin, have been presented; and the clinical findings of 5 twin pairs may represent placental metastases from one twin with congenital neuroblastoma to the other twin. This study is the first report presenting the possibility of twin-to-twin metastasis in monozygotic twins with neuroblastoma based on an analysis of the clinical features and genetic aberrations.     

Radial head dislocation due to gigantic solitary osteochondroma of the proximal ulna: case report and literature review

Developmental anterior dislocation of the radial head resulting from a congenital solitary osteochondroma of the proximal ulna is an extremely rare condition. We present a case of a 4-year-old girl with this condition affecting her right elbow, which was treated by a trapezoidal shortening osteotomy at the radial neck following an oblique ulnar osteotomy with angulation and elongation after a complete resection of the tumor mass. The child remained asymptomatic with symmetric carrying angles during 2.5 years of follow-up post-surgery. We discuss the nature of this condition and review the literature.     

Osteopenia: a new prognostic factor of curve progression in adolescent idiopathic scoliosis

BACKGROUND: Studies have shown that 27% to 38% of girls with adolescent idiopathic scoliosis have systemic osteopenia. The aim of this study was to investigate whether osteopenia could serve as one of the important prognostic factors in predicting curve progression. METHODS: A prospective study was performed in 324 adolescent girls with adolescent idiopathic scoliosis who had a mean age of thirteen and a half years. Bone mineral density of the spine and both hips was measured at the time of the clinical diagnosis of scoliosis. All patients were followed longitudinally until skeletal maturity or until the curve had progressed > or =6 degrees . The univariate chi-square test and stepwise logistic regression were used to predict the prevalence of curve progression, and a receiver operating characteristic curve was plotted. RESULTS: The overall prevalence of curve progression was 50%. The prevalence of osteopenia at the spine and hips was 27.5% and 23.1%, respectively. A larger initial Cobb angle (odds ratio = 4.6), a lower Risser grade (odds ratio = 4.7), premenarchal status (odds ratio = 2.5), osteopenia in the femoral neck of the hip on the side of the concavity (odds ratio = 2.3), and a younger age at the time of diagnosis (odds ratio = 2.1) were identified as risk factors in predicting curve progression. A predictive model was established, and the area under the receiver operating characteristic curve of the model was 0.80 (p < 0.01). CONCLUSION: Osteopenia may be an important risk factor in curve progression. The measurement of bone mineral density at the time of diagnosis may serve as an additional objective measurement in predicting curve progression in adolescent idiopathic scoliosis. The bone mineral density-inclusive predictive model may be used in treatment planning for patients with adolescent idiopathic scoliosis who are at high risk of curve progression.     

Testicular germ cell tumors in monozygotic twins: case report and review of the literature

We report the eleventh instance of testicular germ cell tumors in monozygotic twins. The tumors were concomitant but of different histology. The comparable lymphography and computerized tomography scan findings, tumor response to chemotherapy and side effects are discussed. We conclude that there is no definite evidence for an increased risk in relatives of patients with this disease.     

Selective fusion for adolescent idiopathic scoliosis: a review of current operative strategy

Selective fusion of thoracic and thoracolumbar/lumbar curves in adolescent idiopathic scoliosis is a concept critically debated in the literature. While some surgeons strongly believe that a more rigid and straighter spine provides predictably excellent outcomes, some surgeons recommend a mobile and less straight spine. This topic is a crucial part of surgical treatment of idiopathic scoliosis, particularly in young patients who will deal with the stress of the fusion mass at the proximal and distal junctions over many years. This study will review the literature on various aspects of selective fusion.     

青少年特发性脊柱侧凸结构性腰弯患者腰椎关节突关节角的变化及其意义

目的:观察青少年特发性脊柱侧凸(AIS)结构性腰弯患者腰椎关节突关节角角度与正常腰椎关节突关节角角度的差异,探讨AIS患者后期出现腰背痛和腰椎退行性疾病高发的可能原因.方法:结构性腰弯的AIS患者21例(AIS组),非脊柱畸形的青少年20例(对照组).AIS组中男3例,女18例,年龄12～17岁,平均14.4岁,腰弯Cobb角38°～115°,平均54.2°.对照组男8例,女12例,年龄10～19岁,平均为15.2岁.均采用螺旋CT连续扫描T12～S1.通过PACS Client软件测量所有受试者腰椎关节突关节角和结构性腰弯AIS患者腰椎RAsag角.将对照组左、右侧腰椎关节突关节角角度进行配对t检验:对AIS组患者凹侧、凸侧的腰椎关节突关节角角度进行配对t检验.并对凹侧与凸侧腰椎关节突关节角角度差和Cobb角、相应节段腰椎的RAsag角进行相关性分析.结果:对照组双侧腰椎关节突关节角角度在所有节段未见显著性差异(P>0.05).AIS组所有节段凹侧的腰椎关节突关节角角度明显大于凸侧(P<0.05);凹侧和凸侧的腰椎关节突关节角角度差与Cobb角、相应节段腰椎的RAsag角没有显著相关性(p>0.05).结论:结构性腰弯的AIS患者凹侧的腰椎关节突关节角度明显大于凸侧,这可能是该类患者后期凹侧腰椎关节突关节更易发生退行性病变的因素之一.     

青少年特发性脊柱侧凸青春期生长发育形态学特征

目的探讨青少年特发性脊柱侧凸(adolescentidiopathicscoliosis,AIS)患儿青春期生长发育的形态学特征。方法对256例12～16岁(平均14.1岁)AIS女性患儿及462例12～16岁(平均14.3岁)健康非侧凸女孩的大体形态学资料进行分析。AIS诊断标准为冠状面上>10°的脊柱侧凸畸形。观测指标包括身高、坐高、臂长及月经状况。采用Bjure公式计算校正身高及校正坐高。AIS组及对照组的各项指标进行比较分析。结果AIS组与对照组的年龄构成比较,差异无统计学意义(P>0.05)。从研究群体看,AIS组的身高、坐高以及臂长与对照组比较,差异无统计学意义(P>0.05),但校正身高、校正坐高显著高于对照组(P<0.01),且月经来潮早于对照组(P<0.01)。从各年龄组看,12岁时,AIS组的校正身高、校正坐高、臂长与对照组相比差异无统计学意义(P>0.05),甚至AIS组校正前平均身高低于对照组。13～15岁,AIS组的校正身高、校正坐高、臂长显著高于对照组(P<0.01)。16岁时,虽然AIS组的校正身高及校正坐高略高于对照组(P<0.05),但身高、坐高以及臂长与对照组比较差异无统计学意义(P>0.05)。结论AIS患儿青春期生长发育存在形态学的异常,这可能与其发病机制有关。     

Predictors of spine deformity progression in adolescent idiopathic scoliosis: A systematic review with meta-analysis

AIM: To evaluate published data on the predictors of progressive adolescent idiopathic scoliosis (AIS) in order to evaluate their efficacy and level of evidence.METHODS: Selection criteria: (1) study design: randomized controlled clinical trials, prospective cohort studies and case series, retrospective comparative and none comparative studies; (2) participants: adolescents with AIS aged from 10 to 20 years; and (3) treatment: observation, bracing, and other. Search method: Ovid MEDLINE, Embase, the Cochrane Library, PubMed and patent data bases. All years through August 2014 were included. Data were collected that showed an association between the studied characteristics and the progression of AIS or the severity of the spine deformity. Odds ratio (OR), sensitivity, specificity, positive and negative predictive values were also collected. A meta-analysis was performed to evaluate the pooled OR and predictive values, if more than 1 study presented a result. The GRADE approach was applied to evaluate the level of evidence.RESULTS: The review included 25 studies. All studies showed statistically significant or borderline association between severity or progression of AIS with the following characteristics: (1) An increase of the Cobb angle or axial rotation during brace treatment; (2) decrease of the rib-vertebral angle at the apical level of the convex side during brace treatment; (3) initial Cobb angle severity (> 25^o); (4) osteopenia; (5) patient age < 13 years at diagnosis; (6) premenarche status; (7) skeletal immaturity; (8) thoracic deformity; (9) brain stem vestibular dysfunction; and (10) multiple indices combining radiographic, demographic, and physiologic characteristics. Single nucleotide polymorphisms of the following genes: (1) calmodulin 1; (2) estrogen receptor 1; (3) tryptophan hydroxylase 1; (3) insulin-like growth factor 1; (5) neurotrophin 3; (6) interleukin-17 receptor C; (7) melatonin receptor 1B, and (8) ScoliScore test. Other predictors included: (1) impairment of melatonin signaling in osteoblasts and peripheral blood mononuclear cells (PBMC); (2) G-protein signaling dysfunction in PBMC; and (3) the level of platelet calmodulin. However, predictive values of all these findings were limited, and the levels of evidence were low. The pooled result of brace treatment outcomes demonstrated that around 27% of patents with AIS experienced exacerbation of the spine deformity during or after brace treatment, and 15% required surgical correction. However, the level of evidence is also low due to the limitations of the included studies.CONCLUSION: This review did not reveal any methods for the prediction of progression in AIS that could be recommended for clinical use as diagnostic criteria.     

肘关节后外侧旋转不稳定1例并相关文献综述

患者,女,23岁,外伤致左肘关节脱位后,左肘关节长期持续性疼痛。保守治疗8个月后,症状未缓解。此外,当肘关节活动后,患者有弹出感。体格检查可见左肘关节轻度肿胀,外侧压痛。伸肘时患者有疼痛和恐惧感。外侧抽移恐惧试验(lateral pivotshift apprehension test)和撑桌试验(tabletop     

腓骨近端截骨与关节镜下清理治疗中老年膝关节骨关节炎

目的 探讨腓骨近端截骨与关节镜下清理治疗中老年膝关节骨关节炎的临床效果.方法 将90例膝关节骨关节炎患者按照治疗方法 的不同分为对照组(采用全膝关节置换术治疗,45例)与观察组(采用腓骨近端截骨与关节镜下清理治疗,45例).记录两组住院时间、治疗费用、并发症发生情况.术后6个月采用HSS评分、疼痛VAS评分、膝关节活动...     

特发性脊柱侧凸患者脊柱畸形段凸侧及凹侧关节突松质骨三维微结构比较

目的比较青少年特发性脊柱侧凸(AIS)患者脊柱畸形顶椎区和端椎区两侧关节突松质骨的三维微结构。方法AIS患者9例,均为女性,年龄12～17岁,平均14.9岁;Cobb角48°～84°,平均56°。患者均接受后路矫形融合内固定手术,术前与患者家长签署同意书,在去皮质手术时取下顶椎区和上下端椎区两侧关节突。标本取材后用中性福尔马林固定,然后用解像度为20μm的微焦点CT扫描,三维图像重组进行骨形态计量学测量对比。结果顶椎区凸侧与凹侧相比有显著差异,分别为:骨量容积比BV/TV为0.268/0.354(P<0.05),骨小梁厚度TbTh为0.20/0.24(P<0.05),骨小梁分离度TbSP为0.66/0.56(P<0.05),骨小梁面积体积比BS/BV为12.7/10.4,P<0.05)。端椎区左右两侧关节突松质骨骨小梁无明显差异,上胸椎和胸腰椎关节突骨小梁微结构比较未见差异。结论由于脊柱侧凸凹侧承受不同应力,凹侧关节突出现更多的骨小梁,骨小梁间的连接更紧密,而且骨小梁更粗,从而可使脊椎楔形变的速度变缓,提示脊柱的骨骼本身并不是AIS脊柱侧凸畸形进展的促进因素。     

Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis in East Asians: a systematic review and meta-analysis

Background contextThe rs11190870 single nucleotide polymorphism in the 3'-flanking region of the LBX1 gene has been implicated in the etiology of adolescent idiopathic scoliosis (AIS). A thorough appraisal of the evidence supporting this association has not been previously attempted.PurposeTo provide a comprehensive assessment and synthesis of the currently available evidence on the association between rs11190870 and AIS.Study designA systematic review and meta-analysis.MethodsThis review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. PubMed (MEDLINE), EMBASE, Scopus, and HuGE Literature Finder databases were systematically searched through November 2013 to identify relevant studies following a sensitive strategy. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were estimated using the fixed-effect inverse variance model for allelic (T vs. C) and genotypic comparisons.ResultsMeta-analysis of four studies conducted in East Asian populations (n=3,215 AIS cases and n=15,347 controls) found a highly statistically significant and robust association between rs11190870 and AIS. Comparison of summary ORs indicated a codominant model effect of the T allele. Carriers of the TC and TT genotypes were 69% (OR=1.69, 95% CI: 1.48–1.94, p<.001) and 162% (OR=2.62, 95% CI: 2.28–3.02, p<.001), respectively, more likely to have AIS compared with carriers of the CC genotype.ConclusionsBased on a comprehensive analysis of the currently available evidence, rs11190870 is likely a susceptibility variant for AIS in East Asians. Further investigation of this association is necessary in other populations.