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.     

双胞胎青少年特发性脊柱侧凸的发病特点

目的 :观察青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)双胞胎的共同发病率,比较同卵双胞胎之间的发病特点。方法:2007年1月~2016年12月期间我院收录同时患有AIS的双胞胎患者21对,其中女19对(含三胞胎1例),男2对,记录其初诊年龄、女性月经初潮年龄、BMI、Cobb角、胸椎后凸角、腰椎前凸角、Risser征等资料。通过短串联重复序列检测明确区分同卵双胞胎与异卵双胞胎,比较同卵双胞胎和异卵双胞胎的AIS共同发病率。选取同卵双胞胎中两人Cobb角差值≥10°的病例,将其中度数大者纳入侧凸较大组,度数小者纳入侧凸较小组,采用配对样本t检验比较两组之间初潮年龄、BMI、Risser征临床资料的差异。结果:21对双胞胎平均初诊年龄13.2±2.5岁,女性月经初潮年龄12.2±1.4岁,初诊时平均Cobb角29.2°±14.8°,胸椎后凸角16.8°±9.2°,腰椎前凸角45.5°±7.4°,BMI 17.0±1.6kg/m2,Risser征2.3±1.6。21对双胞胎中同卵双胞胎17对,异卵双胞胎4对。同卵双胞胎中16对(94.1%)共同患有AIS,11对(68.8%)弯型一致,4对(25.0%)Cobb角差值小于10°。异卵双胞胎中3对(75.0%)共同患有AIS,1对(33.3%)弯型一致,1对(33.3%)Cobb角差值小于10°。同卵双胞胎中Cobb角差值≥10°者12对,侧凸较大组的月经初潮年龄和BMI均小于侧凸较小组(P0.05),Risser征两组之间无统计学差异(P0.05)。结论 :同卵双胞胎AIS患者共同发病率较高(94.1%)且弯型一致,但同卵双胞胎两者间畸形严重程度不一,双胞胎中畸形较重者的月经初潮年龄较小、BMI较低。     

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.     

青少年特发性脊柱侧凸患者的心理特征分析

目的:分析青少年特发性脊柱侧凸(AIS)患者的心理特征,并与普通人群进行比较,为AIS患者的心理干预提供依据.方法:对2006年9月～2008年10月门诊或住院的46例AIS患者进行心理学评分,并和同年龄段的50例健康青少年志愿者(对照组)的评分进行比较,同时比较男女患者之间以及轻度(10°～40°)、中度(41°～90°)和重度(>90°)脊柱侧凸患者之间评分的差异.评分采用第四军医大学心理学教研室推荐的症状自评量表(symptom checklist 90,SCL-90)、抑郁自评量表(self-rating depressive scale,SDS)和焦虑自评量表(self-ratinganxiety scale,SAS),所有量表均由患者及志愿者本人独立完成,由我校心理学教研室进行统一分析.结果:AIS患者SCL-90躯体化、人际敏感、抑郁症状、焦虑症状、偏执症状评分均显著高于对照组(P<0.05),而强迫症状、敌对症状、恐怖症状和精神病性评分与对照组比较无显著性差异(P>0.05).对照组中男性的SDS和SAS评分与女性比较无显著性差异(P>0.05),AIS组女性患者的SDS和SAS评分均显著高于男性患者(P<0.05),AIS组女性患者的SDS和SAS评分与对照组女性比较有显著性差异(P<0.05),男性患者与对照组男性比较有显著性差异(P<0.05).重度脊柱侧凸患者的SDS和SAS评分明显高于轻、中度脊柱侧凸患者(P<0.05),但轻、中度患者间评分无显著性差异(P>0.05).结论:AIS患者的心理特征为躯体化、敏感、偏执、抑郁和焦虑,女性患者较男性更易发生抑郁和焦虑,重度脊柱侧凸患者心理异常较中、轻度脊柱侧凸患者更为明显.     

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.     

青少年特发性脊柱侧凸的病因学研究进展

青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)是一种包括冠状面上的侧弯、矢状面上的失平衡和椎体在横轴位上旋转在内的三维畸形。近年来,关于AIS的病因,学者们提出了许多可能的发病机制,包括基因与遗传理论、骨骼发育异常理论、内分泌与生长发育理论、神经肌肉理论等,但是还没有哪个假说能确切的解释AIS的自然史和发病过程。本文主要介绍AIS发病机制中的最新进展,使临床医生对AIS的发病机制有更好的了解,为AIS的研究和治疗提供新的思路。     

Evaluation of a new sagittal classification system in adolescent idiopathic scoliosis

European Spine Journal - The purpose of the present study was to validate a new spinal sagittal classification. We retrospectively included 105 consecutive AIS patients who underwent posterior...     

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.     

单胸弯及单腰弯特发性脊柱侧凸的躯体生长参数研究

 目的 探讨单胸弯及单腰弯青少年特发性脊柱侧凸(adolescent idiopathic scoliosis, AIS) 女性患者的躯体生长发育特点。方法 研究对象包括 339例 AIS女性患者和 3914位同龄健康女孩, 实 足年龄 10~17岁。单胸弯 AIS女孩(端椎位于 T₁~T₁₂之间)220例, 单腰弯 AIS女孩(端椎位于 T₁₂~L₅之 间)119例;Cobb角为 32°±10°(15°~63°)。测量所有 AIS组和对照组女孩的身高、体重及臂长, 计算体重 指数(body mass index, BMI)及下肢长度, 并根据 Bjure校正公式计算 AIS女性患者的校正身高及校正 坐高。结果 单胸弯与单腰弯 AIS患者的身高及坐高在各年龄段间差异均无统计学意义;而两组 AIS 女性患者的校正身高及坐高均明显高于同龄对照组女孩。同时两组 AIS患者的臂长及下肢长度也显著 长于正常青少年。在 15岁年龄段, 单胸弯 AIS患者的体重显著低于正常青少年, 而单腰弯 AIS患儿的 体重在各年龄段均与正常青少年相似。结论 与同年龄段正常青少年相比, 单胸弯和单腰弯 AIS患者 可能具有共同的异常生长模式;此外, 与正常女孩及单腰弯 AIS女孩相比, 单胸弯 AIS患者体内脂肪含 量偏低的趋势更为明显。     

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.