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.     

先天性多发半椎体畸形脊柱侧凸1例并文献复习

正先天性脊柱畸形是椎体先天发育异常引起脊柱在冠状面上的不平衡生长而导致的脊柱畸形~([1])。而半椎体畸形作为椎体形成障碍中的一种,是先天性脊柱侧凸最常见的原因,约占先天性脊柱侧凸的46%~([2])。目前,国内外已有较多关于半椎体导致的先天性脊柱畸形的手术治疗的报道~([3-7]),但以单发半椎体畸形居多,多发半椎体畸形的手术治疗报道相对较少。本院于2015年8月采用后路半椎体切除椎弓根钉内固定术治疗先天性多发半椎体畸形脊柱侧凸1例,现将诊疗过程报告如下。     

Dynesys矫形动态内固定术治疗青少年特发性脊柱侧凸1例报道

传统的脊柱侧凸矫形融合术治疗青少年特发性脊柱侧凸（adolescent idiopathic scoliosis,AIS）效果确切。但同时也牺牲了融合节段的运动功能,尤其是以胸腰段/腰段为主弯的AIS,腰椎运动丢失更多。Dynesys系统是一种经椎弓根固定的动态内固定系统。与传统腰椎融合术相比,Dynesys动态内固定术具有重建脊柱稳定、限制节段过度屈伸的同时保留一定活动度的特点,已广泛应用于腰椎退变性疾病的治疗。作为一种半坚强固定系统,Dynesys系统也具有一定矫形作用,有学者尝试将其应用于轻度成人退变性脊柱侧凸治疗,取得了很好的效果。能否将Dynesys系统应用于胸腰段/腰段为主弯的AIS患者,文献中尚未有相关报道。2019年11月我科采用Dynesys矫形动态内固定术治疗1例胸腰段AIS患者,取得满意效果,报道如下。     

Thoracic spondylitis mimicking idiopathic scoliosis: a case report

We report the case of a 12-year-old girl with thoracic spondylitis, who initially presented with a painless scoliotic deformity and was therefore misdiagnosed as having idiopathic scoliosis. Six weeks after initiation of brace therapy, increasing back pain necessitated admission. X-Ray, bone scintigraphy and magnetic resonance imaging then revealed a pathologic process in D8. To rule out a tumorous lesion, open biopsy was performed and led to the diagnosis of acute spondylitis. Treatment with oral antibiotics and bed rest led to a complete resolution of the scoliotic deformity, which clearly demonstrated that it was secondary to spondylitis. After 2 years, the girl is persistently well and free of pain. This unusual presentation of spondylitis delayed correct diagnosis and therefore specific treatment in the case of this 12-year-old girl.     

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。     

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.     

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.     

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.     

青少年椎间盘钙化自发性恢复1例报告并文献复习

椎间盘钙化是成人常见脊柱疾病,而在青少年中较为罕见[1-2].青少年椎间盘钙化是一种自限性疾病,大多数患者主要表现为颈部、背部和上肢疼痛及斜颈等,也有一些无症状患者在常规体检中被发现,通常预后良好.目前,对于症状性青少年椎间盘钙化是采用非手术治疗还是积极手术治疗仍有争议.有研究[3-5]显示,青少年椎间盘钙化经非手术治疗大多预后良好,少数患者出现复发或进展.因此,有必要通过长期随访研究来明确青少年椎间盘钙化是否需要手术治疗.本研究通过复习相关文献,并结合本院收治的1例青少年椎间盘钙化自发性恢复患者的诊疗过程,探讨青少年椎间盘钙化的可能病因、诊疗方案及其引发的严重神经系统症状的长期预后.     

Critical review on non-operative management of adolescent idiopathic scoliosis

There are a number of different non-operative interventions which aim to control moderate adolescent idiopathic scoliosis (AIS) from progression. Clinicians may find difficulties in the selection of appropriate interventions for AIS. A comprehensive literature review was carried out to study all contemporary non-operative interventions, it was noted that rigid spinal orthoses apparently give more curve control; however, it would compromise the patient's quality of life via those inevitable factors--physical constraint, poor acceptance and psychological disturbance. There is a trend to develop more effective, acceptable and user-friendly interventions. Under such an aspiration, the theories and clinical evidence of different interventions should be developed along the clinical pathway of early intervention with reliable indicators/predictors, patient's active participation, dynamic control mechanism, holistic psychological and psychosocial considerations, and effective and long-lasting outcome.     

Melatonin and adolescent idiopathic scoliosis

Scoliosis seen in the chicken after pinealectomy resembles adolescent idiopathic scoliosis in man. It has been suggested that in both species, deficiency of the pineal hormone, melatonin, is responsible for this phenomenon. In nine patients with adolescent idiopathic scoliosis and in ten age- and gender-matched controls, the circadian levels of serum melatonin and the excretion of urinary 6-hydroxy-melatonin-sulphate, the principal metabolite of melatonin, were determined. There were no statistically significant differences in the secretion of serum melatonin or the excretion of urinary 6-hydroxy-melatonin-sulphate between the patients and the control group. The hypothesis of melatonin deficiency as a causative factor in the aetiology of adolescent idiopathic scoliosis cannot be supported by our data.     

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.     

Chronic recurrent multifocal osteomyelitis presenting as acute scoliosis: a case report and review of literature

Chronic relapsing multifocal osteomyelitis (CRMO) is a rare condition. It commonly affects the clavicle and pelvis. Rarely it can affect the spine. Spinal deformity due to CRMO is rare. We report a case of acute scoliosis due to CRMO. A 10-year-old girl with CRMO presented with acute painful scoliosis of her spine. She was neurologically intact. Imaging suggested a neoplastic process involving T10, L2 and L3. Further imaging and subsequent biopsy was performed and a diagnosis of CRMO was established. Spinal involvement with deformity is uncommon. It is commonly misdiagnosed as infection or a neoplasm and unnecessary aggressive surgical and antibiotic therapy instituted. A high index of suspicion is needed to diagnose this disease and thus manage it appropriately. This patient with a previously normal spine had a long right sided thoracic scoliosis. We think that the particular pattern of scoliosis was a protective mechanism to offload the right sided T10 vertebral pedicle. Prognosis is generally good although the disease can relapse and remit over many years. At 9 months follow up, the lesions were resolving and the deformity had resolved. CRMO presenting as acute scoliosis is rare and to our knowledge this is the second recognised case in the reported world literature.

     

Costal osteochondroma causing pneumothorax in an adolescent: a case report and review of the literature

Costal osteochondroma is a rare but important condition to recognize because of the possibility of serious consequences if not diagnosed and treated promptly. Patients can present with numerous complications, including hemothorax, pneumothorax, nervous or vascular impingement, and fracture. We report the case of a 17-year-old adolescent boy who presented to the pediatrician with intermittent shortness of breath and pleuritic chest pain. A chest x-ray demonstrated a left-sided pneumothorax and triangular opacity in the left chest. A computed tomographic scan of the chest revealed the cause to be a costal exostosis of the anterior fifth rib. The lesion was excised using video-assisted thoracoscopic surgery, which has become an increasingly popular method for treating these lesions, causing significantly less morbidity and allowing for a faster recovery than a major thoracotomy.     

Epidemiology of adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis is a common disease with an overall prevalence of 0.47–5.2 % in the current literature. The female to male ratio ranges from 1.5:1 to 3:1 and increases substantially with increasing age. In particular, the prevalence of curves with higher Cobb angles is substantially higher in girls than in boys: The female to male ratio rises from 1.4:1 in curves from 10° to 20° up to 7.2:1 in curves >40°. Curve pattern and prevalence of scoliosis is not only influenced by gender, but also by genetic factors and age of onset. These data obtained from school screening programs have to be interpreted with caution, since methods and cohorts of the different studies are not comparable as age groups of the cohorts and diagnostic criteria differ substantially. We do need data from studies with clear standards of diagnostic criteria and study protocols that are comparable to each other.     

Management of adolescent idiopathic scoliosis

This article outlines several critical areas in the contemporary evaluation and treatment of the adolescent patient who has idiopathic scoliosis. Highlights of the physical examination combined with key radiographic measurements provide a framework for the algorithm of operative versus nonoperative treatment. The basics of the Lenke classification system are presented in a step-by-step outline, and the surgical treatment options based on this classification are summarized. This article provides a core knowledge base to facilitate a more thorough comprehension of adolescent scoliosis and allow readers to understand emerging publications more readily.     

Detection of adolescent idiopathic scoliosis

The aim of our study was to evaluate the current methods of detection of adolescent idiopathic scoliosis. Data were collected from 100 consecutive patients with adolescent idiopathic scoliosis referred to the Scoliosis clinic in 2000. The age of the patient, the Cobb angle at presentation and the person who first noticed the deformity were recorded. Sixty three percent of the cases were detected by family or friends. The number of cases being detected at school had dropped considerably to 8%. Fifty six percent of all cases presented with a Cobb angle of more than 40 degrees. Our study shows that the most common method of detection was by family and friends. Seventy percent of these cases were detected when the deformity was advanced with Cobb angles of more than 40 degrees. There was a drop in the number of cases detected at school when most of the curves are at an earlier stage. We believe that greater awareness is needed in the community, for earlier recognition of idiopathic scoliosis.