AIM To find accompanying anomalies of typical and atypical Scheuermann's disease(SD) is reported in the present study. METHODS Study included 20 patients(16 men and 4 women) who had radiological imaging radiograph...AIM To find accompanying anomalies of typical and atypical Scheuermann's disease(SD) is reported in the present study. METHODS Study included 20 patients(16 men and 4 women) who had radiological imaging radiography, magnetic resonance imaging(MRI) and computed tomography, if available, due to back pain, curved back and low back pain in November 2011-February 2016 period. Patients were categorized into typical and atypical patterns based on the region involved. Thoracic kyphosis values were measured using real Cobb angle. Accompanying disc degeneration, herniations and spinal cord pathologies were studied using MRI.RESULTS Age of the patients ranged from 11.0 to 23.0(mean 17.2 ± 3.0). Typical pattern of SD were detected in 15 patients while atypical pattern were detected in 5 patients. Cobb angle range was 40.2-67.2(mean 55.5 ± 8.7) in typical Scheuermann's patients and 24.7-49.9(mean 36.7 ± 10.8) in atypical ones. Intervertebral level was affected and had the measures of 3-8(mean 5.3 ± 1.6) and 7-9(mean 8.2 ± 0.8) in typical and atypical Scheuermann's patients, respectively. Level of degenerative disc disease in MRI was 1-7 discs(mean 4.1 ± 1.7) in typical patients and 5-10 discs(mean 7.6 ± 1.9) in atypical patients.CONCLUSION SD can be seen in typical and atypical patterns, typical being more frequent. Because degenerative disc diseases,herniations and cord pathologies such as syringomyelia can accompany SD(albeit more common in atypical pattern), it is necessary to evaluate these patients with plain radiography and MRI together.展开更多
BACKGROUND Diffuse idiopathic skeletal hyperostosis(DISH)is a disorder characterised by the calcification and ossification of ligaments and entheses.It is a frequent occurrence in elderly males,but rarely encountered ...BACKGROUND Diffuse idiopathic skeletal hyperostosis(DISH)is a disorder characterised by the calcification and ossification of ligaments and entheses.It is a frequent occurrence in elderly males,but rarely encountered in younger individuals.CASE SUMMARY A 24-year-old male was admitted to the hospital due to low back pain accompanied with numbness in both lower limbs for 10 d.Upon clinical examination and imaging tests,the patient was diagnosed with DISH with Scheuermann disease and thoracic spinal stenosis.Before the operation and medical treatment,the patient had hypoesthesia of the skin below the xiphoid process.Afterward,a standard laminectomy was conducted using ultrasonic bone curette and internal fixation was applied.Subsequently,the patient was given corticosteroids,neurotrophic drugs,hyperbaric oxygen and electric stimulation.As a result of the treatment,the patient’s sensory level decreased to the navel level and there was no major change in the muscle strength of the lower limbs.During follow-up,the patient’s skin sensation has returned to normal.CONCLUSION This case is a rare instance of DISH co-existing with Scheuermann’s disease in a young adult.This provides a valuable reference point for spine surgeons,as DISH is more commonly observed in middle-aged and elder adults.展开更多
文摘AIM To find accompanying anomalies of typical and atypical Scheuermann's disease(SD) is reported in the present study. METHODS Study included 20 patients(16 men and 4 women) who had radiological imaging radiography, magnetic resonance imaging(MRI) and computed tomography, if available, due to back pain, curved back and low back pain in November 2011-February 2016 period. Patients were categorized into typical and atypical patterns based on the region involved. Thoracic kyphosis values were measured using real Cobb angle. Accompanying disc degeneration, herniations and spinal cord pathologies were studied using MRI.RESULTS Age of the patients ranged from 11.0 to 23.0(mean 17.2 ± 3.0). Typical pattern of SD were detected in 15 patients while atypical pattern were detected in 5 patients. Cobb angle range was 40.2-67.2(mean 55.5 ± 8.7) in typical Scheuermann's patients and 24.7-49.9(mean 36.7 ± 10.8) in atypical ones. Intervertebral level was affected and had the measures of 3-8(mean 5.3 ± 1.6) and 7-9(mean 8.2 ± 0.8) in typical and atypical Scheuermann's patients, respectively. Level of degenerative disc disease in MRI was 1-7 discs(mean 4.1 ± 1.7) in typical patients and 5-10 discs(mean 7.6 ± 1.9) in atypical patients.CONCLUSION SD can be seen in typical and atypical patterns, typical being more frequent. Because degenerative disc diseases,herniations and cord pathologies such as syringomyelia can accompany SD(albeit more common in atypical pattern), it is necessary to evaluate these patients with plain radiography and MRI together.
文摘BACKGROUND Diffuse idiopathic skeletal hyperostosis(DISH)is a disorder characterised by the calcification and ossification of ligaments and entheses.It is a frequent occurrence in elderly males,but rarely encountered in younger individuals.CASE SUMMARY A 24-year-old male was admitted to the hospital due to low back pain accompanied with numbness in both lower limbs for 10 d.Upon clinical examination and imaging tests,the patient was diagnosed with DISH with Scheuermann disease and thoracic spinal stenosis.Before the operation and medical treatment,the patient had hypoesthesia of the skin below the xiphoid process.Afterward,a standard laminectomy was conducted using ultrasonic bone curette and internal fixation was applied.Subsequently,the patient was given corticosteroids,neurotrophic drugs,hyperbaric oxygen and electric stimulation.As a result of the treatment,the patient’s sensory level decreased to the navel level and there was no major change in the muscle strength of the lower limbs.During follow-up,the patient’s skin sensation has returned to normal.CONCLUSION This case is a rare instance of DISH co-existing with Scheuermann’s disease in a young adult.This provides a valuable reference point for spine surgeons,as DISH is more commonly observed in middle-aged and elder adults.
文摘目的:阐明细丝蛋白B基因(filamin B,FLNB)第1542位异亮氨酸(Ile/I)→苏氨酸(Thr/T)突变(FLNB p.Ile1542Thr,FLNB^(I1542T))在休门氏后凸畸形(Scheuermann′s kyphosis,SK)中的机制。方法:对一个汉族SK家系进行标准化临床评估,包括脊柱X线、CT三维重建及MRI检查。通过全外显子测序与Sanger测序筛选并验证致病性变异,依据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南进行致病性评估。采用CRISPR-Cas9技术构建携带FLNB^(I1542T)突变的小鼠模型,通过外观观察、显微CT成像及组织学染色(HE、Masson、Safranin O/Fast Green)对模型表型进行评估,以确认其是否重现SK特异的软骨终板缺陷与局部后凸畸形。利用单细胞RNA测序(scRNA-seq)结合生物信息学分析,解析软骨终板病理发育过程中关键的致病软骨细胞亚群及其靶分子调控网络。通过单细胞流式分选致病性软骨细胞亚群,并进一步利用免疫组化(immunohistochemistry,IHC)、免疫共沉淀(co-immunoprecipitation,Co-IP)验证FLNB^(I1542T)对c-Jun蛋白表达水平的影响;利用定量聚合酶链式反应(quantitative polymerase chain reaction,qPCR)、双荧光素酶报告基因等实验分析c-Jun对细胞外基质(extracellular matrix,ECM)稳态关键分子Serpinh1的转录激活调控,并利用免疫组化、Western blot分析Jun对ECM稳态的调控作用。结果:通过对先证者全外显子测序,鉴定出一个杂合FLNB c.4625T>C(p.Ile1542Thr)突变,与患者表型共分离,且计算预测提示其破坏蛋白稳定性。利用CRISPR-Cas9技术构建的FLNB^(I1542T)基因敲入小鼠,在生长发育过程中表现出与人SK患者相似的进行性胸腰段后凸、椎体体积与长度减小、骨化延迟及终板凹陷等影像学与组织病理学特征。单细胞转录组测序分析揭示,突变主要靶向并损害了终板软骨中的软骨形成细胞亚群的功能,导致该群细胞中与“软骨发育”和“细胞外基质组织”相关的基因表达程序显著下调。分子机制研究表明,FLNB^(I1542T)突变削弱了转录因子c-Jun的蛋白水平及其转录活性。c-Jun可直接结合并激活分子伴侣Serpinh1的启动子,而FLNB^(I1542T)突变导致的Jun功能抑制致使SERPINH1表达显著下降。SERPINH1的下游关键客户蛋白,包括COL2A1、COL9A3和COL11A2等维持ECM稳态的胶原蛋白,其表达也随之降低,从而破坏了软骨终板的ECM完整性。功能挽救实验证实,过表达Jun可逆转由FLNB^(I1542T)突变引起的SERPINH1及其下游胶原蛋白的表达下调。结论:FLNB^(I1542T)通过损害Jun的转录活性,抑制SERPINH1表达,从而破坏ECM胶原稳态,驱动SK的软骨终板缺陷与后凸畸形。
