Research progress on the etiology and pathogenesis of adolescent idiopathic scoliosis.

Etiology of adolescent idiopathic scoliosis (AIS), a complicated three-dimensional spinal deformity with early-onset, receives continuous attention but remains unclear. To gain an insight into AIS pathogenesis, this review searched PubMed database up to June 2019, using key words or medical subject headings terms including "adolescent idiopathic scoliosis," "scoliosis," "pathogenesis," "etiology," "genetics," "mesenchymal stem cells," and their combinations, summarized existing literatures and categorized the theories or hypothesis into nine aspects. These aspects include bone marrow mesenchymal stem cell studies, genetic studies, tissue analysis, spine biomechanics measurements, neurologic analysis, hormone studies, biochemical analysis, environmental factor analysis, and lifestyle explorations. These categories could be a guidance for further etiology or treatment researches to gain inspiration.

Relationship between the small cervical vertebral body and the morbidity of cervical spondylosis.

This study aimed to determine the relationship between the size of the cervical vertebral body and the morbidity of cervical spondylosis, and to examine the characteristics of spondylosis patients with small cervical vertebral bodies.The clinical data and the sagittal reconstructions of computed tomography images of 182 patients with cervical spondylosis were collected retrospectively. Patients included 74 males and 108 females, with a mean age of 31.8 years (range 20-40 years). The Torg-Pavlov ratio and the sagittal diameter of the vertebral body were measured. A Torg-Pavlov ratio above 1.2 was regarded as a small cervical vertebral body (SCVB), and below 1.2 as a nonsmall vertebral body (NSCVB).The NSCVB group was more prone to neurological symptoms than was the SCVB group (P < .05). There was no significant difference in neck pain between the 2 groups (P > .05). Conservative treatment achieved similar recovery rates in the SCVB group and the NSCVB group (81.8% vs 93.6%; P > .05). The rate of symptom (eg, axial neck pain) recurrence and persistence in the SCVB group was significantly higher than in the NSCVB group (P < .05).Our study found that smaller size of the cervical vertebral body is an attributing factor for cervical spondylosis. Patients with smaller cervical vertebral bodies are prone to persistent axial neck pain, but not neurological symptoms.

Expression Signatures of Long Noncoding RNAs in Adolescent Idiopathic Scoliosis.

PURPOSE: Adolescent idiopathic scoliosis (AIS), the most common pediatric spinal deformity, is considered a complex genetic disease. Causing genes and pathogenesis of AIS are still unclear. This study was designed to identify differentially expressed long noncoding RNAs (lncRNAs) involving the pathogenesis of AIS. METHODS: We first performed comprehensive screening of lncRNA and mRNA in AIS patients and healthy children using Agilent human lncRNA + mRNA Array V3.0 microarray. LncRNAs expression in different AIS patients was further evaluated using quantitative PCR. RESULTS: A total of 139 lncRNAs and 546 mRNAs were differentially expressed between AIS patients and healthy control. GO and Pathway analysis showed that these mRNAs might be involved in bone mineralization, neuromuscular junction, skeletal system morphogenesis, nucleotide and nucleic acid metabolism, and regulation of signal pathway. Four lncRNAs (ENST00000440778.1, ENST00000602322.1, ENST00000414894.1, and TCONS_00028768) were differentially expressed between different patients when grouped according to age, height, classification, severity of scoliosis, and Risser grade. CONCLUSIONS: This study demonstrates the abnormal expression of lncRNAs and mRNAs in AIS, and the expression of some lncRNAs was related to clinical features. This study is helpful for further understanding of lncRNAs in pathogenesis, treatment, and prognosis of AIS.

Etiological and clinical analysis of osteonecrosis of the femoral head in Chinese patients.

BACKGROUND: Many potential causative factors are related to the initiation and progression of osteonecrosis of the femoral head. The aim of this research was to investigate the etiology and clinical features of osteonecrosis of the femoral head in Chinese patients. METHODS: From January 1990 to July 2011, 643 cases of osteonecrosis of the femoral head were investigated retrospectively to analyze the potential causative factors, age, gender, latency period, time from the onset of pain to diagnosis, and Association Research Circulation Osseous stage. RESULTS: Of 643 cases, 315 cases were bilateral and 328 cases were unilateral, with an average age of (47.55 ± 15.27) years. In the steroid-induced group, the average age at symptom onset was (41.80 ± 15.47) years, and the median duration from taking steroid to the onset of pain was 36 months. The underlying diseases in the steroid-induced osteonecrosis of the femoral head group consisted of autoimmune and other diseases, of which systemic lupus erythematosus was the most common. In the alcohol-induced group, the average age at onset of symptoms was (48.06 ± 11.90) years and the median time of habitual alcohol use was 240 months. In the traumatic group, the average age was (51.43 ± 14.23) years and the median time from trauma to the onset of pain was 20 months. In the idiopathic group, the average age was (50.33 ± 15.88) years. Of the total of 958 hips, 647 were at stage III or IV. The stage at diagnosis was earlier in the steroid-induced group than in the alcohol-induced, traumatic, or idiopathic groups. CONCLUSIONS: Steroid use is the most common cause for osteonecrosis of the femoral head in this study. The age at diagnosis, time from the onset of pain to diagnosis, and stage were significantly earlier in the steroid-induced group.

[Association study of HTR1A and HTR1B with adolescent idiopathic scoliosis].

OBJECTIVE: To assess whether HTR1A and HTR1B polymorphisms are associated with the predisposition, gender, PUMC Classification and/or severity of adolescent idiopathic scoliosis (AIS). METHODS: Rs6294 (HTR1A) and rs6296 (HTR1B) were genotyped in 103 AIS patients treated from January 2006 to March 2007, and 108 controls with matched gender and age. The data were analyzed by the allelic and genotypic association analysis, and the genotype-phenotype (gender, PUMC Classification, and Cobb angle) association analysis. RESULTS: The distributions of the alleles of all the 2 SNPs met Hardy-Weinberg equilibrium in the controls (goodness-of-fit chi(2) test, P > 0.05). The allele A of rs6294 was related with the occurrence of AIS (P = 0.041), but differences of the allele frequencies of rs6296 and the genotype frequencies of both SNPs between 2 groups had no statistical significance (P > 0.05). The genotype A/A + A/G of rs6294 was associated with AIS PUMC type III, and there was no other positive results in genotype-phenotype association analysis. CONCLUSION: These results suggest that HTR1A may be a predisposition gene of AIS PUMC type III, and PUMC Classification may has its genetic basis.

[Is polymorphism of CALM1 gene or growth hormone receptor gene associated with susceptibility to adolescent idiopathic scoliosis?].

OBJECTIVE: To investigate the major effect of the candidate genes, calmodulin 1 (CALM1) and growth hormone receptor (GHR) gene, in mechanism of adolescent idiopathic scoliosis (AIS) and to evaluate the cross-influence between the polymorphism of the candidates genes and risk factors of AIS. METHODS: Peripheral blood samples were collected from 30 AIS patients, 6 boys and 24 girls, aged 15.7, and 30 gender and age-matched controls. Genomic DNA was extracted. PCR amplification and sequencing of the segments containing SNPs chosen from candidate genes were conducted. The SNPs were genotyped then. Statistical analysis was conducted. Questionnaire survey was conducted in terms of the risk factors. RESULTS: (1) The AIS patients had higher corrected standing height and an earlier growth spurt than the controls. (2) The frequencies of CC genotype of CALM1 gene at -16C > T locus and homozygous genotype of GHR gene at exon 10 I526L were significantly higher in the AIS patients than in the controls. (3) The frequencies of SNP03G-05A and SNP03G-05C haplotypes of GHR gene were significantly higher in the AIS patients than in the controls. (4) The frequency of PPGG (PP = homozygous genotype of GHR gene at I526L, GG = homozygous genotype of MTNR1B gene at rs1562444 locus) of the AIS patients was significantly higher than that of the controls. (5) The AIS patients who had homozygous genotype of GHR gene at I526L had an earlier growth spurt and higher standing height than those who had heterozygous genotype. CONCLUSION: The -16C > T polymorphism at the promoter region of CALM1 gene and the homozygous genotype of GHR gene at I526L may be associated with high susceptibility to AIS.