ABSTRACT
Objective:To investigate the correlation between TNFAIP3 gene polymorphism and osteoporotic fractures in the elderly and bone metabolism indexes.Methods:A total of 115 patients with senile osteoporotic fractures admitted to Peace Hospital Affiliated to Shanxi Changzhi Medical College from Jan. 2019 to Jun. 2021 were enrolled as the observation group, and 120 patients with senile osteoporotic fractures matched with gender, age and body mass index of the observation group were selected as the control group. The levels of blood calcium, blood phosphorus, alkaline phosphatase, 25-hydroxyvitamin D and other bone metabolism indexes of all subjects were recorded. The genotypes of rs10499194 and rs13207033 in TNFAIP3 gene were analyzed by capillary electrophoresis and fragment analysis (SNaPshot) . The mRNA relative expression level of TNFAIP3 gene in peripheral blood of all subjects was determined by quantitative real-time fluorescence quantitative polymerase chain reaction.Results:There were statistically significant differences in genotype distribution and gene frequency of RS10499194 and RS13207033 between the observation group and the control group ( P<0.05) . For rs10499194, CT genotype carriers had a significantly higher risk of fracture than wild-type CC genotype carriers [OR=3.253 (1.223-8.652) , P=0.014]. The dominant model was also statistically significant ( P=0.003) . For rs13207033, GA carriers had a significantly higher risk of fracture than wild-type GG carriers [OR=3.775 (1.192-11.952) , P= 0.016]. The dominant model was statistically significant ( P=0.009) . The blood calcium level in AA+GA group was significantly higher than that in GG group at rs13207033 site ( P=0.006) . The mRNA expression level of TNFAIP3 gene in the observation group was 1.41±0.09, which was significantly lower than that in the observation group (2.07±0.12, t=6.69, P<0.001) . TNFAIP3 mRNA expression level of rs10499194 site TT+CT group was 1.35±0.11, significantly lower than CC group 1.43±0.13 ( t=2.82, P=0.007) . Conclusion:The polymorphism of TN-FAIP3 gene is related to the occurrence of osteoporotic fractures and bone metabolism, and may affect the gene expression level.
ABSTRACT
Objective To investigate the features and treatments of teardrop fracture of the axis.Methods Of the 17 consecutive patients with teardrop fracture of the axis who had been managed between January 2008 and January 2016 at our trauma center,13 were included in this study according to our research criteria.On their lateral X-ray films of the skull base,the height,width,lateral displacement and rotation of the fracture fragments were measured.Continuity of the anterior longitudinal ligament and instability of C2-3 and posterior ligamentous complex were evaluated on their cervical MRI images.Seven patients were immobilized for 3 months with the Philadelphia collar or Halo-vest device and 6 ones underwent anterior C2-3 cervical surgery.Results For patients receiving conservative and operative treatments,at the sagittal view,the height,width,lateral displacement,anterior rotation and posterior displacement of the fracture fragments averaged 12.0 mm versus 14.8 mm,6.85 mm versus 8.33 mm,7.07 mm versus 8.50 mm,20.0° versus 30.1°,and 1.71 mm versus 3.0 mm,respectively.One patient suffered C2 disc injury and 6 ones C3 disc injury.All the patients were followed up for an average of 26.4 months (from 12 to 36 months).Complications included uncomfortable swallowing in 3 cases and mild residual neck pain in one.There was no delayed union,nonunion,or vertebral instability.At last follow-ups,the mean visual analogue score for pain was 1.7 and the Japanese Orthopaedic Association scores were 17 in 11 patients and 16 in 2 patients.Conclusions Most teardrop fractures can be treated conservatively because their small fracture fragments and minor displacements can be reduced after traction.However,those with large fragments and C2-3 vertebral injury and instability should be treated by anterior cervical discectomy and fusion.
ABSTRACT
Objective To investigate the features and treatments of teardrop fracture of the axis.Methods Of the 17 consecutive patients with teardrop fracture of the axis who had been managed between January 2008 and January 2016 at our trauma center,13 were included in this study according to our research criteria.On their lateral X-ray films of the skull base,the height,width,lateral displacement and rotation of the fracture fragments were measured.Continuity of the anterior longitudinal ligament and instability of C2-3 and posterior ligamentous complex were evaluated on their cervical MRI images.Seven patients were immobilized for 3 months with the Philadelphia collar or Halo-vest device and 6 ones underwent anterior C2-3 cervical surgery.Results For patients receiving conservative and operative treatments,at the sagittal view,the height,width,lateral displacement,anterior rotation and posterior displacement of the fracture fragments averaged 12.0 mm versus 14.8 mm,6.85 mm versus 8.33 mm,7.07 mm versus 8.50 mm,20.0° versus 30.1°,and 1.71 mm versus 3.0 mm,respectively.One patient suffered C2 disc injury and 6 ones C3 disc injury.All the patients were followed up for an average of 26.4 months (from 12 to 36 months).Complications included uncomfortable swallowing in 3 cases and mild residual neck pain in one.There was no delayed union,nonunion,or vertebral instability.At last follow-ups,the mean visual analogue score for pain was 1.7 and the Japanese Orthopaedic Association scores were 17 in 11 patients and 16 in 2 patients.Conclusions Most teardrop fractures can be treated conservatively because their small fracture fragments and minor displacements can be reduced after traction.However,those with large fragments and C2-3 vertebral injury and instability should be treated by anterior cervical discectomy and fusion.
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family affected with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; OMIM 183900) and to analyze the phenotype-genotype correlation.</p><p><b>METHODS</b>Complete physical, and radiographic examinations of 4 affected individuals from the family were conducted. Genomic DNA was isolated from peripheral blood leukocytes. Whole-exome sequencing was performed using a HiSeq2000 sequencer. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.</p><p><b>RESULTS</b>All of the 4 individuals were found to carry a novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene, while the same mutation was not found in the normal members of the family and 50 healthy controls. Protein prediction of missense mutation by Polyphen-2 and SIFT software indicated severe damage to the function.</p><p><b>CONCLUSION</b>The mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.</p>