Application of whole exome sequencing technique for the pathogenic gene screening of rare osteopetrosis / 国际检验医学杂志

Objective To screen the pathogenic gene of osteopetrosis to provide reference for its genetic di-agnosis and prognosis .Methods The clinical data and peripheral blood samples were collected from the pa-tients with osteopetrosis ,DNA was extracted ,the whole exome sequencing library was built ,then the high throughput detection was performed and the pathogenic gene was screened by combining with the bioinformat-ics technology .Results The whole exomes in 2 cases of osteopetrosis were analyzed ,the average sequencing depth of the two samples were 169 .38X and 231 .06X respectively ,in which the case 1 carried rare mutation TCIRG1(c .1305+2T>C) ,TCIRG1(c .2008C> T ) and CLCN7(c .1116C> T );the case 2 carried a rare muta-tion CLCN7(c .857G>A ) .T he bioinformatics analysis indicated that the rare mutations carried by these cases all had different degrees of influence on the structure and function of gene products .Conclusion The whole exome sequencing can once screen the know n pathogenic mutations of osteopetrosis ,is an effective tool for pathogenic mutation screening of osteopetrosis ,the clinical disease in 2 cases of osteopetrosis may be closely related with the patient′s carrying TCIRG1 and CLCN7 mutation .

Combining Uniplate anterior cervical plate system with titanium cage to treat single level cervical spondylotic myelopathy / 中国医师进修杂志

Objective To explore the value of combining Uniplate anterior cervical plate system with titanium cage to treat single level cervical spondylotic myelopathy. Method Observing the clinical outcome and X-ray results of 32 patients with cervical spondylotic myelopathy undergone anterior decompression, autograft fusion and internal fixation with Uniplate anterior cervical plate system and titanium cage. Results All patients were followed up for 3 to 12 months. According to bony fusion criteria,no implants breakage, dislocation or loosening was found in all cases in 3 months' postoperatively radiological review. According to Odom classification,excellent outcome was 27 patients, good was 5 patients, the excellent and good rate was 100%(32/32). Conclusions Combining Uniplate anterior cervical plate system with titanium cage to treat single level cervical spondylotic myelopathy has advantages of easy manipulation,safe, less complication and higher fusion rate. It is an ideal way for cervical anterior fixation.

The significance of X-ray imaging in rehabilitation treatment of cervical spondylosis of vertebral artery type / 中华物理医学与康复杂志

Objective To characterize the x-ray image of vertebral artery type of cervical spondylosis and explore its significance in rehabilitation treatment. Methods The X-ray films of 42 cases of vertebral artery type of cervical spondylosis were measured and analyzed. The treatment approaches including restriction of cervical movement,traction,epidural block and surgery were planned and implemented accordingly. Results The X-ray image revealed the following changes in the patients: the straightened physiologic curvature of the cervical spine,cervical vertebral unsteadiness,zygapophyzeal joint hyperplasia. Various treatment approaches are effective to patients with various manifestations. Conclusion Employing treatment approaches on the basis of X-ray images is of great signi-ficance for the effective treatment of patients with cervical spondylosis of vertebral artery type.