BACKGROUND:In recent years,cervical facet joints have been paid more and more attention to the pathogenesis and surgical treatment of cervical spondylosis,but there are few anatomical studies on adult lower cervical facet joints. OBJECTIVE:To measure three-dimensional parameters of the lower cervical facet to provide a basis for the design of the lower cervical transarticular facet screw guide. METHODS:From June 2021 to June 2022,100 cases receiving cervical spine CT examination in the Affiliated Hospital of Xuzhou Medical University were selected,with 50 males and 50 females,aged 20-50 years.After screening,each image showed no cervical spinal stenosis,cervical disc herniation,obvious bone hyperplasia,infection or tumor.The sagittal inclination angle of each segment of the cervical spine facet joint and the angle between the lower cervical spine facet joint surface and the transarticular facet joint screw at the C3-7 levels were measured after 3D reconstruction.According to the measurement results of statistical analysis,a lower cervical transarticular facet screw guide was designed using CAD software. RESULTS AND CONCLUSION:The inclination angle of the cervical facet joint surface on the sagittal plane was distributed in a U-shaped shape centered on C5,and the magnitude relationship was C7>C6>C3>C4>C5.The relationship between transarticular facet screw angles on the sagittal plane was:C6/7>C5/6>C4/5>C3/4,where the angle of C3/4,C4/5 and C5/6 was close to 90°,and the angle of C6/7 exceeded 100°.By measuring the sagittal inclination angle of the cervical facet joint and the angle of the transarticular facet screw,this study designed a guide that was perpendicular to the lower cervical facet joint surface in the sagittal plane.

Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.