PROSI Mutation With Clinical Heterogeneity in Protein S Deficiency:Report of One Case / 中国医学科学院学报

Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient's mother.After searching against the PROS1 gene mutation database and the relevant literature,we confirmed that this mutation was reported for the first time internationally.

Effect of health management service for hypertension patients under framework of Basic Public Health Service Project: a regression discontinuity design / 中华流行病学杂志

Objective: To evaluate the effect of health management service on hypertension patients (HMSFHP) under the framework of the Basic Public Health Service Project by using regression discontinuity design. Methods: The participants were enrolled from an observational cohort survey in 2015 and followed up was conducted in 2019. The participants with SBP 130-150 mmHg and/or DBP 80-100 mmHg in the baseline survey of the cohort in 2015 were included in the present study. Additionally, we obtained the dates of participants receiving HMSFHP and their blood pressure data from follow-up records, physical examination records and telephone interview. The participants were divided into intervention group and control group based on the cutoff points, i.e. SBP ≥140 mmHg and/or DBP ≥90 mmHg. The local linear regression model were used to estimate the effect of HMSFHP on reducing blood pressure of the participants. Results: After adjusting for age, sex and time length of receiving HMSFHP, the results of the model including participants with 80-100 mmHg for DBP in 2015 indicated that, for the participants who received HMSFHP, the DBP decreased by 6.66 mmHg from 2015 to 2019. For the participants with SBP 130-150 mmHg in 2015, the reduction estimate of the model was -6.17 mmHg, the difference was not significant (P=0.178), suggesting that receiving HMSFHP did not cause change in SBP for the participants who received HMSFHP. Conclusion: Receiving HMSFHP had effect to reduce DBP, and HMSFHP had a positive effect on the control of blood pressure in patients with hypertension.

Advances on the study of movable artificial vertebral body / 中国骨伤

At present, artificial vertebral implants have proven to be effective in the treatment of spinal tumors, infections, fractures and other diseases. However, the fusion artificial vertebral body can cause adjacent intervertebral joint degeneration and loss of original physiological curvature and activity. The movable artificial vertebral body can, to some extent, restore the normal physiological movement and reduce biomechanical changes of the spine, reducing the occurrence of complication. The design of movable artificial vertebral body is to equip movable device when the basis of reliable stability is obtained. According to its principle it can be divided into ball socket joint or elastic deformation. However the overall design of movable artificial vertebral body needs further improvement. Traditional mechanical processing methods are difficult to process complex prostheses and the agreement rate between traditional produced prostheses and lesions was low. While the emerging 3D printing technology can achieve individualized improvement of prosthesis, its slow rate and high cost need to be improved. The materials of movable artificial vertebral body includes metal, ceramics, biomaterials, high polymer materials and so on. Titanium alloy is the main material in metal materials, which is widely used, but its modulus of elasticity is still far from that of human bone and it lacks ideal bone fusion. Ceramic materials are rich in variety but fragile and poor in wear resistance. Biomaterials include autogenous bone, allogeneic bone, etc., with limited source and complicated operation. There are many kinds of polymer and biodegradable materials which obtain excellent and ideal properties. But their properties and applications need to be further studied. The movable artificial vertebral body still needs to be promoted and developed. The clinical experimental data is still insufficient, and long-term curative effect needs to be further observed and studied. This paper reviews the development, advantages, design, processing and materials of movable artificial vertebral bodies and provides useful reference for optimization design, processing and clinical application of movable artificial vertebral bodies.