1.Analysis on the gene mutations of MYOC in primary open angle glaucoma pedigree
Xiaobing XIE ; Xin ZHOU ; Yanli TIAN ; Xiying QU ; Duoxiu KUANG ; Huibin ZHU ; Jingcheng YU ; Xingwang NING
Chinese Journal of Laboratory Medicine 2009;32(2):157-161
Objective To screen the mutations of MYOC gene in a Chinese primary open angle glaucoma (POAG) family from Cbengqing and investigate the relationship between the mutations in MYOC/TIGR gene and POAG.Methods In a large 4-generation glaucoma family, myocilin gene (MYOC) was screened in 39 family members, 8 of which were confirmed patients. Normal controls included 100 normal Chinese subjects.The known mutations of MYOC gene ( including G34C, C136T, G144T, G227A, C624G,G736A, C1009G, A1036G, C1081T, G1099A, G1138A, A1139C, T1430A, C1441A and C1442T) were detected by single strand conformation polymorphism(SSCP) , po]ymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing.Results G227A mutation was detected in 2 POAG patients and 1 asymptomatic patient, but not in the controls.Cl009del mutation was identified in all patients of the pedigree and an offspring member but not in the controls. No other mutations were detected.Since the C1009del mutation was revealed for the first time, a new GenBank number FJ237047 correponding to ACI62293 was applied.Conclusions The G227A mutation is a known site and there is no relationship between G227A mutation and glaucoma. But C1009del may be related to glaucoma which suggests that morbidity could be higher in the relatives of POAG than the controls.
2.Preliminary applications of the 3D-CTA assisted digital designing of the second toe transfers for the reconstruction of finger
Wen WU ; Tao LI ; Shicai FAN ; Jianwen LIAO ; Chengliang YANG ; Huibin XIE
Chinese Journal of Microsurgery 2013;36(5):455-459
Objective To investigate the clinical significance of the 3D-CTA (three-dimensional computed tomography angiography)assisted design of finger reconstruction the second toe.Methods Between June 2010 and January 2013,five patients with finger defect received 3D-CTA assisted finger reconstruction surgeries using the second toe.Preoperative ipsilateral foot and hand 3D-CTAs were conducted and the 3D digital models were analyzed.The accurate positions and adjacent relations of vessels in both donor and recipient site were precisely marked and then the calibers of the vessels were measured.Four cases received thumb reconstructions and 1 case received little finger reconstruction.All of these surgeries were second-stage.According to Gu Yudong's classification of finger defect:second degree 2 cases,third degree 2 cases,five degree 1 case(little finger).Results With the help of 3D-CTA,five patients in this group had no vascular crisis,and all fingers survived successfully.With 4-12 months' follow-up,the algesthesia and thalposis of the reconstructed fingers gained good recoveries.The two-point discrimination was 5-10 mm.Tthe range of flexion of interphalangeal joint was 10 °-30 °.The range of flexion of the metacarpophalangeal joints was 35 °-80 °.And all patients restored walking and bearing functions with 3 months after surgeries.Conclusion The 3D-CTA reconstruction based digital model of ipsilateral foot and hand can objectively reflect the real situation of the vessels in both donor sites and recipient sites (exist of variations,routes and the calibers of the vessels),thus improve the success rate of surgery.
3.Comparison of four kinds of internal fixation for acetabular fracture of the lower anterior column: a finite element analysis
Yuanyuan DAI ; Ying ZHANG ; Yuanjun XIA ; Huibin XIE ; Xiaoze GUO ; Changrong ZHU
Chinese Journal of Orthopaedic Trauma 2016;18(8):702-707
Objective To compare the biomechanical stability of 4 internal fixations in treatment of acetabular fracture of the lower anterior column through finite element analysis.Methods One normal adult male pelvis was subjected to 0.7mm thin-section CT scanning and 379 CT pictures were obtained.Finite element modeling software was used to establish internal fixation models for acetabular fracture of the lower anterior column,including lag screws (A),anterior column reconstruction plate (B),subcutaneous plate not crossing the pubic symphysis (C) and subcutaneous plate crossing the pubic symphysis (D).Finite element analysis was carried out to compare the biomechanical differences among the 4 internal fixation models which were subjected to the same loading conditions at both standing and sitting positions.Results At standing and sitting positions,the maximum displacement and the mean node displacement of fracture lines were the greatest in group A (0.558 mm and 0.462 ±0.092 mm at standing;0.634 mm and 0.473 ±0.108 mm at sitting),the smallest in group D (0.512 mm and 0.425 ±0.083 mm at standing;0.031 mm and 0.025 ± 0.004 mm at sitting),and in between in group B (0.513 mm and 0.432 ±0.085 mm at standing;0.630 mm and 0.466 ± 0.109 mm at sitting) and in group C (0.514 mm and 0.433 ± 0.085 mm at standing;0.627 mm and 0.464 ± 0.107 mm at sitting).At both standing and sitting positions,the maximum stress at the fracture line was the greatest in group D (10.519 MPa and 24.879 MPa),the smallest in group A (3.254 MPa and 8.954 MPa),and in between in group B (4.873 MPa and 9.431 MPa) and in group C (4.384 MPa and 10.128 MPa).Conclusions In treatment of acetabular fracture of the lower anterior column,subcutaneous plate crossing the pubic symphysis may result in the greatest biomechanical stability,lag screws the smallest biomechanical stability,and anterior column reconstruction plate and subcutaneous plate not crossing the pubic symphysis the moderate biomechanical stability.
4.The application of computer aided rapid prototyping technology in diagnosis and treatment of complicated pelvic fractures
Baofeng LI ; Ying ZHANG ; Huibin XIE ; Xiaoze GUO ; Fei WANG ; Hong. XIA
The Journal of Practical Medicine 2015;31(16):2714-2717
Objective To evaluate the value of computer aided rapid prototyping technology in diagnosis and treatment of complicated pelvic fractures. Methods Twenty-two patients of complicated pelvic fractures were examined by thin-slice CT to gain two-dimensional data of the pelvis. Three-dimensional reconstructions of anatomical models were accomplished by computer aided technology. By rapid prototyping technology , the pelvic models were rendered , by which diagnosis and typing of pelvic fractures were finalized for operation project , mimic operation and guiding the operation. Results Three-dimensional reconstruction images and rapid prototyping pelvic models were extremely similar to what doctors saw in the operations. Preoperative mimic operation shortened the time of operation and reduced the volume of bleeding in the operation. All 22 cases were available for review in follow-up period of 6 ~ 24 months. Patients could sit up in 2 ~ 4 weeks after surgery , and walk with a crutch 6 weeks later. Pelvic fractures reductions were good in 22 cases. According to the Majeed's functional criteria , 16 patients were judged excellent and 3 patients were good. The excellent and good rate was 86.4%. Conclusions Computer aided rapid prototyping technology can overall, direct-viewing, and exactly display the three-dimensional shape of pelvis and spatial relation of anatomic structures. It is important for definite clinic diagnosis , typing and treatment.
5.The significance of PCT and SAA detection in early childhood bacterial infection in preschool children
Xingwang NING ; Min SU ; Chun QIAN ; Xiaobing XIE ; Huibin ZHU
International Journal of Laboratory Medicine 2018;39(8):925-928
Objective To investigate the clinical significance of procalcitonin(PCT)and serum amyloid A (SAA)in early bacterial infection in preschool children.Methods 67 children with bacterial infection(bacte-rial infection group),62 children with viral infection(viral infection group)and 60 healthy children(healthy control group)were enrolled in this study,latex enhanced turbidimetric immunoassay was used to detect SAA and turbidimetric immunoassay was used to detect the level of PCT,the levels of SAA and PCT and the posi-tive rate were compared among all groups,and the sensitivity,specificity and positive predictive value,negative predictive value and Youden index of SAA and PCT levels.Results The levels of SAA and PCT in the bacte-rial infection group before treatment were significantly higher than those in the viral infection group and the healthy control group(P<0.05),7 days after treatment,the levels of SAA and PCT decreased significantly (P<0.05);the level of PCT in viral infection group was not significantly different from that in healthy control group(P>0.05),but the positive rate of SAA was significantly different from that of the healthy control group(P<0.05).The sensitivity,specificity,positive predictive value and negative predictive value of PCT for early bacterial infection in preschool children were 92.5%,93.5%,93.9%,92.1%,respectively,of the SAA values were 97.0%,59.7%,72.2% and 94.9%,respectively,there were significant differences between the two groups in specificity and positive predictive value(P<0.05).Conclusion Detection of SAA and PCT lev-els was helpful for early diagnosis,differential diagnosis and prognosis of bacterial infection in preschool chil-dren.