1.A novel mutation in the LSS gene caused congenital hypotrichosis type 14 in a Chinese family
Xiangqian LI ; Yongping ZHAO ; Mengxi ZHAO ; Cheng ZHOU
Chinese Journal of Dermatology 2023;56(7):672-676
		                        		
		                        			
		                        			Objective:To report a patient with congenital hypotrichosis 14 complicated by hypergonadotropic hypogonadism, and to analyze LSS gene mutations in his family.Methods:Peripheral blood samples were collected from the proband and his parents with normal phenotypes, and genomic DNA was extracted from these samples. Second-generation sequencing was performed to screen suspected mutations among hereditary hair disorder-associated genes. Possible causative genes were identified from the screened suspected variants based on clinical phenotypes, and verified using Sanger sequencing. The identified variants were also verified in healthy controls, and searched in the Human Gene Mutation Database, 1000 Genomes Project database, and ExAC database.Results:The patient harbored a homozygous missense mutation c.812T>C (p.Ile271Thr) in exon 8 of the LSS gene, and his parents were the mutation carriers. The variant was not present in healthy controls and databases.Conclusion:The homozygous mutation c.812T>C in the LSS gene may be the causative mutation for congenital hypotrichosis 14 in this family, which was a novel mutation that had not been reported before.
		                        		
		                        		
		                        		
		                        	
2.Research and application of magnetic resonance coordinate transformation method for brain control technology of carp robots.
Yong PENG ; Tingting WANG ; Zhanqiu WANG ; Dan DU ; Jinglong LI ; Xiaoxiao HAN ; Jianing LIU ; Aidi WANG ; Xiangqian ZHOU
Journal of Biomedical Engineering 2018;35(6):845-851
		                        		
		                        			
		                        			To solve the problem of precise positioning of carp brain tissue coordinates, it is proposed in this paper for a method for transforming the coordinates of magnetic resonance imaging of carp brain tissue into the coordinates of electrode implantation using a brain stereotaxic apparatus. In this study, the 3.0T magnetic resonance imaging instrument was used to scan the carp brain. We independently established the three-dimensional positioning coordinate system of the brain, the three-dimensional coordinate assistance system of skull surface and the three-dimensional coordinate assistance system in brain tissue. After two coordinate transformations, the magnetic resonance image coordinates of the brain electrodes implantation sites were converted into the three-dimensional stereotactic coordinate system to guide the electrodes implantation. The experimental groups were divided into two groups, A and B. Group A was the group of magnetic resonance imaging apparatus combining with the brain stereotaxic apparatus, and group B was the group of brain atlas combining with the brain stereotaxic apparatus. Each group had 20 tails of carps ( = 20). This two methods were used to implant the electrodes into the cerebellar motor area. The underwater experiments of the carp robots were carried out to test the two methods. The results showed that the accuracy of the implanted electrodes were 90% in group A and 60% in group B. The success rate of group A was significantly higher than that of group B ( < 0.05). Therefore, the new method in this paper can accurately determine the coordinates of carp brain tissue.
		                        		
		                        		
		                        		
		                        	
3.Comparison of long-term effect between minimally invasive and open approaches in one-level posterior lumbar inter-body fusion: a 10-12 year prospective study
Haifeng ZHU ; Zhijie ZHOU ; Xiangqian FANG ; Jianfeng ZHANG ; Fengdong ZHAO ; Xing ZHAO ; Zhijun HU ; Chao LIU ; Shunwu FAN
Chinese Journal of Orthopaedics 2018;38(20):1273-1284
		                        		
		                        			
		                        			Objective To compare the long-term effect between minimally invasive (MIS) and open approaches in one-level posterior lumbar interbody fusion (O-PLIF) after more than 10 years follow up. Methods All 131 patients (lumbar spine le-sions) in our hospital were randomized into MIS-PLIF group and O-PLIF group from March 2006 to March 2008. In MIS-PLIF group, there are 66 patients, 34 males and 32 females, with the average of 52.3 ± 6.7 years old (range from 40 to 63). In O-PLIF group, there are 65 patients, 29 males and 36 females, with the average of 51.1 ± 6.9 years old (range from 46 to 63). Regarding March 2018 as last follow-up, differences in intervertebral disc height and segmental lordosis restoration of the operation segment , lumbar lordosis restoration, multifidus cross section area (CSA), multifidus atrophy rate, fusion rate, visual analogue scale (VAS) for back and leg pain, Oswestry Disability Index(ODI), Japanese Orthopaedic Association cores (JOA) and postoperative long-term compli-cations were evaluated between the two groups. The related risk factors of postoperative long-term complications were evaluated in further analysis. Results Complete follow-up data were available on 37 patients in MIS-PLIF group and 35 patients in O-PLIF group, with the follow-up rate of 56.1%and 53.8%respectively,and with the mean follow-up time of 134.5 ±8.4 and 137.1±5.8 months respectively. At three time nodes of one year after operation, five years after operation and last follow-up after operation, there were significant differences in lumbar lordosis restoration (one year after operation and last follow-up after operation)( 5.0°± 2.3° vs. 3.9°±1.4°;4.7°±2.4° vs. 3.7°±1.5°), multifidus CSA (965.4±164.9 mm2 vs. 884.9±168.2 mm2;891.1±155.9 mm2 vs. 783.2± 163.0 mm2; 764.8 ± 148.3 mm2 vs. 643.5 ± 150.0 mm2), multifidus atrophy rate (8.5%± 2.5% vs. 16.6%± 5.8%; 15.6%± 3.5% vs. 26.2%±7.4%;27.6%±6.5%vs. 39.3%±9.3%), postoperative VAS for back pain (2.2±1.0 vs. 2.9±1.2;1.7±0.9 vs. 2.2±1.0;1.4±1.0 vs. 2.2±1.2), JOA score (22.3±3.8 vs. 19.9±4.2;23.1±4.3 vs. 19.3±3.9;22.4±4.2 vs. 19.6±4.0) and ODI (11.6%±4.8%vs. 22.0%± 7.7%;9.4%±3.9%vs. 12.3%±4.9%;8.6%±4.0%vs. 11.0%±4.6%) between the two groups (P<0.05). However, there were no sig-nificant differences in segmental lordosis, intervertebral height restoration, lumbar lordosis restoration (one year after operation), fusion rate or postoperative VAS for leg pain between MIS-PLIF and O-PLIF(P>0.05). Intractable back pain and adjacent segment disease were the major postoperative long-term complications for MIS-PLIF group (3 cases and 2 cases) and O-PLIF group (10 cas-es and 7 cases), and the difference was statistically significant in the intractable back pain incidence rate ( 8.5%vs. 28.6%,χ2=5.090, P=0.024), but not in the adjacent segment disease(5.4%vs. 20%,χ2=0.002, P=0.061). What's more, patients with intracta-ble back pain suffered more obviously multifidus atrophy than patients without intractable back pain at three time nodes of one year after operation (19.4±4.4%vs. 10.9±5.1%, P<0.05), five years after operation (30.2±5.4%vs. 18.7±6.7%, P<0.05) and last fol-low-up after operation (44.5±5.7%vs. 30.8±8.9%, P<0.05) . Conclusion In the long-term follow up, compared with O-PLIF, MIS-PLIF had advantages in better maintenance of lumbar lordosis, protection of the multifidus muscle, reduced lower back pain, JOA score, ODI score and intractable back pain incidence rate. Multifidus atrophy may be a related risk factor of intractable back pain.
		                        		
		                        		
		                        		
		                        	
4.Prevention and treatment for complications in the application of new technology for stomach cancers.
Xiangqian SU ; Chuanyong ZHOU ; Hong YANG
Chinese Journal of Gastrointestinal Surgery 2017;20(2):148-151
		                        		
		                        			
		                        			With the rapid advancement of minimally invasive new technology, laparoscopic surgery and robotic surgery are now regarded as the main direction in surgical treatment for stomach cancers. Recent evidence has confirmed the safety and feasibility of laparoscopic surgery for early gastric cancer and advanced gastric cancer. However, gastrointestinal surgeons should pay more attention to complications after laparoscopic gastrectomy because of rich blood supply, complex tissue layers and lymph node metastasis. Common complications related to laparoscopic surgery are associated with laparoscopic instruments and operating, intra-abdominal bleeding, anastomotic leakage, anastomotic bleeding, pancreatic leakage, duodenal stump leakage, lymphatic leakage and so on. This article mainly focuses on the causes, prevention and treatment of the complications after laparoscopic gastrectomy.
		                        		
		                        		
		                        		
		                        			Anastomotic Leak
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		                        			Duodenal Diseases
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		                        			Female
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		                        			Gastrectomy
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		                        			adverse effects
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		                        			instrumentation
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		                        			methods
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		                        			Humans
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		                        			Laparoscopy
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		                        			adverse effects
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		                        			instrumentation
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		                        			methods
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		                        			Lymphatic Metastasis
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		                        			Male
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		                        			Postoperative Complications
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		                        			etiology
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		                        			prevention & control
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		                        			therapy
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		                        			Robotic Surgical Procedures
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		                        			adverse effects
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		                        			instrumentation
		                        			;
		                        		
		                        			methods
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		                        			Stomach Neoplasms
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		                        			complications
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		                        			surgery
		                        			
		                        		
		                        	
5.Early complications associated with oblique lateral interbody fusion in the treatment of degenerative lumbar diseases
Jiying WANG ; Zhijie ZHOU ; Shunwu FAN ; Xiangqian FANG ; Fengdong ZHAO ; Jianfeng ZHANG ; Xing ZHAO ; Zhijun HU ; Junhui LIU ; Yanyan WANG
Chinese Journal of Orthopaedics 2017;37(16):1006-1013
		                        		
		                        			
		                        			Objective To evaluate the early clinical outcomes and complications of oblique lateral interbody fusion (OLIF) in the treatment of degenerative lumbar diseases.Methods All of 83 patients,29 males and 54 females with ages from 32 to 83 (average 60.8± 13.7 y),underwent OLIF with or without posterior pedicle screw-rod instrumentations from October 2014 to February 2017.The index diagnosis was discogenic back pain in 17 cases,spondylolisthesis in 23,lumbar spinal canal stenosis in 25,and degenerative lumbar spinal kyphoscoliosis in 18 cases.The distribution of operative level was 5 at L1,2,13 at L2,3,38 at L3,4,and 69 at L4,5.The mean number of fusion level for each case was 1.5 segments.The operative duration,blood loss during operation,intra-operative and post-operative complications,the length of post-operative hospital stay were recorded.Clinical outcomes were evaluated using visual analogue scale (VAS) and Oswestry disability index (ODI).All patients were followed up for at least 3 months.Lumbar X-ray and CT scans were taken and the clinical outcomes were re-assessed during follow-up.Results Fifty-one in the 83 patients underwent supplementary posterior pedicle screw-rod instrumentation with OLIF procedures.The operation lasted for 43-295 min,with a mean duration of (153 ± 72) min.Mean operation time for each OLIF segment was 43± 12 min.Blood loss during the operation was 30-800 ml,with a mean of 125±74 ml.Mean blood loss for each OLIF segment was 27±13 min.Average length of stay was 5.6 ± 3.2 d,ranging from 3-15 d.The VAS for back pain and leg pain and ODI scores were decreased apparently for each patient.The total incidence of complications was 22.9% (19/83),including 6.0% (5/83) of intra-operative complications (4 cases of cage subsidence,1 case of segmental artery injury) and 16.9% (14/83) of post-operative ones.The latter consisted of ipsilateral hip flexor weakness in 6,ipsilateral anterolateral thigh pain in 2,ipsilateral lateral thigh numbness in 1,contralateral pain in flexion of hip in 1,ipsilateral sympathetic chain injury in 2,and pain in area of iliac bone donor site in 2.All symptoms were released or disappeared during follow-up.Conclusion OLIF as a novel minimally invasive technique can act as a safe and effective treatment for degenerative lumbar diseases,which can also reduce approach-related complications.
		                        		
		                        		
		                        		
		                        	
6.The indirect decompression effect of oblique lateral interbody fusion in the treatment of degenerative lumbar stenosis
Lingzhi DING ; Shunwu FAN ; Zhijun HU ; Xiangqian FANG ; Fengdong ZHAO ; Jianfeng ZHANG ; Xing ZHAO ; Zhijie ZHOU ; Junhui LIU ; Yanyan WANG
Chinese Journal of Orthopaedics 2017;37(16):965-971
		                        		
		                        			
		                        			Objective To investigate the indirect decompression effect of oblique lateral interbody fusion (OLIF) in the treatment of mild to moderate degenerative lumbar stenosis.Methods From October 2014 to November 2016,23 patients with mild to moderate lumbar spinal stenosis underwent OLIF combined with or without posterior pedicle screw fixation;9 males and 14 females with average age of 59.2±11.6 years old;8 cases at L3,4 segment and 15 cases at L4,5 segment.All cases were followed up for more than 6 months.Thin layer scanning of CT and two-dimensional reconstruction images were used to measure the vertical diameter and area of intervertebral foramen.Intervertebral disc height and spinal canal anteroposterior diameter were measured on median sagittal MRI sequence,and the anteroposterior diameter and the cross-sectional area of the spinal canal were measured on cross-sectional MRI sequence.The clinical effects were assessed by the visual analogue score (VAS) and the Oswestry disability index (ODI) for low back pain,lower limb pain and lower limb numbness.Results Compared with those measurements pre-operatively,the post-operative intervertebral disc height increased by 78.6%±13.4%.The post-operative left vertical diameter of intervertebral foramen increased by 36.7%±7.8%,and the post-operative left area of intervertebral foramen increased by 36.6%± 8.7%,and the post-operative right vertical diameter of intervertebral foramen increased by 40.7%±9.6%,and the post-operative right area of intervertebral foramen increased by 40.0%±8.9%.The post-operative anteroposterior diameter of sagittal spinal canal were increased 32.6% ± 5.9%,and the post-operative anteroposterior diameter of cross-sectional spinal canal were increased 34.4%±6.8%,and the post-operative cross-sectional area of the spinal canal were increased 47.5%±7.2%.All of the differences were statistically significant between pre-operative and post-operative measurements.The VAS score for low back pain was 6.2± 1.7 pre-operatively,and 1.1±0.5 post-operatively.The ODI for low back pain was 81.2%± 18.2% pre-operatively,and 6.1%±2.0% post-operatively.The VAS score for lower limb pain was 5.6±1.4 pre-operatively,and 0.8±0.3 post-operatively.And the VAS score for lower limb numbness was 6.6±2.0 pre-operatively,and 3.4± 1.2 post-operatively.All of the differences were statistically significant between pre-operative and post-operative evaluations.Conclusion There were obvious radiological evidences and remarkable clinical effect of indirect decompression using OLIF technique in treatment of mild to moderate lumbar spinal stenosis at early post-operative stage.However further long-term follow-up studies with multicenter large sample were still needed.
		                        		
		                        		
		                        		
		                        	
7.Clinical value of oblique lateral interbody fusion in the treatment of adult degenerative scoliosis
Xing ZHAO ; Shunwu FAN ; Xiangqian FANG ; Fengdong ZHAO ; Jianfeng ZHANG ; Zhijun HU ; Zhijie ZHOU ; Junhui LIU ; Yanyan WANG
Chinese Journal of Orthopaedics 2017;37(16):989-996
		                        		
		                        			
		                        			Objective To evaluate the clinical outcomes of oblique lateral interbody fusion (OLIF) in the treatment of adult degenerative scoliosis (ADS).Methods From January 2015 to May 2016,17 ADS patients,4 males and 13 females were enrolled with ages from 46 to 80 (average 69.5±9.2 years).The Cobb angle of all was greater than 10°.According to Lenke-Silva classification systems:Ⅰ level,2 cases,decompression alone;Ⅱ level,2 cases,decompression and limited instrumented spinal fusion;Ⅲ levels,4 cases,decompression and lumbar curve instrumented fusion;Ⅳ levels,5 cases,decompression with anterior and posterior spinal instrumented fusion;Ⅴ level,4 cases,thoracic instrumentation and fusion extension.The operation time,blood loss,blood transfusion,and preoperative and postoperative complications were recorded.Clinical and radiological outcomes were evaluated using visual analogue scale (VAS),Oswestry disability questionnaire (ODI) scores,sagittal vertical axis (SVA) and coronal Cobb.All cases were followed up in 3,6,12 and 24 months.Results All of 17 cases underwent OLIF,one level 4 cases,two levels 2 cases,three levels 7 cases and four levels 4 cases.Alone OLIF was 5 cases (2 case of Ⅰ level,1 case of Ⅱ level,1 case of Ⅲ level and 1 case of Ⅳ level).OLIF combined with posterior approach was 12 cases and the interval time were 1-2 weeks,the mean were 1.7±0.5 weeks.Among these 12 cases,posterior fixation was 6 cases,posterior fixation and decompression was 2 cases,and L5/S1 interbody fusion was 4 cases.The operation lasted for 50-460 min,with a mean duration of 230.6± 132.0 min.Blood loss during the operation was 30-640 ml,with a mean of 306.5±213.8 ml.No patient had blood transfusion.The follow-up was 12-28 months and the mean was 17.9±4.5 months.The preoperative Cobb angles were 16.2°-37.7°,the mean was 29.1°±6.4°.The postoperative Cobb angle were 1.5°-10.2°,and the mean were 5.6°±2.4°.The Cobb of all cases improved significantly.The SVA was returned to the normal level in 4 cases of Lenke-Silva V level.The VAS and ODI score decreased from 7.1 ±0.7 preoperatively to 2.4±0.9 at last follow-up,and from 37.9±2.5 to 10.9±3.0,respectively,and both of them were improved significantly.2 cases of OLIF had cage malposition.Left hip flexor weakness occurred in 5 cases and recovered completely within 2 weeks.Left anterior thigh pain occurred in 1 case and disappeared within 2 weeks.Left sympathetic chain injury happened in 1 case and recovered at last follow-up.Conclusion OLIF as a management of ADS showed excellent short-term outcomes.Clinical and radiological results,such as VAS,ODI and Cobb angle,were improved in all cases.OLIF will be a good choice for the treatment of ADS.
		                        		
		                        		
		                        		
		                        	
8.Reliable morphological parameters for the assessment of discoid lateral meniscus in adults:an MRI study
Xiaoxin SUN ; Wei ZHOU ; Shuping ZUO ; Hao LIU ; Hao LIU ; Jingfeng SONG ; Xiangqian YU ; Yan ZHANG ; Chunyu LIANG ; Liu ZHANG
Chinese Journal of Tissue Engineering Research 2016;20(24):3535-3540
		                        		
		                        			
		                        			BACKGROUND:Currently, the morphologic changes of the discoid lateral meniscus (DLM) remain unclear, and morphological indexes used to evaluate the injuries of DLM stil need to be explored. OBJECTIVE:To compare the MR imaging difference between symptomatic and asymptomatic DLM in adults, and to select reliablemorphologicalparametersfor assessing DLM. METHODS:A total of 36 patients (36 knees) with a symptomatic DLM (study group)and 34 patients (34 knees) with an asymptomatic DLM (control group) were included in this study. GE Healthcare Centricity RIS/PACKS System was used to measure the primary morphological parameters of two patients with DLM on coronal MR imaging. Intergroup comparison was performed with the Wilcoxon test. RESULTS AND CONCLUSION:On the coronal MR imaging, the width of the body portion and height of the free edge of the DLM was significantly increased in the study group compared with the control group (P< 0.001), while the height of the peripheral portion which connects with the capsule of the DLM was significantly decreased in the study group compared with the control group (P= 0.002). The heightof the middle of the DLM and the width of the lateral femoral condyle showed no significant differences between the both groups (P> 0.05). The width ratio of the body of the DLM to the lateral femoral condyle and the height ratio of height of the free edge to the middle of the DLM were significantly increased in thestudy group compared with the control group (P< 0.001), while the height ratio of the peripheral portion to the middle for the DLM was significantly decreased compared with the control group (P< 0.001). These findings suggest that compared with asymptomatic discoid lateral meniscus, the width of the body portion and the height of the free edge for the DLM are increased;however,the height of the peripheral portion which connects with the capsule of the DLM is decreased. The width ratio of the body portion of the DLM to the lateral femoral condyle and the height ratio of the free edge to the middle for the DLM may be reliable morphological parameters for the assessment of the DLM in adults.
		                        		
		                        		
		                        		
		                        	
9.Modified anterior approach for treatment of ulnar coronoid process fracture
Ren ZHU ; Junming ZHOU ; Xing ZHAO ; Xiangqian FANG ; Shunwu FAN ; Wenjun YU
Chinese Journal of Trauma 2015;31(5):431-434
		                        		
		                        			
		                        			Objective To investigate the clinical effect of modified anterior approach to manage fracture of the ulnar coronoid process via the space of brachial artery and vein with median nerve.Methods From June 2012 to January 2013,11 patients with ulnar coronoid fracture were fixed via the modified anterior approach.The operation time,intraoperative blood loss and postoperative complications were recorded.Flexion and rotation range of motion about the injured and normal elbow were observed during postoperative follow-up period.Function of elbow joint was evaluated by mayo elbow performance index (MEPI).Results There was approximate 8 cm in length and 5 cm in width between the brachial vessels and median nerve.Operated angle from radial to ulnar side was fifty degrees and from proximal to distal end was sixty degrees.All the patients were available for follow-up.The fracture healed,that is the elbow flexion restored [(130.7 ±5.0) °] was 96.6% of the unaffected elbow,elbow extension restored [(7.6 ± 8.1) °] was 84.0% of the unaffected elbow,pronation restored [(86.9 ± 3.8) °] was 98.2% of the unaffected side,and supination restored [(85.6 ± 6.0) °] was 96.7% of the unaffected side.MEPI of the elbow joint was over 75 points.Conclusion Modified anterior approach is relatively safe and simple in operation and results in satisfactory function recovery of the elbow joint,providing a new surgical approach for treatment of coronoid process fracture.
		                        		
		                        		
		                        		
		                        	
10.The correlation between bone mineral density and surgical outcomes of lumbar degenerative spondylolisthesis
Xing ZHAO ; Ke ZHOU ; Yan MA ; Xiangqian FANG ; Fengdong ZHAO ; Wenbin XU ; Shunwu FAN
Chinese Journal of Orthopaedics 2014;34(1):33-38
		                        		
		                        			
		                        			Objective To observe the correlation between bone mineral density (BMD) and surgical outcomes of posterior lumbar interbody fusion (PLIF) for lumbar degenerative spondylolisthesis (DS).Methods From January 2006 to December 2010,69 patients with DS had undergone PLIF by the same surgical team.According the BMD,the cases were divided into two groups.Normal group (T ≥-1.0) had 33 cases [Male 16 cases,Female 17 cases; mean age,(56.5±9.0) yrs; L,,5 20 cases,L5S1 13 cases].The osteopenia group (T <-1.0) had 36 cases [Male 13 cases,Female 23 cases; mean age,(60.5±7.8) yrs; L4.5 21 cases,L5S1 15 cases].Blood loss,surgical duration,intra-and post-operative complications were collected.The clinical improvement was quantified by measurement of pain (visual analogue scale,VAS) and Roland-Morris (RM) Disability Questionnaire.Between two groups,the differences of age,body mass index,blood loss,VAS improvement,and RM improvement were compared.The correlation between BMD and sex,age,segment,screw loose,nonunion,and cage subsidence was analyzed.Results In two groups,the difference between pre-and post-operative RM and VAS was significant respectively.The blood loss was 415.5± 105.8 ml in normal group,significantly less than 528.3±128.7 ml in osteopenia group.There was no significant difference in the duration between normal group (169.7±44.3 min) and osteopenia group (176.4±42.6 min).The improvement of VAS and RM between two groups had no significant difference.There was a negative correlation between the BMD and blood loss (r=-0.407,P=0.001).The other surgical outcomes (surgical duration,VAS improvement,RM improvement,cage subsidence,nonunion,screw loose and etc.) had no correlation with BMD.Conclusion There is a negative correlation between the BMD and blood loss in DS patients managed by PLIF.BMD has no effect on other surgical outcomes.
		                        		
		                        		
		                        		
		                        	
            
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