1.Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.
Guohua, YANG ; Shan, ZHONG ; Xianrong, ZHANG ; Biwen, PENG ; Jun, LI ; Tie, KE ; Hua, XU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2010;30(6):792-7
Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
2.The application of double balloon dilation in percutaneous kyphonplasty to vertebral compression fractures
Tiejun YANG ; Junlin ZHOU ; Qingxian TIAN ; Qinghe LIU ; Tie LU ; Hui ZHAO ; Yihan LI ; Lei SHAN ; Yang LIU
Chinese Journal of Orthopaedics 2016;(2):88-95
Objective To evaluate the clinical effectiveness of double balloon dilation in percutaneous kyphonplasty on curing vertebral?compression fractures. Methods From January 2009 to September 2013, 84 patients (94 vertebral bodies) with vertebral compression were treated by percutaneous kyphonplasty. All were fresh fractures and were injured or obvious low back pain 1 month, accompanied by local tenderness, kowtow attack painful, lumbar mobility, but no lower extremity injury numbness, activities and defecation disorders. After randomization, the double balloon dilation in percutaneous kyphonplasty method was used to treat 44 patients (49 vertebrae). In the process of performing percutaneous unilateral pedicle puncture and balloon dilata?tion of the vertebral body, the balloon has been moved some distance in the vertebral body. Then completed the perfusion of bone cement, vertebral body forming. 40 cases (45 vertebrae) were used conventional unilateral percutaneous kyphonplasty to vertebtal compression fractures. Recorded the operation time, amount of bleeding, bone?cement injection volume. Used visual analogue scale (VAS), the height of the vertebral body and Cobb angle to evaluated the curative effect. Results All 84 patients completed the operation, follow?up time was 22 months (18-24 months). In two mobile open expansion group, the operation time was about 48 min. The amount of bleeding was 8-15 ml. The average bone?cement injection volume was 5.1 ml. No patients quit the study and no bone cement?leakage cases or other side effects were observed , and no clinical accidents occurred. In a single stretching group, 40 cases (45 vertebrae) completed conventional vertebroplasty, the time of 44 min, bone cement average injection rate 3.2 ml, bleeding 10-15 ml. In two mobile open expansion group, the VAS score was 8.5 points, the height of the vertebral body height was 2.1cm, and the Cobb angle was 34°. After operation, the VAS score 2.9 points, the height of the vertebral body 2.8 cm, and Cobb 20° . In the other group, the pain was significantly relieved and the relief was satisfactor after operation.Vertebral height of 2 cm turned to the last follow?up of 2.4 cm. The Cobb angle was 32°, and the last follow?up was 27°. The VAS score, operation time and bleeding volume of the two groups were not statistically significant, and a statistically significant difference of the average bone ce?ment injection volume, postoperative vertebral height and cobb angle improved with statistical significance. A single open group were 2 cases of bone cement leakage and leakage, 1 cases of bone cement tail, the complication rate was 5.6%. Conclusion The application of double balloon dilation in percutaneous kyphonplasty to vertebral?compression fractures improve relocation of verte?bral compression fractures, increase recovery of vertebral height, and more effectively strengthen and stiffen pathological vertebral bodies, while improving kyphosis. Moreover, it can reduce pressure during bone?cement injections, minimizing the chance of over?flow and leakage, as well as the related side effects, but it will also result in an increase of bone cement?injection volume.
3.Kyphoplasty with movement and secondary enlargement of balloon for compression fracture of vertebral body with im-complete posterior wall
Tiejun YANG ; Shuxia PENG ; Junlin ZHOU ; Qingxian TIAN ; Qinghe LIU ; Tie LU ; Hui ZHAO ; Yihan LI ; Lei SHAN ; Yang LIU
Chinese Journal of Orthopaedics 2017;37(1):24-30
Objective To explore the clinical efficacy and indications of kyphoplasty with movement and secondary en?largement of balloon for the compression fracture of vertebral body with ruptured posterior wall. Methods A retrospective analy?sis was carried out on the data of 29 patients (10 males, 19 females;age range:55-86 years old;mean age:71 years old;29 verte?bral bodies in total) who suffered from compression fracture of the thoracolumbar spine and below, and underwent kyphoplasty through the movement and secondary enlargement of balloon within the vertebral body and were followed up from January 2011 to November 2014. These patients had backache, accompanied by lowered support, limitation of movement, no symptom of nervous lesion on both lower extremities and no past history of balloon kyphoplasty. All fractured vertebral bodies were at T 11 or below, in?cluding 1 case at T11, 4 cases T12, 11 cases L1, 9 cases L2 and 4 cases L3. The causes of injury included fall (19 cases), car accident (8 cases) and unknown reasons (2 cases). All patients underwent kyphoplasty with the movement and secondary enlargement of bal?loon within the vertebral body. Photos were taken immediately after the surgery, at 1 month, 3 months, 6 months and 12 months, and these patients were assessed and analyzed in terms of vertebral height, Cobb angle, visual analogue score (VAS) and Oswestry disability index (ODI). Results The operation time (including the formation and solidification of bone cement) of 29 patients was 40 to 65 min and the mean time was 55 ± 7 min;the blood loss during operation was 2 to 15 ml and the mean blood loss was 5 ± 2 ml;the injected volume of bone cement was 2.5-7.5 ml and the mean volume was 5.5±0.5 ml. Post?operative pain was relieved and ambulation was performed under the protection of lumbar orthosis brace. Statstical analysis was conducted on VAS, ODI, vertebral height and Cobb angle before operation and at 1 month, 3 months, 6 months and 12 months after operation, showing statistically significant differences. X ray examination found that there was no alternation or displacement of bone cement location, and no change in vertebral morphology, the vertebral height and cobb angle remained the post?operative status, and posterior wall rupture of the vertebral body was recovered well. CT revealed that the morphology of bone cement was irregular and closely integrated with bone substance, and no cavity or fissure was seen. Conclusion Kyphoplasty with movement and secondary enlargement of bal?loon within the vertebral body has a good, definite clinical efficacy in treating compression vertebral fracture with incomplete pos?terior wall of the vertebral body without obvious displacement of fractured bone and symptom of nervous lesion on both lower ex?tremities. This surgery is easy to operate, and has an immediate analgesic effect, which could recover vertebral height as well as re?duce kyphosis deformity and improve patient’s prognosis.
4.Effect of siRNA silencing the role of JNK gene in excessive endoplasmic reticulum stress on lung ischemia/reperfusion injury.
Mao-Lin HAO ; Shan ZHAO ; Hai-E CHEN ; Dan CHEN ; Dong SONG ; Jin-Bo HE ; Yang WANG ; Wan-Tie WANG
Chinese Journal of Applied Physiology 2014;30(1):48-53
OBJECTIVETo investigate the effect of siRNA silencing the role of C-Jun N-terminal Kinase (JNK) gene in excessive endoplasmic reticulum stress on lung ischemia/reperfusion injury.
METHODSMouse model of pulmonary ischemia reperfusion injury (PIRI) in situ was established with unilateral lung in vivo. Seventy experimental mice were randomly allocated into seven groups (n = 10): Sham group (Sham group), ischemia reperfusion group (I/R), PBS+ Lipofectamine2000TM transfection reagent group (I/R + PBS+ Lipo group), negative control group (I/R+ SCR group), JNK-siRNA group (I/R + siRNA(JNK1), siRNA(JNK2), siRNA(JNK3)). Mice were euthanized after experimental time out, and left lung tissue was extracted. Wet/dry lung weight ratio (W/D) and total lung water content (TLW) were tested. Light microscope, alveolar damage quantitative evaluation index (IQA) and electron microscope were observed. The expression levels of JNK and glucose regulatex protein(GRP78) were detected by RT-PCR and Western blot. Apoptosis of lung tissue was determined by TUNEL.
RESULTSCompared with Sham group, all indicators above of I/R + PBS + Lipo group and I/R + SCR group were significantly increased (P < 0.01), and compared with I/R group, those indicators of the three groups all had no notable difference; those indicators were not statistically different between I/R + PBS + Lipo group and I/R + SCR group, and compared to the three groups, the above indicators in JNK-siRNA group were lower (P < 0.05, P < 0.01) except that the expression levels of GRP78 was not statistically different.
CONCLUSIONI/R induces excessive ERS in lung tissue, in which JNK pathway participates in apoptosis, leading to lung tissue injury.
Animals ; Apoptosis ; Endoplasmic Reticulum Stress ; Heat-Shock Proteins ; metabolism ; JNK Mitogen-Activated Protein Kinases ; genetics ; Lung ; physiopathology ; Lung Injury ; genetics ; MAP Kinase Signaling System ; Mice ; RNA, Small Interfering ; Reperfusion Injury ; genetics
5.Prognostic value of devated baseline C-reactive protein and interleukin-6 levels on the vascular complications in percutaneous coronary intervention
Hui WANG ; Zhi-Jian YANG ; Jun HUANG ; Gen-Shan MA ; Tie-Bing ZHU ; Lian-Sheng WANG ; Ke-Jiang CAO ;
Chinese Journal of Emergency Medicine 2006;0(12):-
Objective To investigate whether elevated pre-procedural C-reactive protein (CRP) and Interleukin-6 (IL-6) concentrations may be relevant to early outcome in patients undergoing PCI.Method 100 consecutive patients undergoing pereutaneuous coronary intervention (PCI) were included in our study.Peripheral blood samples for CRP and IL-6 testing were withdrawn before PCI.Acute vascular complications resulted from PCI were determined by subsequently coronary angiography.The early coronary events during hospitalization were clinically followed.Results Thirty patients developed acute vessel occlusion,and another one developed subacute coronary thrombosis at 2 days after PCI.Increased levels of CRP correlated well with the occurrence of vascular complications as regards the significant difference existing amongⅠvsⅢandⅠvsⅣquartile groups,P
6.Sodium nitroprusside facilitates human sperm capacitation and acrosome reaction.
Mai-Gui YANG ; Yang YANG ; Ping HUANG ; Shan-Luan ZHENG ; Ai-Lin FAN ; Xiao-Dong CHENG ; Tie-Cheng ZHOU ; Juan LI ; Zhu-Ying ZHANG ; Xiao-Ke HAO
National Journal of Andrology 2005;11(6):422-425
OBJECTIVETo explore the effect of nitric oxide (NO) on human sperm capacitation and acrosome reaction (AR).
METHODSDifferent concentrations of sodium nitroprusside (SNP) were added to the sperm suspension from 48 healthy fertile men, and the suspension was incubated in 1 x Earle at 37 degrees C for 1 hour. Progesterone was used to induce AR for 15, 30, 45 and 60 min, and then acid phosphatase (ACP) activity in the suspension before and after capacitation and at different time of AR was measured by p-nitrophenyl sodium phosphate assay. In the meantime, sperm motile parameters were assayed by CASA to observe sperm capacitation and AR.
RESULTSACP activity and sperm motile parameters increased in the 50 approximately 100 nmol/L NO concentration group, showed no significant variation in the 150 approximately 200 nmol/L group, and decreased in the 250 approximately 300 nmol/L group.
CONCLUSIONNO can facilitate sperm capacitation, AR and sperm motile parameters in low concentration and suppress them in high concentration. ACP activity assay of sperm is an objective and reliable method to evaluate sperm capacitation and AR in whole sperm population.
Acid Phosphatase ; metabolism ; Acrosome Reaction ; drug effects ; physiology ; Adult ; Dose-Response Relationship, Drug ; Humans ; Male ; Nitric Oxide ; physiology ; Nitric Oxide Donors ; pharmacology ; Nitroprusside ; pharmacology ; Sperm Capacitation ; drug effects ; physiology ; Sperm Motility ; drug effects ; physiology ; Spermatozoa ; enzymology
7.Device implanted complications of Coflex interspinous dynamic stabilization.
Lei ZANG ; Yong HAI ; Qing-jun SU ; Shi-bao LU ; Cen-shan ZHANG ; Jin-cai YANG ; Li GUAN ; Nan KANG ; Xiang-long MENG ; Tie LIU ; Peng DU
Chinese Journal of Surgery 2012;50(9):782-787
OBJECTIVETo investigate device implanted complications and corresponding therapeutic strategies of Coflex interspinous dynamic stabilization system for lumbar spine intraoperatively and postoperatively.
METHODSFrom September 2008 to August 2010, 133 cases of degenerative disease of lumbar spine including 62 males and 71 females, ranging from 35 to 81 years of age (mean 60.8 years), underwent or planed to be underwent decompression with Coflex interspinous dynamic stabilization system were reviewed retrospectively, and 13 cases including 6 males and 7 females, ranging from 41 to 71 years of age (mean 58.6 years), occurred device implanted complications. The Coflex implanted complications were analyzed, and therapeutic strategies according to different character were carried out, scores of visual analogue scale (VAS), Oswestry disability index(ODI) and effect-related data preoperatively, postoperatively, after conservative treatment and in final follow-up were evaluated with paired-samples t test.
RESULTSThirteen cases of Coflex implanted complications and treatment applied included: 3 cases occurred fracture of spinous processes intraoperatively were treated by pedicle screws instead; 2 cases occurred fracture of spinous processes postoperatively or during follow-up, including 1 case underwent revision with pedicle screws, another 1 case treated with conservative treatment; 4 cases with degenerative coronal spondylolysis in surgical segments, 1 case with sagittal instability preoperatively, and 1 case with device dislodgment in follow-up all suffered aggravated pain and received conservative treatment; 1 case suffered implanted malposition intraoperatively was underwent internal fixation with pedicle screws instead; at length, 1 case with aggravated pain postoperatively and without definite reason received revision with internal fixation of pedicle screws demolishing the Coflex. The follow-up time of 13 cases ranged from 20 to 38 months (mean 27.6 months); and 7 cases implanted Coflex with aggravated pain of lumbar and lower limb, but the position of device can still maintained, were received conservative treatment, and whose score of VAS and ODI in the final follow-up were 1.9 ± 0.7 and 23.2 ± 3.4, and comparing to 6.1 ± 1.1 and 58.1 ± 3.0 preoperatively, evident improvement was got finally (t = 8.2 and 18.2, P < 0.01). Scores of VAS and ODI of 2 cases with Coflex implanted complications underwent revision with pedicle screws were also improved correspondingly.
CONCLUSIONSCoflex interspinous dynamic stabilization system implanted should be avoided to cases who suffered with osteoporosis, too narrow interspinous space and intervertebral coronal spondylolysis or sagittal instability; and choice of device, depth of implantation and intensity of clumping should be appropriate. For patients with symptom but device still in right position, conservative treatment can be carried out; but for patients subjected to malposition of device, failure of implantation intraoperatively or intolerance to device, revisions and salvages should be underwent with internal fixation of pedicle screws.
Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Internal Fixators ; adverse effects ; Intervertebral Disc Degeneration ; surgery ; Lumbar Vertebrae ; surgery ; Male ; Middle Aged ; Postoperative Complications ; Retrospective Studies ; Spinal Fusion ; adverse effects ; instrumentation ; methods ; Treatment Outcome
8.Short-term efficacy comparison of complete mesocolic excision and traditional colon cancer resection.
Tie WANG ; Ying-jiang YE ; Ya-mei HAN ; Zhi-dong GAO ; Peng GUO ; Xiao-dong YANG ; Ke-wei JIANG ; Mu-jun YIN ; Shan WANG
Chinese Journal of Gastrointestinal Surgery 2013;16(3):264-267
OBJECTIVETo investigate the short-term efficacy of complete mesocolic excision (CME).
METHODSClinical data of 62 cases of colon cancer (I-III phase) with radical resection including CME surgery group of 31 cases and traditional surgery group of 31 cases from January 2011 to October 2011 in Peking University People's Hospital were retrospective analyzed.
RESULTSThe number of removed lymph node in CME and traditional resection group was 22.5±1.8 and 17.6±1.3 respectively (P<0.05) and the positive rate of lymph node in mesentery root was 9.7% (3/31) in CME surgery group. Operative blood loss was (123.5±17.6) ml and (143.5±15.3) ml in CME and traditional resection group without significant difference (P>0.05). Except for more abdominal drainage volume of 3 days post-operation in CME group (P<0.05), the postoperative recovery indicators of postoperative drainage tube removed time, exhaust time, eating time, and the socioeconomic effects indicators of postoperative hospitalization, hospitalization costs were not significantly different between two groups (all P>0.05). Postoperative intestinal obstruction occurred in 3 cases and 4 cases, lymph fistula in 2 cases and 0 case, wound dehiscence in 1 case and 1 case in CME group and traditional resection group respectively. Postoperative complication rate was not significantly different (19.4% vs. 16.1%, P>0.05).
CONCLUSIONCompared with traditional radical surgery, CME sweeps lymph nodes more thoroughly, including lymph nodes of mesocolic roots, and does not affect postoperative recovery and increase the risk of postoperative complications.
Adult ; Aged ; Aged, 80 and over ; Colonic Neoplasms ; surgery ; Female ; Humans ; Lymph Node Excision ; Male ; Mesocolon ; surgery ; Middle Aged ; Retrospective Studies ; Treatment Outcome
9.Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.
Guohua YANG ; Shan ZHONG ; Xianrong ZHANG ; Biwen PENG ; Jun LI ; Tie KE ; Hua XU
Journal of Huazhong University of Science and Technology (Medical Sciences) 2010;30(6):792-797
Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.
Adult
;
Cataract
;
congenital
;
genetics
;
China
;
DNA Mutational Analysis
;
Female
;
Genes, Dominant
;
Humans
;
Male
;
Middle Aged
;
Pedigree
10.Application of Correspondence Analysis in the Analysis of Accidental Death of Chinese Residents.
Tie Shan YANG ; Zhao Xing LAN ; Zhi Yuan AN
Journal of Forensic Medicine 2021;37(4):533-538
Objective To study the preference relation between residence, sex, age and causes of accidental death of Chinese residents. Methods In this study, 72 residence-sex-age groups and 8 causes of accidental death were qualitatively and quantitatively analyzed by correspondence analysis using the official statistical yearbook issued from 2014 to 2018, and the preference values were calculated. Results Among the 576 pairs of correspondences between the residence-sex-age groups and causes of accidental death, 352 pairs (61.11%) showed a preference relation (preference value>0). In terms of residence and sex, accidental death preference among Chinese residents was higher in rural areas than in urban areas, and males were higher than females. In terms of the causes of accidental death, the overall risk of accidental mechanical asphyxia and motor vehicle accidents was the highest among all age groups of Chinese residents. In terms of age, with the increase of age, the preference value of accidental death of Chinese residents showed a trend of first increasing and then decreasing. The comparative analysis results of the preference values of various causes of accidental death in different age groups showed that motor vehicle traffic accidents, accidental poisoning, death by crush and electric shock were more likely to occur in the working age group between 20 and 59 years old, accidental fall and fire were more likely to occur in the elderly group over 80 years old, and drowning and accidental mechanical asphyxia were more likely to occur in the minor group between 1 and 19 years old. Conclusion There are different preference relations between residence-sex-age groups and causes of accidental death in China. Therefore, effective control strategies and measures should be formulated for Chinese residents with preference for accidental death.
Accidental Falls
;
Accidents, Traffic
;
Adult
;
Aged
;
Asphyxia/etiology*
;
China/epidemiology*
;
Drowning
;
Female
;
Humans
;
Male
;
Middle Aged
;
Young Adult