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1.
Iranian Journal of Pediatrics. 2014; 24 (2): 223-225
in English | IMEMR | ID: emr-196771
2.
Chinese Journal of Cardiology ; (12): 830-833, 2012.
Article in Chinese | WPRIM | ID: wpr-326410

ABSTRACT

<p><b>OBJECTIVE</b>To compare the efficacy between micro invasive occlusion procedure and extracorporeal circulation procedure for treating patients with simple ventricular septal defect.</p><p><b>METHODS</b>Two hundred and twenty patients with simple ventricular septal defect (except subarterial ventricular septal defect) were randomly divided into micro invasive group (n = 116) and traditional cardiopulmonary bypass surgery group (n = 104). Clinical data were collected and compared at baseline and at 3, 30 and 180 days after surgery.</p><p><b>RESULTS</b>Age, gender, body weight and ventricular septal defect type were similar between the two groups (all P > 0.05). Operation time and hospitalization duration were significantly shorter in the micro invasive group than the traditional cardiopulmonary bypass surgery group (all P < 0.05). The proportion of blood transfusion was less in micro invasive group than the traditional cardiopulmonary bypass surgery group [2.59% (3/116) vs. 72.12% (75/104), P < 0.01]. Three days after surgery, incidence of mild and above tricuspid insufficiency was less in micro invasive group than the traditional cardiopulmonary bypass surgery group [0.86% (1/116) vs. 2.88% (3/104), P < 0.05]. There was one patient developed mild pericardial effusion at 30 days post surgery in micro invasive group. There was no intracardiac infection in the two groups during follow-up. At 30 and 180 days post surgery, incidence of residual shunt was also less in micro invasive group than the traditional cardiopulmonary bypass surgery group [1.72% (2/116) vs. 7.69 (8/104) and 0(0/116) vs. 7.69(8/104), all P < 0.05]. After surgery for 3, 30 and 180 days, transthoracic echocardiography derived chamber size, left ventricular end-diastolic volume index and left ventricular ejection fraction were similar between the two groups (all P > 0.05).</p><p><b>CONCLUSIONS</b>The efficacy is similar for patients with simple ventricular septal defect (except subarterial ventricular septal defect) using micro invasive occlusion therapy or extracorporeal circulation surgery. Micro invasive occlusion procedure can shorten operation and hospitalization time, and reduce the need for blood transfusion and risk of developing procedural-related tricuspid insufficiency and post-procedural residual shunt.</p>


Subject(s)
Child , Child, Preschool , Female , Humans , Male , Cardiac Catheterization , Methods , Extracorporeal Circulation , Heart Septal Defects, Ventricular , General Surgery , Minimally Invasive Surgical Procedures , Treatment Outcome
3.
Chinese Journal of Cardiology ; (12): 984-988, 2011.
Article in Chinese | WPRIM | ID: wpr-268272

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the feasibility, safety and efficacy of transesophageal echocardiography (TEE) and transthoracic echocardiography (TTE) guided coated stent-graft implantation for patients with Stanford B aortic dissection.</p><p><b>METHODS</b>In 5 patients with CT confirmed Stanford B aortic dissection, TEE and TTE were used to determine the parameters for pre-surgery diagnosis and selection of suitable coated stent. During surgery, TEE and TTE provided real-time and dynamic monitoring and guiding for precise implantation of the coated stent to effectively seal the tear of the aortic dissection. After surgery, efficacy of implanted coated stent was evaluated by TTE.</p><p><b>RESULTS</b>In all 5 patients, the coated stents were successfully implanted in the true lumen, a small distal tear was not covered in 1 case. Displacement of stent-graft or new endoleak was not observed at follow-up examinations performed at 3 months post-surgery. There were no aortic perforation, renal failure, paraplegia or other complications. The medians of left ventricular ejection fraction (LVEF) in 2 days before surgery, 1 month post-surgery and 3 months post-surgery are 59.9%, 67.4% and 68.1% and the medians of fraction shortening (FS) are 31.4%, 33.7% and 39.1%. Compared with 2 days before surgery, significant increase of LVEF and FS was observed in 1 month post-surgery and 3 months post-surgery (all P < 0.05).</p><p><b>CONCLUSION</b>Our results showed that echocardiography guided coated stent-graft implantation for patients with Stanford B aortic dissection was safe and effective with lower risk of complications.</p>


Subject(s)
Aged , Female , Humans , Male , Middle Aged , Aortic Dissection , Diagnostic Imaging , General Surgery , Blood Vessel Prosthesis Implantation , Methods , Echocardiography , Echocardiography, Transesophageal , Feasibility Studies , Stents
4.
Chinese Journal of Contemporary Pediatrics ; (12): 267-272, 2009.
Article in Chinese | WPRIM | ID: wpr-347940

ABSTRACT

<p><b>OBJECTIVE</b>To examine the number and function of circulating endothelial progenitor cells (EPCs) in children with cyanotic congenital heart diseases (CHD) and study their correlation with serum levels of vascular endothelial growth factor (VEGF) and stromal cell derived factor-1 (SDF-1).</p><p><b>METHODS</b>Fifteen children with tetralogy of Fallot (cyanotic group) and 15 age-and sex-matched children with ventricular septal defect (control group) were enrolled. Serum levels of VEGF and SDF-1 were measured using ELISA. Mononuclear cells were isolated from peripheral blood by Ficoll density gradient centrifugation and cultured in vitro. EPCs were identified by immunofluorescence and were counted under a microscope. Modified Boyden chamber assay and the MTT assay were used to measure the migration and proliferation capacities of EPCs. EPCs adhesion ability assay was performed by replating cells on fibronectin-coated dishes, and then adherent cells were counted. The correlations of serum levels of VEGF and SDF-1 with the number and function of circulating EPCs were assessed by linear regression analysis.</p><p><b>RESULTS</b>Serum levels of VEGF (201.42+/-44.74 ng/L vs 113.56+/-35.62 ng/L; P<0.05) and SDF-1 (3.45+/-1.07 ng/L vs 1.05+/-0.99 ng/L; P<0.05) in the cyanotic group were higher than those in the control group. There was a positive correlation between serum levels of VEGF and SDF-1(r=0.675, P<0.01). The number of EPCs (*200 field) in the cyanotic group significantly increased compared with that of the control group (72.2+/-9.73 vs 51.2+/-3.83; P<0.01). The functional activities of EPCs, including proliferation, migration and adhesion capacities, were augmented in the cyanotic group compared with those in the control group. The increased number and function of EPCs and the increased serum levels of VEGF and SDF-1 were consistent in the cyanotic group, with a correlation coefficient of 0.8395, 0.5491, 0.6376 and 0.7392 respectively.</p><p><b>CONCLUSIONS</b>The number and functional activity of EPCs as well as serum levels of VEGF and SDF-1 increased in children with cyanotic CHD. Serum levels of VEGF and SDF-1 were correlated to the number and functional activity of EPCs. Serum VEGF and SDF-1 together with circulating EPCs may play important roles in the pathology and physiology in these patients.</p>


Subject(s)
Humans , Chemokine CXCL12 , Blood , Physiology , Cyanosis , Blood , Endothelial Cells , Cell Biology , Physiology , Heart Defects, Congenital , Blood , Stem Cells , Physiology , Vascular Endothelial Growth Factor A , Blood , Physiology
5.
Chinese Journal of Contemporary Pediatrics ; (12): 315-318, 2008.
Article in Chinese | WPRIM | ID: wpr-252090

ABSTRACT

<p><b>OBJECTIVE</b>This research reported the experience of early surgical treatment for infants with large atrial septal defects (ASD) or ventricular septal defects (VSD) complicated by pneumonia.</p><p><b>METHODS</b>Between January 2003 and January 2008, 39 infants with large ASD or VSD complicated by pneumonia were admitted to the Second Xiangya Hospital. Thirty-six patients underwent surgical repair within 7-10 days after pneumonia had been controlled. Mean age was 5.4+/-3.4 months and mean weight was 4.7+/-1.6 kg in the 36 patients. Three patients received conservative treatment due to uncontrolled lung infections.</p><p><b>RESULTS</b>Of the 36 patients, 33 had successful surgery and 3 (8.3%) died of serious low cardiac output (n=1) or respiratory failure due to congenital tracheostenosis (n=2). The 33 survivors showed normal growth and development in a 6 month-5 year follow-up. Of the 3 patients receiving conservative treatment, 1 died of cardiopulmonary failure and 2 were discharged after the symptoms had been improved.</p><p><b>CONCLUSIONS</b>With increasing medical experience and technique, early surgical operation may be performed with good outcomes in infants with large ASD or VSD complicated by pneumonia.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Heart Septal Defects, Atrial , General Surgery , Heart Septal Defects, Ventricular , General Surgery , Pneumonia , Postoperative Complications
6.
Chinese Medical Journal ; (24): 1694-1699, 2007.
Article in English | WPRIM | ID: wpr-255524

ABSTRACT

<p><b>BACKGROUND</b>Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China. Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives.</p><p><b>METHODS</b>After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR) gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA.</p><p><b>RESULTS</b>Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G > A substitution at the third nucleotide of codon 165. The other, IVS5-1G > A, was also a G > A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G > A. The cDNA sequencing showed that the IVS5-1G > A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA, between exon 5 and exon 6.</p><p><b>CONCLUSIONS</b>The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.</p>


Subject(s)
Adult , Child , Female , Humans , Male , DNA, Complementary , Hyperlipoproteinemia Type II , Genetics , Mutation , Pedigree , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Receptors, LDL , Genetics
7.
Journal of Central South University(Medical Sciences) ; (12): 1080-1084, 2007.
Article in Chinese | WPRIM | ID: wpr-813946

ABSTRACT

OBJECTIVE@#To explore the early diagnosis of acute respiratory distress syndrome (ARDS) and the mechanical ventilation treatment in operations of cardiopulmonary bypass.@*METHODS@#Thirty-four patients with acute respiratory distress syndrome were divided into the traditional ventilation strategy plus positive end expiratory pressure (PEEP) group (n=13) and the protective ventilation strategy group (n=21), and their diagnosis and treatment were reviewed.@*RESULTS@#The average ventilator-carrying time in the protective ventilation strategy group and the traditional ventilation strategy plus PEEP group was (4.8+/-2.1) and (7.2+/-3.6) days,and the mortality was 23.8% and 61.5% respectively. There was statistical significance in the 2 groups (P<0.05).@*CONCLUSION@#The key to ARDS is the early diagnosis and ventilation strategy. Protective ventilation strategy in treating ARDS is more effective than the traditional ventilation strategy plus PEEP, and it can obviously shorten the ventilator-carrying time and reduce the mortality of ARDS.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Cardiopulmonary Bypass , Respiration, Artificial , Methods , Respiratory Distress Syndrome , Therapeutics , Retrospective Studies
8.
Journal of Central South University(Medical Sciences) ; (12): 328-332, 2007.
Article in Chinese | WPRIM | ID: wpr-813883

ABSTRACT

OBJECTIVE@#To analyze the multiple factors affecting the postoperative mechanical ventilation supporting time in infants less than 10 kg with simple congenital heart diseases and to seize time by the forelock of extube and improve the outcome of surgical treatment.@*METHODS@#Data of 231 infants less than 10 kg with atrial septal defect(ASD),ventricular septal defect, and combining patent ductus arteriosus were retrospectively analyzed. The multivaricate stepwise logistic regression statistics were done for the predisposing factors affecting the ventilative supporting time.@*RESULTS@#The ventilative supporting time was 3~375 (average 23.5 h) h. The multivaricate stepwise logistic regression analysis indicated that severe pulmonary hyperpressure, cross-cramp aortic time, cardiopulmonary bypass time, preoperational pulmonary infection, membrane oxygenator, modified ultrafiltration, weight, and postoperative complications were significantly correlated to the ventilative supporting time.@*CONCLUSION@#Severe pulmonary hyperpressure, preoperational pulmonary infection, long cross-cramp aortic time, long cardiopulmonary bypass time, postoperative complications all prolong the ventilation supporting time; the use of membrane oxygenator and modified ultrafiltration during the operation and big weight can diminish the pulmonary complications and shorten the ventilation supporting time.


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Cardiopulmonary Bypass , Ductus Arteriosus, Patent , General Surgery , Heart Defects, Congenital , General Surgery , Heart Septal Defects, Atrial , General Surgery , Heart Septal Defects, Ventricular , General Surgery , Logistic Models , Multivariate Analysis , Postoperative Period , Respiration, Artificial , Retrospective Studies , Time Factors
9.
Journal of Central South University(Medical Sciences) ; (12): 542-545, 2007.
Article in English | WPRIM | ID: wpr-813844

ABSTRACT

OBJECTIVE@#To summarize the surgical treatment of total anomalous pulmonary venous connection (TAPVC).@*METHODS@#We retrospectively analyzed 49 patients with TAPVC as follows: 37 patients with supra-cardiac type in which 35 received anastomoses between the rear wall of the left atrium and the common pulmonary vein and the other 2 received anastomoses between the rear edge of the left atrium roof and the common pulmonary vein; another 12 patients with cardiac type who were incised the upper edge of coronary sinus, connected the common junction of pulmonary veins with the left atrium to form a new left atrium, and repaired the atrial septal defect with a pericardial patch.@*RESULTS@#Forty-six patients recovered and 3 patients died. Thirty-eight patients were followed-up from 3 months to 8 years. The rest patients got fluent pulmonary vein drainage and their heart function resumed to NYHA I.@*CONCLUSION@#TAPVC patients should be operated on immediately at definite diagnosis. The fluency of the common pulmonary vein-left atrium anastomoses and proper postoperative care can ensure a satisfactory outcome.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Anastomosis, Surgical , Pulmonary Veins , Congenital Abnormalities , General Surgery , Retrospective Studies
10.
Journal of Central South University(Medical Sciences) ; (12): 599-603, 2007.
Article in Chinese | WPRIM | ID: wpr-813833

ABSTRACT

OBJECTIVE@#To observe the structural and hemodynamic changes after the reconstruction of right ventricular outflow tract (RVOT) with valved bovine jugular vein conduit (BJVC) in the canine model by color Doppler echocardiography (UCG).@*METHODS@#BJVC was used in the reconstruction of RVOT of 32 canines. UCG was used to observe the structure of the right ventricle and RVOT. The structure and hemodynamics were observed, and the diameter, width, blood velocity and pressure gradient (PG) were measured between the right ventricle and the conduits.@*RESULTS@#In the first stage, UCG showed that PG between the right ventricle and BJVC was high in 5 canines, and a few anastomosis in BJVCs with main pulmonary artery was small. Blood velocity quickened and PG increased, and color Doppler showed that the bloodstream was very bright. In the second stage, 7 canines survived for 1 year after the implantation. One year after the operation, UCG showed that the valve closed well, no graft kinking or obvious regurgitation of the valve was observed. The PG of the valve was low. The BJVCs were unobstructed and there was no thrombus.All the valves of BJVC opened well except one. In the third stage, 20 canines survived for 1 year after the implantation. UCG showed that the valve motion was good, no graft kinking or obvious regurgitation of the valve was observed. No neoplasm was observed.@*CONCLUSION@#UCG is one of the most useful measurements in the structural and hemodynamic study of RVOT reconstruction by BJVC in the canine model. The good evaluation of UCG implies that it is important for the study and clinical practice.


Subject(s)
Animals , Cattle , Dogs , Female , Male , Blood Vessel Prosthesis , Echocardiography, Doppler, Color , Heart Ventricles , Diagnostic Imaging , General Surgery , Hemodynamics , Jugular Veins , Diagnostic Imaging , Transplantation , Pulmonary Artery , Diagnostic Imaging , General Surgery
11.
Journal of Central South University(Medical Sciences) ; (12): 313-318, 2006.
Article in English | WPRIM | ID: wpr-813707

ABSTRACT

OBJECTIVE@#To create a method for transfecting human vascular endothelial growth factor165 (hVEGF165) gene into bone marrow mesenchymal stem cells (MSCs) in rats.@*METHODS@#MSCs of Wistar rats were isolated by density gradient centrifugation and purified based on their ability of adhesion to plastic. Detections of cell surface antigens, including CD34, CD45, CD44, and SH3, were performed using flow cytometry. MSCs' potential of differentiating into osteoblast and lipoblast in vitro was tested. The vector pcDNA(3.1)-hVEGF165 was transfected into MSCs with the liposome mediated method. The expression of hVEGF165 in the transfected cells was detected by enzyme linked immunosorbent assay (ELISA), reverse transcription-polymerase chain reaction (RT-PCR), and Western blot analysis.@*RESULTS@#The cultured MSCs were CD34-, CD45-, CD44+ , and SH+, which were differentiated into osteoblasts and lipocytes successfully. The expressed hVEGF165 in the transfected rat MSCs was demonstrated.@*CONCLUSION@#The vector pcDNA(3.1)-hVEGF165 is successfully expressed in MSCs.


Subject(s)
Animals , Humans , Rats , Antigens, CD34 , Bone Marrow Cells , Cell Biology , Cell Differentiation , Physiology , Cells, Cultured , Hyaluronan Receptors , Leukocyte Common Antigens , Mesenchymal Stem Cells , Cell Biology , Metabolism , Rats, Wistar , Transfection , Vascular Endothelial Growth Factor A , Genetics
12.
Journal of Central South University(Medical Sciences) ; (12): 413-416, 2005.
Article in Chinese | WPRIM | ID: wpr-813547

ABSTRACT

OBJECTIVE@#To determine the lung protection of continuous pulmonary artery perfusion with oxygenated blood during cardiopulmonary bypass (CPB).@*METHODS@#Thirty patients undergoing mitral valve replacement were randomly divided into the control group (n=15) and the lung perfusion group (n=15). The patients in the lung perfusion group were perfused oxygenated blood continuously to the pulmonary artery during CPB. The patients in the control group were performed the routine procedure of mitral valve replacement. Record the CPB time, aortic cross-clamp time, mechanical ventilation time and ICU monitoring time. The patients' oxygen index (OI) and lung static compliance (Cstat) were measured before the surgery, at 0 h after the CPB and at 0, 6 h after the surgery. Right lung biopsy specimens were obtained at 30 min after the CPB to observe the histological changes. Results The mechanical ventilation time and ICU monitoring time were shorter in the lung perfusion group than those in the control group (P < 0.05). The patients' OI and Cstat were higher after surgery in the lung perfusion group than those in the control group (P < 0.05). Tissue examination showed lung parenchyma edema and inflammatory cells accumulated in the control group, while no remarkable pathological changes occurred in the lung perfusion group.@*CONCLUSION@#Lung injury exists after the surgery by CPB. Continuous pulmonary artery perfusion with oxygenated blood during CPB can decrease the lung injury.


Subject(s)
Adult , Female , Humans , Male , Cardiopulmonary Bypass , Methods , Heart Valve Prosthesis Implantation , Oxygen , Blood , Perfusion , Methods , Postoperative Complications , Pulmonary Artery , Pulmonary Circulation , Reperfusion Injury
13.
Journal of Central South University(Medical Sciences) ; (12): 221-223, 2005.
Article in Chinese | WPRIM | ID: wpr-813398

ABSTRACT

OBJECTIVE@#To summarize the experience of diagnosis and surgical treatment of ventricular septal defect with patent ductus arteriosus.@*METHODS@#We retrospectively analyzed the clinical data of 102 cases of ventricular septal defect combined with patent ductus arteriosus who underwent surgical treatment. Preoperative ultrasonic cardiogram (UCG) showed ventricular septal defect combined with patent ductus arteriosus in 82 cases and ventricular septal defect in 20 cases.@*RESULTS@#The hospital mortality was 4.9% (5/102). The reasons for death included low cardiac output syndrome (1 case), pulmonary hypertension crisis (2 cases) and respiratory failure (2 cases). In the remaining patients,the perioperative complications included lung infection (7 cases), pulmonary atelectasis (5 cases), hydrothorax (1 case), and pulmonary hypertension crisis (2 cases); and all the 15 patients recovered lastly. The pulmonary hypertension of all living patients decreased to some degree. The therapeutical effectiveness was satisfactory.@*CONCLUSION@#Ventricular septal defect with patent ductus arteriosus is easy to be confused with ventricular septal defect clinically. At the same time,it is diffcult to form a correct diagnosis in some patients by UCG preoperatively. To prevent the occurrence of perfusive lung, it is important to reinforce preoperative diagnosis and exploration during operation. Because pulmonary hypertension in patients with ventricular septal defect with patent ductus arteriosus emerges early and develops quickly, it tends to result in organic pulmonary hypertension which can make patients lose operation chances and influence the long-term therapeutical effect. Surgical operation should be performed as soon as possible. Optimal operative timing and proper perioperative management play important roles in surgical results.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Abnormalities, Multiple , Diagnosis , General Surgery , Cardiac Surgical Procedures , Ductus Arteriosus, Patent , Diagnosis , General Surgery , Heart Septal Defects, Ventricular , Diagnosis , General Surgery , Retrospective Studies
14.
Journal of Central South University(Medical Sciences) ; (12): 328-330, 2005.
Article in Chinese | WPRIM | ID: wpr-813369

ABSTRACT

OBJECTIVE@#To summarize the experience of surgical treatments of partial atrioventricular septal defect in 60 patients.@*METHODS@#From April 1999 to April 2004, 60 patients of partial atrioventricular septal defect were operated. Fifty-eight patients were performed with suture of the cleft of mitral valve and the other 2 were given mitral valve replacement; For closure of primum ASD, 53 patients with pericardial patches and 7 with Dacron patches. Coronary sinus was baffled to left atrium with kirklin procedure in 35 cases and baffled to right atrium with McGoon procedure in other 25 cases. Correct the accompanying cardiac deformity at the same time.@*RESULTS@#The hospital mortality was 3.3% (2/60) due to low cardic output syndrome. The incidence rate of complete atrioventricular block was 8.00% (2/ 35) in the group with Kirklin procedure and 6.06% (2/25) in the group with McGoon procedure. There was no statistical significance between the 2 groups (P > 0.05). The follow-up was from 1 month to 5 years, and there was no late death. All cardiac function were improved except middle mitral regurgitation in 1 patient.@*CONCLUSION@#Reasonable operative design, refined procedures, avoiding damage to conducting bundles and proper perioperative management are the key points in improving theraeutic effect.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Cardiac Surgical Procedures , Methods , Follow-Up Studies , Heart Septal Defects, Atrial , General Surgery , Retrospective Studies
15.
Chinese Journal of Medical Genetics ; (6): 97-100, 2004.
Article in Chinese | WPRIM | ID: wpr-329390

ABSTRACT

<p><b>OBJECTIVE</b>To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.</p><p><b>METHODS</b>Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced. The reverse transcriptase-polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA.</p><p><b>RESULTS</b>The disease-causing gene of the family was linked to the EXT2 locus on chromosome 11. A mutation IVS2+1G>A was detected in EXT2 and resulting in 221 bp deletion from 316 to 536 of coding sequence(CDS), which was co-segregated with the disease phenotype. This change led to deletion from codon 106 to codon 178 and subsequent 2 nucleotides, producing a frameshift and truncated protein of 125 aa.</p><p><b>CONCLUSION</b>The mutation IVS2+1G>A is the disease-causing mutation in the Chinese pedigree with hereditary multiple exostoses.</p>


Subject(s)
Female , Humans , Male , Exostoses, Multiple Hereditary , Genetics , Genes, Tumor Suppressor , Genetic Linkage , Mutation , N-Acetylglucosaminyltransferases , Genetics , Reverse Transcriptase Polymerase Chain Reaction
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