Objective To study the Secretor gene (FUT2) molecular structure of Uighur population in Xinjiang area,China. Methods DNA was extracted from 40 Uygur unrelated donors' blood and sequence analysis of FUT2 genes was performed. Results Four mutations in the FUT2 genes of Uighur donors have been identified. The frequencies of mutations were 71.25% for 357T, 28.75% for 357C,77.50% for 385A,22.50% for 385T,70% for 428G,30% for 428A,72.50% for 739G and 27.50% for 739A. Conclusion Based on the characteristics of FUT2 gene structure of Xinjiang Uighur,it cauld be thought that there are some relationships between Xinjiang Uighur, Taiwanese of China and Caucasiany.

Objective To isolate and identify exosomes from serum samples of the patients with polymyositis / dermatomyositis (PM/ DM),and analyze their protein composition preliminarily.Methods Exosomes from serum samples of the patients with PM/DM were isolated and purified by the ExoQuickTM kit.The morphological characteristics and particle size of exosomes were determined by transmission electron microscope (TEM) and NanoSight analyzer,respectively.The surface markers of exosomes such as CD9,CD81 and Flotillin-2 were identified by western blot.The concentration and composition of exosome protein were determined by the BCA method and SDS-PAGE,respectively.Results The exosomes from serum samples of PM/DM patients displayed round or oval vesicles with membrane structure under TEM,and their diameter range was about (92 ± 67) nm.western blot showed that these exosomes expressed CD9,CD81 and Flotillin-2.The total protein concentrations of exosomes in the patients with PM/DM and healthy controls were 14.68 (6.00,32.55) μg/μL and 14.09 (8.00,23.28) μg/μL,respectively.SDS-PAGE showed that high-abundance proteins enriched in 55-70 kD in both PM/DM patients and healthy controls,and that there were different bands in 40-55 kD between them.Conclusion Exosomes are isolated from serum samples of the patients with PM/DM successfully,and their protein concentration and composition are analyzed preliminarily,which provides the experimental evidences for further finding differential proteins.

Objective:To investigate the feasibility and safety of perimembranous ventricular septal defects (PmVSD) closure solely by femoral vein approach under transesophageal echocardiography (TEE) guidance.Methods:From January 1,2014 to May 31,2016,26 patients with PmVSD in Second Xiangya Hospital were selected,with age at 3.2-6.0 (4.3±0.7) years old and body weight at 15.0-19.5 (16.7±1.4) kg.The diameter of VSD was 3.5-4.8 (4.1±0.3) mm.All patients were treated by percutaneous PmVSD closure solely by femoral vein approach under TEE guidance.The effect of the procedure was evaluated by TEE and transthoracic echocardiography (TTE).The clinical follow-up study was conducted by TTE at 1,3,6 and 12 month (s) after the procedure.Results:Twenty cases were successfully treated with percutaneous PmVSD closure solely by femoral vein approach under TEE guidance,and the success rate was 76.9％.Six patients were converted to perventricular closure under TEE guidance because the guide wire in two cases or catheter in other cases could not pass through PmVSD.The diameter of symmetrical VSD occluder was 6.0-7.0 (6.2±0.4) mm.The procedural time was 12.0-64.0 (26.8±6.3) min.The residence time at ICU was 1.8-2.4 (26.8±6.3) h.The in-hospital time was 4.0-5.0 (4.4±0.5) d.There were 3 patients with immediate post-operative trivial residual shunt and incomplete right bundle branch block (IRBBB).All patients survived with no peripheral vascular injury or complications such as tricuspid regurgitation,pericardial tamponade and pulmonary infection.The residual shunt disappeared in 3 patients and IRBBB became normal rhythm in 3 patients at 1 month follow-up time point.No patients suffered from occluder malposition,residual shunt,pericardial effusion,arrhythmia (atrio-ventricular block),aortic valve regurgitation and tricuspid regurgitation.Conclusion:TEE-guided percutaneous PmVSD closureby femoral vein approach is safe and effective.

Objective To identify novel ABO allele in Chinese population. Methods The ABO blood group was tested by serological method, and then genotyped by sequence-specific primer (PCR-SSP) , gene cloning and sequence analysis. Results A healthy blood dornor who was diagnosed as having A2 subgroup and A2O1genotype was subjected to ABO gene cloning and sequence analysis. The haplotype-specific sequence analysis indicate that two single-base deletions, where G-deletion at nucleotide position 261 and A-deletion at nucleotide position 496 were determined in the O1 allele. The nucleotide sequence of the novelO1 allele were identical to ABO 0101 allele except for A-deletion at nucleotide position 496 in exon7 of ABO locus. Conclusion We defined this 0 allele as a novel O1 variant allele, and its registered number by GenBank is AY374123.

Objective To study the mutation of FUT1 and FUT2 genes in para-Bombay individual.Methods Direct DNA sequencing of FUT1 and FUT2 gene coding region were analyzed in two individuals with para-Bombay phenotype.Results One individual lost one of the three AG repeats located at nucleotides 547~552 of the FUT1 gene, whereas two of the three T repeats located at nucleotides 880~882 were deleted in the other.Conclusion Two frame-shift mutations of FUT1 gene are responsible for the H antigen deficiency

Objective To investigate the early surgical outcomes of 86 patients with complete atrioventricular septal defect.Methods Between January 2007 and December 2014,consecutive 86 cases received surgical repair in our department.There were 44 male patients,and 42 female patients.Two-patch repair was performed in 69 cases,and modified single-patch repair in 17 cases.The mean age,height,and weight at the time of operation were (32.3 ± 46.5)months with a range from 1 month to 17 years,(82.1 ±27.6) cm with a range from 53 to 165 cm,and (10.8 ± 8.7) kg with a range from 4.1 to 43 kg,respectively.Rastelli A type was found in 67 cases,B type in 15 cases,and C type in 4 cases.Down's syndrome was complicated in 6 cases.Preoperative mild regurgitation of common atrioventricular valve was shown in 32 cases,moderate regurgitation in 38 cases,and moderate to severe regurgitation in 16 cases.Mild pulmonary hypertension was observed in 15 cases,moderate in 54 cases,and severe in 17 cases.Results After operation,all patients were sent into intensive care units (ICU).The mean duration mechanical ventilation,ICU stay,and hospitalization were (30.9 ± 47.7) h with a range from 2.5 to 244 h,(87.7 ± 76.8) h with a range from 14 to 306 h,and (16.4 ±9.2)d with a a range from 6 to 50 d,respectively.We encountered 4 operatively mortalities (4.7％),including 3 in two-patch repair group,and 1 in modified single-patch repair group.The cause of death was mitral regurgitation.Conclusions Modified single-patch and two-patch technique have a satisfied early outcomes.

ObjectiveTo investigate the misdiagnostic reason and treatment of the syndrom of splenic flexure of colon(SSFC). MethodsThe clonical data of 21 patients with SSFC admitted from May 1993 to May 2001 were retrospectively analysed. ResultsThese patients aged from 51 to 88 years old with a median age of 67.8years.Clinical manifestalion was repetitive stomach pain, abdominal distension, constipation, etc. Double contrast radiology of colon demonstrated that too high fixation site of colon of splenic flexure, volvulus of colon of splenic flexure, and displacement of colon usually occurred together with transverse or sigmoid colon redundant.All of them were cured by cololysis of colon of splenic flexure, redundant partial colectomy and managing other companying diseases.Postoperative pathological diagnoses were chronic colitis.Followed up was done for 6 months to 6 years, all of them released from primary symptoms. ConclusionsThe main misdiagnostic reason of SSFC is less understanding of SSFC and did not take double contrast radiology of colon. By way of cololysis of splenic flexure, redundant colon resection and managment other companying abdominal diseases, most patients with SSFC may expect satisfactory treatment effects.

OBJECTIVE: To investigate the characters and surgical treatment methods of anomalous drainage of left superior vena cava to left atrium. METHODS: Clinical data of 8 cases were analyzed retrospectively.The patients aged from 6 months to 168 months with weight between 6 and 29 kg. RESULTS: The associated cardic lesions existed in all patients: 4 had partial atrioventricular septal defect (PAVSD),including 1 coronary sinus orifice atresia (CSOA), 1 ventricle septal defect (VSD), 1 ventricle septal defect associated with right ventricular outlet tract stenosis (VSD/RVOTS), and 1 atrial septal defect (ASD) and complete atrioventricular septal defect (CAVSD), respectively.No patient died. Preoperation diagnosis was in 1 case, intraoperation diagnosis in 5 cases,and postoperation diagnosis in 2 cases due to reoperation for hypoxemia.Three patients were repaired by intratrium tunnel, and the other 5 were managed by extracardic shunt. CONCLUSION This lesion is easily missed in preoperation diagnosis,which can be avoided by awareness and careful inspection.The methods for management of anomalous drainage of left superior vena cava to left atrium depend on time of diagnosis and experience of surgeons.
Adolescent ; Cardiac Surgical Procedures ; methods ; Cardiopulmonary Bypass ; Child ; Child, Preschool ; Female ; Heart Atria ; abnormalities ; Heart Defects, Congenital ; complications ; surgery ; Heart Septal Defects, Ventricular ; complications ; surgery ; Humans ; Infant ; Male ; Retrospective Studies ; Vena Cava, Superior ; abnormalities ; surgery

Objective:To evaluate the feasibility and safety of device closure of patent ductus arteriosus (PDA)using only venous access under echocardiography guidance alone.Methods:A total of 102 consecutive pediatric patients underwent transcatheter PDA closure without arterial access,under the guidance of only echocardiography.The patients were followed up by clinical examination,electrocardiogram,and echocardiogram at 1,3,6 12,and 24 months.Results:Transvenous PDA closure under echocardiographic guidance was successful in 99 (97.1％)patients.There were no acute procedural complications or severe adverse events.The duration ranged from 10 to 65 minutes (median,21 minutes).Immediate complete closure of PDA was achieved in 87 patients (87.9％),and 100％ of the patients were completely closed after 24 h.There were no severe adverse events in the period of 1-24 months (median,12 months) follow up.Conclusion:Transvenous PDA closure without fluoroscopy avoids radiation exposure,contrast agent usage and potential arterial complications.It can be used as an alternative procedure,especially for children.

OBJECTIVE: To introduce peratrial device closure of secundum atrial septal defects (ASD) under the guidance of transesophageal echocardiography (TEE) without cardiopulmonary bypass (CPB) in children, and to summarize the clinical experiences. METHODS: A total of 115 children with secundum ASD (the occlusion group) underwent peratrial device closure of atrial septal defects through a small sternotomy under TEE guidance without cardiopulmonary bypass. Children were followed up closely for 1-13 months. Another 59 children (the bypass group) had closed atrial septal defects under cardiopulmonary bypass during the same period. The differences in the operation duration, convalescence and complication between the 2 groups were compared. RESULTS: Except 1 patient was operated under the CPB, the rest 114 patients in the occlusion group were successfully closed by the occluders. The duration of the operation, mechanical ventilation, intensive care and hospitalization, and the rate of blood-transfusion in the occlusion group were significantly lower than those in the bypass group (P<0.01), with no difference in complications in the 2 groups (P>0.05). CONCLUSION Minimally invasive peratrial device closure of ASD without CPB is a relatively simple, safe and effective operation under the guidance of TEE for children. The short and mid-term clinical outcomes are promising. Long-term follow-up is indispensable.
Child ; Child, Preschool ; Echocardiography, Transesophageal ; methods ; Female ; Follow-Up Studies ; Heart Septal Defects, Atrial ; diagnostic imaging ; surgery ; Humans ; Infant ; Male ; Minimally Invasive Surgical Procedures ; methods ; Septal Occluder Device ; Ultrasonography, Interventional