Objective To analyze genetic and clinical features of 14 children with ?-thalassemia intermedia in Guangxi area.Methods ?-thalassemia genes,?-thalassemia genes,single nucleotide polymorphism(SNP) at position-158 of()~G?-globin gene,AT repeats polymorphisms of DNase I-hypersensitive site 2 of the ?-globin gene cluster locus control region(?-LCR-HS2) were detected by PCR techniques.Clinical data were analyzed.Results Genotype:1.Seven cases were homozygous or compound heterozygous for nt-28(A→G).Among them,2 cases′ genotypes were nt-28/nt-28,1 case was ?~E/ nt-28,2 cases were ?~0/nt-28,1 case(?~0/nt-28) co-inherited()~G?158(T) and 1 case(?~0/nt-28) co-inherited simultaneously()~G?-158(T) and——SEA ?-thalassemia-1 genes.2.Three cases with ?~0/?~0 presented()~G?-158(T),and other 3 cases co-inherited——SEA ?-thalassemia-1 genes.3.One patient with ?~0/?~0 co-inherited()~G?-158(T) and——SEA ?-thalassemia-1 genes.4.Six cases carrying()~G?-158(T) had(AT)_9 N_(12)(AT)_(10) sequences in ?-LCR-HS2.Phenotype:The values of Hb,MCV,HbF of 14 patients were(75.9?9.7) g/L,(68.9?5.9) fL,66.9%?16.3%,respectively.Except for 2 cases with genotypes of nt-28/nt-28 and 1 case with ?~E/nt-28 who had never been transfused,the others had more severe symptoms and required irregularly transfusion.Conclusions In the 14 children with ?-thalassemia intermedia from Guangxi area,nt-28(A→G),()~G?-158(T) and——SEA ?-thalassemia-1 gene are main alleviating gene factors.Incidence of(AT)_9 N_(12)(AT)_(10) sequence in ?-LCR-HS2 in these patients is high.Patients who are homozygous for nt-28 or compound heterozygous for ?~E have milder phenotypes.

Objective To evaluate the feasibility of cell free fetal DNA(cffDNA)-based noninvasive prenatal diagnosis,we developed a precise technique for fetal sex determining region of Y chromosome(SRY)gene detection using size-fractionated cell-free DNA in maternal plasma.Methods Peripheral blood samples were collected form 117 pregnant women.cffDNA was extracted based on a column absorbent method and isolated by agarose gel electrophoresis.A dulex-polymerase chain reaction(PCR)was used to detected SRY gene and glycerol-dehyde-phosphate dehydrogenase(GAPDH)gene.Results Both SRY and GAPDH gene were detected in 86 cffDNA samples from women bearing male fetuses.And only GAPDH gene was detected in 71 cffDNA samples from women bearing female fetuses.These results had a coincidence whit those of villus or amniotic fluid samples.The specificity and sensitivity reached 100%(117/117)and 100%(66/66),respectively.Conclusion By agarose gel electrophoresis,re-extratedand and dulex PCR,size-fractionated cell-free fetal DNA in maternal plasma can be selective enriched and used to noninvasive prenatal diagnosis of sex-linked disorders and single gene disorders.

Objective To study the analgesia effect and adverse reactions of epidural and subcutaneous multimodal analgesia in thoracotomy esophageal cancer resection operation .Methods Forty patients undergoing elective esophageal cancer resection op‐eration were randomly divided into the epidural and subcutaneous analgesia group (group A) and the subcutaneous analgesia group (group B) ,20 cases in each group .The group A adopted 0 .15% ropivacaine and 0 .00002% sufentanil by continuous pumping infu‐sion before and during operation for continuous analgesia ,then intravenous tramadol was given before closing chest ,tramadol and sufentanil subcutaneous patients self‐control analgesia (PCA)were used after operation for analgesia .The group B was given intra‐venous tramadol before closing chest ,then tramadol and sufentanil patient subcutaneous controlled analgesia after operation were used for analgesia .The scores of the visual analogue scale(VAS) ,comfort scale ,sedative scores ,dose of analgesics ,pressing fre‐quency and pressing frequency ratio of PCA ,vital signs and adverse reactions were assessed at different time periods .Results The VAS scores and pressing frequency of PCA at rest and movement in the group A were remarkably decreased compared with the group B ,while the comfort status score and pressing frequency ratio of PCA were obviously increased ,the differences were statisti‐cally significant(P<0 .05);the occurrence rates of adverse reactions such as the vital signs ,sedative scores ,nausea ,vomitting ,skin itch ,chest distress after operation had no statistically significant differences between the two groups .Conclusion Epidural and sub‐cutaneous multimodal analgesia is a better multimodal analgesia scheme in thoracotomy esophageal cancer resection operation .

Objective:To investigate the polymorphism of HLA-DQA1 genes in Jing nationality of Central Vietnam.Methods:Applied PCR-SSP tecnique to determine the polymorphism of the HLA-DQA1 alleles of 105 healthy children and youth,unrelated individuals in Central of Vietnam.Results:10 HLA-DQA1 alleles were detected of which DQA1*0104 were the most common allele with frequency of 21.3% and lowest frequency is DQA1*0601.Conclusion:The results indicate that HLA-DQA1 alleles polymorphism of Jing nationality in Central Vietnam is different from the other Chinese. [

OBJECTIVETo investigate clinical outcomes of tendon allograft reconstruction with arthroscopy minimally invasive technique at stage I for the treatment of knee dislocation with multiple ligaments injury.

METHODSForty-eight patients with knee dislocation were reconstructed anterior and posterior ligament under arthroscopy at stage I from January 2008 to January 2012, and repaired ligaments injury of knee joint by minimally invasive technique. There were 38 males and 10 females aged from 20 to 59 years old with an average of 35.6 years old; 22 cases on the left side and 26 cases on the right side; the time from injury to operation ranged from 2 d to 2 weeks. Two cases combined with anterior cruciate ligament (ACL), posterior cruciate ligament (PCL), medial collateral ligament (MCL) and posterolateral complex injuries, 36 cases combined with ACL, PCL, and MCL injuries, 10 cases combined with ACL, PCL and PLC injuries; 4 cases combined with peroneal nerve injury. Lysholm scoring were used to compared the cases before operation and final following-up to evaluate knee function.

RESULTSAll patients were followed up from 12 to 30 months with an average of (18.2 ± 6.3) months. Activity and stability of joint were obviously improved. Lysholm score were improved from 40.3 ± 4.1 before operation to 87.0 ± 6.4 at final following-up.

CONCLUSIONReconstruction with arthroscopy minimally invasive technique at stage I for the treatment of knee dislocation with multiple ligaments injury could recover stability of joint better,reserve joint function. Preoperative training and postoperative individualized rehabilitation treatment is the key point of recover knee joint function.

Adult ; Anterior Cruciate Ligament Injuries ; Arthroscopy ; Female ; Humans ; Knee Dislocation ; rehabilitation ; surgery ; Male ; Middle Aged ; Multiple Trauma ; surgery ; Posterior Cruciate Ligament ; injuries ; Reconstructive Surgical Procedures ; methods

Objective To establish an accurate TaqMan probe real-time quantitative PCR (qPCR)method for detection of Theiler''s-like virus of rats (TLV).Methods Primers and TaqMan probes specific to 3622~3729 nt region were designed according to the whole genomic sequence of TLV representative strain.Using a synthesized plasmid as DNA standard template, the stability, specificity, and sensitivity of the qPCR method were determined.Results In the standard curve, R2 value was 0.99 with a high specificity.The sensitivity of the real-time PCR was less than 10 copies/μL, which was 100 times higher than the ordinary PCR method.No cross reactions appeared to the other rat viruses.Conclusions The TaqMan probe qPCR method established in this study has advantages such as simple to use, high sensitivity and specificity.

BACKGROUND: This study aimed to investigate the prevalence rate of critical illness-related corticosteroid insufficiency (CIRCI) and the effect of low-dose glucocorticoid on prognosis of CIRCI in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). METHODS: Since January 2010 to December 2012, 385 patients, who met the criteria of AECOPD, were enrolled in the Intensive Care Unit (ICU) of the First People's Hospital and Municipal Central Hospital of Xiangtan City. The AECOPD patients complicated with CIRCI screened by an adrenalcorticotrophic hormone test within 12 hours after admission to ICU were divided into a treatment group (n=32) and a control group (n=31) for a prospective, randomized and controlled clinical trial. Hydrocortisone (150 mg/d) or normal saline was injected intravenously for 7 days. The patients were followed up for 28 days after injection. The endpoint included 28-day survival time, non-shock time, ICU stay and the period of non-mechanical ventilation. The markers of inflammation C-reactive protein, tumor necrosis factor-α, interleukin 6 and procalcitonin were measured at baseline and 7 days after treatment. The variables were analyzed by Student's t test, the non-parametric statistical test, the Chi-square test or the Kaplan-Meier method with SPSS18.0 statistic software. A P value <0.05 was considered statistically significant. RESULTS: Totally 63 patients were diagnosed with CIRCI by an adrenalcorticotrophic hormone test and the prevalence rate was 16.4％. The shock rate of the AECOPD patients complicated with CIRCI was higher than that of the AECOPD patients without CIRCI (23.8％ vs. 8.7％, P<0.01). Kaplan-Meier analysis revealed that the 28-day survival time of the treatment group was obviously longer than that of the control group (P<0.05). Compared with the control group, shock-free days within 28 days was longer in the treatment group (18.2±9.5 vs. 25.8±4.1, P<0.05). Treatment with low-dose glucocorticoid obviously decreased the markers of infection and inflammation (P<0.01), such as C-reactive protein (13.2±5.5 mg/L vs. 8.3±3.1 mg/L for the control group; 13.5±5.9 mg/L vs. 5.1±2.3 mg/L for the treatment group), tumor necrosis factor-α (26.1±16.2 g/L vs. 17.5±11.7 g/L for the control group; 25.0±14.8 g/L vs. 10.4±7.8 g/L for the treatment group) and procalcitonin (3.88 g/L vs. 2.03 g/L for the control group; 3.77 g/L vs. 1.26 g/L for the treatment group). Furthermore, the markers in the treatment group decreased more obviously than those in the control group (P<0.01). CONCLUSION: The prevalence rate of CIRCI was higher in the patients with AECOPD in the department of critical medicine, and low-dose glucocorticoid treatment for one week reduced the 28-day mortality, shock time and markers of infection and inflammation.

Acute Coronary Syndrome ; etiology ; Angioplasty, Balloon, Coronary ; adverse effects ; Coronary Thrombosis ; etiology ; Drug Hypersensitivity ; etiology ; Drug-Eluting Stents ; adverse effects ; Humans

Objective To assess the feasibility and clinical results of video-assisted high anterior transcervical approach (Smith-Robinson) in treatment of spinal lesions of the craniovertebral junction. Methods Between April 2007 to October 2009, nineteen consecutive patients with spinal lesions of the craniovertebral junction were included in the study. There were 9 males and 10 females aged from 16 to 62 years old with a mean of 32 years. The primary pathologies included 4 cases with chronic odontiod fracture, 2 cases with purely irreducible atlantoaxial dislocation, 6 cases with os odonteideum, 1 case with Marfan synd rome, 1 case with primary basilar invagination from Kippel-Feil syndrome, 3 case with axis tumor and 1 case with irreducible rheumatoid atlantoaxial dislocation. All of the patients underwent combined video-assisted high anterior transcervical procedure and posterior fixation at one-stage. The anterior procedure included atlantoaxil release and reduction (8 cases), odontoidectomy (8 cases), and intralesional extracapsular excision and reconstruction (3 tumor cases). The posterior technique were C1-C2 pedicle screw fixation (13 cases), C1-C3 pedicle screw fixation (2 cases), and occipitalcervical fusion (4 cases). Results Anatomical reduction was achieved in eight cases with anterior release and reduction. Tumors were completely removed in three cases with axial tumor. The mean follow-up was 14 months (6-36 months). All of them achieved solid bone fusion. In the 14 patients with symptoms of spinal cord dysfunction, the average Japanese Orthopaedic Association (JOA)score had improved from 9.1±3.3 preoperatively to 14.1±2.9 postperatively. The improvement rate was excellent for 7 cases, good for 5 cases, fair for lcase and poor for 1 case. One patient experienced leakage of cerebrospinal fluid which was resolved by bioprotein gelatin blocking and lumbar subarachnoid continuous drainage within 1 week. Dysphagia which occurred in 3 cases responded well to dexamethason and mannitol.No infection and hardware failure were observed. Conclusion Video-assisted high anterior transcervical procedure is a safe and effective alternative for treating spinal lesions in the craniovertebral junction.

Objective To study the distribution of apolipoprotein E(apoE) genotypes and alleles in children with primary nephrotic syndrome(PNS),and to investigate the relationship between apoE gene polymorphism and disturbance of serum lipid metabolism.Methods Forty-six children with PNS were compared with 39 age-sex-matched healthy children.Serum levels of total cholesterol(TC),triglyeride(TG),high density lipoprotein-cholesterol(HDL-C),low density lipoprotein-cholesterol(LDL-C),apoA_1,apoB and apoA_1/B were detected,and polychain reaction single-strand conformation polymorphism(PCR-SSCP) combined with gene sequence determination was used to confirm the apoE genotypes in two groups.Results 1.Serum TC,TG,HDL-C,LDL-C,apoB and apoA_1/B in PNS group were higher than those of control group,respectively(P