[Objective]To investigate the possible etiological factors,pathogenesis,diagnostic criteria,clinic characteristics and the choice of treatment of the adolescent instability of lower cervical spine.[Method]The diagnosis,therapies and follow-up materials of the two typical cases were analyzed and researched with the available literatures.[Result]The two cases showed dissappearance of syndroms.The Roentgen film showed that the operative segments have gotten bone-fuse.Results were excellent according to Henderson-evaluation classification without any complications at 3 and 4 years follow-up.[Conclusion]The degeneration is probable one of the etiological factors causing adolescent instability of lower cervical spine.It is resemble on the pathogenesis,diagnostic criteria and the choice of treatment between the adolescent and the adult.But the each characteristic on the pathogenesis,pathologic process,clinical situation should be remarked.The growth potentiality and other correlated factors should be paid attention to for the choice of treatment.

Objective:To construct a bait vector for HSPC238, and to screen the target proteins which interact with the HSPC238.Methods:Gene synthesis method was used to synthetic gene HSPC238, then connected with the pGBKT7 vector after digesting by the sfiIA and sfiIB,to obtain the bait plasmid pGBKT7-HSPC238,then transferred into the yeast strains AH109 with the empty plasmid pGBKT7after sequencing,to observe its self-activating effect in the nutrient deficiencies medium,and further to screen the target proteins which interact with HSPC238 from the human fetal liver cDNA library.Results:The bait vector pGBKT7-HSPC238 was successfully constructed,and it had no self-activating effect through the phenotypic screening,after the yeast two-hybrid technology with literature analysis,we preliminary screened and found that the ribosomal protein L5(RPL5) may be the one of the target proteins which interacted with HSPC238 from the human fetal liver cDNA library.Conclusion: We successfully constructed the bait plasmid vector PGBKT7-HSPC238,and after the yeast two-hybrid technology with literature analysis,we preliminary screened and found that the ribosomal protein L5( RPL5) may be the one of the target proteins which interacted with HSPC238.

Objective:To investigate the effect of HSPC 238 overexpression or low expression on the regulation of the target protein ( HMOX1, MT2A, UBB, RPS27a ) and the regulation pathways.Methods: To construct the interference vector and overexpression vector of HSPC238 respectively,transfected the HEPG2 cell lines by the liposome method,detect the expression of mRNA and protein of the HSPC 238 and the target proteins by the RT-PCR and Western blot , further to transfer the overexpression plasmids of the target proteins into the HEPG 2 cell lines which had been transfected with interference vector and overexpression vector of HSPC238,the experimental group cell lines were treated with proteasome inhibitor MG 132,to purify the target proteins with nickel column,do immunoblotting with HSPC238 to detect the accumulation situation of the target proteins.Results: The HMOX1,MT2A, RPS27a were downregulated obviously when the HSPC 238 was interfered exogenous;and the MT2A,UBB,RPS27a were up-regulated after the HSPC238 overexpressed.The overexpression plasmid of target proteins were transfected into the HEPG 2 cell lines which have been transfected with interference vector and overexpression vector of HSPC 238 ,compared with the control group ,the target protein band in the experimental group was significantly increased after treatment with the proteasome inhibitor MG 132.Conclusion:The HSPC238 overexpression can upregulate the expression of MT 2A,UBB and RPS27a,and interfering HSPC238 can downregulate the expression of HMOX1,MT2A and RPS27a;the HSPC238 target protein may play a regulatory role through the UPP pathway;the HSPC238 may play a regulatory role on the target proteins through the UPP pathway.

Anelectrochemicallyreducedgrapheneoxide/goldnanoparticle-chitosan(ERGO/AuNP-CS) composite film modified glassy carbon electrode ( GCE) was constructed by directly electrochemical reduction of GO, and then assembly of AuNP-CS polycation on the surface. The surface morphologies of different modified electrodes including bare GCE, GCE/GO, GCE/ERGO and GCE/ERGO/AuNP-CS were characterized by scanning electron microscopy ( SEM ) . The differential pulse voltammetric behaviors of the electrodes were investigated, and the results indicated that the composite of ERGO/AuNP-CS exhibited excellent electrocatalytic oxidation activity to uric acid ( UA) molecule. In 0. 10 mol/L of phosphate buffer solution (pH=6. 5) with a scanning rate of 100 mV/s, the proposed composite film modified electrode showed a linear electrochemical response to UA in the range of 0 . 05-110 μmol/L with a detection limit of 12. 4 nmol/L ( S/N = 3 ). The electrode displayed good selectivity, reproducibility and stability in the determination of UA in human serum and urine samples with a recovery of 93 . 8%-104 . 1%. The detection results were agreed with those of conventional spectrophotometry and uricase Kit methods.

Objective: To investigate the expression of HSPC238 in cervical intraepithelial neoplasia and cervical cancer.Methods:We collected 76 cases of cervical cancer,105 cases of CIN and 28 cases of normal cervical epithelial.Then we inves-tigated the expression of HSPC238 by using immunohistochemistry and compared the significant differences between them.Results:There was no significant difference in the expression of HSPC238 between the cervical cancer and normal cervical epithelial ( Z=-0.242,P>0.05).However,there was significant difference between the cervical intraepithelial neoplasia and normal cervical epithelial (χ2=19.159,P<0.01) and the expression of HSPC238 was correlated with the grades of CIN.The expression of HSPC238 decreased when the grade of CIN was increasing.( rs=-0.327,P<0.01 ).Conclusion:The low expression of HSPC238 might be correlated with the development of cervical neoplasia.

OBJECTIVE: To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia. METHODS: Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo. CONCLUSION The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.
Abnormalities, Multiple ; Anus, Imperforate/genetics* ; Child ; Female ; Hearing Loss, Sensorineural/genetics* ; Humans ; Infant ; Infant, Newborn ; Male ; Renal Insufficiency ; Thumb/abnormalities* ; Transcription Factors/genetics*

Objective To compare the safety and efficacy of transcatheter closure of secundum atrial septal defect(ASD)with surgical closure in patients over 40 years old.Methods A single center, nonrandomized concurrent study was performed in 233 consecutive adults from January,2004 to December, 2005.The patients were assigned to either the device or surgical closure group according to the patients' options.Technical success rate,complications,residual shunt,hospital stay,amount of blood transfusion and cost were compared .Results A total of 137 patients were in the group undergoing device closure,whereas 96 patients were in the surgical group.There was no differences in age,sex distribution or baseline cardiac function between the two groups.The sizes of the ASD were(18.9?5.4)mm for the device group and(24.9?6.8)mm for the surgical group(P＜0.001).The technical success rates were 97.1% for the device group and 100% for the surgical group(P=0.151).The residual shunt rates were 0.7% for the device group and 0% for the surgical group(P=0.583).Mortality was zero for both groups.The complication rates were 16.1% for the device group and 30.2% for the surgical group(P=0.015).The blood transfusion amounts were(273.1?491.5)ml for the surgical group and 0 ml for the device group(P＜0.001).The lengths of hospital stay were (4.6?3.3)days for the device group and(12.0?4.0)days for the surgical group(P＜0.001).The costs of hospital stay were 39 570.0?5 929.5 RMB for the device group and 29 839.6?7 533.1 RMB for the surgical group(P＜0.001).Conclusions The technical success rates for surgical versus device closure of ASD were not significantly different,however,the complication rate was lower and the length of hospital stay was shorter for device closure than those for surgical repair.Transcatheter closure of seeundum ASD is a safe and effective alternative to surgical repair in selected patients.(J Intervent Radiol,2007,16:79-83)