Objective 　To screen for gene mutation of exon 18 in Chinese patients with Wilson disease. Methods　PCR-SSCP was used to screen exon 18 in 45 Wilson disease patients among 39 Chinese families and 10 normal controls. Those with abnormality were further analyzed by necleotide sequence analysis. Results　There were 16 mobility shift with two different styles in exon 18. All abnormal mobility shifts were sequence analysed. No gene mutation was found. Conclusions　Our result suggest that, contrary to findings in Caucasians, exon 18 is not a frequent mutation point in Chinese patients with Wilson disease.

【Objective】 To investigate the molecular basis of hepatolenticular degeneration (Wilson disease, WD) and to attempt to construct the feasibility of gene diagnosis in the disease. 【Methods】 We have performed the molecular biological study on this disease for 10 years by molecular geneti c techniques. 【Results】 ①Location of WD gene in Ch inese: Using pairwise linkage analysis and multipoint linkage analysis method, w e constructed a genetic map of DNA markers within D13q14.2-3 which refined the location of WD gene by restriction fragment length polymorphism(RFL P) and microsatellite polymorphism analysis; ②Screen for mutations of WD gene in Chinese people: we detected the structure of 21 exons of WD ge ne in 45 patients from 39 pedigrees by PCR-SSCP(Single strand conformation poly morphism) and PCR-DNA sequencing technology, found a new mutation in exon 5 and nuclcotide sequence analysis showed it is a T insertion. We also conformed the Arg778Leu in exon 8, the highest frequence mutation point in Chinese people, wit h mutation rate 22.8% in total;③Carrier detection and presymptomatic diagnosi s of WD: Based on DNA recombination technology, we peformed successfully the gen e diagnosis in all individuals of 79 families with WD and built up a helpful spe cific enzyme cut method (PCR-Msp1) to detect the carrier and presympomatic patients in Chinese pe ople with WD. 【Conclusion】 These results showed that the location of WD gene within D13q14.2-3 is the same in Chinese as in Caucasians, but the g ene high m utation point,the gene diagnosis method and its pathogenesis are markly different.

Objective To observe the serum and cerebrospinal fluid (CSF) levels of procalcitonin (PCT),matrix metalloproteinase-9 (MMP-9) in children with purulent meningitis and viral encephalitis,and evaluat the differential diagnosis value of PCT and MMP-9.Methods The clinical data of 73 patients with intracranial infection admitted to neurology of Qingdao Women and Children's Hospital from September 2014 to December 2015.Twenty-two patients with pumlent meningitis were se1ected as purulent meningitis group,51 patients with viral encephalitis as viral encephalitis group,and another 20 non-infectious convulsion children as a control group.Samples of 2 ml CSF and 3 ml venous blood from all the subjects were collected within 24 hours after admission.The levels of MMP-9 were detected by Enzymelinked immunosorbent assay (ELISA),and the PCT 1evels were measured by electrochemiluminescence immunoassay.The data in multiple groups were compared with analysis of variance,and by SNK-q test to carry on pairwise comparison among groups.The positive rate significance compared by Chi-square test.Linear correlation analysis was used for correlation analysis.Results Mean serum and CSF levels of PCT in the pumlent meningitis patients group were significantly higher than those in the viral encephalitis group as well as the control group (P ＜ 0.01),but the levels of serum or CSF there were no significant difference between the viral encephalitis group and the control group (P ＞ 0.05);Mean serum and CSF levels of MMP-9 in the pumlent meningitis patients group were significantly higher than those in the viral encephalitis group and control group (P ＜ 0.01),and the levels in patients with viral encephalitis were significantly higher than those in control group (P ＜ 0.01);The increased percentage of the serum and CSF PCT in pumlent meningitis group were significantly higher than in viral encephalitis group (P ＜ 0.01).,but there were no significant difference for MMP-9 (P ＞ 0.05);The PCT level of serum or CSF in pumlent meningitis patients was positively correlated with MMP-9 (r =0.498,P ＜ 0.01),but there was no significant correlation in viral encephalitis group (P ＞ 0.05).Conclusion Detection of PCT and MMP-9 level is valuable in differential diagnosis for the pumlent meningitis or viral encephalitis.

Objective To study the serum levels of brain natriuretic peptide (BNP) and the correlation with the heart function in children with Kawasaki disease(KD), and to explore its clinical value for diagnosis of KD. Method A total of 43 children aged from 5 months to 8 years with mean age of (2.3 + 0.6) years with KD admitted from February 2007 to April 2009 were enrolled into this study as KD group, and patients with myocarditis, myocardiopathy, congenital heart disease and other primary heart disease were ruled out. Another 30 healthy children were taken as control health group. There were no significant differences in age and gender between two groups (P >0.05) .The serum levels of BNP were measured both in acute and recovery stages of KD by using ELISA. The serum levels of BNP in healthy children were measured randomly once. The left ventricular ejection fraction (LVEF), left ventricular shorten fraction ( LVSF), cardiac index (CI) and left ventricular inflow velocity through the mitral annulus (including E-velocity and A-velocity) were measured by using two-dimensional echocardiography in acute and recovery stages of KD. Data were analyzed with t -test and the linear regression analysis test. Results The serum level of BNP in acute stage was (517.26 + 213.40) ng/mL and was significantly higher than that in recovery stage (91.56 + 47.97) ng/mL, and higher than that in control group (91.56 + 47.97) ng/mL (P < 0.01). The levels of LVEF, LVSF and CI in the acute stage were significantly lower than those in the recoverystage ( P < 0.0%), but there was no significant difference in E/A between acute stage and recovery stage (P > 0.05). The BNP level had negative correlation with the levels of LVEF, LVSF and CI(r = -0.63, -0.52, and - 0.53, respectively, P < 0.05), but had no significant correlation with E/A (r = - 0.18, P > 0.05). Conclusions The serum levels of BNP increase significantly in the KD patients, and have negative correlation with the levels of LVEF, LVSF and CI. The detection of serum levels of BNP has an important significance for diagnosis of KD.

Objective:To investigate the imaging quality of CBCT under different exposure parameters and the relationship between subjective and objective evaluation.Methods:CBCT scanners of 6 different suppliers[3D Accuitomo(Morita),i-mCAT(Kavo),5G(NewTom),Smart3D(Beijing Langshi),DCT Pro(Vatech),Vgi(NewTom)]were used to scan the spatial resolution models and head simulators under typical exposure conditions(different device with different tube voltage and current for exposure).The visibility of SedentexCT IQ phantom and anatomical structures generated by different CBCT scanners were compared.For objective evaluation,7 professional evaluators scored CBCT imaging qualities.For subjective evaluation,the resolution(LP/mm)of the images were com-pared among the devices.Results:No significant difference was found by 7 evaluators either intra or inter of the teams.By objective e-valuation,the score of NewTom 5G was 2,that of i-CAT was 5 and that of the others was 4.By subjective evaluation,the LP/mm of i-CAT was 1.8,that of Smart3D was 2.0 and that of the others was 1.0-1.7.The subjective evaluation of image quality obtained un-der different tube voltages and tube currents were significantly different.Conclusion:The subjective and objective evaluations of image quality are approximately consistent.The difference of the subjective image quality may be produced by the different tube voltage and current for exposure.