In the present study, platelet GSH_(px), SOD activities and cAMP contents, as well as whole blood, erythrocyte, plasma and hair selenium levels were comparatively measured in children from Keshan disease endemic and non-endemic areas. The results showed that blood and hair selenium contents were significantly lower in children of the endemic area than in those of the non-endemic area; children in the endemic area had a signifi cantly lower platelet GSH_(px) activities as compared to those in the non-endemic area, but no remarkable difference of platelet SOD activities and cAMP contents between children in the two areas was observed. The results indicate that the reduced GSH_(px) activity of low-selenium children in the endemic area may result in alterations in platelet functions and arachidonic acid metabolism.

Objective To explore the diagnostic value of contrast-enhanced spiral CT after low tension and drinking water in papillary carcinoma of ampulla. Methods CT manifestations of papillary carcinoma of ampulla comfirmed pathologically in 20 cases were analysed retrospectively emphasized in artery phase on contrast CT which was performed after injecting 654-2 20 mg and drinking 300~500 ml water.Results Of all the cases , only 2 cases showed tumor filling defect in the descending part of duedenum nearby pancreas on routine CT, but all the cases showed more or less tumor filling defect on contrast-enhanced spiral CT . The diameters of the tumor were between 0.8 to 2.6 cm,2 cases with head of pancreas affected,the diameters of the tumor were between 2.4 to 2.6 cm.There were 2 cases with lymph node metastasis nearby duedenum.All the cases showed expansion of gallbladder ,intrahepatic duct and choledochus expanding in the liver. Conclusion Contrast-enhanced spiral CT after low tension and drinking water is superior to routine CT in determining the size and morphosis of tumor.

Objective:To assess the prevalence of HIV primary drug resistance and drug resistance gene mutations among men who have sex with men (MSM).Methods:We searched eight electronic databases (CNKI,VIP,CBM,Wanfang Database,PubMed,Web of Knowledge,Springer,Medline) for the studies of HIV drug resistance relevant to MSM.Drug resistance and drug resistance mutations data were pooled and analyzed according to statistical test of homogeneity.Subgroups were further divided according to sample size,location,race,quality rating score,sampling time.Results:Forty-three studies were included in this Meta-analysis.The pooled rate of total to protease inhibitor (PI),nucleoside reverse transcriptase inhibitor(NRTI) or non-nucleoside reverse transcriptase inhibitor (NNRTI) were 10.21％ (95％ CI 8.65％ to12.03％),2.98％ (95％ CI 2.25％ to 3.93％),4.05％ (95％ CI 3.14％ to 5.21％),4.42％ (95％ CI 3.31％ to 5.88％),respectively.The pooled rates of PI major mutation,PI secondary mutations,NRTI mutations and NNRTI mutations were 0.55％ (95％ CI 0.38％ to 0.80％),1.31％ (95％ CI 0.98％ to 1.75％),0.85％ (95％ CI 0.51％ to 1.40％),1.19％ (95％ CI 0.70％ to 2.01％),0.79％ (95％ CI 0.55％ to 1.13％),1.73％ (95％ CI 1.21％ to 2.46％),0.86％ (95％ CI 0.61％ to 1.21％),2.24％ (95％ CI 1.77％ to 2.83％),respectively.Sample size,region,and race were heterogeneous sources;the rate of resistance mutations and gene mutation rate were different in different subgroups.Conclusion:The prevalence of primary drug resistance among MSM was high in Americas and Europe,and it was gradually increased in Asia.We should pay attention to the high incidence of PI secondary mutations.

Objective To explore the levels of neuron-speciifc enolase (NSE) of the cerebrospinal lfuid (CSF) in children with convulsion. Methods Ninety children with convulsion were enrolled. According to the frequency of convulsion attack, the children were divided into brief convulsion group 51 cases and prolonged convulsion group 39 cases, further, based on the etiology, the children were divided into viral encephalitis (VE) group, idiopathic epilepsy (EP) group, and febrile convulsion (FS) group. CSF was collected within 24-48 h convulsion attack. Twenty-three children with elective surgery were selected as a control group. CSF was collected before surgery. The NSE level of CSF were measured by ELISA method and compared among groups. Results The NSE levels of CSF in prolonged convulsion group and brief convulsion group were signiifcantly higher than that in control group, while the NES levels of CSF in prolonged convulsion group were signiifcantly higher than that in brief convulsion group (all P<0.05). Among the prolong convulsion group or the brief convulsion group, the VE group had the highest NSE level of CSF, which was signiifcantly higher than EP group and FS group (all P<0.01), and the difference between EP group and FS group was not statistically signiifcant (P>0.05). Conclusions Convulsion contributed to higher NSE levers of CSF, especially in children with prolonged convulsion attack or with VE. The NSE level of CSF can be regarded as an early objective indicator of brain damage after convulsions.

Objective To investigate the characteristics of X-ray signs of water-related and coal-burning borne endemic fluorosis in Shaanxi Province,so as to provide a theoretical basis for revising X-ray diagnostic criteria of skeletal fluorosis in the future.Methods The X-ray data of 2 525 cases of patients with endemic fluorosis from the central subsidies to local public health programs were collected from 2008 to 2011,and the X-ray signs,age,gender distribution,detection rate were analyzed statistically ; skeletal fluorosis was diagnosed on the basis of skeletal diagnostic criteria(WS 192-2008).Results The 2 525 cases observed were taken X-ray film on forearm and shank.In the X-ray signs of patients from fluorosis areas,the detection rates were higher,and these signs were mainly radial crest of increase,marginal sclerosis,surface thickening and forearm interosseous membrane ossification and forearm interosseous membrane calcification which showed bud break ground sign,which accounted for 29.91％(242/809),17.92％(145/809) and 17.69％ (143/809),respectively.Three X-ray signs occurred in the forearm,and the total detection rate based on the forearm signs was 88.12％ (721/809); 682 cases of skeletal fluorosis were detected and the detection rate was 27.01％ (682/2 525),including 401 mild cases accounting for 15.88％ (401/2 525); 236 moderate cases that accounted for 9.35％ (236/2 525); 45 severe cases accounted for 1.78％(45/2 525).With age,the prevalence increased gradually.After the age of 55 reached the peak,and the difference was significant statistically between different ages (x2 =228.58,P ＜ 0.05).The total prevalence was not significantly different between male group and female group (x2 =0.74,P ＞ 0.05).Conclusions With age,the prevalence of skeletal fluorosis is increased,and the skeletal fluorosis is not different between different sexes.The X-ray sign results have showed that the prevalence based on forearm signs is high and specific.We suggest to diagnose skeletal fluorosis by the X-ray signs of the forearm in the diagnostic standard revision,so as to reduce financial input,workload and radiation level to the patient.

INTRODUCTIONIn this paper, we report a novel VMD2 gene mutation in a Chinese family with Best vitelliform macular dystrophy.

MATERIALS AND METHODSOphthalmologic examination and optical coherence tomography (OCT) were performed in 2 members of this family. Mutational screening was performed by single-strand conformation polymorphism (SSCP) and direct sequencing of PCR-amplified DNA fragments, corresponding to the 11 exons of the gene.

RESULTSSequence analysis identified a previously unreported C to G change, predicting a Phe-113-Leu substitution. Both the proband and his sister harboured this novel mutation. Each had bilateral vitelliform lesions.

CONCLUSIONSA novel mutation in the VMD2 gene (C427G) was found in Chinese patients with Best vitelliform macular dystrophy.

Adult ; Bestrophins ; China ; Chloride Channels ; Eye Proteins ; genetics ; Female ; Humans ; Macular Degeneration ; genetics ; Male ; Mutation ; Pedigree

Objective To evaluate a rapid biochip system for the determination of muhidrugresistant tuberculosis (MDR-TB) in Mycobacterium tuberculosis isolates. MethodsA total of 1 186 clinical strains, including 800 rifampin (RFP) resistant isolates, 797 isoniozid (INH)resistant isolates, 791 MDR-TB and 380 susceptible strains, were selected from Beijing Chest Hospital, Shanghai Pulmonary Hospital and Guangzhou Chest Hospital respectively using stratified sampling method. Biochips were used to detect loci of rpoB 511 (T→C), 513 (A→C, C→A), 516 (G→T, A→T, A→G) , 526 (C→T, C→G, A→T, A→G), 531 (C→T, C→G), 533 (T→C), katG 315 ( G→C, G→A) and inhA -15 (C→T). Absolute concentration drug susceptibility test of RFP and INH were performed to serve as the gold standard to calculate susceptibility, specificity and overall concordance of biochip test. All polymerase chain reaction (PCR) products were sequenced to confirm the mutations. ResultsThe concordances between the biochip system and absolute concentration drug susceptibility test were 93.7％ ( 1 108/1 183 ) for RFP, 83. 8％(994/1 186) for INH and 82.4％ (975/1 183) for MDR-TB. Compared with absolute concentration drug susceptibility test, the biochip method displayed a sensitivity of 92. 0％ (733/797) and 77. 4％ (617/797)and a specificity of 97. 2％ (375/386) and 96. 9％ (377/389) for RIF and INH, respectively. For MDR-TB, the biochip system reached a sensitivity of 74. 6％ ( 588/788 ) and a specificity of 98.0％ ( 387/395 ).Among rpoB mutants, mutations were mostly detected at codon 531[64. 5％ (480/744)]. In stains with mutations in katG or inhA, 77.4％ ( 487/629 ) had mutation at codon 315 ( TCG ) of katG only. The sequencing results had a high concordance with that of the biochip method. There were slight differences in 5 strains, among which one strain was detected by biochip as katG 315(G→C) mutant, but was identified by sequencing as wild type, and mutation types other than those detected by the biochip were confirmed in the other 4 strains by sequencing. Conclusion This biochip system is adapted for extensive application in clinical diagnosis, as it allows fast and reliable detection of resistance to isoniazid and rifampin in tuberculosis clinical isolates.

Objective To study a rare CT finding of pulsatile tinnitus(FT)caused by sigmoid sinus abnormalities.Methods The imaging data of PT caused by sigmoid sinus abnormalities were analyzed retrospectively in 15 patients(15 female).The median age was 45 years(24 to 63 years).The duration of persistence pulsatile tinnitus was from 0.5 year to 36.0 years(median time,2.0 years).The tinnitus was at left side in 5 patients and right side in 10 patients.Fifteen patients underwent HRCT of the temporal bone.Of them,12 patients underwent cerebral CT angiography and CT venogram(CTA/CTV),and 9 patients underwent cerebral digital subtraction angiography(DSA).Nine patients underwent transmastoid reconstruction surgery of the sigmoid sinus.Of them,the tinnitus was at left side in 2 patients and right side in 7 patients.Paired rank sum test was used to compare the cross-sectional area of the sigmoid sinus of the tinnitus side and normal side.Results On HRCT,focal bony coarse defect is shown in the anterior sigmoid wall in 11 patients and anterolateral sigmoid wall in 4 patients.On CTA/CTV,the sigmoid sinus focally protruded into the adjacent mastoid air cells and formed diverticulum in 10 patients.The pulsatile tinnitus disappeared immediately after transmastoid reconstruction surgery of the sigmoid sinus in all 9 patients.The cross-sectional area of the sigmoid sinus of the tinnitus side was 100.6(41.5-96.2)mm~2,it was 77.0(92.1-122.4)mm~2 in the nonmal side(Z=2.158,P=0.031).Conclusion Focal bony defect of the sigmoid wall with sigmoid sinus diverticula is one of the causes which lead to pulsatile tinnitus,which can be easily identified by imaging examination.

Objective To study the genotypes of representative Mycobacterium tuberculosis (M.tuberculosis) strains from China with spacer oligonucleotide typing (spoligotyping),and to investigate the prevalence of different genotypes TB in China,and analyse the relationship between genotype and drug resistance.Methods 4017 clinical isolates were collected by Chinese Center for Disease Control and Prevention from 2007 to 2008 in 31 provinces in China according to sampling principle of epidemiology.Drug susceptibility testing was performed using proportion method,and spoligotyping was chosen to carry out genotyping of these M.tuberculosis.In addition,chi-square test was used to compare the differences among the detection rate of different genotypes.Results Among the 4017 M.tuberculosis isolates,2500 ( 62.2％ ) isolates belonged to Beijing genotype.The percentage of Beijing genotypes in the northern of China was higher than that in the southern of China ( 76.5％ vs.53.2％,x2 =219.69,P ＜ 0.05 ),while T1 genotypes were more common in the southern China,compared with that in northern China ( 13.3％ vs.4.3％,x2 =219.69,P ＜ 0.05 ).The differences were statistically significant.The proportions of Rifampinresistant (21.7％ vs.21.7％ ),Ofloxacin-resistant (4.9％ vs.2.4％ ) and Multidrug-resistant ( 11.3％vs.7.4％ ) isolates among Beijing genotype strains were significantly higher than those among non-Beijing strains (x2 =22.10,14.42 and 14.83,respectively,P ＜ 0.05 ).Conclusions Beijing genotype was still predominant epidemic genotypes.The percentage of Beijing genotype showed difference between distinct areas,and the percentage of Beijing genotypes in northern China was higher than that in southern China.Beijing genotype strains reveal correlation with Rifampin-resistance,Ofloxacin-resistance and Multidrug-resistance.

Objective To establish a magnetic nanoparticles separation-based quantitative real-time PCR(RT-PCR)assay for fast and accurate detection of Plasmodium falciparum and providing a technical support for improving the control and preven-tion of imported malaria. Methods According to the conserved sequences of the P. falciparum genome 18SrRNA,the species-specific primers and probe were designed and synthetized. The RT-PCR was established by constructing the plasmid standard , fitting the standard curve and using magnetic nanoparticles separation. The sensitivity and specificity of the assay were evaluat-ed. Results The relationship between the threshold cycle(Ct)and logarithm of initial templates copies was linear over a range of 2.5×101 to 2.5×108 copies/μl(R2=0.999). Among 13 subjects of entry frontier,a P. falciparum carrier with low load was de-tected by using the assay and none was detected with the conventional examinations(microscopic examinations and rapid tests). Conclusion This assay shows a high sensitivity in detection of P. falciparum,with rapid and accurate characteristics,and is especially useful in diagnosis of P. falciparum infectors with low parasitaemia at entry-exit frontier ports.