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<p><b>OBJECTIVE</b>To investigate EXT1 and EXT2 genes mutations in a family with hereditary multiple osteochondromas (HME).</p><p><b>METHODS</b>A four-generation family with HME from Linyi city of Shandong Province was studied. There were 6 affected individuals among the 17 family members. Physical examination and radiographical evaluations were carried out for all family members. Genomic DNA was extracted from peripheral venous blood and the samples were subjected to mutation screening by PCR of the coding regions of EXT1 and EXT2 genes.</p><p><b>RESULTS</b>The family has featured an autosomal dominant inheritance pattern. Sequencing of the EXT1 and EXT2 genes suggested the causative gene in this family was in linkage with the second exon of EXT2. A c.244delG mutation was detected, which has resulted in a frameshift mutation p.Asp81IlefsX30. The mutation was found in all of the 6 affected individuals but not in normal family members. And the mutation has co-segregated with the phenotype.</p><p><b>CONCLUSION</b>The mutation c.244delG in the EXT2 gene is the probably the cause of the disease in this family.</p>
Subject(s)
Adult , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Base Sequence , DNA Mutational Analysis , Exons , Exostoses, Multiple Hereditary , Genetics , Molecular Sequence Data , N-Acetylglucosaminyltransferases , Genetics , Pedigree , Point MutationABSTRACT
Objective To analyze the genotype and molecular epidemiology of carbapenem-resistant Enterobacteriaceae.Method A total of 201 carbapenem-resistant Enterobacteriaceae were isolated from 14hospitals in 11 cities.The MICs of 14 antimicrobial drugs were detected using agar dilution method.Phenotypes of carbapenemases were screened using modified Hodge test and ethylene diamine tetraacetic acid (EDTA) test.Drug resistance genes were screened using PCR method.The strains carrying carbapenem resistance genes were confirmed by conjugation test.Homology analysis was carried out using pulsed-field gel electro-phoresis (PFGE) method and the epidemiological correlation is analyzed based on the Multilocus Sequence Typing (MLST) method in order to study the molecular epidemiology of carbapenem-resistant Enterobacteriaceae.Results Fifty-three strains among 201 carbapenem-insensitive Enterobacteriaceae were detected positive carbapenem-resistant genes,among which included 33 Klebsiella pneumoniae,9 Citrobacter freundii,6 Escherichia coli and 5 Enterobacter cloacae.Among the 53 strains,43 were from Beijing,6 strains from Hangzhou,3 strains from Nanjing and one from Fuzhou.Resistance genes-harboring plasmids were successfully transferred from 28 of 53 strains to Escherichia coli EC600.The PFGE spectmm showed that 33 Klebsiella pneumoniae were classified into three types,9 Citrobacterfreundii classified into four types,5 Enterobacter cloacae classified into four types,while 6 Escherichia coli were the same type.Based on the results of MLST test,29 Klebsiella pneumoniae strains producing KPC-2 type carbapenemase were all ST11,while among the four Klebsiella pneumonia carrying IMP-4 carbapenem resistant gene,three strains were ST876,one was ST147.Conclusions Carbapenem-resistant genes were detected only in hospitals from Beijing,Hangzhou,Nanjing and Fuzhou,and type KPC-2 was the most common,followed by IMP-4 and IMP-8.High homology of resistant strains could be related to horizontal transfer of carbapenemase genes,which should cause great concern.
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Objective To investigate the factors affecting the susceptibility of tigecycline and assess the testing methods.Methods The 116 isolates of Acinetobacter baumanaii and Klebsiella pneumoniae were collected in 13 hospitals from January to December,2010,to evaluate the effects on the tigecycline susceptibility of the overnight medium,medium brand and lot number,respectively.The 56 isolates of Acinetobacter baumannii and the 47 isolates of Klebsiella pneumoniae were selected randomly according to the MIC distribution proportion in 2010 and 2012.The broth microdilution was taken as the reference method to evaluate the effects of the agar dilution,disk diffusion,MIC Test Strip (MTS) and Vitek2 (GN16) on the susceptibility of tigecycline.Results The essential agreement (EA) of Acinetobacter baumannii and Klebsiella pneumoniae is 89.7％ (52/58)and 87.9％ (51/58) using overnight medium and fresh medium respectively.Both EA and categorical agreement (CA) of the different brands (BBL and Oxoid) and lot numbers are 100％ using agar dilution.According to the FDA break point criteria,the CA/EA is 77.7％ (80/103)/99.0％ (102/103),87.4％ (90/103)/98.1％ (101/103),64.1％ (66/103)/76.7％ (79/103) using agar dilution,MTS,Vitek (GN16) with respect to broth microdilution.The CA is 79.6％ (82/ 103,S≥14 mm,R≤10 mm),69.9％ (72/103,S≥ 16 mm,R≤ 12 mm),34.0％ (35/103,S≥19 mm,R≤14 mm)using disk diffusion method compared with broth microdilution (FDA break point criteria).Conclusions The susceptibility of tigecycline must be tested using fresh medium.The medium brands and lot numbers used in this test have no effects on the tigecycline susceptibility to Acinetobacter baumannii and Klebsiella pneumoniae.There exist the better correlations on MIC using agar dilution and MTS than the disk diffusion and Vitek(GN16) compared with broth microdilution.It is expected that the consistency can be improved by adjusting the break point of disk diffusion.
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Objective To investigate antimicrobial resistance among gram-negative bacilli in China in 2010.Methods A total of 1 259 consecutive and non-repetitive gram-negative bacilli were isolated from 13 teaching hospitals from September to December in 2010 in China.All of these isolates were sent to the central laboratory for re-identification and susceptibility testing.The MIC of meropenem and other antibacterial agents were determined by agar dilution method.Interpretive results was determined by CLSI M100-S21.Results The activity of 14 antibacterial agents against 845 Enterobacteriaceae isolates was as follows in order:meropenem ( 98.1％,829 ),amikacin ( 94.0％,794 ),imipeuem ( 90.0％,761 ),piperacillin/tazobactam ( 87.5％,739 ),cefepime ( 83.0％,701 ),ertapenem ( 82.4％,696 ),cefoperazone/sulbactam ( 80.3％,678 ),colistin (75.4％,637),ceftazidime (70.0％,591 ),ciprofloxacin (59.1％,499 ),cefoxitin ( 54.8％,463 ),ceftriaxone ( 53.5％,452 ),cefotaxime ( 52.3％,442 ) and minocycline(51.5％,435).The prevalence of ESBL was 61.3％ (106/173) in Escherichia coli,which was much higher than 41.2％ (70/170) in Klebsiella pneumoniae.The susceptibility rate of Klebsiella pneumoniae against meropenem,imipenem,amikacin and colistin were more than 90％,but were highly resistant to ceftriaxone and cefotaxime.Over 80％ of Enterobacter cloacae,Enterobacter aerogenes,Citrobacter freundii,were susceptible to meropenem,amikacin,cefepine,cefoperazone/sulbactam,imipenem,piperacillin/ tazobactam,and ertapenem.The most active antibiotics against Pseudomonas aeruginosa were Colistin (98.4％,182),Amikacin ( 85.9％,159 ),Piperacillin/Tazobactam ( 80％,148 ),Ceftazidime ( 79.5％,147),Meropenem (74.1％,137),Ciprofloxacin (74.1％,137),Cefepime (73.5％,136),Imipenem (71.9％,132) and Cefoperazone/Sulbactam (70.8％,131 ).Less than 37％ of Acinetobacter baumannii isolates were resistant to carbapenems.The susceptible rate to Minocycline was 47.8％.Colistin kept good activity against Acinetobacter baumannii (susceptible rate,97.8％,n =176),The prevalence of Pan-drug resistant P.aeruginosa and A.baumannii was 18.9％ (n =35),and 61.8％ (n =108),respectively.Conclusions Carbapenems remained very high activity against Enterobacteriaceae.Increasing resistance to the antimicrobials agents test among A.baumanni and P.aeruginosa,especially carbapenems among A.baumanni brought great concern.
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BACKGROUND: Eggembryosin is characterized by tonifying kidney and vital essence, invigorating qi and spleen, replenishing and activating blood, beautifying and nourishing face, and improving constitution of whole organism.OBJECTIVE: To observe the influence of eggembryosin on aging index,quantity of hemocytes and quality of immune organs of animal models, and analyze its effect on cosmetology, anti-senility and immunoloregulation.DESIGN: Randomized controlled observation.SETTING: Department of Pharmacology, Xinxiang Medical College.MATERIALS: The experiment was carried out in the Department of Pharmacology of Xinxiang Medical College between April 1998 and September 2002. A total of 80 Kunming mice of both sexes were selected in this study.METHODS: ① Effect of eggembryosin on activity of superoxide dismutase (SOD) in serum, content of malondialdehyde (MDA), lipofuscin and hydroxyproline respectively in serum, liver and tendon of tail of aging mice: Thirty mice were divided into 3 groups according to randomly lined table, including eggembryosin group, D-galactose model group and normal control group with 10 in each group. The former two groups were injected with D-galactose to copy aging models, and eggembryosin group were perfused with eggembryosin to measure activity of SOD in serum, content of MDA, lipofuscin (aging index) and hydroxyproline (elasric index of skin) respectively in serum, liver and tendon of tail. ② Effect of eggembryosin on mass of immune organs of mice with low immunological function: Thirty mice were selected and divided as the same way mentioned above. Mice in eggembryosin group were perfused with eggembryosin. In addition, those in eggembryosin group and cyclophosphamide (CAP) group were peritoneally injected with CAP to copy immunosuppression models and calculate index of thymus (spleen) (mg/g) = weight of thymus (spleen)/body. ③ Effect of eggembryosin on quantities of erythrocytes and hemoglobin of mice with blood deficiency: Twenty mice were divided into 2 groups according to randomly lined table, including eggembryosin group and normal control group with 10 in each group. Values of erythrocytes and hemoglobins of mice were measured before administration. Models in types of blood-deficiency blood-loss were copied with tail xsanguinations, and then, mice were perfused with eggembryosin and saline, respectively. Blood of mice were collected from their tails to measure values of erythrocytes and hemoglobin.MAIN OUTCOME MEASURES: Activity of superoxide dismutase (SOD) in serum, content of malondialdehyde (MDA), lipofuscin and hydroxyproline respectively in serum, liver and tendon of tail of aging mice, index of thymus, and spleen, contents of blood erythrocytes and hemoglobins.RESULTS: A total of 80 mice were involved in the final analysis without any loss. ① Activity of SOD in serum and contents of hydroxyproline in tendon of tail of mice in eggembryosin group were significantly higher than those of mice in D-galactose model group (P ＜ 0.01); content of MDA in serum and content of lipofuscin in liver of mice in eggembryosin group were significantly lower than those of mice in D-galactose model group (P＜ 0.01). ② Indexes of thymus and spleen of mice in eggembryosin group were higher than those of mice in CAP group (P ＜ 0.05-0.01). ③ Increasing values of blood erythrocytes and hemoglobin of mice in eggembryosin group were significantly higher than those of mice in normal control group (P ＜ 0.01).CONCLUSION: Eggembryosin taken orally can improveanti-oxidation of organism and elasticity of skin, increase quality of immune organs damaged by CAP and immunological function, and nourish the blood.
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BACKGROUND:Huperzine A is a reversible choline enzyme(CHE) inhibitor initially developed in China,which has favorable therapeutic effectiveness in benign memory dysfunction,and could significantly promote the learning process and memory reappearance in rodent animals. OBJECTIVE:To comprehend the impacts of Huperzine A on the enhancement of learning, memory and behavior in platform and maze experiments in D Galoctose(Gal) induced senile mouse model. DESIGN:A randomized and controlled trial. SETTING:Institute of Pharmaceuticals of Xinxiang Medical College. MATERIALS:Study was performed in the Laboratory of Physiology and the Institute of Pharmaceuticals of Xinxiang Medical College from January to December in 2002.A total of 100 healthy Kunming mice were selected for platform and electric maze experiments with 50 mice in each experiment.Huperzine A tablet was obtained from Henan Zhulin Zhongsheng Pharmaceutical Company Limited(batch number:031001).D Gal is the product of Shanghai No.2 Reagent Factory. MAIN OUTCOME MEASURES:The latency in the safe area on the platform and the times of electric shock occurred within 5 minutes were observed in mice in platform experiment;the times of the mice mistakenly escaping to the right electric attacking area were observed in mice in electric maze experiment. CONCLUSION:Huperzine A can effectively improve the learning and memory ability of D Gal induced senile mice, and there is dose effect relationship within certain range. Qiu PY,Chen ZY,Wang YX,Zhang JX,Wu ZZ.Effects of Huperzine A on the memory and behavior in D galactose induced senile mice.Zhongguo Linchuang Kangfu 2005;9(4):247- 9(China) [www.zglckf.com]