Objective To find the possible relationship between defects in the FA/BRCA pathway of genomic maintenance and potential pathogenesis of acute myeloid leukaemia.Methods Twenty-five AML cell lines derived from diverse subtypes of AML were screened to investigate for possible defects in FA,BRCA patllway.Results The absence of FANCN protein in two cell lines,THP-1 and M-07e were observed,which was correlated with the results of MMC-induced G2 arrest,growth inhibition and chromosomal breakage test in both cell lines.But no gene aberrance in these two cell lines by MLPA test and DNA sequencing were found.Conclusion There is a possible relationship between defects in the FA/BRCA Dathway and potentialpathogenesis of acute myeloid leukaemia.A disturbance of theFA pathwaymay represent an early event in the development of this type of leukaemia.

OBJECTIVETo investigate the relationship between hormone sensitive lipase (HSL) gene polymorphism and aerobic endurance.

METHODSThe (CA)n repeats polymorphism genotypes in HSL intro 6 of 123 outstanding long distance runners and 127 controls of Han nationality in northern China were analyzed by PCR and Fluorescence labeled STR-genescan. Repeat polymorphisms were grouped according to segmentation point and alleles were divided into long or short chains. Chi-square test was used to analyze the frequency difference of allelic and genotypic between athlete and control groups.

RESULTS(CA) n repeats polymorphism in HSL gene was total of 9 different repeat number of alleles, which composed of 25 different genotypes. The chi-square test result showed that when compared short and long chain alleles split by 4, there was a significant difference (P <0.05) of genotype distribution in 5/10 km group compared with control. Compared the rest groups with control, there was no significant difference.

CONCLUSIONCompared short and long chain alleles split by 4, the LL genotype of (CA)n of HSL was associated with aerobic endurance and it might be a molecular marker of elite 5/10 km long distance runners.

Alleles ; China ; Ethnic Groups ; Genotype ; Humans ; Physical Endurance ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sterol Esterase ; genetics

OBJECTIVEE23K polymorphism in KCNJ11 gene is associated with cardiovascular disease and diabetes. In order to explore the mechanism of E23K correlation to related diseases, the effect of E23K polymorphism in KCNJ11 gene on membrane current was investigated.

METHODSThe exon of KCNJ11 was obtained by PCR amplification and the G-->A mutation was completed by overlap extension PCR. The sequences of KCNJ11 exon contained 23E or 23K was inserted into pcDNA3.1/CT-GFP vector respectively. The recombinant plasmid, pcDNA3.1-KCNJ11(E) and pcDNA3.1-KCNJ11(K), were transfected into HEK293T cells by lipofectamine and the membrane current density was determined by whole-cell patch clamp technique.

RESULTS1,173 bp sequences of KCNJ11 gene's exon were amplified by PCR and the recombinant expression plasmid, pcDNA3.1-KCNJ11(E) and pcDNA3.1-KCNJ11(K), were constructed successful. Positive and negative currents were detected in HEK293T cells transfected with difference plasmid by whole-cell patch clamp technique. Results showed that the reversed voltage was 50mV. The current in HEK293T cells with pcDNA3.1-KCNJ11(E) was significantly greater than that with pcDNA3.1-KCNJ11(K) (P < 0.05, n = 10).

CONCLUSIONThe polymorphism of E23K in exon of KCNJ11 gene changed the membrane currents in HEK293T cells. It could be an experiment support for the possible mechanism between the locus and related diseases.

Exons ; HEK293 Cells ; Humans ; Membrane Potentials ; Patch-Clamp Techniques ; Polymorphism, Genetic ; Potassium Channels, Inwardly Rectifying ; genetics

Objective To study whether p38 mitogen-activated protein kinases (p38MAPK) signal pathway were activated in the process of tumor necrosis factor-like weak inducer of apoptosis (TWEAK) which then induces rheumatoid arthritis (RA) fibroblast-like synoviocyte (FLS) to synthesize matrix metalloproteinase-1 (MMP-1) and look for the relative mechanisms of how TWEAK was involved in the destruction of articular bones and cartilage. Methods RA FLS were primarily cultured and stimulated with TWEAK. FLS were pretreated with SB203580 or not. ELISA was used to detect the concentration of MMP-1 in cell-cultured supernatant. Western blotting was used to detect the expression of p-p38MAPK and P65 in RA FLS. Results TWEAK (100 ng/ml) could induce RA FIS to synthesize MMP-1. SB203580 could partially inhibite the expression of MMP-1 producted by RA FLS which was induced by TWEAK. TWEAK could make p38MAPK phosphorylated and increase the expression of P65 protein in the cell nucleus. Conclusion TWEAK induces RA FLS to synthesize MMP-1. In this process, p38MAPK signal transduction pathway is activated and then induce the expression of NF-κB.

Objective To study the distribution of IL-10 and TNF gene polymorphisms in patients with gastroduodenal diseases in Hubei Han ethnic and their association with Helicobacter pylori (Hp) infection. Methods Six hundred and five patients with gastroduedenal diseases (196 chronic gastritis, 189 gastroduodenal ulcer and 220 gastric cancer) as well as 624 healthy controls were genotyped with PCR-RFLP method for IL-10-1082,-819,-592 and TNFα-308, lymphotoxin-α (LTα) Nco Ⅰ and AspH Ⅰ gene polymorphisms. Hp infection status was determined with ELLS& Results (1) There was significant difference of IL-10-1082 AG + GG genotype among the gastric cancer group with the non-malignant gastric diseases groups and healthy control group (P <0. 05). There was no significant difference of IL-10-592 and -819 gene polymorphisms among gastric cancer patients,non-malignant gastric disease patients and healthy controls (P>0. 05). The genotype frequencies of IL-10-819 were the same as those of IL-10-592. (2) Frequency of IL-10-1082 AG + GG genotype in gastric cancer patients with positive Hp was significantly higher than that in the other three groups (P < 0. 05). (3) Frequency of LTα Nco I AG genotype in gastric cancer patients with Hp infection was signiilcandy higher than that in Hp positive healthy controls (P < 0. 05). There were no other associations between TNFα-308, LTα Nco Ⅰ and AspH Ⅰ gene polymorphisms and Hp infection in gastroduodenal diseases. Conclusions (1) Allele AG + GG of IL-10-1082 was associated with gastric cancer in Han nationality of Hubei province. (2) IL-10-1082 AG + GG,LTct Nco ⅠAG heterozygous genotype may be associated with Hp infection in patients with gastric cancer in Han nationality of Hubei province.

Objective To investigate the effect of EST on function of sphincter of Oddi and on the long-term complications.Methods A total of 68 patients with common bile duct stones were recruited from January 2009 to January 2013 in The First People's Hospital of Hangzhou.All patients were under follow-up to observe the incidence of late complications after EST.Oddi sphincter manometry and bile bacterial culture were performed before EST and one year later.Results With the 13-36 months follow-up,the incidence of late complications was 16.9％ (11/65).The peak pressure and frequency of contraction of Oddi sphincter after EST were significantly lower than those before EST,but there were no significant differences between patients with complication and without (P ＞ 0.05).After EST,positive rate of biliary bacteria in patients with complications was much higher than that in patients without complications [70％ (7/10)vs.31.7％ (13/41),P =0.026],although there were no significant differences between them before EST [54.5％(6/11) vs.46.3％ (25/54),P =0.618).Logistic regression analysis showed that cholecystolithiasis,bile duct diameter (＞ 1.5 cm),number of stone (＞ 3),maximun diameter of stone (＞ 20 mm),large EST were independent risk factors for late complications of EST.Conclusion Importance should be attached to the late complications of EST with Oddi sphincter function declination,and biliary enteric reflux being the basic factor in late compilations after EST,which are also influenced by many risk factors.

Background Many researches confirmed that basic fibroblast growth factor (bFGF)plays an important role on the proliferation and differentiation of retinal progenitor cells,but its low intraocular permeability limits its clinical application.To explore an effective approach to enhance the intraocular permeability of bFGF has an important significance for the treatment of retinopathy. Objective This study was to investigate the effect of azone on bFGF intraocular permeability after its topical administration. Methods Eighteen New Zealand white rabbits were randomly divided into four groups on random number table method.Distilled water( blank control group),5％ bFGF eyedrops(5％ bFGF group ),0.4％ azone+5％ bFGF eyedrops (0.4％ azone + 5％ bFGF group ) and 0.4％ azone+ 10％ bFGF eyedrops (0.4％ azone + 10％ bFGF group)were topically administered in different groups at 5- minute interval for 3 times.Aqueous and vitreous fluid were extracted 30 minutes after administration of eyedrops,and those in the 0.4％ azone + 5％ bFGF group were obtained 30,60 and 120 minutes after administration.bFGF concentration in the aqueous and vitreous fluid was quantified with ELISA. Results The bFGF levels(A value)in aqueous and vitreous fluid were 0.1007±0.0100 and 0.1340±0.0100 after topical administration of the 5％ bFGF eyedrops,those in blank control group were 0.1363 ±0.0100 and 0.1130±0.0100,respectively,and those in the 0.4％ azone+5％ bFGF group and 0.4％ azone+10％ bFGF group were significantly higher than the 5％ bFGF group ( both P=0.000).However,no significant difference was found in bFGF levels between 0.4％ azone+5％ bFGF group and 0.4％ azone + 10％ bFGF groups in both aqueous and vitreous fluid ( P =0.985,0.098 ).A value of bFGF in aqueous was gradually increased with prolong of time in the 0.4％ azone+5％ bFGF group,with the values 0.9413±0.0300 at 30 minutes,0.3865±0.0300 at 60 minutes,and 0.2550±0.0300 at 120 minutes,showing a positive linear correlation between bFGF level and time( R2 =0.736,P =0.003 ),but no significant correlation was seen in vitreous sample(R2=0.196,P=0.233). Conclusions Azone can improve the intraocular penetration of bFGF eyedrops.Increasing the concentration of bFGF in eyedrop from 5％ to 10％ dose not change its intraocular distribution.The highest content of the bFGF in aqueous is at 30 minutes following the administration of 0.4％ azone+5％ bFGF eyedrops.

Abstract?AIM: To evaluate the clinical application of IOL Master by comparing with traditional ultrasound biometry on the accuracy and characteristics of intraocular lens calculation.?METHODS:Data was analyzed from 164 patients ( 206 eyes ) with age - related cataracts who underwent phacoemulsification and intraocular lens ( IOL ) implantation in our hospital from June 2014 to June 2015. Before surgery, axial length and corneal curvature were measured with IOL Master and combined application of ultrasonic or manual keratometry, respectively. Phacoemulsification and foldable lens implantation were done in the patients. IOL power calculation was carried out using the SRK-Ⅱformula with the basis of IOL Master data. The visual acuity and refractive outcome were followed-up for 3mo postoperatively.?RESULTS:There was a significant difference between the two methods on axial length measurement which was 23. 86 ± 1. 05mm by IOL Master and 23. 50 ± 0. 83mm by ultrasound ( P = 0. 025 ). There was also a significant difference between the two methods on corneal curvature measurement which was 44. 18 ± 1. 35D by IOL Master and 43. 70 ± 1. 41D by keratometry ( P = 0. 01 ). The mean absolute error(MAE), at 3mo after operation, was 0. 41± 0. 30D and 0. 93 ± 1. 10D by the IOL Master and ultrasound groups, respectively, there was a significant difference between the two methods(P=0. 027).?CONCLUSION:The IOL Master is a non-contact, safe,easy-to-do and patient-friendly methods for axial length and corneal curvature measurement with high accuracy, thus it can calculate the IOL power more accurate and improve the predictive value for postoperative refraction.

Objective To assess the diagnostic value of combining aortic dissection detection risk score (ADDRS)with D-dimer in patients with suspected acute aortic dissection(AAD). Methods We retrospectively identified 525 patients with chest pain and with calculated ADDRS and available D-dimer on admission between January 2015 and December 2016. ADDRS ≤1 was defined as ′low probability′ and that >1 as ′high probability′. Results AAD were diagnosed in 106(20.2%)patients. In patients with ADDRS of 0,1 case of AAD was identi-fied and in those with ADDRS of 1,40 were identified while in 76 patients with ADDRS of 2 and 3,71 cases of AAD were identified. D-dimer with threshold of 0.5 mg/L had a negative predictive value of 100%and a specificity of 76.6% in patients with ADDRS of 0. In patients with ADDRS of 1,D-dimer had a negative predictive value of 98.6%. D-dimer showed a negative predictive value of 99.6% and a positive predictive value of 22.3% in patients with low probability. Conclusions High ADDRS benefits confirming AAD. Low ADDRS combined with negative D-dimer is safe and efficient for ruling out AAD ,while low ADDRS with positive D-dimer needs further aortic imaging.

ObjectiveTo investigate the relationship between tumor necrosis factor (TNF) α308,TNF-β252 genotypes and serum TNF-α and TNF-β levels in patients with gastric cancer (GC).MethodsA total of 57 pathological diagnosed GC patients were collected,of which 49 cases were from Zhongnan Hospital of Wuhan University and 8 cases were from Tumor Hospital of Hubei Province.Another 18 age and sex matched healthy controls were enrolled at the same time.The TNF-α308 and TNF -β252 polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).The serum TNF-α and TNF-β levels of 57 GC patients and 18 healthy controls were measured by ELISA.The difference of TNF serum level in different TNF genotypes of GC and the difference between GC patients and the healthy controls was analyzed.Its relationship with clinical pathological characters was also analyzed.Results With TNF-α308 genotype,GA were 6 cases and GG were 51 cases.With TNF-β252 genotype,GG were 17 cases,GA and AA each were 20 cases.The serum TNF-α level of GC patients was significant higher than that of healthy controls (median 445 × 10-3 μg/L vs 5 × 10-3 μg/L,P＜0.05),and the serum level of each TNF-α308 andTNF-β 252 genotypes was significant higher than that of healthy controls (P＜0.05).However there was no statistical significance in TNF -β level compared with healthy controls (P＞0.05).In addition,the serum TNF-α levels of the TNF-α308G/TNF-β252G and TNF-α308G/TNF β252A haplotypes in GC patients were significant higher than those of the healthy controls (P＜0.05),and the increase like serum TNF-α level was associated with the patients'age and lymph node metastasis (P＜0.05).The TNF-β level in patients with TNF-α308A and TNF-β252G high-risk haplotypes showed a significant relation with smoking history (P＜ 0.05). Conclusions Serum TNF-α level of GC patients was significantly higher,however there was no significant association between the increase and TNF-α308 and TNF-β252 genotypes.The serum TNF-α levels of TNF-α308G/TNF-β252G and TNF-α308G/TNF-β252A haplotypes in GC patients were significant higher,and associated with the patients'age and lympb node metastasis.It was indicated that TNF haplotypes may have certain impact on the TNF expression and clinical subtypes in GC.