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Objective:To investigate the influences of SCN3A gene polymorphism(c.905A>G/p.N302S and c. 1441C>T/p.L481L) on the efficacy of valproic acid sodium in the treatment of Zhuangzu epilepsies.Methods:Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)technique and the way of direct sequence, the SCN3A gene c. 905A>G/p.N302S and c. 1441C>T/p.L481L genotypes in peripheral blood were detected in 244 epileptic patients (85 cases in effective group and 139 cases of ineffective group) in the standardized treatment of valproic acid sodium.The blood concentration of valproic acid sodium was detected by LC-MS.Evaluating the correlation between the genotype and alleles of two groups of patients and the efficacy of valproic acid sodium and analyzing the difference of valproic acid sodium's blood concentration between different genotypes.The linkage disequilibrium of c. 905A>G/p.N302S and c. 1441C>T/p.L481L were analyzed by software SHEsis.Results:The allele and genotype distribution in c. 905A>G/p.N302S loci between effective group(A, G allele: 50.6%, 49.4%, AA, AG, GG genotype: 27.1%, 47.1%, 25.8%) and ineffective group(A, G allele: 37.4%, 62.6%, AA, AG, GG genotype: 16.6%, 41.7%, 41.7%) had statistically significant difference(χ 2=7.501, P=0.006; χ 2=7.907, P=0.019). There was no significant difference in allele and genotype distribution of c. 1441C>T/p.L481L loci between effective group(C, T allele: 47.1%, 52.9%, CC, CT, TT genotype: 23.5%, 47.1%, 29.4%) and ineffective group(C, T allele: 38.8%, 61.2%, CC, CT, TT genotype: 18.7%, 40.3%, 41.0%)(χ 2=2.920, P=0.088; χ 2=3.099, P=0.212). Compared with the AA + AG genotype, the GG genotype at c. 905A>G/p.N302S locus significantly reduced the efficacy of valproic acid sodium ( OR=2.051, 95% CI=1.136-3.703). Compared with genotypes AA+ AG, there were no significant differences in blood concentration of genotype GG of c. 905A>G/p.N302S ( t=3.256, P=0.137). Compared with genotypes CC+ CT, there were no significant differences in blood concentration of genotype TT of c. 1441C>T/p.L481L( t=4.628, P=0.082). c.905A>G/p.N302S and c. 1441C>T/p.L481L were without linkage disequilibrium. Conclusion:These results suggest that the single nucleotide polymorphisms of c. 905A>G/p.N302S in SCN3A genes may play a role in the resistivity of valproic acid sodium in Zhuangzu epilepsies.
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OBJECTIVE@#To assess the association of single nucleotide polymorphisms of SCN1A gene with therapeutic effect of carbamazepine among ethnic Zhuang Chinese patients with epilepsy.@*METHODS@#Peripheral blood samples were taken from 186 epileptic patients for whom 66 cases standard regime of carbamazepine treatment was effective. Genotypes of rs3812718 and rs1813502 loci of the SCN1A gene were determined by Mass ARRAY-IPLEX and matrix assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Correlation between genotypes of patients and efficacy of carbamazepine treatment was analyzed.@*RESULTS@#Three genotypes (GG, GA and AA) were detected at both rs3812718 and rs1813502 loci of the SCN1A gene. A significant difference was found in allelic distribution (chi-square=17.810, P=0.000) and genotypic distribution (chi-square=17.873, P=0.000) of the rs3812718 locus between the effective group and ineffective group. No such difference was found with the rs1813502 locus (chi-square=1.606, P=0.206; chi-square=1.546, P=0.462, respectively). Compared with the GG+GA genotype, the AA genotype at rs3812718 locus significantly reduced the antiepileptic efficacy of carbamazepine (OR=3.776, 95%CI: 2.007-7.105). Among the 66 patients who were responsive to carbamazepine treatment, those with the AA genotype for rs3812718 or rs1813502 shown no significant difference in their blood concentration of carbamazepine compared with those with the GG+GA genotype (t=1.562, P=0.125; t=0.843, P=0.562, respectively). rs3812718 and rs1813502 were not in strong linkage disequilibrium.@*CONCLUSION@#Polymorphisms of rs3812718 of the SCN1A gene is associated with carbamazepine resistance among ethnic Zhuang Chinese epilepsy patients from Baise region.
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Humans , Anticonvulsants , Carbamazepine , Epilepsy , Genotype , Polymorphism, Single NucleotideABSTRACT
Objective To investigate the relationship between the single nucleotide polymorphisms of SCN1A genes and the therapeutic effects of carbamazepine in Zhuang population with epilepsies. Methods We used Mass ARRAY-IPLEX and matrix assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) technology to detect the SCN1A gene rs4667869 and rs10497275 genotypes in peripheral blood of186 Zhuang individuals with epileptic (66 cases in effective group and 120 cases of ineffective group) who received the standardized treatment of carbamazepine in Baise Region. The reversed phase high-performance liquid chromatography was used to determine blood drug level of carbamazepine. The correlations between the genotypes, alleles and the carbamazepine efficacy of the two groups were evaluated, respectively. We also analyzed the difference of carbamazepine's blood concentration between different genotypes. Results Three genotypes of GG, GC and CC were detected in rs4667869 locus. There were 3 genotypes of GG, GA and AA found in rs 10497275 locus.The differences in the allele distribution (χ2 = 11.790, P = 0.001) and genotype distribution (χ2= 10.655, P =0.005) of the rs4667869 locus were statistically significant between the two groups (ineffective group vs. effective group). However, there was no significant difference in allele distribution (χ2 = 3.335, P= 0.068) and genotype (χ2= 3.046, P = 0.218) for rs 10497275 locus in these two groups. Compared with the GG + GC genotype, the CC genotype of rs4667869 locus significantly reduced the antiepileptic efficacy of carbamazepine (OR = 2.800, 95％CI : 1.495～5.244). W hile there were no significant differences in blood concentration of genotype CC (t=1.273, P = 0.083) comparing with genotypes GG + GC in rs4667869. No significant differences were found in blood concentration between genotype AA and genotypes GG + GA of rs 10497275 (t= 0.963, P = 0.064). Conclusions These results suggest that the single nucleotide polymorphisms of rs4667869 in SCN1A genes could be associated with the drug resistance of carbamazepine in Zhuang population with epilepsies.
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Background The ultrasonography for silicone tamponade eye is a problem in diagnosis and treatment of eye diseases,especially for the calculation of intraocular lens (IOL) power.IOL Master is usually used to the biometric measurement of the silicone tamponade eye in well-equipped hospital,but it is still disabled in serious cataractous eyes.Corrective B or A-type ultrasound methods have been used for a fewer years,but these measured results are incomparable probably due to the difference of viscosity of silicone oils.Objective This study attempted to investigate the accuracy of B-type ultrasonography for ocular axial length (AL) measurement in silicone tamponade eyes.Methods The transmitting speed of ultrasonic wave in the silicone oil was determined by comparing the outcomes between balance solution mesuring and 5 500 mPas silicone oil,and a calculating formula for corrective ocular AL in 5 500 mPas silicone filled eyes was further established.Thirty-two eyes of 30 patients who received 5 500 mPas silicone oil tamponade due to complex retinal detachment were enrolled in Qingdao Hiser Medical Group from May 2012 to March 2014.The eyes were assigned to the AL＜26 mm group (18 eyes of 16 patients) and AL≥26 mm group (14 eyes of 14 patients).B-scan ultrasound and IOL Master were used to measure the AL before the removal of the silicone oil,and the Als were measured again using A-scan ultrasound and B-scan ultrasound 3 months after the removal of the silicone oil.The outcomes were compared and the correlations were evaluated among different measuring methods.The vitrous length values before and after removal of the oils,and the diopters before and after intraocular pressure (IOP) implantation were compared to varify the results of B-type sonography for 5 500 mPas silicone-tamponade eyes.Results The transmitting speed of sound wave in 5 500 mPas silicone oil was 1 023 m/second with the conversion factor 0.668 between silicon oil eyes and vitreous cavity,and the corrected formula for AL measurement was:the length form cornea apex to the posterior pole of lens or the center of the capsular membrane+ 0.668×the length form posterior pole of lens or the center of the capsular membrane to the macular area.No significnant differences were found in the AL values among the corrective-B scan,IOL Master method,postoperative Bscan method and A-scan method both in the AL＜26 mm group and the AL≥26 mm group (AL＜26 mm:F=0.108,P =0.955;AL ≥ 26 mm:F =0.011,P =0.998),and the AL values by corrective B-scan was significantly correlated with that by IOL Master,postoperative B-scan and A-scan,respectively (AL＜26 mm group:r =0.876,0.921,0.809,all at P＜0.01;AL ≥ 26 mm group:r =0.943,0.956,0.955,all at P＜0.01).The vitreous cavity depth was (20.78 ±2.13)mm by corrective B-scan in 1 day before the removal of silicone,and that in 3 months after removal of silicone was (20.89±2.16) mm,without statistical diference between them (t =0.795,P =0.219).The actual postoperative refraction in 16 eyes with IOL was (-1.25 ± 1.69) D,and preoperative refrection was (-1.50 ±0.00) D,the difference was not statistically significant (t =0.585,P =0.284).Conclusions The biometry of B-scan ultrasonography for silicone-tamponade eye is accurate and simple,with a good feasibility in clinical measurement.
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Objective To discuss the effect of microRNA -27a on U251 glioma cells.Methods Over-expression or inhibition of miR -27a in U251 glioma cells were done by transient transfection of miR -27a mim-ics or AMO-27a in vitro.Cell viability was detected by MTT assay .Invasion ability of U251 was detected by tr-answell invasion assay.The level of miR-27a and PPARγwere detected by real -time PCR.Results Under in-hibition of miR-27a condition,the proliferation and invasiveness of U 251 glioma cells were decreased .The level of PPARγwas significantly increased ,whereas the level of miR-27 a was decreased .Overexpression of miR-27 a increased the proliferation and invasiveness of U 251 glioma cells and decreased the level of PPARγ.Conclusion Inhibition of miR-27a is benefit for inhibiting the proliferation and invasiveness of U 251 glioma cells.
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Objective To investigate the effect of microRNA-204(miR-204)on autophagy in U251. Methods Inhibition of miR-204 in U251 cell lines was done by transfection of miR-204 inhibitor(AMO-204) .Cell viability was detected by MTT assay.The autophagy of U251 was tested by immunofluorescence tech-nique.The protein level of Beclin 1,LC3 and Bcl-2 was detected by Western blot.Results Cell viability was markedly increased after inhibition of miR-204 in U251 cells.The number of autophagosome was decreased.The levels of Beclin 1 and LC3 were decreased,the protein level of Bcl-2 was significant increased by transfection of AMO-204 in U251 cells(P<0.05).Conclusion MiR-204 might at least in part promote glioma via inhibi-ton autophagy,indicating that miR-204 might be a potential target for the treatment of glioma.
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Objective To understand the basic situation and the influencing factors of medical expenses of the inpatients in Haikou city for the government to developing a scientific control policy of medical expense or improving the existing measures for controlling the medical expense.Methods Totally 463 inpatients from 10 hospitals were conducted the questionnaire survey and the survey data were analyzed.Results The difference of medical costs constituent existed in different medical institutions and the me-dian of drug costs to the total medical costs in general hospital was 42.13%.30.02% (139/463)of the surveyed inpatients thought that the use of “new techniques,new drugs and new equipments”was the primary cause of medical costs rising.51.19%(237/463) of patients thought that the primary considered factor is “cure”when seeing a doctor.24.84%(115/463)of patients did not known the modification of medical insurance policy.46.00%(213/463)and 28.51%(132/463)of patients thought that the main responsi-bility main body for controlling the medical costs rising is government and hospital respectively.Conclusion Increasing the medical insurance policy advocacy,promoting the reform of medical insurance payment methods,strengthening the dominant position of gov-ernment control medical costs and rationally allocating the medical resources conduce to reduce the medical costs rising.
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ObjectiveTo study the clinical value and efficacy of intracranial hemorrhage smashpuncture needle with YL-1 type disposable under CT monitoring in treatment of hypertensive intracerebral hemorrhage.MethodsThe data of 80 cases with hypertensive intracerebral hemorrhage patients who accepted the transcranial puncture under CT monitoring application of YL-1 type disposable intracranial hemorrhage smash puncture needle and drainage of hemorrhage,punctuated with urokinase washout and drainaged residual blood clot.Evaluation criteria:hemorrhage volume reduction,average operation time,preoperative and postoperative Glasgow coma scale(GCS) score,the clinical effect of long-term follow-up.ResultsOperation time was 15-45 (25.0 ± 2.8) minutes;hemorrhage volume was reduced by an average of 30％-80％ (56.8 ± 3.2)％,the average increase of GCS was(2.3 ±0.3) scores,10 cases death in 80 patients,70 survivors' activities of daily living (ADL) assessments:grade ADL 1 in 17 cases ( 24.3 ％ ),grade ADL2 in 36 cases( 51.4％ ),grade ADL3 in 13 cases ( 18.6％ ),grade ADL4 in 3 cases(4.3％ ),grade ADL5 in 1 case ( 1.4％ ).ConclusionsYL-1 type disposable intracranial hemorrhage smash puncture needle under CT monitoring in the treatment of hypertensive intracerebral hemorrhage is a simple,fast and accurate positioning,without craniotomy and blood transfusion,safe and effective operation,but should pay attention to operation indications.
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Objective To investigate the diagnosis and treatment of the accessory breast cancer with breast cancer.Methods Five patients with accessory breast cancer were admitted,among of them,1 case with breast cancer,and their documents were retrospectively analyzed.Results Of the 5 cases,1 case underwent modified radical mastectomy,the other 4 cases underwent accessory breast enlarged resection and axillary lymph node dissection.They all received chemotherapy and radiotherapy and 1 case received tamoxifen therapy.Four cases were followed up for 2 years,there was no recurrence and metastasis,1 case was received CAP sequenced chemotherapy.Conclusions Accessory breast cancer is rare but aggressive.The diagnosis is mainly depended on imaging results and postoperative pathology.Combined therapy principle dominated by surgery should be followed.The operation of accessory breast enlarged resection and axillary lymph node dissection should be indicated.
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Objective To investigate the time course of nuclear factor-κB(NF-κB) and the effects of pyrrolidine dithiocarbamate (PDTC) on the expressions of NF-κB,tumor necrosis factor-α (TNF-α) and interleukin1β(IL-1β) in hippocampus after seizures.Methods Epilepsy were induced by [PTZ] through Intraperitoneal injection.Western blotting was used to detect NF-κB p65 expression in nucleus at various experiment groups in different time points( 14d,21 d,28d,35d).Moreover,mRNA and protein expressions of TNF-α and IL-1β in different experiment groups in different time points by Real-time quantitative PCR and ELISA analysis.Results The expression of NF-κB p65 began to increase in the nuclear fraction in 14d,kept rising in 28d and returned to 14d level in 35d after epilepsy seizures,At 14d,21d,28d and 35d,the expressions of NF-κB in PDTC groups ( (0.54 ±0.07),(0.65 ± 0.08 ),(0.78 ± 0.10),(0.78 ± 0.10) ) was significantly lower than those in PTZ groups ((1.20 ±0.11),(1.42 ±0.14),(1.88 ±0.16),(1.25 ±0.10)) (P＜0.01).After epilepsy seizures,the expression of TNF-α 、IL-1β mRNA was increased in PTZ groups( ( 1.34 ±0.13,0.81 ± O.17 ),( 1.64 ±0.17,1.56±0.20),(2.03 ±0.16,1.65 ±0.18),(1.40 ±0.10,1.30 ±0.13) ) than those in NS groups(P＜0.01 ) ;and compared with PTZ groups PDTC significantly decrease the mRNA expressions of TNF-α and IL-1 β in PDTC groups( (0.96 ±0.1,0.57 ±0.07),(1.36 ±0.15,1.09 ±0.18),(1.47 ±0.14,1.25 ±0.16),(1.12 ±0.12,O.85 ± 0.12) ) (P ＜ 0.05 ).The expressions of TN F-α,IL-1β protein were similar in hippocampal by ELISA.Conclusion Seizures induces NF-κB nucleus translocation and promotes the expressions of TNF-ot and IL-1 β in hippocampus and pyrrolidine dithiocarbamate suppresses NF-κB associated inflammatory pathway in epileptic rat hippocampus.
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Objective:To observe the effect of combined acupuncture and medication for hypertension due to type 2 diabetes and plasma Neuropeptide Y (NPY).Methods:Sixty cases with hypertension due to type 2 diabetes were randomized into two groups.Thirty cases in the treatment group were treated with acupuncture and oral extended release nifedipine tablets,while 30 cases in the control group were treated with oral extended release nifedipine tablets alone.After 15 d of treatment,the blood pressure and NPY contents in two groups were observed.Results:The blood pressure and NPY contents in the two groups were remarkably reduced (P＜0.01) and the effect in the treatment group was superior to the control group(P＜0.01).Conclusion:Combined acupuncture and medication can significantly reduce blood pressure and the NPY contents.
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Objective To study the expression of CD44 gene in non-small cell lung cancer(NSCLC) tissue and the relationship with prognosis.Methods The expressions of CD44 gene in 36 specimens from 36 patients with NSCLC were determined by RT-PCR and all the patients were followed up for 3 years.Results CD44 gene was excessively expressed in 21 of 36 specimens of NSCLC tissues,excessive expression rate was 58.3%.The expression of CD44 mRNA in NSCLC tissue was related to metastasis of lymph node(?2 =9.787,P
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Objective To investigate value of color Doppler flow imaging(CDFI) and Doppler power imaging(CDPI) in the diagnosis of choroidal detachment(CD). Methods Color Doppler ultrasound was performed in 30 cases with choroidal detachment. At the base of eyeball shape, lens, vitreous and retina examined by ultrasound, intraocular band-shaped echo was examined by CDFI and CDPI, to understand its blood flow. The observation was compared with that of surgical results. Results Of 30 cases with choroidal detachment, the diagnostic positive correspondonce of ultrasound was 80.0%, while ultrasound combined with CDFI and CDPI, the correspondence increased up to 96.7%. The sonographic features of CDFI and CDPI in choroidal detachment patients were abundant blood flow in band-shape or short stick-like. In 3 cases out of 4 cases with retinal detachment, blood flow was not abundant,their blood flow showed a sparked pattern. In addition, 14 cases combined with vitreous hemorrhage, 8 cases had vitreous opacity and 4 cases vitreous proliferation. Ultrasound diagnosis corresponded with that of clinical surgery in 27 choroidal detachment cases. Conclusions Ultrasound combined with CDFI and CDPI provide valuable references for diagnosis and treatment of choroidal detachment.
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Objective To evaluate the effect of operation on breast duct fishtula. Methods 41 patients with breast duct fitula were subjected to fistulectomy or mastectomy. Results All patients had no re ccurrence after operation from 0.5 to 17 years. The clinical analysis showed that the causes of breast duct fistula were bacterial infection, retracted nipple, tissuration in the middle of nipple and breast duct dialation. Conclusions Fistulectomy or mastectomy is the most effective treatment of breast duct fistula.
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ObjectiveTo investigate the value of ultrasound on the diagnosis of posterior dislocation of the lens. MethodsThe eyes of 38 patients with different kinds of posterior dislocation of the lens were examined by color Doppler ultrasound to understand location, forms, and echogram of the lens and relation with their environmental tissues. ResultsOf 38 cases, 13 cases with complete posterior dislocation of the lens, 3 cases with posterior dislocation of intraocular lens, and 22 cases with incomplete posterior dislocation of the lens were proved. Also, 4 cases with vitreous hemorrhage, 13 cases with vitreous opacity and fibrous membrane, 15 cases with posterior detachment of the vitreous, 3 cases with retinal detachment were found. In addition, 33 cases underwent vitrectomy combining lensectomy or removal of the lens, among them, diagnostic ratio of ultrasound was 100%. ConclusionsHigh practical value is shown in posterior dislocation of the lens by ultrasound as one of the important methods on the diagnosis. At the same time, it provides valuable references for choosing surgical methods of posterior dislocation of the lens.
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Objective:To investigate the relation between eotaxin, STAT6 and allergic rhinitis through comparing expressions of eotaxin and STAT6 in nasal mucosa of normal guinea pigs and of guinea pig allergic rhinitis models. Methods: Twenty-four healthy guinea pigs were equally randomized into 2 groups: normal control and allergic rhinitis models. Guinea pig allergic rhinitis models were established by the ovalbumin challenge method. Protein expressions of eotaxin and STAT6 in the nasal mucosa of the 2 groups were detected by immunohistochemical technique. Results: Expressions of eotaxin and STAT6 were found in the nasal mucosa of both normal guinea pigs and allergic rhinitis guinea pigs. Eotaxin was mostly located in the cytoplasm of the serous and mucous glands,while STAT6 mostly in the cytoplasm of subepithelial infiltrative cells.Expressions of eotaxin and STAT6 in the nasal mucosa of allergic rhinitis guinea pigs were significantly higher than those of normal guinea pigs~(P