Objective To investigate the gene defects of a pedigree with inherited coagulation factor Ⅺ (FⅪ) deficiency by analyzing its phenotype and molecular genetic characteristics. Methods A pedigree with inherited FⅪ deficiency was enrolled in this study. The activated partial thromboplastin time (APTF), prothrombin time (PT), FⅪ activity (FⅪ: C) and FⅪ antigen (FⅪ: Ag) were determined for phenotype diagnosis. Fifteen exons and their flanks of F11 gene from the proband's genomic DNA were amplified by polymerase chain reaction (PCR), and the PCR products were directly sequenced to analyze the F11 gene mutation. The PCR products amplified from genomic DNA from the proband, her parents and 100 healthy donors were digested with restriction enzyme BssSI to exclude gene polymorphism and confirm the mutation site. The cleavage site in the signal peptide was predicted by the SignalP software. Results The values of APTT, PT, FⅪ: C and FⅪ: Ag of the proband were 69.5 s, 12.3 s, 2.6% and 2.5%, respectively, indicating that this case was cross-reacting material (CRM) negative. The same values of healthy controls were 35 s, 13 s, 100% and 100%, respectively. As compared with Genbank AY191837 sequence, four variants in F11 exons were found. G3733C heterozygous mutation in exon 2 causod Gly to Arg substitution at-1 amino acid position in signal peptide (G-1R). The G3733C mutation in exon 2 introduced a new BssSI enzyme digestion site. Further analysis of the 100 randomly collected DNA samples from the normal population excluded the possibility of G3733C as a polymorphism. CI6642T heterozygous mutation in exon 8 introduced a premature stop codon at 263 amino acid position (Q263Term). Conclusions G-1R mutation and Q263Term compound heterozygous mutation in F11 gene are the mechanism of FⅪ deficiency for the proband. G-1R mutation is a novel F11 gene mutation causing inherited FⅪ deficiency.

OBJECTIVETo observe the effect of Qiju Dihuang Pill (QDP) on changes of Chinese medical syndrome types in pregnant women of Gan-Shen yin deficiency syndrome (GSYDS), and to explore the correlation between imbalanced cytokine levels and GSYDS.

METHODSThis was a random controlled trail. A total of 163 pregnant women of GSYDS at 12 -16 gestational weeks were randomly allocated into the experimental group (86 cases) and the control group (77 cases). Patients in the experimental group took QDP for 2 -4 weeks. Changes of Chinese medical syndrome types and serum interferon-gamma (IFN-gamma) and interleukin-4 (IL-4) levels were observed and compared between the two groups before and after treatment.

RESULTS(1) Totally 41 patients (47.7%) in the experimental group were transformed to normal Chinese medical syndrome type. In the same period of the follow-ups, 9 patients (11.7%) in the control group were transformed to normal Chinese medical syndrome type, showing statistical difference (P < 0.05). (2) In the experimental group, the serum level of IFN-gamma and the ratio of IFN-gamma/IL-4 in the peripheral blood were obviously lower after treatment than before treatment (P < 0.01), and obviously lower than those in the control group (P < 0.01). The level of IL-4 after treatment in the experimental group was higher than that before treatment, and also higher than that in the control group, but with no statistical difference.

CONCLUSIONSThese results indicated that there was imbalanced IFN-gamma/IL-4 ratio in the peripheral blood of pregnant women of GSYDS. QDP might play a role in immunoregulation by affecting the IFN-gamma level.

Adult ; Drugs, Chinese Herbal ; pharmacology ; therapeutic use ; Female ; Humans ; Interferon-gamma ; blood ; Interleukin-4 ; blood ; Medicine, Chinese Traditional ; Phytotherapy ; Pregnancy ; Yin Deficiency

AIM: To explore the relationship of central retinal vein occlusion ( CRVO) and atherosclerosis ( AS) .
METHODS:Fifty cases of CRVO patients were chosen as the observation group in our hospital from October 2012 to October 2014, other 50 patients with AS ( non-CRVO) as control group. In the control group, 22 cases of AS mild stenosis, moderate stenosis in 24 cases, 4 cases of severe stenosis ( 3 cases implanted stent ) . According to the severity, two grade prevention primary prevention therapy, and cerebral vascular disease treating stroke, corresponding drug treatment was undergone. Two groups of patients were performed cervical carotid artery color Doppler ultrasound examination, including assessing plaque, carotid artery intima-media thickness ( IMT) , the degree of stenosis of internal carotid artery blood flow velocity and the systolic peak ( PSV ) , end diastolic blood flow velocity ( EDV) , resistance index ( RI) values for kinetic parameters etc. All the indexes of the two groups were compared with color Doppler ultrasound examination results, to evaluate the correlation between CRVO and AS.
RESULTS: In the observation group, 15 cases were detected of carotid artery with mild stenosis, 28 cases of arterial diameter reduced <50%, carotid artery moderate stenosis, arterial diameter was reduced from 50% ~69%, 6 cases of carotid artery stenosis, arterial diameter was reduced from 70% ~99%, 1 patient with ipsilateral carotid artery near occlusion. In the control group, 22 cases were of AS mild stenosis, moderate stenosis in 24 cases, 4 cases of severe stenosis ( 3 cases implanted stent ) . The eyes with CRVO increased IMT, PSV and EDV decreased, RI value increased (P<0. 05). Compared with the control group, hypertension, hyperlipidemia, hypercholesterolemia, diabetes mellitus in observation group were statistically significant difference (P<0. 05). The control group of 2a of follow-up showed no recurrence during CRVO.
CONCLUSION: CRVO and AS are highly correlated, the neck of Doppler ultrasound examination can clearly reflect the central retinal vein blood supply, the standard treatment for AS disease, can reduce the risk of CRVO, with certain clinical significance.

Adolescent ; Anti-Arrhythmia Agents ; adverse effects ; therapeutic use ; Arrhythmias, Cardiac ; drug therapy ; physiopathology ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Sotalol ; adverse effects ; therapeutic use ; Treatment Outcome

Objectives To investigate and evaluate the preventive and therapeutic effects of celecox ib,a selective cyclooxygenase-2(COX-2)inhibitor,on multiple colorectal adenorna and compare it with aspirin.Methods Ninty-six patients with colorectal multiple adenoma were randomly divided into A,B and C groups.Adenomas in all patients were removed with high-frequency eleetrocoagulation,electroexci- sion or argon plasma coagulation(APC)under colonoscopy.Then,group A were administered celecoxib 200 mg twice daily,group B aspirin 50 mg twice daily,group C served as control.Colonoscopy was per formed every 6 months in the first year,and every year in order to observe and evaluate the recurrence rate of adenoma and the side effects after the treatment.Results Twenty-seven patients in group A,26 pa- tients in group B and 27 patients in group C had completed the treatment.At the end of the treatment, on PP/ITT analysis,the cure rate of the eolorectal adenoma were 84.4%/100% ,78.1%/96.2% and 75.0%/88.9% in group A,B and C,respectively.During the first year of follow-up,there were 1 ,1 and 6 cases which were found recurrences of the adenomas in group A,B and C,respectively.The recurrence rates of coloreetal adenomas in group A(3.7%)and group B(4.0%)were significantly low er than that in group C(24.0%) (P＜0.05 and＜0.05,respectively).At the end of follow-up,the total recurrence rate of colorectal adenomas in group A(14.80%)and group B(19.2%)were significant- ly lower than that in group C(46.2%)(P＜0.05 and＜0.05).While the side-effective rate regroup A (3.3%)was significantly lower than that in group B(22.5%)(P＜0.05).Conclusions After re- section of the multiple colorectal adenomas,both the selective inhibitor of COX-2,celeeoxib and the non- selective inhibitor of COX-2,aspirin,may reduce its recurrence rate,but the former has a good tolerance and lower side-effects.

Objective To investigate the antitumor therapeutic effect of combined therapy of magnetic induction heating by nano-magnetic particles, herpes simplex virus thymidine kinase gene(HSV-tk suicide gene) and internal radiation in mice bearing MCF-7 breast carcinoma. Methods The transfection reagents, plasmids heat shock protein-HSV-tk (pHSP-HSV-tk), ferroso-ferric oxide nano-magnetic fluid flow and 188Re-ganciclovir-bovine serum albumin-nanopaticles (GCV-BSA-NP) were prepared. The heating experiments in vivo were carried out using ferroso-ferric oxide nano-magnetic fluid flow. Sixty mice tumor models bearing MCF-7 breast carcinoma were established and randomly divided into six groups. Group A was the control group, B was gene transfection therapy group, C was hyperthermia group, D was gene transfection therapy combined with radionuclide brachytherapy group, E was gene therapy combined with hyperthermia group, and F was gene therapy, hyperthermia combined with radionuclide brachytherapy group. The tumor growth, tumor mass and histopathological changes were evaluated. The expression of HSV-tk in the groups of B, D, E and F was detected by RT-PCR. Poisson distribution and one-way analysis of variance (ANOVA) were used for statistical analysis by SPSS 10.0 software. Results In the animal heating experiments, the temperature of tumor increased up to 39.6 ℃, 43.2 ℃, and 48.1 ℃ quickly with different injected doses (2, 4 and 6 mg respectively) of nano-magnetic particles and maintained for 40 min. The temperature of tumor tissue reduced to 36.8 ℃, 37.5 ℃ and 37.8 ℃ in 10 min when alternating magnetic field (AMF) stopped. The tumor mass in Groups C ((452.50 ±30.29) mg), D ((240.98 ±35.32)mg), E((231.87 ±27.41) mg) and F ((141.55 ±23.78) mg) were much lower than that in Group A ((719.12±22.65) mg) (F=800.07, P＜0. 01), with the most significant treatment effect in Group F.The tumor mass in Group B((684.05 ±24.02) mg) was higher than that in Group D (t =32. 805, P ＜0. 05). Semi-quantitative RT-PCR analysis showed that the expression of HSV-tk in Groups B and D (0.33 ±0. 13 and 0. 46 ±0.12) was significantly different from that in Groups E and F (0.66 ±0.13 and 0.74 ±0. 11)(F = 21. 573, P ＜ 0.05). Conclusion Combined use of hyperthermia, gene therapy and radionuclide brachytherapy could effectively depress the growth of MCF-7 breast carcinoma, thus possessing treatment potential for this tumor.

Objective:To evaluate the anti-HIV-1 activity of two new nonnucleoside reverse transcriptase inhibitors (NNRTIs), JB25 and JB26, in combination with 3 approved drugs (AZT, EFV, SQV)in vitro.Methods:The serially diluted 10 concentrations of JB25 and JB26 were combined with 7 serially diluted AZT, EFV and SQV respectively.The combination was added to 384 cell culture plates and then cocultured with HIV-1 ⅢB infected MT-2 cells for 3 days. Finally, the HIV-1 production was determined by measuring the expression of reporter genes of TZM bl cells. The data were analyzed by MacSynergy Ⅱ software.Results:The average capacity of synergism/antagonism of JB25 with AZT, EFV and SQV was 244.45/-5.05(nmol/L)~2%, 119.58/-65.93 (nmol/L)~2% and 145.83/-0.32 (nmol/L)~2% respectively;the average capacity of synergism/antagonism of JB26 with AZT, EFV and SQV was 398.90/0(nmol/L)~2%, 103.62/-0.49(nmol/L)~2% and 138.473/-0.27 (nmol/L)~2% respectively. Conclusion:Two new NNRTIs JB25 and JB26 develop synergism when combined with 3 approved drugs, respectively. MacSynergy Ⅱ software could evaluate the anti-HIV-1 activity of drug combination.

OBJECTIVETo evaluate the clinical value of the comprehensive therapy of acupuncture, Chinese herbal medicine and rehabilitation in the treatment of post-stroke flaccid limb dysfunction.

METHODSThe four-center, single-blind, randomized and controlled research method was adopted, 240 qualified subjects were randomized into a comprehensive therapy group, an acupuncture group, a rehabilitation group and a Chinese herbal medicine group, 60 cases in each one, at the ratio of 1 1. In the comprehensive therapy group, the comprehensive therapy of acupuncture, Chinese herbal medicine and rehabilitation was applied. The acupuncture therapy included the scale acupuncture at middle line of vertex, lateral line 1 of vertex, lateral line 2 of vertex, etc. with the single reinforcing and reducing technique by the speed of needle insertion and withdrawal, and the body acupuncture therapy at the acupoints on the antagonistic muscles with the reinforcing and reducing technique by the needle rotation. The Chinese herbal medicine therapy included No. 1 stroke formula for the cases of liver and kidney yin deficiency and the upward disturbance of wind yang, No. 2 stroke formula for qi deficiency and blood stagnation, and the stagnation in meridians and No. 3 stroke formula for the interaction of phlegm and stasis and blockage of meridians according to the pattern/syndrome differentiation. The rehabilitation therapy focused on the promotion technique by putting the healthy limb. The simple acupuncture, rehabilitation and Chinese herbal medicine therapies as the comprehensive therapy group were applied in the acupuncture group, rehabilitation group and Chinese herbal medicine group separately. The Chinese medicine symptom, the limb motor function, the daily life activity, fainting needle reaction, allergic reaction and the others were taken as indices to evaluate the efficacy and safety of the treatment.

RESULTS(1) The results of the four indices named the Chinese medicine symptom, the limb motor function, the limb balance function, the daily life activity were all improved significantly after treatment as compared with those before treatment in four groups (all P < 0.01). (2) Concerning to the improvement degrees, the improvements of the above four indices in the comprehensive therapy group were more significant than those in the other three groups (P < 0.01, P < 0.05). The improvement in Chinese medicine symptom in the acupuncture group and the Chinese herbal medicine group were more significant than that in the rehabilitation group (both P < 0.05). The improvement of the upper limb motor function in the acupuncture group was more significant than that in the rehabilitation group and the Chinese herbal medicine group separately (both P < 0.05).

CONCLUSIONThe comprehensive therapeutic program of acupuncture, Chinese herbal medicine and rehabilitation is safe and effective in the treatment of post-stroke flaccid limb dysfunction. It is more advantageous in efficacy as compared with any simple therapy.

Activities of Daily Living ; Acupuncture Points ; Acupuncture Therapy ; Adult ; Aged ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Muscle Hypotonia ; drug therapy ; etiology ; rehabilitation ; therapy ; Stroke ; complications

To study feasibility of HLA-DRB1 matching by using denatured high performance liquid chromatography (DHPLC), 20 pairs of DNA samples from donors and recipients of hematopoietic cell transplantation (HCT) for DRB1 matching and 2 pairs of samples from donors and recipient of HCT for DRB1 mismatching were studied by DHPLC and PCR-SSP. After being amplified and annealed slowly to produce heteroduplex, PCR products for exon 2 of DRB1 were detected by DHPLC to find matched or mismatched peaks in chromatogram. The results showed that DHPLC and PCR-SSP were consistant with matched or mismatched HLA-DRB1 typing. The results of DHPLC and PCR-SSP for matching were compared by using kappa test (kappa = 0.776, P = 0.00), which suggested DHPLC for HLA-DRB1 matching was in agreement with PCR-SSP. In conclusion, DHPLC for HLA-DRB1 matching is economic and convenient, moreover, will not be affected by unknown genes in HLA-DRB1 locus.
Base Sequence ; Blood Donors ; Chromatography, High Pressure Liquid ; methods ; Feasibility Studies ; HLA-DR Antigens ; genetics ; immunology ; HLA-DRB1 Chains ; Hematopoietic Stem Cell Transplantation ; Histocompatibility Testing ; methods ; Humans ; Molecular Sequence Data ; Polymorphism, Genetic ; genetics

Objective: To observe the efficacy of herbal cake-partitioned moxibustion for lumbar disc herniation (LDH) due to kidney deficiency and blood stasis and observe the influence of this method on lumbar functions and inflammatory factors in patients with this condition. Methods: A total of 120 LDH patients who met the inclusion criteria were randomly divided into three groups, including a herbal cake-partitioned moxibustion group, a flour cake-partitioned moxibustion group, and a Western medication group, with 40 patients in each group. The patients in the Western medication group were treated with diflunisal tablets, 0.5 g per dose, 2 doses a day. Those in the herbal cake-partitioned moxibustion group were treated with additional herbal cake-partitioned moxibustion group at Back-Shu Points and Jiaji (EX-B2) Points once a day. Those in the flour cake-partitioned moxibustion group were treated with the same methods as in the herbal cake-partitioned moxibustion group, except that the herbal cake was replaced by a flour cake. All the patients were treated for 10 d. After treatment, the scores of the visual analog scale (VAS) and Japanese Orthopaedic Association (JOA) and the changes of the interleukin (IL)-6, tumor necrosis factor (TNF)-α, and substance P (SP) levels were observed, and the efficacy was evaluated. Results: After treatment, the VAS score and the levels of IL-6, TNF-α, and SP were lower than those before treatment, and the JOA score was higher than that before treatment in the three groups, indicating intra-group statistical significance (P<0.05). The VAS score and the levels of IL-6, TNF-α, and SP of the herbal cake-partitioned moxibustion group were lower than those of the flour cake-partitioned moxibustion group and the Western medication group, while the JOA score of the herbal cake-partitioned moxibustion group was higher than that of the other two groups, indicating inter-group statistical significance (P<0.05). The total effective rate of the herbal cake-partitioned moxibustion group was 92.5％, higher than that of the flour cake-partitioned moxibustion group (80.0％) and the Western medication group (72.5％), indicating inter-group statistical significance (P<0.05). Conclusion: On the basis of Western oral medication, additional herbal cake-partitioned moxibustion can alleviate the pain and improve the lumbar functions in patients with LDH due to kidney deficiency and blood stasis. The efficacy of the integrated method is better than that of either flour cake-partitioned moxibustion or Western medication alone, which may be related to the reduction of serum inflammatory factors.