Congresses as Topic ; Humans ; Lysosomal Storage Diseases

Adenosine Triphosphatases ; genetics ; Alanine Transaminase ; blood ; Cation Transport Proteins ; genetics ; Ceruloplasmin ; metabolism ; Child ; Copper ; blood ; urine ; Copper-transporting ATPases ; Cornea ; pathology ; Diagnosis, Differential ; Genetic Testing ; Hepatolenticular Degeneration ; blood ; diagnosis ; genetics ; metabolism ; Humans ; Liver ; metabolism ; pathology ; Liver Function Tests ; Mutation

Objective:To study the clinical effect of etanercept combined with methotrexate in the treatment of rheumatoid arthritis ( RA) . Methods:Totally 62 patients with RA from May 2014 to May 2015 in our hospital were divided into the observation group and the control group with 31 cases in each according to the random number table. The control group was treated with methotrexate (10mg, po, once a week), the observation group was treated with etanercept (25 mg, twice a week) additionally, and the treatment course was 12 weeks. Before and after the treatment, serum TL1A, TNF-a, IL-6 and IL-17, time of morning stiffness, joint swelling, tenderness and pain change scores in the two groups were studied and compared. The clinical efficacy and adverse reactions of the two groups were analyzed as well. Results:After the theatment, compared with before theatment, two groups’ TL1A, TNF-a, IL-6 and IL-17 had de-creased, and observation group was lower than control group(P<0. 05). Two groups’ time of morning stiffness have shortened, and the joint swelling, tenderness and painscores were significantly decreased, and each index in the observation groups were better than control group(P<0. 05). The total effective rate of the observation group was higher than the control group(P<0. 05). There was no significant difference about adverse reaction in the two groups(P>0. 05). Conclusion:Etanercept combined with methotrexate in the treatment of RA can reduce serum levels of TL1A, TNF-a, IL-6 and IL-17, and significantly alleviate joint swelling, tenderness and pain symptoms with high safety.

The (GCT)o polymorphism of the MICA gene was investigated in 100 patients with latent autoimmune diabetes in adult (LADA) and 145 healthy controls by PCR and denaturing polyacrylamide gel electrophoresis.The A5.1 allele was present at a significantly higher frequency in LADA group (0.340) than that in control group (0.183) (P

Aim This study examined the uptake and transport of ecdysterone(EDS) using Caco-2 cell monolayers as a model of human intestinal mucosa.Methods Two kinds of Caco-2 cell monolayer model(Caco-2 cell monolayers;CYP3A4 expressing Caco-2 cell monolayers) were set up to study the uptake and transport of EDS.Results Compared bi-directional charaterizaton of Caco-2 cell,the apparent permeability coefficients(Papp) values of EDS were between 0.1?10-6 cm?s-1 and 1?10-6 cm?s-1.EDS absorption was 1%~10% for two kinds of Caco-2 models.The RPapp values were all less than 1.5 for 4 h.Conclusions The uptake and transport of EDS was a passive transcellular diffusion mechanism.Ecdysterone was not influenced by CYP3A4 mediate mechanism.

CXCR4 has long been considered as the unique receptor of CXCL12,and CXCL12/CXCR4 axis plays a prominent role in tumorigenesis.However,a novel receptor for CXCL12,named CXCR7,has been recently identified and also plays an important role in tumorigenesis.This review summarized current studies regarding the functions of CXCR4 and CXCR7 in cancer and the recent therapeutic approaches that target these receptors or their ligands.

Ring finger protein 43 (RNF43) is a ring-type E3 ubiquitin ligase.As a negative regulater of Wnt signaling pathway, RNF43 has an important anti-tumor effect.The mutation of RNF43 may cause abnormal activation of Wnt signaling pathway, and then promote invasion, metastasis and proliferation of tumor cell.In addition, the act of RNF43 protein in the Wnt signal pathway is expected to be a molecular target in the therapy of cancer.In recent years, with the gradual deepening of related research, the molecular structure of RNF43 protein and its mechanism of action with the Wnt pathway-related proteins have been gradually clear.In clinical, RNF43 protein analogs and related vaccine also show the important position in the therapy of cancer.

Genetic factors are important causes of male infertility and account for about 30%infertility cases.Therefore, it is necessary to carry out molecular and genetic detections in the diagnosis and treatment of male infertility.Here the most commonly used techniques for molecular and genetic diagnosis of male infertility in recent years are discussed , including chromosomal abnormities analysis , Y chromosome microdeletions detection , gene mutation screening and sperm quality and function examination.

Objective To investigate the plasma separation after samples to laboratory under different centrifugal conditions of b-type natriuretic peptide (BNP)the influence of the test results.Methods Randomly selected 20 cases of hospitalized patients at our hospital,the vacuum EDTA-K2 anticoagulant blood,respectively from several different centrifugal speed and time after centrif-ugal separation of plasma,the Siemens ADVIA Centaur CP on automatic chemiluminescence meter yet.Results Based on the same patients at the same time of blood specimens,under different centrifugal conditions and preparation of plasma BNP results meas-ured by comparative analysis,the centrifugal rotational speed of 3 000 r/min,the centrifugal time reach more than 5 min for the plasma specimens centrifugal conditions required by the test results and the kit standard preparation of plasma determination results difference has no statistical significance (P >0.05).Conclusion As soon as possible in order to determine the BNP as a result,es-pecially emergency specimens at night,when the centrifugal rotational speed and time to meet the 3 000 r/min and 5 min,can ob-tain accurate detection results,for clinical results as soon as possible for the BNP,diagnosis heart failure to win the time.