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.

Objective To explore the cause and effective management and prevention of septic shock after minimally invasive percutaneous nephrolithotomy (MPCNL) in the elderly.Methods Clinical data of 13 patients with septic shock after MPCNL in our hospital were retrospectively analyzed,and the cause,prevention and treatment of septic shock were investigated.Results The incidence of septic shock in patients undergoing MPCNL was 3.54％ in this study.Single-factor analysis and logistic regression analysis showed that the risk factors for post-MPCNL septic shock were female and the history of diabetes (both P＜0.05).Conclusions Septic shock is a serious complication after MPCNL.Intensive perioperative prevention measures can reduce the incidence of septic shock.Early diagnosis and proper treatment are the keys to successful treatment of septic shock.

Objective To discuss the clinical effect of urinary kallikrein in the treatment of progressive cerebral infarction and its influence on hs -CRP.Methods 92 patients with progressive cerebral infarction were ran-domly divided into the observation group(n =46)and the control group(n =46)according to the digital table.The control group was treated with conventional therapy,the observation group was treated with urinary kallikrein based on the control group.The clinical effects and the influence on hs -CRP were compared between the two groups.Results The explicit efficiency and the effective rate of the observation group were 71.7% and 89.1%,which were significant-ly higher than 43.5% and 69.6% in the control group(χ2 =7.522 0,5.372 7,P <0.05 or P <0.01).After treat-ment,the hs -CRP levels in the two groups were (11.79 ±3.92)mmol/L and (10.04 ±3.90)mmol/L,which were significantly lower than (13.48 ±3.89)mmol/L and (13.54 ±3.93)mmol/L before the treatment(t =4.287 4, 2.075 5,P <0.05 or P <0.01),and hs -CRP of the observation group was significantly lower than the control group (t =2.146 5,P <0.05).After treatment,NIHSS scores in the two groups were (9.91 ±4.35)points and (6.82 ± 4.32)points,which were significantly lower than (15.39 ±4.34)points and (15.43 ±4.37)points before treatment (t =6.048 6,9.503 2,all P <0.01 ),and NIHSS score of the observation group was significantly better than the control group(t =3.418 5,P <0.01 ).After treatment,the Barthel in the two groups were (53.87 ±18.12)and (68.21 ±18.14),which were significantly higher than (34.35 ±18.08)and (34.42 ±18.11 )before treatment (t =5.172 1,8.943 4,all P <0.01),and Barthel of the observation group was significantly better than the control group(t =3.793 3,P <0.01).There was no obvious adverse reactions and side effects in the treatment.Conclusion Urinary kallikrein can effectively improve the local blood flow perfusion,restore nerve function damage and improve the living ability of the patients in the treatment of progressive cerebral infarction,it has curative effect,and it's safe and reliable,which is worthy of promotion.

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.

Objective To evaluate the diagnostic level of infantile vitamin B_1 deficiency encephalopathy.Methods Clinical featuresand CT images in 45 cases of infantile vitamin B_1 deficiency encephalopathy proved by clinical treatment and follow-up were analyzedretrospectively.Results CT images depicted bilateral symmetrical low-density regions in the lentiform nucleus and the head of caudatenucleus in all 45 cases.The regions were reniform,upsiloid,butterfly or oval.Bilateral symmetrical low-densities of frontal,temporal or parietal lobes were found in some cases.Other CT findings included extensions of longitudinal fissures,lateral fissures and cerebral grooves.Experimental treatments of vitamin B_1 made remarkable clinical improvements.Conclusion CT scanning is extremely useful in thediagnosis of infantile vitamin B_1 deficiency encephalopathy.