Objective To discuss the correlation of Wiskott-Aldrich syndrome (WAS) with autoimmune disease of the central nervous system and its possible pathogenesis by reporting one case of the disease and reviewing related literature.Methods One case of WAS complicated with demyelinating disease of the central nervous system was reported.The patient' s clinical symptoms,laboratory examinations (such as blood tests,immune function tests,etc) and imaging features were analyzed.The patient's blood DNA was extracted and performed gene testing.And related literature was reviewed.Results The patient showed typical clinical symptoms of WAS,including eczema,thrombocytopenia and immune deficiency,complicated with demyelinating disease of the central nervous system.The DNA testing showed C400G ＞ C p.(ALa134Pro) mutation,which is a missense mutation.The 134th amino acid in protein was changed from alanine to proline.The patient also showed the symptoms of demyelinating disease of the central nervous system,which drew our attention.This was the first report on WAS complicated with demyelinating disease of the central nervous system,which was perhaps caused by a gene mutation.Conclusions WAS complicated with demyelinating disease of the central nervous system is possibly resulted from the gene mutation,which leads to the expression disorder of WAS protein.And then non-red hematopoietic cells lead to signal transduction and cytoskeleton recombination disorders in response to environment stimulus,which produces lymphocytes immigration,signal transduction and immune synaps formation disorders.

Objective: To evaluate the intervention effect of clinical pharmacists in hypertension chronic disease management. Methods:All the patients with hypertensive chronic diseases from Ziyang community, Xingan Street, Beilun district were involved in the study. Combined with community doctors, clinical pharmacists provided pharmaceutical care for the patients, such as regular face-to-face medication guide, telephone communication, home follow-up, special lectures on health and so on. The cognitive level, blood pressure control level and medication compliance were statistically analyzed and compared before and after the pharmacy intervention. Results:After the intervention of clinical pharmacists, the level of hypertension cognition and the level of antihypertensive drug under-standingof the patients was improved significantly (P<0. 05 or 0. 01), the level of blood pressure control and medication compliance of the patients were improved significantly (P<0. 01), and unscheduled outpatient rate, emergency rate, hospitalization rate and fre-quency were decreased (P<0. 05 or 0. 01). Conclusion: Pharmacy intervention carried out by clinical pharmacists for the patients with hypertension chronic diseases can provide reasonable medication security and improve the quality of life, and the pharmacy inter-vention mode for the hypertension chronic disease management is worthy of promotion.

Objective To clarify the relationship between tumor necrosis factor alpha (TNF-α) and leptin in nonalcoholic fatty liver disease.Methods The real-time quantitative PCR (q-PCR) and enzymelinked immunosorbent adsorption experiment(ELISA) were used to detect the expression and correlation of TNFα and leptin in blood cells and serum from the normal group, non-alcoholic simple fatty liver(NAFL) group, nonalcoholic steatohepatitis (NASH) group and cirrhosis group.Results At the level of mRNA, the transcription of TNF-α in cirrhosis group was 14.03 times, 12.07 times and 11.05 times of the normal group, NAFL group and NASH group,and the difference was significant(P＜0.05).Leptin transcription of cirrhosis group was 1.95 times,0.79 times and 1.45 times of normal group, NAFL group and of NASH group(P＞0.05).And in the cirrhosis group, the expression of TNF-α was 7.52 times higher than Leptin (P＜ 0.01).In expression level of protein,TNF-α and leptin in cirrhosis group was 1.98 times and 2.39 times higher than the normal group, 1.24 times and 1.30 times higher than the NAFL group, 1.27 times and 1.37 times higher than NASH, and the difference was significant(P＜0.05).Moreover the expression of TNF-α was significantly higher than that of Leptinin groups above(P＜0.01).Conclusion TNF-α and Leptin are less expression in lymphocytes, but more expression in serum.And TNF-α and Leptin affect the evolution of NAFLD, and present a positive correlation, which lead to the occurrence of NAFLD.Comparing the two methods, detection of serum is more sensitive and more suitable for clinical study than lymphocyte.

Objective To investigate the relationship between level of serum tumor necrosis factorα (TNF-α) and interleukin-12 (IL-12) and the antitumor effects of cantharidin sodium vitamin B6.Methods Forty advanced non-small cell lung cancer patients aged 30 to 80 were divided into experimental groups [paclitaxel + cisplatin (TP program) and sodium cantharidate vitamin B6] and control group (only TP program).Peripheral blood was drawn in the day of admission and the seventh day,the level of serum TNF-α and IL-12 were detected by method of enzyme-linked immunosorbent assay (ELISA),the results were analyzed.The World Health Organization (WHO) anticancer drugs in acute and subacute toxicity grading criteria were used to grade the chemotherapy side effects.Results The level of serum TNF-α and IL-12 were no significant difference on admission.After chemotherapy,serum TNF-α and IL-12 of experimental group was significantly higher than control group (P ＜ 0.000 and P ＜ 0.037,respectively).The serum TNF-α and IL-12 of experimental group had upward trend after chemotherapy.After 3 months of treatment,the remission rate was 85.7％ in experimental group,significantly higher than 57.8％ in the control group (P ＜ 0.05).White blood cells,and platelets decrease in the experimental group were significantly reduced than the control group (P ＜ 0.001 and P ＜ 0.009,respectively),and there are no significant difference in nausea and vomiting reaction between experimental and control groups.Conclusions The antitumor effects of cantharidin sodium vitamin B6 might be related to the high level of serum TNF-α and IL-12,cantharidin sodium vitamin B6 in combination with chemotherapy in patients can reduce white blood cell and platelet decline after chemotherapy.

ObjectiveToinvestigatethecorrelationbetween-2578C>Apolymorphismofvascular endothelium grow th factor (VEGF) gene and carotid atherosclerosis in Chinese Han population in Shandong, China. Methods A total of 384 subjects aged 45-85 in Chinese Han population in Shandong, China w ere enroled. They were divided into either an increased intima-media thickness (IMT) group ( n=248) or a control group (n=136) according to the vascular ultrasound results. The baseline clinical data, such as the demographic data, vascular risk factors, and blood biochemical indicators in both groups were colected. Polymerase chain reaction w as used to detect the VEGF gene -2578C>A polymorphism genotype and alele. Multivariate logistic regression analysis was used to identify the independent risk factors for increased carotid IMT. Results The proportions of hypertension ( 70.6%vs.59.6%;χ2 =4.793, P=0.032), diabetes (18.4%vs.29.0%; χ2 =5.281, P=0.027), hyperlipidemia ( 45.2%vs.33.1%; χ2 =7.883, P=0.006), previous previous stroke or transient ischemic attack (29.0%vs.16.9%;χ2 =6.294, P=0.009), smoking (35.9%vs.19.9%;χ2 =10.708, P=0.001), as w el as total cholesterol ( 4.82 ±1.25 mmol/L vs.4.57 ± 0.94 mmol/L; t= -2.072, P= 0.039 ), triglyceride ( median, interquartile range; 1.71[0.84-2.22] mmol/L vs.1.53[1.08-2.59] mmol/L;Z= -2.560 P=0.010), low-density lipoprotein cholesterol (2.86 ±1.01 mmol/L vs.2.64 ±0.85 mmol/L; t= -2.407, P= 0.033 ), and high-density lipoprotein cholesterol (1.58 ±0.72 mmol/L vs.1.43 ±0.46 mmol/L;t= -2.183, P=0.030) in the increased IMT group, and there w ere significant differences compared w ith the control group. There w as significant difference in genotype frequency betw een the 2 groups (χ2 =10.131; P=0.006). There w as significant difference in C alele frequency between the increased IMT group and the control group (78.2% vs. 70.2%;χ2 =6.068, P=0.014). Multivariate logistic regression analysis showed that CC genotype (odds ratio 1.132, 95%confidence interval 1.021-2.141;P=0.029) w as an independent risk factor for increased carotid IMT. In 248 patients w ith increased IMT, 213 had at least 1 plaque, 76 (39.6%) of them w ere 1-2, 107 (43.15%) w ere 3-4, and 30 (12.1%) w ere 5-8 in plaque index. There w ere no significant differences in frequencies of genotypes (χ2 =6.766, P=0.149) and alele (χ2 =0.185, P=0.667) in the different plaque index groups. Conclusions -2578 single nucleotide polymorphism in the VEGF gene promoter is associated w ith carotid atherosclerosis, and C al ele may be its genetic susceptibility factor in Chinese Han population in Shandong, China.

Recurrent spontaneous abortion (RSA) was one of the most difficult infertile diseases which was usually defined as consecutive still birth for more than three times during the first 20 weeks of gestation. Various factors and pathogeneses were thought to play a role in RSA. Recent studies had indicated that the disorders of blood vessel growth and the secondary abnormal blood perfusion may contribute to the occurrence of RSA. However, blood vessel growth was linked with the regulation of angiogenesis related factors. To provide references for the clinical prevention and treatment, the purpose of this paper was to evaluate the association between solubility vascular endothelial growth factor receptor-1(sflt-1), thrombospondin 1(TSP-1) and ovary, endometrial abnormal blood perfusion in cases of RSA.

Objective To assess the value of acoustic radiation force impulse (ARFI) imaging in the pathological damage of Henoch-Schonlein purpura nephritis on children by comparison with renal biopsy.Methods 50 cases of healthy control group as group A; 58 children with HSPN were divided into three groups according to pathological grading:Ⅰ ～ Ⅱ class (group B),Ⅲ class (group C) and Ⅳ ～ Ⅵ class (group D).ARFI was then used to measure the shear wave velocities(SWV) of renal cortex of each group,compared the differences SWV of each group.Results SWV values of children's renal cortex with HSPN were significantly higher (t =5.883,P =0.017) than those in the group A.Pairwise comparisons found that there were statistically significant differences between group D and the other three groups (P ＜0.05).According the ROC curve,the cut-off value of SWV was 2.59 m/s when the maximum area under the curve equal to 0.719,the sensitivity and specificity were 63％ and 67％.Conclusions ARFI technology can quantify the elastic properties of the kidney,which is expected as an important indicator to evaluate the pathological extent of damage of the HSPN.

Objective To investigate whether rat adipose-derived stem cells (rASCs) could resist human xenoantibody-dependent complement-mediated lysis and to explore its possible mechanisms.Method SD rat ASCs were isolated,rASCs at passage 2 to 8 were used for the following studies and rat lymphocytes were harvested as control cells.α-Gal expression was detected by flow cytometry.After incubation of rASCs with 20％ normal human serum (NHS) or heat inactivated normal human serum (HINHS),flow cytometry was used to detect cytotoxicity,IgG or IgM binding,and C3c,C4c and C5b-9 deposition.Result We successfully established the method to isolate and culture rASCs.The morphology of rASCs remained unchanged after passages.rASCs were positive for tell surface markers of CD44 and CD90,while negative for CD45 and MHC-Ⅱ.As compared with rLCs,rASCs significantly resisted human natural antibody and complement-mediated lysis when incubated with 20％ NHS in vitro (20.42％ ± 2.80％ vs 51.84％ ± 6.70％,P ＜ 0.01).Mechanistically,rASCs expressed lower level of α-Gal (13.97 ± 0.33 vs.24.47 ± 3.03,P＜0.05),which was correlated with decreased binding of human xenoreactive IgG and IgM (IgM:9.4 ± 2.0 vs.107.2± 4.8,P＜0.01; IgG:5.73 ± 1.0 vs.27.49 ± 3.9,P＜0.01) and reduced deposition of complements C3c,C4c and C5b-9 (C3c:294.6 ± 38.02 vs.1924 ± 509.4,P＜0.05; C4c:35.23 ± 3.1vs.177.3 ± 37.17,P＜0.05; C5b-9:5.63 ± 1.74 vs.37.05 ± 7.4,P＜0.01).Conclusion These data demonstrated that the resistance of rASCs to human xenoantibody and complement-mediated lysis is associated with low expression of xenoantigen a-Gal and inhibition of MAC (membrane attack complex) formation.

Objective To investigate the clinical pattern,therapeutic principle and influencing factors of interstitial pneumonia in renal allograft recipients.Method The general information,clinical manifestation,treatment and outcomes of 30 recipients with interstitial pneumonia after renal transplantation from Nov.2006 to Dec.2013 were analyzed retrospectively.Result Twenty-nine of 30 patients developed interstitial pneumonia between 2 to 6 months post-transplant.The total course of the pneumonia lasted for 34.9 ± 7.5 days on average.Chest CT scans were used to monitor severity of interstitial pneumonia each week.The mean duration between the onset to the fastigium of pneumonitis was approximately 14.8 ± 1.9 days.The mean duration of the fastigium lasted for 7.3 ±3.6 days,after that the patients usually started to recover.Deteriorated chest CT scan findings and long terms of the fastigium usually indicated poor outcomes.The mean duration of the recovery period was 13.1 ± 3.7 days.After adjusted administration of methylprednisolone,antibiotics,antifungal agents,nutritional support as well as immunosuppressive drugs,23 patients with mild and moderate pneumonia by the chest CT scans were cured and discharged.However,4 of the 7 patients with severe pneumonia by the chest CT scans died.Conclusion The progression of interstitial pneumonia after renal transplantation is characterized by a more consistent regularity.After adjusted administration of methylprednisolone,antibiotics,antifungal agents,nutritional support as well as immunosuppressive drugs,renal allograft recipients with interstitial pneumonia could obtain a good therapeutic effect without over-treatment.

Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease (HHD).Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent.Blood samples were taken from all patients and 100 unrelated human controls.and DNA was extracted from these samples.Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction (PCR) and direct sequencing.Results The diagnosis of all cases was confirmed by typical clinical manifestation,cutaneous pathology and immunofluorescence pathology.Five novel mutations.including a deletion mutation (2025delG),three missence mutations (L269R,C348R,A651D) and a non-sense mutation (Q259X) were identified in these cases.No mutations were detected in any of the 100 controls.Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.