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 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.

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 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.

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.

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.

Objective To investigate the safety and efficacy of pegylated interferon (PEG-IFN) and ribavirin for chronic hepatitis C following renal transplantation.Method Nine adult renal transplant recipients of ＞ 12-month duration,infected with hepatitis C virus (HCV),and with stable renal graft function were recruited.All patients were administered with PEG-IFN-α 2b 50 μg/week,plus ribovirin 400-600 mg/day.HCV viral load was reexamined monthly.Consolidation therapy lasted for 3-9 months after initial remission of HCV-RNA.Viral response,adverse effects and changes in hemogram,alanine aminotransferase and andserum creatinine were also monitored.Result The duration of treatment for 9 patients was 4-20 months.Sustained virologic response (SVR) occurred in 6 patients with no relapse during 6-month follow up period after the ceasation of the treatment.Two patients,with rapid virologic response,had a virologic relapse after completing their 3-month consolidation therapy.One patient maintained no obvious virologic response during 8 months of treatment.Renal function was kept in normal range in all patients and no one experienced a rejection episode during or after PEG-IFN-α 2b therapy.The major adverse reactions included influenza-like syndrome (fever,muscle soreness,anorexia),transient bone marrow suppression and anemia.All of the adverse reactions were transient and tolerable,and no discontinuation of PEG-IFN-a 2b therapy was required in all these patients.Conclusion For renal transplant recipients with stable renal graft function,treatment with PEG-IFN-α 2b and ribavirin has high efficacy in the treatment of HCV and is not associated with high risk of acute rejection of renal allografts.

Multiple myeloma is common in the older population and is treated mainly with chemotherapy. However, chemotherapy-related side effects imitate the clinical manifestations of Sheehan's syndrome, which leads to misdiagnosis and missed diagnosis, particularly for older patients without a clear history of postpartum hemorrhage. Therefore, when older women with malignant myelomas show refractory hyponatremia and gastrointestinal disorders while under chemotherapy, a diagnosis of Sheehan's syndrome should be considered. The early detection of the disorder will guarantee timely individualized treatment.

[Objective]To explore the possible effects of the apolipoprotein A5(APOA5)gene rs2075291 and rs3135507 poly-morphisms on plasma lipid levels and the severity of coronary stenosis in patients with coronary heart disease(CHD)in Chinese Han people.[Methods]Polymerase chain reaction-restriction fragment length polymorphism method(PCR-RFLP)was used to identify the genotypes of the rs2075291 or rs3135507 polymorphism for the 324 patients with CHD and the 152 CHD-free controls,and the lipid levels between the genotypes were compared. The severity of coronary stenosis was assessed by the Gensini scoring system ,and the associations of the rs2075291 and rs3135507 polymorphisms as well as other factors with the Gensini scores were analyzed by mul-tivariate linear regression.[Results]The CHD patients had higher prevalence of hypertension ,and higher levels of triglycerides (TG),total cholesterol(TC),apolipoprotein B100(APOB100),lipoprotein(a)[Lp(a)],TG/high-density lipoprotein cholesterol (HDL-C),TC/HDL-C,low-density lipoprotein cholesterol(LDL-C)/HDL-C and APOB100/apolipoprotein AI(APOAI),and low-er levels of HDL-C and APOAI than the controls(P < 0.05 for all). The rs2075291 or rs3135507 allele and genotype frequencies were similar between the CHD group and the control group. The subjects with the rs2075291 GT genotype had higher levels of TG and TG/HDL-C,and lower levels of HDL-C than the subjects with the GG genotype in controls(P < 0.05 for all). In CHD patients, those with the rs2075291 GT genotype had higher levels of TG/HDL-C and TC/HDL-C than the patients with the GG genotype(P<0.05 for both). Regarding the rs3135507 polymorphism,the A allele carriers had lower level of APOB100 than the patients with the GG genotype(P<0.05). No significant association between the rs2075291 or rs3135507 polymorphism and the Gensini scores were detected by multivariate linear regression(P > 0.05).[Conclusion]The APOA5 rs2075291 polymorphism had significant effects on plasma lipid levels,but no effects on the occurrence and development of CHD. Further multicenter case-control studies with large samples are needed to validate these findings.