Objective To evaluate the relationship between the heart diastolic function and pulse wave velocity in patients with diabetes mellitus.Methods Fifty-five patients with diabetes mellitus underwent echocardiogram exam,PWV,and BNP determination.Patients were divided into two groups according to the results:the group with normal heart diastolic function(n =33)and the group with abnormal heart diastolic function( n =22).Another 30 healthy volunteers served as control group.The values of PWV were compared.between the three groups.The relationship between E/E' and PWV,BNP and PWV were evaluated with correlation analysis.Results The PWV value of abnormal heart diastolic function group was significantly higher than that of other two groups.PWV was positively correlated with E/E'and BNP ( r =0.58,P ＜ 0.05 ; r =0.63,P ＜ 0.05).Conclusion PWV is associated with the heart diastolic function.PWV can serve as an important factor to predict abnormal heart diastolic function in patients with diabetes mellitus.

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 study the prevalence, clinical characteristics and risk factors of HIV-related lipodystrophy syndrome (HIV-LD) in our cohort of HIV-1 infected Chinese adults. Methods In a cross-sectional study, 55 HIV-infected patients were recruited from the HIV clinic of Peking Union Medical College Hospital; most of them were undergoing the first-class highly active antiretroviral therapy (HAART) of today in China. Lipoatrophy or lipohypertrophy was defined if there was concordance between the report of fat change and clinical examination of the participants. Whole body dual-energy X-ray absorptiometry (DEXA) scanning was performed. Results Prevalence of clinical body fat redistribution in the present study was 47.3%. Comparing with non-LD patients, HIV-LD patients had elder age and longer exposure to HAART(P<0.05). HAART exposure and stavudine(d4T) usage were two independent risk factors for HIV-LD. Conclusions HIV-related fat redistribution does exist in Chinese HIV population. Peripheral lipoatrophy occurs commonly in HIV-infected adults but is not associated with increased trunk fat. HAART exposure and especially d4T usage are independent risk factors for HIV-LD.

Objective To investigate the effects of angiotensin Ⅱ (Ang Ⅱ) or high glucose on the toll-like receptor 4 (TLR4) expression,inflammatory cytokines and fibrotic factors in human tubular epithelial cells (HK-2),revealing the innate immune-related pathogenesis of diabetic nephropathy (DN) which may have clinical implications.Methods Three TLR4 siRNA sequences were designed and synthetized.After transfection,the most effective siRNA was selected to use for further expriments.The experiment consisted of 2 parts.Part 1:Cells were divided into three groups:normal-glucose group (NG,5.5mmol/L glucose),mannose group (M,5.5 mmol/L glucose + 19.5 mmol/L mannose),High-glucose group (HG,25 mmol/L glucose),preliminary validated the effects of high glucose and high osmotic pressure.Part 2:Cells were divided into seven groups:NG group,HG group,Ang Ⅱ group,Ang Ⅱ + negative group,HG+ negative group,Ang Ⅱ + siRNA group and HG+ siRNA group.Real time PCR was used to analyze the mRNA expression of TLR4,myeloid differentiation factor 88 (MyD88),heat shock protein 47 (HSP47).Western blotting was used to observe the protein expression of TLR4,MyD88,HSP47,NF-κB,type Ⅳ collagen (ColⅣ).ELISA was used to detect the expression of monocyte chemotactic protein-1 (MCP-1) and interleukin-6 (IL-6).Results Compared with NG group,TLR4,MyD88,HSP47 mRNA and TLR4,MyD88,NF-κB,ColⅣ,HSP47 protein were highly expressed under high glucose or Ang Ⅱconditions (P ＜ 0.01),and the expression levels of MCP-1 and IL-6 also increased significantly (P ＜ 0.01).Compared with HG or Ang Ⅱ group,the above indicators were obviously inhibited in the TLR4 siRNA groups (P＜0.01).Comparison between blank vector transfected groups and HG group as well as Ang Ⅱ group indicated no statistic significance (P ＞ 0.05).Conclusions Both Ang Ⅱ and high glucose stimulate TLR4 expression,which result in the up-regulation of inflammatory and fibrotic factors in HK-2.Specific target of TLR4 gene silencing can block the TLR4 pathway that is activated by high glucose and Ang Ⅱ,and thus reduce the inflammatory and fibtogenic factors' release.TLR4 signal is the common innate immune response pathway which induces the release of inflammatory and fibrotic factors in HK-2 under high glucose or high angiotension conditions.

Objective To investigate the effect of glucagon-like peptide-1 (GLP-1) receptor agonist liraglutide on hypoxia/reoxygenation (H/R)-induced cardiomyocytes death under high glucose condition and the potential mechanisms.Methods H9C2 cardiomyocytes were divided into 4 groups:normal glucose (N,5 mmol/L),high glucose (G,20 mmol/L),high glucose in combination with liraglutide (L,100 nmol/L),high glucose in combination with liraglutide and wortmannin (W,25 nmol/L).The apoptosis of H9C2 was detected by TUNEL assay.Nitric oxide synthetase(eNOS),nitric oxide (NO) and reactive oxygen(ROS) in supernatants were measured by enzymatic analysis,p-PI3K,PI3K,p-Akt,Akt,Bcl-2,caspase-3 were examined by western blotting.Results Compared with cells in N group,the apoptosis of H9C2 cells induced by H/R was markedly increased [(15.79 ± 3.92) ％ vs (9.74 ± 1.14) ％,P =0.028] in G group.The same was true for ROS [(489.63 ±21.01) U/ml vs (338.50 ±43.60) U/ml,P ＜0.001] and caspase-3 levels (1.87 ±0.03 vs 1.15 ±0.04,P ＜0.001),but not for Bcl-2 protein expression (1.79 ± 0.06 vs 1.89 ±0.03,P =0.047).Pretreatment of cells with liraglutide (100 nmol/L) prevented the cell death induced by high glucose and H/R together with decrease of ROS and caspase-3 levels and increase of Bcl-1 expression.Moreover,treatment of cells with liraglutide also significantly increased phosphorylation of PI3K and Akt (p-PI3K/PI3K:0.87 ± 0.07 vs 0.59 ± 0.09,P =0.002;p-Akt/Akt:0.34 ± 0.01 vs 0.08 ± 0.01,P＜0.001),eNOS[(41.29 ±0.56) μmpl/L vs (37.20 ±0.52)μxmpl/L,P ＜0.001]and NO [(31.24 ±0.40) μmpl/L vs (26.66 ±0.53) μmpl/L,P ＜0.001] levels.Furthermore,addition of PI3K/Akt inhibitor wortmanin markedly inhibited the expression of p-PI3K/PI3K,p-Akt/Akt,reversed the changes of eNOS,NO,caspase-3 and Bcl-2 by liraglutide,and abolished the protective effect of liraglutide on cell apoptosis.Conclusions GLP-1 receptor agonist liraglutide treatment could alleviate cardiomyoeytes apoptosis induced by high glucose and H/R through the activation of PI3K-Akt-eNOS-NO signaling pathway and inhibition of oxidative stress.

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.

ObjectiveTo investigate the association of complement C3 with clinical and serological features of patients with systemic lupus erythematosus.MethodsData was collected by the same methods in the past ten years in fifteen hospitals in Jiangsu Province and then data weres summarized for retrospective analysis.Clinical and laboratory data were selected and then analyzed by Chi-square test,Wilcoxon rank sum test and Logistic regression.ResultsOne thousand four hundred and five patients were investigated.One thousand and forty two had low serum complement C3 level.In this case control study,hospitalization age,disease course,admission times,pleurisy,gastrointestinal involvement,general lymphadenopathy/hepatosplenomegaly,white blood cell count, haemoglobin level,platelet count, serum C-reactive protein level,serum albumin level,serum creatinine level,Urine protein quantification,anti-nuclear antibodies (ANA),anti-dsDNAantibodies, anti-SmantibodiesandSLEDAIscore were possible factors associatedwith complement C3 reduction(P＜0.05).Logistic regression analysis showed that CRP (OR=0.396,0.254-0.617,P=0.000),ANA (OR=2.907,1.267-6.670,P=0.012),urine protein level(OR=1.702,1.043-2.779,P=0.033) and SLEDAI score (OR-0.930, 0.886-0.975,P-0.003) were correlated with complement C3 reduction.Conclusion Complement C3 level is valuable for lupus flare assessment.The complement C3 reduction is a risk factor for renal impairment.

Objective To investigate the initial manifestation and disease onset feature of systemic lupus erythematosus(SLE) in the past ten years in fifteen hospitals in Jiangsu Province.Methods Data was collected by the same Methodsin all the participated hospitals and then it was summarized for retrospective analysis.Two groups were compared by chi-square test.Results ① One thousand nine hundred and fifty eight patients were investigated and the male-to-female ratio was 1∶15.0.② One thousand seven hundred and ninty eight patients had clear initial manifestations.The most common initial manifestations were skin and mucosal lesions(769 cases,42.8％ ) and arthritis (697 cases,38.8％ ).The main skin lesion was malar rash (706 cases).Arthritis was found to be more common in female than male.③ All hospitalized patients at their first admission showed multiple organ/system involvement:the most common involvement was skin and mucous membrane (82.3％),hematologic damage (74.0％),in which at least one series of blood cells were involved,arthritis (1156 cases,56.5％ ) much more than myositis (51 cases),proteinuria 1046 cases and hematuria in 385 cases.Renal biopsy pathology showed type Ⅳ glomerulonephritis.Conclusion ① SLE patients are mainly female and the male to female ratio is 1∶15.0.② The most common initial manifestations are skin and mucosal lesions.③ The most commonly involved organ/system are skin and mucous membrane,blood,joint and kidney.The most common pathological changes shown in renal biopsy is type Ⅳ glomerulonephritis.

Objective To explore the relationship between the impairment of hematological system and disease activity,immunological parameters,and the prognosis of systemic lupus erythematosus (SLE).Methods The clinical and laboratory data of in-patients with SLE in Jiangsu Province were investigated and all patients were hospitalized between 1999-2009.The impairment of hematological system was assessed and the relationship between hematological system damage and disease activity,immunological parameters,mortality rate of patients with SLE were analyzed.Statistic method used was X2 test.Results One thousand nine hundred and fifty eight cases of SLE were included in the study,in which,1836 were female and 122 were male.One thousand five hundred and forty nine (79.1%) patients complicated with hematological system damage,62.3% were anemia,45.5% with leucopenia and 29.4% with thrombocytopenia.There were significant differences in hematological system damage rate among patients with mild activity group,moderate activity group,severe activity group and almost no activity group,compared respectively with almost no activity group.The P values were P=0.01 and P＜0.01 respectively.The incidence of hematological system damage in elevated ESR,low complement C3 level,anti-dsDNA antibody group was higher than that in patients who had normal ESR,complement C3 level and anti-dsDNA group.(P＜0.01).During follow-up,166 patients died,of which the mortality rate(91.6%) in patients had hematological system damage,was obviously higher than those without hematological damage(8.4%)(P＜0.01 ).Among the 166 deceased patients,38.6% died of severe infection,22.9% died ofrenal failure,15.1% died ofnervous system damage,10.2% died of cadiovascular damage and 13.3% died from other causes.Conclusion Hematological system is one of the most commonly involved system in patients with SLE,of which anemia is the most common,and the incidence of leukopenia follows.The impairment of hematological system is closely related to lupus activity.Patients with abnormal immune parameters tend to have secondary hematological system damage.Severe infection is the main cause of death in patients with lupus,followed by nervous system damage and kidney damage.The mortality rate in patients with lupus that complicated hematological system damage is higher than patients who have no hematological system damage.