Patient one was a 19-year-old woman of periodic fever with urticaria during the first week of life.And there were typicalfacies,oligoarthritis and central nervous system involvement.She also exhibited a persistent elevation of acute phase reactants.The diagnosis of chronic infantile neurological cutaneous and articular syndrome was made.Short-term dosing of tumor necrosis factor-α receptor antagonist was administrated and was substituted by glucocorticoid and methotrexate.Another two males had an earlyonset of increased acute phase reactants during inflammation attacks.One of them had recurrent fever with urticaria-like rash,arthralgia and headache.Muckle-Wells syndrome was diagnosed on basis of NLRP3 gene mutation (c.92A ＞ T).And another had recurrent urticaria-like rash with conjunctivitis,oligoarthritis,hepatosplenomegaly and increased serum IgD.The clinical diagnosis was mevalonate-kinase deficiency.Autoinflammatory diseases should be suspected by physicians and diagnosed with a combination of phenotype and genotype.Biological agents,especially interleukin-1 antagonist,have broad prospects in the therapy of autoinflammatory diseases.

In cardiomyocytes,sodium-calcium exchanger(NCX) is regarded to play an important role in the regulation of intracellular Ca~(2+) concentration.During the cardiac ischemia/reperfusion or cardenolide intoxication,the inflow Ca~(2+) through NCX reverse mode induce calcium overload and arrhythmia.Recently,the benzyloxyphenyl derivatives have been developed as selective NCX inhibitors,which may have therapeutic potential as a new remedy for arrhythmias.

Objective To investigate the relationship between HLA-DRB1 alleles and vascular anomalies in infants of Han nationality in Guangxi Zhuang Autonomous Region.Methods This study included 145 infants with vascular anomalies (99 cases of hemangioma (hemangioma group) and 46 cases of vascular malformation (vascular malformation group)) and 105 healthy infants (control group) of Han nationality residing in Guangxi Zhuang Autonomous Region.The genotypes of HLA-DRB1 alleles were determined by using PCR-sequence specific primers (PCR-SSP).Chi-square test was performed to analyze the difference in the frequency of HLA-DRB1 alleles between these groups by using the SPSS 16.0 software.Results There were significant differences in the frequency of HLA-DRB1*0901,*1401 and *16 alleles among the hemangioma group,vascular malformation group and control group (x2 =13.05,12.79,10.36,respectively,all P ＜ 0.01).Paired comparison revealed significant differences in the frequency of HLA-DRB1*0901 allele between the hemangioma group and vascular malformation group (RR =4.84,P ＜ 0.01) as well as between the hemangioma group and control group (RR =3.21,P ＜ 0.01),and in the frequency of HLA-DRB1*16 allele between the hemangioma group and control group (RR =2.25,P ＜ 0.01) as well as between the vascular malformation group and control group (RR =2.60,P ＜ 0.01).The frequency of HLA-DR*1401 allele was significantly lower in the hemangioma group than in the control group (RR =0.30,P ＜ 0.01).Conclusions HLA-DRB1*0901 and *16 may be the predisposing genes for hemangioma and vascular anomalies respectively,while HLA-DRB1*1401 appears to be protective against hemangioma,in infants of Han nationality in Guangxi Zhuang Autonomous Region.

Objective To explore the correlation between BCL2 binding component 3 (BBC3) expression and postoperative survival time of lung squamous cell carcinoma (LUSC),and investigate its molecular mechanism.Methods The expression of BBC3 in 39 patients was detected by using qRT-PCR assay.Meanwhile,clinical data of all patients were collected by follow-up visit.Then,the survival analysis was performed by using Kaplan-Meier and log rank tests.Moreover,multiple factors analysis was performed using COX proportional hazard model.At last,BBC3 was over-expressed in NCI-H226 cell lines,then detected the effects of BBC3 expression on cell proliferation and apoptosis by using MTT assay and flow cytometry.Results BBC3 expression were significantly correlated with the tumor metastasis (r=0.556,P=0.023),tumor size (r=0.532,P =0.042),T staging (r =0.551,P=0.021) and TNM staging (r=0.524,P=0.047).Meanwhile,the results of Kaplan-Meier and log rank tests found that BBC3 expression was significantly correlated with survival time of patients with LUSC,and the length of survival time in patients with high BBC3 expression was longer than that in patients with low BBC3 expression (x2 =7.542,P=0.006).The COX proportional hazard model indicated that tumor metastasis,T staging,TNM staging and BBC3 expression were independent factors which significantly affected survival time.Moreover,the proportion of apoptotic cells in the recombinant plasmid BBCs group was higher than that in the empty plasmid group and control group (P＜0.05).Conclusion BBC3 expression could suppress the proliferation of tumor cells and promote apoptosis,and are significantly correlated with survival time of patients,so which may be assistant biomarkers for prognosis of LUSC.

Objective To study the protective effects of total flavones of Herba Epimedii(TFE)on focal cerebral ischemia of rats.Methods Rat model of middle cerebral artery occlusion was established.With Jinnaduo as a positive control drug,the effect of TFE on the neurological behavior of cerebral ischemia rat,the cerebral water volume,the cerebral infarction area,the cerebral biochemistry and the pathologic change of brain were evaluated.Results TFE improved rats neurological behavior,decreased the cerebral water volume,reduced cerebral infarction area,increased ATPase and SOD activity,decreased MDA content,and also improved the pathological changes of ischemic brain.Conclusion TFE have the protective effect on cerebral ischemia in rats,its mechanism may be concerned about improving energy metabolism and anti-oxidation.

Objective To investigate the clinical significance in monitoring the dynamic oxygenated parameters in full-term neonates with acute respiratory distress syndrome (ARDS) and its relationship with the prognosis. Methods Forty-one full-term neonates with ARDS from 3 hospitals were divided into two groups according to the clinical outcomes: the death group (n=17) and the survival group (n=24). The parameters of breathing machine and arterial blood gas analysis in these two groups at 2 h, 12 h, 24 h and 36 h after mechanical ventilation were analyzed retrospectively. PaO_2/FiO_2, A-aDO_2, PaO_2/P_AO_2 and RI were calculated and compared between the two groups and within each group among the values of different period. Results Under the circumstance that parameters of breathing machine in the death group were obviously or gradually higher than those in the survival group, PaO_2 in the death group [(10.38?1.45)kPa] was lower than that in the survival group [(11.42?0.98)kPa] only at 36 h (P0.05). In the death group, PaO_2/FiO_2 at 24 h and 36 h [(15.86?4.92)kPa and (15.99?5.62)kPa] was lower than that in the survival group [(21.18?6.48)kPa and (27.12?8.33)kPa](P0.05) . Conclusions PaO2is not a sensitive indicator on the prognosisof NRDSinits early stage . PaO2/Fi O2, A-aDO2, PaO2/PAO2and RI are better than PaO2to reflectthe degree of lung injury ,oxygen exchange rate and therapeutic efficacy . A-aDO2and PaO2/PAO2arevery sensitive in assessing the therapeutic effect and the dynamic monitoring may be helpful injudgingthe prognosis .

Objective To investigate the distribution characteristics and clinical features of familial aggregation hemangioma to improve the level of the diagnosis and treatment.Methods Total 1202 cases of vascular disease were treated in this department from June 2006 to June 2011.The clinical data and family distribution characteristics in 36 cases of familial aggregation hemangioma were analyzed and their effects of laser treatment were evaluated.Results 36 cases were familial aggregation hemangioma,whose incidence was 2.99 ％ in 1202 cases of vascular disease cutis; and the ratio of male to female was 1 ∶ 1.There were 9 cases of parents suffering from hemangioma.But the incidenceof the next generation suffering from vascular disease was 28.5 ％.Among these 36 cases of familial aggregation hemangioma,33 cases underwent the long pulse 1064 nm Nd ∶ YAG laser and optimized pulse light combination therapy.The effective rate was 100 ％.Conclusions There may be a genetic predisposition in hemangioma.The application of long pulse 1064 nm Nd ∶ YAG laser and optimized pulsed light treatment to hemangioma cutis can obtain satisfactory results.The intervention should be taken in early stage.

Objective To investigate the protective effect of propotol against hepatic ischemiareperfusion injury in rats on mitochondrial permeability transition pore (MPTP) and the mechanism of GSK-3β.Methods Thirty SD rats were randomly assigned into five groups (n =6):sham operation group (S group),ischemia reperfusion group (I/R group),CsA pretreatment group (C group),propofol pretreatment group (P group),and propofol plus atractyloside pretreatment group (A + P group).Nauta liver ischemia-reperfusion rat model was used.Liver lobes were subjected to warm ischemia for 60min and then reperfusion for 120 min.In P group,propofol [12 mg/(kg · h)] was administered in the femoral vein for 30 min before ischemia until the end of reperfusion.In C group,CsA (2 mg/kg) was administered in the femoral vein for 20min before ischemia.In A + P group,20 μmol/kg of atractyloside was given through the femoral vein 10min before the injection of propofol.Rats were sacrificed at the end of reperfusion,and venous blood and hepatic tissue specimens from the same part of ischemia were obtained from different groups.Results Compared with S group,the AST and ALT levels were increased significantly,mitochondrial swelling were increased and mitochondrial membrane potential were decreased significantly in I/R group and A + P group.Casepase-3 were increased significantly and p-GSK3β Ser9 were decreased significantly in I/R group and A + P group.Compared with I/R group,the content of AST and ALT were decreased significantly,mitochondrial swelling were decreased and mitochondrial membrane potential were increased significantly,casepase-3 release were decreased significantly and p-GSK3β Ser9 were increased significantly in P group and C group.GSK-3β in each group displayed no significant difference.Conclusions Propofol can significantly reduce hepatic ischemia-reperfusion injury.The protective effect of propofol may be achieved via the inhibition of GSK-3β activation,increased p-GSK-3β Ser9 level,suppressing MPTP opening and decreasing hepatocytes apoptosis.

Objective:To investigate the role of Smad7 in the Hepatocellular carcinoma (HCC) migration and proliferation and its clinical significance.Methods:Through transfecting pcDNA3.1 (+)-Smad7 or siRNA Smad7 to overexpress or knockdown the Smad7 expression in HCC cell lines HepG2 and Huh7.The MTT assays were used to test the role of Smad7 in proliferation of HCC cells.Transwell and wound-healing assays were used to detect the effect of Smad7 on migratory ability in both tow cell lines.RT-PCR was used to test the Smad7 expression in 9 clinical HCC patients' specimens.Results:As the results,overexpression of Smad7 significantly inhibited the proliferation of cells compared with the control group,while knockdown Smad7 promoted the proliferation.At the same time,overexpression of Smad7 could inhibit the migratory ability of HCC cells compared with the control group,while knockdown smad7 could accelerate this ability.The expression of Smad7 in cancer tissue was significantly lower compared with normal mucosa tissue adjacent to cancer.Conclusions:Smad7 is a kind of anti-progressive molecule in HCC.

Objective To investigate the protective effect of propofol pretreatment against hepatic ischemia-reperfusion injury and oxidative stress in rats and the mechanism of the role of GSK-3 β.Methods Sixty SD rats were randomly divided into four groups:sham operation group (S group),ischemia-reperfusion group (I-R group),propofol pretreatment group (P group),TDZD-8 pretreatment group (T group).The hepatic ischemia-reperfusion rat models were established by the method of Nauta.Rats were subjected to 30-min,60-min and 90-min 70％ warm ischemia of liver followed by reperfusion for 120 min,respectively.Propofol (12 mg/kg · h) was injected via femoral vein 30 min before ischemia till the end of reperfusion in P group and TDZD-8 (1 mg/kg) were injected via femoral vein 20 min before ischemia in T group.The animals were killed at 120 min after reperfusion.Blood samples and the liver tissue were obtained.The levels of alanine aminotransferase (ALT),aspartate aminotransferase (AST),lactate dehydrogenase (LDH),malondialdehyde (MDA) and superoxide dismutase (SOD) were analyzed.Liver morphological changes were observed using optical microscopy.p-GSK-3β Ser9 and total GSK-3 β expression was determined by Western blot.Results Compared with S group,AST,ALT,LDH and MDA level was increased,SOD level was reduced,and p-GSK-3 β Ser9 expression was significantly reduced in I-R group.Compared with I-R group,the content of AST,ALT,LDH and MDA was reduced significantly,SOD increased significantly,and the content of p-GSK-3β Ser9 increased significantly in P group and T group.There were no significant differences between P group and T group.The hematoxylin-eosin staining of hepatic tissues revealed in I-R group had severe structural damage and periportal inflammatory cells infiltrated,hepatocyte necrosis and sinusoidal congestion.In P group and T group,liver tissues had normal structure,less cell death,edema and inflammatory cell infiltration.Conclusions Propofol can significantly reduce hepatic ischemia reperfusion injury by reducing oxidative stress and lipid hydroperoxides.This protective effect of Propofol may be associated with the inhibition of GSK-3 β by GSK-3 β Ser9 phosphorylation.