Cornelia de Lange syndrome is a rare congenital disease,which was firstly reported on 1933.It usually causes multiple organs dysplasia.Clinical manifestations include severe growth retardation,cogni-tive impairment,characteristic facial and upper limb defects.With the rapid development of medical science,es-pecially in genetics and molecular biology,much research on the pathogenesis of Cornelia De Lange syndrome has been performed.Herein,we review the progress in this rare disease in recent years.

Objective To investigate the development of the cervical cord in children by using diffusion tensor imaging.Methods Ninety healthy children were undergone with diffusion tensor imaging of the cervical cord by using single-shot spin-echo echo planar image sequence.The values of apparent diffusion coefficients (ADC), fractional anisotropy (FA), average length(Ltract) and volume of tracts(Vtract) were measured in the cervical regions.Results The measurements of each group were as follow:ADC value:0.9747 ±0.2777,0.8493 ±0.2236,0.8210 ±0.1432,0.9198 ± 0.1444,0.9048 ±0.1676;FA value:0.4117 ±0.0391,0.4712 ±0.0199,0.4944 ±0.0439,0.5608 ±0.0443,0.6169 ± 0.0551;Ltract:25.61 ±8.63,24.66 ±7.14,27.03 ±7.23,34.93 ±10.99,37.63 ±10.22;Vtract:3.07 ±1.49,3.00 ± 1.52,3.81 ±1.33,5.41 ±2.35,6.64 ±2.84.FA value, Ltract and Vtract showed significance in different age groups , while ADC value was found no difference ( P<0.001) .Post-Hoc test revealed that FA value was significantly different between age group I and Ⅱ.FA value, Ltractand Vtract presented significantly different between group ⅢandⅣ.FA value difference was also found between group Ⅳand V.FA value, Ltract and Vtract were all positively corelative with age (F=1.758, P=0.145 ) .Conclusion Development of the cervical cord shows periodicity with periodic features .Diffusion Tensor Imaging can be used as a tool to observe and evaluate development of the cervical cord in children .

Superselective angiography and embolization is one of the important methods in the management of acute hemorrhage, providing mini-invasion and high efficacy, etc. The implication of angiography and embolization on bleeding were reviewed and the embolic agents as well as the interventional procedures were commented in this article.

Percutaneous radiofrequency ablation (RFA) has been widely used in the treatment of malignant hepatic tumors and has achieved satisfactory effects.Complications after RFA have been taken seriously and the risk of the development of complications is closely associated with tumor location.It is a great challenge for physicians to perform RFA for hepatic tumors in high-risk locations due to related difficulties and risks.This article reviews the complications after RFA for hepatic tumors in high-risk locations and analyzes related control strategies.

BACKGROUND: A total of 300 SD rats were used for blood sampling. In abdominal aorta approach, the best puncture point was the abdominal aortic bifurcation 1-3 mm towards the heart, with a success rate of 93.6%. In posterior orbital venous plexus approach, the needle was vertically inserted into the inner canthus and rotated toward the eyeground to open venous plexus (success rate 89.9%). In cardiac puncture approach, below the xiphoid process, the needle punctured into the skin with 25°-30° oblique upward, through the diaphragm until 2.5-3.0 cm deep (success rate 83.4%). In tail end approach, surgical scissors cut off 5-10 mm tail top (success rate 94.4%). In jugular vein approach, the needle was horizontally inserted along the fourth rib into the skin until the jugular vein, about 5 mm deep, at 30°-40° with the chest surface (success rate 80.9%). A large blood volume could be obtained by abdominal aorta approach, which leads to less haemolysis and no hurt to organs, no gas embolism or haemostasis caused by inappropriate operation. But each approach has advantages and drawbacks, the selective principle should be based on experimental require.

Objective To evaluate the reliability and validity of Chinese version of Arthritis Self-Efficacy Scale.Methods Arthritis Self-Efficacy Scale was translated and adapted according to Chinese culture,and content validity was evaluated by panel of experts.Then preliminary test was proceeded and revised the scale.90 effective questionnaires were recollected,and 40 patients were tested once again after two weeks randomly.Correlation analysis and factor analysis was conducted.Results The Cronbach's α of Arthritis Self-Efficacy Scale was 0.920 and the Cronbach's α of each subscale was ranged from 0.807 to 0.831.The test-retest reliability was 0.800 to 0.921.The correlations among subscales were ranged from 0.705 to 0.799,the correlations between each subscale and total scale were ranged from 0.875 to 0.921.Component analysis revealed three factors accounting for 56.47％ of the sample variance.Conclusions Chinese version of Arthritis Self-Efficacy Scale is of better reliability and validity,it could be used in the evaluation of self-efficacy for arthritis patients.

Objective To investigate whether the expression frequency and function of peripheral and liver NK cells was correlated with the liver injury in patients with hepatitis B virus related acute-on-chronic liver failure(HBV-ACLF).Methods Peripheral blood samples were obtained from fifteen HBV-ACLF patients and fifteen chronic hepatitis B patients.The frequency of peripheral NK cells (CD3-CD56+) and CD107a expression on surface of peripheral NK cells were detected by multicolor flow cytometry.Expression of IFN-γ by peripheral NK cells was detected by intracellular cytokine staining.Needle biopsy liver tissues were obtained from twenty patients with HBV-ACLF,ten patients with mild CHB,and expression of live NK cells (CD3-CD57+) was analyzed by dual immmunohistochemical staining of CD 3 and CD57.Results There was no significant difference in the frequency of peripheral NK cell and IFN-γ expression by peripheral NK cells between HBV-ACLF and mild CHB patients.However,CD107a expression on surface of peripheral NK cells of HBV-ACLF patients was remarkably higher than that of CHB patients.The frequency of liver CD57+NK cell of HBV-ACLF patients was remarkably higher than that of CHB patients(95.1 ±21.3/low power field vs 9.5±10.6/low power field,P＜0.01).Further analysis revealed that the frequency of liver CD57+ NK cells in HBV-ACLF patients was positively correlated with the TBIL level.Conclusion The enhanced cytotoxic activity of peripheral NK cells and the recruitment of liver CD57+ NK cells may aggravate immune-mediated liver injury and promote the apoptosis and necrosis of hepatocytes.

Objective To observe the effects of pioglitazone on secretion of E2 and expressions of P450 aromatase (P450arom), insulin-receptor substrate-1 (IRS-1), and insulin-receptor substrate-2 (IRS-2) mRNA in polycystic ovary syndrome (PCOS) ovarian granulosa cells.Methods In this study, granulosa cells that were fertilization-embryo transferred from 27 PCOS patients were primary cultured in vitro with different concentrations of pioglitazone (0, 10, 102, 103 and 104nmol/L) (Group A), different concentrations of pioglitazone+FSH (50ng/L, Group B) and different concentrations of pioglitazone+insulin-like growth factor I (IGF-I, 50ng/L, Group C).Estradiol concentrations in the culture supernatant were detected by radioimmunoassay;P450arom, IRS-1 and IRS-2 mRNA expressions on granulosa cells were detected by Real-time PCR.Results The levels of E2 secreted by granulosa cells and the expression of P450arom mRNA on granulosa cells of PCOS for 48 hours were different among Groups A, B and C (P<0.05).With increase in pioglitazone concentration, the level of E2 and the expression of P450arom mRNA declined, some of which correlated negatively with the concentration of pioglitazone.Among these groups, the level of E2 secretion and the expression of P450arom mRNA were higher in Group C than in Group B (P<0.01) and Group A (P<0.01) at the same concentration of pioglitazone.The level of E2 secretion and the expression of P450arom mRNA were higher in Group B than in Group A (P<0.05) at the same concentration of pioglitazone.The expressions of IRS-1 and IRS-2 mRNA on granulosa cells of PCOS under pioglitazone stimulation for 48 hour were different among the groups of different pioglitazone concentrations (P<0.05).With increase inpioglitazone concentration, the expression of IRS-1 mRNA on granulosa cells of PCOS was decreased, but the expression of IRS-2 mRNA on granulosa cells of PCOS was increased.Conclusion Pioglitazone may decrease estrogen production by inhibiting p450 aromatase and adjusting the expressions of IRS-1 and IRS-2 on granulosa cells of PCOS to play a role in ovulation induction and ameliorate insulin resistance in ovary of PCOS.Pioglitazone can inhibit IGF-I and FSH in inducing E2 secretion by ovarian granulosa cells.

Objective To evaluate the effect of permanent right ventricular apical (RVA) pacing in different cumulative percent of right ventricular pacing( CUM% VP) on the heart function and cardiac ventricle structure in subjects with normal basic heart function. Methods Patients who had implanted pacemaker when heart function was still normal were recruited in the study while they revisited for replacement or examinations of implanted pacemaker at outpatient. According to different CUM% VP, patients were divided into group A ( CUM% VP≥85% ,n =78) and group B( CUM% VP≤40% ,n =63) . The primary composite endpoint was defined as new-onset heart failure, death, left ventricular ( LV ) dysfunction and remodeling. The occurrence of endpoints were compared between the two groups. The left ventricular end-diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF) and interventricular septum(IVS) were measured through baseline and follow-up, their absolute alterations ( △ LVEF, △ LVEDD and △ IVS ) were observed. Results The mean duration of two assessment was 7.4 years in group A and 7.7 years in group B, respectively. Before pacemaker implantation,there were no differences in age, sex, basic diseases, cardiac function and constituent ratio of pacemakers between the two groups. By comparing the outcomes of group A with those of group B at the end of follow up, we found that: △ LVEDD in group A was significantly larger than that in group B ( [3. 8 ± 0. 5] mm vs [1.4 ± 0. 4] mm,t = 4. 540,P ＜ 0. 01 ), △ LVEF was ( - 6.5 ± 1.2) % and ( - 3.3 ± 1.0) % in group A and B, respectively,with significant difference between the two groups(t = 2. 578 ,P ＜0. 01 ). There were no significant difference in AIVS between the two groups. No death occurred in both group at the end of follow up. The incidence of LV dysfunction and remodeling was 25.6% (20/78) in group A,which was significantly higher than that of 6.3% (4/63) in group B( x2 =9. 183 ,P =0. 002). and the incidence of new-onset heart failure was 10. 3% (8/78)in group A,which was significantly higher than that of 1.6% (1/63) in group B (x2 =4.383,P =0.036).Conclusion Among patients with normal basic LV function who underwent permanent RVA pacing,there are potential risk in developing LV remodel, function damage and heart failure. The risk increases with the pacing time getting longer and CUM% VP getting higher.

Objective To investigate the role of the chemokine receptor CXCR3 and its ligands in the migration of lymphocytes and acute hepatic failure. Methods BALB/cJ mice (6-8 weeks, female) were intraperitoneally injected with 100 PFU mouse hepatitis virus-3(MHV-3). The proportions and numbers of T cells and NK cells in liver, spleen, and blood as well as the expression of CXCR3 in T cells, and NK cells post MHV-3 infection was analyzed by flow cytometry. The hepatic mRNA level of the CXCR3-associated chemokines(CXCL9 and CXCL10) was detected by real-time PCR. A transwell migration assay was used to assess the chemotactic effect of MHV-3-infected hepatocytes and CXCL10 on the splenic lymphocytes. Results Following MHV-3 infection, the number of hepatic NK cells and T cells and the frequencies of hepatic NK cells and T cells expressing CXCR3 increased markedly; however, in the spleen and peripheral blood, they both decreased significantly. Moreover, the hepatic mRNAs levels of CXCL9 and CXCL10 were significantly elevated post infection. The transwell migration assay demonstrated that MHV-3-infected hepatocytes have the capacity to attract and recruit the splenic NK cells and T cells, and CXCL10 plays a key role in lymphocyte mobilization from the spleen. Conclusion Interactions between CXCR3 and its ligands (CXCL9 and CXCL10),especially CXCL10 may play a key role in the recruitment of intrahepatic lymphocytes and subsequent necroinflammation and acute hepatic failure in MHV-3 infection.