Williams syndrome is a rare disease caused by 1.5 ～ 1.8 Mb gene deletion in the chromosome 7q1 1.23 region,with autosomal dominant inheritance.The incidence is about 1/10 000.It involves the cardiovascular system,nervous system,endocrine system and so on,and is most likely to cause damage to the cardiovascular system.The mortality of sudden cardiac death in patients with Williams syndrome is higher than that in healthy population.At present,suspected patients were screened by Lowery score and the American pediatrics score,then were evaluated by imaging examination and were diagnosed by gene detection.The main therapy is symptomatic treatment.Therefore,it is important to ensure an accurate diagnosis and prompt treatment.In the article,the research progress of the clinical diagnosis,gene diagnosis,gene therapy and prognosis is reviewed.

Objective:To discuss the relationship between serum advanced oxidation protein products (AOPP)and cystatin C with the early preeclampsia pregnancy outcome.Methods:Clinical data of 75 patients received treatment and labor at our hospital from 2011 to 2013 was retrospectively analyzed.The control group included 60 normal pregnant women who received prenatal examination in our hospital at the same time.The difference in cystatin C and AOPP level of the patients with preeclampsia and the normal group was compared.The clinical data and the adverse pregnancy outcome of the patients with preeclampsia in different severity and different outcome of pregnancy were compared.Results:A total of 135 patients were retrospective analyzed ,including 75 in observe group and 60 in control group.The SBP level in the patients with preeclampsia is obviously higher than in the normal group .The level of SB,UA,Cr and AOPP in the patients of mild group is obviously lower than in the severe group.The incidence of oligohydramnios , placental abruption,fetal growth restriction and HELLP syndrome in the patients of mild group was obviously lower than in the severe group .The differences were statistically significant.The level of cystatin C,UA,Cr and AOPP in the patients of adverse pregnancy outcome were obviously higher than in the group of good outcome of pregnancy.Conclusion:The cystatin C and AOPP level of the early preeclampsia patients is obviously increased and it has significant correlation with the pregnancy outcome in patients .

p38 mitogen-activated protein kinase (MAPK) is an important intracellular signaling transduction pathway.Its major role is involved in inflammatory regulation and apoptosis.p38 MAPK is activated during the cerebral ischemia.Its expression level and the upstream and downstream protein phosphorylation levels will change.Ischemic preconditioning may mediate the survival or death of neuronal cells after cerebral ischemia through signaling transduction pathway.

Hypoxia-induciole factor-1 (HIF-1) is an important transcription factor.It participates in the body's response to the hypoxic environment mainly through its active subunit HIF-1α.During cerebral ischemia and hypoxia,the expression of HIF-1α is upregulated and may activate the expressions of multiple downstream target genes involving glycolysis,vascular growth,cell survival and apoptosis.It has an important significance for the improvement of energy metabolism and the establishment of microcirculation after cerebral ischemia.HIF-1α can not only promote the neuronal survival,but also mediate delayed neuronal death.A variety of preconditioning and postconditioning methods may regulate the survival and death of neuronal cells by activating HIF-1α.

The imported schistosomiasis cases in the Chinese literature and reports from the infectious disease monitoring in-formation system from 1979 to 2013 were collected and compiled. Totally 365 cases were reported to be infected with outside schis-tosomiasis, including 239 cases of schistosomiasis haematobia (74.0%) and 71 cases of schistosomiasis mansoni (22.0%), and 42 foreigners (11.5%) and 323 Chinese (88.5%). The infection areas involved 15 countries and regions in Africa. Totally 74.92%of pa-tients worked in the construction or geological prospecting in the wild field. According to the analysis of these cases, we found that the management system of prevention and control of imported schistosomiasis cases was not perfect including the high missing re-port rate, high misdiagnosis rate, and no standard diagnostic criteria. We suggest that all the levels of CDC or health administrative authorities should adopt the following relevant control measures to strengthen the imported schistosomiasis prevention and control in order to reduce the damage to the public health and the risk of the spread of African schistosomiasis in China:1. to establish and perfect the imported schistosomiasis monitoring and control system in China;2. to integrate the dynamic information platform of la-bor export and establish the comprehensive prevention and control management system of infectious diseases;3. to standardize the diagnosis and treatment of oversea imported schistosomiasis; 4. to strengthen the research on the transmission risk of imported schistosomiasis in the territory of China.

Objective To compare the consumption of the drugs for patient-controlled intravenous analgesia (PCIA) in patients with different blood groups. Methods One hundred female ASA Ⅰ or Ⅱ patients, aged 30-50 yr, body mass index ＜ 30 kg/m2 , scheduled for elective total hysterectomy or myomectomy, were enrolled in this study. The patients were divided into 4 groups according to the blood group: group A ( n= 25), group B ( n = 30), group AB ( n = 11 ) and group O ( n = 34). Patients received iv injection of flurbiprofen 30 min before the end of surgery and sufentanil at the end of surgery. PCIA with sufentanil 1.2 μg/ml ( bolus dose 2.0 ml, background infusion 0.5 ml/h, lockout interval 5 min) was performed when the VAS score ≤4. The loading dose and consumption on 1 st and 2nd day after operation for sufentanil were recorded. The adverse reactions were observed.Results The loading dose and consumption on 1st day after operation for sufentanil were the highest in group A and B, the second in group AB, and the lowest in group O among the 4 groups. Conclusion The consumption of the drugs for PCIA is different in patients with different blood groups.

Extensive use of tributyltin (TBT) has caused serious environmental pollution, which is harmful to human and other organisms. As a cytotoxic chemical, an important mode for TBT effects on the cells is to induce apoptosis. The present paper mainly reviewed the mechanism by which TBT induces apoptosis at low concentration.

Objective To evaluate MRI characteristics of soft tissue hemangioma.Methods 30 cases of soft tissue hemangiomaconfirmed by surgery,angiography and clinical diagnosis included in this study.All cases underwent plain MRI scans,24 cases of them were further-examined by contrast-enhanced MR scans.Results 24 cases were cavernous hemangioma,4 cases were capillary hemangioma and 2 were tufted hemangioma.The tumors showed moderate signal on T_1WI in 24 cases,and significantly higher signal on T_2WI in all cases(even stronger than that of fats).The vascular component within the tumor displayed remarkable enhancement and appeared as serpentinevessels,while the non-vascular tissues showed no enhancement after intravenous administration of contrast agent.Conclusion MRIexamination is of great importance in determining the position,the nature and the extent of hemangioma as well as the effectiveness ofoperation.

OBJECTIVE: To evaluate the status quo and trend of the application of narcotic drugs and psychotropic substances Ⅰ in Yangzhou area.METHODS: The narcotic drugs and psychotropic substances Ⅰ used in 124 hospitals of Yangzhou from 2005 to 2007 were analyzed in respect of consumption sum,DDDs and DDC etc. RESULTS: A total of 13 kinds of narcotic drugs and 4 psychotropic substances Ⅰ were used in the 124 hospitals,and the consumption sum of these drugs increased year on year.Fentanyl remained at the first place in terms of DDDs in each year,Remifentanil Hydrochloride for Injection and Sufentanil Citrate showed an obvious increasing trend in consumption,but the consumption of Bucinnazine Hydrochloride Injection(Tablet),Triazolam and Buprenorphine Hydrochloride Injection decreased to a large extent.CONCLUSION: The use of narcotic drugs and psychotropic substances Ⅰ in the 124 hospitals in Yangzhou area was basically in line with the standard.However,the DDDs of Pethidine Hydrochloride Injection had all along dominated the front place suggesting that clinicians should attach great importance to the standard treatment of cancer pain.

OBJECTIVE:To compare the efficacy and safety between caspofungin and fluconazole in the treatment of severe pulmonary fungal infection in intensive care unit. METHODS:36 patients with systemic fungal infections in intensive care unit were randomly assigned to receive caspofungin 50 mg?d-1 which was added into 250 mL normal saline and infused in no less than 1h for 14 days after initial dose of 70 mg(caspofungin group,n=18) or fluconazole 400 mg?d-1 for 14 days by iv gtt (fluconazole group,n=18). The curative efficacy and adverse events in the two groups were observed. RESULTS:The effective rate was 100.0% in caspofungin group versus 66.7% in fluconazole group. The incidence rates were 22.2% and 72.2%,respectively. There were significant differences in the overall effective rate between two groups(P