Intellectual disability is a genetically heterogeneous disease,however,more than half of the genetic etiologies still remain unexplained.Since whole exome sequencing is applied for intellectual disability,a mature work flow has been established,which firstly discovered some important causative genes.This paper reviews the application,advantages and disadvantages of whole exome sequencing for sporadic,unexplained intellectual disability.

Objective To explore the clinical characteristics,relationship between treatment and prognosis of sarcoidosis and relationship of relapse to prednisone.Methods The clinical data of 165 patients with sarcoidosis were collected.The clinical characteristics,treatment process and prognosis,relationship of relapse with prednisone maintenance dose and course of treatment were retrospective analyzed.Results Among them,the most common involved systems were lung and lymph nodes.The involvement rates of lung,extra-thorax lymph nodes,cutaneous,ocular,salivary glands,liver & spleen,kidney and nervous system was 87.3％,51.5％,6.7％,6.1％,6.1％,4.2％,1.2％ and 1.2％ respectively.Unilateral tonsil,breast,ovary and bone involvement was seen in only 1 patient respectively with an involvement rate of 0.6％.A retrospective analysis was made for 114 cases with complete follow-up data.The mean follow-up period was (11.7 ± 5.7) (5-32) years.And 46 cases had no symptom on routine medical examinations.The most common consulted departments were respiratory,dermatological and general surgery departments.Among 74 patients on prednisone,48 patients (64.9％) were cured while 13 patients (17.6％) relapsed.Whereas in the observation group,25/38 patients (65.8％) remitted spontaneously and only 1 patient (2.6％) had recurrence.Relapse occurred more often in prednisone therapy group than in observation group (P ＜ 0.05).Longer prednisone 10-15 mg daily maintenance and a longer total course of treatment were associated with fewer recurrence(P ＜ 0.05).Conclusions The clinical manifestations of sarcoidosis vary and many patients have a self-limiting course.The most common involved systems are lung and lymph nodes.Stage Ⅰ / Ⅱ disease should be observed before prednisone therapy.Prednisone 10-15 mg daily for at least 6 months and a total course of treatment over 18 months may prevent relapse.

Objective To study a new and rapid method for detection of anti-histoplasma antibody by dot immunogold filtration assay (DIGFA). Methods DIGFA was developed by coating purified protein derivative of histoplasmin (P-HTPM) on nitrocellulose membrane as membrane antigen and labeling SPA with colloidal gold. Anti-histoplasma antibodies in sera from mice immunized with Histoplasma were detected by DIGFA. Results All immunizedsera with Histoplasma were positive by DIGFA as well as the results detected by ELISA. The sera immunized respectively with Monilia and Penicillium marneffei were negtive by DIGFA while 1 of 8 immunizedsera with Blastomyces dermatitidis and 2 of 9 immunizedsera with Paracoccidioides brasiliensis were found to be positive. Conclusion DIGFA was a valuable and rapid method to detect histoplasmaantibody in serum.

This research focused on the doctors' changes based on the performance-payment reform from a district public hospital of Chongqing.The work compared the doctors' work efficiency,medical quality,scientific research,new technology and new project,cost control and patients burden.Performance-payment reform significantly activated doctors' self-study initiative and quality.The main running quotas of hospital,including stuff's positivity,work efficiency,medical quality,scientific research,new technology and new project,presented a better improvement trend.This not only reduced the patient cost burden,relieved the doctor-patient relationship,but also improved the hospital personnel cohesion,and strengthened the core competitiveness of the hospital.

Objective To study the effects of high volume hemofiltration (HVHF) according to pulse-indicated continuous cardiac output (PiCCO) on patients with acute respiratory distress syndrome (ARDS).Methods A prospective randomly controlled trial was conducted.163 patients with ARDS admitted to Taizhou People's Hospital,Medical College,Nantong University,between February 2011 and January 2014,were enrolled.The patients were randomly divided into conventional therapy group (n＝ 50),HVHF group (n =55),and PiCCO + HVHF group (n＝58) by random number table.The patients in conventional therapy group received routine treatment including mechanical ventilation and drug treatment according to ARDS treatment guideline.The patients in the HVHF group received HVHF treatment of 18 hours per day on 1,3,5,7 days on the basis of conventional therapy.Patients in the PiCCO + HVHF group received HVHF treatment according to PiCCO.The indexes of lung function and PiCCO monitoring were recorded at intensive care unit (ICU) admission (before) and 4 days and 7 days after treatment.The serum levels of tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) were determined by enzyme linked immunosorbent assay (ELISA),and the prognosis of patients was recorded.Results In three groups,oxygenation index (PaO2/FiO2),static lung compliance (Cs) were gradually increased,and respiratory rate (RR),lactic acid (Lac) were gradually decreased.The indicators in HVHF and PiCCO + HVHF groups were significantly improved compared with conventional therapy group.The indexes in PiCCO + HVHF group were significantly increased or decreased compared with those in HVHF group,and the statistical differences were found on the 7th day after treatment [PaO2/FiO2 (mmHg,1 mmHg=0.133 kPa):189.3 ± 36.8 vs.166.3 ± 36.1,Cs (mL/cmH2O):76.7 ± 18.9 vs.67.0 ± 18.2,RR (times/min):16.4 ±5.2 vs.19.2 ± 5.4,Lac (mmol/L):1.20 ±0.41 vs.1.41 ±0.43,all P＜0.01].In PiCCO +HVHF group,cardiac index (CI) was gradually increased,and extra vascular lung water index (EVLWI) and intra thoracic blood volume index (ITBVI) were gradually decreased.There were significant differences in the indexes 4 days and 7 days after treatment compared with those before treatment [CI (L·min-1·m-2):4.62 ± 1.13,4.83 ± 1.10 vs.4.01 ± 1.02,EVLWI (mL/kg):7.6 ± 2.7,6.5 ± 2.6 vs.12.4 ± 2.9,ITBVI (mL/m2):801.3 ± 120.9,785.4 ± 118.7 vs.980.1 ± 168.6,all P＜0.01].After treatment,the serum levels of TNF-α and IL-1β in three groups were gradually decreased.Compared with the conventional therapy group,the serum levels of TNF-α and IL-1β on 4 days and 7 days in the HVHF and PiCCO + HVHF groups were significantly decreased,and the statistical differences were found on 7 days [TNF-α (ng/L):68.35 ± 12.63,67.54 ± 12.90 vs.85.35 ± 13.70; IL-1β (ng/L):424.6 ± 142.9,412.2 ± 140.2 vs.895.2 ± 187.7,all P＜0.01].Compared with the HVHF group,the serum levels of TNF-α and IL-1β in the PiCCO + HVHF group were slightly decreased without statistical differences.Compared with the conventional therapy group,the number of organ failure,duration of mechanical ventilation,the length of stay in ICU and hospital mortality in HVHF group and PiCCO + HVHF group were lowered,and the statistical differences were found in PiCCO + HVHF group compared with HVHF group [number of organ failure:2.41 ± 0.79 vs.2.72 ± 0.80,duration of mechanical ventilation (days):4.8 ± 2.0 vs.5.7 ± 2.1,the length of stay in ICU (days):11.5 ± 3.4 vs.13.1 ± 3.6,hospital mortality:31.0％ (18/58) vs.41.8％ (23/55),all P＜0.05].Conclusions Levels of inflammatory factors in patients with ARDS could be reduced by HVHF.The oxygenation and compliance of lung can be improved,the number of organ failure can be lowered,the duration of mechanical ventilation and the length of stay in ICU can be shortened,and the hospital mortality could be declined by PiCCO guided HVHF.

Objective To study the expression of VEGF-C and its receptor in breast carcinoma tissue and in peritumoral tissue,as well as their clinic significance.Methods Immunohistochemistry SP method was used to examine the expression of VEGF-C and VEGFR3 in 70 cases of breast cancer and in its peritu- moral tissue.Results In all 70 cases of breast cancer,the positive expression rate of VEGF-C in breast car- cinoma tissue was 78.6 %,and its rate in peritumoral tissue was 54.3 %.There was a significant stastistic dif- ference between the two groups(P

Objective To evaluate the effect of propofol on interleukin-1β (IL-1β)-induced increase in monolayer permeability of human umbilical vein endothelial cells (HUVECs).Methods Primary HUVECs were cultured and purified by immuno-magnetic separation.The expression of VE-cadherin in endothelial cells was determined by immunofluorescence.The HUVEC monolayer permeability was detected by the Transwell system.The cells were seeded on the upper chamber (2 × 105 cells/well) and cultured for 3 days after confluence.The cells were treated in two ways.The cells were randomly divided into 6 groups (n =36 each) and 5 of the 6 groups treated with 1,2,5,10 and 20 ng/ml IL-1β for 24 h except for control group.The cells were also randomly divided into 5 groups (n =30 each) and 4 of the 5 groups were pretreated with 0,10,50 and 100 μmol/L propofol for 30 min,and then treated with 10 ng/ml IL-1β for 24 h except for control group.The cells were radomly divided into 3 groups (n =18 each) and 2 of the 3 groups were pretreated with 50 μmol/L propofol for 30 min,and then treated with 10 ng/ml IL-1β for 24 h or 30 min.The expression of occludin protien,p38 mitogen activiated protienkinase (p38 MAPK) and phosphorylated p38 MAPK (p-p38 MAPK) was determined by Western blot.Results Compared with control group,5,10 and 20 ng/ml IL-1β significantly increased HUVEC monolayer permeability in a concentration-dependent manner (P ＜ 0.05 or 0.01).10,50 and 100 μmol/L propofol inhibited IL-1 β-induced increase in the permeability of HUVEC monolayer permeability in a concentration-dependent manner (P ＜ 0.01).IL-1β could down-regulate HUVEC occludin protein expression,and activate p38MAPK signaling pathway,and propofol inhibited IL-1β-induced down-regulation of HUVEC occludin protein expression and activation of p38 MAPK signaling pathway (P ＜ 0.01).Conclusion Propofol can alleviate IL-1β-induced increase in the permeability of HUVEC monolayer via inhibiting activation of p38 MAPK signaling pathway.

Organ transplantation is an effective treatment for end-stage organ failure. The shortage of donors severely restricts the development of organ transplantation, which is also an unresolved challenge in the reform of organ transplantation in China. To alleviate the shortage of donors, western countries have established the working mechanism of systematic multi-department collaboration (SMDC), which has significantly elevated the level of organ donation by promoting systematic collaboration among relevant departments in all aspects of organ donation. At present, organ donation and transplantation in China have entered the new stage of high-quality development, whereas the level of organ donation remains to be further improved. In this article, the concept of SMDC, the procedures and departments related to SMDC, and the international experience of SMDC were illustrated. Besides, suggestions and proposals were delivered for implementing SMDC in China and constantly developing and modifying the Chinese model of organ donation catering to national conditions.

Objective To explore the clinical features,genetic causes and prognosis of intellectual disability with epilepsy(ID-E)in children.Methods The data of unknown causes of ID-E children(n=40)who were identified in Department of Pediatrics,Xiangya Hospital of Central South University from March 2015 to March 2016 were respectively analyzed,and follow-up studies were performed to investigate the epilepsy control and intellectual deve-lopment.Results Forty unexplained ID-E included 25(62.5％)male,and 34(85.0％)cases were severe intellectual disability patients.The onset age of epilepsy was 0.16 to 8.00 years old,median age was 1.5 years old.Twenty cases(50.0％)had slow electroencephalogram background,and 22 cases(55.0％)had focal spikes.Ten cases(25.0％)had abnormal cranial images,with brain dysplasia or atrophy.Follow-up lasted from 0.58 to 1.58 years,and 19 cases(47.5％)had seizure control.Twenty-five cases(62.5％)had used at least 2 anti-epilepsy drugs during follow-up,and 19 cases(47.5％)had drug refractory epilepsy.Improvement of mental or motor development in epilepsy controlled group and the uncontrolled group were 12 cases(63.2％)and 2 cases(9.5％).There were separately 8 cases(8/40 cases,20.0％)and 3 cases(3/16 cases,18.8％)diagnosed respectively by whole genome-wide analysis of copy number variants(CNVs)and gene-panel whose CNVs test findings were negative.Conclusions ID-E patients of unknown causes have the following clinical features:they were mostly found in male patients with severe intellectual disability,and drug refractory epilepsy patients have rather high percentage;well controlling of epilepsy is useful for improvement of mental and motor development.Genetic analysis is significant for control and prognosis of ID-E patients,and genome-wide CNVs have high positive rates which can be used as first-tier test to detect genetic etiology of ID-E of unknown cause.

Objective To explore the feasibility of evaluating cardiac structure, coronary artery,pulmonary artery and cardiac function in one single scan by 320-row CT ECG-gated double phase cardiac function scan mode. MethodsForty patients underwent the 320-detector row CT double phase cardiovascular angiography. The pulmonary phase and aortic phase were reconstructed in order to evaluate the pulmonary and coronary artery. MPR reconstructions of both pulmonary and aortic phase were used to analyze the function of the two ventricles. And the results of the cardiac function were compared with those of transthoracic echocardiography. Thirty-five cases could be analyzed and diagnosed, while the other 5 cases had to be given up because of the poor imaging quality. The mean heart rate was (71.2 ± 11.2) beat per min (bpm). No arrhythmia case included. Results ( 1 ) Pulmonary embolism were diagnosed in 11 cases,coronary artery disease (CAD) were found in 5 cases, while post-stent implantation were observed in 7 cases. Six cases of congenital heart disease were diagnosed with 3 ASD and 3 primary pulmonary hypertension. Another one was diagnosed with left atrial myxoma, and 5 cases were pulmonary embolism associated with CAD. All of above cases were verified by final clinical diagnosis. (2) The heart function parameters including LVEDd , RVEDd, LVESd, RVESd and LVEF were (36.7 ±3.3), (43.3 ± 3.4) mm,(31.6±5.1), (41.3 ±5.1) mm and (47.1 ±15.1) for CT, while those were (40.3 ±3.1), (47.3 ±4.2) mm,(37.3 ±5.6), (45.3 ±3.3) mm,and (46.0 ± 14.8) for ultrasound, respectively. The CT results were correlated with the ultrasound ( n = 35, r = 0.886-0.988, P ＜ 0.01 ). (3) The average radiation exposure was ( 5.4 ± 0.5 ) mSv. Conclusions 320-row CT ECG-gated double phase cardiac function scan mode is feasible for the "one-stop-shop" examination of the cardiovascular disease. This noninvasive method is recommended for the diagnosis, differential diagnosis, treatment and prognosis of cardiovascular disease.