Objective To analyze the related pathogenicity gene mutations in a sudden death of hypertrophic cardiomyopathy (HCM) on whole exome level.Methods Whole exome sequencing (WES) was been performed on a sudden death case sample with pathological features of HCM by Illumina(R) Hiseq 2500 platform.Using hgl9 as the reference sequences,the sequencing data were analyzed.Suspicious single nucleotide variants (SNV) were screened,and the conservatism and function were analyzed by the software such as PhyloP,PolyPhen-2,SIFT,etc.Results After screening,a heterozygous mutation C719R was finally identified in the gene MYBPC3 of this case.Conclusion The molecular anatomy on whole exome level by second generation sequencing technology can help to define the molecular mechanism of HCM and provide a new mothed and thought for analysis of death cause.

Background Researches demonstrated that avastin-assisted vitrectomy for serious proliferative diabetic retinopathy can decrease intra-operation complication and bring down difficulty of surgery.It is speculated that this is associated with suppression of avastin on neovascularization.However,the evidence of its pathology is lack.Objective The aim of this study was to evaluate the application and mechanism of avastin in vitrectomy for severe proliferative diabetic retinopathy. Methods Twenty-four eyes from consecutive 24 patients with vitrectomy for severe proliferative diabetic retinopathy were enrolled in this study.Fourteen eyes received all intravitreal injection of 0.06 ml avastin(1.5 mg)14 days prior to vitrectomy。And the other 10 eyes underwent only vitrectomy without avastin injection as controls,Preretinal membranes were collected during vitrectomy for histopathologic examination by hemotoxylin and eosin staining.The differences in the density of the neovessels and micro-neovessels between the two groups were observed by detecting the expression of CD34 in vesse]endothelial cells using immunohistochemistry.Written informed consent was obtained from each patient before surgery. Results No statistically significant differences were found in the demography and eye manifestations between only vitreetomy group and avastin+vitrectomy group(P＞0.05).The neovessels with grade three was in 10 eyes in only vitrectomy group and 1 eye in avastin+vitrectomy group(P＜0.01).More capillary-like neovascularization with single vascular endothelial cells,obvious hemorrhage and inflammatory cells infiltration were observed on preretinal membranes in vitrectomy group.However,there were less hemorrhage,ceUular components and few capillary-like neovascularization but more hyaline degeneration of fibrous tissue were observed in avastin+vitrectomy group under the light microscope.Immunochemistry revealed that CD34 was positively expressed in vascular endothelial cells on preretinal membrane in both two groups.The neovessels density and miero-neovessels density were 15.40±7.42/field and 1.88±1.70/field in avastin+vitrectomy group and those in vitreetomy group were 18.00±3.80/field and 0.45±0.56/field respectively,showing significant differences between these two groups(neovessels density:Z=-4.102,P＜0.01;micro-neovessels density:Z=-4.137,P＜0.01).Conclusion As an adjunct drug during the vitrectomy for proliferative diabetic retinopathy, avastin can improve the successful rate of surgery by inhibiting the neovascular formation and alleviating retinal edema.

Objective To analyze the diagnostic feature, treatment and prognosis of patients with Cantrell syndrome. Methods Clinical manifestation, diagnosis, operation and follow-up data of 5 patients with Cantrell syndrome were summarized in this retrospective analysis. Results The age of the 5 patients was 7 days-76 years, definite diagnosis was made in 3 cases and 2 cases presented feature of incomplete Cantrell syndrome. Three patients with full Cantrell syndrome were correctly diagnosed before operation and confirmed by operation. One patient with incomplete Cantrell syndrome (two-vessel stenosis ) received bypass surgery. Another asymptomatic patient with incomplete Cantrell syndrome ( apical diverticulum of the left ventricle) does not need operation and is under observation. During follow-up, 1 patient died at 60months after operation and the remaining 4 patients are alive and well. Conclusions With the development of modern imaging technology, it becomes easy to make correct diagnose Cantrell syndrome before operation.Prognosis is fine post timely operation and related intervention.

Objective To study the clinical and imaging features of patients with bone metastases from breast cancer and identify the factors related to the incidence of bone metastases. Methods Three hundred and thirty-four patients with breast cancer were recruited into this study. Whole-body 99Tcm-methylene disphosphonate (MDP) bone scan, clinical staging, pathological, immunohistochemical and serological test results were analyzed retrospectively. χ2 test was used for statistical analysis. Results The incidence rate of bone metastases for patients with and without lymph node metastases was 71% (152/214) and 22. 5% (27/120), respectively (χ2 =72.80, P =0.000). The incidence rate of bone metastases from infiltrated non-specified and specified breast cancer was 69% (203/294) and 41.7% (5/12), respectively (χ2 =3. 97, P=0.046). Alkaline phosphatase (ALP) was elevated in 28.5% (51/179) and 14.9%(11/74) of patients with and without bone metastases, respectively (χ2 = 5. 25, P = 0.022 ). Carcinoembryonic antigen (CEA), carbohydrate antigen (CA) 15-3, CA125, CA19-9 increased in 68.7% ( 123/179) and 27.0% (20/74) of patients with and without bone metastases, respectively (χ2 = 37. 03, P =0. 000). Conclusions The incidence of bone metastases from breast cancer is correlated to pathological types of primary tumor and lymph node metastases. Bone metastases occurs more frequently in patients with infiltrated, non-specified, primary cancer and with lymph node metastases. Serum ALP, CEA, CA15-3,CA125, CA19-9 might be the tumor makers for early diagnosis of bone metastases from breast cancer.

Objective To explore the status of Keshan disease in Shaanxi province to provide a scientific basis for decision-making of prevention and control of Keshan disease. Methods Nineteen infected villages were randomly selected in 19 infected counties in the range of Keshan disease infected area in Shaanxi province in 2008 as the investigation sites. Clinical examination and electrocardiography were performed in the chosen people at every spots, chest X-ray of posteroanterior position film in 2-meter distance was taken in suspicious cardiac patients, and determining the selenium contents was also determined in the collected grain samples of the investigators. Results Of the 10 228 investigated residents in the endemic area, 110 Keshan disease patients were detected, the total detection rate was 1.08% (110/10 228). Among the 110 patients, 92 were potential Keshan disease, which accounted 0.90%(92/10 228); 18 chronic Keshan disease formed a detection rate of 0.18%( 18/10 228); no acute and sub-acute type of Keshan disease had been inspected. Potential Keshan disease patients often showed electrocardiogram abnormality of complete fight bundle branch block [48.57%(51/105)], ST-T change[ 19.05% ( 20/105 ) ], frequent premature ventricular contraction [ 10.48 % ( 11/105 ) ], left ventricular hypertrophy [ 5.71% (6/105) ], block in the anterosuperior division of the left branch[5.71%(6/105)]; Chronic of Keshan patients mostly presented atrial fibrillation [ 24.00% (6/25) ], left ventricular hypertrophy [ 20.00% (5/25) ], complete right bundle branch block [ 20.00% (5/25)]. The increase rate of cardiothoracie ratio was 18.08% (32/177). Food samples of wheat, corn, millet and rice in infected area residents were of selenium content, being (0.096± 0.028), (0.089 ±0.029), (0.087 ± 0.016), (0.047 ± 0.016)mg/kg, respectively. Conclusions Keshan disease in Shaanxi province is steadily declining, potential and chronic Keshan diseases are currently the main clinical types. Selenium content of food in endemic area has reached the level of the non-endemic area.

Objective To compare the predictive value of glomerular filtration rate (GFR)estimated by the Cockcroft-Gault formula or the modification of diet in renal disease (MDRD) equation and serum creatinine for in-hospital and long-term mortality post coronary artery bypass graft surgery (CABG).Methods Clinical data of 5559 consecutive patients undergoing isolated CABG were retrospectively analyzed. The main outcomes were in-hospital mortality and long-term mortality. Estimated GFR was calculated by the Cockcroft-Gault formula and MDRD equation respectively.Receiver-operating characteristic curves and Cox's analysis were used for the comparison.Results Follow-up was complete in 5485 patients (97.6%).Analysis of receiver-operating characteristic curves showed that GFR estimated by the Cockcroft-Gault formula had a maximal accuracy for predicting in-hospital mortality (area under the curve:0.755,P＜0.01).Multivariate logistic analysis and the Cox's analysis results indicated estimated GFR＜60 ml ·min~(-1)·1.73 m~(-2) base on the Cockcroft-Gault formula was an independent risk factor for in-hospital and long-term mortality(hazard ratio 4.51 for in-hospital mortality,P＜0.01 ;hazard ratio 1.54 for long-term mortality,P＜0.01),both Cockcroft-Gault formula and MDRD equation were superior to serum creatinine for predicting in-hospital and long-term mortality post CABG.Conclusion GFR estimated by the Cockcroft-Gault formula was superior to GFR estimated by the MDRD equation for predicting in-hospital mortality,and estimated GFR was superior to serum creatinine for predicting in-hospital and long-term mortality.

Objective To determine the prevalence and to identify risk factors of peri-procedure electrical storm (ES) in patients with acute myocardial infarction (AMI) underwent emergency percutaneous coronary intervention (PCI).Methods The clinical data of 228 AMI patients underwent emergency PCI were retrospectively analyzed and patients were divided into ES group (n = 39) and non-ES (n = 189) group.ES was referred to spontaneous ventricular tachycardia or ventricular fibrillation occurring twice or more within 24 h and requiring emergency treatment including anti-arrhythm medicine and/or cardioversion or defibrillation.Results ES was diagnosed in 39 out of 228 patients (17.1%) during peri-procedure stage.The incidence of ES in patients with various infarct related arteries (IRA) was as follows:55.6% with left main artery (LM),23.7% with right coronary artery (RCA),12.4% with anterior descending branch (LAD) and 0 with left circumflex artery (LCX).Older age,lager diameter of IRA,higher concentration of CK-MB and cTnT,higher incidence of reporfusion arrhythmia (RA),lower grade of TIMI after PCI and higher mortality were associated with increased risks of ES (The P value was 0.043,0.012,0.036,0.018,0.001,0.049,respectively).Gender,systolic pressure,diastolic pressure,random blood glucose level,white blood count and concentration of hs-CRP were similar between ES and non-ES patients.Logistic analysis showed that the diameter of IRA (OR 2.381,95% CI 1.127-5.028,P = 0.023),TIMI grade of IRA after PCI (OR 4.744,95% CI 1.773-12.691,P = 0.002) and RA (OR 12.680,95% CI 4.360-36.879,P =0.000)were the independent risk factors of per-procedure ES in AMI patients underwent emergency PCI.Conclusions The AMI patients with LM as IRA had the highest incidence of ES during emergency PCI and the diameter of IRA,TIMI grade of IRA after PCI and RA were independent risk factors for the development of ES during peri-PCI stage.

Objective To review the domestic and abroad development of helicopter emergency medical service. Literature resource and selection Relevant articles published in China and abroad.Literature quotation Thirty-six published references were cited. Literature synthesis The paper reviewed the history and actuality of helicopter emergency medical service and its applications.The evolution in China was also reviewed and expected and the suggestions for future development were proposed. Conclusion Helicopter emergency medical service is being widely used in the world due to its advantages, such as rapid response, high flexibility, less weather influence, etc. It wins the furthest possibilities in saving people's life, and such effective rescue and cure concept is fitted to modern medication. China has made a remarkable progress in the development of helicopter emergency medical service but is still behind with the world's advanced stage. Building the system with Chinese characteristics would be the critical affair.

Objective To review the domestic and abroad development of helicopter emergency medical service. Literature resource and selection Relevant articles published in China and abroad.Literature quotation Thirty-six published references were cited. Literature synthesis The paper reviewed the history and actuality of helicopter emergency medical service and its applications.The evolution in China was also reviewed and expected and the suggestions for future development were proposed. Conclusion Helicopter emergency medical service is being widely used in the world due to its advantages, such as rapid response, high flexibility, less weather influence, etc. It wins the furthest possibilities in saving people's life, and such effective rescue and cure concept is fitted to modern medication. China has made a remarkable progress in the development of helicopter emergency medical service but is still behind with the world's advanced stage. Building the system with Chinese characteristics would be the critical affair.

Objective To know the prevalence tendency of Keshan disease(KSD) under control after 10 years in Shaanxi Province, the factors that causes or relative to the disease, to provide scientific reference for disease's prevention and control. Methods Through stratified cluster sampling, based on the severity of KSD in endemic area of Shaanxi Province, 12 villages from 6 counties were randomly selected as investigation points in 2006. The people older than 3 year-old were chosen to do clinical check up and electrocardiogram tracing. Among them, suspicious or abnormal cases were asked to take chest X-ray and cardiac ultrasound. Maize and rice, hair and whole blood were randomly collected to test the selenium content, the activity of Glutathione peroxidase (GSH-Px). Results The total detection rate of potential or chronic KSD was 2.44%(139/5694), the detection rate of abnormal ECG was 9.19% (523/5692), the detection rate of cardiac enlargement from chest X-ray and cardiac ultrasound were 45.6%(72/158) and 34.5%(59/171) respectively. The average content of selenium in staple foods(wheat and corn) were[(0.045±0.036), (0.035±0.025)mg/kg, respectively]. The level of hair selenium in patients and healthy people were [(0.376±0.091), (0.384±0.077)mg/kg, respectively], with non-significant different (u=0.77, P>0.05). There were significant differences in whole blood selenium of patients, healthy people in KSD areas and healthy people in non-KSD areas[(0.071±0.017), (0.077±0.017), (0.090±0.016)mg/L, respectively; F=4.55, P<0.05), the whole blood selenium in patients lower than in healthy people in KSD areas (P<0.05), in healthy people in KSD areas lower than in non-KSD areas (P<0.05). Conclusions After the KSD condition being controlled, the situation in Shaanxi Province has become stable and exhibited a decreasing tendency. The selenium level of both internal and external environment in the endemic area increased significantly, that is the main factors of controlling disease.