Objective To investigate the carrying rate and genotype of thalassemia in the household population of Yantian dis-trict in Shenzhen city so as to provide the scientific basis for Thalassemia genetic counseling,prenatal diagnosis and prevention plan. Methods 3 mL of anticoagulation blood by EDTA-K2 was extract for conducting the whole blood cells analysis.With the mean cor-puscular volume(MCV)<80 fL as the preliminary screening test,then the suspected cases were performed the DNA extraction for conducting the gene test.In theα-thalassemia detection,4 pairs of PCR primer were used to amplify in the same reaction system and the results were analyzed according to the band after the agarose gel electrophoresis.In theβ-thalassemia detection,the PCR product sequencing was adopted.Results After the preliminary screening,4 657 suspected cases all were performed the gene detection.510 carriers with thalassemia gene were detected out with the thalassemia gene carrying rate of 10.95%,including 389 cases carryingα-thalassemia gene with the carrying rate of 8.35%,which was dominated by α-3.7,α-4.2 and α-SEA,and 121 cases carrying βthalassemia gene with the carrying rate of 2.59%,which was dominated by CD41.42,LVS-Ⅱ-654,CD17 and CD71.Conclusion The carrying rate of thalassemia gene in the household population of Yantian district was 10.95%,which is closed to that in other districts within Guangdong province,all of the 8 detected genotypes of thalassemia are the common types.

Objective:To evaluate the value of combined measurement of urinary insulin-like growth factor-binding protein 7 (IGFBP7) and urinary metalloproteinase inhibitor-2 (TIMP-2) in the early diagnosis and prognosis of cardiac surgery-associated acute kidney injury (CSA-AKI).Methods:From March 2018 to June 2018, cardiac surgery patients admitted to the cardiac macrovascular surgery department of the First Affiliated Hospital of Nanjing Medical University were prospectively included, and the blood creatinine was monitored to observe the presence of acute kidney injury (AKI). The prognostic information of the patients was collected, including in-hospital dialysis, in-hospital death, complete recovery of kidney function at discharge, death in one year after surgery, and progression to chronic kidney disease. The levels of urine IGFBP7 and TIMP-2 at 6 h, 24 h and 48 h after cardiac surgery were detected by enzyme linked immunosorbent assay (ELISA), and the urine creatinine (Cr) was also measured. Moreover, receiver operating characteristic curves (ROC) were plotted and the areas under the curves ( AUC) were calculated to evaluate the predictive value and prognostic value of urinary [TIMP-2]·[IGFBP7] (T*I for short) and urine T*I/urine Cr 2 in CSA-AKI. Results:A total of 74 patients with age of (58.43±10.91) years old and 47 males, were enrolled in this study, of which 24 cases (32.4%) had AKI and 10 cases (13.5%) had stage 2-3 AKI. Compared with the non-AKI group, the AKI group had significantly higher levels of urine T*I levels at 6 h and 24 h (both P<0.05). The AUC of T*I at 24 h predicting for AKI was 0.71(95% CI 0.59-0.81, P=0.001, cutoff value 0.020, sensitivity 79.2%, specificity 56.0%), while the AUC for stage 2-3 AKI was 0.85 (95% CI 0.75-0.92, P<0.001, cutoff value 0.083, sensitivity 70.0%, specificity 90.6%). Urinary T*I normalized for urinary creatinine excretion did not show better predictive value. In addition, of T*I at 24 h predicting for poor hospitalization outcome, renal recovery, and one year postoperative death, the AUC was 0.82(95% CI 0.71-0.90, P=0.001), 0.80(95% CI 0.66-0.86, P<0.001), and 0.81(95% CI 0.70-0.89, P=0.047), respectively. Conclusion:The combined detection of TIMP-2 and IGFBP7 in urine is expected to be a biomarker for early diagnosis of CSA-AKI and has certain clinical value in predicting the prognosis of CSA-AKI.

Objective To observe the value of speckle-tracking imaging (STI) in evaluation on degree of coronary artery stenosis in patients with coronary artery disease (CAD).Methods Totally 74 CAD patients,including 59 with coronary artery stenosis (coronary artery stenosis group) and 15 without coronary artery stenosis (no coronary artery stenosis group) underwent STI and echocardiography.Based on Gensini scores,the patients in coronary artery stenosis group were further divided into mild,moderate and severe subgroups.The average global longitudinal strain (GLS-Avg),basement global longitudinal strain (GLS-Bas),middle global longitudinal strain (GLS-Mid) and apical global longitudinal strain (GLS-AP) value were measured and compared.Results GLS-Avg,GLS-Bas,GLS-Mid and GLS-AP value in coronary artery stenosis group were lower than those in no coronary artery stenosis group (all P ＜ 0.001).In coronary artery stenosis group,with the increase of stenosis severity,GLS-Avg,GLS-Bas,GLS-Mid and GLS-AP value decreased,and statistical differences were found between each two subgroups (all P＜0.05).In coronary artery stenosis group,there were positive correlations between GLS-Avg,GLS-Bas,GLS-Mid,GLS-AP value and Gensini scores (r=0.861,0.847,0.819 and 0.778,all P＜ 0.05).Conclusion GLS value of STI can reflect the severity of coronary artery stenosis in CAD patients.