Objective To investigate the clinical significance of fetal tricuspid regurgitation (TR) in the screening of chromosomal abnormalities at the first-trimester. Methods Screening for chromosomal abnormalities was carried out in 1 262 fetuses at 11+0 to 13+6 weeks. Ultrosound was performed to measure crown rump length and nuchal translucency (NT) thickness, and to acquire tricuspid waveform. All the neonates were followed up for 6 months after birth. Results Among the 1 262 fetuses, 68 were found to have TR. TR was present in 54 (4.4%) of the 1 239 chromosomally normal fetuses, and in 14 (61%) of the 23 with chromosomal abnormalities. Cardiac malformations were detectable in 28 fetuses. The prevalence of TR was 64%in those with cardiac malformations and 1.5%in those without cardiac malformations. Conclusions Tricuspid regurgitation is an effective predictor for the detection of fetal chromosomal abnormalities at the first trimester.

Objective To observe the effects of the intervention of Didang Decoction at different times on changes of AMPK signaling pathway related factors in macrovascular endotheliocytes of diabetic rats; To discuss the mechanism of mitochondria energy metabolism regulating the AMPK signaling pathway for macrovascular endothelial defense function. Methods Injection of STZ into the caudal vein and administration of high fat diet wer used to generate diabetic rat model. All rats were randomly divided into the following 7 groups: control, model, metformin, simvastatin, early-, middle-, and late-stage Didang Decoction group. Western blot was used to detect the expressions of APMKα1 and PGC-1α in rat aortic endothelial cells. Changes in the intracellular AMP and ATP levels were detected by ELISA. Real time fluorescence quantitative PCR was used to detected mRNA expressions of Caspase-3, eNOS, and Bcl-2 in tissue of thoracic aorta. Results Compared with the model group, the expressions of AMPKα1 and PGC-1α in the early-stage and middle-stage Didang Decoction group and simvastatin group increased (P<0.05); the gene expressions of Bcl-2, and eNOS significantly increased in the early-stage Didang Decoction group and simvastatin group (P<0.05), while the expressions of Caspase-3 decreased significantly (P<0.05). The expression of ATP increased significantly and the expression of AMP decreased significantly in the early-stage Didang Decoction group and simvastatin group (P<0.05), and the best effects were shown in the early-stage Didang Decoction group. Conclusion Early intervention of Didang Decoction can enhance energy metabolism in the mitochondria of macrovascular endothelial cells by regulating the AMPK signaling pathway, and then plays a role in strengthening the defense function of macrovascular endothelial cells.

Objective To investigate the effects of UDP glucuronosyltransferase (UGT) 1A9 I399 C ＞ T single nucleotide polymorphism on postoperative sedation with propofol in patients undergoing breast surgery.Methods One hundred and fifty-two ASA Ⅰ or Ⅱ female patients,aged 20-50 yr,weighing 50-70 kg,scheduled for elective benign breast tumor excision under general anesthesia,were enrolled in this study.The polymorphic sites of the UGT1A9 I399 C ＞ T allele were analyzed by polymerase chain reaction-restriction fragment length polymorphism.The patients were assigned to one of 3 groups according to their genotypes:wild homozygote (C/C) group,mutation heterozygote (C/T) group and mutation homozygote (T/T) group.During induction and maintenance of anesthesia,propofol was given by target-controlled infusion with the plasma concentration (Cp) of 3μg/ml.Blood samples were taken at 60 min after target-controlled infusion of propofol was started for determination of the Cp of propofol using high-performance liquid chromatography.The time when OAAS was 4 after stopping the infusion of propofol was recorded and the BIS value and effect-site concentration of propofol were also recorded at this time.The time when BIS value was 80 was recorded and the effect-site concentration of propofol was also recorded at this time.Results Genotyping analysis revealed that genotype distribution of UGT1A9 I399 C ＞ T polymorphism was C/C 24 cases,C/T 96 cases and T/T 32 cases.The T allele frequency was 53％.The C allele frequency was 47.4％.There was no significant difference in the Cp of propofol,time when OAAS was 4,BIS value and effectsite concentration of propofol when OAAS was 4,time when BIS value was 80 and effect-site concentration of propofol when BIS value was 80 among the three groups (P ＞ 0.05).Conclusion UGT1 A9 I399C ＞ T single nucleotide polymorphism is not the genetic factor contributing to the individual variation in the patient' s response to postoperative analgesia with propofol in patients undergoing breast surgery.

Objective To prepare the Env-pseudotyped subtype B HIV-1 with enhanced green fluorescent protein ( EG-FP) gene,explore HIV-1 infection mechanisms and develop feasible methods of identification .Methods The Env-pseudo-typed viruses were packaged in HEK293T cells by cotransfection, and the reporter gene and P24 protein were detected by PCR, Western blot and ELISA .Reporter gene amplification , viral titration assay and a single round of infection assay were performed after the env-pseudotyped viruses infected HIV-1 permissive cell .Results and Conclusion A generation and identification method of the pseudotyped HIV-1 was established . The Env-pseudotyped subtype B HIV-1 has been prepared, which is able to infect SupT1 and TZM-bl cells through infection assay .

This study described the radiological features on echocardiography and MRI specific to cardiac amyloidosis confirmed on biopsy. Eleven cases of biopsy-proven cardiac amyloidosis were retrospectively reviewed in this study. All patients underwent biopsy, cardiac MRI and echocardiography. The main echocardiography and MRI findings were as follows: diffuse ventricular and septum wall thickening, atrial enlargement, pericardial effusion, restricted left ventricular (LV) systolic and diastolic function, characteristic granular sparkling of myocardium. MRI revealed a characteristic pattern of global subendocardial late enhancement, extending in varying degrees into the neighboring myocardium. The findings agreed with the infiltration distribution of amyloid protein. Typical abnormalities seen on echocardiography and MRI should have important diagnostic and prognostic value of cardiac amyloidosis. MRI should be considered in the diagnosis of cardiac amyloidosis if echocardiographic features are suspicious.

Objective To investigate the clinical efficacy of combined use of calcineurin inhibitor in the treatment of lupus nephritis in induction or maintenance,which is resistant to mycophenolate mofetil.Methods Sixty-six cases of children with lupus nephritis were selected from February 2014 to September 2016 in Huazhong University of Science and Technology,Tongji Medical College Affiliated Wuhan Children's Hospital.The randomized method was used to divide them into the control group and the observation group randomly.Among them,31 cases in the control group were given glucocorticoid,cyclophosphamide combined with traditional medicine for treatment;35 cases in observation group were given glucocorticoid,mycophenolate mofetil,tacrolimus (calcine phosphatase inhibitor) multi-target therapy for treatment.The clinical effect of 2 groups before and after treatment were compared,and the incidence of adverse reactions in the treatment of 2 groups of children were compared.Results After treatment,the levels of systemic lupus erythematosus disease activity index (SLEDAI),serum creatinine and 24 h urine protein [(6.05 ± 1.04) scores,(45.08 ± 18.52) μmol/L,(0.96 ±0.30) g/L] in the observation group were lower than those in the control group [(11.09 ±2.33) scores,(95.33 ±36.74) μmol/L,(2.05 ±0.74) g/L],and the differences were statistically significant (t =3.097,3.356,3.871,all P ＜ 0.05).Serum complement C3,plasma albumin levels [(1.05 ± 0.28) g/L,(63.24 ± 12.98) g/L] were higher than those in the control group [(0.34 ±0.10) g/L,(35.45 ±6.74) g/L],and the differences were statistically significant (t =4.124,3.567,all P ＜ 0.05).After treatment,the levels of serum complement C3 and plasma albumin were significantly higher between 2 groups than those before treatment,the differences were statistically significant (all P ＜ 0.05).The incidence of adverse reaction (14.29％,5/35 cases) in the observation group was lower than that in the control group (38.71％,12/31 cases),and the difference was statistically significant (x2 =5.128,P ＜ 0.05).Conclusion Multi-target combination therapy and traditional cyclophosphamide therapy can effectively control lupus nephritis in children,but the clinical effect of multi-target combination therapy is better and the adverse reaction is less.

Objective To investigate the expression and significance of mRNAand exon mutationof NT5C2 gene in acute lymphoblastic leukemia (ALL) bone marrow.Methods Case control study design was used in this study.Bone marrow samples were collected from ALL patients in Anhui Provincial Cancer Hospital in recent 4 years.The patientswere divided into the initial diagnosis group , the complete remission group and the recurrence group.And they could specifically be divided into 36 patients initially diagnosed, 36 patients who achievedcomplete remission and 16 patients who relapsed with children B -ALL,15 patients initially diagnosed,15 patients who achievedcomplete remission and 9 patients who relapsed with children T -ALL, 18 patients initially diagnosed,18 patients who achievedcomplete remission and 12 patients who relapsed with adult B-ALL, and 11 patients initially diagnosed,11 patients who achievedcomplete remission and 6 patients who relapsed with adult B -ALL.The initial diagnosis,complete remission and recurrence samples were matched.8 children and 8 adults without hematologic malignanciewere used as controls .Real-time PCR was performed to detect the level of NT5C2 mRNAin ALL patients.The exons of NT5C2 gene were cloned and sequenced for the common mutations in all cases .The results of NT5C2 mRNA levels in different groups were performed using non -parametric test by SPSS16.0 analytics software, and then non-parametric test together with correlation analysis was analyzed between NT 5C2 mRNA levels of different initial diagnosis groups and gender, age, leukocyte level and risk classification .Results (1)The expression of NT5C2 mRNA levels of recurrence group were higher than that of initial diagnosis group ,complete remission group and controls in children and adult B -ALL respectively(P <0.01).(2)NT5C2 mRNA expression in children and adult T-ALL showed no difference in initial diagnosis ,complete remission, recurrence group and controls (P >0.05).(3)NT5C2 mRNA expression of initial diagnosis group in children and adult B -ALL and T-ALL was not correlated with risk classification (P >0.05).(4)A newheterozygousmutation p.P414A of NT5C2 was discovered in a recurrencesample.Conclusions (1) High expression ofNT5C2 mRNA is associated with recurrence inchildren and adult B-ALL, and it may be an indicator of monitoring recurrence .(2)The incidence of exons mutation of NT5C2 gene in ALL is low in China.

Objective To assess the values of MRI and echocardiography for the diagnosis of cardiac amyloidosis (CA). Methods Eleven cases with CA proved pathologically performed MRI and echocardiography, the findings were analyzed retrospectively. Results The characteristic features of cardiac amyloidosis on MRI and echocardiography were:diffuse slight myocardial thickening of the left ventricular wall and interventricular septum (11 cases ), slight myocardial thickening of the interatrial septum (5 cases), increased left ventricular mass (7 cases), enlarged left atrium ( 7 cases), impaired ventricular systolic and diastolic function (10 cases ), pleural and pericardial effusions (11 and 9 cases ).Echocardiography showed that myocardium was hyperechoic and presented as ground glass with some spotty hyperechoes in 6 cases. MRI revealed a distinct diffuse delayed enhancement of subendocardial and entire myocardium in 8 cases. Conclusion Doppler echocardiography is the first-choice imaging technique and cardiac magnetic resonance imaging can provide more information for the diagnosis of CA.

This study described the radiological features on echocardiography and MRI specific to cardiac amyloidosis confirmed on biopsy.Eleven cases of biopsy-proven cardiac amyloidosis were retrospectively reviewed in this study.All patients underwent biopsy,cardiac MRI and echocardiography.The main echocardiography and MRI findings were as follows: diffuse ventricular and septum wall thickening,atrial enlargement,pericardial effusion,restricted left ventricular(LV)systolic and diastolic function,characteristic granular sparkling of myocardium.MRI revealed a characteristic pattern of global subendocardial late enhancement,extending in varying degrees into the neighboring myocardium.The findings agreed with the infiltration distribution of amyloid protein.Typical abnormalities seen on echocardiography and MRI should have important diagnostic and prognostic value of cardiac amyloidosis.MRI should be considered in the diagnosis of cardiac amyloidosis if echocardiographic features are suspicious.

Quantitative proteomics is a mass spectrometry-based toolkit used to analyze and quantify entire proteins contained in whole cells, tissues or organisms. It has become an increasingly important element in exploring the mechanism of various biological processes such as discovering novel biomarkers and unknown drug targets. Emerging advances in biological mass spectrometry instrumentation and data acquisition methodologies have provided a state-of-the-art platform for protein quantification, prompting the research of proteomics evolving from the simple qualitative to the accurate quantitative approach. This review aims to introduce the most recent advancements in mass spectrometry instrumentation and methodologies of data acquisition, focusing on their characteristics and applying fields. It also highlights several significant applications of biological mass spectrometry in pharmaceutical research such as quantifitation of drug transporters and metabolizing enzymes, and pharmacokinetic study of therapeutic peptides and proteins.