OBJECTIVE:To evaluate evidence foundation of phamracogenetics personalized medication,and to provide refer-ence for clinical application. METHODS:Using“phamracogenetics”“pharmacogenomics”and“gene polymorphism”as key words,related literatures and clinical guideline were retrieved from PubMed,CNKI,Wanfang database,and analyzed in respects of involved gene,site and drug types,etc. Evidences of package inserts of phamracogenetics biomarker were evaluated by using phamracogenetics practice and prevention evaluation guideline. RESULTS:8 276 papers,25 guidelines and 166 drug package in-serts are available for analysis. The phamracogenetics literatures mostly focus on the relationship between some one gene and differ-ent drugs. In guidelines,some one specific gene can guide clinical application of multiple drugs in different fields. In drug package inserts,general level of clinical evidence is not high;detectable biomarkers is inadequate in category,and detection rate is only 38.06% besides targeting preparation. CONCLUSIONS:Under the condition of low clinical evidence level the detection of pharma-cogenetics biomarker should be conducted carefully,and basic study should be further strengthened.

Objective:To study the mechanism of moxibustion therapy on diabetic peripheral neuropathy for the peripheral neuroprotection.Methods:The DPN model was induced by intraperitoneal injection with streptozotocin (STZ).The rats were given moxibustion at the acupoint Yishu (Extra) and the acupoint Zusanli (ST 36).The treatment was carried out once a day and 15 minutes per acupoint,lasting for 56 d in total.The clinical effect of moxibustion was evaluated by detecting blood sugar,urine sugar,body weight and dietary intakes,as well as nerve conduction velocity with neuroelectrophysiological method.The structure variation of sciatic nerve was observed by HE staining and light microscopy,and the level of NGF in the sciatic nerve Was determined by ELISA.Results:Compared with the model group,the plasma glucose was significantly lower in the moxibustion group (P＜0.01),with significantly faster nerve conduction velocity (P＜0.01),more notably changes in pathological appearance (P＜0.01) and higher level of nerve growth factor (NGF)(P＜0.01).Conclusion:Moxibustion could improve the symptom and signs of peripheral neuropathy in rat models with DPN,which may relate to the increased NGF and enhanced peripheral nerve protection.

Objective To compare the diagnostic performance of multi-contrast atherosclerosis characterization (MATCH) and magnetization-prepared rapid acquisition gradient-echo (MPRAGE) for the detection of IPH with histologic analysis as the reference standard.Methods Thirty individuals were collected in this study.They were diagnosed to have carotid stenosis＞50％ by ultrasound and scheduled for carotid endarterectomy from 2014 to 2015.3 T carotid MR examinations using MPRAGE,MATCH and 3D TOF were performed in these patients.Axial images covered all plaques and centered at the bifurcation of the carotid artery.All image data sets were processed on a semi-automatic software (MRI-Plaque View,VPDiagnostics,US) to analyze the component of IPH for vulnerable plaques.The consistency between MATCH and MPRAGE was analyzed by using Cohen Kappa analysis.Comparison of the two sequences to the pathological results was performed in a similar manner.The sensitivity and specificity of the two sequences were obtained.The SNR,CNR and contrast ratio(CR) of the two regions of interest were calculated and Wilcoxon rank sum test was used to compare the difference between the two methods.Results Among 30 patients,a total of 602 available sections and 95 correponding histology specimens were included in the analysis.When all 602 available sections were included in the analysis,MATCH yielded good agreement with MPRAGE(Kappa=0.773) on the detection of IPH.With pathological specimens as the gold standard,moderate to good agreement was shown for both MATCH and MPRAGE (Kappa=0.778,0.685).The sensitivity and specificity for the detection of IPH was 93.2％ (68/73) and 90.9％ (20/22) for MATCH.For MPRAGE,the sensitivity and specificity was 87.7％(64/73) and 90.9％(20/22) respectively.The difference between MATCH and MPRAGE was statistically significant for SNR,CNR and CR.That is to say,SNR and CNR of MPRAGE were higher than those of MATCH(P＜0.05),while CR of MATCH was higher than that of MPRAGE(P＜0.05).Conclusion Compared to the MPRAGE sequence,MATCH technique demonstrates similar diagnostic performance for the detection of IPH.

Objective To investigate the diagnostic performance of stress cardiac magnetic resonance(CMR) for evaluating low-risk patients with suspected acute coronary syndrome(ACS).Methods Twenty-two patients with low risk of suspected ACS were prospectively and consecutively enrolled in this study.Diagnostic performance of stress CMR was compared with single-photon emission computed tomography(SPECT) for diagnosis of myocardial ischemia with coronary angiography (CAG) as the reference method.Results On the patient-based level analysis,the diagnostic performance of CMR for detection of ACS was sensitivity 93% and specificity 75%.The corresponding value of SPECT was 79%,63%.The area under the ROC (AUC) of CMR was 0.897, which was slightly superior to that of SPECT at 0.723 (P=0.19).On the per-vessel assessment, the diagnostic value of CMR was sensitivity 89%,specificity 87%, while the corresponding value of SPECT was 68%,83%.The AUC of CMR was 0.923,which was significantly higher than that of SPECT at 0.774 (P<0.05).Furthermore, the AUC of CMR was significantly superior to that of SPECT with AUC being 0.900 and 0.553 in the left anterior descending (LAD) vessels (P=0.009 6).Conclusion Stress perfusion CMR has excellent diagnostic performance in low risk ACS patients.Compared with SPECT,stress perfusion CMR performed better in the low-risk ACS populations.

AIM: To obverse the expression and localization of urocortin on ultrathin cryosections of syncytiotrophoblast of human term placenta with immunocytochemistry technique under transmission electron microscope. METHODS: The human term placenta tissue from Cesarean delivery and normal labor were fixed in 4% paraformaldehyde, and then divided into two parts. One part was for regular immunocytochemistry under microscope, and the other part was used to prepare ultrathin cryosections for immunocytochemistry under transmission electron microscope. RESULTS: 1.Uroncortin mainly distributed in cytoplasm of syncytiotrophoblast of human term placenta under microscope. Urocortin also appeared in cytoplasm in some stromal cells. 2. Under transmission electron microscope, the anti-urocortin gold particles were observed in cytoplasm of syncytioptrophoblast ultrathin cryosections and sited on rough-surfaced endoplasmic reticulum. The anti-urocortin gold particles also appeared on nucleus and nuclear membrane of syncytiotrophoblast. CONCLUSION: Syncytiotrophoblast of human term placenta synthesized and secreted urocortin. The internalization of urocortin within syncytiotrophoblast nuclear indicates that urocortin may act as intracrine.

ObjectiveAnalyzing the left atrium and pulmonary vein morphologicallv by 64 multislice spiral CT(MSCT)scan to guide the catheter ablation of Atrial fibrillation.MethodsTwo hundred and thirty-two patients(146 cases in atrial fibrillation group and 86 cases in control group)received 64 MSCT examination of the left atrium and pulmonary vein.The incidence of anatomical variation of pulmonary vein was compared between atrial fibrillation group and control group. For each group,the anatomical morphology ot every pulmonary vein and the auricle of left atrium was analyzed, the diameter of the orifice of each pulmonary vein and the size of left atrium were measured.ResultsSixty-four MSCT of left atrium and pulmonary vein could demonstrate detailed connecting type between left atrium and pulmonary Veins and the possible anatomieal variation. Anatomical variation of pulmonary vein in this study accounted for 16.8% (39/232)of total sample. For both groups,orifices of pulmonary veins appeared oval and their superoinferior diameters were larger than their anteroposterior diameters. There was significant difference in the inner diameter of left atrium between atrial fibrillation group and control group[atrial fibrillation group:(39.47±8.98)mm,control group:(36.94 ±5.49)mm,P=0.02],while there was no difference in the diameters of orifices ot puhnonary veins between two groups [ superoinferior diameters of pulmonary veins in atrial fibrillation group:left-up(18.15±1.35)mm,left-down(16.96 ±1.18)mm,right-up(17.50±

Objective To explore the clinical application value of left atrial function with feature tracking cardiac magnetic resonance imaging (FT-CMR) by evaluating preliminarily left atrial strain and strain rate in patients with atrial fibrillation. Methods Thirty patients with paroxysmal atrial fibrillation, thirty patients with persistent atrial fibrillation and twenty-two healthy subjects were enrolled. All the subjects underwent cardiac magnetic resonance imaging with the real steady-state free precession(SSFP) sequence. FT-CMR parameters included left atrial strain and strain rate parameters, left atrial volume and function parameters were detected by using offline cardiovascular analysis software, respectively. Left atrial strain and strain rate parameters included left atrial total strain(Εs), passive strain(Εe), active strain(Εa), peak positive strain rate(SRs), peak early negative strain rate(SRe)and peak late negative strain rate(SRa). Volume and function parameters included maximum of left atrial volume(LAVmax), minimum of left atrial volume(LAVmin), total left atrial emptying fraction(LATEF), passive left atrial emptying fraction(LAPEF)and active left atrial emptying fraction(LAAEF). The differences in the general data among the paroxysmal atrial fibrillation group, the persistent atrial fibrillation group and the control group were compared by usingχ2 test or ANOVA analysis. The differences in all parameters between the atrial fibrillation group and the control group, the paroxysmal atrial fibrillation group and the persistent atrial fibrillation group were compared by using independent t test. Left atrial strain and strain rate parameters on an intra-observer and inter-observer were determined by intraclass correlation coefficient(ICC)analyses. Results Compared to control group, LAVmax and LAVmin in atrial fibrillation group were significantly increased(t=9.737,7.889,P<0.001);The LATEF and LAPEF had no significant difference, the LAAEF in two groups had statistically significant difference(t=-4.762,P<0.001).The absolute value of Es, Ee, Ea, SRs, SRe, SRa in atrial fibrillation group were significantly reduced than in control group(t=-7.732,-6.610,-6.493,-7.546, 6.864, 5.917,P<0.001). Compared with paroxysmal atrial fibrillation group, LAVmax and LAVmin in persistent atrial fibrillation group were increased obviously, LATEF and LAPEF were significantly decreased, and the differences were statistically significant(t=-4.575,-5.524, 4.002, 4.028,P<0.001).The LAAEF in two groups had no statistically significant difference. Compared with strain and strain rate in two groups, absolute value of Es, Ee, Ea, SRs, SRe, SRa in persistent atrial fibrillation group significantly decreased than in paroxysmal atrial fibrillation(t=4.310, 3.128, 4.465, 5.496,-3.290,-3.863,P<0.001). The intra-group and inter-group had well correlation coefficients between the observers in the left atrial strain and strain rate parameters of the subjects(ICC=0.85—0.94,0.81—0.90). Conclusions FT-CMR technique can be used to assess the left atrial strain and strain rate in patients with atrial fibrillation;Left atrial reservoir, conduit and booster-pump functions in patients with atrial fibrillation were impaired. Patients with persistent atrial fibrillation had worse left atrial function throughout the entire cardiac cycle compared with those with paroxysmal atrial fibrillation.

Objective To explore the clinical effect of color Doppler ultrasound guided small incision in repairing penile fracture.Methods Sixteen cases of penile fracture single cavernosum rupture adopted the preoperative positioning by color Doppler ultrasound,hematoma removal and albuginea repair.The clinical effect was evaluated after operation.Results The albuginea rupture was smoothly found in 15 cases,1 case was converted to coronary sulcus annular degloving incision.The operation time was 20-60 min with a mean of 35 min;the postoperative hospital stay was 3.0-6.0 d with a mean of 4.8 d;the catheter removal was on postoperative 3-5 d,urination was unobstructed.Follow up lasted for 6-12 months,1 case appeared transient erectile dysfunction,the harden was touched during erection in 1 case,and other cases had no obvious complication occurrence.Conclusion The color Doppler ultrasound can locate the rupture of corpora cavernosa penis and albuginea.Selecting color Doppler ultrasound guided small incision in repairing penile fracture has small trauma and less complications,and can get satisfactory effect.

We reported a female fetus diagnosed with X-linked dominant chondrodysplasia punctata 2 with severe phenotype. The fetus was found with abnormal short limbs, thick metaphysis on the right lower limb and a narrow and small thorax by prenatal ultrasound at 24+5 weeks of gestation. Non-invasive prenatal test indicated the risks of trisomies 21, 18 and 13 were low. The pregnancy was terminated at 27 weeks of gestation and postnatal X-ray imaging showed that the fetus had short femur and humerus, a narrow and small thorax, thickened metaphysis with a "splashed paint spot" pattern, and asymmetric shortened lower limbs. Whole-exome analysis showed that the fetus carried a heterozygous pathogenic mutation c.440G>A (p.Arg147His) in the EBP gene. The mutation was confirmed to be a de novo mutation as neither of her parents carried the same mutation. Thus, the patient was diagnosed as having X-linked dominant chondrodysplasia punctata 2. The severe phenotype of this case migh be related to random X chromosome inactivation.