Deletions,insertions,duplications,and complex multi-site variants,now formally termed copy number variations(CNVs),are regions larger than 1 kb that are present with variable copy numbers in comparison with the reference genome.CNVs in humans and other mammals are associated with a series of complex genetic diseases including congenital heart disease.The studies of CNVs have become hot topics.This review mainly discusses the principle of CNVs,the detection techniques and CNVs in the pathogenesis of congenital heart

The BRAFV600E mutation in papillary thyroid carcinoma is the most common genetic event,which is an invasive tumor clinical phenotype and a poor prognosis indicator.The BRAFV600E mutation detection has an important guiding significance for the differential diagnosis of malignant thyroid nodules on preoperative,guiding the surgical resection range of thyroid cancer,judging the patient(s) prognosis and guiding the subsequent treatment of postoperative.

Objective To discuss the ultrasound diagnosis on the apophysis lesions of the gallbladder. Methods A retrospective analysis was made in 51 cases of polypoid lesions of gallbladder ultrasound char-acteristics of cases, clinical symptoms and pathological types. Results There were 43 cases of benign le-sious (39 cases of cholesterol polyp, 3 cases of adenomyosis, 1 case of inflammatory polyps), 8 cases of tumor lesions (5 cases of adenomatous polyp, 3 cases of malignant tumors). Among those patients with out clinical symptoms (n = 32) were for cholesterol polyps (P < 0. 05) while in, with symptomatic patients (21 cases), 8 were complicated with stone, 4 with ulcerative disease. Three cases (100%) with adenomyosis and 4 cases (80%) with adenomatous polyposis shouwed symptoms (P < 0. 05). Patients with multiple pol-ypoid lesions (22 cases), were benign lesions, and 95.5% were pathologlicdly cholesterol polyp. Seven ca-ses of ultrasound diagnosis of gallbladder polyps were pathologically diagnosed having polyp diameter smaller than 0.3 cm. Ultrasound showed gallbladder wall thickening in 6 cases, 3 with adenomyosis (wall thickness 0. 5 - 1.8 cm), 3 with malignant lesions in gallbladder (wall thickness 0. 5 - 1.2 cm). Conclusions For those patients ultrasound showed asymptomatic or multiple polyps of the gallbladder, cholesterol polyps are the most common type of lesion. Ultrasound is not sensitive to polypoid lesions of the gallbladder with diame-ter less than 0. 3 cm. Those with limited ultrasonic gallbladder wall thickening (>0. 5 cm) should pay more attention to the possibility of having malignant tumors and adenomyosis.

15 cases of malignant tumours of gastrointestinal tract and ovary were treated by chemotherapy through intraperitoneal puncture and perfusion under B-ultrasound guidance.The results were satisfactory.The success rate of intraperitoneal puncture under B-ultrasound guidance was 100%.The method is introduced in detail and the advantage of the application of B-ultrasound guid-ance was discussed.The authors considered that it is safe,reliable,less in complication,easy to oper-ate:less in agopy and easy to be used clinically.

Objective To observe the effects of combined spinal-epidural anesthesia (CSEA) with small dose of ropivacaine on the circulatory and respiratory function in aged patients undergoing hip arthroplasty surgery.Methods Forty ASA Ⅱ or Ⅲ patients were randomly divided into two groups,20 cases in each group.In group A,0.25％ ropivacaine 5-7mg was given for spinal block and 0.25％ ropivacaine for epidural block.Patients in group B were given 0.5 ％ bupivacaine 8-10mg and 0.375％ bupivacaine,respectively.The anesthetic efficacy,BP,HR,SpO2,Bromage score were recorded.Results The analgesic plane was T8-T10 in group A,and that was T6-T8 in group B.The changes of BP,HR,SpO2 in group A were less than those in group B.Bromage scores of group A were 1-2 for nonoperative extremity and 0-1 for the operative extremity,which were 3-4 for two extremities in group B.Conclusion The CSEA with 0.25％ ropivacaine 5-7mg for spinal block and 0.25％ ropivacaine for epidual block is suitable for patients undergoing hip arthroplasty surgery.

Gastrointestinal motility disorders are in high incidence in children.Due to moderate prokinetic effects,poor symptomatic responses and the presence of adverse effects,there is a clear need for new classes of prokinetics.Currently available drug classes in adult include antidopami-nergic agents,serotonergic agents,and motilin-receptor while there are less available drug classes in children.The aim of the present article is to review and address the present use of promotility drugs in the treatment of different gastrointestinal motor disorders,as well as the potential for future developments.

Objective To explore the effects of tamoxifen on the proliferation of SHG-44 glioma cells and the currents of sodium channel. Methods The cell activity was detected by MTT. The alteration of cellular proliferation and apoptosis were dectected by flow cytometer. Whole-cell patch clamp technique was used to record the Na currents.Results After treatment with tamoxifen,the cells began aging and shedding and cell counting decreased.The cells in G2/M cell cycle were more than that in control and the apoptosis ration increased. Tamoxifen significantly decreased the amplitude of Na currents of SHG-44 cell line.This blocking effect was dose-dependent and voltage-dependent.When the holding potential was 0 mV, 8 ?mol/L tamoxifen could block this currents by 69%.The half inhibition concentration(IC50) was 5.54 ?mol/L. Conclusion Tamoxifen can inhibit SHG-44 glioma cells proliferation.The inhibion of sodium channel may be one of its mechanisms.

Objective To prospectively assess the association between cardiac resynchronization therapy (CRT )and left atrial volume .Methods Fourteen patients with chronic heart failure ,sinus rhythm and left bundle branch block were enrolled in this study and prepared for CRT implantation .Clinical and echocardiographic evaluations were performed before CRT implantation and 6 months later .Followings were parameters of the left atrial and left ventricular volume:left ventricular end-systolic volume index (LVESVi)and end-diastolic volume index(LVEDVi) ,maximal LAV index(iLAVmax) ,etc ,LAV index before atrial systole(iL-AVpre)and minimal LAV(iLAVmin) .CRT responders were defined as those whose reduction rates were more than 10% in iL-VESV in 6-month follow-up .Results Responders(71 .4% )and non-responders(28 .6% )had similar baseline ,clinical characteristics and pre-implantation LV volumes .However ,iLAVmax in the responders was remarkably lower than that in non-responders .CRT therapy significantly reduced LVESVi(P<0 .01) ,LVEDVi(P<0 .001) ,iLAVmax(P=0 .004) ,iLAVpre(P=0 .003)and iLAVpost (P<0 .01) ,but when compared with the non-responders ,iLAVmax was much lower in responders .Correlation analysis showed that there was a significant correlation of LVEDVi with iLAVmax ,iLAVpost(P<0 .05) .Conclusion CRT therapy can significant-ly improve iLAVpre and iLAVmax may be a predictor of LV reverse remodeling .

Objective To investigate the effects of distraction on tourniquet pain in healthy subjects .Methods Tourniquet pain was induced by the tourniquet at continuous pressure of 200 mm Hg for 10 min .20 healthy college students were asked to perform two distraction tasks during the pressure ,one of which is pictorial dot-probe task with three kinds of emotional pictures ,the other is word dot-probe task with five kinds of pain-related words ,and a control task ,in which no distraction task was performed .The pain intensity ,pain distress were recorded by Visual Rating Scale(VRS)and Modified McGill Pain Questionnaire short-form(MPQ-SF) . Results Compared with the control task[(4 .1 ± 1 .8) ,(4 .0 ± 1 .8)] ,the pain intensity and distress were significant lower in picture [(3 .1 ± 1 .3) ,(3 .0 ± 1 .2)]and word[(3 .3 ± 1 .4) ,(3 .4 ± 1 .5)] distraction tasks[(F(2 ,8)=21 .424 ,P<0 .001;F(2 ,8)=17 .962 ,P<0 .001)] .The pain distress in word distraction task (3 .4 ± 1 .5) was higher than that in the pictorial distraction task (3 .0 ± 1 .2) (P<0 .05) .Meanwhile ,for the last four minutes ,the pain intensity was significant lower in pictorial distraction task compared with the control task(P<0 .05) .And at the beginning of the experiment ,the pain distress was significant lower in pictorial[(2 .3 ± 0 .7) , (2 .5 ± 0 .8)]and word[(2 .4 ± 0 .8) ,(2 .9 ± 0 .9)] distraction task compared with the control task [(3 .7 ± 1 .3) ,(4 .0 ± 1 .4)](P<0 .05) .Compared with the control task (5 .0 ± 1 .6) ,the present pain index (PPI) was significant lower in the pictorial distraction task(3 .5 ± 1 .4)(F=5 .097 ,P<0 .05) .Conclusion The tourniquet pain was attenuated by distraction of cognitive tasks in pain in-tensity and pain distress .