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

Objective To investigate the clinical efficacy of acupoint catgut embedding in treating patients with early-stage type 2 diabetes.Methods Two hundred and forty patients with early-stage type 2 diabetes were randomly allocated to treatment and control groups, 120 cases each. The control group received diet control and kinesitherapy and the treatment group, acupoint catgut embedding in addition. Fasting plasma glucose (FPG), 2-h postprandial blood glucose (2hPG), glycosylated hemoglobin (GHB) and body mass index (BMI) were measured in the two groups before and after treatment and the clinical therapeutic effects were compared between the two groups.Results There were statistically significant post-treatment differences in FPG, 2hPG and GHB between the two groups (P<0.05). There was a significant difference in comparing FPG and GHB between the two groups after intervention (P<0.05).The total efficacy rate was 98.3% in the treatment group and 85.0% in the control group; there was a statistically significant difference between the two groups (P<0.05).Conclusions Acupoint catgut embedding can improve glucose tolerance and reduce the incidence of diabetes in patients with early-stage type 2 diabetes.

As introduced in the paper, the average days of stay of clinical department were calculated as a management target, in view of the complexity of disease and case mix index. This method could avoid the deficiency of traditional methods and make the management of average length of stay of clinical department more conforming to the actual situation, and also more scientific and reasonable.

Epidemiological studies reveal that prenatal adverse environment could cause lower birthweight in offspring and increase the susceptibility to multiple chronic diseases (e.g. metabolic and neuropsychiatric diseases etc.) after maturity. However, the underlying mechanism remains unclarified. The hypothalamic-pituitary-adrenal (HPA) axis is a key neuroendocrine axis playing pivotal roles in systemic stress responses before and after birth. It is also an important but vulnerable fetal targeting organ. Previous studies showed that many environmental insults during pregnancy, including external environment and maternal health condition, could affect fetal development in multi-ways via maternal-placental-fetal unit, which leads to the intrauterine programming alteration of HPA axis and the in?creased susceptibility to chronic diseases in adulthood. This article reviews the latest global advances in the etiology of increased susceptibility to adult diseases induced by compromised prenatal environ?ment and the associated intrauterine programming mechanisms by incorporating our recent research findings, and proposes that the fetal over-exposure to maternal glucocorticoids (GC) could bring about the intrauterine neuroendocrine metabolic programming alteration in offspring:the core is the program?ming of GC-insulin-like growth factor 1 axis in multiple organs, and the abnormal epigenetic modification is involved in this programming.

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 .

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.

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.