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 effects of aminolevulinic acid-based photodynamic therapy(ALA-PDT) on chicken combs, an animal model for port wine stains (PWS), and to explore the feasibility of PWS treatment with ALA-PDT. Methods A total of 80 leghorns were randomly and equally divided into 10 groups: blank control group receiving no treatment, ALA group treated with ALA alone, four single laser groups irradiated with 630-nm red laser at 75, 100, 150 and 200 J/cm2 respectively, four ALA-PDT groups pretreated with ALA followed by 630-nm red laser radiation at 75, 100, 150 and 200 J/cm2 respectively. An area sized 1 cm × 1 cm were marked at one side of combs in all these leghorns, and served as the experiment area to receive corresponding treatment, with that in the other side as the control area. Tissue specimens were obtained on the 14th and 28th days after treatment followed by the observation of morphological and histological changes, calculation of decrement rate in capillary number, and determination of apoptosis index in vascular endothelial cells (VECs) in chicken combs. Results In all the four ALA-PDT groups, the combs became lighter in color with apoptosis of some VECs as well as a decrease in capillary count and diameter in the dermis of the experiment areas. The decrement rate in capillary number was 33.53% ± 4.89%, 52.02% ± 2.77%, 67.48% ± 5.58%and 88.96% ± 2.47% respectively, and apoptosis index in VECs was 63.44 ± 1.09, 88.50 ± 6.11, 94.32 ± 3.67 and 113.76 ± 10.57 respectively, in the 75-, 100-, 150- and 200-J/cm2 ALA-PDT groups on the 14th day after treatment, and both the decrement rate and apoptosis index in each of these groups were significantly different from those in the blank control group, ALA group, single laser groups receiving red laser radiation at the corresponding dose, and the other ALA-PDT groups (all P < 0.01)separately. The apoptosis depth of VECs, defined as the vertical distance from the basal layer to the deepest level at which VEC apoptosis occurred, was 201.19 ± 0.33 μm, 266.15 ± 1.02 μm, 546.09 ± 2.45 μm and 766.37 ± 1.08 μm respectively in the 75-, 100-, 150- and 200-J/cm2 ALA-PDT groups on the 14th day, with significant differences between these four groups (all P < 0.01). Conclusions ALA-PDT can markedly damage capillaries in the animal model of port wine stains, chicken combs, with the degree and depth of capillary damage associated with red light energy density. The induction of VEC apoptosis may be an action mechanism of ALA-PDT in the treatment of PWS.

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 .

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.

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.

Velpatasvir is a new generation of NS5A inhibitors, and combined with marketed sofosbuvir, compound tablets Epclusa was obtained and approved by FDA in June, 2016, which is used for the treatment of adult patients infected with chronic hepatitis C vi-rus ( HCV) with all genotypes. The mechanism of action, pharmacodynamics, pharmacokinetics, clinical trials and safety of Epclusa were reviewed in this article.