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

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 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.

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.

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 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.

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 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.

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.