Prader-Willi syndrome is a rare genetic disorder characterized by hypotonia,poor feeding in infancy,hyperphagia with evolving obesity,hypogonadism,decreased adult height,and cognitive and behavioral disabilities.Recombinant human growth hormone (rhGH) has been used in treating Prader-Willi syndrome,and it has achieved good results.Several aspects still need to be concerned,including evaluation before rhGH treatment,age at treatment initiation,dosing,monitoring of potential side effects,tolerability,endpoint,response evaluation,use of adjunct therapies,and issues of consent.

Adolescent ; Atherosclerosis ; drug therapy ; etiology ; prevention & control ; therapy ; Child ; Humans ; Hyperlipidemias ; complications ; prevention & control ; therapy ; Hypolipidemic Agents ; therapeutic use ; Life Style ; Obesity ; complications ; prevention & control ; Primary Prevention ; Risk Factors

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the lack of expression of genes associated with the 15q11.2-q13 region of the paternal chromosome.There are three main types of genetic mechanisms, deletion of the paternal critical region, maternal uniparental disomy and imprinting center defect.Genetic counseling can be carried out based on different genetic mechanisms of PWS, both re-fertility assessments and prenatal diagnoses were performed on couples whose children have already had the disease.The pathogeny and mechanism of PWS are complex.The rapid development of molecular genetics and related research have provided a basis for further understanding of this disease.In this paper, the advances in the genetics of PWS were reviewed.

Objective To investigate the indications to use a temporary pacemaker for bifascicular block in perioperative period.Methods The treatment for 40 patients with heart bifascicular block and a special case were retrospectively studied.All cases,according to their disease history,clinical symptoms,physical ability and atrio-ventricular conduction ability,were divided into two groups:P group(prophylactic insertion of a temporary pacemaker) and N group(without inserting a pacemaker).During operation,we observed whether atrio-ventricular block occurs,the performance of pacemaker and atropine's therapeutic efficacy to bradycardia.Results Anesthesia was postponed in one case because of acute left bundle branch block(LBBB) and the patient died with severe myocardium damage soon after failed resuscitation.All other cases went through anesthesia and operation smoothly.Bradycardia and hypotension could be relieved somewhat by medication in operation,and no complete atrio-ventricular block developed.Conclusion There is no need inserting a temporary pacemaker for chronic bifascicular block if asymptomatic and no atrio-ventricular block.Transesophageal atrial pacing is an easy way to evaluate in quantification atrio-ventricular conduction ability.

Objective:To observe the effect of calcitonin gene-related peptide (CGRP) on the expression of osteoprotegerin (OPG) and receptor activator of nuclear factor-kappaB ligand (RANKL) in osteoblast cells through an in vitro breast cancer cell and osteoblast cell co-culture system. Methods:The metastatic breast cancer MDA-MB-231 or MDA-MB-435 cells were co-cultured with osteoblast MG63 cells to establish an in vitro microenvironment of bone metastasis of breast cancer. After treated with CGRP(1?108 mol/L),OPG and RANKL mRNA and protein expressions in osteoblast MG63 cells were examined by RT-PCR and Western blotting. Results:Expression of RANKL in osteoblast MG63 cells was up-regulated at both mRNA and protein levels when osteoblast MG63 cells were co-cultured with breast cancer MDA-MB-231 or MDA-MB-435 cells,while those of OPG in osteoblast MG63 cells were both down-regulated (P

Objective To investigate the influence of lentivirus mediated short hairpin RNA(shRNA)target to human papilloma virus(HPV)16 E6 on invasive ability of cervical cancer Caski cells.Methods Lentivirus was produced after shRNA target to human papilloma virus(HPV)16 E6 and to nonsense was cloned to lentivirus work vector.Infection ratio was assessed by assay of EGFP positive cells of Caski.Total mRNA of E6 was determined by RT-PCR after Caski cells were infected by lentivirus.The change of E6 protein expression was analyzed by Western blot.The invasive ability of Caski cells was assayed employing Transwell.Results The optimal MOI (Multiplicity of infection)of lentivirus to Caski was 2.5.Total mRNA and protein of E6 were decreased (by 70%and 63%)in interfering group compared with control group.The invasive ability of Caski cells also reduced after infected by lentivirus.Conclusion shRNA mediated by lentivirus can inhibit expression of HPV16 E6 and invasive ability of cervical cancer cells.

Objective To evaluate the clinical application and safety of CT-guided transthoracic cutting needle lung biopsy in diagnosing diffuse lung diseases. Methods By using automatic biopsy gun (14 & 16 gauge), CT-guided transthoracic cutting needle lung biopsy was performed in 29 cases with diffuse lung diseases. The samples obtained were sent for pathological and immunohistochemical examination. The sampling successful rate, the diagnostic accuracy and the occurrence of complications were analyzed. Results Technical success rate was 100%, and large size of sample enough for pathological and immunohistochemical examination was obtained in all 29 cases. Definite pathological diagnosis could be made in 25 cases, with the positive diagnostic rate of 82.8%. The main complications included pneumothorax and pulmonary hemorrhage. The symptoms in most cases were not severe and disappeared within one week after the treatment. Conclusion For the diagnosis of diffuse lung diseases, CT-guided transthoracic cutting needle lung biopsy is a safe, easy, effective and reliable method with high successful rate, high diagnostic value and fewer complications, in these respects this technique is superior to transbronchial lung biopsy, open lung biopsy and video-assisted thoracoscopic lung biopsy. Therefore, this technique should be popularized in clinical practice.

Objective To look for and confirm the downstream regulated gene of microRNA (miRNA)-148a in pancreatic cancer cell line.Methods The target gene regulated by miRNA-148a was predicted through bio-informatics analysis.The plasmid containing desired gene and with luciferase 3'-untranslated region (3'-UTR) reporter was constructed.Pancreatic cancer cells BXPC-3 were transfected with analogs and inhibitors of miRNA-148a by liposomes.The activity of luciferase was measured to determine whether miRNA-148a directly connected with desired gene.The expression level of miRNA-148a was changed in BXPC-3 cells,and the changes of target gene v-verb-b2 erythroblastic leukemia viral oncogene homolog 3 (awian) (ErbB3) expression were detected by Western blot at protein level.The data were analyzed by one way ANOVA.Results There was a conservative binding site of ErbB3 with miRNA-148a detected by bio-informatics analysis,miRNA-148a directly combined with ErbB3 and the activity of luciferase decreased to (25.00+47.00) ％ of the negative control (F=4.66,P＜ 0.01).After miRNA-148a overexpression,the gray value of ErbB3 expression in BXPC-3 cells decreased to (26.16±4.69)％ of control group (F=6.563,P＜0.05).Conclusion miRNA-148a directly targeted and regulated the expression of ErbB3 in pancreatic cancer cell line BXPC-3.

Objective To evaluate the clinical effects of platelet-rich plasma in treatment of DeepⅡburn wounds. Methods Sixty eight cases of inpatients with Deep Ⅱburns were selected, whose age were from 1 to 65 years and their burn areas were between 5%~62%of total body surface area (TBSA). Deep gradeⅡburn of each sample was divided into two parts. Part A was the treatment group and part B was the control group.The burn wounds in the treatment group were treated with platelet-rich plasma and the counterpart in the control group were treated with SD-Ag. Healing time ,recovering rate and the frequency of dressing changes,frequency of changing the most innerlayer gauze and the rate of wound infection were also analyzed. Finally the laboratory abnormalities and adverse effect were monitored regularly. Results The healing time of the treatment group (16.5±3.1 ) d was shorter than that of the control group (19.5±3.8 ) d. The recovering rate of the treatment group was higher than that of the control group on the 14th and 17th day after treatment. There were statistically sig?nificant differences between these two groups (P<0.05). After two weeks’treatment, the internal and external dressing per?meability into wet gauze layers were 20.6 ± 1.7, which were significantly decreased than that in the control group 23.3 ± 5.9. The frequency of dressing changes was(7.2±1.1)times in treatment group versus(9.2±1.4)times in control group and the frequency of changing the inner most layer gauze was( 2.3±0.6)times in the treatment group versus(5.3±1.3)times in con?trol group. There were 5 inflammation reaction cases in the treatment group, but 13 cases in the control group. However, there was no statistic significance between the two group in the outcomes of bacterial culture, the laboratory abnormalities and the adverse effect. Conclusion Platelet-rich plasma can remarkably shorten the healing time,improve healing rate,re?duce frequency of dressing change and promote wound healing for deepⅡburn wound. PRP is a potential safety reagent in treating deepⅡburn wound.

Objective:To analyze the correlation between the glycosylated hemoglobin and immunologic function in patients with type 2 diabetes.Methods:Clinical data of patients with type 2 diabetes received treatment at our hospital from 2011 to 2014 was analyzed (Group A) and also included the healthy control as Group B.Results:A total of 75 patients were analyzed,Group A 45 cases and Group B 30 cases.Group A had a higher level of glycosylated hemoglobin than that of Group B , the difference was statistically significant(8.12±3.45 vs 4.87±1.65;t=4.472,P<0.001).Group A patients had lower levels of IgA,IgM and CD4/CD8 when compared with Group B ,the difference was statistically significant ( P<0.05 ).Correlation analysis shown the glycosylated hemoglobin had significantly negative correlation with IgA ,IgM and CD4/CD8 ( P<0.05 ).Conclusion: Patients with type 2 diabetes have a low immune function which are related to high level of Glycosylated hemoglobin.