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.

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.

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

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 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 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 establish hyperoxia retinopathy in premature rat model with SpragueDawley (SD),observe the pathological changes of angiogenesis and expression of vascular endothelial growth factor (VEGF),and compare the effect of bevacizumab periocular injection and intravitreal injection of retinopathy of premature rats.Methods Ninety preterm rat retinopathy models were randomly divided into 3 groups:high oxygen group,retrobalbar injection group,and vitreous cavity group (n =30 per group);36 healthy rats were chosen as the normal control group.Each group were randomly selected 10 rats 'right eyes to make retinal flat mount to observe the right eye retina vascular morphology;10 resections of right eyes were embedded in paraffin,and stained with hematoxylin eosin (HE);the number of right eye of retinal neovascularization was observed;the right eye RNA was extracted,and reverse-transcription polymerase chain reaction (RT-PCR) was used to detect the expression of VEGF.Results The normal group showed retinal vessels were around a reflection of distribution,good branch,shape rules,and clear structure.Intravitreous neovascularization occurred in the high oxygen group and peribulbar injection group.Retinal vascular endothelial cells in the high oxygen group were increased significantly compared to the normal group (P ＜ 0.05).The visible clusters of red blood cells in the periocular injection group and vitreous group were decreased compared to the high oxygen group (P ＜ 0.05),but no significant difference between the periocular injection group and vitreous group (P ＞ 0.05).The expressions of VEGF mRNA and HE staining had a consistent trend.Conclusions Bevacizumab inhibited the expression of VEGF that was increased in premature rats in hyperoxia retinopathy.The effects of bevacizumab periocular injection and intravitreal injection were similar,but the former was more secure than the latter.

Objective To investigate the effects of dipeptidyl peptidase 4(DPP-4) inhibitor on serum adiponectin (APN) and high sensitivity C-reactive protein (hs-CRP) in patients with type 2 diabetes mellitus.Methods 45 cases were type 2 diabetes were collected from department of endocrinology,wuxi second People's hospital of jiangsu province from January 2015 to April 2015.45 patients with type 2 diabetes mellitus were randomly divided into treatment group (n=23) and control group (n =22) , treatment group was treated with metformin combined with DPP-4 inhibitor and control group was treated without DPP-4 inhibitor.Before and after treatment,fasting plsma glucose(FPG),postprandial 2h glucose(2hPG),adiponectin, hs-CRP and homeostasis model assessment for insulin resistance(HOMA-IR) were measured.Results Adiponectin was significantly higher in treatment group than before(P<0.05),FPG,2hPG,hs-CRP and HOMA-IR were significantly lower than before(P<0.05).Adiponectin in treatment group was significantly higher than control group post-treatment(P<0.05).2hPG,hs-CRP and HOMA-IR in treatment group were siginificantly lower than control group post-treatment (P<0.05).Conclusion DPP-4 inhibitor could improve insulin resistance in type 2 diabetes mellitus by increasing serum adiponectin and decreasing serum Hs-CRP and HOMA-IR.

Objective To determine the prevalence and clinical features of peripancreatic vascular abnormalities in patients with pancreatitis.Methods The clinical data of 102 pancreatitis patients between January 2013 to December 2014 in the General Hospital of Shenyang Military Command who underwent contrast enhanced CT or contrast enhanced MRI scans were retrospectively analyzed.The radiological features of peripancreatic vascular abnormalities in such patients were examined, and the clinical features of pancreatitis patients with or without peripancreatic vascular abnormalities were investigated.Results Peripancreatic vascular abnormalities were found in 18 patients(17.6%), and vascular abnormalities were relatively common in portal vessels.No significant differences were observed on the age at onset, gender ratio, smoking status, alcohol consumption and length of stay between patients with and without peripancreatic vascular abnormalities.Compared with those without peripancreatic vascular abnormalities, patients with peripancreatic vascular abnormalities had a significantly higher incidence of peripancreatic fluid collection, pancreatic pseudocyst and gastric varices, and the differences were statistically significant(all P<0.05).Conclusions Peripancreatic vascular abnormalities can be complicated with pancreatitis.Enhanced CT or enhanced MRI were valuable in the diagnosis.Pancreatic pseudocyst, peripancreatic fluid collection and gastric varices were more common in pancreatitis complicated with peripancreatic vascular abnormalities.