Objective To investigate serum total prostate special antigen(tPSA),complexed prostate special antigen(cPSA)and cPSA/tPSA ratio(C/T) in the differential diagnosis of benign prostate hyperplasia(BPH)and prostate cancer(PCa).Methods A total of 184 serum samples from hospital outpatient and inpatient were collected from May 2009 to December 2015,and which were divided into three groups including other diseases 68 patients,benign prostate hyperplasia(BPH group)80 patients,prostate cancer (PCa group)36 patients.Chemiluminescence immunoassay was used to detect the concentration of tPSA and cPSA,and the C/T ratio were calculated in the study.Results The tPSA,ePSA levels and C/T ratio were significant different from patients with PCa,BPH and other diseases group(P＜0.01).Compared with BPH group(r=0.661),the tPSA and cPSA levels have a higher relativity in PCa group(cPSA=0.708 × tPSA-0.219,r=0.956).While when tPSA level ranges 4.0-10.0 ng/mL),no significant difference of tPSA,cPSA levels and C/T ratio were found in these 3 groups(P＞0.05).Conclusion Combined detection of serum tPSA,cPSA and C/T,making importance in the differential diagnosis of BPH and PCa.

The promyelocytic leukemia (PML) protein is an important part of the PML nuclear bodies (PML-NBs) structure.PML protein is crucial for the assembly of PML-NBs and recruits more than 30 different proteins, including DAXX, ATRX, and small ubiquitin-like molecules involving SUMO to the PML-NBs region.Increased evidence has emerged that a number of different proteins is involved in regulating PML activities by post-translational modifications, such as SUMO modification, ubiquitination and phosphorylation.Here, we review recent studies on the combination of PML and different proteins in the process of apoptosis, replicative senescence and DNA damage response.

Objective To evaluate the differences of α-fetoprotein (AFP), ffeeβ-human chorionic gnnadotropin (HCG) indexes in 3 foreign median databases for antepartum risk screening, and establish the median databases of normal pregnant women in Wenzhou for antepartum screening of AFP, free-β-HCG indexes through the suitable median computational models. Methods The levels of AFP and free β-HCG of 20054 normal pregnant women in Wenzhou were detected by time-resolved fluorometry. The data in this paper were compared with the data of 2T-risk ( 2T), Lifecycle-2. 2 (LC2.2 ) and Lifecycle -3.0 (LC3.0) by double-factor ANOVA. The differences between the data in the paper and the data from Shenyang and Ningbo were analyzed. The median database of Wenzhou pregnant women was established by the suitable regression model, with the stability of nonlinear regression models of the 3 software assessed by model correcting fitting, distribution mean of model fitting logarithmic and standard deviation. Results The levels of AFP and freeβ- hCG reported here were 10% and 16% higher than the data of 2T-risk, 15% and 20% higher than that of LC 2. 2, 6% and 17% higher than that of LC 3.0 respectively. The differences were statistically significant. ( FAFP = 161. 757 ,P < 0. 01 ; Ffree-β-HCG = 58. 261, P < 0.01 ). The levels of AFP and free β- hCG in Wenzhou were 2% higher and 3% lower than that of Shenyang, 1% and 2% higher than that of Ningbo. There was no statistical difference of AFP levels among Wenzhou , Shenyang and Ningbo( FAFP = 0. 174 ,P =0. 840) while the differences of free-β-hCG were statistically significant( F<,free-β-HCG> = 13.303 ,P < 0. 01 ). The differences of quadratic equation regression model, exponent quadratic function regression model and exponent quadru-function regression model of 2T, LC-2. 2 and LC-3.0 were not remarkable. The exponent quadru-function regression model was the best. Conclusions There are significant differences between the data from Wenzhou, Shenyang and Ningbo and the data of T-2 risk, LC-2. 2, LC -3.0. The discrepancy is due to the ethnic and different parameters of regression models. So the model parameters and the median databases are urgently required in China. The differences of large sample size of AFP from Wenzhow, Shengyang and Ningbo are not significant, while the differences of free-β- hCG from Wenzhow, Shengyang and Ningbo is remained because of its instability. The levels from Wenzhow and Ningbo are near. It is suggested that the laboratories with small sample size can establish their own laboratory parameters using the reference obtained from large sample size under the same experimental conditions. There are no significant differences of stability among regression computational models in the 3 software. The exponent quadru-function regression model can be used to establish the median databases for the screening with the similar data distribution in the paper.

Objective To evaluate the feasibility and effectiveness of four closure techniques ,large incision with plastic distal at‐tachment and clip with suction ,1 .1 cm small incision with plastic distal attachment and clip with suction in natural orifice translu‐minal endoscopic surgery(NOTES) .Methods Forty‐one ex vivo porcine stomachs were involved in this research .According to the size of incision and different methods of incision closure ,all ex vivo porcine stomachs were divided into four groups .Group A in‐volved 8 ex vivo porcine stomachs ,their size of incision were 1 .2-2 .0 cm ,and their incisions were closured by a clip closure direct‐ly ;group B involved 10 ex vivo porcine stomachs ,their size of incision were 1 .2-2 .0 cm ,and their incisions were closed by plastic end attachment with suction and clip enclosure technique;group C involved 10 ex vivo porcine stomachs ,their size of incision were smaller than 1 .1 cm ,and their incisions were by a clip closure directly ;group D involved 13 ex vivo porcine stomachs ,their size of incision were smaller than 1 .1 cm ,and closured by plastic end attachment with suction and clip enclosure technique .Stomach leaks were evaluated by leaking studies after the procedure .Results In group A ,1 incision was closed successfully ,7 incisions were clo‐sured unsuccessfully ;in group B ,2 incisions were closed successfully ,8 incisions were closed unsuccessfully ;in group C ,2 incisions were closed successfully ,8 incisions were closured unsuccessfully ;in group D ,11 incisions were closed successfully ,2 incisions were Closured unsuccessfully .Fisher′s exact test showed that group D was significantly related to the success of incision closure .The were significant differences between group A and D ,group B and group D(P<0 .05) .Conclusion Small incision(smaller than 1 cm) and plastic end attachment with suction and clip enclosure technique are optimal in NOTES procedure in this ex vivo porcine stomachs study .

Objective: To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders. Methods: Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing. Results: The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies. Conclusion A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.

Objective To observe the effect of PIF1 knockdown on cell growth and cell cycle arrest induced by ionizing radiation.Methods HeLa cell lines that consistently down-regulated PIF1 were prepared by the lentivirus granules interfering technology and confirmed by real-time PCR and Western blotting.The effect of down-regulation of PIF1 on cell growth and cell cycle arrest induced by ionizing radiation was evaluated by cell counting and flow cytometry.Results HeLa cell lines consistently down-regulating PIF1 were established.The growth of HeLa that down-regulated PIF1 was inhibited greatly after 4 Gy of γ-ray irradiation.There was little cell proliferation until the 5th day post 4 Gy γ-ray.Moreover, the S phase block and G2/M phase block of PIF1 knock-downed cell lines were significantly delayed after 8 Gy γ-ray irradiation.Conclusion Knockdown of PIF1 can significantly enhance the radiation sensitivity and delayes the S phase block and G 2 /M phase block induced by ionizing radiation.

Objective The optimal access for natural orifice transluminal endoscopic surgery is still uncertain .This study was designed to compare the practicability and maneuverability of transgastric ,transunmbilical ,and transrectal approach in abdominal surgery in a canine model .Methods Three dogs were used in this research .Three approach :trangastric ,transunmbilical and tran-srectal approach were carried out for abdominal exploration ,liver biopsy ,bladder biopsy and an attempted cholecystectomy .The ma-neuverability ,endoscopic image ,performer′s perception ,and spatial orientation were evaluated .Results The maneuverability of trangastric ,and transrectal approach NOTES were better than transunmbilical NOTES .Abdominal exploration ,live biopsy ,and bladder biopsy were completed successfully .The cholecystectomy was failed because of poor exposure and difficulty of separating the around tissure .Conclusion The optimal approach for upper abdomen NOTES is transrectal route .For lower abdomen NOTES , the trangastric approach is superior to other accesses .Further study is needed to develop more flexible and precise equipment for NOTES and to evaluate more feasible access approach .

Objective:To explore the genetic basis for a child with mental retardation.Methods:The child was subjected to chromosomal microarray analysis (CMA) and targeted capture next-generation sequencing for the exons of genes related to genetic and metabolic diseases. Candidate variants were verified by Sanger sequencing of the child and his parents.Results:CMA suggested that the child has a 47, XYY karyotype. Next-generation sequencing revealed that the child has harbored compound heterozygous variants of the AUH gene, including c. 677G>A (p.R226H) and c. 373C>T (p.R125W), which were respectively inherited from his parents. Based on the American college of Medical Genetics and Genomics (ACMG) standards and guidelines, the c. 677G>A (P.r226h) variant was predicted as variant of uncertain significance (PM2+ PP4+ PP3), whilst the c. 373C>T (P.R125W) variant was predicted as likely pathogenic (PM1+ PM2+ PP3+ PP4). Conclusion:The child had XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I due to biallelic pathogenic variants of the AUH gene.

Medical information registration of rare disease cases serves as scientific basis for development of population intervention strategy, improvement of medical service system, better patient medical support level, and higher medicine accessibility. Based on their hospital work, the authors introduced the development practice of an all-dimensional management system for such information registration, in terms of formulating policies, establishing organizational structure, organizing and publicizing policies for the medical service of rare diseases, maintaining registration data and so on, so as to provide the reference for the management of registration work of rare diseases.

Purpose To evaluate the effect of PCSK9 gene knockout on myocardial function in obese mice via ultrasound strain technology,and to discuss the related mechanisms.Materials and Methods Twenty six-week-old wild-type C57BL/6 male mice were selected and randomly divided into a normal group(n=10)and an obese group(n=10).Additionally,ten six-week-old PCSK9-/-C57BL/6 male mice were selected as the PCSK9-/-group.Mice in the obese group and PCSK9-/-group were fed with high-fat feed to create models,while those in the normal group were fed with regular feed.After 12 weeks,mice that were successfully modeled were selected from the obese group and PCSK9-/-group.Then,the three groups of mice were subjected to cardiac ultrasound,transmission electron microscopy and immunofluorescence staining to observe relevant indicators.Results The interventricular septal end-diastolic thickness of mice in obese group,normal group,and PCSK9-/-group were(0.98±0.13)mm,(0.77±0.07)mm,(0.78±0.13)mm,respectively,with statistically significant difference(F=5.10,P=0.02).The obese group was thicker than the normal group(t=2.73,P＜0.05),while the PCSK9-/-group was thinner than the obese group(t=-2.92,P＜0.05).There were statistically significant differences in global longitudinal strain and global circumferential strain of the left ventricle among the three groups(F=7.44,15.40,P＜0.05),with the obese group showing a decrease in global longitudinal strain and global circumferential strain compared to the normal group(t=3.79,5.50,P＜0.05).The PCSK9-/-group showed an increase in global longitudinal strain and global circumferential strain compared to the obese group(t=-2.53,-3.37,P＜0.05).Electron microscopy and immunofluorescence results showed that the myocardial ultrastructure of the obese group was damaged,and the expression of NLRP3 and Caspase-1 were higher than that of the normal group(t=12.53,-4.73,P＜0.05),the myocardial ultrastructure damage in the PCSK9-/-group was significantly improved,the expression of NLRP3 and Caspase-1 were lower than that in the obese group(t=-6.23,2.05,P＜0.05).Conclusion Ultrasound strain can more sensitively detect changes in myocardial function in obese mice with PCSK9 gene knockout compared with conventional cardiac ultrasound parameters.Knockout of the PCSK9 gene may improve myocardial function in obese mice by inhibiting the expression of NLRP3 and Caspase-1.