Objective To study the effects of prenatal exposure to diethylstilbestrol(DES) on expressions of ACTIN and proliferating cell nuclear antigen(PCNA) in the development of gubernaculum testis of fetal male mice.Methods Pregnant mice were randomly divided into 6 groups and injected with DES subcutaneously from the 9th gestational day to the 17th day at dosages of 0,25,50,100,200 ?g?kg~(-1)?d~(-1) dissolved in 0.2ml dimethyl sulfoxide(DMSO).The mice in the control group were given normal saline alone.The mice were sacrificed and the fetuses were quickly removed for fixation on the 17th day.Histological changes were observed with light microscope by sliced serially in coronal plane.The expressions of ACTIN and PCNA in gubernaculum testis were detected by immunohistochemical methods.Results In experimental groups,the gubernaculum testis of mice was hypoplasia.The expressions of ACTIN and PCNA in gubernaculum testis were lower in the DES treated groups than those in the control group with obvious dose-effect correlation(P

Objective To analyze risk factors for the perioperative heart failure following hip fracture surgery in the aged patients.Methods The present study included 186 elderly patients(≥ 65 years)who had received hip fracture surgery from August 2009 to Janurary 2014 in our department.Their clinical data were analyzed to define risk factors for perioperative heart failure.Results Factors significantly affecting the perioperative heart failure included age,gender,hypertension,time from injury to operation,general health before injury,pain score,perioperative blood transfusion,perioperative human serum albumin transfusion,fluid infusion during operation,perioperative balance between daily fluid intake and output,perioperative temperature changing and heart diseases.A multivariate Logistic regression analysis revealed that the independent risk factors for perioperative heart failure included general health before injury (OR =21.967,P=0.000),perioperative balance between daily fluid intake and output (OR =19.349,P =0.005),heart diseases (OR =6.009,P =0.006).Conclusions In aged patients undergoing hip fracture repair operations the independent risk factors for perioperative heart failure include general health before injury,perioperative balance between daily fluid intake and output,heart diseases.Perioperative risk assessment and prevention are the keys of better prognosis.

Objective To investigate the clinical epidemiologic characteristics of patients with hepatitis C virus(HCV)infection post blood transfusion.Methods The polymerase chain reaction (PCR)and enzyme linked immunosorbent assay(ELlSA)were used to detect HCV RNA and antiHCV,respectively.Analysis was performed for patients' age distribution,cause of primary diseases,exposure years,ingredient and amount of transfusion,incubation period and liver function damage.The statistical processing were performed with chi-square test,t-test and correlation analysis.Results HCV RNA levels were higher than 3.0 log10 copy/mL in 85.3%infected patients with a median of 5.99log10 copy/mL,among which 19.7%patients showed viral load 3.0 to 4.0 log10 copy/mL and 69.9%showed 5.0 to 6.0 log10 copy/mL.Eighty-one point six percent(40/49)of infected persons were confirmed as HCV RNA positive by HCV RNA qualitative analysis,while 99.7%(383/384)patientswere detected as anti-HCV positive by serological test.The sensitivity of serological test was higher than both HCV RNA quantitative and qualitative assays(F=57.138,P=0.000;F=63.149,P=0.000,respectively).HCV infection post blood transfusion was more common in people of 30 to 60years old.Most cases(84.4%)got the first time exposure during 1990 to 1994.More than 10%cases had primary disease as obstetrics, orthopedics or gastrointestinal tract hemorrhage. Eighty percent received whole blood product transfusion.The mean interval between transfusion and clinical diagnosis was (86.0±54.6 ) months. Eighty nine percent of infected patients had liver function damage, while most of them showed elevated alanine aminotransferase (ALT) with no more than 5 upper limits of normal (ULN). Conclusions Post transfusion HCV infection mainly happened in adulthood. Infected patients usually have liver function damage with elevated ALT with no more than 5 ULN and medium HCV RNA levels.

From the ethanol extract of Adina rubella;twelve compounds were isolated by silica gel and ODS col-umn chromatography.Their structures were identified by spectroscopic analysis as:5;7-dihydroxy-2-methyl-chromone-7-O-β-D-glucopyranoside(1);scopolin(2);(+)-lyoniresinol-3a-O-β-D-glucopyranoside(3);(6S;7R;8R)-7a-[(β-D-glucopyranosyl)oxy]lyoniresinol(4);harman-3-carboxylic acid(5);lyaloside(6);3-oxoquinovid acid(7);oleanolic acid(8);3-acetyl oleanolic acid(9);quinovic acid 3-O-β-D-glucopyranosyl-28-O-β-L-rham-nopyranosyl ester(10);quinovic acid 3-O-β-D-glucopyranosiyl-28-O-β-D-glucopyranosyl ester(11)and pyrocin-cholic acid 3-O-α-L-rhamnopyranosyl-28-[β-D-glucopyranosyl-(1 →6)-O-β-D-glucopyranosyl]ester(12). Compounds 3;4;6;8-10 were isolated from this plant for the first time.

Background Retinitis pigmeutosa (RP) is a progressive inheritance disease.It is characterized by highly genetical and phenotypical heterogeneity.With the rapid development of genomics,new methods are applied to the genetic screening of RP.Objective This study was to characterize the clinical features of a Chinese family with autosomal RP and to screen the candidate genes.Methods Twelve members from this family were included in the study.All participants underwent complete ophthalmologic examinations.Targeted-capture next generation sequencing (NGS) based molecular genetic analysis was performed on two patients of this RP family(Ⅱ5,Ⅱ 7).The DNA sample from the two patients was separately sequenced using custom capture gene chip,which includes 59 retinal disease genes.The sequencing results were analyzed by bioinformatics technology.Identified variations were verified in the rest family members by PCR and Sanger sequencing.This study was approved by Ethic Committee of West China Hospital,and informed consent was obtained from the subjects.Results Four members of this family were diagnosed as RP,and the rest were asymptomatic.Missense mutation (c.3065T＞C,p.Phe1022Ser) in USH2A and missense mutation (c.1699G＞A,p.Ala1319Gly) in PDE6A were found in two patients (Ⅱ 5 and Ⅱ7).The variants were not co-segregated with the phenotype of this family.The causative mutation was not found by the targeted-capture NGS based eye disease chip,but it ruled out a large number of candidate genes for RP.Conclusions Our study suggests that targeted-capture NGS based eye disease chip can quickly detect mutations in known RP genes.It can be a new applicable and efficient method for molecular genetic analysis of ocular disease.

Objective:To deeply explore the clinical features and gene mutations of Waardenburg syndrome (WS) by tested of the eyes and genes of three patients.Methods:A Case series study. From 2019 to 2021, 3 children with WS who were diagnosed at Department of Ophthalmology, West China Hospital of Sichuan University were included in the study. Among them, there were 2 males and 1 female; the ages were 3, 4, and 12 months, respectively. All children underwent external eye, anterior segment, fundus and fluorescein fundus angiography, the clinical features of the eyes were observed. The peripheral venous blood of 3 children was collected, and the whole genome DNA was extracted for whole exome sequencing to analyze the gene mutation sites.Results:All children had different degrees of iris heterochromia and fundus pigment abnormalities, and were accompanied by sensorineural hearing impairment. Case 1 had dystopia canthorum; case 2 had macular fovea hypoplasia. The sequencing results of case 1 showed that there were large fragments of heterozygous deletion in exons 2-8 of the Paired box 3 ( PAX3) gene, who was diagnosed as WS Ⅰ type. The sequencing results of of case 2 showed heterozygous mutation in exon 9 of Microphthalmia-associated transcription factor ( MITF) gene (c.1066 C >T), combined with heterozygous mutation in exon 1 of HPS6 gene (c.1417 G> T), who was diagnosed as WS Ⅱ type. The sequencing result of case 3 showed that the exon 3 of SOX10 gene had loss of heterozygosity (c.497_500 delAAGA), who was diagnosed as WS Ⅳ type. Both PAX3 and SOX10 gene mutations were newly discovered mutations. Conclusions:The ocular clinical features of Waardenburg syndrome include hypopigmentation of the iris and choroid, and dystopia canthorum, etc. Early screening of the eye and hearing will help to better diagnose the disease. The large fragments of heterozygous deletion in exons 2-8 of the PAX3 gene, the heterozygous mutation in exon 9 of MITF gene (c.1066 C> T), and the loss of heterozygosity in exon 3 of SOX10 gene are pathogenic genetic variations of 3 children.

Objective: To investigate the clinical effect and safety of entecavir capsules in the treatment of treatment-naïve HBeAg-positive patients with chronic hepatitis B (CHB). Methods: A total of 158 HBeAg-positive CHB patients were given oral entecavir capsules at a dose of 0.5 mg/time once a day for 144 weeks. Clinical outcome and safety were evaluated at baseline and at 24, 48, 72, 96, 120, and 144 weeks of treatment respectively. The Fisher’s exact test was used for the analysis of categorical data. Results: After 144 weeks of treatment, 90.91% of all patients achieved virologic response (< 69 IU/ml), the normalization rate of alanine aminotransferase was 88.18%, the clearance rate of HBeAg was 33.33%, and the seroconversion rate of HBeAg was 24.07%. Of all patients, 2 dropped out due to adverse events and 5 experienced serious adverse reactions. Conclusion Entecavir capsules can inhibit viral replication and have good safety in treatment-naïve HBeAg-positive CHB patients.