Objectives To compare the safety and efficacy of radial artery access versus femoral artery access for percutaneous coronary intervention in acute myocardial infarction population. Methods From June 2004 to December 2006, 446 patients with acute myocardial infarction treated with percutaneous stenting were reviewed retrospectively. The radial artery approach was used in 242 patients, and the femoral artery approach in 204 patients. The success of the procedure, procedure duration, X-ray exposition, volume of contrast, incidence of major adverse cardiac events and complications were compared between the radial artery and femoral artery approach. Results Total procedure duration, X-ray exposition, the immediate success of the procedure and the proportion of patients with reperfusion time above 60min are higher in patients with radial artery acess than that with femoral artery access [(62. 1 ± 23. 4) min vs(56. 8 ± 16. 7)min,(2829. 4 ± 1365.2) mGY vs (2352. 3 ± 903.1) mGY, 4% vs 0.9% and 7.44% vs 2.94%respectively, all P ＜ 0. 05]. Conclusions In non-selected patients with acute myocardial infarction treated with primary stent implantation, the success rate of the radial artery approach is lower than the femoral artery approach and could prolong the reperfusion time. It is suitable to change artery access immediately if abnormality is found via radial artery access.

Objective To investigate the relationship between the single nucleotide polymorphisms(SNPs) of disrupted in schizophrenia 1 (DISC1) gene and autism in Chinese Han children.Methods Genome-wide SNP genotyping was performed by using Illumina HumanHap CNV370-Duo Chip in 278 autistic trios,157 autistic individuals and 435 healthy controls.Genotype data of SNPs within DISC1 gene were selected.The association between these SNPs loci and autism was analyzed through case-control association analysis and family-based transmission disequilibrium test.Results Fifty-two SNPs were involved for further analysis.1.Case-control association analysis showed that 6 SNPs (rs4658939,rs2793093,rs10495309,rs2492367,rs1 1122362,rs1073179) and 7 haplotypes (AGAAAG constructed with rs823163-rs823161-rs4658933-rs1417585-rs10864693-rs6541281,GGG and AAA constructed with rs4658939-rs2793093-rs10495309,GG and AG constructed with rs2492367-rs12046794,GAA constructed with rs9432040-rs2356606-rs1 1122362 and GG constructed with rs9431714-rs1073179) had significant differences between autistic patients and controls(x2 =4.704,4.915,5.568,8.087,4.043,5.183,5.369,5.295,4.440,5.304,7.615,4.018,4.811,P =0.030,0.027,0.018,0.005,0.044,0.023,0.021,0.021,0.035,0.021,0.006,0.045,0.028).2.In the transmission disequilibrium test analysis,2 SNPs (rs4658945,rs11122362) and 2 haplotypes (AG constructed with rs10495310-rs4658945,GAA constructed with rs9432040-rs2356606-rs11122362) showed significant transmission disequilibrium(x2=4.445,5.400,3.973,5.126,P =0.035,0.020,0.046,0.024).Conclusions The polymorphism of rs11122362 and GAA haplotype constructed with rs9432040-rs2356606-rs11122362 are associated with autism,and DISC1 gene is a susceptibility gene for autism in Chinese Han children.

Objective This study was aimed to investigate the relationship between serum leptin,adiponectin,visfatin levels and obesity and essential hypertension in female subjects.Methods According to BMI and blood pressure,206 female participants enrolled were divided into four groups:group 1:obesity and hypertension (48 cases);group 2:non-obesity but hypertension (48 cases);group 3:obesity and normotension (56 cases) and group 4:normal BMI and blood pressure (54 cases).Serum leptin,adiponectin and visfatin levels were detected and their relationships to BMI,blood pressure and waist circumference were analysed.Results Serum leptin levels were significantly higher in non-obese groups [group 2:(4.47 ±1.26) ng/L,group 4:(3.73-±1.18)ng/L] than in obese groups [group 1:(2.97 ± 1.46) ng/L,group 3:(3.02 ± 1.18) ng/L],and higher in hypertension groups than in normotension groups.Serum adiponectin levels were obviously higher in group 4 [38.99 (19.75,103.71) μg/L] than in the other three groups.There were no significant differences in adiponectin levels among group 1,2 and 3.Serum levels of visfatin were lower in normotension groups [group 3:3.19 (0.96,9.45) ng/L;group 4:3.23 (1.92,4.64) ng/L] than in hypertension groups [group 1:3.84 (3.40,5.35) ng/L;group 2:3.75 (1.63,6.67) ng/L] irrespective of obesity.Logistics regression analysis showed that there was 1.6％,8.3％,or 5.45％ increased risk for hypertension for each 1 μg/L decrease in adiponectin,1 cm increase in waist circumference,or 1 μg/L increase in visfatin level in obesity,respectively.No relationship could be viewed between leptin and hypertension.Conclusions Adiponectin and visfatin levels were correlated with obesity and blood pressure in females.Both adipokines may play a crucial role in the development of hypertension in female obesity.

Objective To study the clinical characteristics and genetic cause of a Chinese family affected with paroxysmal kinesigenic dystonia(PKD).Methods The detailed clinical data and the blood samples of the affected patients with PKD and their relatives were collected.After genomic DNA was extracted from blood leukocytes,target linkage analysis Was performed using multiplex PCR by microsatellite marker's located in the reported critical region on chromosome 16.All exons and flanking regions of SCNN1G and ITGAL genes were amplified by PCR-sequence.Results In this three-generation 12 member family,5 individuals have been diagnosed as PKD.Target linkage analysis suggested the disease gene linked to chromosome 16.between D16S3396 and D16S3057 with two-point LOD score of 1.47 at recombination fraction(θ)=0.0.All affected individuals shared a common haplotype which co-segregated with the phenotype.Except for 8 reported SNPs,no pathologic sequence variants were found in candidate genes SCNN1G and ITGAL.Conclusions The studied family is genetically linked to the reported critical locus of PKD on chromosome 16.SCNN1G and ITGAL were ruled out as the causative genes for the studied pedigree.Further genetic analysis in this family may reveal new genetic cause responsible for PKD.

Objective:Mutation in the gap junction beta 6 (GJB6) gene has been reported to be associated with an autosomal dominant disorder hidrotic ectodermal dysplasia (HED), characterized by congenital nail clubbing, alopecia and palmoplantar keratoderma. The aim of this study is to investigate relationship between genetic mutation in GJB6 and HED in an affected Chinese family.
Methods:We selected a Chinese HED family consisting of a total of 17 individuals including 8 HED patients (5 males and 3 females). The whole coding region of GJB6 was amplified by polymerase chain reaction and sequenced.
Results:Sequence analysis identified a heterozygous missense mutation c.31G>A (p.G11R) in GJB6 gene of affected individuals, but not in healthy individuals.
Conclusion:A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for HED in Chinese population.

Autism is a group of etiology and clinical heterogeneous neurodevelopmental disorders with an onset before 3 years old. It has 3 core characteristics: deficits in verbal communication; impairment of social interaction; restricted interests and repetitive behaviors. The incidence is increasing over time worldwide. Twin and family studies have demonstrated that autism has a high heritability (>90%). Although certain progress of autism genetic study has been made in the last decades and several autism susceptibility genes and loci have been identified, there are still about 70%-80% of patients for whom an autism-related genetic change cannot be identified.
Autistic Disorder ; genetics ; Child, Preschool ; Epigenomics ; Genetic Heterogeneity ; Humans ; Infant

G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form. Conclusion It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.

Objective:To investigate the current situation of insomnia in patients with acute coronary syndrome (ACS), and analyze the influencing factors of insomnia in the ACS patients, so as to provide information on the development of new strategies for the treatment of insomnia in ACS patients.Methods:This is a multicenter and prospective observational study. A total of 771 ACS patients who met the criteria were selected from March 2013 to June 2015. The baseline social demographic information, sleep quality questionnaire, general anxiety disorder scale-7(GAD-7),patient health questionnaire-9(PHQ-9), short-form 12 health survey questionnaire(SF-12), and enhancing recovery in coronary heart disease patients social inventory(ESSI) were completed within 7 days after admission. Logistic regression analyses were used to analyze the influencing factors of insomnia in ACS patients.Results:A total of 741 subjects with valid questionnaires were collected, including 510 males (68.8%) and 231 females (31.2%). Among them, 487 (65.7%) subjects had at least one insomnia symptom: 308 (41.6%) subjects had difficulty in falling asleep, 369 (49.8%) subjects were easy to wake at night, 116 (15.7%) subjects woke up earlier than they expected, 74 (10.0%) subjects experienced both woke up earlier and difficulty in falling asleep, and 53 (7.2%) subjects woke up earlier, woke up at night and had difficulty in falling asleep at the same time. Logistic regression analyses showed that before admission physical activity ( OR =0.636, 95% CI 0.411-0.984), depression ( OR=1.908, 95% CI 1.101-3.305) and low social support ( OR=0.278, 95% CI 1.198-3.301) were independent factors of insomnia in ACS patients. Conclusions:Nearly 2/3 ACS patients have symptoms of insomnia. Difficulty in falling asleep and easy to wake up at night are the most common manifestations. Physical activity, depression and social support independently are associated with insomnia.

OBJECTIVE: To set up a prostate cancer cell line in which beta-catenin expression is stably suppressed and to investigate the role of Wnt/beta-catenin signaling pathway in prostate tumorgenesis. METHODS: We select 3 sites in the complete coden sequence region of beta-catenin gene as the RNAi targets, ligated the annealed double pre-DNA strands into the retroviral vectors pSUPER-retro and transfected them into the packaging cells PA317, and then collected supernatant with retrovirus to infect DU145. After selection by puromycin and culture expansion, the stable cell clones were attained. Expression of the 2 target genes of Wnt/beta-catenin signaling pathway cyclinD1 and c-myc, was detected in the beta-catenin RNAi cells by Western blot. The effect of suppressing beta-catenin by RNAi on cell proliferation was quantified by methylthiazoletetrazolium (MTT) assay. RESULTS: Western blotting and RT-PCR showed that the expression level of beta-catenin in the 2 stable cell clones apparently decreased. CyclinD1 and c-myc expression decreased in the beta-catenin RNAi cells. MTT showed that the cell number of beta-catenin expression suppression cell clones decreased significantly (P < 0. 05), suggesting the cell proliferation was prevented. CONCLUSION The beta-catenin gene stable suppression cell line was successfully established.
Cell Line, Tumor ; Genetic Vectors ; Humans ; Male ; Prostatic Neoplasms ; metabolism ; pathology ; RNA Interference ; RNA, Small Interfering ; Retroviridae ; genetics ; Signal Transduction ; Wnt Proteins ; biosynthesis ; genetics ; beta Catenin ; biosynthesis ; genetics

OBJECTIVE: To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree. METHODS: Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing. RESULTS: We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals. CONCLUSION The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Base Sequence ; DNA Mutational Analysis ; Female ; Heterozygote ; Humans ; Keratins ; genetics ; Keratoderma, Palmoplantar, Diffuse ; genetics ; Male ; Molecular Sequence Data ; Mutation ; Pedigree