Objective To report a consanguineous family with lamellar ichthyosis and to detect the mutations in transglutaminase 1 (TGM1) gene in this family. Methods Genomic DNA was extracted from the blood samples of a 19-year-old male patient with lamellar ichthyosis, his family members and 100 normal human controls. PCR was carried out to amplify all the encoding sequences (15 exons) and adjacent flanking sequences of TGM1 gene followed by bidirectional sequencing. Results A C1666T mutation in the 11th exon in TGM1 gene, which resulted in the substitution of ACA (threonine) by ATA (isoleucine) at codon 529, was detected in the proband, while both his parents carried the C1666T mutation in heterozygous form, and his sister was a C/C homozygote. None of the 100 normal control individuals carried the mutation in TGMlgene. Conclusions The de novo mutation from ACA (threonine) to ATA (isoleucine) at codon 529, may contribute to the development of lamellar ichthyosis. Consanguineous marriage can increase the risk for lamellar ichthyosis by raising the probability of homozygosis of C 1666T mutation in TGM 1 gene.

Objective To investigate the association of SPRR2E gene and psoriasis vulgaris by sequencing the DNA of Chinese Han psoriatic families. Methods DNA was extracted from the peripheral blood cells of thirty-two Chinese psoriatic families. The sequence of the SPRR2E encoding region was measured by ABI377 DNA Sequencer. The linkage disequilibrium was assessed by extended transmission disequilibrium test (ETDT) and GENEHUNTER software. Results An A/G polymorphism at nucleotide 156 of the SPRR2E encoding region was identified. There were three genotypes, including AA, GG and AG. Although the single nucleotide polymorphism (SNP) did not change the encoding of amino acid, the single nucleotide polymorphism locus was associated with psoriasis vulgaris by the ETDT analyzing. The A-allele was found to be transmitted more frequently than that of the G-allele. GENEHUNTER analysis was concordant with the results of the ETDT. Conclusion A single nucleotide polymorphism (SNP) in SPRR2E gene encoding region is associated with psoriasis vulgaris in Han Chinese population.

Objective To study the responsible genes of psoriasis vulgaris on chromosome 1q21 in Chinese Han population.Methods Thirty-six families with psoriasis vulgaris,including 92 patients and 98 normal relatives,aged from 12 to 81 years with an average age at 44 years,were enrolled in this study.Blood samples were obtained from all the participants and subjected to DNA extraction.A genome scan was performed with eight microsatellites distributing over chromosome 1q21-1q23.1.Evidence for linkage disequilibrium was assessed with extended transmission disequilibrium test(ETDT)program and Genehunter software.Results Three short tandem repeat markers were found to be associated with psoriasis vulgaris.With Genehunter,evidence for linkage disequilibrium between D1S2345 and psoriasis was found with the NPL value being 1.735(P=0.0329).Moreover,ETDT revealed that the 97-bp allele of D1S2346 and 283-bp allele of D1S484 were preferentially delivered to affected descendants(P＜0.05).Conclusion Chromosome 1q21 contains genes associated with psoriasis vulgaris in Chinese Han population.

Objective To summarize the clinical experience of successful intervention in single chronic coronary actery total ocdusion (CTO) lesions by the transradial.Methods A retrospective analysis was conducted in 103 patients with single CTO lesions who got intervention treatment by the radial artery.Results ( 1 ) Of the 103 cases,57 cases had unstable angina,12 cases had stable angina,and 34 cases chronic myocardial infarction.Lesions' block time was ≤ 6 months in 83 cases,and ＞ 6 months in 20 cases.(2)The path vessels of the 103 patients have no severe tortuosity and anatomical structure variation.Fifty-one cases occurred left anterior descending occlusion,25 cases occurred left circumflex branches occlusion,and 27 cases occurred right coronary artery occlusion.Furthermore,24 cases had chronic complete occlusion,and 79 cases had chronic functional block.The side branches did not block in 91 cases,no lesions(bridge) collateral formation occurred in 87 cases,lesions length was less than 15 mm in 67 cases,and tapered lesions was observed in 81 cases.( 3 ) Final intervention rate via Judkins,XB,EBU guide catheter was 37.86％,30.10％ and 29.13％ respectively.(4)the PILOT successfully through the lesions for the series wire guided was 64.08％.(5) 1.25 mm diameter series with a balloon through the first lesions and successful expanding was observed in 57 cases (55.34％),and 1.5 mm diameter series with a balloon occurred in 38 cases(36.89％ ).Conclusion Intervention treatment by the radial of single CTO lesions is feasible for experienced performers.The successful intervention depends on path vessels unimpeded,target vessels with characteristic pathological features and reasonable choice of instruments.

Objective To identify the genetic locus for disseminated superficial actinic porokeratosis(DSAP).Methods Genome DNA was extracted from the whole blood of the family members of a pedigree of DSAP.Genotyping on chromosome12q that had been identified was performed by using7microsatellite mark-ers to scan the family members of DSAP and analysed with LINKAGE(5.1Version).Results A maximum2-point lod score of5.15with marker D12S79at a recombination fraction(?)=0.00was found.Conclusion Our study supports that DSAP gene localizes at the long arm of chromosome12,which was first reported in the literature.

Objective To investigate the compliance of secondary prevention and the relationship with the long-term outcomes in patients undergoing percutaneous coronary intervention(PCI).Methods 589 patients undergoing PCI were followed-up,and factors including major adverse cardiac events(MACE)),smoking status and the usage of antiplatelet agents,angiotensin converting enzyme inhibitor(ACEI)/angiotensin Ⅱ receptor blocker(ARB),statins,beta blocker,calcium channel blocker and nitrates were recorded.Results The average follow-up time was 18.92 months.At discharge,588 patients(99.83%)were prescribed clopidogrel for(7.89±4.96)months;there were 31 patients(5.26%)who completely discontinued antiplatelet therapy during follow-up.At discharge,the prescription rate of aspirin,ACEI/ARB,beta blocker,statins,calcium channel blocker and nitrates was 98.98%,41.94%,63.50%,83.02%,19.69%and 46.52%respectively,whereas at follow-up,these were decreased to 94.4%,35.99%,55.86%,65.89%,17.49%and 35.31%.At follow-up,there were still 105 current smokers(17.83%).Complete cessation of antiplatelet therapy and current smoking were related to the increased risk of non-fatal myocardial infarct(9.68%v.s.1.08%,P＜0.01);smoking(4.76%v.s.0.83%,P＜0.01)andMACE(19.35%v.s.6.45%,P＜0.01);smoking(11.43%v.s.6.20%,P＜0.05).Conclusion Most patients can adhere to secondary prevention during follow-up,however,the compliance with secondary prevention should be improved further.Cessation of antiplatelet therapy and current smoking contribute to poor prognosis.

Objective: To investigate the sex- and age-specific association between resting heart rate and hypertension in rural adult residents of Henan province. Methods: At baseline, a total of 20 194 participants were randomly selected from Xin′an County of Henan province between July 2007 and August 2008. After excluding participants with hypertension or without resting heart rate data at baseline, and participants died or without hypertension outcome or diagnosed as gestational hypertension during follow-up between July 2013 and October 2014, 10 212 participants were finally included in this study. Multiple linear regression model was used to examine the association between resting heart rate and change of blood pressure. Logistic regression model was used to estimate the association between resting heart rate and risk of hypertension. Results: There were 2 059 new hypertensive cases (839 male) during the 6 years follow-up. After controlling for potential confounders, per 5 beats/minutes increases in resting heart rate was associated with 0.18 mmHg (1 mmHg=0.133 kPa) (95%CI 0.01-0.36 mmHg, P=0.046) absolute increase in systolic blood pressure and 7% higher risk of developing hypertension in women (95%CI 1.03-1.11, P<0.05). Compared with resting heart rate<70 beats/minutes, the adjusted RRs for 76-82 and>82 beats/minutes groups were 1.39 (95%CI 1.18-1.63, P<0.05) and 1.22 (95%CI 1.02-1.45, P<0.05), respectively. For both age groups, increased resting heart rate was positively associated with risk of hypertension in women(RR=1.05(95% CI 1.01-1.10), P<0.05 (the women those <60 years); RR=1.14(95% CI 1.04-1.25), P<0.05 (the women those≥60 years). However, no significant association was found between resting heart rate and hypertension in male residents. Conclusions Increased resting heart rate is associated with high risk of hypertension in women who live in rural area, especially in elder women of this cohort.