Objective:To analyze gene mutations in 3 families with self-improving collodion ichthyosis.Methods:Clinical data were collected from 3 patients with self-improving collodion ichthyosis. DNA was extracted from the peripheral blood of patients and their parents, and high-throughput sequencing was performed in the patients by using a multi-gene panel targeting congenital ichthyosis. After identification of causative gene loci, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:All the 3 patients presented with a collodion-like membrane at birth, which was shed within 2-4 weeks after birth, and then they gradually showed similar features of mild ichthyosis, including dry skin, tiny scales at local sites, flexural involvement, mild sweating, heat intolerance, cheek flushing, mild palmoplantar keratosis or palmar hyperlinearity. Compound heterozygous mutations were identified in the ALOX12B gene of the 3 patients, including a paternal mutation c.406_408delGAG and a maternal mutation c.77T>C in case 1, a paternal mutation c.1013C>T and a maternal mutation c.1286C>G in case 2, a paternal mutation c.1232T>C and a maternal mutation c.1440C>A in case 3. Function prediction analysis showed that 4 missense mutations c.77T>C, c.1286C>G, c.1013C>T, c.1232T>C and 1 deletion mutation c.406_408delGAG may exert pathogenic effect, and 1 nonsense mutation c.1440C>A led to the generation of a termination codon encoding a truncated protein p.Tyr480Ter, which may affect the protein function and cause disease. None of the 6 mutation sites had been reported in the past.Conclusion:Compound heterozygous pathogenic mutations were identified in the ALOX12B gene of the 3 patients with self-improving collodion ichthyosis, which were inherited from their parents.

Objective: To analyze the trends of female breast cancer incidence and mortality in Beijing, Shanghai, Linzhou and Qidong in China between 1988 and 2007. Methods: The data of female breast cancer incidence and mortality and the data of corresponding population during 1988-2007 were collected from four eligible cancer registries which could provide complete sets of historical data. The pooled analysis and time-trend analysis of the data were performed. Results: During 1988-2007, the APCs (annual percent changes) of age-standardized incidence rates (by China's population in 1982) of female breast cancer in Beijing, Shanghai, Linzhou and Qidong were 2.49%, 2.55%, 7.04% and 4.16%, respectively. Although the average annual growth of APC of age-standardized mortality was 4.10% in Linzhou, there were no significant changes in Beijing, Shanghai and Qidong. Conclusion: During 1988-2007, the breast cancer incidence and mortality of the urban women in Beijing and Shanghai were significantly higher than those of the rural women in Linzhou and Qidong. The incidence rate of female breast cancer in these four areas showed an obvious rising trend, and this increase was more significant in rural areas. The mortality rate of female breast cancer in Linzhou also showed a rising trend, but the mortality rates in the other three areas remained steady. Copyright © 2012 by TUMOR.

Objective: To describe the incidence and mortality of female breast cancer in China during 2003-2007. Methods: The incidence and mortality data of female breast cancer and the corresponding population data from 32 eligible cancer registries in China during 2003-2007 were collected and analyzed. Results: The combined crude incidence rate of female breast cancer during 2003-2007 was 41.64 per 100 000, which was the highest among female cancer incidence rates. The combined crude mortality rate of female breast cancer was 9.63 per 100 000, which was ranked as the sixth among the mortality rates of all female cancers. The incidence rate was 3.04 times higher and the mortality rate was 1.92 times higher in urban areas than those in rural areas. Compared to the incidence and mortality rates of 184 regions provided from GLABOCAN 2008 database, the female breast cancer incidence in China was ranked as the one hundred and tenth, and the mortality was ranked as the one hundred and seventy-second. Conclusion: Breast cancer has been becoming one of the most common cancers among Chinese women. The incidence and mortality rates of female breast cancer in urban areas are significantly higher than those in rural areas, although the overall incidence and mortality rates of breast cancer in Chinese women are still at a medium or low level in the world. © 2012 by Tumor.

Objective To assess the effect of miR-141 on proliferation of human oral squamous cell carcinoma and target relationship between miR-141 and EphA2 .Methods pcDNATM6.2-GW-pre-miR-141 was constructed and identified by qRT-PCR.EphA2-WT and EphA2-MT sequences were respectively cloned into pmirGLO plasmid . The potential proliferation function of miR-141 on CAL27 cells was analyzed by MTT .The target relationship be-tween miR-141 and EphA2 was identified by Dual-Luciferase Assay System , qRT-PCR and Western blot .Results We constructed successfully the recombinant plasmids , including pcDNATM6.2-GW-pre-miR-141, pmirGLO-E-phA2-WT and pmirGLO-EphA2-MT, and the transfection efficiency of pre-miR-141 was increased in CAL27 cells compared to control group(P<0.001).miR-141 could suppress the proliferation of CAL27 cells(P<0.05). Furthermore, a significant reduction of luciferase activities of CAL27 cells co-transfected with pre-miR-141 and EphA2-WT(P<0.001).The mRNA(P<0.001) and protein expression levels of EphA2 were decreased in CAL27 cells transfected with pre-miR-141 .Conclusions Overexpression of miR-141 may suppress cell prolifera-tion by targeting at EphA2 in CAL27 cells.

LabVIEW is applied to the realization of virtual oscilloscope, and such functions are fulfilled as waveform display, parameter measurement, filter, spectral analysis, data storage and playback.

Objective To explore the relationship between big-five personality,and public mood of volunteers,and to find out the moderator effect of justice sensitivity.Methods A total of 1 022 volunteers were investigated.The Big-Five Inventory (BFI),Public Mood Scale (PMS),Justice Sensitivity Inventory (JSI) were applied to all subjects.Results The average score was (19.77±4.49) for extraversion,(26.69± 4.13) for agreeableness,(23.33±5.37) for conscientiousness,(12.49±4.91) for neuroticism,(24.95±5.44)for openness,(8.78±3.23) for positive public mood,(3.46±3.06) for negative public mood and correlated with (26.85± 10.55) for observer sensitivity.The extraversion,agreeableness,conscientiousness and openness were correlated with positive public mood(β=0.31,P＜0.01;β=0.25,P＜0.01;β=0.29,P＜0.01;β=0.26,P＜0.0 1),and negatively correlated with public mood (β=-0.14,P＜0.01;β=-0.29,P＜0.01;β=-0.20,P＜0.01;β=-0.08,P＜0.01).Neuroticism was negatively correlated with positive public mood (β=-0.27,P＜0.01),and positively correlated with negative public mood (β=0.31,P＜0.01).The interaction effect of agreeableness and observer sensitivity negatively correlated with positive public mood,negative public mood (β=-0.09,P＜0.01;β=-0.07,P＜0.05).The interaction effect of neuroticism and observer sensitivity was positively correlated with positive public mood (β=0.08,P＜0.01).Conclusion Observer sensitivity plays a regulative role between big-five personality and mental health,and can slow the negative impact of low agreeableness to positive public mood,strengthen the impact of low agreeableness to negative public mood,and slow the negative impact of high neuroticism to positive public mood.

To evaluate the efficacy of a variety of lacrimal duct obstruction diseases treated by Nd: YAG laser lacrimal duct forming surgery using Meta analysis.
●METHODS: Relevant database in 1995 - 2012 and other network resources were retrieved by computer and manual, using MetaAnalyst software on the Meta analysis. Analysis of indicators: disease prevalence between men and women, the prevalence of various lacrimal duct diseases and the effective rate of Nd: YAG laser lacrimal duct forming surgery to treat a variety of lacrimal duct obstruction diseases.
●RESULTS: According to the inclusion and exclusion criteria, 38 subjects were selected, the cumulative number of patients included 4638 cases, the men combined prevalence was 23%; the women combined prevalence was 77%; lacrimal punctum occlusion combined prevalence was 6. 0%, combined treatment efficiency was 88. 1%; lacrimal canaliculus obstruction combined prevalence of 17. 9%, combined efficiency was 85. 6%;lacrimal common canaliculus obstruction combined prevalence was 14. 0%, 92. 7% of the combined effective rate; nasolacrimal duct obstruction combined prevalence of was 43. 6%, 93. 3% of the combined effective rate;chronic dacryocystitis combined prevalence was 18. 4%, 76. 6% of the combined efficiency. All study has heterogeneity. Selection of random effects model combined effect size. Model was statistically significant (P<0. 001).
●CONCLUSlON: The prevalence of lacrimal duct obstruction diseases of women are higher than men, lacrimal canaliculus obstruction in the lacrimal duct obstruction is in the lowest prevalence, nasolacrimal duct obstruction is the main type of lacrimal duct obstruction disease, Nd: YAG laser lacrimal forming surgery has slightly efficacy different in various lacrimal duct obstruction diseases.

Model-informed drug development (MIDD) in the development of pediatric drugs is drawing more and more attention due to the insufficiency of subjects, lack of research on ontogeny, and the limitation of ethic. The core of MIDD used for dose selection includes the population pharmacokinetic (PopPK) model and physiologically based pharmacokinetic (PBPK) model, as well as model-based simulation and prediction. PBPK model has the advantage of predicting the optimal pediatric dose before the clinical trials and has the ability of extrapolation from adult model to pediatric model. PopPK model characterizes the pediatric PK feature based on the analysis of clinical data and can be used to explore the significant covariates, which is a power tool for individualized medicine in children. With their own advantages and disadvantages, PBPK and PopPK model should be jointly used in the pediatric drug development to refine the dose regimen for children at different ages. In this study, the pediatric drug development of rivaroxaban was taken as an example to introduce the combined application of PBPK model and PopPK model in the design and validation of pediatric dose regimen in Phase Ⅰ, Ⅱ and Ⅲ trials, which may provide reference to MIDD in other pediatric drug development.

Adult ; Aged ; Bone Plates ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Joint Dislocations ; surgery ; Male ; Middle Aged ; Sternoclavicular Joint ; injuries ; surgery

Objective To investigate the accuracy of myeline base protein (MBP) in evaluation of brain injury in patients undergoing cardiac surgery performed under CPB. Methods Thirty-two ASA Ⅱ- Ⅳ patients of both sexes (20 males, 12 females) aged 59-76 yr weighing 52-72 kg undergoing coronary artery bypass grafting (CABG) under CPB were studied. Patients with history of neurological disease were excluded. Preoperative National Institute of Health stroke scale (NIHSS) score ≤ 9. According to postoperative NIHSS score on 2nd postoperative day, the patients were divided into 3 groups: group A no neurological deficit ( NIHSS score 0-9 );group B mild neurological deficit (NIHSS score 10-19) and group C moderate or severe neurological deficit (NIHSS score 20-45). Blood samples were taken from internal jugular vein before CPB (T0), at 30 min of CPB (T1), at the discontinuation of CPB (T2), and at 1, 6, 24 h after discontinuation of CPB (T3-5) for determination of the plasma MBP concentration. The duration of operation, CPB time, aortic cross-clamping time were recorded.Results In group B the plasma MBP level peaked at 6 h after CPB (T4) and then decreased rapidly while in group C the plasma MBP level exceeded the normal upper limit at T2 and kept increasing till 24 h after CPB (T5 ).The plasma MBP level decreased at T1-3.5 in group A as compared with the normal upper limit. The plasma MBPlevel was significantly higher at T3-5 in group B and at T1-5 in group C than in group A and at T1-5 in group C than in group B. Linear regression analysis indicated that there was positive correlation between plasma MBP level and CPB time at T5. NIHSS scores were positively correlated with plasma MBP level at T1 , T2, and T5. Conclusion MBP can early reflect the severity of brain injury in patients undergoing cardiac surgery under CPB.