Epimutations are errors in the normal process of epigenetic regulation which can result in aberrant transcriptional silencing of a normally active gene or reactivation of a normally silent gene.Epimutations are generally considered to be somatic events and to be confined in affected tissues.However, recent studies of patients with hereditary nonpolyposis colorectal cancer(HNPCC) have showed that allele-specific hypermethylation of CpG islands in the promoter region of the MLH1 gene, one of the causes of the tumor,existed in all the tissues examined.In addition,germ-line epimutations of other tumor suppressor genes(TSGs),such as MSH2 and BRCA1,have also been reported,demonstrating that epimutations might arise in the germline(during gametogenesis or early embryonic development).The role of germ-line epimutations might be as important as germ-line mutations in human disease.We reviewed the update on germ-line epimutations of TSGs including the possible mechanisms underlying germ-line epimutations,the possibility of transgenerational inheritance.and their impact on our understanding of human disease.

OBJECTIVE To investigate the clinical significance of human papillomavirus in paraffin-embedded cervical cancer and precancerous lesion tissue by gene clip technology.METHODS 153 Patients with paraffin-embedded examples.DNA was extracted from paraffin-embedded tissues and amplified by polymerase chain reaction(PCR).RESULTS The positive rate of high-risk HPV of inflammation was 8.33%,CINⅠ45.83%,CINⅡ/CINⅢ 87.50% and invasive cancer 92.21%.The HPV infection rate of squamous cell carcinoma was 94.12%.The HPV infection rate of adenocarcinoma was 88.46%.Among all the patients with cervical cancer and CIN,the infection rate of HPV16,the most genotype,was 88.98%.The infection rate of HPV18,the second most subtype,was 33.06%.In addition,the minority were infected HPV52、33、59、68.Among 48 cases of cervical squamous cell carcinoma,the infection rate of HPV16,HPV18 was 93.73% and 27.08% respectively.Among 23 cases of cervical adenocarcinoma,the infection rate of HPV16,HPV18 was 82.61% and 52.17% respectively.On the other hand,all the patients with cervicitis were HPV single infection.The HPV multiple infection rate of CINⅠ,CINⅡ/CINⅢ,cervical cancer was 20.00%,28.57%,36.62% respectively.CONCLUSIONS Gene chip technology can detect multiple HPV genotypes in paraffin-embedded tissues with high sensitivity and specificity,which is useful in the pathogenesis and prevention of cervical cancer.

Objective To explore the open experimental training model using multimedia control system for nursing students to develop their core competencies. Methods Different model designs of multimedia control system were applied in the study group. After the one year training program, a self-designed survey was used to collect the students' evaluation. A comprehensive test was carried out and the scores of it were compared to the traditional training group. Results Test sores of the study group was significantly higher than of the control group's (P<0.01), and the survey results showed that using multimedia control system in the open experimental training program was highly accepted by the nursing students (97.1%). Conclusions Using multimedia control system in the open experimental training program can improve the nursing students' competencies and comprehensive quality.

Adult ; Angiotensinogen ; genetics ; DNA Mutational Analysis ; Female ; Genome ; Humans ; Liver Cirrhosis ; genetics ; Male ; Middle Aged ; Mutation ; Promoter Regions, Genetic

In order to explore the diagnosis and therapy of Diamond Blackfan anemia (DBA), the clinical data of 45 cases of DBA admitted in our hospital from February 1994 to July 2011 were analyzed retrospectively. The clinical characteristics, results of laboratory examination, treatment reaction and outcome of disease were investigated. The results indicated that out of 45 children diagnosed as DBA, 14 cases (31.1%) had short stature and physical malformation. All patients had anemia with reticulocytopenia. Thirty-four patients (75.6%) had mean corpuscular volume. Eleven patients (24.4%) had macrocytic anemia. Bone marrow examination showed a marked erythroid hypoplasia in all patients. Out of 29 cases tested for fetal hemoglobin (HbF), 13 cases (44.8%) had high level of HbF. Erythroid colony-forming unit of bone marrow was tested in 25 patients, among them 12 patients (48%) showed normal plasia, 13 (52%) showed hypoplasia. The erythropoietin (EPO) levels of 17 patients were elevated. Karyotypes were examined in 28 patients, and showed all normal. The treatment was based on corticosteroids and Cyclosporine A. Thirty patients had good response to corticosteroid therapy, and 10 of them obtained a sustained corticosteroid-induced remission. Twenty cases discontinued corticosteroid therapy after remission, as a result, 15 cases (75%) relapsed, moreover all the relapsed cases still had good response to corticosteroid. Two relapsed patients suffered from aplastic anemia, one of them died of therapy failure. Six patients were unresponsive to corticosteroid, 1 of which achieved remission with cyclosporine A and the others continued to receive regular transfusions. 3 patients received iron chelation therapy. It is concluded that the clinical characteristics, complete blood count, bone marrow smear, HbF level and EPO level are useful to make a diagnosis of DBA. Most patients have a good response to corticosteroid therapy, but relapse rate is high when drug was discontinued. Patients unresponsive to corticosteroid should receive regular transfusions and chelation therapy.
Anemia, Diamond-Blackfan ; diagnosis ; therapy ; Bone Marrow Examination ; Child ; Child, Preschool ; Erythroid Precursor Cells ; Female ; Humans ; Infant ; Male ; Retrospective Studies

OBJECTIVETo investigate the distribution characteristics and influencing factors of mental workload of teachers in primary schools.

METHODSNational Aeronautics and Space Administration-Task Load Index (NASA-TLX) was used to assess the mental workload levels for 397 teachers of primary schools in a city.

RESULTSThe mental workload (64.34+10.56) of female teachers was significantly higher than that (61.73+ 9.77) of male teachers (P<0.05). The mental workload (65.66+10.42) of "-35" years old group was the highest. When age of teachers was younger than 35 years old, there was a positive correlation between the mental workload and age (r=0.146, P<0.05). When age of teachers was older than 35 years old, there was a negative correlation between the mental workload and age (r=-0.190, P<0.05). The teachers with higher education level felt higher mental workload (unstandardized coefficients B=1.524, standardized coefficients /=0.111, P<0.05). There was a positive correlation between the mental workload and working hours per day (unstandardized coefficients B =4.659, standardized coefficients/3 =0.223, P<0.001).

CONCLUSIONMental workload of the teachers in primary schools is closely related to age, educational level and work hours per day. Work hours per day is an important risk factor for mental workload. Reducing work hours per day (8 hours) is an effective measure of alleviating the mental workload of teachers in primary schools.

Adolescent ; Adult ; Aged ; Faculty ; Female ; Humans ; Male ; Middle Aged ; Schools ; Stress, Psychological ; epidemiology ; Surveys and Questionnaires ; Workload ; psychology ; Young Adult

Objective To investigate the therapeutic effect of dense-packing auto hair grafting technique on the restoration of seborrheic alopecia. Methods With local anesthesia, a scalp strip was harvested from the back of the head. Under operating microscope (Various graft was created from the scalp strip, including micro-grafts with 1-2 hairs, mini-grafts with 3-4 hairs and sliver graft with 5-6 hairs. In the alopecia recipient area, micro slots were made with a small triangle-edged needle for the micro-grafts,mini slits were made with mini blade for the mini-grafts and foramen ovale were made with a slot punch. The grafts were then implanted into these holes. Results 32 cases of seborrheice alopecia were treated with the above mentioned technique from March 2007 to July 2009. Postoperative following up for 12-24 month showed that the grafted hairs were growing well with average 90 % survival of the hair. 81 % of the patients obtained satisfactory results with only one stage operation. Six patients needed the second operation to improve the appearance. All of the patients were satisfied with the appearance. Conclusions The dense-packing hair grafting technique with various grafts not only saves time of operation, but also obtains dense grafted hair and well appearance. The results are satisfactory to most patients with only one stage operation.

Objective To investigate the effects of ammonia on liver function in children with epilepsy , and the risk factors of valproic acid ( VPA)-induced hyperammonemia.Methods The total of 236 cases of epileptic children with VPA monotherapy were divided into three groups, hyperammonemia group(HG, 40 cases), abnormal group(AG, 96 cases) and control group(CG, 100 cases).The K-nonparametric test for independent sample method was used to determine the correlation between the ammonia and the liver function of epileptic children.Logistic regression method was used to analyze the risk factors , such as age , gen-der, weight, dosage, concentration of VPA, of VPA induced to hyperam-monemia.Results Among the three groups , the liver function of 25 ca-ses(62.5%), 42 cases(43.8%), 43 cases(43.0%) were beyond the reference range respectively , and there were 5 cases ( 12.5%) , 7 cases (7.3%), 2 cases (2.0%) appeared liver injury respectively.The fre-quencies of epileptic children with liver injury in HG was significantly higher than that in AG and CG ( P<0.05 ).Logistic regression showed that age(small), the daily dose(big),the concentration of VPA (high) were the risk factors of VPA induced hyperammonemia.Conclusion When the epileptic children were treated with VPA mono-therapy , the concentration of ammonia in vivo should be concerned.We could adjust the dose and plasma concentration of VPA to avoid the occurrence of hyperammonemia in well -controlled children.

Objective To investigate the distribution of gene polymorphism of CYP450 2C9 and VKORC1-1639A/G in the Chinese population as well as the difference of genetic polymorphism between Chinese Han population and other ethnic populations.Contribution of CYP2C9 and VKORC1 genotype to the maintenance doses on warfarin was also studied.Methods The genotype and allele frequencies were calculated and compared with those in other populations.One hundred and one patients with stable anticoagulation with warfarin under a target international normalized ratio(INR)of 2.0 to 3.0 were enrolled for studying the relationship between the CYP2C9 and VKORC1 gene polymorphism and the warfarin maintaining dosage.Results CYP450 2C9~*3 + 1075C/A allele frequencies were:AA in 449 cases(92.2%),AC in 36 cases(7.4%)and CC in 2 cases(0.4%),respectively.VKORC1-1639A/G allele frequencies were AA in 415 cases(85.2%),GA in 72 cases(14.8%),but GG in no case(0.0%),respectively.When linear stepwise regression analysis was used to identify factors contributing to warfarin stable dose,the final equation was:ln(D)=0.346 + 0.017(weight)-0.376(CYP450 2C9~*3 + 1075C/A)+ 0.148(VKORC1-1639A/G)-0.002(age)(r=0.827,P=0.02).Conclusion There existed significant gene polymorphism CYP450 2C9~*3 + 1075C/A and VKORC1-1639A/G in the Chinese Han population.Both Gene polymorphisms of CYP450 2C9*3 + 1075C/A and VKORC1-1639A/G were significantly affecting the maintaining dose of warfarin in the Chinese population.

The goal of the study is to evaluate the self-microemulsifying drug delivery system (SMEDDS) which enhances the oral bioavailability of the poorly water-soluble drug, total flavones of Hippophae rhamnoides (TFH). It is orally administered for the protection of human cardiovascular system. Self-microemulsifying time, particle size, polydispersity index (PDI), morphological characterization, in vitro dispersity, stability, in situ intestinal absorption and relative bioavailability were investigated in detail. The TFH-SMEDDS rapidly formed fine oil-in-water microemulsions with 0.1 mol x L(-1) hydrochloride solution, with average size of which was less than 40 nm, PDI was below 0.2, and the particles of which were observed round-shaped under transmission electron microscope. Almost 90% of TFH (expressed with quercetin) was released from SMEDDS within 20 min, which was remarkably higher than that from common capsules. The stability test showed the TFH-SMEDDS maintained stable in 6 months under accelerated condition. In situ absorption study demonstrated the absorption rate constant of TFH-SMEDDS (expressed with quercetin) was significantly higher than that of TFH in ethanolic solution (P < 0.05). The absorption of TFH from SMEDDS showed a 4.18-fold increase in relative bioavailability (expressed with quercetin) compared with that of the suspension. The results suggest that SMEDDS is a promising drug delivery system to increase the oral bioavailability of TFH.
Administration, Oral ; Animals ; Biological Availability ; Drug Carriers ; Drug Delivery Systems ; Emulsions ; Flavones ; administration & dosage ; isolation & purification ; pharmacokinetics ; Fruit ; chemistry ; Hippophae ; chemistry ; Intestinal Absorption ; Male ; Particle Size ; Plant Leaves ; chemistry ; Plants, Medicinal ; chemistry ; Random Allocation ; Rats ; Rats, Sprague-Dawley