Occupational safety and health status and protection strategies of workers in new business forms / 环境与职业医学

The new business forms are the new patterns of the job market extended by the use of mobile internet, big data, cloud computing, and other information technologies in the context of a new round of information technology development. In recent years, under the catalysis of the new employment model, a large number of new business employees have emerged such as food delivery riders, couriers, and online car-hailing drivers, whose employment forms are flexible and don’t fully conform to the establishment of labor relations with the employers, and whose problem of overtime work is common. The employment characteristics of new business forms of "focusing on performance and ignoring responsibility" make workers at great risks of occupational injuries and occupational health problems such as work-related musculoskeletal disorders, mental disorders, and overwork. However, the current research on occupational safety and health of workers in new business forms is insufficient, and the experience of institutional practice and supervision is also limited. Therefore, based on relevant research progress at home and abroad, this paper discussed the health injuries of workers in new business forms, summarized associated influencing factors from four aspects: employment form, employment affiliation, long working hours exposure, and institutional guarantee, and then proposed countermeasures to strengthen occupational safety and health protection of workers. For the current problems in the employment of new business forms, the government, enterprises, and workers need to work together to improve the legal and regulatory system for employment of new business forms, and standardize occupational safety and health management, thus effectively protect the occupational safety and health rights and interests of workers in new business forms.

Research progress on influencing factors of occupational injury in manufacturing workers / 环境与职业医学

Globally, manufacturing workers are one of the most vulnerable groups to occupational injuries. Occupational injuries can lead to absenteeism, disability or even death, and most of the inflicted workers involve young adults aged 18-40 years, suggesting a safety and health problem that needs close attention. In the working environment of manufacturing industry, there are a variety of occupational injury risk factors, involving individuals, equipment, environment, and management, which should be considered comprehensively. This study found comprehensive research coverage on the influencing factors of occupational injuries in manufacturing industry at individual, environmental, and management levels at home and abroad, and rich research results on the impacts of psychological factors on occupational injuries. However, factors associated with occupational injuries in equipment safety and engineering like man-machine environment need further research. Influencing factors at all levels should be comprehensively considered in the surveillance and intervention of occupational injuries in manufacturing industry to protect health and safety of workers.

Impacts of poor working conditions, occupational psychology, and enterprise risk factors on occupational injury by path analysis / 环境与职业医学

Background Occupational injuries, which can result in absenteeism, disability, or death, are closely related to poor working conditions. However, the improvement of operating conditions are often time-consuming and require significant economic inputs. Both occupational psychology and enterprise risk factors have been proved to be related to the occurrence of occupational injuries, but their roles in the influence path of adverse working conditions leading to occupational injuries remain unclear. Objective To explore the roles of occupational psychology and enterprise risk factors in the impact of adverse working conditions on occupational injury, so as to provide a scientific basis for enterprises with adverse working conditions to carry out targeted occupational injury intervention programs. Methods The survey data of 5997 manufacturing enterprises were obtained from the European Survey of Enterprises on New and Emerging Risks (ESENER) database. The data on enterprise risk characteristics, occupational injuries, working conditions, and occupational psychological factors were extracted and assigned. Occupational injury differences by enterprise categories were examined by chi-square test. Correlations between interest variables were evaluated by Spearman test. Path analysis with Bootstrap method was conducted using AMOS 26 software, and ratio of chi-square statistic to degree of freedom (χ2/ν), comparative fit index (CFI), Tucker-Lewis index (TLI), and root mean square error of approximation (RMSEA) were used to evaluate the path model candidates. The effect size and its proportion were calculated for variables (occupational psychological factors, enterprise risk factors, and adverse working conditions) included in the final model. Results The M (P25, P75) scores of occupational injuries, adverse working conditions, and occupational psychological factors were 40 (20, 50), 50 (30, 60), and 20 (10, 30), respectively. The enterprises that reported occupational injuries accounted for 25.5% (1550 enterprises) of the total enterprises. Proportions of the enterprises that reported occupational injuries varied significantly by company scale, branch companies, temporary employment, language barriers, and establishment time (P<0.05). The results of Spearman test showed that occupational injuries were positively correlated with working conditions (rs=0.440), occupational psychological factors (rs=0.205), company scale (rs=0.307), temporary employment (rs=0.282), and language barriers (rs=0.158); but negatively correlated with branch companies (rs=−0.180) and establishment time (rs=−0.176) (P<0.05). In the path analysis, the fitness indexes of the final model were χ2/ν=2.85, CFI=0.997, TLI=0.993, and RMSEA=0.018 (90%CI: 0.011, 0.025). The indirect effect size values and constituent ratios of enterprise risk factors and occupational psychological factors in the effect of adverse working conditions on occupational injuries were 0.166 (30.01%) and 0.013 (3.13%) respectively. The indirect effect size value of occupational psychological factors in the effect of enterprise risk factors on occupational injuries and its constituent ratio were 0.022 and 6.85%. Conclusion Enterprises with adverse working conditions may control the risk of occupational injuries by offering better solutions to surmount language barriers and temporary employment, developing occupational psychological intervention and optimization programs such as improving working hours system. At the same time, large enterprises, enterprises without branches, or enterprises with a long history are the focus of occupational injury prevention and control.

Achievements of occupational health under the leadership of CPC / 环境与职业医学

Since its founding 100 years ago, the Communist Party of China (CPC) has attached great importance to the occupational health of workers, and closely linked the safeguard of occupational safety and health of workers with the missions of leading the people to stand up, get rich, and become strong. Based on this, the achievements of occupational health work made under the leadership of the CPC since the new democratic revolution, socialist revolution and construction, the new period of reform and opening up and socialist modernization, and socialism with Chinese characteristics for a new era were summarized, so as to provide reference for understanding the legacy of China's occupational health undertaking, and innovating to create the future.

Application value of computer-aided diagnosis in diagnosing pneumoconiosis / 中国职业医学

OBJECTIVE: To explore the application value of computer-aided diagnosis technology based on deep residual network in the diagnosis of occupational pneumoconiosis(hereinafter referred to as pneumoconiosis). METHODS: A total of 5 424 digital radiography chest images were collected from occupational health examiners using a convenient sampling method.These images were used to establish a data set. After training with the data set, the pneumoconiosis computer-aided diagnosis system was used to independently diagnose the test set images(50 positive and negative cases each) and output a positive probability value. Six diagnostic physicians with varied ages and different experiences performed independent diagnosis on the test set and assisted diagnosis with reference to computer results. The diagnostic accuracy was evaluated using the area under the receiver operating characteristic curve(AUC) value, sensitivity, and specificity.The Kappa consistency test was used to evaluate the diagnostic consistency. RESULTS: The AUC value, sensitivity, specificity, and Kappa value of pneumoconiosis diagnosis increased after using computer-aided diagnosis. The sensitivity increased from 0.74 to 0.85(P<0.05)and the Kappa value increased from 0.64 to 0.79(P<0.05). The AUC value increased from 0.90 to 0.95, and the specificity increased from 0.89 to 0.94, but there were no statistical difference(P<0.05). CONCLUSION: Computer-aided diagnosis can improve the sensitivity and consistency of pneumoconiosis screening and reduce the differences in diagnosis among physicians.

Incidental discovery of DMD gene deletions by chromosomal microarray analysis / 中华医学遗传学杂志

OBJECTIVE@#To discuss the value of chromosomal microarray analysis (CMA) for the identification of DMD gene deletions during prenatal diagnosis.@*METHODS@#G-banded karyotyping and CMA were performed on fetuses with ultrasonographic soft markers but no family history for Duchenne/Becker muscular dystrophy (DMD/BMD). Denaturing high-performance liquid chromatograghy (DHPLC) was used to detect DMD gene mutations in umbilical cord blood and peripheral blood samples from the mothers.@*RESULTS@#For fetus 1, analysis of amniocytes showed a normal karyotype, while CMA detected a 119 kb deletion at Xp21.1 (32 565 489 - 32 681 461), which encompassed exons 10 to 16 of the DMD gene. The result was confirmed by DHPLC analysis. The mother was found to have loss of heterozygosity in the same region. For fetus 2, karyotyping of amniocytes also showed a normal male karyotype, while CMA detected a 254 kb deletion at Xp21.1 (32 104 604 - 32 358 874), which encompassed exons 41 to 44 of the DMD gene. The same deletion was not detected in the mother. DHPLC analysis confirmed the presence of both deletions.@*CONCLUSION@#Two fetuses harboring DMD gene deletions but without a family history were discovered. CMA can improve the efficiency for detecting single gene diseases caused by deletions.

The prenatal diagnosis ,classification and outcome of anomalous origin of pulmonary artery from ascending aorta / 中华超声影像学杂志

Objective To investigate the clinical value of fetal echocardiography in prenatal diagnosis , classification and outcome of abnormal origin of pulmonary artery from ascending aorta ( AOPA) . Methods From January 2014 to June 2018 ,18 cases of AOPA diagnosed by echocardiography in 43966 fetuses from Shaanxi Fetal Congenital Heart Disease Diagnostic Center were retrospectively analyzed . The echocardiographic features ,pathological and anatomical classification ,genetic characteristics and outcome of postnatal echocardiography were summarized . Results Abnormal origin of pulmonary artery branches could be demonstrated by color Doppler imaging system in 18 cases . Ten cases ( 55 .6％ ) of right pulmonary artery abnormalities originated from ascending aorta ( AORPA ) ,in which 6 cases ( 60％ ) were distal pulmonary artery abnormalities ,4 cases ( 40％ ) were proximal pulmonary artery abnormalities . Eight cases( 44 .4％ ) of left pulmonary artery abnormalities originated from ascending aorta ( AOLPA ) ,including 7 cases ( 87 .5％ ) of distal pulmonary artery abnormalities and 1 case ( 12 .5％ ) of proximal pulmonary artery abnormalities . Twelve AOPAs were associated with other intracardiac malformations with 6 right ventricular double outlet (DORV) accompanying with pulmonary stenosis ,3 tetralogy of fallots( TOF) ,2 atrioventricular septal defects( AVSD) ,1 single ventricle with single atrium ,and 1 Berry syndrome ,and no casese were associated with extracardiac malformations .Amniocentesis karyotype analysis and gene chip detection in 5 cases showed normal results . Four of 18 cases were born ,in which 3 cases died and 1 case was progressively suffered with right pulmonary artery atresia ,10 cases were inducted of labor ( 4 autopsy) and following-up was lost in 4 cases . Conclusions Incidence of AOLPA and distal type in fetal AOPA is higher than that in child and adult from references ,DORV is abnormal type mostly associated with intracardiac malformation . AOPA has no obvious genetic result for less cases . The main risk after AOPA birth is pulmonary infection . Echocardiography is of great value for AOPA in prenatal diagnosis , outcome observation and surgical planning after birth .

Study on diagnosis of fetal congenital heart disease by echocardiography and integrated management in a single center in northwestern region of China / 中华超声影像学杂志

Objective To explore the detection rate ,types ,accompanying abnormalities and prognosis of fetal congenital heart disease(CHD) in a single center in northwest China ,in order to set up a foundation for further studying the epidemiological characteristics of fetal CHD and integrated management of fetal CHD in the prenatal and postnatal . Methods A total of 2725 CHD in 45015 fetus diagnosed by fetal echocardiography were enrolled . The fetal CHD detection rate and the composition ratio were calculated . Follow-up results between the simple CHD and complex CHD were analyzed . Results The detection rate of fetal CHD in our center was up to 6 .1％ . There were 1589 cases of complex CHD ,accounting for 58 .3％ in all the fetal CHD ,of which the most common type was single ventricle ,followed by tetralogy of Fallot , atrioventricular septal defect and double outlet right ventricle ;Simple CHD 1136 cases ,accounting for 41 .7％ in all the fetal CHD ,the most common type was ventricular septal defect . The number of abortion cases ,intrauterine and postnatal natural deaths of fetal CHD accounted for 60 .3％ ( 1357/2251) of the total follow-up ,of which complex CHD and chromosomal abnormalities accounting for the majority . 68 cases of CHD underwent surgical treatment after birth ,of which complex CHD were predominant . 37 cases of simple CHD spontaneous closure and 27 cases of simple CHD genetic test results were abnormal . Conclusions The detection rate of CHD in this group is relatively high ,which is related to the prenatal diagnosis consultation center . Fetal complex CHD is more common while the prognosis is worse than simple CHD . Prenatal and postnatal integrated management of fetal CHD has important clinical value in early treatment of complex CHD .

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase gene mutation: a case report / 中华围产医学杂志

We hereby reported the clinical manifestations and genetic diagnosis of a rare case of congenital adrenal hyperplasia (CAH) caused by cytochrome P450 oxidoreductase ( POR ) gene mutation. The case was an 11-year-old girl presented with craniofacial and skeletal malformation such as a depressed nasal bridge, radiohumeral synostosis and camptodactyly in feet. Moreover, she was diagnosed with ambiguous genitalia, and her mother had obvious masculine features during pregnancy. Laboratory tests showed that the levels of peripheral blood progesterone, 17-hydroxyprogesterone and adrenocorticotrophic hormone (ACTH) had increased significantly, which were consistent with the symptom of CAH. Genetic testing revealed a complex heterozygous mutation in POR gene of maternally inherited c.744C>G (p.Tyr248Ter) and paternal inherited c.1370G>A (p.Arg457His). Therefore, she was diagnosed with cytochrome P450 oxidoreductase deficiency (PORD), which is a rare type of CAH. The patient received oral glucocorticoid therapy and underwent knee arthroplasty.

Prenatal diagnosis of fetal ring chromosome 18 with deletion: a case report / 中华围产医学杂志

We hereby reported a case of ring chromosome 18 complicated by the deletion of 18p11.32p11.31 and 18q21.33q23 diagnosed prenatally by G-banding karyotype and chromosomal microarray analysis (CMA). Ultrasound scan indicated a single umbilical artery and intrauterine growth retardation at the second trimester. The result of G-banding karyotyping was 46, XN, r(18)(p11.3q21.3) and CMA indicated that there was a 3.3 Mb deletion at 18p11.32p11.31 and a 16.9 Mb deletion at 18q21.33q23. All these suggested that the fetus might present with clinical manifestations such as growth retardation, epilepsy, speech delay and growth hormone deficiency after birth, so the couple decided to terminate the pregnancy after genetic counseling.

Application value of chromosomal microarray analysis in prenatal diagnosis of lateral ventriculomegaly fetuses / 解放军医学杂志

Objective To analyze the genetic etiology of lateral ventriculomegaly fetal on the genome-wide level with chromosomal microarray analysis (CMA),and investigate the relationship between copy number variations (CNVs) and lateral ventriculomegaly and the application value of CMA in prenatal diagnosis of fetuses with lateral ventriculomegaly.Methods Seventy fetuses with lateral ventriculomegaly but normal or uncertain karyotype were selected and invasive prenatal diagnosis was performed in Xi Jing Hospital of the Fourth Military Medical University from Jan.2015 to Nov.2016.Microarray testing was performed using Affymetrix CytoScanTM 750k arrays and the results were analyzed according to biological information science database.The fetal development was regularly inspected,and follow up was conducted to find out the pregnancy outcome and fetal postnatal conditions.Results In 70 cases of lateral ventriculomegaly fetuses,there were 9 fetuses with pathogenic copy number variations (CNVs),3 fetuses with likely pathogenic CNVs and 1 fetus with likely pathogenic 1 oss of heterozygosity (LOH).During the 70 fetuses with lateral ventriculomegaly,2 pathogenic CNVs were detected in 6 fetuses with severe and non isolated lateral ventriculomegaly (33.3％).Pathogenic CNVs was not detected but 1 likely pathogenic CNV was detected in 3 fetuses with severe and isolated lateral ventriculomegaly (33.3％).Six pathogenic CNVs were detected in 31 mild and non isolated lateral ventriculomegaly (19.4％),and 2 likely pathogenic CNVs were also detected in these group (6.5％).One pathogenic CNV and 1 likely pathogenic CNV were detected in 30 fetuses with mild and isolated fetal lateral ventriculomegaly.Conclusions CMA can identify chromosome abnormality microdeletion/microduplication which was unrecognizable by conventional karyotyping analysis.The application of CMA may increase the detection rate of pathogenic CNVs in fetuses with lateral ventriculomegaly,and benefit evaluation of fetal prognosis in prenatal genetic counselling.

Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality / 解放军医学杂志

Objective To analysis the clinical high risk factors for fetal chromosomal abnormalities.Methods Amniocentesis,chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women,who presented sole indication of prenatal diagnosis such as advanced age,high risk factors and fetal ultrasound abnormalities,for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities.Results The detection rates of abnormal karyotype were 5.0％ (57/1143),1.7％ (40/2367) and 4.3％ (57/1319) in the older women group (age＞35),abnormal maternal serological screening group and abnormal fetal ultrasound finding group,respectively.The detection rats of karyotype abnormality were 6.9％ (23/333) in women with fetal congenital heart diseases,8.5％ (20/234) in those with abnormal amniotic fluid,1.1％ (1/89) in those with fetal ventriculomegaly,1.1％ (10/898) in those with fetal intracardiac hyperechogenicity,5.9％ (2/34) in those with fetal choroid cyst and 5.6％ (1/18) in those with fetal renal pelvis broadening.Conclusion The pregnant women with age＞35,fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history.

The effect of berberine on the expression of matrix metalloproteinase-13 and ADAMTS-5 in articular cartilage in a rabbit model of osteoarthritis / 中华风湿病学杂志

Objective To observe the effect of intra-articular injection of berberine on the expression of matrix metalloproteinase (MMP)-13,ADAMTS-5,Aggrecan and Collagen Ⅱ in the cartilage of rabbits with osteoarthritis.Methods Thirty male New Zealand White rabbits underwent bilateral anterior cruciate ligament transection (ACLT).On the basis of randomization one knee of each rabbit was treated with 0.3 ml 100 μmol/L berberine resolved in the normal saline (NS) (the experimental group) and the other knee was treated under the same schedule using NS (the placebo group) 4 weeks after transection,once a week for five weeks.Nine weeks after ACLT,all rabbits were killed and the knee joints were evaluated by histology and biochemistry.The mRNA expression of MMP-13,ADAMTS-5,Aggrecan and Collagen Ⅱ in the cartilage was analyzed using reverse transcription polymerase chain reaction (RT-PCR).All data were analyzed using Student's t test.Results Mankin histological evaluation showed that the extent and grade of cartilage damage in the experimental group (6.9±1.9) were less severe than the placebo group (9.3±1.2)(t=3.394,P＜0.01).The mRNA expression of MMP-13 and ADAMTS-5 decreased (160±54;166±47) (t=3.311,P＜0.01;t=2.651,P＜0.05) while that of Aggrecan (261±50) and Collagen Ⅱ (335±64) increased in cartilage compared to the placebo group (233±45;234±67;186±64;254±69),the differences were significant (t=2.941,P＜0.01;t=2.743,P＜0.05).The content of hydroxyproline (Hyp) and glycosaminoglycan (GAG) in cartilage [(23.5±2.8) μg/mg;(30±3) μg/mg] increased significantly in the experimental group (t=2.941,P＜0.01;t=2.743,P＜0.05) compared to the placebo group [(19.9±2.8) μg/mg;(27.4±2.9) μg/mg].Conclusion Berberine protects against cartilage degradation and inhibits the progression of osteoarthritis by suppressing MMP-13 and ADAMTS-5 expression.

Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.</p><p><b>METHODS</b>Potential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.</p><p><b>RESULTS</b>All positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.</p><p><b>CONCLUSION</b>Tri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.</p>

Protective effect of LR-90 on articular cartilage in rabbit model of osteoarthritis / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the protective effect of LR-90 on articular cartilage in rabbit model of osteoarthritis.</p><p><b>METHODS</b>The cultured rabbits chondrocytes were assigned to be treated with IL-1β (10ng/ml) or IL-1β (10ng/ml)+LR-90 (50 mg/L). The mRNA expression of MMP-13, ADAMTS-5, aggrecan and collagen II in chondrocytes were assessed by real-time quantitative reverse transcription polymerase chain reaction (RT-PCR). Twenty male New Zealand white rabbits underwent bilateral anterior cruciate ligament transection (ACLT) to establish a animal model of osteoarthritis. Four weeks after model established, on the basis of randomization one knee of each rabbit was treated with 50 mg/L LR-90 in normal saline (NS) (experimental group) and the other knee was treated with same volume of NS (control group), 1/week × 5. Nine weeks after ACLT all rabbits were sacrificed and the knee joints were evaluated by gross morphology and histology. The mRNA expression of IL-1β, MMP-13, ADAMTS-5, aggrecan and collagen Ⅱ in articular cartilage was analyzed by RT-PCR.</p><p><b>RESULTS</b>Gross morphology and Mankin histological evaluation showed that the extent and grade of cartilage damage in the experimental group were less severe than those in the control group.Compared to IL-1β group, LR-90 treatment suppressed the mRNA expression of MMP-13 and ADAMTS-5, and enhanced aggrecan and collagen Ⅱ mRNA expression. Consistent with the in vitro results, the intraarticular LR-90 administration suppressed the mRNA expression of IL-1β,MMP-13 and ADAMTS-5 (all P<0.01), while enhanced mRNA expression of aggrecan and collagen Ⅱ in cartilage (all P<0.01).</p><p><b>CONCLUSION</b>LR-90 protects against cartilage degradation and inhibits the progression of osteoarthritis in rabbit mode1 of osteoarthritis, which is associated with the suppressing IL-1β, MMP-13, ADAMTS-5 and promoting aggrecan and collagen Ⅱ mRNA expression in cartilage.</p>

Protective Effects of Memantine on Isofluane￣induced Decrease of Proliferation in Neural Stem Cells / 医药导报

Objective To investigate the protective effects of memantine on isofluane￣induced decrease of proliferation in neural stem cells ( NSCs) and the potential mechanisms in vitro. Methods Neural stem cells were isolated from rat hippocampi (postnatal day 1) and grew in culture. Cultured NSCs were randomly divided into the control ( Group Control), Vehicle (Group Vehicle), Isoflurane ( Group Iso), Isoflurane +Memantine ( Group Iso +Mem) and Isoflurane + Memantine +LY294002 groups (Group Iso+Mem+LY).Proliferation was assessed by cell counting and BrdU incorporation.Western blot was conducted to detect protein expression of phospho￣Akt. Results Compared with the control group,BrdU incorporation and phospho￣Akt expressions in neural stem cells significantly declined after 2.4% isoflurane exposure for 6 h (P<0.01).However, isofluane￣induced decrease of BrdU incorporation and phospho￣Akt expressions was attenuated by the treatments of memantine (P<0.01)). It was showed that Akt inhibitors LY294002 reversed the protective effects on neural stem cells proliferation by memantine(P<0.01). Conclusion The results suggest that memantine treatment might attenuate isofluane￣induced decrease of proliferation in neural stem cells via Akt signaling pathway.

The expressions of HSFl and XAF1 in endometrial carcinoma and their correlation analysis / 西安交通大学学报(医学版)

ABSTRACT:Objective To test the expressions of heat shock transcription factor 1 (HSF1 )and XIAP-associated factor 1 (XAF1 )in different endometrial tissues,and analyze the association between their expressions and the clinicopathological features of this malignancy.Methods The expressions of HSF1 and XAF1 in 64 cases of endometria1 carcinoma (EC group)and 33 cases of normal endometrial tissues (NE group)were detected with immunohistochemistry S-P method.The correlation was observed.Results The positive expression rate of HSF1 was much higher in EC group than in NE group (76.6% vs .36.4%,P <0.05).The positive rate of XAF1 was 31.2% in EC group and 72.7% in NE group (P <0.05).The positive expressions of HSF1 and different subgroups of histological grade,myometrial invasion and lymph node metastasis were significantly different (P <0.05)in EC group.The positive expressions of XAF1 and different subgroups of histological grade,myometrial invasion,clinical stage and lymph node metastasis were significantly different (P < 0.05 )in EC group.There was a negative correlation between HSF1 and XAF1 in EC group (P <0.05).Conclusion In EC group,the high expression of HSF1 may inhibit the growth of XAF1 expression,cause excessive growth of cancer cells,reduce the apoptosis of cancer cells,and finally lead to the further development of tumors.

Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Denaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.</p><p><b>RESULTS</b>Among the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.</p><p><b>CONCLUSION</b>Combined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.</p>

Effect of nicotinic acid on hyperphosphatemia in maintenance hemodialysis patients / 中国医师进修杂志

Objective To assess the effect of nicotinic acid on hyperphosphatemia in maintenance hemodialysis (MHD) patients.Methods Twenty-six MHD patients with stable disease condition and hyperphosphatemia that could not be successfully controlled by conventional methods were selected.All patients were treated with oral nicotinic acid for 20 weeks.The changes of serum calcium,high sensitivity Creactive protein (hs-CRP),albumin (ALB),aspartate aminotransferase (AST),alanine aminotransferase (ALT),gamma-glutmyltransferase (GGT),total bilirubin (TBIL),derect bilirubin (DBIL),high density lipoprotein cholesferol (HDL-C),low density lipoprotein cholesferol (LDL-C),triacylglycerol (TG),total cholesterol (TC),intact parathyroid hormone,hemoglobin,platelet count,etc were observed before and after treatment.Results Two patients withdrew from this study because.of pruritus and diarrhea after two weeks of oral nicotinic acid.In 24 cases,compared with that before treatment,the serum phosphate,calcium-phosphorus product was decreased [(1.49 ± 0.19) mmol/L vs.(2.13 ± 0.16) mmol/L,(4.40 ± 0.49)mmol2/L2 vs.(5.45 ± 0.36) mmol2/L2] and HDL-C was increased [(1.45 ± 0.14) mmol/L vs.(1.18 ± 0.15)mmol/L] after treatment,and there was significant difference (P ＜ 0.05).There was no significant difference in the serum calcium,iPTH,LDL-C,TG,TC,ALB,AST,ALT,GGT,TBIL,DBIL,hs-CRP,platelet count,hemoglobin between before and after treatment (P ＞ 0.05).Conclusions Nicotinic acid is effective as all adjuvant measure in control of hyperphosphatemia in patients on MHD and can increase HDL-C.It provides a new approach for the treatment of hyperphosphatemia.

Diagnostic value of fetal single ventricle types and accompanied malformations by echocardiography / 中华超声影像学杂志

Objective To improve detection rate and diagnostic accuracy of single ventricle(SV) in obstetric fetal echocardiography,to investigate the common types and complicated malformations of SV in the fetus,and to summarize the differential announcements in diagnosing fetal SV.Methods In 345 fetal hearts which were diagnosed as congenital heart disease by fetal echocardiography in our hospital,73 cases diagnosed as SV,including 3 cases appeared as ones of twins,were included in this study.Systemic scanning and multiple-views fetal echocardiography were used to examine these enrolled fetuses.Results In all 73 SV eases,3 cases were diagnosed as simple SV,the others were diagnosed as SV accompanied with other abnormalities,among them 44 cases accompanied with single atrium,18 cases with single atrium and persistent truncus arteriosus,2 cases with pulmonary atresia,20 cases with pulmonary artery stenosis,4 cases with partial atrioventricular septal defect,3 eases with aorta dysplasia or aortic valve dysplasia.SV types were classified as 24.7％ in type A,13.7％ in type B,46.6％ in type C and 15.0％ in type D respectively.68.2％ of the cases were diagnosed with aortic D-transposition,and 45.2 ％ with common inlet,42.5 ％ with single inlet and 12.3 ％ with double inlet respectively.42 SV cases were executed termination of pregnancy which 11 cases were confirmed by pathology and the other 31 cases were out of following-up.Conclusions Most cases of fetal SV were accompanied other abnormalities and simple SV was rare.Type C in which ventricular structure was combined with left and right ventricle was the most common type.To avoid the false diagnosis,much attention must be paid to distinguish big papillary muscle and abnormal muscle bundle from interventricular septum during ultrasonic examination.