Clinical features and genetic analysis of two children with Williams-Beuren syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of two children with Williams-Beuren syndrome (WBS).@*METHODS@#Two children who had presented at the Department of Pediatrics, General Hospital of Ningxia Medical University respectively on January 26 and March 18, 2021 were selected as the study subjects. Clinical data and results of genetic testing of the two patients were analyzed.@*RESULTS@#Both children had featured developmental delay, characteristic facies and cardiovascular malformation. Child 1 also had subclinical hypothyroidism, whilst child 2 had occurrence of epilepsy. Genetic testing revealed that child 1 has harbored a 1.54 Mb deletion in the 7q11.23 region, whilst child 2 has a 1.53 Mb deletion in the same region, in addition with a c.158G>A variant of the ATP1A1 gene and a c.12181A>G variant of the KMT2C gene. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.158G>A and c.12181A>G variants were rated as variants of unknown significance (PM1+PM2_Supporting+PP2+PP3；PM2_Supporting).@*CONCLUSION@#Both children had characteristic features of WBS, for which deletions of the 7q11.23 region may be accountable. For children manifesting developmental delay, facial dysmorphism and cardiovascular malformations, the diagnosis of WBS should be suspected, and genetic testing should be recommended to confirm the diagnosis.

Analysis of subtypes and risk characteristics of depression and anxiety among primary and secondary school students / 中国学校卫生

Objective@#To understand different types of depression and anxiety among primary and secondary school students, as well as their influencing factors, so as to provide a basis for the development of future intervention programs for adolescent mental health.@*Methods@#From December 2022 to February 2023, a self administered questionnaire survey was administered among grades 4 to 6 students and junior school, senior school students in Yixing City using Depression Anxiety and Stress Scale-21 (DASS-21), Insomnia Severity Index (ISI), Family Environment Scale (FES), and modified Yale Food Addiction Scale 2.0 (mYFAS 2.0), Ottawa Self injury Inventory (OSI). A total of 4 180 students were included in the analysis. Different types of depression and anxiety in students and their influencing factors were analyzed by the Chi squaretest and multivariate Logistic regression.@*Results@#The overall prevalence of depression and anxiety among primary and secondary school students were 16.6% and 22.4%, respectively, with 14.0% of depression and anxiety comorbidities. The Logistic regression results showed that, compared to students with low depression-low anxiety, students of depression and anxiety who had parents in conflicts ( OR =3.06), smoked ( OR =3.16), exhibited moderate food addiction ( OR =3.56), and had non suicidal self injury (NSSI) ( OR =2.26) were more likely to be classified as a depression predominant-depression anxiety type. Students of depression and anxiety who consumed alcohol ( OR =2.00), had serious food addiction ( OR =5.44), moderate to severe insomnia ( OR =3.25), and mild insomnia ( OR =1.88) were more likely to be classified as anxiety predominant-depression anxiety type. Students of depression and anxiety with low mood ( OR =10.87), mild food addiction ( OR =2.00), moderate food addiction ( OR =4.32), and severe food addiction ( OR =7.35), mild ( OR =2.96) or moderate to severe ( OR =16.52) insomnia, and NSSI ( OR =4.24) were more likely to be classified as the severe depression anxiety type( P < 0.05 ).@*Conclusions@#There are significant differences between different depression-anxiety types among primary and secondary school students with respect to food addiction, insomnia, NSSI, smoking, and alcohol use. Relevant departments should engage with schools and families to adopt targeted interventions for students to reduce the occurrence of mental health problems.

Association between negative emotion, family intimacy and Internet addiction among junior and senior school students / 中国学校卫生

Objective@#To explore the association between negative emotion (depression, anxiety and stress), family intimacy and Internet addiction, so as to provide a basis for the intervention of Internet addiction among junior and senior high school students.@*Methods@#Students were selected by stratified random cluster sampling method from junior high schools and senior high schools from December 2022 to February 2023 in Yixing City, Jiangsu Provicne. A total of 3 026 students completed the questionnaire survey, including the demographic characteristics, Depression, Anxiety and Stress Scale-21 (DASS-21), Family Environment Scale-Chinese Version (FES-CV), and Chinese Internet Addiction Scale Revised (CIAS-R). Bivariate correlation was used to analyzed the association of family intimacy, depression, anxiety, stress, and Internet addiction. Mediating effect model was used to analyzed the mediating effect of negative emotion between family intimacy and Internet addiction.@*Results@#The average score of Internet addiction among junior and senior high school students was (46.26±15.58), and there were statistical differences in the average scores of Internet addiction across different grades ( F=87.15, P <0.01). Depression ( r =0.57), anxiety ( r =0.56), stress ( r = 0.57) were positively correlated with Internet addiction, and family intimacy ( r =-0.34) was negatively correlated with Internet diction ( P <0.01). In the mediating effect model, family intimacy negatively predicted negative emotion ( β =-0.48) and Internet addiction ( β =-0.10), and negative emotion positively predicted Internet addiction ( β =0.45) ( P <0.01). Negative emotion played a partial mediating role between family intimacy and Internet addiction (the mediation value:-1.71, 95% CI =-1.96--1.49, mediation ratio:67.9%, P <0.05).@*Conclusions@#There are associations between negative emotion, family intimacy and Internet addiction among junior and senior school students. Family intimacy indirectly affects Internet addiction mainly through negative emotion. It suggests that family education is in need of attention to reduce the prevalence rate of Internet addiction among junior and senior high school students, especially family intimacy.

Association of anxiety, insomnia, and family cohesion with Internet addiction and non suicidal self injury behavior in junior and senior school students / 中国学校卫生

Objective@#To explore the mediating effect of anxiety, insomnia, and family cohesion between Internet addiction and non suicidal self injury (NSSI) behavior among junior and senior school students, so as to develop interventions to promote adolescent mental health.@*Methods@#A total of 3 026 junior and senior school students from Yixing, Jiangsu Province, China, were selected by stratified cluster sampling from December 2022 to February 2023, and were administered the Ottawa Self injury Inventory (OSI), Depression, Anxiety and Stress Scale-21 (DASS-21), Family Environment Scale-Chinese Version (FES-CV), Insomnia Severity Index (ISI), and Chinese Internet Addiction Scale Revised (CIAS-R). A mediating effect model was constructed to analyze the mediating effect of anxiety, insomnia, and family cohesion on Internet addiction and NSSI.@*Results@#Internet addiction ( r = 0.24), insomnia ( r =0.28), and anxiety ( r =0.27) were positively correlated with NSSI, while the latter was negatively correlated with family cohesion ( r =-0.23) ( P <0.01). The mediating effect model was well fitted ( CFI=0.999, TLI=0.978, RMSEA = 0.030 ). Anxiety (mediation effect value:0.12, 95% CI =0.08-0.18) and family cohesion (mediation effect value:0.08, 95% CI = 0.03 -0.13) had a separate mediating effect. A chain meditating effect was found in the case of anxiety and insomnia (mediation effect value:0.14, 95% CI =0.10-0.20), family cohesion and anxiety (mediation effect value:0.05, 95% CI =0.03-0.07), family cohesion and insomnia (mediation effect value:0.05, 95% CI =0.03-0.07), and family cohesion, anxiety, and insomnia (mediation effect value:0.06, 95% CI =0.04-0.08). The mediating effect accounted for 14.9%, 10.1%, 17.5%, 6.0%, 5.6%, and 7.1%, respectively.@*Conclusions@#Anxiety, insomnia, and family cohesion partially mediate Internet addiction and NSSI. Schools and families should pay attention to Internet addiction among junior and senior school students and develop appropriate interventions to promote adolescent mental health, so as to reduce the prevalence of NSSI.

Evaluation of the Combination of APC and DCC Gene Methylation in the Early Diagnosis of Lung Cancer / 现代检验医学杂志

Objective To investigate the significanceof both the adenomatous polyposis coli (APC)and deleted in colorectal carcinoma (DCC)gene methylation in the early diagnosis of lung cancer.Methods 245 patients with lung cancer and 150 patients with non-malignant lung disease patients and 40 healthy volunteers were drawn for the experiment.A methylation specific PCR (MSP)was used to detect the methylation status of APC and DCC in the peripheral blood.Results The posi-tive rates of APC and DCC genes promoter methylation Peripheral blood of patients with lung cancer were 26.53% (65/245)and 36.33% (89/245),respectively.The positive rates of APC and DCC genes promoter methylation Peripheral blood of patients with benign lung diseases were 2.67% (4/150),8.00%(12/150),respectively.The positive rates of APC and DCC genes promoter methylation Peripheral blood of healthy volunteers were 0.There was a significant difference between patients with the lung cancer,those with the benign lung diseases and Healthy volunteers (P 0.05).There was no correlation between methylation test results and pa-tient gender,age,pathological type,pathological grade,TNM stage and so on (P >0.05).Conclusion APC and DCC gene methylation were closely related to the development of non-small cell lung cancer.They can be used as an early diagnostic marker of lung cancer.

Clinical implementation of 2010 reference standards of the U.S.Chinical and Laboratory Standards Institute in antimicrobial susceptibility for Enterobacteriaceae / 中华全科医师杂志

Objective To compare the performance of 2009 and 2010 reference standards of the United States Clinical and Laboratory Standards Institute(CLSI)in antimicrobial susceptibility for Enterobacteriaceae.Methods The breakpoints of susceptibility for ceftriaxone,ceftazidime and aztreonam in CLSI M100-S19(2009)were used to analyze results of antimicrobial susceptibility of Escherichia coli (308 isolates)and Klebsiella pneumoniae(194 isolates),as well as those revised in M100-S20(2010).Results With both the breakpoints in CLSI M100-S19(2009)and CLSI M100-S20(2010),proportions of antimicmbial resistance of ceftriaxone,ceftazidime and aztreonam for isolates of extended-spectrum β-lactamases(ESBLs)-producing E. coli were 84.2 percent vs.98.0 percent and 84.9 percent vs.98.0percent,respectively:those for isolates of ESBLs negative E. coli were 4.2 percent vs.7.7 percent and 5.6percent vs.8.4 percent,respectively;those for isolates of ESBLs positive Klebsiella spp.were 67.2 percent vs.90.2 percent and 67.2 percent vs.90.2 percent,respectively:and those for isolates of ESBLs negative Klebsiella spp.were 9.8 percent vs.10.6 percent and 10.6 percent vs.10.6 percent,respectively.Conclusions Proportions of antimicrobial resistance for ceftriaxone,ceftazidime and aztreonam with the rcference breakpeints of CLSI M100-S20(2010)increase to various extent,8.8 compared to those with the old ones in 2009.Compared with ESBLs negative isolates,ESBLs positive isolates are affected much more by the breakpeints of CLSI M100-S20(2010).Proportion of affected Klebsiella spp.by the revised breakpoints of CLSI M100-S20(2010)for ceftazidime and aztreonam is higher than that of E. coli with ESBLs positive.

The value of HMGB1 and Toll-like receptor 4 in peripheral blood mononuclear cells and serum of rheumatoid arthritis / 中华风湿病学杂志

Objective To investigate the effect and possible mechanism of high mobility group box (HMGB) 1 in the development and progress of rheumatoid arthritis.Methods PBMC and serum samples were obtained from 74 RA patients (38 in active stage and 36 in stable stage) and 26 healthy controls.The expression of HMGB1 mRNA and protein was detected by RT-PCR and ELISA.Flow cytometry analysis ( FCM ) was used to detect the expression of Toll-like receptor 4 on PBMC.Results ①The expression of HMGBI mRNA and protein in active RA patients was significantly higher than that in healthy controls and inactive RA patients [2.63 vs 0.71，0.93 and (10.2±1.2) vs (7.5±1.8)，(8.3±1.8) ng/ml，respectively](P＜0.01 ).② The relative expression of TLR4 protein on CD14+ monocytes and CD3+ lymphocytes in active RA patients was increased than that in inactive RA and healthy controls (P＜0.05 or P＜0.01 ).It was also higher in inactive RA than in healthy controls (P＜0.05 or P＜0.01 ).③ Level of HMGB1 protein in serum of RA patients was positively correlated with ESR，CRP，RF，the numbers of tender joints and swollen joints as well as radiographic changes.Conclusion HMGB1 can be synthesized and released by PBMC of active RA patients，and then bind to TLR4 of PBMC to promote inflammatory responses and bone erosion.

Study on mutation of pbp5 of ampidllin resistance in enterococcus faedum / 中华检验医学杂志

Objective To study the relationship of ampicillin resistance and?lactamase production, and gene mutation on pbp5 gene fragment in Enterococcus faecium. Methods?lactamase production was tested with nitrocefin, the pbp5 gene fragment of 57 isolates of ampicillin-resistant Enterococcus faecium (ARE. faecium) was amplified by PCR, the mutation of amplified pbp5 gene was detected by single-strand conformation polymorphism(SSCP), the specific mutation types were confirmed by sequencing. Results?lactamase was negative in 57 isolates of ARE. faeciums; there were 3-6 gene mutation sites on pbp5 gene fragment, and the frequent mutation sites were the position 485 ,499 and 466'. Conclusion The gene mutation of pbp5 gene fragment may play an important role in the ARE. faecium.

Detection of partial virulence determinants and phenotypes in Enterococci / 中华检验医学杂志

Objective To investigate the incidence of six virulence determinants and two phenotypes in clinical strains of Enterococci.Methods PCR and dot blot were used to detect the six virulence determinants in 145 clinical isolates. The two phenotypes , including ?-hemolysis and gelatin hydrolyze ,were performed on agar plate containing 7% rabbit blood and Todd-Hewitt agar plate supplemented with 3% gelatin, respectively.Results In E. faecalis and E. faecium ,the rates of detection of the six virulence determinants were gelE72.9% vs 30.6%,efaA79.2% vs 36.7%,cylA54.2% vs 34.7%,esp34.4% vs 36.7%,agg 18.8% vs 0, ace28.1% vs 0, respectively; the ? hemolysis was 45.8% vs 20.4%,the gelatin hydrolyze was 35.4% vs 16.3%.Conclusions E. faecalis possess more virulence determinants and phenotypes than E. faecium do. The virulence determinants are more common among the strains isolated from urine sample than those from among sputum . Most of the E. faecalis carry virulence determinants of gelE,efaA and cylA .

Relationship of Life Events and Internet Use in Junior High School Students / 中国临床心理学杂志

Objective:To explore the relationship of life events and internet use in junior high school students.Methods:123 7th grade students were asked to complete the Chinese Adolescent Life Events Checklist,Internet Service Preference Questionnaire for Adolescence and Adolescent Pathological Internet Use Scale.Results:Students' life events scores were lower than the norm significantly;Junior high school students' life events positively correlate with pathological internet use,as well as with salience,tolerance,compulsion symptoms,social comfort,and negative outcomes subscales;Internet service preference closely correlates with pathological internet use;Subjective stress,social preference of internet can predict pathological internet use significantly.Conclusion:Pathological internet use is closely related to life events and social service.

Comparision Among Four Species Puhuang on Blood Coagulation System in Vivo and Vitro / 中草药

Test on coagulation time,prothrombin time and platelet aggregation of mice and rats showed that all four species of Puhuang had effects on blood coagulation, in which Typha angustata Bory et Chaub. was the strongest followed by T. davidiana Hand. -Mazz., T. latifolia L,and T. angustifolia L. Their mechanism of coagulation were not the same,in which T. angustata Bory et Chaub. mainly acted on thrombogen,while T.davidiana Hand. -Mazz. mainly acted on platelet aggregation.

Effect of Girald Acanthopanax (Acanthopanax giraldii) Polysaccharide on Myocine ATPase and Immunity of Myocardial Hypertrophy Rat in Vivo / 中草药

It was shown that in the stricture on abdominal aorta (SAA) rat myocardiac hypertrophy model,the caudal blood pressure was increased,the wall of left ventricle was thichened, the proliferation of T cell in thymus and spleen was decreased and the content of IL-2 was less than normal. Acanthopanax giroldii polysaccharide (AGPS10mg/kg.d, sc) could harmonize the heightened blood pressure and increase the level of immunity in the body. It was suggested by the result, that AGPS could be used to strengthen the heart function as well as immunity.