1.Correlation between ASXL1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodys-plastic Syndrome
Jia-Le MA ; Yang WANG ; Xue-Bao TENG ; Meng-Xi WANG ; Ci-Xian ZHANG
Journal of Experimental Hematology 2025;33(6):1670-1680
Objective:To explore the correlation between ASXL1 gene mutation characteristics and clinical manifestations and prognosis in patients with myelodysplastic syndrome(MDS).Methods:The clinical date of 264 patients with MDS in Xuzhou Central Hospital,Southeast University from August 2010 to April 2024 was retrospectively analyzed.The patients were divided into ASXL1wt group and ASXL1mut group according to the presence of ASXL1 gene mutation,and the correlation between gene mutation characteristics and clinical manifestations and prognosis was analyzed.Results:Compared with ASXL1wt group,the ASXL1mut group had a higher age of onset(P<0.05),a higher proportion of males(P<0.05),while the incidence of del(5q)was lower(P<0.01).The mutation frequency of ASXL1 in MDS patients was 21.97%,and most of them were frameshift mutations.The p.Gly646fs was the most common amino acid variant,with a mutation frequency of 20.69%.The median overall survival(OS)and leukemia-free survival of patients with this sequence variant was 18.1 and 23.8 months,respectively,while in those without this sequence variant was 30 months and not reached,and the differences were statistically significant(P<0.05).The results of multivariate analysis showed that the mutation of NRAS,WT1,KIT gene and the p.Gly646fs sequence mutation of ASXL1 gene were independent prognostic factors for OS in ASXL1mut patients.The median OS of ASXL1wt and ASXL1mut patients was 27.9(21.3-40.4)and 23.7(18.6-NA)months,respectively(P>0.05).Among 58 ASXL1mut patients,5 cases(8.6%)transformed to acute leukemia,including 3 cases with RUNX1 mutation and 3 cases with TET2 mutation.Among 206 ASXL1wt patients,28 cases(13.6%)transformed to acute leukemia.The difference in leukemia transformation rate between the two groups was not statistically significant(P>0.05).The efficacy of different treatment regimens was similar in the ASXL1mut group,while in the ASXL1wt group,patients receiving allogeneic hematopoietic stem cell transplantation had a significantly better prognosis than those receiving other treatment regimens(P<0.001).The overall response rate to demethylation therapy was 68.7%and 67.6%in ASXL1mut and ASXL1wt group,respectively,and the difference between the two groups was not significant(P>0.05).Conclusion:The overall survival of MDS patients with ASXL1mut is poor.The patients with p.Gly646fs sequence mutation have a higher proportion of bone marrow blasts and a worse prognosis.There are no statistical differences in efficacy of different treatment strategies in ASXL1mut group.ASXL1 mutation shows no significant effect on the response of MDS to hypomethylating agent therapy.
2.Research on the knowledge of chronic obstructive pulmonary disease and its influencing factors among residents in Jiading District,Shanghai
Bao-hui CHEN ; Xin YIN ; Ke XU ; Xi-wen ZHANG ; Feng GAO ; Na WANG
Fudan University Journal of Medical Sciences 2025;52(5):737-742
To effectively carry out community health education and prevention and control of chronic obstructive pulmonary disease(COPD),we conducted a questionnaire survey on the awareness of COPD knowledge among residents aged 40 and above in Jiading District of Shanghai by using two-stage sampling method.We included 1 783 permanent residents in 4 districts and collected 1 666 valid questionnaires.The awareness rates of COPD name,pulmonary function test and related knowledge were 15.9%,11.9%and 17.2%,respectively.For the main symptoms of COPD,the awareness rate of sputum was the lowest(65.2%),of shortness of breath and dyspnea was the highest(78.4%).For the risk factors,the awareness rate of severe respiratory tract infection in childhood was the lowest(67.3%),of smoking was the highest(86.8%).Multiple response analysis showed that mobile phones and computers accounted for the highest proportion of acquiring knowledge of COPD(66.7%).Multivariate logistic regression analysis showed that low educational level,low monthly income,engaged in production and manufacturing,never or less exercise,no use of indoor air improvement measures,no wearing of masks in public places and no vaccination of influenza vaccine per year were associated with lower awareness rate of COPD.The community should improve the way and ability of health science popularization,and carry out health education for key groups.
3.The predictive value of new simplified insulin resistance assessment indicators for the development of fatty pancreatic disease
Xinyi ZHOU ; Yongpeng ZHAI ; Jiahui WANG ; Xi ZHANG ; Yichen BAO ; Lin ZHOU
Journal of Clinical Hepatology 2025;41(8):1632-1638
Objective To investigate the predictive value of triglyceride glucose-body mass index(TyG-BMI),serum triglyceride-to-high-density lipoprotein cholesterol ratio(TG/HDL-C),and metabolic score for insulin resistance(METS-IR)for fatty pancreatic disease(FPD).Methods A total of 240 patients with FPD treated in The First Affiliated Hospital of Zhengzhou University from January 2020 to November 2023 were included as the case group,while 480 healthy subjects who underwent healthy checks in the same period were randomly selected as the control group.General clinical data and laboratory indicators were collected.The Mann-Whitney U test and chi-square test were used to compare non-normally distributed continuous variables,and categorical variables between groups,respectively.A binary logistic regression model was used to assess the relationship between TyG-BMI,TG/HDL-C,and METS-IR and FPD.The receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was calculated to evaluate the predictive diagnostic value of those simplified insulin resistance indicators for FPD in the general population and different sex populations.Results Age,BMI,systolic blood pressure,diastolic blood pressure,fasting plasma glucose,uric acid,alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transferase,total cholesterol,triglyceride,low-density lipoprotein cholesterol,TyG-BMI,TG/HDL-C,and METS-IR in the case group were significantly higher than those in the control group(all P<0.05).The case group had significantly higher proportions of individuals with hypertension,diabetes,and fatty liver disease than the control group(all P<0.05).The high-density lipoprotein cholesterol level was significantly lower in the case group than in the control group(P<0.05).The multivariable Logistic regression analysis showed that after adjusting for various influencing factors,TyG-BMI,TG/HDL-C,and METS-IR remained as independent risk factors for the development of FPD,with the odds ratios(95%confidence intervals)being 1.027(1.018-1.037),6.964(2.022-23.989),and 1.184(1.123-1.248),respectively.In the ROC curve analysis,the AUCs of METS-IR and TyG-BMI were 0.823 and 0.803,respectively,with their sensitivities being 76.3%and 75.8%,specificities being 74.6%and 71.7%,and optimal cut-off values being 34.86 and 196.70,respectively;the next were BMI(AUC=0.758)and TG/HDL-C(AUC=0.734);in the sex-stratified analysis,the AUC values of METS-IR were highest in both the male and female subgroups,which were 0.834 and 0.810,respectively.Conclusion TyG-BMI,TG/HDL-C,and METS-IR show good predictive value for the development of FPD,in which METS-IR is more excellent.
4.The predictive value of new simplified insulin resistance assessment indicators for the development of fatty pancreatic disease
Xinyi ZHOU ; Yongpeng ZHAI ; Jiahui WANG ; Xi ZHANG ; Yichen BAO ; Lin ZHOU
Journal of Clinical Hepatology 2025;41(8):1632-1638
Objective To investigate the predictive value of triglyceride glucose-body mass index(TyG-BMI),serum triglyceride-to-high-density lipoprotein cholesterol ratio(TG/HDL-C),and metabolic score for insulin resistance(METS-IR)for fatty pancreatic disease(FPD).Methods A total of 240 patients with FPD treated in The First Affiliated Hospital of Zhengzhou University from January 2020 to November 2023 were included as the case group,while 480 healthy subjects who underwent healthy checks in the same period were randomly selected as the control group.General clinical data and laboratory indicators were collected.The Mann-Whitney U test and chi-square test were used to compare non-normally distributed continuous variables,and categorical variables between groups,respectively.A binary logistic regression model was used to assess the relationship between TyG-BMI,TG/HDL-C,and METS-IR and FPD.The receiver operating characteristic(ROC)curve was plotted,and the area under the curve(AUC)was calculated to evaluate the predictive diagnostic value of those simplified insulin resistance indicators for FPD in the general population and different sex populations.Results Age,BMI,systolic blood pressure,diastolic blood pressure,fasting plasma glucose,uric acid,alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transferase,total cholesterol,triglyceride,low-density lipoprotein cholesterol,TyG-BMI,TG/HDL-C,and METS-IR in the case group were significantly higher than those in the control group(all P<0.05).The case group had significantly higher proportions of individuals with hypertension,diabetes,and fatty liver disease than the control group(all P<0.05).The high-density lipoprotein cholesterol level was significantly lower in the case group than in the control group(P<0.05).The multivariable Logistic regression analysis showed that after adjusting for various influencing factors,TyG-BMI,TG/HDL-C,and METS-IR remained as independent risk factors for the development of FPD,with the odds ratios(95%confidence intervals)being 1.027(1.018-1.037),6.964(2.022-23.989),and 1.184(1.123-1.248),respectively.In the ROC curve analysis,the AUCs of METS-IR and TyG-BMI were 0.823 and 0.803,respectively,with their sensitivities being 76.3%and 75.8%,specificities being 74.6%and 71.7%,and optimal cut-off values being 34.86 and 196.70,respectively;the next were BMI(AUC=0.758)and TG/HDL-C(AUC=0.734);in the sex-stratified analysis,the AUC values of METS-IR were highest in both the male and female subgroups,which were 0.834 and 0.810,respectively.Conclusion TyG-BMI,TG/HDL-C,and METS-IR show good predictive value for the development of FPD,in which METS-IR is more excellent.
5.Correlation between ASXL1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodys-plastic Syndrome
Jia-Le MA ; Yang WANG ; Xue-Bao TENG ; Meng-Xi WANG ; Ci-Xian ZHANG
Journal of Experimental Hematology 2025;33(6):1670-1680
Objective:To explore the correlation between ASXL1 gene mutation characteristics and clinical manifestations and prognosis in patients with myelodysplastic syndrome(MDS).Methods:The clinical date of 264 patients with MDS in Xuzhou Central Hospital,Southeast University from August 2010 to April 2024 was retrospectively analyzed.The patients were divided into ASXL1wt group and ASXL1mut group according to the presence of ASXL1 gene mutation,and the correlation between gene mutation characteristics and clinical manifestations and prognosis was analyzed.Results:Compared with ASXL1wt group,the ASXL1mut group had a higher age of onset(P<0.05),a higher proportion of males(P<0.05),while the incidence of del(5q)was lower(P<0.01).The mutation frequency of ASXL1 in MDS patients was 21.97%,and most of them were frameshift mutations.The p.Gly646fs was the most common amino acid variant,with a mutation frequency of 20.69%.The median overall survival(OS)and leukemia-free survival of patients with this sequence variant was 18.1 and 23.8 months,respectively,while in those without this sequence variant was 30 months and not reached,and the differences were statistically significant(P<0.05).The results of multivariate analysis showed that the mutation of NRAS,WT1,KIT gene and the p.Gly646fs sequence mutation of ASXL1 gene were independent prognostic factors for OS in ASXL1mut patients.The median OS of ASXL1wt and ASXL1mut patients was 27.9(21.3-40.4)and 23.7(18.6-NA)months,respectively(P>0.05).Among 58 ASXL1mut patients,5 cases(8.6%)transformed to acute leukemia,including 3 cases with RUNX1 mutation and 3 cases with TET2 mutation.Among 206 ASXL1wt patients,28 cases(13.6%)transformed to acute leukemia.The difference in leukemia transformation rate between the two groups was not statistically significant(P>0.05).The efficacy of different treatment regimens was similar in the ASXL1mut group,while in the ASXL1wt group,patients receiving allogeneic hematopoietic stem cell transplantation had a significantly better prognosis than those receiving other treatment regimens(P<0.001).The overall response rate to demethylation therapy was 68.7%and 67.6%in ASXL1mut and ASXL1wt group,respectively,and the difference between the two groups was not significant(P>0.05).Conclusion:The overall survival of MDS patients with ASXL1mut is poor.The patients with p.Gly646fs sequence mutation have a higher proportion of bone marrow blasts and a worse prognosis.There are no statistical differences in efficacy of different treatment strategies in ASXL1mut group.ASXL1 mutation shows no significant effect on the response of MDS to hypomethylating agent therapy.
6.Research on the knowledge of chronic obstructive pulmonary disease and its influencing factors among residents in Jiading District,Shanghai
Bao-hui CHEN ; Xin YIN ; Ke XU ; Xi-wen ZHANG ; Feng GAO ; Na WANG
Fudan University Journal of Medical Sciences 2025;52(5):737-742
To effectively carry out community health education and prevention and control of chronic obstructive pulmonary disease(COPD),we conducted a questionnaire survey on the awareness of COPD knowledge among residents aged 40 and above in Jiading District of Shanghai by using two-stage sampling method.We included 1 783 permanent residents in 4 districts and collected 1 666 valid questionnaires.The awareness rates of COPD name,pulmonary function test and related knowledge were 15.9%,11.9%and 17.2%,respectively.For the main symptoms of COPD,the awareness rate of sputum was the lowest(65.2%),of shortness of breath and dyspnea was the highest(78.4%).For the risk factors,the awareness rate of severe respiratory tract infection in childhood was the lowest(67.3%),of smoking was the highest(86.8%).Multiple response analysis showed that mobile phones and computers accounted for the highest proportion of acquiring knowledge of COPD(66.7%).Multivariate logistic regression analysis showed that low educational level,low monthly income,engaged in production and manufacturing,never or less exercise,no use of indoor air improvement measures,no wearing of masks in public places and no vaccination of influenza vaccine per year were associated with lower awareness rate of COPD.The community should improve the way and ability of health science popularization,and carry out health education for key groups.
7.Key technology and equipment development status of first-aid robotics
Zhen-bao WANG ; Zi-jian WANG ; Xin-xi XU ; Xin LIU ; Tao CHENG ; Pei-peng LIU ; Xiu-guo ZHAO ; Chen SU
Chinese Medical Equipment Journal 2025;46(3):96-114
The development status of the key technologies of first-aid robotics was introduced in autonomous system,embo-died intelligence,digital twins,large artificial intelligence model and autonomous unmanned medical treatment.The present situation in first-aid robotics equipment was reviewed for first-aid diagnosis,treatment,assistance and transportation.The development trends of the key technology and equipment of first-aid robotics were analyzed.It was pointed out the involve-ment of big model-based embodied intelligence technology and digital twins technology in first aid might provide new pers-pectives for the application and advancement of specialized first-aid robotics.[Chinese Medical Equipment Journal,2025,46(3):96-114]
8.Synergistic cytotoxic effect of chrysin and venetoclax on AML cells and its mechanism
Yan WANG ; Peixiong ZHU ; Pengyue YANG ; Xiuli WU ; Yangqiu LI ; Xi-bao YU ; Ling XU
Chinese Journal of Pathophysiology 2025;41(7):1300-1307
AIM:This study aims to investigate the synergistic cytotoxic effects of chrysin and venetoclax on acute myeloid leukemia(AML)cells and to elucidate the underlying mechanisms.METHODS:Human AML cell lines MV411 and MOLM13 were cultured in vitro and treated with chrysin in combination with venetoclax.Cell viability was as-sessed using the CCK8 assay,while flow cytometry was employed to measure cell cycle distribution and apoptosis rates.Western blot was used to detect the expression of apoptosis-related proteins and protein kinase B(PKB/Akt)/nuclear factor-κB(NF-κB)signaling pathway-related proteins.RESULTS:The results from the CCK8 assay and flow cytometry demon-strated that treatment with 16 and 32 μmol/L chrysin significantly inhibited the viability of AML cells and increased the proportion of cells in G1 phase,as well as the apoptosis rate.Notably,the cells in combination treatment group exhibited a marked reduction in proliferation and an elevated apoptosis rate compared with either chrysin or venetoclax group alone.Western blot analysis indicated that increasing concentrations of chrysin led to an elevation in cleaved poly(ADP-ribose)polymerase(PARP)level,alongside a down-regulation of proteins associated with the Akt/NF-κB signaling pathway.Fur-thermore,the combination treatment significantly up-regulated cleaved PARP level and down-regulated Akt/NF-κB path-way-related proteins compared with the treatment with chrysin or venetoclax alone.CONCLUSION:Chrysin and veneto-clax synergistically inhibit the proliferation of AML cells and promote apoptosis by modulating the Akt/NF-κB signaling pathway.
9.Investigation and analysis of hearing impaired children's ability to use hearing equipment
Shuang LIANG ; Qingqing LIU ; Huimin TAN ; Nan ZHAO ; Xi CHEN ; Wenjing SHI ; Yanfang MA ; Wei BAO ; Xingcheng WANG ; Jin LI ; Liping SHI ; Jiang LONG
Journal of Audiology and Speech Pathology 2025;33(4):359-362
Objective To investigate the status of hearing impaired children's hearing device independence skills,and to explore the ways to improve their self-use of hearing equipment.Methods This study surveyed 64 re-habilitation teachers and 411 parents of children with hearing impairment aged 0-12 years.Through face-to-face or remote telephone interview,3 good habits(A asking parents for advice before removing the HA,B putting the de-vice into a moisture-proof box after removing it,C bringing batteries to school and knowing where are them)and 3 key abilities[D wearing the device independently,E replacing the battery independently,and F independently handle foreign bodies in the ear mold(Fa)and water vapor(Fb)]was investigated.The age when mastering skills or de-veloping habits difference of hearing impaired children in different groups were compared.Results ① The ratio of ability D in the bilateral CI group and the bilateral HA group of preschool children was 30.97%and 18.57%respec-tively.Among elementary school children,85.29%and 90.70%had this ability respectively.② The ratio of ability E in the bilateral CI group,the bilateral HA group and the bimodel group were 11.50%,15.71%and 16.49%,re-spectively.Among elementary school children,64.71%,53.49%and 68.52%had this ability,respectively.③Among preschool children,there was no statistical difference in age when different equipment groups developed the three good habits and acquired ability D and E(P>0.05).④ Among primary school children,there was a statisti-cal difference in the age when different equipment groups formed habit A(P<0.05),and the age when double CI group had this ability was slightly earlier than the double HA group.There was no significant difference in other abilities among age groups(P>0.05).Conclusion The age at which hearing impaired children develop the three good habits precedes the age at which they master the key skills,which accords with the law of skill acquisition and development of ordinary children.Corresponding teaching process should be based on the age and ability of hearing-impaired children without considering the type of equipment.
10.Investigation and analysis of hearing impaired children's ability to use hearing equipment
Shuang LIANG ; Qingqing LIU ; Huimin TAN ; Nan ZHAO ; Xi CHEN ; Wenjing SHI ; Yanfang MA ; Wei BAO ; Xingcheng WANG ; Jin LI ; Liping SHI ; Jiang LONG
Journal of Audiology and Speech Pathology 2025;33(4):359-362
Objective To investigate the status of hearing impaired children's hearing device independence skills,and to explore the ways to improve their self-use of hearing equipment.Methods This study surveyed 64 re-habilitation teachers and 411 parents of children with hearing impairment aged 0-12 years.Through face-to-face or remote telephone interview,3 good habits(A asking parents for advice before removing the HA,B putting the de-vice into a moisture-proof box after removing it,C bringing batteries to school and knowing where are them)and 3 key abilities[D wearing the device independently,E replacing the battery independently,and F independently handle foreign bodies in the ear mold(Fa)and water vapor(Fb)]was investigated.The age when mastering skills or de-veloping habits difference of hearing impaired children in different groups were compared.Results ① The ratio of ability D in the bilateral CI group and the bilateral HA group of preschool children was 30.97%and 18.57%respec-tively.Among elementary school children,85.29%and 90.70%had this ability respectively.② The ratio of ability E in the bilateral CI group,the bilateral HA group and the bimodel group were 11.50%,15.71%and 16.49%,re-spectively.Among elementary school children,64.71%,53.49%and 68.52%had this ability,respectively.③Among preschool children,there was no statistical difference in age when different equipment groups developed the three good habits and acquired ability D and E(P>0.05).④ Among primary school children,there was a statisti-cal difference in the age when different equipment groups formed habit A(P<0.05),and the age when double CI group had this ability was slightly earlier than the double HA group.There was no significant difference in other abilities among age groups(P>0.05).Conclusion The age at which hearing impaired children develop the three good habits precedes the age at which they master the key skills,which accords with the law of skill acquisition and development of ordinary children.Corresponding teaching process should be based on the age and ability of hearing-impaired children without considering the type of equipment.

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